Usmle Step 1: Buzz Words

Front 1

N/V, abd pain, diarrhea, decreased LOC, hypotension, increased HR, garlic odor on breath?

Back 1

Acute arsenic poisoning (occur most commonly due to ingestion of arsenic containing insecticides). Treatment: dimercaprol-chealating agent with side effects of neprotoxicity and hypertension-USMLE! Other used for dimercarpol: Mercury, Gold, Arsenic, and Lead (with CaEDTA)

Front 2

Abdominal pain, ascites, hepatomegaly?

Back 2

Budd-Chiari syndrome (posthepatic venous thrombosis)

Front 3

Insidious onset progressive exertional dyspnea, pulmonary function tests showing restrictive profile and surgical biopsy showing extensive intersitial fibrosis with paraseptal and subpleural cystic airspace enlargement (honeycomb lung)?

Back 3

Idiopathic pulmonary fibrosis (USMLE: 52 yr old pt presented with exertional dyspnea that has progessed over past yr. NO PMH. Spirometry shows FEV1/FVC of 87% and FVC 40%. Lung biopsy shows dense fibrosis, fibroblast proliferation and cyst formation, most prominent in subpleural regions=progressive usual interstitial pneumonia (UIP)

Front 4

Adrenal hemorrhage, hypotension, DIC?

Back 4

Waterhouse-Friderichsensyndrome (meningococcemia)

Front 5

Arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints?

Back 5

Marfan's syndrome (fibrillin defect)

Front 6

Athlete with polycythemia?

Back 6

Erythropoietin injection

Front 7

Back pain, fever, night sweats, weight loss?

Back 7

Pott's disease (vertebral tuberculosis)

Front 8

Bilateral hilar adenopathy, uveitis?

Back 8

Sarcoidosis (non caseating granulomas)

Front 9

Blue sclera?

Back 9

Osteogenesis imperfecta (collagen defect)-defect in forming triple helix INSIDE RER (triple helix is formed when lysine residues are glycosylated with galatose and glucose and formation of procollagen-triple helix of 3 alpha chains-from preprocollagen

Front 10

Bluish line on gingiva?

Back 10

Burton's line (lead poisoning)

Front 11

Bone pain,bone enlargement, arthritis?

Back 11

Paget's disease of bone(Increase osteoblastic and osteoclastic activity)

Front 12

Bounding pulses, diastolic heart murmur, head bobbing?

Back 12

Aortic regurgitation

Front 13

Cafe-au-lait spots, Lisch nodules (iris hamartoma)?

Back 13

Neurofibromatosis type I (+ pheochromocytoma, optic gliomas)

Neurofibromatosis type II (+ bilateral acoustic neuromas)

Front 14

Cafe-au-lait spots, polyostotic fibrous dysplasia, precocious puberty?

Back 14

McCune-Albright syndrome (mosaic G-protein signaling mutation)

Front 15

Calf pseudohypertrophy and gowers sign?

Back 15

Muscular dystrophy (most commonly Duchenne's)-Lack of dystrophin protein: Muscle fiber protein that serves as sarcolemmal strut to maintain membrane integrity during contraction-related shape changes. X LINKED (MOTHER TO SON). You get calf pseudohypertrophy b/c the muscle fibers die and are replaced by fibrous tissue and fat

Duchenne: X-linked FRAMESHIFT MUTATION (Kaplan!)-->deletion of dystrophin gene-->accelerated muscle breakdown

Beckers: X-linked mutated dystrophin gene
-less severe

Front 16

"Cherry-red spot" on macula?

Back 16

Tay-Sachs (ganglioside accumulation) or Niemann-Pick (sphingomyelin accumulation), central retinal artery occlusion

Front 17

Chest pain, pericardial effusion/friction rub, persistent fever following MI?

Back 17

Dressier's syndrome (autoimmune-mediated post-MI fibrinous pericarditis, 1-12 weeks after acute episode)

Front 18

Child uses arms to stand up from squat?

Back 18

Gowers' sign (Duchenne muscular dystrophy: X-linked recessive deleted dystrophin gene)

Front 19

Child with fever develops red rash on face that spreads to body?

Back 19

"Slapped cheeks" (erythema infectiosum/fifth disease: parvovirus B19)

Front 20

Chorea, dementia, caudate degeneration?

Back 20

Huntington's disease (autosomal-dominant CAG repeat expansion)

Front 21

Chronic exercise intolerance with myalgia, fatigue, painful cramps?

Back 21

McArdle's disease (muscle phosphorylase deficiency)

Front 22

Hemolytic anemia and enlarged spleen in a newborn ?

Back 22

Pyruvate kinase deficiency (rbcs cant convert PEP to pyruvate b/c no pyruvate kinase which results in less ATP. Less ATP impairs NA/K pump and increase NA inside cell=increase water inside cell=swelling of RBC=hemolysis)

Front 23

Conjugate lateral gaze palsy, horizontal diplopia?

Back 23

Internuclear ophthalmoplegia (damage to MLF; bilateral [multiple sclerosis], unilateral [stroke])

Front 24

5 yr old with fever, abd pain and diarrhea with small amount of blood and then marked pallor with oliguria a few days later?

Back 24

Hemolytic uremic syndrome (Renal failure-oliguria, microangiopathic hemolytic anemia-pallor and thrombocytopenia-bleeding)
Labs will show: decreased RBC count, low HCT, low PLT count, increased bleeding time, increased LDH and increased BUN/CREAT-USMLE!

Front 25

Cutaneous/dermal edema due to connective tissue deposition?

Back 25

Myxedema (hypothyroidism, Graves' disease)

Front 26

Dark purple skin mouth nodules?

Back 26

Kaposi's sarcoma (usually AIDS patients [gay men]: associated with HHV-8)

Front 27

Watery diarrhea, hypokalemia, achlorhydria?

Back 27

VIPoma
-pancreatic islet cell tumor that causes excess VIP secretion resulting in a conditon called pancreatic chlorea or WDHA syndrome (watery diarrhea, hypokalemia and achlorhydia)

Vasoactive intestinal peptide (VIP)
-hormone produced by pancreatic islet cells and neurons in GI mucosa
-Causes
1. relaxtion of the GI smooth muscle
2. Inhibiton of gastric acid secretion
3. stimulation of pancreatic bicarb and chloride secretion

Treatment: somatostatin (octreotide) decreases production of all gastrointestinal hormones.

USMLE-Pt presented with persistent diarrhea over last several months. She describes the stool as tea colored and odorless. She denies abd pain, fever or vomiting (rules out inflammtory diarrhea b/c no blood or pus). She reports her diarrhea has persisted despite a trial of lactose free diet (rules out lactose intolerant so suggests a secretory diarrhea.) Sampling of her gastic mucosa reveals lack of gastic acid secretion. Somatostatin treatment relives the diarrhea.

Front 28

Dermatitis,dementia,diarrhea?

Back 28

Pellagra (niacin [vitamin B1] deficiency)

Front 29

Dilated cardiomyopathy, edema, polyneuropathy?

Back 29

Wet beriberi (thiamine [vitamin B1] deficiency)

Front 30

Dog or cat bite resulting in infection?

Back 30

Pasteurella multocida (cellulitis at inoculation site)

Front 31

Dry eyes, dry mouth, arthritis?

Back 31

Sjogren's syndrome (autoimmune destruction of exocrine glands)

Front 32

Dysphagia, koilonychia, glossitis, iron deficiency anemia?

Back 32

Plummer-Vinson syndrome (may progress to esophageal squamous cell carcinoma): triad- 1. iron deficiency anemia, esophageal web--dysphagia, atrophic glossitis-USMLE!

Front 33

Elastic skin, hyper mobility of joints?

Back 33

Ehlers-Danlos syndrome (collagen defect,usually type Ill)

Front 34

Enlarged, hard left supraclavicular node?

Back 34

Virchow's node (abdominal metastasis)

Front 35

Erythroderma, lymphadenopathy, hepatosplenomegaly,atypical T cells?

Back 35

Sezary syndrome (cutaneous T-cell lymphoma) or mycosis fungoides

Front 36

Deficiency leads to dermatitis, enteritis, alopecia and adrenal insuffiency?

Back 36

Vitamin B5 deficiency (Pantothenate): essential component of CoA (cofactor for acyl transfers) and fatty acid synthase. Important for 1st step of TCA cycle in making citrate from OAA-USMLE!

Front 37

Pruitic, purple, polygonal, papules with sawtooth infiltration of lymphocytes at dermal epidermal junction and associated with Hep C?

Back 37

Lichen planus
-Commonly on wrists, hands, trunks and legs
-A finely reticulated scale termed "Wickham striae" may be present on the plaques surface

Front 38

Fever, chills, headache, myalgia following antibiotic treatment for syphilis?

Back 38

Jarisch-Herxheimerreaction (rapid lysis of spirochetes results in toxin release)

Front 39

Fever, cough, conjunctivitis, coryza, diffuse rash?

Back 39

Measles (Morbillivirus)

Front 40

Infant with severe anemia, many nucleated RBCs, hepatomegaly, jaundice and generalized edema?

Back 40

Erythoblastosis fetalis aka hemolytic disease of the newborn
-Type II hypersensitity rxn
-Can lead to kernicterus and possible fetal demise
-Usually RH- mother and RH+ father
-Prevention: anti-Rh (D) immune globulin to mother during and after pregnacy with an Rh positive infant
-Treatment: exchange transfusion in fetus/newborn in serious cases

USMLE:
Infant born with Hgb of 6, many nucleated erythocytes, hepatomegaly, and generalized edema. The infant dies soon after birth and on autopsy, areas of extramedullary hematopoiesis are found. Which is cause? Maternal antibody mediated RBC lysis

Front 41

Oval to round intracytoplasmic hepatocyte inclusions that appear eosinophillic on H&E stain and strongly PAS positive in a neonate?

Back 41

alpha1-antitrypsin deficiency (red pink PAS staining granules of unsecreted anti-trypsin in periportal hepatocytes-USMLE!)

Front 42

Gout, mental retardation, self-mutilating behavior in a boy?

Back 42

Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive)

Front 43

Green-yellow rings around peripheral cornea?

Back 43

Kayser-fleischer rings (copper accumulation from Wilson's disease)

Front 44

Hamartomatous GI polyps, hyperpigmentationof mouth/feet/hands?

Back 44

Peutz-Jeghers syndrome (genetic benign polyposis can cause bowel obstruction; increase cancer risk)

Front 45

Hepatosplenomegaly,osteoporosis, neurologic symptoms?

Back 45

Gaucher's disease (glucocerebrosidasedeficiency)

Front 46

Hereditary nephritis, sensorineural hearing loss, cataracts?

Back 46

Alport's syndrome (type IV collagen mutation)-Nephritic syndrome

Front 47

Hyperphagia, hypersexuality, hyperorality, hyperdocility?

Back 47

Kliiver-Bucy syndrome (bilateral amygdala lesion)

Front 48

Hypertension, hypokalemia, metabolic alkalosis?

Back 48

Conn's syndrome (Primary hyperaldosteronism)

Front 49

Hypoxemia, polycythemia, hypercapnia?

Back 49

"Blue bloater" (chronic bronchitis: hyperplasia of mucous cells)

Front 50

Indurated, ulcerated genital lesion?

Back 50

1. Non painful chancre (primary syphilis, Treponema pallidum)

2. Painful, with exudate: chancroid (Haemophilus ducreyi)

Front 51

Infant with failure to thrive, hepatosplenomegaly, neurodegeneration?

Back 51

Niemann-Pick disease (genetic sphingomyelinase deficiency)

Front 52

lnfant with hypoglycemia, failure to thrive, and hepatomegaly?

Back 52

Cori's disease (debranching enzyme deficiency)

Front 53

lnfant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect?

Back 53

Edwards' syndrome (trisomy 18)

Front 54

Jaundice, RUQ pain, fever?

Back 54

Charcot's triad 2 (ascending cholangitis)

Front 55

tenderness of calf muscle on dorsiflexion of the foot?

Back 55

Homans sign-suggestive of DVT

Front 56

Large rash with bull's-eye appearance?

Back 56

Erythema chronicum migrans from lxodes tick bite (Lyme disease: Borrelia)

Front 57

Lucid interval after traumatic brain injury?

Back 57

Epidural hematoma (middle meningeal artery rupture)

Front 58

Male child, recurrent infections, no mature B cells?

Back 58

Bruton's disease (x-linked agammaglobulinemia)

Front 59

Kid with skin rash, epistaxis and several sinopulmonary infections?

Back 59

Wiskott-Aldrich syndrome (WAITER)

Wiskott
Aldrich
Immunodefieicny (decreased IgM)
Thrombocytopenia (leads to bleeding, epistaxsis)
Exzema (skin rash)
Recurrent infections (humoral and cellular)
-X-linked recessive
-Progressive deletion of B and T cells
-Decreased IgM
-Increased IgA, IgE=leads to eczema
-Treatment: BMT

Kaplan:
3 yr old boy is brought to ER b/c of skin rash and epistaxis. Review of his record shows he has had several sinopulmonary infections and that his uncle died of bleeding complications following a cholecystectomy (x-linked transmission). What additonal finding would you see? low plt count and low IgM

Front 60

Multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumerary teeth?

Back 60

Gardner's syndrome (subtype of FAP)

Front 61

Neaotizing vasculitis (lungs) and necrotizing glomerulonephritis?

Back 61

Wegener's (c-ANCA positive) and Goodpasture's syndromes (anti-basement membrane antibodies)

Front 62

Neonate with arm paralysis following difficult birth?

Back 62

Erb-Duchenne palsy (superior trunk [C5-C6] brachialplexus injury:"waiter's tip")

Front 63

No lactation postpartum, absent menstruation, cold intolerance?

Back 63

Sheehan's syndrome (pituitary infarction)

Front 64

Nystagmus, intention tremor, scanning speech, bilateral internuclear ophthalmoplegia?

Back 64

Multiple sclerosis

Front 65

Oscillating slow/fast breathing?

Back 65

Cheyne-Stokes respirations (cyclic breathing in which apnea is followed by gradually increasing respiratory frequency, and then gradually decreasing respiratory frequency until the next apneic period. It is seen in cardiac disease (advanced congestive heart failure) and neurologic disease (stroke, brain tumors, traumatic brain injury)-USMLE!

Front 66

Painful blue fingers/toes, hemolytic anemia?

Back 66

Cold agglutinin disease (autoimmune hemolytic anemia caused by Mycoplasma pneumoniae, infectious mononucleosis)

Front 67

non smoker female who presents with cough, weight loss and mass in lung?

Back 67

Adenocarcinoma: most common subtype of nonsmall cell lung cancer in women and non smokers-USMLE! Peripheral located and associated with clubbing, hypertrophic osteoathropathy and consists of tumor cells that form glandular or papillary structures. In general, adenocarcinoma is the most common lung cancer in general population.

Front 68

Painful, raised red lesions on palms and soles?

Back 68

Osler's node (infective endocarditis)

Front 69

Painless etythematous lesions on palms and soles?

Back 69

Janeway lesions (infective endocarditis)

Front 70

Acute onset neurologic abnormalities, hypoxemia, petechial rash in a pt with severe long bone/pelvic fracture?

Back 70

Fat embolism syndrome
-fat globules from bone marrow dislodge and travel to lung. Occlusion of these vessels impairs pulmonary gas exchange and induces hypoxemia.
-The release of free fatty acids from the fat globules causes local toxic injury to the endothelium (with potential to cause ARDS)
-Some fat can escape the lung and head to CNS-->confusion and neurological impairment
-Platelets adhere to the fat globules and leads to thrombocytopenia and petechia

USMLE: Pt presented after MVA. Has bilateral femur fractures, pelvic injury and urethral injury. On 3rd day of admission, he develops confusion, SOB, petechial rash on chest. Lung tissue would show? fat microglobules in pulmonary arterioles

Staining with osmium tetroxide will show black globules of fat-USMLE!

Front 71

Palpable purpura, joint pain, abdominal pain (child)?

Back 71

Henoch-Schonlein purpura (IgA vasculitis affecting skin and kidneys)

Front 72

Pancreatic, pituitary, parathyroid tumors?

Back 72

Wermer's syndrome (MEN 1)

Front 73

Pink complexion, dyspnea, hyperventilation?

Back 73

"Pink puffer" (emphysema: centroacinar [smoking], panacinar [a1-antitrypsin deficiency])

Front 74

Polyuria, acidosis, growth failure, electrolyte imbalances?

Back 74

Fanconi's syndrome (proximal tubular reabsorption defect)

Front 75

Positive anterior "drawer sign"?

Back 75

Anterior cruciate ligament (ACL) injury

Front 76

Ptosis, miosis, anhidrosis?

Back 76

Horner's syndrome (sympathetic chain lesion)

Front 77

Pupil accommodates but doesn't react?

Back 77

Argyll Robertson pupil (neurosyphilis)

Front 78

Rapidly progressive leg weakness that ascends (following Gl/upper respiratory infection)?

Back 78

Guillain-Barre syndrome (autoimmune acute inflammatorydemyelinating polyneuropathy)

Front 79

Rash on palms and soles?

Back 79

Secondary syphilis, Rocky Mountain spotted fever

Front 80

Recurrent colds, unusual eczema, high serum IgE?

Back 80

Job's syndrome (hyper-lgE syndrome: neutrophil chemotaxis abnormality)

Front 81

Red "currant jelly" sputum in alcoholic or diabetic patients?

Back 81

Klebsiella pneumoniae

Front 82

Red, itchy, swollen rash of nipple/areola?

Back 82

Paget's disease of the breast (represents underlying neoplasm)

Front 83

Red urine in the morning, fragile RBCs?

Back 83

Paroxysmal nocturnal hemoglobinuria

Front 84

Renal cell carcinoma, hemangioblastomas, angiomatosis, pheochromocytoma?

Back 84

von Hippel-Lindau disease (dominant tumor suppressor gene mutation)

Front 85

Resting tremor, rigidity, akinesia, postural instability?

Back 85

Parkinson's disease (nigrostriatal dopamine depletion)

Front 86

Restrictive cardiomyopathy (juvenile form: cardiomegaly), exercise intolerance?

Back 86

Pompe's disease (lysosomal glucosidase deficiency)

Front 87

Retinal hemorrhages with pale centers?

Back 87

Roth's spots (bacterial endocarditis)

Front 88

Severe jaundice in neonate?

Back 88

Crigler-Najjar syndrome (congenital unconjugated hyperbilirubinemia)

Front 89

Severe RLQ pain with rebound tenderness?

Back 89

McBurney's sign (appendicitis)

Front 90

Short stature, Increase incidence of tumors/ leukemia, aplastic anemia?

Back 90

Fanconi's anemia (genetically inherited; often progresses to AML)

Front 91

Subperiosteal resorption with cystic degeneration?

Back 91

Hyperparathyroidism (increase of osteoclastic activity which results in increased bone resorption. Primarily involves the cortical bones (vs osteoporosis which commonly involves the trabecular/spongy bone). Increased resorption of cortical bones results in subperiosteal thinning, a very characteristic feature of hyperparathyroidism)

Front 92

Situs inversus, chronic sinusitis, bronchiectasis?

Back 92

Kartagener's syndrome (dynein defect affecting cilia)

Front 93

Skin hyperpigmentation?

Back 93

Addison's disease (Primary adrenocortical insufficiency of autoimmune or infectious etiology)

Front 94

Slow, progressive muscle weakness in boys?

Back 94

Becker's muscular dystrophy (X-linked,defective dystrophin;less severe than Duchenne's)

Front 95

Small, irregular red spots on buccal/ lingual mucosa with blue-white centers?

Back 95

Koplik spots (measles)

Front 96

Smooth, flat, moist white lesions on genitals?

Back 96

Condylomata lata (Secondary syphilis)

Front 97

Splinter hemorrhages in fingernails?

Back 97

Bacterial endocarditis

Front 98

"Strawberry tongue"?

Back 98

Scarlet fever, Kawasaki disease, toxic shock syndrome

Front 99

Streak ovaries, congenital heart disease, horseshoe kidney?

Back 99

Turner syndrome (X0, short stature, webbed neck, lymphedema)---USMLE: Stillborn fetus delivered at 23 weeks found to have edematous neck and broad chest. Autopsy reveals aortal coractation, bicuspid aortic valve and kidneys fused at midline.

Front 100

Sudden swollen/painful big toe joint, tophi?

Back 100

Gout/podagra (hyperuricemia)

Front 101

Swollen gums, mucous bleeding, poor wound healing, spots on skin?

Back 101

Scurvy (vitamin C deficiency: can't hydroxylate proline/lysinefor collagen synthesis)

Front 102

Swollen, hard, painful finger joints?

Back 102

Osteoarthritis (osteophytes on PIP [Bouchard's nodes], DIP [Heberden's nodes])

Front 103

Systolic ejection murmur (crescendo-decrescendo)?

Back 103

Aortic valve stenosis

Front 104

Thyroid and parathyroid tumors, pheochromocytoma?

Back 104

Sipple's syndrome (MEN 2A)

Front 105

Toe extension/fanning upon plantar scrape?

Back 105

Babinski's sign (UMN lesion)

Front 106

Unilateral facial drooping involving forehead?

Back 106

Bell's palsy (LMN CN VII palsy)

Front 107

Urethritis, conjunctivitis, arthritis in a male?

Back 107

Reiter's syndrome (reactive arthritis associated with HLA-B27)

Front 108

Vascular birthmark (port-wine stain)?

Back 108

Hemangioma (benign, but associated with Sturge-Weber syndrome)

Front 109

Vasculitis from exposure to endotoxin causing glomerular thrombosis?

Back 109

Shwartzman reaction (following second exposure to endotoxin)

Front 110

Vomiting blood following esophagogastric lacerations?

Back 110

Mallory-Weiss syndrome (alcoholic and bulimic patients)

Front 111

"Waxy" casts with very low urine flow?

Back 111

Chronic end-stage renal disease

Front 112

WBC casts in urine?

Back 112

Acute pyelonephritis

Front 113

Weight loss, diarrhea, arthritis, fever, adenopathy?

Back 113

Whipple's disease (Tropherpa whippelii)-a malabsoprtion syndrome that affects small intestine, joints, and CNS- PAS-positive macrophages in intestinal lamina propria. Other symptoms: arthralgias, cardiac and neurologic symptoms. Treat with antibotics

Front 114

"Worst headache of my life"?

Back 114

Subarachnoid hemorrhage

Front 115

Anticentromere antibodies?

Back 115

Scleroderma (CREST)

Front 116

Antidesmoglein (epithelial) antibodies?

Back 116

Pemphigus vulgaris (blistering)

USMLE:

Pt presents with painful skin lesions in his mouth for 2 months. He relates that the lesions have not healed during this time but says he did not seek treatment b/c he thought they would go away on their own. On exam, there are erosions of the buccal and gingival mucosa and flaccid bullae with erosins scattered over his trunk. The blisters spread laterally with pressure and traction on seemingly uninvolved skin produce bullae. Autoantibodies directed against what? desmosomes (specifically desmoglein 3 and 1)-responsible for cell to cell adhesion
-Oral mucosa most commonly involved
-The bullae spread laterally with pressure (Asboe-Hansen sign)
-New bullae may form with gentle traction (Nikolsky sign)
-PAINFUL bullae (vs BP which are itchy)
-Associated with thyomas of myasthenia gravis
-Intraepidermal blisters (vs BP subepidermal blister)

Front 117

Anti-glomerular basement membrane antibodies?

Back 117

Goodpasture's syndrome (glomerulonephritis and hemoptysis)

Front 118

Antihistone antibodies?

Back 118

Drug-induced SLE (hydralazine, isoniazid, phenytoin, procainamide)

Front 119

Anti-lgG antibodies?

Back 119

Rheumatoid arthritis (systemic inflammation, joint pannus, boutonniere deformity, rheumatoid nodules-Nodules with fibrinoid necrosis surrounded by palisading histocytes-KAPLAN! and bakers cyst)

Front 120

Anti-mitochondrial antibodies (AMAs)?

Back 120

Primary biliary cirrhosis (female, cholestasis, portal hypertension)

Front 121

Anti-neutrophil cytoplasmic antibodies (ANCAs)?

Back 121

Vasculitis(c-ANCA:Wegener's; p-ANCA:microscopic polyangiitis,Churg-Strauss syndrome)

Front 122

Antinuclear antibodies (ANAs: anti-smith and anti-dsDNA)?

Back 122

SLE (type Ill hypersensitivity)

Front 123

Amebiasis, bloody diarrhea, liver abscess and cysts with 4 nuclei in them?

Back 123

Entamobea histolytica: transmitted by cysts in water

KAPLAN:

43 yr old male with history of polysubstance abuse and psychosis is involuntarily admitted to hospital b/c of persistent bloody diarrhea for past week. Stool shows spherical, quadrinucleate (cysts with 4 nuclei), thin walled cysts. Infection caused by? Entamoeba histolytica

Front 124

Anti-topoisomerase antibodies?

Back 124

Diffuse systemic scleroderma

Front 125

Anti-transglutaminase/antigliadin/
anti-endomysial antibodies?

Back 125

Celiac disease (diarrhea, distention, weight loss)

Front 126

Azurophilic granular needles in leukemic blasts?

Back 126

Auer rods (acute myelogenous leukemia: especially the promyelocytic type)

Front 127

"Bamboo spine" on x-ray?

Back 127

Ankylosing spondylitis (chronic inflammatory arthritis: HLA-B27)

Front 128

Basophilic nuclear remnants in RBCs?

Back 128

Howell-Jollybodies (due to splenectomy or nonfunctional spleen)

Front 129

Basophilic stippling of RBCs?

Back 129

Lead poisoning or sideroblastic anemia

Front 130

Bloodytap on LP?

Back 130

Subarachnoid hemorrhage

Front 131

"Boot-shaped" heart on x-ray?

Back 131

Tetralogy of Fallot, RVH

Front 132

Branching gram-positive rods with sulfur granules?

Back 132

Actinomyces israelli

Front 133

Bronchogenic apical lung tumor?

Back 133

Pancoast's tumor (can compress sympathethic ganglion and cause horners syndrome)

Front 134

"Brown" tumor of bone?

Back 134

Hemorrhage (hemosiderin) causes brown color of osteolytic cysts.


Due to:

1. Hyperparathyroidism

2. Osteitis fibrosa cystica

Front 135

Cardiomegaly with apical atrophy?

Back 135

Chagas' disease. also causes achalasia, dilated cardiomyopathy, megacolon, megaesophagus. (Trypanosoma cruzi- from REDUVIID bug aka kissing bug-KAPLAN!. Causes a painless bite (Treatment: Nifurtimox)

Front 136

Cellular crescents in Bowman's capsule?

Back 136

Rapidly progressive crescentic glomerulonephritis

Front 137

"Chocolate cyst" of ovary?

Back 137

Endometriosis (frequently involves both ovaries)

Front 138

Circular grouping of dark tumor cells surrounding pale neurofibrils?

Back 138

Homer Wright rosettes (neuroblastoma, medulloblastoma, retinoblastoma)

Front 139

Colonies of mucoid Pseudomonas in lungs?

Back 139

Cystic fibrosis (CFTR mutation in Caucasians resulting in fat-soluble vitamin deficiency and mucous plugs)

Front 140

Degeneration of dorsal column nerves?

Back 140

Tabes dorsalis (Primary syphilis)

Front 141

Depigmentation of neurons in substantia nigra?

Back 141

PD

Front 142

Desquamated epithelium casts in sputum?

Back 142

Curschmann's spirals (bronchial asthma; can result in whorled mucous plug-'

Front 143

Disarrayed granulosa cells in eosinophilic fluid?

Back 143

Call-Exner bodies (granulosa-theca cell tumor of the ovary)

Front 144

Dysplastic squamous cervical cells with nuclear enlargement and hyperchromasia?

Back 144

Koilocytes (HPV: predisposes to cervical cancer)

Front 145

Enlarged cells with intranuclear inclusion bodies?

Back 145

"Owl's-eye" appearance of CMV (can cause cholecysitis)

Front 146

Enlarged thyroid cells with ground-glass nuclei?

Back 146

"Orphan Annie" eye nuclei (papillary carcinoma of the thyroid)

Front 147

Eosinophilic cytoplasmic inclusion in liver cell?

Back 147

Mallory bodies (alcoholic liver disease)

Front 148

Eosinophilic cytoplasmic inclusion in nerve cell?

Back 148

Lewy body (Parkinson's disease)

Front 149

Eosinophilic globule in liver?

Back 149

Councilman body (hepatitis or often yellow fever)-Acute viral hepatitis causes hepatocyte apoptosis and necrosis. Apoptotic hepatocytes shrink, undergo nuclear fragmentation and become intensely eosinophillic. They form round acidophillic (pink staining on H&E) bodies known as councilman bodies or apoptotic bodies-USMLE!

Front 150

Eosinophilic inclusion bodies in cytoplasm of hippocampal nerve cells?

Back 150

Rabies virus (Lyssa virus)

Front 151

Extracellular amyloid deposition in gray matter of brain?

Back 151

Senile plaques (Alzheimer's disease)

Front 152

Giant B cells with bi-lobed nuclei with prominent inclusions ("owl's eye")?

Back 152

Reed-Sternberg cells (Hodgkin's lymphoma)

Front 153

"Hair-on-end" (crew-cut) appearance on x-ray?

Back 153

B-thalassemia, sickle cell anemia (extramedullary hematopoiesis)

Front 154

hCG elevated?

Back 154

Choriocarcinoma, hydatidiform mole (occurs with and without embryo)

Front 155

Heart nodules (inflammatory)?

Back 155

Aschoff bodies (rheumatic fever)

Front 156

sore throat, fever, cervical lymphadenopathy and spenomegaly with heterophile antibodies?

Back 156

Infectious mononucleosis (90% caused byEBV-also causes nasopharyngeal carcinoma and Burkitts lymphoma-USMLE!) Other causes of non-EBV infectious mononucleosis include HIV, toxoplasmosis, CMV

Front 157

Hexagonal,double-pointed, needle-like crystals in bronchial secretions?

Back 157

Bronchial asthma (Charcot-Leyden crystals: eosinophilic granules that contain major basic protein-potent anti-hemilnithic toxin that can damage epithelial cells and endothelial cells in asthma pts-USMLE!)

Front 158

High level of D-dimers?

Back 158

DVT, pulmonary embolism, DIC

Front 159

Hilar lymphadenopathy, peripheral granulomatous lesion in middle or lower lung lobes (can calcify)?

Back 159

Ghon focus (ONLY in Primary TB:Mycobacterium bacilli)

Front 160

Weakness, hypotonia, hypoketonic, hypoglycemic?

Back 160

Carnitine deficiency
-Carnitine (derviative of lysine) is required to shuttle the fatty acyl coa from cytoplams to mitochondria for beta oxidation
-No carnitine=no beta oxidation=no ketones made

Kaplan:

6 month old girl is brought to physician b/c of persistent wekness. Labs show hypoglycemia, hyperammonia, myoglobinuria.

VS

Acyl CoA dehydrogenase
-Increase in dicarboxylic acids
-Decrease in glucose and ketones

USMLE:

12 yr old male fasts for 20 hrs on long trip. He then develops vomiting and lethargy and is brought to ER by his family. In the ER, he begins to have a seizure and is found to have hypoglycemia and low plasma ketone level. What enzyme is def? Acyl-CoA dehydrogenase

-With prolonged starvation, several tissues shift to rely on lipid dervived fuels like free fatty acids and ketone bodies instead of glucose for energy. Breakdown of triglycerides releases fatty acids, which are then metabolized to ketone bodies via b-oxidation within mitochondria.
-This pt failed to produce ketone bodies during fasting, likely due to impaired b-oxidation. A defect in acyl-coa dehydrogenase (catalyzes first step in mitochondria for beta oxidation) is most likley responsible.

Front 161

Hyper segmented neutrophils?

Back 161

Megaloblastic anemia (B12, folate deficiency)

Front 162

Yellow CSF?

Back 162

Xanthochromia (subarachnoid hemorrhage)-Its presence in a clinical scenario suggestive of SAH is the most sensitive test for diagnosing SAH-USMLE!

Front 163

"Wire loop" glomerular appearance on LM?

Back 163

Lupus nephropathy

Front 164

WBCs that look "smudged"?

Back 164

CLL (almost always B cell; affects the elderly)

Front 165

Triglyceride accumulation in liver cell vacuoles?

Back 165

Fatty liver disease (alcoholic or metabolic syndrome)

Front 166

"Tram-track" appearance on LM?

Back 166

Membranoproliferative glomerulonephritis

Front 167

Thyroid-like appearance of kidney?

Back 167

Chronic bacterial pyelonephritis

Front 168

"Thumb sign" on lateral x-ray?

Back 168

Epiglottitis (Haemophilus influenzae)

Front 169

Thrombi made of white/red layers?

Back 169

Lines of Zahn (arterial thrombus, layers of platelets/RBCs)

Front 170

"Tennis-racket-shaped cytoplasmic organelles(EM) in Langerhans cells?

Back 170

Birbeck granules (histiocytosis X: eosinophilic granuloma)

Front 171

Stippled vaginal epithelial cells?

Back 171

"Clue cells" (Gardnerella vaginalis)

Front 172

Precocious puberty, parinaud syndrome and obstructive hydrocephalus?

Back 172

Germinomas (most common tumor of the pineal gland)-USMLE, NMBE!

1. Precious puberty: growth of facial hair along with enlarged genitalia in a boy younger than 9 yrs or appearance of secondary sexual characteristics before age 7 in a girl
-Other causes of precious puberty: congenital adrenal hyperplasia and ovarian/adrenal tumors but precocious puberty plus neurologic abnormalities (such as paralysis of upward gaze) suggests a hrormone secreting brain tumor

2. Parinaud syndrome: paralysis of upward gaze
-aka dorsal midbrain syndrome
-This neurological finding is consistent with a tumor of pineal region

-Germinomas are the most common tumor of the pineal gland
-maligant tumors throught to originate from embryonic germ cells

S/S
1. Precocious puberty: caused by b-HCG production
2. Aqueductal compression: obstructive hydrocephalus
3. Parinaud syndrome: paralysis of upward gaze and of convergence-these symptoms occur due to compression of tectal area of midbrain

USMLE:
4 yr old Asian boy is brought to your office by his mother b/c of facial hair growth. PE shows enlarged genitalia, pubic hair growth and impaired upward gaze. Most likley site of the brain lesion? pineal gland


All tumors involving the pineal gland are rare; most (50% to 70%) arise from sequestered embryonic germ cells. They most commonly take the form of so-called germinomas, resembling testicular seminoma or ovarian dysegerminoma. Other lines of germ cell differentiation include embryonal carcinomas; choriocarcinomas; mixtures of germinom, embryonal carcinoma, and choriocarcinoma; and, uncommonly, typical teratomas (usually benign). Whether to characterize these germ cell neoplasms as pinealomas is still a subject of debate, but most pinealophiles favor restricting the terms pinealoma to neoplasms arising from the pineocytes.
A pineal tumor can compress the superior colliculi and pretectal area of the dorsal midbrain, producing Parinaud's syndrome. Pineal tumors also can cause compression of the cerebral aqueduct, resulting in a noncommunicating hydrocephalus.

Kaplan: 15 yr old boy is brought to dr by his mother b/c of HAs. PE shows paralysis of upward gaze, bilateral papilledema and pupils that react to accomodation but not to direct light. A CT scan of the head shows a tumor. Compression of which of the following structures is most likely responsible for the upward gaze deficit in this pt? Superior colliculus

Front 173

"Spikes" on basement membrane, "dome-like" endothelial deposit?

Back 173

Membranous glomerulonephritis (may progress to nephrotic syndrome)

Front 174

"Soap bubble" in femur or tibia on x-ray?

Back 174

Giant cell tumor of bone (generally benign)

Front 175

Silver-staining spherical aggregation of tau proteins in neurons?

Back 175

Pick bodies (Pick's disease: progressive dementia, similar to Alzheimer's)

Front 176

Sheets of medium-sized lymphoid cells ("starry sky"appearance on histology)?

Back 176

Burkitt's lymphoma (t[8:14] c-myc activation, associated with EBL)

KAPLAN: A 67 yr old woman comes to dr b/c of abd discomfort and weight loss. Pelvic exam shows left sided ovarian mass. The mass is resected and histologic exam shows small lymphocytes, interspersed with macrophages surrounded by clear spaces. What is the abnormality? c-myc

Burkitt Lymphoma ("Starry-sky" appearance)
-Presents as jaw lesion in Africa (associated with EBV)
-Presents as pelvic or abd mass here in US
-8,14 translocation and c-myc activation

Front 177

Sharply demarcated, erythematous rash with large hemorrhagic bullae a few days after recieving prophylatic anticoagulant?

Back 177

Warfarin skin necrosis
-associated with decreased protein c levels (normally inhibits coagulation by inhibiting factor 5 and 8
-Lesions are sharply demarcated, erythematous, indurated and purpuric and may progress to large, irregular, hemorrhagic bullae with eventual necrosis, located especially on breasts, thighs and buttocks

Kaplan:
-58 yr od man undergoes mitral valve replacement. Oral and peripheral IV treatments with anticoagulants and prophylatic antibotics is begun following surgery. Five days later, she develops a sharply demarcated, erythematous rash on her left thigh. 2 days later, large hemorrhagic bullae begin to form in the area of the rash. Drug responsible? Warfarin

Warfarin also associated with:
1. cholesterol embolism
2. "Purple toes syndrome"
3. Easily brusiability
4. dizziness

Front 178

Rhomboid crystals, positively birefringent?

Back 178

Pseudogout (calcium pyrophosphate dihydrate)

Front 179

Renal epithelial casts in urine?

Back 179

Acute toxic/viral nephrosis

Front 180

Rectangular, crystal-like, cytoplasmic inclusions in Leydig cells?

Back 180

Reinke crystals (Leydig cell tumor)

Front 181

Acute onset headache, visual field defects and cortisol deficiency in a pregnant pt?

Back 181

Autoimmune hypophysitis (inflammation of hypophysis or pituitary) conditon seen during late pregnancy or early postpartum period. Both the anterior and posterior pituitary become inflamed. For unknown reasons, cortisol deficieny develops more commonly than other hormonal deficiencies. Differs from sheehans syndrome in the presence of visual field defects and the acuity of presentation

Front 182

Pseudopalisading tumor cells on brain biopsy

Back 182

Glioblastoma multiforme

Front 183

Protein aggregates in neurons from hyperphosphorylation of protein tau?

Back 183

Neurofibrillary tangles (Alzheimer's disease and CJD)

Front 184

Polished, "ivory-like" appearance of bone at cartilage erosion?

Back 184

Eburnation (osteoarthritis resulting in bony sclerosis)

Front 185

Bluish lesion under fingernail tender to touch?

Back 185

-Bluish neoplasm in nail bed can be either:
1. Subungual melanoma: composed of melanocytes-pigmentation
2. Glomus tumor (glomangioma)-tumor of modified smooth muscle cells of a glomus body-small encapsulated neurovascular organs found in the dermis of nail bed, pads of fingers and toes, ears. Each glomus body is composed of afferent arteriole and efferent vein.
-Fxn: shunt blood away from skin surface in cold temps in order to prevent heat loss, and to direct blood flow to the skin surface in hot environments to facilitate the dissipation of heat. (READ: thermoregulation)


USMLE: A 34 yr old female presents with small bluish lesion under nail of her right index finger. The lesion is extremely tender to touch. If the lesion is a tumor, its cells of origin are most likley to have what fxn? Thermoregulation

Front 186

Periosteum raised from bone, creating triangular area?

Back 186

Codman's triangle on x-ray (osteosarcoma, Ewing's sarcoma, pyogenic osteomyelitis)

Front 187

"Onion-skin" periosteal reaction?

Back 187

Ewing's sarcoma (malignant round-cell tumor)

Front 188

"Nutmeg" appearance of liver?

Back 188

Chronic passive congestion of liver due to right heart failure

Front 189

Nodular hyaline deposits in glomeruli?

Back 189

Kimmelstiel-Wilson nodules (diabetic nephropathy)

Front 190

Needle-shaped, negatively birefringent crystals?

Back 190

Gout (hyperuricemia)

Front 191

Narrowing of bowel lumen on barium radiograph?

Back 191

"String sign" (Crohn's disease)

Front 192

Mucin-filled cell with peripheral nucleus?

Back 192

Signet ring (gastric carcinoma)

Front 193

Monoclonal globulin protein in blood/urine?

Back 193

Bence Jones proteins (multiple myeloma kappa or lambda Ig light chains in urine]), Waldenstrom's macroglobulinemia (IgM)

Front 194

Gingviostomatitis, fever and lymphadenopathy in children age 1-3?

Back 194

Herpesvirus (HSV-1)
-Acute gingiostomatits in children age 1-3 yrs is most common clinical manifestation of primary infection with HSV-1 (there are few, if any other illnesses associated with this specific clinical presentation)
-Intranuclear inclusions are characteristic of herpesviruses, which replicate predominantly within host cell nucleus
-Herpes viruses (enveloped DS DNA virus)

USMLE:
A 2yr old male is brought to clinic with fever, irritability, decreased oral intake. PE shows swollen gums with ulcerative lesions and enlarged tender cervical lymph nodes. Oral lesions demonstrate cells with intranuclear inclusions. Which of the following is responsible for this pts disease? Enveloped DS DNA virus

USMLE:

5 yr old male is brought to clinic with several day history of fever, irritability, and refusal to eat. PE shows painful gingival ulcers, swollen gums and cervical LAD.
Cause? Primary infection

-Use Tzanck smear
-Presence of multinucleated giant cells with some intraceullar inclusions suggests HSV or VZV
-Herpetic gingivostomatitis is the most common clinical manifestation of primary herpes simplex (HSV-1) infection
-Occurs mostly in children aged 1-3yrs and results in fever, vesiculoulcerative lesions of oral mucous membranes and localized lymphadenopathy
-Recurrent lesions tend to be confined to one side and the area of involvement is less extensive than primary.
-Herpetic fever blisters or "cold sores" tend to favor the facial skin around mucosal orifice, including the lips and nose (instead of gums and oral mucosa in primary)

Front 195

Lytic ("hole-punched") bone lesions on x-ray?

Back 195

Multiple myeloma

Front 196

"Lumpy-bumpy" appearance of glomeruli on immunofluorescence?

Back 196

Post streptococcal glomerulonephritis (immune complex deposition of IgG and C3b UNDER EPITHELIUM-SUB-EPITHELIUM DEPOSTION)

Front 197

Low serum ceruloplasmin?

Back 197

Wilson's disease (hepatolenticular degeneration)

Front 198

Large lysosomal vesicles in phagocytes, immunodeficiency?

Back 198

Chediak-Higashi disease (congenital failure of phagolysosome formation)-USMLE: 4 yr old pt presented with recurrent skin and resp infections. He has light skin and silvery hair. Horizonatal nystagmus is present on eye exam and blood smear shows giant cytoplasmic granules in neutrophils and monocytes.

Front 199

Iron-containing nodules in alveolar septum?

Back 199

Ferruginous bodies (asbestosis: Increase chance of mesothelioma)

Front 200

lntranuclear eosinophilic droplet-like bodies?

Back 200

Cowdry type A bodies (HSV or yellow fever)

Front 201

Increased uric acid levels?

Back 201

Gout, Lesch-Nyhan syndrome, tumor lysis syndrome, loop and thiazide diuretics

Front 202

Increased a-fetoprotein in amniotic fluid/ maternal serum?

Back 202

Anencephaly, spina bifida (neural tube defects)

Front 203

Gatric hypertrophy with protein loss, parietal cell atrophy, and increase in mucous cells?

Back 203

Menetriers disease
-AKA protein losing gastroenteropathy
-A hyperplasic gastropathy characterized by enlarged rugal folds b/c of the increased proliferation of the mucus producing cells of the stomach
-Increase mucus production leads to protein losses from excessive gastric secretions and may cause hypoalbuminemia and peripheral edema
-The ruguae of stomach are so hypertrophied that they look like brain gyri

Kaplan:
a 48 yr old man comes to dr with diarrhea, weight loss, epigastric discomfort. He undergoes upper endoscopy which shows diffusely thickened rugal folds. Gastric biopsy shows significant hyperplasia of superficial mucous cells with scant gastric glands. If untreated, he is at increased risk of loss from what? protein

Front 204

Monoclonal antibody spike?

Back 204

1. Multiple myeloma (called the M protein; usually IgG or IgA)

2. Monoclonal gammopathy of undetermined significance (MGUS; normal consequence of aging)

3. Waldenstrom's (M protein= IgM) macroglobulinemia

4. Primary amyloidosis

Front 205

Free air in mediastinum on chest xray?

Back 205

BOERHAAVE SYNDROME (PG 322)-Transmural esophageal rupture due to violent retching. More severe than Mallory weis. (Dude what are you doing, you just booered a hole through your esophagus???????)


VS


Mallory weis syndrome: mucosal and submucosal (NOT muscularis so not a transmural laceration).

Front 206

Diarrhea, growth retardation and hypoproteinemia?

Back 206

Enteropeptidase defiency: activates trypsinogen into trypsin in the dudoenum normally. Tryspin then activates other proteolytic enzumes which normally would break down protein in diet for absorption.

Front 207

Thromboembolis--> strokes, MI and features of marfan syndrome (tall stature, kyphosis, arachnodactyl, scolosis, elongated limbs, ectopic lentis?

Back 207

Homocystinuria (caused by cystathionine synthestase def or B6 def)

Homocysteine is toxic to collagen formation-->ocular and skeletal malformations

Front 208

Elderly pt with dementia, hemiparesis, and lung consolidation (dense airspace opacities on xray)?

Back 208

aspiration pneumonia (swallowing muscle dysfunction-USMLE)

Front 209

Main/most important allosteric activator of PFK-1 (glycolysis)?

Back 209

Fructose 2, 6 bisphosphate (this enzyme inhibits fructose 1, 6 bisphosphaTASE which normally converts F 1,6 BP to F6P in gluconeogenesis). Negative regulators: citrate and ATP

Front 210

abdominal pain, hypotension, hyperventilation?

Back 210

hypotension-->hypoperfusion of tissue (abd pain)--->build up lactic acid (metabolic acidosis and increased anion gap (Na-HCO3-+Cl-)--->hyperventilate to try to blow off acid (CO2)

Front 211

cheilosis (inflammation of lips, scaling and fissures) at corners of mouth and corneal vascularization in a malnourished pt or alcoholic?

Back 211

Vitamin B2 (riboflavin) defiency- the 2 C'S

Riboflavin needed for:

1. PDH (along with the 4 other enzymes: niacin for NAD+, lipoic acid, thiamine for TPP and Conenzyme A)
2. Alpha keto gluturate dehydraogenase (TCA)
3. Transketolase
4. Branched chain amino acid dehydrogenase (maple syrup urine disease)
5. Succinate---> fumurate in TCA (by succinate dehydrogenase which makes FAD2+)


Other S/S:

1. Glossitis
2. Seborrheic dermatitis
3. Anemia

Front 212

High levels of arginine and spastic paresis and/or choreoathetoid movements?

Back 212

Arginase defiency (converts arginine to urea and orthinine in last step urea cycle-cytoplasm) If def=arginine builds up and causes neurological damage

TREATMENT: low protein diet that is devoid of arginine

Administration of a synthetic protein made of essential amino acids usually results in a dramatic decreae in plasma arginine conc and improvement in neurologic abnormalitities.

Front 213

Allosteric activates CPS I of urea cycle?

Back 213

N-acetylglutamate (formed by N-acetylglutamate synthesase from glutamate and acetyl coa)

CO2 and NH4+-----CPS I (rate limiting step)---->Carbamyol phosphate+Ornithine------(OTC)--->Citrulline

Front 214

Long, thin extremeties, long fingers (arachnodactyl), dislocation of lens (ectopic lentis), mitral valve prolapse?

Back 214

Marfan syndrome (fibrillin defect)-->aortic aneurysm and dissection also

Front 215

Coarse face features, clouded cornea, restricted joint movemnt, high plasma levels of lysosomal enzymes?

Back 215

I-cell disease: failure of additon of MANNOSE-6-PHOSPHATE to proteins targeted to lysosome. Enzymes are secreted outside the cell instead of being targeted to lysosome.

KAPLAN: 6 month boy is brought to physician by his parents, who are first cousins, for a well child exam. The boy appears thin, small and lethargic. PE shows slightly misshapen long bones. Joint movements are restricted, the corneas are clouded and gums are hyperplastic. Labs show elevated levels of acid hyrolases and glycosylases (lysosomal enzymes). What metabolic activity is most likely defective? phosphorlation of mannose moieties in golgi

Front 216

Recurrent pyogenic infections, partial albinism and peripheral neuropathy?

Back 216

Chediak-Higashi syndrome (microtubule polymerization defect resulting in decreased phagocytosis)

C: Chediak
A: Albinism
I: Infections
N: Neuropathy

Front 217

Marfans syndrome, MEN 2B and homocystinuria?

Back 217

locus heterogeneity:

mutations at different loci can produce same phenotype (EX: Marfans syndrome, MEN 2B and homocystinuria--->all produce marfanoid habitus)

Front 218

Mental retardation, hyperphagia, obesity, hypogonadism, hypotonia?

Back 218

Both syndromes due to inactivation or deletion of genes on chromosome 151

Prader-Willi syndrome (example of imprinting-at a single locus, only 1 allel is active b/c the other is inactivated by methylation)


VS

Angel man syndrome (deletion of active maternal allele)--> mental retardation, seizures, ataxia, inappropriate laughter (happy puppet)

Front 219

Telangiectasia/spider like lesions on oral and nasal mucosa, face arms, recurrent epsistaxis/nosebleeds, skin discolarations, AVMs?

Back 219

Hereditary hemorragic telangiectasia (Osler Weber Rendu Syndrome)--Autosomoal Dominiant-USMLE!

Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu disease and Osler-Weber-Rendu syndrome, is a genetic disorder that leads to abnormal blood vessel formation in the skin, mucous membranes, and often in organs such as the lungs, liver and brain. Rupture of these telangiectasia may cause epistaxis, GI bleeding, hematuria.
It may lead to nosebleeds, acute and chronic digestive tract bleeding, and various problems due to the involvement of other organs. Treatment focuses on reducing bleeding from blood vessel lesions, and sometimes surgery or other targeted interventions to remove arteriovenous malformations in organs. Chronic bleeding often requires iron supplements and sometimes blood transfusions. HHT is transmitted in an autosomal dominant fashion, and occurs in one in 5,000 people.[1][2]

USMLE: 22 yr old male who has recurrent severe nosebleeds is found to have pink spider like lesions on oral and nasal mucosa, face and arms. The pt most likely suffers from? OWR syndrome

Front 220

facial lesions, hypopigmented "ash leaf spots" on skin, Cortical and retinal hamartomas and Cardiac rhabdomyomas?

Back 220

Tuberous sclerosis: (Autosomal dominant)

1. facial lesions (adenoma sebaceum)
2. hypopigmented "ash leaf spots" on skin
3. Cortical and retinal hamartomas
4. Seizures
5. Mental retardation
6. Renal cysts
7. Renal angiomyolipomas
8. Cardiac rhabdomyomas!!!!-Cardiac tumor in kids vs Atrial myoxoma in adults

Front 221

Cleft lip/palate, holoprosencephaly, polydactyl, congential heart disease, microcephaly, severe mental retardation?

Back 221

Patau syndrome (trisomy 13) vs Edwards (trisomy 18): lnfant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defect. Due to Roberstonian translocation (chromosomal translocation that involves chromsomal pairs 13, 14, 15, 21, 22 and occurs when long arms of 2 acrocentric chromosomes fuse at the centromere and 2 short arms are lost. Balanced translocations normally do not cause any abnormal phenotype. Unbalanced translocation can result in miscarriage, stillbirth and chromosomal imbalance-Down syndrome and Patau)

USMLE:

An infant born premie is small for the gestational age. PE shows bilateral cleft lip, microcephaly and microphthalmos. Viscera protrude from umbilical opening in childs abd wall. Karotype? trisomy 13

1. Head and neck: severe cleft lip and palate, microphthalamia, cyclops, malformed or absent nose, deafness, scalp defects

2. CNS: severe mental retardation, microcePhaly, holoProsencephay, absent olfactory nerve, neural tube defects

3. Extremities: Polydactyl, rocker bottom feet

4. Cardiac: PDA, ASD, VSD

5. Renal: Polycystic kidney disease

6. GI: abd wall defects associated with omphaolcele or umbilical hernia, pyloric stenosis

Patau= cleft lip/Paltte, holoProsencephaly, Polydactyl, Pda, Polycystic kidney, Pyloric stenosis

Front 222

Microcephaly, moderate to severe mental retardaton, high pitched crying/mewing, epicanthal folds, cardiac abnormalities?

Back 222

Cri-du-chat syndrome:

Congential microdeletion of short arm of chromosome 5

VS

Williams syndrome (deleted gene includes ELASTIN GENE

Congential microdeletion of long arm of chromosome 7

1. distinctive "elfin" facies
2. mental retardation
3. hypercalcemia (increase sensitity to vitamin D)
4. exteme friendlieness with strangers

Front 223

distinctive "elfin" facies, mental retardation, hypercalcemia, exteme friendlieness with strangers and cardiovascular problems?

Back 223

Williams syndrome

Congential microdeletion of long arm of chromosome 7

VS

Cri-du-chat syndrome:

Congential microdeletion of short arm of chromosome 5

Microcephaly, moderate to severe mental retardaton, high pitched crying/mewing, epicanthal folds, cardiac abnormalities

Front 224

Defiency leads to convulsions, hyperirritability, peripheral neuropathy and sideroblastic anemia?

Back 224

Vitamin B6 (pyridoxine) deficiency


peripheral neuropathy (def can be caused by isonasizid or oral contraceptives)

B6 needed for:

1. cofactor in transmainations (ALT, AST)
2. Decarboxylation reactions
3. Cystathionine synthesis
4. Heme synthesis (first step glycine+ succinyl coa---ALA synthase--->aminolevulinic acid)

Front 225

Deficiency leads to hemolytic anemia, muscle weakness and posterior column/spinocebellar tract demyelination?

Back 225

Vitamin e
1. Anti-oxidant (protects RBCs and membranes from free radical damage

Clinical:

Pt with Cystic fibrosis (cant absorb vitamin A, D, E, K)--->decreased propioception (demyelination of posterior column) decreased hyporeflexia

DCML: pressure, vibration, touch, proprioception sensation-crosses in medulla and ascends contralateral in medial lemniscus)

Front 226

Defiency leads to delayed wound healing, hypogonadism, decrease adult hair (axillary, facial, pubic), dysgeusia, ansomia?

Back 226

Zinc deficiency

1. Important in formation of zinc fingers
2. Delayed wound healing (b/c granulation tissue consists of type III collagen which is replaced by collagenase (zince as cofactor) to type I collagen to form a scar
3. May predispose to ALCOHOLIC CIRRHOSIS!!

Front 227

tissue and muscle wasting, loss of subcutaneous fat and variable edema?

Back 227

Marasmus (energy malnutriton from decrease calories)

VS

Kwashiorkor (protein malnutrition resulting in skin lesions, edema, liver malfunction (fatty change due to decrease apolipoprotein synthesis), anemia (from decrease nucleic acids).

Clinical: small child with swollen belly

Would require essential amino acids:
PVT TIME HALL

Phenylalanine
Valine
Tryptophan
Threonine
Isoleucine
Methionine
Histidine
Arginine
Lysine
Leucine

KAPLAN: A local church sponsers a family from Somalia who wants to immigrate to the US. On exam, the children are thin and very protuberant abdomens with large palpable livers. These children would most likley have the greatest def of what amino acid? Leucine

Front 228

Vomiting, rice water stools, garlic breath?

Back 228

Arsenic poisoining (inhibits lipoic acid--required for PDH, a-ketogluturate, branched chain amino acid dehydrogenase-maple urine syrup disease)

No lipoic acid=PDH deficiency=increase pyruvate=increase lactic acidosis-USMLE and maple urine syrup disease

Front 229

Tremor, slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision?

Back 229

Ammonia intoxication
-Can be aquired (liver disease) or hereditary (urea cycle enzyme deficiencies)
-Results in excess NH4+ which depletes a-ketogluturate, leading to INHIBITON of TCA cycle

Treatment:
1. Limit protein in diet
2. Benzoate or phenylbutrate

*both will bind amino acids and lead to excretion)

A 60 yr old man is brought to ER b/c of AMS, ataxia, severe abd distention. Labs show ALT 97 and AST 128. (prob drinks b/c AST>ALT). Serum ammonia levels are elevated. Treatment is begun with a drug that decreases serum ammonia levels. Which of the following best describes the mechanism of the action of the drug?

Acidification of intestinal contents
-Drug: Lactulose
-This pt has hepatic encephalophaty.
-Severe liver disease impairs the capacity to detoxify ammonia generated in the colonic bacterial metabolism of urea
-Normal bacterial flora degrade lactuose into lactic acidosis, formic acid and acetic acid.
-This turns the ammonia into ammonia ion which is excreted

Front 230

Difficulty in walking, tingling or loss of feeling (sensation) in hands/feet, loss of muscle fxn or paralysis of lower legs, involuntary eye movements (nystagmus)?

Back 230

Dry Beriberi (Vitamin B1 thiamine defiency)-->polyneuritis

vs

Wet Berberi

-Affects heart
-Causes heart failure and wakeness of capillary walls/arterioles (b/c no ATP) which causes peripheral tissues to become edematous

S/S:
1. Peripheral edema
2. Increase HR
3. Dyspnea on exertion
4. High output cardiac failure (dilated cardiomyopathy)

Front 231

Excess tryptophan in urine, dementia, loose stools, skin rashes?

Back 231

Hartnup disease
-AR disorder characterized by defective neutral amino acid transporter on renal and interestitial epithelial cells
-Less trypthophan=less niacin=pellagra (dementia, dirrhea, dermatitis)

Front 232

Severe fasting hypoglycemia, Increased glycogen in liver, increased blood lactate , hepatomegaly and hyperlipidemia?

Back 232

Von Gierke disease-Type 1 (deficient glucose 6 phosphatase-last enzyme to free the G6P to free glucose)

Children typically present at 3-4 months of age with HYPOGLYCEMIC SEIZURES. In addition, there is growth retardation, increased serum lactate, increase cholesterol, increased TG, hepatomegaly, kidney enlargment-->protuberant abdomen

Front 233

Increase glycogen in muscles, painful muscle cramps, myoglobinuria with strenous exericise?

Back 233

McArdle disease-Type 5 (defieincy of skeletal muscle glycogen phosphorylase-first enzyme to cleave glucose 1 phosphate from stored glycogen. Missing enzyme=increased glycogen)

Front 234

Normoglycemia, hepatomegaly, cardiomegaly, severe hyptonia, dyspnea?

Back 234

Pompe disease (Type 2): deficiency of lysosomal a 1,4 glucosidase (acid maltase).

Mneumonic: Pompe trashes the pump (heart, liver, muscle)

Histo: will show accumulation of glycogen granules with a single glucose residue (cant debranch)

Front 235

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease?

Back 235

Fabrys disease (along with Hunters syndrome only ones with X-linked recessive inheritance!!-USMLE)

Deficient enzyme: a-galactosidase A which leads to accumulation of ceramide trihexoside

Front 236

Hepatospenomegaly, aseptic necrosis of femur bone crises and macrophages that look like crumpled tissue paper?

Back 236

Gauchers disease (most common lysosomal disease):

1. Gauchers cells (macrophages that look like crumpled tissue paper
2. Only lysosomal storage disease that spares brain. Only affects liver
3. Hepatomegaly, splenomegaly (causing pancytopenia and thrombocytopenia) and bone marrow involvement potentially leading to bone pain, deformities and fractures.

Enzyme deficient: B-glucocerebrosidase which results in accumulation of glucocerebroside

Front 237

Progessive neurodegeneration, hepatosplenomegaly, cherry red spot on macula, foam cells?

Back 237

Niemann-Pick (AR)

Enzyme deficient: Sphinogomyelinase which results in accumulation of Sphinogmyelin

VS

Tay-Sachs

1. Progresive neurodeneration
2. Developmental delay
3. Cherry red spot on macula
4. Lysosomes with onion skin
4. NO HEPATOSPENOMEGALY (vs Niemann-Pick)

Enzyme defiecient: Hexosaminidase A which results in accumulation of GM2 ganglioside

Front 238

Developmental delay, gargoylism, aiway obstruction, corneal clouding?

Back 238

Hurlers syndrome (A mucopolysaccharidoses)

Enzyme deficient: a-L-iduronidase which leads to accumulation of heparan sulfate and dermatan sulfate

VS

Hunters syndrome:


1. Mild Hurlers
2. Agressive behavior
3. NO corneal clouding

Enzyme deficient: Iduronate sulfatase which leads to acucmulation of heparan sulfate and dermatan sulfate

*The ONLY X-linked recessive (along with Fabrys disease: peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease which has deficient A-GALACTOSIDASE enzyme which leads to accumulation of CERAMIDE TRIHEXOSIDE)

Front 239

Imperforate anus and genitourinary tract malformation (such as renal agenesis, hypospadias, epispadias, bladder extrophy, etc)?

Back 239

VACTERL (mesodermal defects) Congential Anomalies

Imperforate anus: result of abnormal development of anorectal structures. Manifests during 1st days of life by inability to pass meconium. The meconium may discharge from urethra or vagina if a fistual is present.

If you see imperforate anus, next step in managment is to check for other anomalies (urogenital tract anomalies the most common--so get ultrasound!!)

V=verterbal defects
A= Anal atresia
C=cardiac anomalies
T= TEF
E= esophageal atresia
R= renal anomies
L= limb anomalies

Front 240

Flacid paralysis of legs, dorsiflexed contractures of feet, urinary incontinence with absence of sacrum??

Back 240

Maternal diabetes as teratogen causing caudal regression syndrome (agenesis of sacrum and occasionally lumbar spine)

(USMLE, FA pg 120)

Front 241

Extremely high risk of sponatenous abortions and birth defects (cleft palate, cardiac abnormalities)?

Back 241

Vitamin A excess (teratogen)


Vitamin A functions:

1. Antioxidant
2. Constituent of visual pigments
3. Essential for normal differernetiation of epithelial cells into specialized tissues (pancreatic cells, conjunctiva, mucus secreting cells)
4. Used for treating measles-USMLE!

Vitamin A excess:
1. Arthralagias
2. Fatigue
3. HA
4. Skin changes
5. Sore throat
6 Alopecia
7. Teratogenic (cleft palate, cardiac abnormalities)--order pregnacny test before isotretinoin is perscribed for severe acne

Vitamin A deficiency:
1. Night blindness
2. Dry skin


FA pg 120

Front 242

Large posterior fossa, absent cerebellar vermis with cystic enlargement of 4th ventricle?

Back 242

Dandy-Walker syndrome: can lead to hydrocephalus and spine bifidia

Front 243

Pt with exposure to cave bats, racoons or skunks and presents with flu like symptoms (malaise, anorezia, mild fever, HA, N/V) then neurologic symptoms (agitation, fever, restlessness, dysphagia)?

Back 243

Rabies exposure
-bullet shaped virus
-Has a vaccine for it (Killed vaccine-so only induces humoral immunity)-USMLE!
-Negri bodies: characteristic cytoplasmic inclusions in neurons (commonly in Purkinje cells of cerebellum)
-Travels to CNS by migrating in a retrograde fashion up nerve axons

Front 244

Hypo or hyperpigmentation of skin more visible after tanning and has "Spaghetti and meatball" appearance on KOH prep?

Back 244

Tinea Versicolor aka Pityriasis Versicolor
-Caused by Malassezia furfur (a cutaneous fungus)
-Degradation of lipids produces acids that damage melanocytes and cause hypopigmented and/or hyperpigmented patches
-The hyphae produces short "cigar butt" appearance (short hyphae and spores-"Spaghetti and meatballs"
-Most causes occur in healthy people with NO immunodeficiency

Front 245

Immigrant from Africa with nodules/thick plaques on upper extremeties that have hypopigmentation, loss of eyebrows and paresis/regional anesthesia of motor and sensory nerves?

Back 245

Leprosy:
-Caused by Mycobacterium leprae (acid fast bacillus that likes cool temps (infects skin and superficial nerves-question may say invadings Schwann cells-USMLE)
-Cannot be grown in vitro
-Get it from ARMADILLOS in SW US

2 Forms:
1. Lepromatous leprosy (more severe form)-occurs in pts with weak cell-mediated TH1 immune response-->no macrophages to kill organism. (The lepromin skin test (similar to PPD) is usually nonreactive in these patients b/c of their weak cell mediated response)
S/S:
1. diffuse skin thickening
2. cutaneous hypopigmentation in plaques (often with hair loss-loss of eyebrows)
3. leonine facies
4. Paresis and regional anesthesia of motor and sensory nerves
5. Testicular desctruction and blindness

2. Tuberculoid leprosy: (least severe): pts with intact immune response. (The lepromid skin test will be positive in these patients because of a stong CD4+ Th1 cell mediated immune response mounted by the host. The cell mediated response activates macrophages to kill the organism, limiting the extent of the disease.
S/S:
1. Mild skin plaques with hypopigentation
2. Hair follicle loss
3. focally decreased sensation

TREATMENT:

Long term oral dapsone (side effect: hemoylsis and methemeoglobinemia)

Kaplan
65 yr old woman recently emigrated from Africa develops thick, erythemaotus nodules on the ears and nose with significant associated sensory loss. The nodules have grown slowly over the course of many years. Biopsy of the lesions shows dermal granulomas with giant cells and a few acid fast bacteria. Cultures on blood agar and Lowenstein-Jensen medium show no growth. Dx? Tubercoid leprosy
-Vs Lerpomatous which is progressive, invasive and generally characteried by presence of NUMEROUS acid fast bacteria in a histiocytic but nongranulomatous tissue response (no macrophages)

Front 246

Enlarged ventricles, intracranial calfications and cotton like white/yellow scars on retina in a neonate?

Back 246

Toxo:
-The most common cause of a ring enhancing brain lesion
-Typically the pts have been exposed in the past and the cysts in the tissue can reactivate when CD4+ drops below 200
-Reactivation typically involves CNS (brain)
-Can present with seizures, AMS, focal neurologic defects
-CNS findings: multiple ring enhancing lesions
-Micro: centrally necrotic, focally hemorrhagic lesions that typically contain both large, round encysted bradyzoites and free, crescent shaped tachyzoites toward the edge of the lesion (cresentic microorganisms and necrosis)-KAPLAN

Congenital toxoplasmosis (a protozoa)
1. Hydrocephalus-->enlarged ventricles
2. Intracranial calcifications
3. Chorioretinitis: cotton like white/yellow scars on retina visible on funduscopy.

*Transmitted transplacentally (in utero)-USMLE and NMBE!!

*Pregnant women should avoid cat litter and cat feces and also from cysts in meat

*Brain abscess in HIV pts (ring enhancing lesions)-USMLE!

*60-70% of population is infected (acquired in childhood) and the parasites persist for lifetime of the patient
-Dosent produce symptoms until immunocomprimised: chemo, AIDS, transplant

TREATMENT: Sufadiazine+Pyrimethamine (USMLE)!!

Front 247

Pt with diarrhea, cough, sodium of 120, altered mental status/confusion, fever, HA?

Back 247

Legionella Pneumophilia:

Gram negative rod (intracellular organism that multiplies in alveolar macrophages-so need T cells to fight it)

Detected clinically by presence of antigen in urine

Transmitted by water source

Grams stains poorly, use SILVER STAIN

Grow on charcoal yeast extract culture with IRON and CYSTEINE

Treat: erythomycin (macrolides for atypicals)

Front 248

Pt with non painful gray vaginal discharge with fishy smell and CLUE cells on microscope?

Back 248

Gardnerella Vaginallis (gram variable rod)--causes Bacteriol Vaginosis (Positive whiff test) and has cue cells (vaginal squamous epithelial cells covered in small dark particles. (G. Vaginalis organisms)

BV-characterized by overgrowth of certain bacteria in vagina (NOT an STD but associated with sexual activity)

Treat: Metronidazole

VS

Trichomonas Vaginalis (a protozoa)
-A STD
-S/S: foul-smelling, greenish discharge with itching and burning
-DX: motile trophozoites on wet mount

Treat: Metronidazole (causes disufram like rxn)

USMLE: 32 yr old female presents to your office with gray vaginal discharge. Wet mount preparation of the discharge reveals moderate leukocytes and numerous squamous epithelial cells covered with adherent bacteria. DX? Gardnerella vaginalis

Front 249

Methenamine silver stain showing numerous small, disk shaped organisms in a pt with CD4+ count of 190?

Back 249

Pneumocystis Jiroverci/Carni:
-Causes diffuse intersitial pneumonia-->diffuse, bilateral CXR with butterly infiltrates
-Extracellular fungus
-TREAT: when CD4+ drops below 200 give TMP-SMX (bactrim)-which will also prevent toxoplasmosis

Front 250

Oral thrush, Interstitial pneumonia, severe lymphopenia in neonate?

Back 250

HIV transmission from mom (Give AZT-if given during pregnancy, it reduces transmission by 2/3 in HIV+ women) Side effects of AZT: bone marrow suppression which can be reversed with G-CSF and EPO), peripheral neuropathy and megagoblastic anemia). SIDE NOTE: Protease inhibitor side effects: hyperglycemia-USMLE, lipodystrophy, inhibiton of p450)

Front 251

Fever, urticaria, arthralagias, proteinuria, lymphadenopathy 5-10 days after drug exposure?

Back 251

Serum sickness (Type III)

Front 252

Coarse facies, cold (non inflammed) staphylococcal abscesses, retained primary teeth, increase IgE, dermatologic problems (eczema)?

Back 252

Hyper IgE syndrome (Jobs syndrome)
-Th cells fail to produce IFN-gamma=inability of neutrophils to respond to chemotactic stimuli

FATED:

Facies (coarse)
Absesses (non inflammed-staphylococcal)
Teeth (retained primary teeth)
E (Increased IgE)
D (dermatologic problems-eczema)

Front 253

Recurrent infections, absent pus formation and delayed separation of umbilicus?

Back 253

Leukocyte adhesion deficiency:
-Defect in LFA-1 intergrin (on white blood cell to allow tight binding to ICAM on vasculature-KAPLAN)
-A phagoycyte dysfunction disorder

Front 254

Restrictive heart disease with endomyocardial fibrosis and eosinophillia?

Back 254

Loeffler endocarditis (common in tropical/tempearate climates)-direct toxicity to heart by proteins (eosinophil ribonuclease and eosinophil major basic protein) in eosinophil granules designed to kill large parasites.
VS Endocardial fibroelastosis which produces a restrictive pattern also but a disease of young children

Front 255

prolonged QT interval and sesorineural deafness?

Back 255

Jervell and Lange-Nielson syndrome-USMLE!

Mutations in the KCNE1 and KCNQ1 genes cause Jervell and Lange-Nielsen syndrome. The proteins produced by these two genes work together to form a potassium channel that transports positively charged potassium ions out of cells. The movement of potassium ions through these channels is critical for maintaining the normal functions of the inner ear and cardiac muscle.
About 90 percent of cases of Jervell and Lange-Nielsen syndrome are caused by mutations in the KCNQ1 gene. Mutations in these genes alter the usual structure and function of potassium channels or prevent the assembly of normal channels. These changes disrupt the flow of potassium ions in the inner ear and in cardiac muscle, leading to the hearing loss and irregular heart rhythm characteristic of Jervell and Lange-Nielsen syndrome.

USMLE: A 12 lead EKG obtained on a 6yr old male with family history of sudden death shows QT prolongation. Which of the following will most likely accompany this pts condtion? Neurosensory deafness

Front 256

Can result in aortic regurgitation and associated with bicuspid aortic valve?

Back 256

Post ductal (adult type) coarctation of aorta-also the high pressures in upper ext (low pressure in lower ext) can result in HTN proximal to constriction and rupture of berry aneurysms--->subarachnoid bleed-USMLE

Front 257

Pt with hypocalcemia, absent shadow on xray and increased bacterial/fungal infections has increased risk of what cardiac defects?

Back 257

DeGeorge syndrome--> increase risk of truncus arterious and tetralogy of fallot. (CATCH 22). Abnormal facies: hypertelorism, micrognathia, short philtrum. (Antibodies may be decreased also b/c need Th2 T cells to isotype switch with help of cytokines and dont have T cells b/c no thymus)

Front 258

corneal arcus in a pt with history of MI?

Back 258

Lipid deposit in cornea, non specific-white ring around cornea (arcus senilis)-Hyperlipidemia sign

Front 259

Granulomatous vasculitis with eosinophilia, asthma, sinusitis, skin lesions and wrist/foot drop?

Back 259

Churg-Strauss syndrome-USMLE!
-Pepherial neuropathy (wrist/foot drop) and can also involve heart, GI, kindeys
-p-ANCA positive (myeloperoxidase)
-Lots of eosinophils predisposes to adult onset asthma
-Necrotizing granulomas which can cause a coronary arteritis

Churg–Strauss syndrome (also known as "Allergic granulomatosis"[1]) is a medium and small vessel autoimmune vasculitis, leading to necrosis. It involves mainly the blood vessels of the lungs (it begins as a severe type of asthma), gastrointestinal system, and peripheral nerves, but also affects the heart, skin and kidneys. It is a rare disease that is non-inheritable and non-transmissible.

Front 260

port-wine stain on face, ipsilateral leptomeningeal angiomatosis, seizures, early onset glaucoma?

Back 260

Sturge-Weber disease

Congenital vascular disorder that affects capillary sized blood vessels. NOT inherited! (most cases sporadic)

1. Port wine stain (aka nevus flammeus) on face
2. ipsilateral leptomeningeal angiomatosis (intracerebral AVM)
3. seizures, hemiplegia
4. early onset glaucoma
5. Skull radiopacities may show characteristic "tram track calcifications"
6. Mental retardation is often present

Kaplan:
24 yr old woman gives birth at 40 weeks gestation. Exam of the newborn shows a large nevus flammeus on his face, extending into the scalp on the right side. Which of the following is most likely to be also present in this newborn? Leptomeningeal angiomatosis

Front 261

polpoid capillary hemangioma that can ulcerate and bleed and associated with trauma and pregnacy?

Back 261

pyogenic granuloma (vascular tumor)-raised red bump

WIKI:

"Lobular capillary hemangioma,"[1] "Pregnancy tumor",[2] and "Tumor of pregnancy"[1]) is a primarily oral disease which appears as an overgrowth of tissue due to irritation, physical trauma or hormonal factors.[3][4] It is often found to involve the skin and nasal septum, and has also been found far from the head such as in the thigh.[5]

Front 262

Visual disturbances, cold upper extremeties with numb hands, HTN, retinal hemorrages and weakned upper ext pulses?

Back 262

Takayasu arteritis (granulomatous disease-just like temporal arteritis-USMLE!)
-large vessel vasculitis
-"Pulseless disease"
-Young asian female with visual and neurologic symptoms

S/S:
1. Claudication in extremities
2. Neurologic, cardiac, pulmonary, dermatologic findings
3. Changes in pulses (weak pulses)
4. Bruits
5. HTN
6. Retinal changes (retinal hemorrages)
7. Visual changes


VS

Temporal arteritis (giant cell arteritis)

-Focal granulomatous inflammation-Kaplan
-Affects elderly females
-S/S:
1. Unilateral or bilateral HA
2. jaw claudication
3. impaired vision (occulsion of opthalmic artery)-may lead to irreversible blindess

-Associated with polymyalgia rheumatica!! (pain and stifness in shoulders and hips, often with fever, malaise and weight loss)-Does NOT cause muscle weakness

Front 263

fever, bilateral conjunctivits, cervical lymphadenopathy and cutaneous involvment (edema of hands, rash with sloughing of fingertips)?

Back 263

Kawakaski disease (medium sized arteries vasculitis)
-Asian children < 4
-Die of coronary aneurysms (visualized with echo)
S/S: red/strawberry tongue
-Treat: ASA (exception to reyes disorder), IV iG

Front 264

Transmural infammation with fibrinoid necrosis of medium sized arteries with abdominal angina, renal involvement and testicular infarction?

Back 264

Polyarterititis nodosa (medium sized arteries vasculitis)
1. Vasculitis to SMA-->abdominal angina
2. Vasculitis to renal artery--> HTN

**Associated with Hep B

Front 265

intracranial HTN, skin changes and hepatosplenomegaly?

Back 265

Vitamin A overuse

Acute toxicity:
1. nausea
2. vomiting
3. vertigo
4. blurred vision

Chronic toxicity:
1. alopecia
2. dry skin
3. hyperlipidemia
4. hepatotoxicity
5. hepatosplenomegaly
6. visual diffiulties
7. intracranial HTN-->papilledema

Teratogenic effects:
1. microcephaly
2. cardiac anomalies
3. fetal death

Front 266

Diabetes, necrolytic erythema and anemia?

Back 266

Glucaonoma
-a hormone secreted by alpha cells of pancreas
-rare pancreatic tumor that characteristically presents with:

1. necrolytic migratory erythema
2. elevated erythematous rash typically affecting groin
3. hyperglycemia
4. stomatitis
5. cheiolosis
6. abd pain

Treatment: octreotide (somatostain analog)-inhibits release of glucaon
surgery

*If you see this in a pt, male sure you check the Ca2+ levels (parathyroid), gastrin level (gastrinoma of pancreas) and glucose level (insulinoma of pancreas) b/c of association with MEN 1: defective MEN 1 gene called meninin on chromosome 11

Front 267

diarrhea, asthmatic wheezing, cutaneous flushing, right sided valvular disease?

Back 267

Carcinoid syndrome (most common tumor of appendix)
-Increased 5-HIAA in urine-USMLE!
-Dervived from neuroendocrine cells of GI tract
-Can lead to pellagra (need more tyrphophan to make serotonin=less tryptophan to make nicacin)=dirrhea, demenita, dermatitis
-Treatment: Octreotide (inhibits sertonin and many other hormone secretion)-USMLE!

USMLE: Can cause predominantly right sided endocardial fibrosis which may progress to pulmonic stenosis and/or restrictive cardiomyopathy. The severity of carcinoid heart disease correlates with plasma levels of serotonin and urinary exrection of serotonin metabolite, 5-hydroxyindoleacetic acid.............................USMLE: Autopsy of a 35 yr old caucasian male shows significant endocardial thickening due to dense fibrous deposits around the tricuspid and pulmonary valves as well as pulmonary valve stenosis. The left cardiac chambers and valves are normal. Measure what substance will be useful in the dx? urinary 5-hydroyindoleacetic acid

Front 268

myxedema (facial/periorbital), bradycardia, dyspnea on exertion with lymphocytic infiltration and germinal centers on histo?

Back 268

Hashimoto (most common cause of hypothyroidism)
-Hurthle cells (lymphocytic infiltration and germinal centers)
-Type IV hypersensitivity
-Increase risk of B cell lymphoma
- Antiperioxidase antibodies (normally catalzes oxidation of iodide in blood to iodine and also couples the iodine to form T3 and T4)-USMLE
-Associated with HLA-DR5
S/S: moderalty enlarged, NONTENDER thyroid

Front 269

hypogonadism, small firm testes, elongated limbs and gynecomastia?

Back 269

Klinefelter:

destruction and hyalinization of seminiferous tubules-->small and firm testes

Findings:
1. Damage to seminferious tubules=decreased inhibin b=no feedback inhibiton of FSH=increased FSH
2. Damage to leydig cells=decreased testosterone=erectile dysfunction and increased LH
3. Hypogonadism= delay in closure of ephiphyseal plates=long limbs
4. 47 XXY (presence of inactivated x chromosome-barr body)-from meiotic non disjunction

Labs:
1. Elevated LH, FSH
2. Decreased testosterone, sperm count

Front 270

Failure to thrive, steathorrhea, acanthocytosis, ataxia, night blindess?

Back 270

Abeta lipoproteinemia-USMLE!
-Hereditary inabilitu to synthesize lipoproteins due to defiencies in apoB-100 and apo B-48.
-Autosomal recessive
-Symptoms appear in first few months of life with failure to thrive and malabsorption (abd distention and foul smelling stool), progressive ataxia, retinitis pigmentosa
-Intestinal biopsy shows accumulation within enterocytes due to inability to export absorbed lipid as chylomicrons (foamy/clear appearance in cytoplasm).
-apo B-48 required for release of chylomicrons from epithelial cells into lymphatics
-Steathorrhea (cant absorb fat)=abdominal distention, foul smelling stool, night blindess (cant absorb vitamin A), serum levels of all lipids are decreased. Acanthocytes (lipids are essential components of cell membranes and their deficiency causes RBCs with abnormal mebranes and thorny projections, called acanthocytes), Lack of lipids in neuron membranes leads to mulitple neurologic abnormalities.

NBME: Child with mild MR presents with 3 day history of inability to see, chronic diarrhea, lack of muscle control in legs and arms, bilateral retinitis pigmentosa, ataxia, delayed deep tendon reflexes,cholesterol 40 and rbcs with spiny projections (acanthocytes)

Front 271

Pt with broken leg given opoid for pain and now complains of severe abd pain with tenderness of right upper quadrant?

Back 271

Opoids cause constriction of smooth muscle cells in spincter of oddi causing increase in pressure in common bile duct=biliary colic=abd pain

Front 272

vomiting, cerebral edema, labs showing increased ALT, AST, ammonia, bilirubin, pT/PTT and liver biopsy showing microvesicular steatosis?

Back 272

Reyes syndrome:
-hepatic failure and acute encephalopathy (from increased ammonia)
-From ASA use in pts 5-14
-Febrile illness that proceeds Reyes is usually URI, influenza, measles, varicella
-Liver biopsy will show: fatty liver (microvesicular fatty change)-USMLE!
-MOA: ASA metabolies decrease beta oxidation by reversible inhibiton of mitochondrial enzyme

Front 273

parkinsonian symptoms, impaired balance, difficulty speaking/slurred speach, chorea and elevated liver enzymes?

Back 273

Wilsons disease (copper accumulation)-Most undergoes hepatic excretion into bile for elimination-USMLE
-Deposits in liver, brain, cornea, kidneys, joints causing:
- Asterexis
-Basal ganglia degneration (parkinsonian symptoms-TRAP)
-Decreased ceruloplasmin
-Liver involvement--->Cirrhois, portal HTN, chronic hepatitis, hepatocellular carcinoma
-Kayer-Fleisher rings (diagnose with slit lamp-USMLE)
-Dementia
-Hemoyltic anemia
DX: Liver biopsy
Treat: Penicillamine-USMLE!

Front 274

Micronodular cirrhosis, diabetes and skin pigmentation?

Back 274

Hemochromatosis ("Brown diabetes")-results in congestive heart failure and hepatoceullar carcinoma. Affected gene is on chromosome 6 and encodes for a molecule that appears to affect iron absorption from GI tract-USMLE. Treat: repeated phlebotomy and DEFEROXAMINE

Front 275

Eggs in dog or sheep feces when injested caused cysts in liver. Aspiration of these hydtid cysts is not recommended due to spilling of the cyst contents within peritoneum and anaphylaxisis shock?

Back 275

Echinococcus granulosous-Cestodes (tapeworm)-Surgeon must inject ethanol before removal to kill the daughter cysts. Micro: encapsulated and calcified cyst ("eggshell calcification")

Front 276

Hemolytic anemia, pancytopenia and thrombosis?

Back 276

PNH (def of CD 55, 59)

Front 277

Blistering cutaneous photosensitity?

Back 277

Porphyria cutanea tarda-Most common porphria!!

Def enzyme: Uroporphyrinogen decarboxylase

Accumulated substrate: Uroporphyrin (tea colored urine)

S/S:
1. Photosensitivity
2. Inflammation, blistering, shearing of skin in areas exposed to sunlight
3. Hyperpigmentation
4. Exacerabated by alcohol
5. Red brown to deep red urine

USMLE!: Pt presented with recurrent skin blistering and labs show elevated total plasma porphyins.

Front 278

Painful abdomen, red-wine colored urine, polyneuropathy, psychological disturbances?

Back 278

Acute intermittent porphyria (Autosomal dominant-NMBE!)

Defienct enzyme: Pophobilinogen deaminase AKA uroporhyrinogen-I-synthase

Accumulated substrate: Porphobilinogen (PBG) and delta ALA-which are toxic to human tissues and uroporphyrin (urine)

Symptoms:
1. Painful abdomen/constipation
2. Red wine colored urine
3. Polyneuropathy
4. Psychological disturbances

Precipated by drugs that decrease heme synthesis by inducing CYP 450: (NEVER give barbiturates)

1. Sulfonomadies (TMP-SMX)
2. Phenobaribtal
3. Pentobarbital
4. Alcohol
5. Griseofulvin


Treatment:
Glucose (USMLE) and heme, which will inhibit the RLS step (ALA synthase) in heme synthesis to decrease heme synthesis

Kaplan:

pt presented with sudden onset restlessness,visual hallucinations and emotional lability. Was given TMP/SMX 2 weeks ago for UTI. Now presented with abd pain and symetrical weakness of lower ext-KAPLAN!

USMLE:
Pt presented with abd pain after drinking alcohol, nausea, confusion, urine turned black upon standing (red wine colored urine), given dextrose which improved her symptoms

Kaplan:

37 yr old man with history of AIP comes to physician b/c of acute gastroenteritis. He has severe abd pain, tachycardia, HTN and proximal muscle weakness. Which of the following lab findings is most likely to be seen during this illness?
Increased urinary delta-aminolevulinic acid (ALA) and porphobilinogen

-AIP
-most common of the porphyrias
-Autosomal dominant that results from partial def of enzyme porphobilinogen deaminase. (PBGD)-present in all tissues and RBCs
-More common in women
-Most people are clinically normal except when affected by certain environmental factors, drugs (barbituates, alcohol) that induce CYP450 or changes in nutritional or hormonal state
-When symptoms do occur, the urine in rare patients may turn a port wine color due to porphobilin, an oxidation product of PBG
-Affected pts excrete delta-ALA and PBG (porphobilinogen) and there is an increase in serum ALA and PBG


Heme synthesis:
1. 85% is produced by bone marrow for hemoglobin
2. 15% is made in liver for CYP 450 detoxification system (induce CYP 450=decrease heme synthesis)

Induces ALA synthase:
1. Alcohol
2. Barbiturates
3. Hypoxia

Inhibits ALA synthase
1. Glucose

Front 279

bone replaced by fibroblasts, collagen, irregular bony trabeculae, cafe au lait spots and increaed estradiol?

Back 279

McCune Albright syndrome
1. Polyostotic fibrous dysplasia-bone replaced by fibroblasts, collagen and irregular bony trabeculae
2. Precious puberty-increased estrogen, decreased LH/FSH
3. Cafe-au-lait signs/"Coast of Maine" spots-unilateral

Front 280

Rheumatoid arthritis, splenomegaly and neutropenia?

Back 280

Feltys syndrome (increased risk of infection, seen in people with long term RA)

Front 281

Synovitis, tenosynovitis, dermatitis?

Back 281

Infectious arthritis from Gonorrhea (Synovitis of knee, Tenosynovitis of hand and dermatitis-pustules)

Front 282

irregular area of complete depigmentation caused by decreased number of melanocytes?

Back 282

Vitiligo-autoimmune attack on melanocytes

vs

Albinism (another pigmentation disorder) which you have NORMAL melanocyte number with decreased melanin production due to decrease activity of tyrosinase

SN:

Ephelis=freckle
-Normal number of melanocytes with increase melanin pigment

Front 283

flat, greasy, pigmented squamous epithelial proliferation with keratin filled cysts on head, trunk, upper extremity that "looks pasted on"?

Back 283

Seborrheic kearatosis
-Common beign neoplasm of older persons

A seborrheic keratosis (also known as "Seborrheic verruca," and "Senile wart"[1]:767[2]:637) is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age.[3] In fact they are sometimes humorously referred to as the "barnacles of old age". [1]

Sign of leser-trelat:
- Sudden appearance of multiple seborrheic keratoses indicating an underlying malignancy (GI, lymphoid)

PIC ON WIKI-Many seborrheic keratosis on the back of a person with Leser–Trélat sign due to colon cancer.

USMLE: 65 yr old man presents to your office with several warty brown plaques on his back. The lesions give the impression that they could be easily peeled off. Dx? Seborrheic keratosis

Front 284

White, painless plaques on the lateral tongue that cant be scraped off in a HIV pt?

Back 284

Hairy leukoplakia (EBV mediated)

Front 285

Lesion with rolled edges with central ulceration and pearly papules/palisading nuclei on gross path?

Back 285

Basal cell carcinoma
-Usually on upper face/lip
-Most commonly in sun exposed areas
-Locally invasive but almost never mets

Kaplan:
25 yr old woman comes to dr b/c of a nonhealing "sores" on her face. Exam shows waxy papules with a depressed center. Biopsy of one of the papules shows a malignant tumor. Which of the following is a finding likely on microscopic exam? Palisading nuclei

Kaplan:
A 50 yr old man comes to dr b/c of a lesion on the nose that does not heal. PE shows a 1cm waxy, fleshy colored lesion with rolled edge, telangiectasia and central ulceration. What will be seen on micro? malignant basal cells

-BCC: forms "pearly papules" on sun exposed skin commonly with telangiectasias
-Almost never mets but can be very locally destructive


VS
Squamous cell carcinoma
-Usually on lower face/lip
-Associated with excessive exposure to sunlight and arsenic expsoure
-Commonly appear on hands and face
-Locally invasive but rarely mets
-Ulcerative red lesion and associated with chronic draining sinuses-GOLJAN!!
-Histo: keratin pearls

Risk factors:
1. Immunosuppresion
2. Aresenic poisoning
3. Chronic inflammation
4. Tobacco, cigars, pipes

KAPLAN:
A 35 yr old man comes to dr b/c of a non healing sore on the vermillion of the middle of his lower lip. He has no history of medical illness and goes bicycling quite frequenlty. PE shows a 1.5cm raised lesion with an ulcerated surface and pale edge. What is the most likely precursor? Actinic cheilitis (actinic lesion of lip mucosa) vs actinic keratosis which would be correct name for same lesion on skin of face or scalp.


Actinic kearatois
-premalignant condition caused by sun exposure
-Go away and return
-Small, rough, erythematous or browinsh papules
-Risk of carcinoma is portional to epithelial dysplasia

Keratoacanthoma
-Variant that grows rapidly (4-6 weeks) and regresses spontaneously (4-8 weeks)
-cup shaped tumor with keratin debris

Front 286

Pt with double vision, trouble swallowing, difficulty speaking, N/V and abd pain?

Back 286

Food poisoning with Clostridium botulism (gram positive, spore forming, obligate anaerboic rod), PREFORMED neurotoxin vs infant botulism acquired via ingestion of spores

S/S:
1. Diplopia (double vision, ptosis)
2. Dysphagia (trouble swallowing)
3. Dsyphonia (difficulty speaking
4. N/V/Abd pain-from the food poisoning

*Injestion of food from damaged cans with incubation period of 18-36 hours

MOA: blocks cholinergic nerves at pre-terminal which inhibits the release of Ach in the synapse=muscle paralysis (Not seen in anticholinergic agents like atropine b/c working at nicotinic receptors and anticholinergics working at muscarinic)
Skeletal muscle weakness is the differentiating feature between anticholinergics (atropine) and botulism toxin.
*Can be prevented by heating food b/c the toxin is heat labile


*A person or family member who ate same thing may have similar symptoms-USMLE!


SN: C. Tetani-blocks inhibitory NTs from pre synaptic terminal which leads to spastic paralysis, lock jaw

KAPLAN: 45 yr old man is brought to ER b/c of muscle weakness and palpitations. His temp is 98.7 and pulse 82, RR 12, BP 137/62. PE shows mydriasis. Which of following agent is responsible? botulinum toxin

Front 287

Sweating, pupil dilation, rhinorrhea, sneezing, N/V, diarrhea, fever and flu like symptoms?

Back 287

Opiod withdrawl
-Can have chills, tremors, jittery movements and can lead to seizures
-Symptoms usually being 24-48 hours after birth in neonates
-Treatment for neonates: opium solution (tincture of opium-USMLE!)-given orally and titrated to pts symptoms and eventually tapered off
-Treatment for adults: symptomatic

-DO NOT give nalaxone to pt in withdrawls b/c will lead to increase withdrawl symptoms and seizures!!!

Front 288

Hyperthermia, extreme generalized rigidity, autonomic instability, altered mental status?

Back 288

Neuroleptic malignant syndrome-no clonus/seizures (treat: dantrolene)-USMLE vs Serotonin syndrome (hyperthermia, extreme generalized rigidity, autonomic instability/cardiovascular collapse, flushing, diarrhea, seizures/clonus) Get from combining MAO-I and SSRIs-USMLE- and MAO-Is and tyramine containing foods (cheese, wine)-USMLE Treat: Cyrproheptadine

Front 289

Cavities in deep structures of brain filled with clear fluid?

Back 289

Lacunar infarcts
-Usually located within basal ganglia, posterior limb of internal capsule, pons and cerebellum
-Result from occlusion of small penetrating arteries that supply these structures, most commonly in setting of chronic uncontrolled HTN or DM

Causes:
1. Lipohyalinosis: destructive vessel lesion characterized by loss of normal arterial architecture, mural foam cells and in acute cases, evidence of fibrinoid vessel wall necrosis

2. Microatheromas: result from accumulation of lipid-laden macrophages within the intima layer of a vessel

Front 290

Pt cutting trees in his garden and then presents with blurry vision, increased temp, bp 100/70, hr 120, rr 22, flushed skin, dry oral mucosa and dilated, non reactive to light pupils?

Back 290

Atropine poisoning
-"Gardeners mydriasis"
-Pt has Jimson weed poisoning which has strong anticholinergic properies
-Blockage of muscarinic receptors leads to: (all SNS)
1. increase HR
2. bronchodilation
3. GU: urinary retention via detrusor relaxation
4. Secretions: decreased lacrimation (dry eyes), salivation (dry mouth) sweating
5. Mydriasis (dilated pupils)
6. CNS: hallucinations, agitation, delirium

Treatment: increase Ach in synapse-Physostigmine (cholinesterase inhibitor)

Atropine poisoning:
Blind as bat, mad as a hatter, red as a beet, hot as a hare, dry as a bone, bowel and bladder loose their tone and heart runs alone.

Front 291

dementia, ataxia, urinary incontinence?

Back 291

Normal pressure hydrocephalus
-Wet, wobbly, wacky
-Does NOT result in increase subarachnoid space volume
-Expansion of ventricles distorts fibers of corona radiata and leads to the triad
-A reversible cause of dementia in elderly

Front 292

Malaise, HA, fever, nausea, abd pain, sore throat and signs of LMN lesions-muscle weakness, atrophy, fasciculations, hyporeflexia?

Back 292

Poliomyelitis (SS RNA virus)
-Caused by poliovirus (a enterovirus: most common cause of aseptic meningitis)
-Transmitted: fecal-oral
-Replicates in oropharynx and small intestine before spreading through bloodstream to the CNS, where it leads to destruction of cells in anterior horn of spinal cord, leading to LMN destruction
Findings: CSF with lymphocytic pleocytosis, slight elevation of protein (normal glucose)
Virus recovered from: stool or throat

Enteroviruses
1. Poliovirus
2. Coxsackie
3. Echovirus

*Pt may present with fever, HA, stiffneck (viral meningitis) with paralysis of lower extremties

Front 293

floppy newborn baby at birth with tongue fasciculations?

Back 293

Werdnig-Hoffman disease
-AKA infantile spinal muscular atrophy
-Autosomal recessive
-Median age of death: 7
-Associated with degeneration of anterior horns
-LMN involvment only (weakness, atrophy, fasiculation, hyporelexia). Corticobulbar involvement can cause poor feeding and resp failure in infants

KAPLAN: Newborn born at 38 weeks gestation with no problems. 2 months later, he is brought to dr and mom says he no longer feeds well and that he slows down through feeding and halfway cannot finish. PE shows weak sucking response and generalized hypotonia and areflexia. EMG is performed on the limbs and shows fibrillation potentials. Defect where? ventral horns

Front 294

Imparied propioception, shooting pain in arms and legs and absence of deep tendon reflexes?

Back 294

Tabes dorsalis
-Degeneration of dorsal columns and dorsal roots due to teritary syphillis
-S/S:
1. Charcots joints
2. Shooting (lightning) pain
3. Argyll Roberston pupils (reactive to accomodation but not to light)
4. absence of DTRs
5. Positive romberg
6. Sensory ataxia at night
7. Stroke without HTN
8. Gummas (chronic granulomas full of spirochetes and made by macrophages-KAPLAN, USMLE!)

Front 295

Ipsilateral UMN signs, ipsilateral loss of tactile, vibration, proprioception, contralateral pain and temp loss, ipsilateral loss of all sensation at level of lesion, LMN signs at level of lesion?

Back 295

Brown Sequard syndrome
-Causes: tumor, trauma-GSW
-Hemisection of spinal cord findings:

1. Ipsilateral UMN signs (corticospinal tract) below lesion

2. Ipsilateral loss of tactile, vibration, proprioception (DCML) below lesion

3. Contralateral pain and temp loss (spinothalamic) below lesion

4. Ipsilateral loss of all sensation at level of lesion

5. LMN signs at level of lesion (flacid paralysis)

*If lesion occurs above TI, pt may present with Horners syndrome (ptosis, anhidrosis, miosis)

USMLE!
-pt presented with drooping right eyelid (ptosis), right pupil smaller than left (miosis) and hoarse voice (from recurrent laryngeal nerve being compressed) from a bronchogenic carcinoma

Front 296

Rapidly progressive dementia with myoclonus?

Back 296

Creutzfeldt-Jakob disease (CJD)

-Spongiform cortex of gray matter-USMLE!
-Prions (alpha helix-->beta helix that are resistant to proteases that build up
-No treatment

Front 297

confusion, opthalmoplegia, ataxia?

Back 297

Wernicke Encephalopathy-Thiamine def
-May progress to Korsakoff

Korsakoff psychosis: (damage to medial dorsal nucleus of thalamus)
1. IRREVERSIBLE memory loss-USMLE!
2. Confabulation
3. Personality changes

*Associated with periventricular hemorrhage/necrosis of mamillary bodies-USMLE!

Front 298

Low back pain radiating to one or both legs, loss of anocutaneous reflex, bowel and bladder dysfunction and loss of anke-jerk reflex?

Back 298

Cauda equina syndrome
-results from massive rupture of intervertebral disk that is capable of causing compression of 2 or more 18 spinal nerve roots of cauda equina
-Can also be due to any trauam or space occupying lesion of lower vertebral column
-The cauda equina nerve roots provide the sensory and motor innervation to most of lower extremeties, the pelvic floor and spincheters

-S/S:
1. low back pain radiating to one or both legs
2. Saddle anesthesia
3. Loss of anocutaneous reflex
4. Bowel and bladder dysfunction (S3-S5 root)
5. Loss of ankle jerk relex (S1-S2)
6. Planatar flexion weakness

Pt presented with severe low back pain that started 2 weeks ago with no trauma history. Exam showed pain in low back region with flexing of the back and raising of legs (Sciatica). Pinprink in perianal area does not cause rapid contraction of anal spincter.
Nerve root compression: S4 (the anus)

Front 299

Tinnitus, vertigo, sensorineural hearing loss?

Back 299

Menieres disease
-Increased volume and pressure of endolymph in vestibular apparatus (defective resorption)
-The resultant disention of the endolymphatic system causes damage to both the vestibular and cochlear componets of inner ear
-Hearing loss:
A. rinne test will show AC>BC in affected ear (normal pattern)
B. Weber: lateralization to healthy side

1. Peripheral vertigo
-More common
-Inner ear etiology
-Causes: Semicircular canal debris, vestibular nerve infection, Meniere disease
-Positional testing will show DELAYED hortizontal nystagmus

2. Central vertigo
-Causes: Brainstem or cerebellar lesion (vestibular nuclei, posterior fossa tumor)
-Positional testing will show IMMEDIATE nystagmus in any direction and may change directions


USMLE:
Pt presented with bouts of "spinning sensation" associated with nausea and ringing in left ear. She also has to use her right ear when talking on phone. She feels fine between episodes.

Front 300

Exteronal dysnea, easy fatigability, unstable gait when eyes closed, decreased vibration sense?

Back 300

Vitamin b12 defiency
- megaloblastic anemia (fatigue, pallor, extertional dyspnea)
-Elevated homocytsteine levels (thrombosis)
-Elevated methylmalonic acid levels-USMLE!-normally converts methymalonic acid to succinyl coa
-Elevated methylmalonic acid results in myelin synthesis abnormalties.
- Subacute, combined degeneration of the posterior (decreased position sense and vibration sensation) and lateral corticalspinal tracts (upper motor neuron signs: spastic paresis, babinksi, hyperreflexia)
-Axonal degeneration of peripheral nerves


USMLE:

45 yr old caucasian woman suffers from an inability to walk. Her spinal cord shows symmetric myelin layer vacuolization and axonal degeneraton involving the posterior columns and lateral corticospinal tracts. Which of the following is the most likley cause of her condition? Vitamin b12 def

Damage due to abnormal myelin synthesis and leads to:

1. Dorsal columns: bilateral loss of position and vibration sense and sensory ataxia (loss of balance when eyes closed)

2. Lateral corticospinal tract: upper motor neuron signs: spastic paresis, hyperreflexia, and pathologic reflexes (babinski sign)

3. Axonal degeneration of peripheral nerves: numbness or paresthesias

The myelopathy associated with vitamin b12 def is called subacute combined (dorsal columns and corticospinal tracts) degeneration!

vs tabes dorsalis (the cortical spinal tract not involved, ONLY the dorsal columns)

USMLE:
70 yr old pt presents with easily fatigability, exertional dyspnea and weight loss. She also complains of frequent falls. PE shows symmetrically decreased vibratory sensation to lower ext's. Hgb is 7.8 and peripheral blood smear shows hypersegmented neutrophils. Treatment? B12

Early signs: decreased vibratory and positon sense
Late signs: neurological dysfunction may be irreversible

USMLEsim: A 67 yr old male is brought to ER b/c of confusion, irritability and shock like sensation that radiates to his feet on neck flexion. He has a long history of alcohol abuse and has been hospitalized for alcohol intoxication and acute pancreatitis. At presentation, his blood glucose level is 52. 2 days later, he feels batter. His only complaint is some numbness of his feet. PE shows decreased bilateral vibratory sensation over feet and ankles. DX? B12 def

Front 301

Brassy/barking cough, stridor, dyspnea in a child with a recent URI?

Back 301

Viral laryngotracheobronchitis (croup): most commonly caused by parainfluenza virus, a paramyxovirus. USMLE: pt presented with fever,runny nose and sore throat and then 2 days later he is brought to the ER with persistent fever, brassy cough, difficulty breathing. Exam reveals stridor. FACT: may see steeple sign on xray (narrowing of trachea due to the inflammation,swelling.)

Front 302

Hemolytic anemia, elevated liver enzymes and thrombocytopenia?

Back 302

HELLP syndrome (Hemolytic anemia-schisocytes, Elevated Liver enzymes, Low platelets)-a potential complication of pre-eclampsia: HTN, proteinuria, edema

Front 303

Generalized lympadenopathy, rash and arthritis?

Back 303

Mother with rubella-can spread to infant causing triad of

1. PDA (or pulmonary artery hypoplasia)
2. Cataracts
3. Deafness
4. +- blueberry muffin rash

(FA 2011 pg 179)

USMLE:
8 yr old middle eastern immigrant is brought to the clinic with low grade fever and skin rash that started on his face and spread to his body. PE shows postauricular tenderness. Whic of the following is the most likely cause of this pts disease? Togavirus (he prob wasnt vaccinated with MMR)

Front 304

Phenotypically normal, very tall, severe acne, antisocial behavior male with normal fertility?

Back 304

Double Y males (XYY)
-FA 2011 pg 485

Front 305

Headache, blurred vision, abdominal pain, edema of face and extremities, altered mentation, hyperreflexia and labs show thrombocytopenia and hyperuricemia in a 25 weeks pregnant pt?

Back 305

Pre-eclampsia
-These s/s before 20 weeks gestation suggests molar pregnancy-KAPLAN!

Front 306

Pt with edema, HTN, >3.5grams proteinuria, hyperlipidemia who presents with a testicular mass?

Back 306

Nephrotic syndrome (loose proteins including AT III--->hypercoagulable state-->left renal vein thrombosis-->variocele on left (will transilluminate)-dilated vein in pampiniform plexus and can lead to infertility