Bbc - First Aid High Yield

Front 1

A pt presents with:
abdominal pain
ascites
hepatomegaly
What disease do they most likely have?

Back 1

Budd-Chiari syndrome***
Posthepatic venous thrombosis

Budd–Chiari syndrome is the clinical picture caused by occlusion of the hepatic veins. It presents with the classical triad of abdominal pain, ascites and hepatomegaly. Examples of occlusion include thrombosis of hepatic veins.

Front 2

A pt presents with an achilles tendon xanthoma. What is your diagnosis?

Back 2

Familial hypercholesterolemia (decreased LDL receptor signaling)

Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease. Many patients have mutations in the LDLR gene that encodes the LDL receptor protein, which normally removes LDL from the circulation, or apolipoprotein B (ApoB), which is the part of LDL that binds with the receptor; mutations in other genes are rare. Patients who have one abnormal copy (are heterozygous) of the LDLR gene may have premature cardiovascular disease at the age of 30 to 40. Having two abnormal copies (being homozygous) may cause severe cardiovascular disease in childhood. Heterozygous FH is a common genetic disorder, occurring in 1:500 people in most countries; homozygous FH is much rarer, occurring in 1 in a million births.

Front 3

More on FH

Back 3

Cholesterol may be deposited in various places in the body that are visible from the outside, such as in yellowish patches around the eyelids (xanthelasma palpebrarum), the outer margin of the iris (arcus senilis corneae) and in the form of lumps in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (tendon xanthoma).

Front 4

A pt presents with Adrenal Hemorrhage, they are hypotensive, and have DIC. What is this?

Back 4

Waterhouse-Friderichesen Syndrome (meningococcemia)

defined as adrenal gland failure due to hemorrhage into the adrenal glands, secondary to severe bacterial infection (most commonly the meningococcus Neisseria meningitidis. The bacterial infection leads to massive hemorrhage into one or (usually) both adrenal glands.[2] It is characterized by overwhelming bacterial infection meningococcemia leading to massive blood invasion, organ failure, coma, death, low blood pressure and shock, disseminated intravascular coagulation (DIC) with widespread purpura, and rapidly developing adrenocortical insufficiency.

Front 5

A pt presents with Archnodatylyl, lens disloaction, aortic dissection, and hyperflexible joints. What is this?

Back 5

Marfan's syndrome (fibrillin defect)***

The syndrome is inherited as a dominant trait, carried by the gene FBN1, which encodes the connective protein fibrillin-1.[1][2] People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan syndrome.

Front 6

An ATHLETE presents with polycythemia. What is this?

(Polycythemia - is a disease state in which the proportion of blood volume that is occupied by red blood cells increases.) Blood volume proportions can be measured as hematocrit level. It can be due to an increase in the mass of red blood cells ("absolute polycythemia") or to a decrease in the volume of plasma ("relative polycythemia").

Back 6

Erythropoeitin injections

Erythropoetin is a glycoprotein hormone that controls erythropoiesis, or red blood cell production. It is a cytokine (protein signaling molecule) for erythrocyte (red blood cell) precursors in the bone marrow.

Front 7

A pt presents with:
1. back pain
2. fever
3. complains of night sweats
4. wt loss
What is this?

Back 7

Pott's disease (vertebral tuberculosis)

Pott's disease is a presentation of extrapulmonary tuberculosis that affects the spine, a kind of tuberculous arthritis of the intervertebral joints. Pott’s disease results from haematogenous spread of tuberculosis from other sites, often pulmonary. The infection then spreads from two adjacent vertebrae into the adjoining intervertebral disc space. If only one vertebra is affected, the disc is normal, but if two are involved, the disc, which is avascular, cannot receive nutrients and collapses. The disc tissue dies and is broken down by caseation, leading to vertebral narrowing and eventually to vertebral collapse and spinal damage. A dry soft tissue mass often forms and superinfection is rare.

Front 8

A pt presents with Bilateral Hilar Adenopathy and uveitis. What is this?

Back 8

Sarcoidosis (noncaseating granulomas)

disease in which abnormal collections of chronic inflammatory cells (granulomas) form as nodules in multiple organs. The cause of sarcoidosis is unknown. Granulomas (of the non-caseating type) most often appear in the lungs or the lymph nodes, but virtually any organ can be affected. Normally the onset is gradual. Sarcoidosis may be asymptomatic or chronic. It commonly improves or clears up spontaneously.

Front 9

If a person is seen with a bluish line on the gingiva what do they have?

Back 9

Burton's line (lead poisoning)

Front 10

A pt presents with bone pain, bone enlargement, and arthritis. What is this disease?

Back 10

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

Although there is no cure for Paget's disease, medications (bisphosphonates and calcitonin) can help control the disorder and lessen pain and other symptoms

Front 11

pt presents with bounding pulses a diastolic heart murmur, and head bobbing. what do they most likely have?

Back 11

Aortic regurgitation

Front 12

A pt presents with "Cafe-au-lait spots and Lisch nodules. What could this be?

Back 12

Neurofibromatosis type I
(pheochromocytoma and optic gliomas)

Neurofibromatosis type II (bilateral acuoustic neuromas)

Front 13

What is Neurofinromatosis?

Back 13

genetically-inherited disorder in which the nerve tissue grows tumors (neurofibromas) that may be benign or may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells (Schwann cells, melanocytes and endoneurial fibroblasts). Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and café au lait spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems.
Neurofibromatosis is an autosomal dominant disorder but Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally.

Front 14

What is a Pheochromocytoma

Back 14

(neuroendocrine tumor of the medulla of the adrenal glands (originating in the chromaffin cells), or extra-adrenal chromaffin tissue that failed to involute after birth and secretes excessive amounts of catecholamines, usually noradrenaline (norepinephrine), and adrenaline (epinephrine) to a lesser extent)

Front 15

Another pt presents with Cafe-au-lait spots, but has polyostotic fibrosis dysplasia, and precocious puberty. What is this?

Back 15

McCune Albright Syndrome (moasic G-protein signaling mutation)

polyostotic fibrosis dysplasia is a form of firbous dysplasia. Fibrous dysplasia is a disease that causes bone thinning, and growths or lesions in one or more bones, and leads to bone weakness and scar formation within the bones.)

Front 16

A pt presents with unexplained calf pseudoatrophy. What is this?

Back 16

Muscular dystrophy (most common is duchenne's): X-linked recessive deletion of dystropin gene

Front 17

A pt presents and has a Cherry Red spot on his macula. What is this?

Back 17

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

Front 18

A pt presents with chest pain, pericardial effusion with friction rub, and presisten fever. This all following an MI. What is this?

Back 18

Dressler's syndrome***
Autoimmune mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode

Front 19

What is Gower's sign and what is it a sign of?

Back 19

Gower's - Child uses his arms to to stand up from a squat.

Sign of Duchenne Muscular Dystrophy

Front 20

A child presents with fever and develops a red rash on her face that spreads to the body. What is this?

Back 20

"Slapped Cheek sign"
erythema infectiosum --> 5th disease: caused by Parvovirus B19

Front 21

A pt presents with Chorea, dementia, and caudate degeneration. What is this?

Back 21

Huntington's disease
auto dom - CAG repeat expansion

Front 22

A pt presents with chronic exercise intolerance with mylagia, fatigue, painful cramps, and myoglobinuria. What do they have?

Back 22

McArdle's disease (muscle glycogen phosphorylase deficiency)

Glycogen storage disease type V (GSD-V) is a metabolic disorder, more specifically a glycogen storage disease, caused by a deficiency of myophosphorylase. Myoglobinuria, the condition where myoglobin is present in urine, may result from serious damage to the muscles, or rhabdomyolysis, where muscle cells breakdown, sending their contents into the bloodstream.

Front 23

If a pt has (ON EXAM FOR SURE!!) a machine like murmur what is it?

Back 23

PDA
close with indomethacin
open with misoprostol

Front 24

A pt presents with a cutaneous dermal edema due to connective tissue deposition. What is this?

Back 24

Myxedema (caused by hypothyroidism, Grave's disease (periorbital))

Front 25

A pt presents with what looks like DARK PURPLE skin and mouth nodules. What is this?

Back 25

Kaposi's sarcome
Ass with AIDS and gay men
Also ass with HHV-8

Front 26

A pt presents with deep labored breathing and hyperventilation. What kind of breathing is this?

Back 26

Kussmaul breathing from diabetic ketoacidosis

Front 27

A pt presents with dermatitis, dementia, and has diarrhea. What is this?

Back 27

Pellagra (niacin Vit B3) def

Front 28

A pt presents with dilated cardiomyopathy, edema, and polyneuropathy. What is this?

Back 28

Wet beriberi
Vit B1 def

Front 29

What bacteria do you need to be beware of if you bitten by a dog or cat?

Back 29

Pasteurella multocida
(cellulitis at inoculation site)

Front 30

A pt presents with dry eyes, dry mouth, and arthritis. What do they have?

Back 30

Sjogenen's Syndrome (autoimmune destruction of exocrine glands that produce tears and saliva)

second most common autoimmune rheumatic disease. Sjögren's syndrome can exist as a disorder in its own right (primary Sjögren's syndrome) or may develop years after the onset of an associated rheumatic disorder, such as rheumatoid arthritis, systemic lupus erythematosus, scleroderma, primary biliary cirrhosis etc. The hallmark symptom of Sjögren's syndrome is a generalized dryness, typically including xerostomia (dry mouth) and keratoconjunctivitis sicca (dry eyes), part of what are known as sicca symptoms. In addition, Sjögren's syndrome may cause skin, nose, and vaginal dryness, and may affect other organs of the body, including the kidneys, blood vessels, lungs, liver, pancreas, peripheral nervous system (distal axonal sensorimotor neuropathy) and brain.

Front 31

A pt presents with Dysphagia (esophageal webs), glottitis, and iron deficeincy anemia. What do they have?

Back 31

Plummer-Vinson Syndrome (may progress to esophageal squamous cell carcinoma).

Most occurs in post-menopausal women. Treatment is primarily aimed at correcting the iron-deficiency anemia. Patients with PVS should receive iron supplementation in their diet. This may improve dysphagia and pain. There is risk of perforation of the esophagus with the use of dilators for treatment. Furthermore it is one of the risk factors for developing squamous cell carcinoma of the oral cavity, esophagus and hypopharynx

Front 32

A pt presents with elastic skin and hypermobile joints. What do they have?

Back 32

Ehlers-Danlos syndrome (type III collagen defect)

Front 33

What should you think if on physical exam you find a enlarged hard lymph node in the left supraclavicular area?

Back 33

Virchow's node (indicates abdominal metastasis)

Front 34

A pt presents with erythroderma, lymphadenopathy, hepatosplenomegaly, and atypical T cells. What is this?

Back 34

Sezary Syndrome (cutaneous T-cell lymphoma) pr mycosis fungoides

type of cutaneous lymphoma. The affected cells are T-cells that have pathological quantities of mucopolysaccharides. Sézary's disease is sometimes considered a late stage of mycosis fungoides with lymphadenopathy. often present with skin lesions that do not heal with normal medication. Dx: MicroSézary cells: pleomorphic abnormal T cells with convoluted nucleus

Front 35

If a pt has facial muscle spasms upon tapping, What is this sign and what does it indicate?

Back 35

Chovstek's sign
Hypocalcemia

Front 36

A pt presents with fever, chills, headache, myalgia following antibiotic treatment for syphilis. What is this?

Back 36

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

resembles bacterial sepsis and can occur after initiation of antibacterials such as penicillin or tetracycline, or treatment of tick-borne relapsing fever. An association has been found between the release of heat-stable proteins from spirochetes and the reaction. The Herxheimer reaction has shown an increase in inflammatory cytokines during the period of exacerbation, including tumor necrosis factor alpha, interleukin-6 and interleukin-8.

Front 37

What are spirochetes?

Back 37

phylum of distinctive Gram-negative bacteria, which have long, helically coiled (spiral-shaped) cells

Front 38

A pt presents with fever, cough, conjunctivitis, coryza, and a diffuse rash. What is this?

Back 38

Measles (Morbillivirus)

are enveloped, single-stranded, negative-sense RNA viruses. Symptoms include fever, cough, runny nose, red eyes and a generalized, maculopapular, erythematous rash. spread through respiration (contact with fluids from an infected person's nose and mouth, either directly or through aerosol transmission), and is highly contagious

Front 39

A pt presents with fibrous plaques in soft tissue of the penis

Back 39

Peyronie's disease
(connective tissue disorder)

Front 40

A pt presents with gout, mental retardation, and self-mutilation. The gender of the pt is male. What is this?

Back 40

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

Front 41

A pt presents with a green-yellow halo/ring around the peripheral cornea. What is this a sign for what disease?

Back 41

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

autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. condition is due to mutations in the Wilson disease protein (ATP7B) gene. Located on chromosome 13.

Front 42

A pt presents with hamartomatous GI polyps, hyperpigmentation of the mouth and feet / hands. What is this?

Back 42

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

autosomal dominant genetic disease characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa. Chrom 19, AD dz, BENIGN,

Front 43

A pt presents with hepatospelnomegaly, osteoporosis, and has neurological symptoms. What disease is this?

Back 43

Gaucher's disease
(glucocerebrosidase def)

genetic disease in which a fatty substance (lipid) accumulates in cells and certain organs. Gaucher's disease is the most common of the lysosomal storage diseases. The enzyme acts on the fatty acid glucosylceramide. When the enzyme is defective, glucosylceramide accumulates, particularly in white blood cells, most often macrophages (mononuclear leukocytes). Glucosylceramidase can collect in the spleen, liver, kidneys, lungs, brain and bone marrow.

Front 44

A pt presents with hereditary nephritis, sensorineural hearing loss, and cataracts. What disease is this?

Back 44

Alport's syndrome
(mutation in alpha chain of collagen IV)

Front 45

A pt has hypercoaguability, leading to migrating DVTs and vasculitis)? what sign is this and what does it indicate?

Back 45

Troussaue's sign
(adenocarcinoma of the lung or pancrease)

Front 46

A pt presents with hyperphagia, hypersexuality, hyperorality, and hyperdocility. What is this?

Back 46

Kluver Bucy syndrome
(bilateral amygdala lesion)

Front 47

A pt has hypertension, hypokalemia, and metabolic acidosis, What is this?

Back 47

Conn's syndrome
(too much aldosterone)

Front 48

Hypoxemia, polycythemia, and hypercapnia. Are all signs for what?

Back 48

"Blue Boater"

chronic bronchitis - hyperplasia of muscous cells.

Front 49

If on physical exam you find an indurated, ulcerated genital lesion what should you think?

Back 49

Non-pain chancre: syphilis Treponema pallidum

Painful: with exudate: chancroid haemphilus ducreyi

Front 50

An infant with failure to thrive, hepatoslenomegaly, and neurodegeneration presents. What is this?

Back 50

Niemann-Pick Disease
(genetic sphingomyelinase deficiency)

group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases (LSDs). Accumulate in the spleen, liver, lungs, bone marrow, and brain. In the classic infantile type A variant, a missense mutation causes complete deficiency of sphingomyelinase. Sphingomyelin is a component of cell membrane including the organellar membrane and so the enzyme deficiency blocks degradation of lipid, resulting in the accumulation of sphingomyelin within lysosomes in the macrophage-monocyte phagocyte lineage. Autosomal Recessive

Front 51

An INFANT with hypoglycemia, failure to thrive, and hepatomegaly presents?

Back 51

Cori's Disease
(debranching enzyme deficiency)

Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of metabolism characterized by a deficiency in glycogen debranching enzymes. GSD III is inherited in an autosomal recessive pattern

Front 52

An infant presents with microcephay, rocker bottom feet, clenched hands, and structural heart defects? What is this?

Back 52

Edward's Syndrome (trisomy 18)

Front 53

If you perform a skin biopsy and on the path report you see Keratin Pearls, what is this?

Back 53

Squamous Cell Carcinoma

Front 54

You have a camper with a Large rash with a Bull's Eye appearance. What is this?

Back 54

Erythema chronicum migrans
from Ixodes tick bites
Lyme Disease: Borrelia

Front 55

Pt presents with Lucid intervals of awaking and then passing out after traumatic brain injury. What does this person have?

Back 55

Epidural Hematoma
(middle meningeal artery rupture)

Front 56

A MALE child with recurrent infections and has NO mature B cells.

Back 56

Bruton's disease
(X-linked agammaglobulinema)

rare X-linked genetic disorder - XLA patients do not generate mature B cells,[2] which manifests as a complete lack of antibodies in their bloodstream. B cells are part of the immune system and normally manufacture antibodies (called immunoglobulins), which defend the body from infections by sustaining an immunological humoral antibody response.

Front 57

A pt presents with mucosal bleeding and prolonged bleeding time. What is this?

Back 57

Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)

Front 58

A pt presents with multiple colon polyps, osteomas/soft tissue tumors, impacted supernumerary teeth.

Back 58

Gardner's Syndrome
(subtype of FAP)

autosomal dominant familial polyposis coli gene on chromosome 5

Front 59

Myopathy, (infantile hypertrophic cardiomyopathy), exercise intolerance

Back 59

Pompe's disease
(lysosomal alpha 1,4-glucosidase deficency)

autosomal recessive metabolic disorder[1] which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolis. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.

Front 60

Necrotizing vasculitis (lungs) and necrotizing glomerulonephrotis

Back 60

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

Front 61

Neonate presents with with arm paralysis following a very difficult birth. What is this?

Back 61

Erb-Duchenne's palsy
(superior trunk C5-C6 brachial plexus injury) waiter's tip

Front 62

No lactation postpartum, absent menstration, cold intolerance

Back 62

Sheeman's syndrome (pituitary infarction)

It is a rare complication of pregnancy, usually occurring after excessive blood loss. The presence of disseminated intravascular coagulation (i.e., in amniotic fluid embolism or HELLP syndrome) also appears to be a factor in its development.

Front 63

Nystagmus, intension tremor, scanning speech, bilateral internuclear opthalmoplegia

Back 63

Multiple Sclerosis

Front 64

Oscillating slow/fast breathing

Back 64

Cheyne-Stokes respirations
(central apnea in CHF or increase in intracranial pressure)

Front 65

Pt has painful blue fingers and toes and hemolytic anemia

Back 65

Cold Agglutinin disease
(autoimmune hemolytic anemia caused by MYCOPLASMA PNEUMONIA, or infectious mononucleosis)

Front 66

Pt has painful PALE cold fingers and toes:

Back 66

Raynaud's syndrome (vasospasm in extremities)

Front 67

You see painful raised red lesions on palms and soles?

Back 67

Osler's node (infective endocarditis)

Front 68

Painless erythematous lesions on palms and soles

Back 68

Janeway lesions
(infective endocarditis)

Front 69

Painless jaundice

Back 69

Cancer of the pancreatic head obstructing the bile duct

Front 70

Palpable purpura on the buttocks/legs, joint pain, abdominal pain see in a child

Back 70

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

Front 71

Pancreatic, Pituitary, parathyroid tumors

Back 71

MEN 1 (autosomal dominant)

Front 72

Pink complexsion, dyspnea, and hyperventilation

Back 72

Pink Puffer (emphysema: centroacinar [smoking], panacinar [alpha1-antitrypsin def])

Front 73

Polyuria, acidosis, growth failure, electrolyte imbalances

Back 73

Fanconi's syndrome (proximal tubular reabsorption defect)

Front 74

Ptosis, miosis, anhidrosis

Back 74

Horner's syndrome (SNS chain lesion)