Unit 2 Diseases (Redone)

Front 1

Osteogenesis Imperfecta (brittle bone disease)

Caused by a group of specific gene mutations which result in defective collagen synthesis - tissue abnormalities of teeth, skin, eyes and bone.

Back 1

A young child presents with a history of multiple fractures after only walking down a curb. The patient also appears to have blue sclerae.

Front 2

Ehlers-Danlos Syndrome

An inherited disorder

Back 2

A patient presents with vascular bleeding, articular hypermobility, dermal hyperelasticity and tissue fragility.

Front 3

Osteolathryism

Collagen cross linking disorder

Back 3

A patient presents with collagen cross-linking deficiency brought on by dietary over-reliance on the seeds of Lathyrus sativus. Patient is starving and only eats this crop.

Front 4

Achondrogenesis

rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.

Back 4

A patient presents with very short trunk, arms, legs and neck, head appears large in relation to the trunk, small lower jaw and a narrow chest

Front 5

Scurvy

Ascorbic acid (vitamin C) deficiency

In the synthesis of collagen, ascorbic acid is required as a cofactor for prolyl hydroxylase and lysyl hydroxylase.

Bony lesions caused by impaired osteoid matrix formation (subperiosteal hemorrhage)

Back 5

A patient presents with spots on the skin, spongy gums, and bleeding from the mucous membranes.

Front 6

Systemic Lupus Erythematosus (SLE)

Prototype connective tissue disease; most often affects women of childbearing age

Creates extensive immune complex mediated inflammatory lesions involving multiple organ systems (particualrly the joints, skin, serous membranes, lungs and KIDNEYS)

Back 6

Patient presents with fever, malaise, lymphadenopathy and has been losing weight. The patient also complains of arthritis. There is a butterfly rash over the base of the nose.

Labs are ANA+

Front 7

Arnold Chiari Malformation

Pressure atrophy of displaced brain tissue; hydrocephalus from obstruction of the CSF outflow tract

Back 7

You order an MRI on a patient you suspect is hydrocephalic. The MRI reveals a downward displacement of the cerebellar tonsils and medulla through the foramen magnum.

Front 8

Rheumatoid Arthritis

Autoimmne disease, primarily affects synovial joints in hands. RF is an IgM immunoglobulin with anti-IgG Fc specificity. Occurs most often in HLA-DR4 positive individuals.

Back 8

A patient presents with swelling of the proximal interphalangeal and metacarophalangeal joints of the hands with stiffness in the mornings in BOTH hands.

Labs are RF+

Front 9

Juvenile Rheumatoid Arthritis

Back 9

A child presents with joint pain and flu like symptoms with acute fever.

Front 10

Ankylosing Spondylitis

HLA-B27 association

Back 10

A patient presents with vertebral and sacroiliac pain. An Xray is notable for bone fusion of the spine.

Front 11

Multiple Sclerosis

Destruction of myelin with relative preservation of axons.

Plaques in optic nerve, brain ste, and paraventricular areas

Back 11

A patient presents with nystagmus, intention tremor, and scanning speech. There is weakness of the lower extremities, visual disturbances, sensoy disturbances, and fears loss of bladder control.

Front 12

Guillain-Barre Syndrome (Acute idiopathic polyneuritis)

Acute inflammatory demyelinating disease primarily involving peripheral nerves

Back 12

A young adult presents with a history of diarrhea from aprevious viral infection. There is ascending muscle weakness and paralysis beginning in the foot and ascending upwards.

Labs reveal albumino-cytologic dissociation (increase in the level of albumin in cerebrospinal fluid without an accompanying increase in the number of cells)

Front 13

Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)

Same as Guillain-Barre but w/o history of infection

Back 13

A young adult presents with ascending muscle weakness and paralysis beginning in the foot and ascending upwards. There is no history of infection.

Labs reveal albumino-cytologic dissociation (increase in the level of albumin in cerebrospinal fluid without an accompanying increase in the number of cells)

Front 14

Mysthania Gravis

Autoimmune disorder caused by Ab against AChR at NMJ

Tx/ with anticholinesterase drugs

Back 14

A female patient presents with muscle weakness that gets worse with exercise. The patient experiences recovery upon rest. The patient is notable for ptosis, diploplia and dysphagia.

The patient has a history of thymoma/thymic hyperplasia.

Front 15

Lambert-Eaton Myasthenic Syndrome

Similar to MG but spares ocular muscles; antibodies against calcium channels at NMJ

Back 15

A patient complains that he gets fatigued easily. The symptoms are worse in the morning. You note no ocular muscle involvement.

Front 16

Polymyositis

Chronic inflammatory process involving proximal muscles of the extremities.
Elevated CK

Back 16

A patient presents with unilateral proximal muscle weakness often noted in the upper legs due to early fatigue while walking.

Labs reveal anti-Jo-1 antibodies

Front 17

Dermatomyositis

Chronic inflammatory process involving proximal muscles of extremities + rash

Elevated CK

Back 17

A patient presents with unilateral proximal muscle weakness often noted in the upper legs due to early fatigue while walking. You notice a reddish-pourple rash over exposed areas of the face and neck.

Front 18

Robertsonian Translocation

Back 18

Upon karyotyping a patient you notice that the long arms of two acrocentir chcromosomes are joined with a common centromere and the short arms are nowhere to be found.

Front 19

Reciprocal or balanced translocation

Since no genetic material is lost, balanced translocations are often clinically silent

Back 19

Upon karyotyping a patient you notice a break in two chromosomes that has lead to an exchange of chromosomal material. No genetic material appears to be lost.

Front 20

Klinefelter Syndrome

Occurs when there are two X chromosomes and one or more Y chromsomes. A single Barr body is noted in the typical XXY form.

Back 20

A male patient presents with striking hypogonadism. The patient has atrophic testes, tall stature, gynecomastia and is mildly retarded. The patient had no problems until puberty.

A karyotype reveals 47XXY

Front 21

Turner's Syndrome

Complete or partial monsomy of the X chromosome.

"XO (hugs and kisses) from tina turner)

Back 21

A female patient presents with hypogonadism. She has never had a period. Upon examination of her ovaries you notice fibrous streaks. There is poor breast development and infantile genitalia. The girl also has short stature, a webbed neck, and a shield like chest with widely spaced nipples and wide carrying angle of the arms.

Karyotping demonstrates an XO karyotype (45X)

Front 22

Limb Girdle Dystrophy

Mutation that causes sarcoglycan deficiency

Back 22

A patient presents with weakness and wasting in the proximal muscles of the shoulder and pelvic girdle.

Front 23

Emery Dreifuss Dystrophy

EMD or LMNA gene mutation messed up proteins responsible for nuclear envelope

Back 23

Patient presents with contractures in the elbows, ankles, and neck

Front 24

Duchenne Muscular Dystrophy

X linked inheritance; mutation that leads to a deficiency in dystrophin

Back 24

A young male child presents with weakness at 1 year of age which progresses to immobilization, wasting, muscle contracture, and death in early teens from a pneumonia infection causes by weak respiratory muscles.

Labs reveal increased serum CPK. You notice compensatory hypertrophy at distal muscles sites (calves) that is eventually followed by pseudohypertrophy.

Front 25

Becker's Muscular Dystrophy

X linked inheritance; truncated dystrophin (instead of absent as in EMD)

Back 25

You see a patient present similarly to a Duchenne Muscular Dystrophy patient you saw earlier that week but the illness is not as bad.

Front 26

S. aureus

Back 26

A patient presents with osteomyelitis with an unremarkable history.

Front 27

Neissseria gonorrhoeae (rare)

Back 27

A sexually promiscuous patient presents with osteomyelitis - what is the likely causative organism?

Front 28

Pseudomonas aerguinosa

Back 28

A diabetic patient with a history of drug abuse presents with osteomyelitis. What is the most likely causative organism?

Front 29

Salmonella

Back 29

A patient presents with osteomyelitis after eating old, contaminated food. Blood examination reveals sickled erythrocytes. What is the causative organism?

Front 30

S. aureus and S. epidermidis

Back 30

A patient with a prosthetic leg, and arm presents with osteomyelitis. What are the two most likely causative organisms?

Front 31

Verbebral osteomyelitis; potts dx via TB

Back 31

A patient presents with vertebral tenderness and a history of TB

Front 32

Osteomyelitis via pastuerella multocida cat/dog bites or scratches

Back 32

A patient presents with bone pain and was recently scratched by a cat and then bitten by a dog.

Front 33

Epidural Hematoma

Most often with laceration of branches of the middle meningeal artery

Back 33

A patient presents with a short period of consciousness (lucid interval) followed by rapidly developing signs of cerebral compression.

Front 34

Subdural Hematoma

Venous bleeding from bridging veins joining the cerebrum to venous sinuses within the dura

Back 34

A patient presents with gradual signs of cerebral compression occuring hours to days or even weeks after head injury.

Front 35

Streptococcus pneumoniae

Back 35

An older adult presents with meningitis symptoms. What is the most likely causative organism?

Front 36

Neissseria meningitidis

Back 36

An young adult presents with meningitis symptoms. What is the most likely causative organism?

Front 37

Haemonphilus influenzae

Back 37

An older infant and young child presents with meningitis symptoms. What is the most likely causative organism?

Front 38

Escherichia coli.

Back 38

A newborn presents with meningitis symptoms. What is the most likely causative organism?

Front 39

Cryptococcus neoformans; coccidioides immitis; aspergillus or histoplasma

Back 39

A immunocompromised patient is suspected of having a brain fungal infection. What are the four most likely causative organisms?

Front 40

Weber's Syndrome (Alternating Hemiplegia)

Affects basis pedunculi and exiting oculomotor fibers

Back 40

A neurological examination reveals right severe ptosis, right eye look down and out, left sided spastic hemiparesis, and left sided lower facial weakness.

Front 41

Millard-Gubler Syndrome

Sixth nerve palsy + contralateral hemiplegia

Lesion in the medial inferior pons from an occlusion of the paramedian branches of the basilar artery

Back 41

Neurologic examination reveals right sided sixth cranial nerve palsy (internal strabismus), left sided facial weakness, left sided hemiparesis, and right sided limb/gait dystaxia.

Front 42

Parinaud Syndrome

Lesion in the dorsal midbrain at the tectum. Frequently results from tumor in the pineal region which compresses the superior colliculus and the underlying accessory oculomotor nuclei.

Back 42

Neurologic examination reveals paralysis of upward and downward gaze, absence of convergence, and absence of pupillary reactions to light.

Front 43

Lateral Inferior Pontine Syndrome

Results from occlusion of the long circumferential branch of the basilar artery, AICA

Back 43

A patient presents with (ipsilateral facil nerve paralysis),(nystagmus, nausea, vomiting, vertigo), ipsilateral loss of pain and temp sensation from the face, contralateral loss of pain and temperature sensation from the trunk and extremities and an ipsilateral Horner's syndrome (ptosis, miosis and hemianhidrosis)

Front 44

Benedik't Syndrome

Occurs from occlusion of the paramedian midbrain branches of the posterior cerebral artery

Back 44

A patient presents with ipsialteral oculomotor nerve paralysis, eye is abducted and depressed with severe ptosis and fixed dilated pupil. Contralateral cerebellar dystaxia with intention tremor and a contralateral loss of proprioception, discriminative tactile sensation, and vibration sensation from trunk and extremities.

Front 45

Osteoporosis

Decrease in bone mass/hypodense bone. Due to decreased osteoblast or increased osteoclast activity.
Exacerbated by postmenopausal states (estrogen deficiency), inactivity, hypercorticism, or a calcium deficiency.

Back 45

A postmenopausal women presents with compression fractures in the spine.

Labs reveal normal calcium, normal phosphorus, and slightly decreased alkaline phosphatase.

Front 46

Rickets

Vitamin D deficiency in CHILDREN

Causes inadequate calcification since vitamin D absorbs calcium from gut

Back 46

A child presents with carniotabes (thinning/softening of occipital and parietal bones), late closing of fontanelles, and bowed legs.

Lab show slightly decreased/normal blood calcium, and slightly increased/normal alkaline phosphatase.

Front 47

Osteomalacia

Vitamin D deficiency in ADULTS

When secondary to renal disease its called renal osteodystrophy

Back 47

A patient comes in with weak bones. A radiographic image shows diffuse radiolucency, which can potentially mimic osteoporosis. Being a good clinician you know better!

Labs show decreased/normal calcium and increased/normal ALP

Front 48

Osteitis Cystica (Von Recklinghausen's Disease of Bone)

Back 48

A patient presents with "brown tumor" of the bone, which are cystic spaces lined by osteoclasts and filled with vascular fibrous stroma that are brown due to hemorrhage. The patient has a history of hyperparathyroidism which you suspect has caused widespread osteolytic lesions.

Labs show increased blood calcium, decreased phosphorus, and increased alkaline phosphatase.

Front 49

Pagets Disease of Bone

Back 49

An MRI of an elderly patient complaining of bone pain and frequent fractures shows an abnormal bony architecture. You suspect an increase in both osteoblastic and osteoclastic activity.

Labs show normal calcium levels, normal phosphorus levels, but MARKEDLY INCREASED ALP!

Front 50

Osteopetrosis (marble bone disease)

Caused by failure of osteoclastic activity leading to increased bone density

Back 50

A patient presents with multiple fractures and anemia. MRI reveals "erlenmyer flask" bone deformities.

Front 51

Reiter's Syndrome

Back 51

A patient presents with urethritis, conjunctivitis, and arthritis with a history of veneral and intestinal infection.

Front 52

Psoriatic Arthritis

Occurs in 10% of patients with psoriasis

Back 52

A patient presaents with a history of chronic inflammatory papules and plaques with silvery scaling on the extensor surfaces of the elbows and knees. The patient is now developing finger pain in their joints.

Front 53

Arthritis Associated with IBD

Back 53

A patient has a history of inflammatory bowel disease starts developing peripheral joint pain.

Front 54

Prostate Carcinoma

Back 54

A patient has elevated PSA (protein specific antigen)

Front 55

Ovarian, malignant epithelial tumors

Back 55

A patient has elevated CA-125

Front 56

Carcinoembryonic antigen; very nonspecific but produced by 70% of colorectal and pancreatic cancers as well as gastric and breast carcinomas.

Back 56

A patient has elevated CEA

Front 57

Pancreatic adenocarcinoma

Back 57

A patient has elevated CA-19-9

Front 58

Mercury Poisoning

Back 58

A patient presents with peripheral neuropathy (presenting as paresthesia or itching, burning or pain), skin discoloration (pink cheeks, fingertips and toes), swelling, and desquamation (shedding of skin).

Front 59

Supranuclear Palsy

Back 59

A patient presents with Parkinsonian like symptoms plus opthalmoplegia (primarily downward gaze paralysis)

Front 60

Huntington Disease

Associated with severe degeneration of the cholinergic and GABA-ergic neurons in the caudate nucleus and putamen.

Back 60

This patient presents with choreiform movements and progressive dementia.

Front 61

Calcitonin

Moves calcium IN to bones, inhibits osteoclasts

Back 61

A patient has an overactive parathyroid gland and thus suffers from osteoporosis. . What medication could you give him to counteract this?

Front 62

GC can cause osteoporosis. You could give calcitonin, biphosphates, or even calcium supplements

Back 62

A patient presents with acute inflammation. You decide to give glucocorticoids to decrease the production of leukotrienes and prostaglandins by inhibiting phospholipase A2 and expression of COX-2. What side effect must you look out for and what other medications could you give to counteract this?

Front 63

These drugs inhibit the osteoclastic proton pump necessary for dissolution of hydroxyapatite, decrease osteoclastic formation/activation, and increase osteoclastic apoptosis.

Back 63

You give a patient a biphosphonate to decrease the risk of osteoporosis while on glucocorticoids. What is the mechanism of action of these drugs?