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95 Cards in this Set
- Front
- Back
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Characteristics of Polycystic kidney disease (infant type)?
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AR
kidney cysts & liver cysts fatal |
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What causes hemochromatosis?
What happens to the body? |
small intestine absorbs too much iron
deposit in liver, pancreas, heart, skin --> cirrhosis, new onset TI DM, cardiomyopathy, bronze-colored skin |
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What are the characteristics of Chediak-Higashi Syndrome?
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WBC abnormal microtubules
-recurrent infections -lymphoid CA -partial albinism -neuropathy |
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What is the cause of Bernard-Soulier disease?
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lack GpIb (needed for platelet adhesion to vWF)
leads to excessive bleeding |
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What is the cause of Glanzmann's Thromboasthenia?
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lack GpIIbIIIa (needed for platelet-platelet aggregation)
leads to excessive bleeding |
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What is the cause of familial hypercholesterolemia?
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AD
abn LDL R (unable to process cholesterol in liver --> early, severe atherosclerosis) |
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What does a defect in spectrin cause?
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AD
Spherocytosis sphere-shaped RBC leads to anemia (spleen removes these cells) do spleenectomy to tx dz |
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What is the cause of Ehlers-Danlos syndrome?
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AD
abn collagen and/or elastin -hyperextensible skin & joints |
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What is the cause of Marfan syndrome?
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AD
deficiency in fibrillin --> defective microfibrils |
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What is this dz?
-very tall & thin -ectopia lentis -aortic dilation/aneurysm -arachnodactyly -mitral valve prolapse |
Marfan syndrome
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What is the cause of Achondroplasia?
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AD
decreased chondrocyte proliferation in growth plate of long bones -short long bones |
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What is the cause of NF1 (von Recklinghausen disease)? Characteristics?
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AD
-loss of NF1 gene (Chrom. 17) -neurofibromas -optic nerve gliomas -pigmented nodules in iris -cafe au lait spots **axillary freckles** |
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What is the cause of NF2 (acoustic neurofibromatosis)? Characteristics?
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AD
-loss of NF2 gene -bil schwannomas (CN VIII) -multiple meningiomas -hearing deficits |
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What is this?
-hamartomas & benign tumors of brain -cysts liver, kidney, pancreas -MR -facial angiofibromas -cutaneous lesions: Shagreen's patches, Ash leaf patches |
AD
tuberous sclerosis |
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What is this?
-capillary hemangiomas in cerebellum & retina -cysts liver, kidney, pancreas |
AD
von-Hippel Lindau |
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What cancer is von-Hippel Lindau associated with?
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**Renal cell CA**
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Characteristics of Huntington's disease?
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AD
-symptomatic at 30-40 & progressive -chorea, psychiatric disturbance, cognitive decline |
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What is the cause of huntington's disease?
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CAG repeat on chrom. 4
(the more repeats = earlier onset) |
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Degeneration of the caudate nucleus, putamen, frontal cortex is seen in what disease?
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Huntington's disease
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What is Polycystic kidney disease (adult form) associated with?
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High risk berry aneurysms
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Lack Factor VIII
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Hemophilia A
XR |
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Lack Factor IX
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Hemophilia B
XR |
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What kind of anemia do you get with G6PD deficiency?
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Hemolysis --> microcytic hemolytic anemia
inability to eradicate ROS (esp. RBCs) |
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What are the clinical findings in Fragile X?
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XR
-MR -large ears & jaw -males, bil macroorchidism -50% women have MR (with only 1 bad X) |
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What is the cause of Fragile X syndrome?
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triple repeats of CGG
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What makes Fabry disease different from other sphingolipidosis?
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-XR
-little/no CNS defects |
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What are the characteristics of Fabry disease?
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-decreased alpha-galactosidase A
-angiokeratomas -renal failure |
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What causes Lesch-Nyhan syndrome?
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XR
deficiency in hypoxanthine-guanine phosphoribosyltransferase (HGPRT) -leads to excessive uric acid (neurotox) -self-mutilation (involuntary) |
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-Lack dystrophin
-very high creatine kinase -proximal m. weakness -eventual m. atrophy |
Duchenne muscular dystrophy
XR |
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Becker muscular dystrophy
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XR
-decreased level of dystrophin -less severe |
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-low or absent MATURE B cells
-recurrent bacterial infections |
Bruton's agammaglobulinemia
XR |
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Classic triad of Wiskott-Aldrich syndrome?
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-otitis media
-eczema (TI hypersensitivity) -thrombocytopenia |
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What causes Wiskott-Aldrich syndrome?
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XR
-IgM dysfunction |
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What is the only XR mucopolysaccharidosis?
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Hunter's disease
-MR -normal cornea |
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What deletion do you see with Cri-di-chat
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5p
-high-pitched cat-like cry -microcephaly -MR |
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What deletion do you see with retinoblastoma?
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13q
-malignant retinal tumor of childhood |
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Paternally-derived c15 deletion
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Prader Willi Syndrome
-hypotonicity as infant -obesity -MR |
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Maternally-derived c15 deletion
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Angelman syndrome
-smiles -wide gait & ataxia -MR -inappropriate laughter |
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HLA A3 associated with what dz?
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Hemochromatosis
(a 3-iron) |
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HLA B27
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Ankylosing Spondylitis
Reactive arthritis Psoriatic arthritis |
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HLA DR2
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Narcolepsy
MS IDDM |
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HLA DR3
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SLE
IDDM Celiac disease |
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HLA DR4, Dw4, Dw14
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RA
Juvenile RA |
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Most common cause of
Amenorrhea |
Pregnancy
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Most common cause of
Pancreatitis |
Alcohol Abuse
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Most common cause of
Anemia |
Iron deficiency
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Most common cause of
Nephrotic syndrome |
kid - minimal change dz
adult - membranous glomerulonephritis |
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Most common cause of
Osteomyelotiis -DM & sickle cell pt -IV drug users |
Staph aureus
-Salmonella -Serratia & pseudomonas aeruginosa |
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Most common cause of
Constipation |
Dehydration
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Most common cause of
Kidney stones |
Dehydration
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Most common cause of
Pneumonia |
Strep pneumoniae
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Most common cause of
Ascites |
Alcoholic cirrhosis
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Most common cause of
Death |
Heart disease (in US)
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Most common cause of
Male Pseudohermaphrodism |
Testicular feminization
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Most common cause of
Female Pseudohermaphrodism |
Adrenogenital syndrome
(congenital adrenal hyperplasia) |
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Most common cause of
Calf claudication |
PVD
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Most common cause of
L-sided CHF |
CAD
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Most common cause of
Atherosclerosis |
high LDL-cholesterol
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Most common cause of
DVT |
blood stasis
(late pregnancy, post-surgery, prolonged immobility) |
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Most common cause of
Wheezing |
Asthma
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Most common cause of
Cold in fall/winter |
Rhinovirus
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Most common cause of
Cold in spring/summer |
Adenovirus
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Most common cause of
Bronchiectasis |
Cystic Fibrosis
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Most common cause of
Pleural effusion |
CHF
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Most common cause of
Pulmonary edema |
CHF
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Most common cause of
Septic shock |
Gram-negative bacteria
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Most common cause of
Poisoning (in US) |
Carbon monoxide
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Most common cause of
Iron deficiency at > 50 yo |
Colon CA
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Most common cause of
Vomiting |
Viral infection
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Most common cause of
Hematemesis |
Duodenal ulcer
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Most common cause of
Hematochezia |
Diverticulosis
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Most common cause of
Melena |
Duodenal ulcer
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Most common cause of
Acute RLQ pain |
Appendicitis
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Most common cause of
Acute infectious diarrhea |
norovirus
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Most common cause of
Small bowel obstruction |
Adhesions
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Most common cause of
Erectile dysfunction |
Diabetes
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Most common cause of
Hyperthyroidism |
Graves' disease
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Most common cause of
Hypothyroidism |
Hashimoto's disease
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Most common cause of
Yellow CSF (xanthochromia) |
Bleed in the CNS
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Most common cause of
Acute onset coma |
poisoning or drug overdose
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Most common cause of
Blindness in elderly |
macular degeneration
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Most common cause of
Tremor |
Essential tremor
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Most common cause of
Dementia |
Alzeheimer's disease
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Most common cause of
Psychosis |
Depression
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Most common cause of
HA |
Tension HA
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What types of hypersensitivity are seen in SLE
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Type II and III
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What is a sensitive test used for?
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Screening
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Typical pt characteristics with SLE
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-Black
-Women |
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What does VDRL test for?
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-Anti-cardiolipin Ab
-"false positive" for SLE -positive in Syphilis (Treponemum pallidum) |
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What are the 4 types of nephropathies seen in SLE?
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Mesangial dz (Class II - most common & mild)
Focal proliferative nephritis (Class III) Diffuse proliferative nephritis (Class IV - most severe) Membranous glomerulonephropathy (Class IV) |
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What is seen in SLE mesangial nephropathy?
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-transient proteinuria
-proliferation of mesangial matrix & mesangial cells |
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What is seen in SLE focal proliferative nephritis?
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-proteinuria & hematuria (microscopic)
-proliferation of mesangial matrix, cells & endothelium -focal lesion |
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What is seen in SLE diffuse proliferative nephritis?
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-nephrotic syndrome
-gross hematuria -proliferation of mesangium, endothelium, epithelium -crescent lesions -diffuse lesion -sub-endothelial IC |
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What is seen in membranous glomerulonephritis?
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-nephrotic syndrome
-endothelial thickening -sub-epithelium IC |
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What is this?
-autoimmune destruction of lacrimal & salivary glands |
Sjogren's syndrome
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