week 1 Flashcards
RAS is a (TS/ P-Onc?) associated with what cancer?
Oncogene responsible for cholangiocarcinoma and pancreatic adenocarcinoma
c-Myc is a (TS/ P-Onc?) associated with what cancers?n
Oncogene responsible for Burkitt Lymphoma
EGFR a (TS/ P-Onc?) associated with what cancers
Oncogene associated with Adenocarcinoma of the lung
HER2 is a (TS/ P-Onc?) associated with what cancers
Oncogene associated with breast cancer
ABL is a (TS/ P-Onc?) associated with what cancers
oncogene associated with CML
BRAF (RAS signal transduction) is a (TS/ P-Onc?) associated with what cancers?
oncogene associated with melanoma and hairy cell leukemia
BRCA1/2 is a (TS/ P-Onc?) associated with what cancers
Ts; Ovarian and breast
APC/ Beta-Catenin/ WNT pathway is a (TS/P-onc?) associated with what cancers
Ts; Colon, gastric, pancreatic; Familial Adematous polyposis
TP53 is a (TS/ P-Onc?) associated with what cancer?
Ts; all Cancer; Li-fraumeni Syndrome
Rb is a is a (TS/ P-Onc?) associated with what cancer?
Ts; Retinoblastoma and osteosarcoma
BRCA1/2 Defects are associated with what kind of DNA Repair mechanism?
Ts; Homologous DNA Repair
WT-1 is a (TS/ P-Onc?) associated with what cancer?
ts: Wilms Tumor
VHL is a (TS/ P-Onc?) associated with what cancer?
ts; Renal Cell carcinoma; Von Hippel Lindau
Lysosomal storage disease: Cherry red spot on macular, hepatosplenomegaly, neurological regression
Niemann Pick Disease
Niemann Pick disease is an accumulation of what? Due to what deficiency?
Accumulation of Sphingomyelin due to deficient sphingomyelinase
Lysosomal storage disease: neuropathic pain, germ pathology like angiokeratoma and telangiectasia)
Fabry Disease
Fabry’s disease is an accumulation of what? Due to what deficiency?
Accumulation of Ceramide Trihexodase/ Globotriascylceramide due to Alpha-galactosidase A deficiency
Lysosomal storage disease: neurological regression, cherry red spot
Tay Sachs Disease
Tay Sach’s is an accumulation of what? Due to what deficiency?
Accumulation of GM2 due to deficient Hexosaminidase
Lysosomal storage disease: hepatosplenomegaly, bone pain/ crisis, pancytopenia
Guacher’s Disease
Guacher’s Disease is an accumulation of what? Due to what deficiency?
accumulation of Glucocerebroside due to a deficiency in Beta-Glucocerebrosidase
Lysosomal storage disease: central and peripheral demyelination leading to peripheral neuropathy and ataxia
metachromatic Leukodystrophy
Metachromatic leukodystrophy is an accumulation of what? Due to what deficiency?
Cerebroside Sulfate due to Arylsulfate A deficiency
Lysosomal storage disease: developmental delay, optic atrophy, hypotonia, seizures
Krabbe Disease
Krabbe Disease is an accumulation of what? Due to what deficiency?
Accumulation of galactocerebroside due to a deficiency in galactocerebrosidase.
transmural inflammation, perianal fistulas, skip lesions, non-caseating granulomas
Crohns Disease
Continuous mucosal involvement, cryp abscess, toxic megacolon, perforations, lead pipe appearance on imaging, friable- with ulcerations grossly
Ulcerative colitis
Associations of ADPCKD
berry aneurysms, benign hepatic cysts, diverticulosis and mitral valve prolapse
hematuria, hypertension, urinary tract infection and renal failure–> ADPCKD mutation?
PKD1, PKD2;
Associations of ARPCKD
congenital hepatic fibrosis, oliguric renal failure in utero can cause potter sequence
Which rotator cuff muscles are responsible for external rotation of the arm
Infraspinatus and theres minor
Which rotator cuff muscles are responsible for abduction of the arm
Supraspinatus
Which muscles of the rotator cuff are responsible for adduction of the arm
subscapularis and teres minor
Which muscle of the rotator cuff is responsible for internal rotation
subscapularis
Ankylosis, restrictive lung disease, aortic regurgitation and anterior uveitis is all part of what Spondyloarthropathy
Ankylosing spondylitis; Rheumatoid factor absent arthritis
The organ respond for muscle relaxation when muscle exerts too much force
Golgi tendon organ (muscle fibers in series)
Muscle fibers responsible for the stretch reflex and the and deep tendon reflex
intramural muscle fibers (muscle fibers in parallel)
blueish black CT, ear cartilage, and sclera; Urine turns black on prolonged exposure to air; deficiency of what enemy
Homogentisic oxidase; Alkaptouria
Two main causes of albinism
Chediak Hagashi (failure of phagolysosome fusion); Tyrosinase deficiency (cant make melanin)
overuse injury of the secondary ossification center of the tubercle (apophysis); presents as pain and swelling of the tibial tubercle (the insertion site of the patellar ligament) caused by repetitive contractions or repeated avulsions
Osgood- Schlatter disease; Traction Apophysitis
Hip/ Knee pain that results in an altered gait in an 12-year old obese child
Slipped capital femoral epiphysis treatment requires surgery
Abnormal Ortolani and barlow manuevers that reveal hip instability or dislocation
Abnormal acetabulum development in newborns= developmental dysplasia of the hip
Avascular necrosis of the femoral head in children
Legg-Calve Perthes Disease
De Quervain tenosynovitis is associated with non-inflammatory thickening of what tendons of the hand
abductor pollicis longus and extensor pollicis brevis
thigh adduction
superior gluteal L4-S1
thigh extension
inferior gluteal L5-S2
thigh adduction
Obturator L2-L4
+ Anti- Saccharomyces Cerevisae Ab
Associated with Crohn’s Disease
MSH2, MLH1, MSH6, PMS2 is associated with what cancer syndrome?
Lynch Syndrome: endometrial, colonic and ovarian cancer; does not cause polyps
