Leukodystrophy - Study guides, Class notes & Summaries

A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing. Genetic testing shows mutation in the FGF3 gene. What disease? correct answers Achondroplasia A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. W...

NBME CBSE EXAM 2023 (Answered) Bulbus cordis Smooth parts (outflow tract) of left and right ventricles endocardial cushions Atrial septum, membranous interventricular septum; AV and semilunar valves neural crest left horn of the sinus venosus coronary sinus posterior, sub cardinal, and supra cardinal veins IVC Right common cardinal vein and right anterior cardinal vein SVC Right horn of sinus venosus Smooth part of right atrium (sinus venarum) Patent foramen ovale failure of s...

Dirty Medicine mnemonics exam 2023 with complete solution My FABRite activity is making a CERAMIc galaxy, sorry to seep HARPing on it Fabry disease Deficiency: α-galactosidase A Accumulation: ceramide Findings: hypohidrosis, angiokeratomas, renal failure, peripheral neuropathy OMGauch he's such a BRO Gaucher disease Deficiency: glucocerebrosidase Accumulation: glucocerebroside Findings: osteoporosis, most common, gross femoral head (AVN) A GANG of SIX SMALL Jews Tay-Sachs disease...

Dirty Medicine mnemonics exam 2023 with complete solution My FABRite activity is making a CERAMIc galaxy, sorry to seep HARPing on it Fabry disease Deficiency: α-galactosidase A Accumulation: ceramide Findings: hypohidrosis, angiokeratomas, renal failure, peripheral neuropathy OMGauch he's such a BRO Gaucher disease Deficiency: glucocerebrosidase Accumulation: glucocerebroside Findings: osteoporosis, most common, gross femoral head (AVN) A GANG of SIX SMALL Jews Tay-Sachs disease...

CXCR4 Regulates trafficking and homing of stem cells Expressed on surface of HSCs 1st stem cell transplant 1960's, infant with immunodeficiency disorder, matched sib SDF-1 Secreted by bone marrow stromal cells Involved in retaining HSCs within bone marrow as well as releasing HSCs into circulation Stem cell retention in bone marrow Involves SDF-1 gradient, cellular adhesion molecules (CAMs), and binding action of CXCR4 Myeloid progenitor cells differentiate...

SMARTBOOK, Exam Questions and answers, rated A+ # different types of neuronal injuries - -1 Acute (red neuron, IRREVERSABLE) --> Transient severe insult that leads to cell death = SHRINKAGE + pyknosis + LOSS of nissle substance + eosinophillic cytoplasm 2 Axonal reaction --> Loss of axon = ENLARGEMENT + DISPERSION of nissle (increased protien production) 3 Neuronal Atrophy --> Progressive degenerative disease = Loss + reactive gliosis 2 colon areas affected due to hypoxia - ...

USMLE step 1 – biochemistry Exam Study Guide Solutions infant with somnolence, vomiting, cerebral edema, decreased BUN, hyperammonemia - ANSWER- ornithine transcarbamoylase deficiency infantile cataracts, doesn't track objects, absent social smile - ANSWER-galactokinase deficiency infantile cataracts, hepatomegaly, jaundice, failure to thrive - ANSWER-uridyltransferase deficiency causes of Down syndrome - ANSWER-1) meiotic nondisjunction (95%) 2) unbalanced robertsonian translocation...

ALL Webpath and Quizzes for Exam 3 Combined 2023 with complete solution @ STUVATE –STUVIA A 25-year-old man falls while skateboarding and strikes the left side of his head against a concrete retaining wall. On physical examination only a minor scalp abrasion is present at the site of the impact, with minimal bleeding that stops in 3 minutes. He is initially alert following this accident, but then became unconscious 30 minutes later. A head CT scan reveals a convex, lens-shaped area of hemorr...

A boy walks in to your clinic. His father has similar features. Both father and son are around 4 ft and complain of never finding a hat that fits. Physician confirms boiling of the legs and frontal bossing. Genetic testing shows mutation in the FGF3 gene. What disease? correct answers Achondroplasia A girl comes to clinic after a cardiac evaluation. She was born with a VSD and radiographic images show butterfly shaped vertabrae. Upon further examination, you notice her skin looks jaundiced. W...

NBME CBSE Latest Updated 2022, graded A+ Document Content and Description Below NBME CBSE Latest Updated 2022 Bulbus cordis Correct Answer-Smooth parts (outflow tract) of left and right ventricles endocardial cushions Correct Answer-Atrial septum, membranous interventricular se ptum; AV and semilunar valves neural crest left horn of the sinus venosus Correct Answer-coronary sinus posterior, sub cardinal, and supra cardinal veins Correct Answer-IVC Right common cardinal vein and right anterior ...