Gaucher type 1 - Study guides, Class notes & Summaries

USMLE Actual preparation test exam with Thorough and Correct Answers Updated 2024/2025 Fever, cough, conjunctivitis, coryza, diffuse rash, Koplick spots - correct answer Measles Fever, night sweats, weight loss - correct answer B symptoms or TB Fibrous plaques in soft tissue of penis - correct answer Peyronie's disease Gout, MR, self-mutilating behavior in a boy - correct answer Lesch-Nyhan syndrome (HGPRT deficiency, X-linked recessive) Green-yellow rings around pe...

MTM Exam 4 Diseases Latest Update with Verified Solutions DMD -loss of function, recessive, haplosufficiency -symptoms present < 5 yoa -progressive symmetrical muscular weakness -wheelchair dependent by 12-13 yoa -life expectancy = teens - 30s -do not reproduce -calf pseudohypertrophy -elevated serum creatine kinase -unable to perform neck flexion -complete absence of dystrophin -mutations: deletions, frameshift, nonsense -exon length is NOT a multiple of 3 -frameshifts -> null mutations ...

NBME CBSE EXAM ACTUAL TEST QUESTIONS WITH VERIFIED ANSWERS Chagas Disease ---------- Correct Answer--------- Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF, sudden cardiac arrest Enlarged esophagus...

NBME CBSE REAL EXAM/ NBME CBSE 200 QUESTIONS AND ANSWERS/ NBME CBSE LATEST / Review (Recent Exam) Chagas Disease ---------- Correct Answer -------- Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF...

Oligodendrocytes Myelinating cells of CNS "fried egg" - Answer Drusen bodies Spotty white/yellow material in eye Age related macular degeneration - Answer Achilles tendon xanthoma [AD] Familial hypercholesterolemia (no LDL R) - Answer Cherry hemangioma Adult, benign - Answer Roth spots Retinal hemorrhage w pale center Bacterial endocarditis - Answer Keyser-Fleischer Ring Wilson's dz= Low ceruoplasmin Cu accumulation KF ring present= Basal Ganglia atrophy as wel...

©GRACEAMELIA 2024/2025 ACADEMIC YEAR. ALL RIGHTS RESERVED FIRST PUBLISH OCTOBER 2024 Page 3/122 Marjory tells a nurse that she has three aunts with cancer. The two on her father's side were diagnosed with breast and ovarian cancers at ages 42 and 36. She also has one aunt on her mother's side who was diagnosed with breast cancer at age 70. Marjory asks if she should have genetic testing. What should the nurse tell her? A. "Your family history indicates a high risk and you shoul...

Chagas Disease - ***Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF, sudden cardiac arrest Enlarged esophagus- difficulty swallowing Enlarged colon- abdominal pain or constipation Treat with benznida...

Chagas Disease - Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF, sudden cardiac arrest Enlarged esophagus- difficulty swallowing Enlarged colon- abdominal pain or constipation Treat with benzn...

NBME CBSE REAL EXAM/ NBME CBSE 200 QUESTIONS AND ANSWERS/ NBME CBSE LATEST / Review (Recent Exam) Chagas Disease ---------- Correct Answer -------- Caused by Trypanosoma cruzi parasite passed in the feces of Reduviidae/kissing bug Penetrates broken skin or intact mucous membranes forming a pseudocyst releasing inflammatory infiltrates into myocytes; stains with Giemsa & Wright Romana sign occurs when portal of entry is the conjunctiva or eyelid May resulting in: Enlarged heart- CHF...

Patients who are heterozygous for Hb Lepore have a clinical course: a. similar to that of alpha thalassemia minor b. similar to that of beta thalassemia minor c. similar to that of beta thalassemia major d. that is completely benign correct answers similar to that of beta thalassemia minor What of the following is a false statement regarding the alpha thalassemias? a. beta chains are in excess in utero b. Hgb Barts can form c. gamma chains are in excess in utero d. Hgb H can form corr...