Gaucher type 1 - Study guides, Class notes & Summaries

Genetic Counseling Boards summary study guide verified 100% *Sickle Cell* Genetics Phenotype Diagnosis Treatment - *Genetics:* HbSS Gluexon6Val mutation in HBB gene chr. 11p15.4 *Phenotype:* Structurally abnormal Hb Manifests at 6-12 months (HbF --> HbA) Painful crises, anemia, organ damage, pulmonary HTN *Diagnosis:* Hb electrophoresis *Treatment:* hydroxyurea (stimulates HbF) *Alpha-thalassemia* Genetics Phenotype - *Genetics:* 2 alpha globin genes (4 allel...

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...

Comprehensive Basic Science Exam (CBSE) Review Set I with 100% correct and verified answers

Goal of Transplant -Cure disease -Increase disease free survival Hematopoiesis -Regulation, production and development of blood cells -Pluripotent Stem cells -Progenitor Stem Cells. -Myeloid and lymphoid lineage Myeloid progenitor cells mature into: Megakaryocytes (platelets) Erythrocytes Mast cells Myeloblasts Lymphoid progenitor cells mature into: Small lymphocytes (B cells/T cells) Natural Killer Cells B cells -Develop in the bone marrow -Differentiat...

Chagas Disease - 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- difficulty swallowing Enlarged colon- abdominal pain or constipation Treat wit...

Chagas Disease correct answerCaused 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 Trea...

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, sud...

Which of the following condition is the most common cause of increase anion gap? A. Metabolic alkalosis B. Metabolic acidosis Respiratory acidosis Respiratory alkalosis - B. Metabolic acidosis High anion gap metabolic acidosis is caused generally by the body producing too much acid or not producing enough bicarbonate. This is often due to an increase in lactic acid or ketoacids, or it may be a sign of kidney failure. More rarely, high anion gap metabolic acidosis may be caused by ingesting meth...

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...

1 / 14 1. PCR can test for what diseases?: Hep - B Herpes simplex 1 Herpes simplex 2 HIV HPV Epstein-barr Cytomegalovirus Cystic fibrosis Huntingtons Bk virus Fragile X Parovirus 2. qPCR can test for what diseases?: Herpes simplex 1 Herpes simplex 2 Epstein-barr HPV HIV Cytomegalovirus Bk virus VZV 3. RT PCR can test for what diseases?: HIV Influenza Coronavirus Ewing sarcoma Synovial sarcoma Hep - C 4. Multiplex PCR can test for what diseases?: B. pertussis M. pneumo...