Li fraumeni syndrome - Study guides, Class notes & Summaries

ABSITE question with complete solution 2023 verifiedMUTYH-associated polyposis (MAP) - correct answer Type of polyp: Adenomatous Assoc. Ca: Gastric, Duodenum, breast, ovarian, bladder Extracolonic: N/A Gene: MUTYH Other: Predominately right-sided polyps, ~10 Familial Adenomatous Polyposis (FAP) - correct answer Type of polyp: Adenomatous Assoc. Ca: Duodenum (MC), gastric, pancreatic, desmoid, thyroid, CNS, hepatoblastoma Extracolonic: Osteomas, dental, hypertrophy of retinal epithelium,...

ASCP MB Final Exam Practice Questions with Correct Answers 2023 (Already Graded A+) Lining up 2+ sequences to search for maximal regions of identity in order to assess extent of relatedness/homology Bioinfo: Local alignment - Answer Alignment of some portion of 2 sequences Bioinfo: Multiple sequence alignment - Answer Alignment of 3+ sequences arranged with gaps so that common residues are aligned together Bioinfo: Optimal alignment - Answer Alignment of 2 sequences with best degree of ide...

SCID (severe combined immunodeficiency) correct answers disturbed development of T and B cells- one of the major causes is adenosine deaminase deficiency (excess dATP and ATP imbalances nucleotide pool and prevents DNA synthesis- lowering lymphocyte count) Lesch-nyhan syndrome correct answers defective purine salvage pathway due to absent HGPRT (which converts hypoxanthine to IMP and guanine to GMP) --> results in hyperuricemia from excess uric acid production and de novo purine synthesis....

CNRN-Tumors Exam 21 Questions with Verified Answers Astrocytoma - CORRECT ANSWER Star-shaped glioma derived from astrocytes (maintain health of nerve cells). Astrocytomas are frequently found in the cerebrum, cerebellum, hypothalamus, optic nerve, pons and also the spinal cord. Several types: Brain stem gliomas - rare, in adults and hard to cure Pineal Astrocytic tumors - form around the Pineal Gland Pilocystic astrocytomas - Mostly in children and young adults (and those with neurof...

BCR-ABL Genes involved in cancer caused by t(9;22) CML Cancer caused by t(9:22) EWS-FLI1 Genes involved in cancer caused by t(11;22) Ewing sarcoma Cancer caused by translocations involving 22q12 HER2(ERBB2) - 17q21.1 Receptor tyrosine kinase commonly overexpressed in breast cancer IHC, rtPCR, FISH Methods used to assess overexpression of common oncogenes KRAS Most common oncogene in human cancer, which activates MAPK pathway t(11,22)(q24,q12) Most co...

ASCP MB 2023/2024 E. coli RNA Polymerase II - Answer DNA template, product: mRNA RNA Polymerase I - Answer DNA template Location: Nucleous Products: 18s, 5.8s, 28s rRNA RNA Polymerase II - Answer DNA template Location: Nucleus Products: mRNA, snRNA RNA Polymerase III - Answer DNA template Location: Nucleus Product: tRNA, 5s rRNA, snRNA Mitochondrial RNA Polymerase - Answer DNA template, product: mRNA Mammalian DNA polymerase α - Answer DNA template, product: primers ...

STEP - NBME 21 and 22 Exam Questions With Correct Answer best diuretic in renal failure - CORRECT ANSWER loop diuretics tetrabenzine and reserpine - CORRECT ANSWER inhibit VMAT - the packaging of dopamine into vesicles treats Huntington chorea and tardive dyskinesia how many liters are in 1 kg - CORRECT ANSWER 1 L study power - CORRECT ANSWER the chance that a study of this size will detect a difference between t...

What is CML Chromic Myelogenous Leukemia Chromosome: N/A Translocation: 11:22 or 9:22 Methods of diagnosis: FISH:CISH What is EWS EWINGS Sarcoma/ cancer, solid tumors Chromosome: N/A Translocation: 11:22 Methods of Diagnosis: RTPCR What is ALL Acute Lymphoblastic Leukemia Chromosome: N/A Translocation: 9:22 Methods of Diagnosis: FISH:CISH:RTPCR What is FL Follicular Lymphoma Chromosome: N/A Translocation: 14:18 Methods of Diagnosis: FISH:RTPCR What is ...

What antiretroviral prevents entry into a CD4+ t-cell - Answer- Enfuvirtide Severe pain after meals (better when she doesn't eat), unintentional weight loss, hx of atherosclerosis + abdominal bruit and absent pedal pulses. What artery could be atherosclerotic? - Answer- Superior Mesenteric What is the inheritance pattern of Fragile X? How does transmission change if the mother has fragile X vs. the father? - Answer- It is X linked dominant (like hypophosphatemic rickets and Alports) Mo...

CPHON Exam 48 Questions with Verified Answers Thalassemia - CORRECT ANSWER Inherited defect in production of hemoglobin chain. Destruction of RBC. Treatment: frequent RBC transfusions Sickle Cell Disease - CORRECT ANSWER inherited defect of hemoglobin causing sickling. destruction of RBC hemophilia - CORRECT ANSWER Congenital deficiency in clotting factor. prolonged bleeding. von Willebrand Disease (vWB) - CORRECT ANSWER inherited deficiency or defective clotting protein. mucous...