Gurustudy

ABGC: American Board of Genetic Counseling, Inc. Which of the following features identified by fetal u/s is MORE commonly associated with T18 than T21? a) nuchal thickening b) duodenal atresia c) echogenic bowel d) choroid plexus cyst - Answer-D: choroid plexus cyst A 20 y.o. man and his family are seen for genetic counseling to discuss his recent diagnosis of Charcot-Marie-Tooth (CMT) disease. After introductions, which of the following would be the BEST next step for the genetic co...

ABGC Boards - Final Review Hereditary Breast and Ovarian Cancer - Answer-BRCA 1/2 Breast 50-87% Second primary tumor 50-64% BRCA 1: 20-45% BRCA 2: 10-30% BRCA 2: Male breast 6-10% Li-Fraumeni Syndrome - Answer--Sarcoma, breast, leukemia, adrenal and many others -May present in almost every way (ie all family members with same cancers or all with different) -Adrenocortical carcinoma considered pathognomonic -50% have some type by 30, 90% by age 60 -TP53 accounts for 70% of indivi...

ABGC Boards Prenatal Study Set T21 Risk by Maternal Age - Answer-Age-------------------------------Risk 30 --------------------------------1/952 (.1%) 35 --------------------------------1/385 (.3%) 37 --------------------------------1/227 (.4%) 40 --------------------------------1/106 (.9%) 43 --------------------------------1/50 (3.1%) Risk of Any Chrom Abnl by Maternal Age - Answer-Age--------------------------------Risk 30---------------------------------1/384 (0.3%) 35----------...

ABGC Boards - Psychosocial What are the 3 tenets of person-centred counselling? - Answer-1) Respect 2) Genuineness 3) Empathy What is respect in genetic counselling? - Answer-Acceptance of patient What is genuineness in genetic counselling? - Answer-Being yourself within the capacity of being a genetic counsellor What is congruence in genetic counselling? - Answer-Agreement between a counsellor's inner and outward responses What is primary empathy in genetic counselling? - Answ...

ABGC Boards Overview Angelman Syndrome causes (expression and % of total) - Answer-**paternal imprinting defect, should be maternal expression 5-7 kb deletion on maternal chr15q11.2-13 (60-70%) UBE3A maternal deletion (11%) Paternal UPD15 (3-7%) Angelman testing strategy and condition features - Answer-methylation first since finds ~80% of cases then UBE3A seq and del/dup features: happy demeanor, abnormal gait, seizures, delayed/absent speech Prader-Willi Syndrome causes (expr...

ABGC Board Exam (Genetic Counseling) Osteogenesis imperfecta - Answer-Genes: COL1A1 (ch17; more severe pheno w/mutn b/c there are 2 alpha strands vs. 1 beta strand), COL1A2 (ch7), form protein triple helix Type I -- AD, mild, blue sclera, brittle bones, no deformity collagen: normal quality, AMOUNT is reduced Type II: AD, neonatal lethal, abnormal collagen Type III: AD, progressive deforming, fractures at birth, small, blue sclera Type IV: AD, normal sclera, mild/mod bone deformity, shor...

ABGC Cert Exam 1. Which of the following features identified by fetal ultrasound is MORE commonly associated with trisomy 18 than with trisomy 21? A. nuchal thickening B. duodenal atresia C. echogenic bowel D. choroid plexus cyst - Answer-D 2. A 20-year-old man and his family are seen for genetic counseling to discuss his recent diagnosis of Charcot-Marie-Tooth (CMT) disease. After introductions, which of the following would be the BEST next step for the genetic counselor to take? ...

ABGC Boards When a family has multiple individuals in a family have pancreatic cancer, is this more likely to be due to a mutation in BRCA1 or BRCA2? - Answer-BRCA2 What genes are associated with Noonan syndrome? - Answer-PTPN11, SOS1, KRAS What heart defects can be seen in Noonan syndrome? - Answer-Pulmonary valve stenosis and hypertrophic cardiomyopathy Noonan syndrome follows what inheritance pattern? - Answer-AD What syndrome is associated with dysmorphic facies, short statu...

PAEA General Surgery EOR what are the 2 conditions under the inflammatory bowel disease umbrella? - Answer-1. ulcerative colitis 2. crohn's dz in comparing ulcerative colitis and crohn's dz, which is: -limited to the colon w/ rectum always involved *VS* mouth to anus -transmural *VS* mucosa/submucosa involved -LLQ *VS* RLQ pain -bloody diarrhea *VS* non -complications of perianal dz, strictures, fistulas & granulomas *VS* colon cancer & toxic megacolon -colonoscopy showing "skip ...

Surgery EOR Exam _______is the most important anesthetic complication. Anesthesia causes an uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove CO2, and regulative body temperature. - Answer-Malignant hyperthermia If patient is hyperkalemic (normal range 3.8-5.0), how should you treat the patient? - Answer-treat with glucose/insulin, and calcium +/-bicarb _______is the reversing agent for opiods. - Answer-Naloxon...