Myotonic dystrophy Study guides, Revision notes & Summaries

Generic Boards Review summary study guide rated 5 stars (rcommended to getting straight As) Osteogenesis imperfecta - 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 ...

If 13 year old patients concern is excess vaginal spotting do yu need to measure FSH or LH ----------- Correct Answer ------- No Patients with wiskott aldrich syndrome are particularly susceptible to (3) infections ----------- Correct Answer ------- Strep pneumo, neisseria, h flu Patients with wiskott aldrich syndrome are particularly susceptible to what disease (2) ----------- Correct Answer ------- Autoimmune disease, leukemia Which ig values are normal in wiskott aldrich? Which are l...

25 yo F at 27 weeks w/ severe contractions x6 hours, vaginal spotting, contractions every 2-3 mins w/ FHR 130 and no decels, cervic 1-2 cm and 70% effaced, GBS is positive. next step? IM beclamethasone THEN later can give penicillin man w/ 15 yr hx of difficult relaxing hands after tightly gripping objects or shaking hands, difficulty releasing after gripping w/ hands. dx? myotonic muscular dystrophy pt unable to see out of R eye since awakening 2 hrs ago. visual acuity 20/200 in...

25 yo F at 27 weeks w/ severe contractions x6 hours, vaginal spotting, contractions every 2-3 mins w/ FHR 130 and no decels, cervic 1-2 cm and 70% effaced, GBS is positive. next step? - Answer - IM beclamethasone THEN later can give penicillin man w/ 15 yr hx of difficult relaxing hands after tightly gripping objects or shaking hands, difficulty releasing after gripping w/ hands. dx? - Answer - myotonic muscular dystrophy pt unable to see out of R eye since awakening 2 hrs ago. visual acui...

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 ...

Human Genetics Practice Ch 10-14 Exam 154 Questions with Verified Answers The process of copying a gene's DNA sequence into a sequence of RNA is called _____. A) replication B) transcription C) translation D) PCR - CORRECT ANSWER B) transcription RNA contains which nitrogen-containing bases? A) adenine, thymine, guanine, cytosine, uracil B) adenine, thymine, guanine, cytosine C) thymine, guanine, cytosine, uracil D) adenine, guanine, cytosine, uracil - CORRECT ANSWER D) ad...

NBCRNA Exam Questions With 100% Correct Answers 2024 Considerations for the management of a patient with myotonic dystrophy under general anesthesia should include a (an): A. anticholinesterase reversal. B. midazolam premedication. C. short-acting nondepolarizer. D. succinylcholine infusion. - answerC. short-acting nondepolarizer. Which neuromuscular blocking agent is a benzylisoquinoline compound? A. Vecuronium B. Succinylcholine C. Pancuronium D. Mivacurium - answerD. Mivacurium W...

NBME 29 Questions Answered 100% correct AML ALL Pneumonia has what lung findings? increased tactile fremitus bc of the increased consolidation vesicular breath sounds and muffled whispered sounds are normal findings kid comes in with periorbital edema, hypoalbuminemia and proteinuria what is most likely min. change nephrotic Don't use periorbital edema as a main sx for kidney diseases! What will be seen with poststreptococcal glom histo and sx? neutrophil...

Malignant hyperthermia triggers - Succinylcholine Volatile anesthetics Disease associated with malignant hyperthermia - Central core disease Duchenne muscular dystrophy Myotonic dystrophy Osteogenesis imperfecta Myelomeningocele Strabismus Signs/symptoms of malignant hyperthermia (also name the most sensitive, specific and earliest) - 1) Tachycardia (earliest) 2) Increased ETCO2 despite adequate ventilation (most sensitive/specific) 3) Rigidity 4) Elevated temperature 5) Acidosis 6...

25 yr F at 27 weeks w/ severe contractions x6 hours, vaginal spotting, contractions every 2-3 mins w/ FHR 130 and no decels, cervic 1-2 cm and 70% effaced, GBS is positive. next step? - ️️IM beclamethasone THEN later can give penicillin man w/ 15 yr hx of difficult relaxing hands after tightly gripping objects or shaking hands, difficulty releasing after gripping w/ hands. dx? - ️️myotonic muscular dystrophy pt unable to see out of R eye since awakening 2 hrs ago. visual acuity 20/...