Angelman syndrome - Study guides, Revision notes & Summaries

HOSA Pathophysiology exam guide version 2023 with all updates Angelman syndrome - - Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - - autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - - protein gluten is not properly broken down cystic fibros...

MCMB Test Questions with Correct Answers Angelman Syndrome - Answer-15q maternal deletion (UBE3A) Carrier mother may give to either gender kid Carrier father will not give to either kid (daughter may carry) Prader Willi - Answer-15q paternal deletion (SNORD) NIPS - Answer-after 7 wks common autosomal and sex aneuploidies CVS - Answer-10-13 wks Same as amniocentesis results Amniocentesis - Answer-16-20 wks Alpha-fetoprotein chromosome and genome analysis Preimplantation ...

Angelman syndrome - CORRECT ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - CORRECT ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - CORRECT ANSWER protein gluten is not properly broken down cystic fibrosis - CORRECT ANSWER Hered...

-----------WEEK 9------ A client presents to clinic for the first time. The provider discovers that the client was diagnosed with prader-willi syndrome. What symptoms does the provider expect to find during this encounter? >>Hyperphagia, obesity, and strabismus Lethargy and stridor and irritability Low-set ears, short stature, webbed neck Flat nasal bridge, epicanthal folds and heart murmur Prader-Willi Syndrome 1) Caused by a lack of genetic material in the 15 pair of c...

Angelman syndrome - CORRECT ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - CORRECT ANSWER autosomal recessive, chromosome 17 enzyme aspartoacylase hypotonia, poor head control, GE reflux of poor weight gain, demyelination, progressive leukodstrophy, and death in 1st decade coeliac disease - CORRECT ANSWER protein gluten is not properly broken down cystic fibrosis - CORRECT ANSWER Hered...

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 ...

Cerebellar ataxia, telangiectasias, and increased risk of sinopulmonary infections = triad of _________. -This is due to a defect in the ________gene responsible for ____________. -immune deficiency manifests as _______ - ***ataxia telangiectasia ATM gene responsible for DNA break repair IgA deficiency Pt presents with unsteady gait, spider like capillary angiomas on the skin, and recent pulmonary infections...Dx= - ***Ataxia Telangiectasia Pt presents with Thrombocytopenia, Eczema, an...

1. Question: A 10 year old male is stung by a bee while playing in the yard. He experiences a severe allergic reaction and has to go to the ER. The nurse providing care realizes this reaction is the result of: 2. Question: Chronic bronchitis is characterized by: 3. Question: A 6 year old female is ... with a bacterial infection of the respiratory system. Which of the following will most likely try to fight the antigen? 4. Question: A 52 year old male is ... with urinary tract obstruction. Whi...

NR 507 ADVANCED PATHOPHYSIOLOGY MIDTERM EXAM QUESTIONS AND COMPLETE WELL EXPLAINED ANSWERS WITH RATIONALES 100% CORRECT AND VERIFIED BY EXPERTS GRADED A+ LATEST UPDATE 2024 (SUCCESS GUARANTEED]ALL YOU NEED TO PASS YOUR EXAMS What is epigenetics? The study of heritable changes in gene expression or phenotype casued by mechanisms *other* than changes in DNA sequences. DNA methylation The attachment of a methyl group to a cytosine base is followed by a guanine base...causes a gene to become t...

CLTM Epilepsy disordersAngelman Syndrome SZ onset - correct answer 1-3 years Angelman Syndrome SZ type - correct answer all; myoclonic and absence most common Angelman Syndrome treatments - correct answer difficult to control with AEDs, ketogenic diet and VNS can be tried ADNFLE - correct answer Autosomal Dominant Nocturnal Frontal Lobe Epilepsy ADNFLE sz onset - correct answer between 1-60 years, most often before 20 yrs ADNFLE sz type - correct answer frequent, brief, hypermotor...