Angelman syndrome Study guides, Class notes & Summaries

HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024 Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - 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 - ANSWER protein gluten is not properly broken down cystic ...

Genetic Counseling Boards Review Questions and Answers (summer 2023/24). - A young patient (5yrs) presents for the first time to a new dentist with crowded teeth, making them very hard to clean. In further exploration of the issue, she learns that the child had delayed eruption of his teeth. The patient's mother also relays that her pediatrician has several times noted how prominent the veins of his scalp are and his short stature. However, she thinks that this is just part of the spectrum ...

HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024 Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - 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 - ANSWER protein gluten is not properly broken down cystic ...

HOSA Pathophysiology Exams Questions and Answers (2023) (Verified Answers) 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 A...

Fitz-Hugh-Curtis syndrome - Answer- Perihepatic infection which results in liver capsule (aka Glisson's capsule) inflammation from pelvic infections such as gonorrhea & chlamydia Rocephin - Answer- Ceftriaxone 125mg Koilocytosis - Answer- Nuclear enlargement with atypical peri nuclear halo Cefixime - Answer- Fixime 400mg Fixime 400mg - Answer- Cefixime U wave represents - Answer- repolarization of the purkinje fibers. Seen in 1) Hypokalaemia. 2) Hypercalcaemia. 3) Thyrotoxicosis....

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...

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...

-----------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...

NR507 Midterm Test Questions with Complete Solutions What is epigenetics? - ANSWER The study of heritable changes in gene expression or phenotype casued by mechanisms *other* than changes in DNA sequences. DNA methylation - ANSWER The attachment of a methyl group to a cytosine base is followed by a guanine base...causes a gene to become transcriptionally inactive or silent. Epigenetic processes play a major role in cancer initiation, progression, and treatmen...

HOSA Pathophysiology ANSWERED CORRECTLY 2023//2024 Angelman syndrome - ANSWER Deletion of normally active maternal allele. Mental retardation, seizures, ataxia, inappropriate laughter ("happy puppet") Canavan disease - 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 - ANSWER protein gluten is not properly broken down cystic ...