In pompe disease - Study guides, Class notes & Summaries

BIOCHEM NBME EXAM GRADED A+ Hypercholesterolemia Autosomal dominant - mutation of the LDL receptor Marfan Syndrome autosomal dominant; mutation in the fibrillin that holds in the elastin; tall, weak heart Huntington's disease Autosomal dominant; CAG repeats in the huntingtin gene; huntingtin is involved in kinesin, dynein trafficing; characterized by uncontrollable body movements and degeneration of the nervous system; usually fatal 10 to 20 years after the onset of symptoms. Achondrop...

21 yo female college student acne x 4 days concerned about appearance because wedding in 3 weeks Obj - acute acne over face with predominance of comedones and pustules Initial step in tx? ---------- Correct Answer --------- Topical retinoic acid Acne vulgaris: Usually a self-limited disorder of teenagers and young adults. Comedones (small cyst formed in hair follicle) are clinical hallmark; often accompanied by inflammatory lesions of Papules, Pustules, or Nodules. May scar in severe ca...

ARDMS Echo RDCS Board Registry practice Test 200 Questions with Verified Answers Which is the following is the typical treatment for advanced pericarditis? a. thoracentesis b. stent placement c. heart transplant d. pericardectomy - CORRECT ANSWER d When recording flow velocity on the LVOT, the: a. PW Doppler cursor should be placed distal to the aortic valve closure b. CW doppler should be placed parallel to the aortic valve closure c. CW doppler should be placed perpendicular to ...

TEST BANK FOR Pharmacotherapeutics for Advanced Practice Nurse Prescribers Fifth Edition Test Bank ISBN 2023/2024 Absolute polycythemia - ANSWER excessive red blood cell production; a physiologic response resulting from increased erythropoietin secretion in response to chronic hypoxia or as a symptom of polycythemia vera. Absorption atelectasis - ANSWER see Atelectasis. Acid maltase deficiency (glycogen storage disease type II or Pompe disease) - ANSWER an autosomal recessive metab...

NBME CBSE STUDY GUIDE/ TEST BANK Type II pneumocytes surfactant (lecithin) Proliferate after injury Type I progenitors Neonatal Respiratory Distress Syndrome Polio live v killed vaccine Killed = Salk = IgG Live = Sabin = IgG + IgA - can be shed in feces Neonatal Respiratory Distress: Etiology + Tx Maternal DM (high insulin) or C-section (low cortisol) TX: dexamethasone before birth Lung maturity determined with Amniocentesis of Phospholipids (*type II pneumocytes) L >&g...

USMLE STEP 1 Exam with Complete Solutions 2023 2-year-old boy. Blood in wet diaper. abdominal mass in the right flank. CT revelers a large tumor in the right kidney. deletion in chromosome 11. - CORRECT ANSWER Wilms tumor: Deficiency of Phobilinogen deaminsde aka (Uroporphyrinogen) causing acute intermittent prophyria (AIP) 6-year old boy. worsening ataxic gait and a cardiac dysrhythmia. Uncle also has this condition. what is causing this? unstable protein folding unstable protei...

Nelson Pediatrics Review(MCQs) 19 Edition 1. Which of the following statements regarding foster care is true? □A permanency plan must be made for a child in foster care no later than 12 mo from the child's entry into care □A minority of children in foster care have a history of abuse or neglect □The mission of foster care is to safely care for children while providing services to families to promote reunification □Most (>70%) of children in foster care are reunited with their fa...

Alkaptonuria - ANSWER-Absence of homogentisate oxidase - arthritis - discolored sclerae and other areas (ear cartilage) - Dark urine - spinal disc degeneration and dense calcifications possible What is the cause of "bitter almond" breath? - ANSWER-Cyanide poisoning What does cyanide inhibit? - ANSWER-Cytocrhome oxidase in the ETC What is the treatment for cyanide poisoning? - ANSWER-Amyl nitrate (oxidizes hemoglobin to methemoglobin, which strongly binds cyanide) 6 month old ...

ARDMS Echo RDCS Board Registry practice Test 200 Questions with Verified Answers Which is the following is the typical treatment for advanced pericarditis? a. thoracentesis b. stent placement c. heart transplant d. pericardectomy - CORRECT ANSWER d When recording flow velocity on the LVOT, the: a. PW Doppler cursor should be placed distal to the aortic valve closure b. CW doppler should be placed parallel to the aortic valve closure c. CW doppler should be placed perpendicular to ...

The peak velocity of aortic regurgitation indicates the maximum pressure gradient between: the aorta and the LV in systole the aorta and the LV in diastole the LV and the LA in diastole the LV and the LA in diastole - ANSWER-the aorta and the LV in diastole Which type of image resolution improves with proper placement of the focal zone at the area of interest? temporal lateral contrast elevational - ANSWER-Lateral The tissue of the interventricular septum will be best v...