Dystrophin - Study guides, Class notes & Summaries

Module 12-13: Genetic & Congenital Pathologies and Reproductive System Pathologies Study Guide 2024 1 / 14 1. Achondroplasia "Autosomal dominant - FGFR3 mutation - Impaired endochondral ossification & membranous ossification - Disproportionate dwarfism Dx: Genetic testing, hormone lvls, x-rays Tx: none 2. Duchenne Muscular Dystrophy "X-linked recessive" - mutation of the dystrophin gene - progressive muscle weakness - Onset @ 5 yrs S/S: - Early signs: weakness of shoulders & p...

Muscle Pathophysiology Question and answers rated A+ 2023/2024Duchenne Muscular Dystrophy - correct answer -Greatly reduced dystrophin (<3% of normal) -Most frequent hereditary muscle disease: 1 in 3500 male births -X chromosome linked recessive -Boys are affected -Girls are more likely carriers of mutated genes -Severe and progressive degeneration of muscles Becker Muscular Dystrophy - correct answer -Decreased amount of dystrophin (20-80% of normal) -X chromosome linked reces...

What organs contain a serous membrane? Heart, lungs, intestinal tract The visceral layer of the glomerular serous membrane ♣ Is composed of simple squamous mesothelium, like other visceral serous membranes we have studied ♣ Contains a very thick basement membrane fused with the endothelial membrane of glomerular capillaries ♣ Reminded Dr. Hines of a snowy fir tree What epithelium are serous membranes normally composed of? simple squamous Negative pressure is created in the pleural space...

AP Biology Unit 5 Questions and Answers Already Passed ) Between which two genes would you expect the highest frequency of recombination? A) A and W B) W and E C) E and G D) A and E E) A and G Answer: E 10) Cinnabar eyes is a sex-linked recessive characteristic in fruit flies. If a female having cinnabar eyes is crossed with a wild-type male, what percentage of the F1 males will have cinnabar eyes? A) 0% B) 25% C) 50% D) 75% E) 100% Answer: E 13) Sex determination in mammal...

USMLE Step 1 Rapid Review 2024 Questions and Answers 100% Pass abdominal pain, ascites, hepatomegaly - Correct Answer ️️ -Budd-Chiari syndrome Familial hypercholesterolemia - Correct Answer ️️ -achilles tendon xanthoma adrenal hemorrhage, hypotension, DIC - Correct Answer ️️ -Waterhouse-Friderichsen syndrome biochemistry of Marfan's syndrome - Correct Answer ️️ -fibrillin defect posthepatic venous thrombosis - Correct Answer ️️ -Budd-Chiari syndrome Familial hypercho...

BIO 201 Exam 3 Complete Answers A skeletal muscle never contracts unless stimulated be a ________________? Nerve. Aerobic respiration produces ______ ATP molecules per glucose. 36. All muscle contraction depends on what? ATP. Are fassicles visible to the naked eye, and if so what do they look like? Yes fassicles are visible to the naked eye, and they appear as parallel strands. As the phosphagen system is exhausted what happens? Muscles shift to anaerobic fermentation. ATP depends ...

GMS 6474 Exam Questions and Answers 100% Correct Lecture 2 Muscles can either be ____ or ____? - Answer- 1. Voluntary 2. Involuntary What is one question to ask when comparing voluntary to involuntary muscles? - Answer- How is the underlying tissue metabolized? Cardiac functional syncytial vs smooth muscle functional syncytial? - Answer- Cardiac - pacemaker cells cause contractions Smooth - vasodilation/vasoconstriction True/False: Smooth muscle has striations? - Answer- FALSE! what tw...

what does the SR store - proteins and calcium what is the role of the transverse tubules in the muscle fiber - allow inside of muscle to communicate with the outside of the muscle how is a sarcomere measured - from z-disc to z-disc what is contained in the I band of the sarcomere & what color is the band - thin filaments titin z-disc light (isotropic) what is contained in the A band of the sarcomere & what color is the band - thick filaments thin filaments dark (scatters lig...

USMLE Step 1 Rapid Review Graded A+ abdominal pain, ascites, hepatomegaly ️Budd-Chiari syndrome Familial hypercholesterolemia ️achilles tendon xanthoma adrenal hemorrhage, hypotension, DIC ️Waterhouse-Friderichsen syndrome biochemistry of Marfan's syndrome ️fibrillin defect posthepatic venous thrombosis ️Budd-Chiari syndrome Familial hypercholesterolemia biochemistry ️decrease in LDL receptor signaling Waterhouse-Friderichsen syndrome cause ️meningococcemia arachno...

1. A mother brings her 8 mo. old baby boy to clinic bc he has been vomiting and had diarrhea for last 3 days. Which assessment is most important for nurse to make? a. Assess infant abdomen for tenderness b. Determine if the infant was exposed to a virus c. Measure the infant’s pulse d. Evaluate the infant’s cry 2. While obtaining the vital signs of a 10-year-old who had a tonsillectomy this morning, the nurse observes the child swallowing every 2-3 minutes. Which assessment should the ...