Achondroplasia Study guides, Class notes & Summaries

BIOCHEMISTRY USMLE STEP 1 EXAM QUESTIONS WITH CORRECT ANSWERS Achondroplasia involves what defect? -ANS_ Cell-signlaling defect of fibroblast growth factor (FGF) receptor 3 The splicesome exsises introns or exons? -ANS_ Introns What chemotherap agent inhibits thymidylate synthase (therefore decreasing pyrmidine synthesis for DNA)? -ANS_ 5-fluorouracil

start of quiz 1: Parents of a newborn are confused when their child is diagnosed with a genetic disorder because neither of them has a defect. Testing is done and it is determined that both parents are carriers of the disorder even though they are asymptomatic. Understanding the principles of the Mendelian Pattern of Inheritance, the nurse determines what condition is the likely reason for this genetic disorder? X-linked dominant condition Autosomal dominant condition X-linked recessive condi...

Med tecc finalabdominocentesis - correct answer Surgical puncture to remove fluid from abdomen Achondroplasia - correct answer Without cartilage development acromegaly - correct answer Extreme enlargement acrophobia - correct answer Extreme fear of heights Acute - correct answer Rapid Adenoids - correct answer Resembling a gland Adipose - correct answer Pertaining to fat agoraphobia - correct answer Fear of open spaces; market place fear amniocentesis - correct answer sur...

CMMB 403 Midterm 1 Question and answers already passed 2024Describe the RTK signal transduction pathway when activated by the FGF ligand FGF ligand dimerizes RTK receptor. Receptor is phorphorylated and attracts adaptor/GEF. GEF begins phosphorylation cascade: GEF to Ras to Raf to Mek to Erk to TF. TF transcribes gene Describe the JAK-STAT pathway when activated by FGF FGF ligand dimerizes RTK. JAK2 proteins cross-phosphorylate. Both JAK2s phosphorylate a STAT5 (which is a cytoplasmic tyr...

Achondroplasia involves what defect? (Ans- Cell-signaling defect of fibroblast growth factor (FGF) receptor 3 Marfan's syndrome involves a mutation in what? (Ans- Fibrillin gene Nucleoside + phosphate= ? (Ans- Nucleotide Adenine and Guanine are in what type of nucleic acid? (Ans- Purines Cytosine, Uracil and Thyamine arein what kind of nucleic acid? (Ans- Pyrimidines Xanthine, hypoxanthine and uric acid are all what type of base? (Ans- Purine How many hydrogen bond...

HOSA Pathophysiology Question and answer 100% correct 2023Abruptio Placentae - correct answer Premature separation of the placenta from the uterus prior to or during birth Acetylcholine - correct answer Neurotransmitter of the parasympathetic nervous system Achlorhydria - correct answer A condition in which hydrochloric acid is absent in the stomach Achondroplasia - correct answer An autosomal dominant disorder of defective cartilage formation in the fetus Achondroplastic...

Rasmussen MDC1 Exam 2 Questions and Answers Already Graded A What factors affect mobility? Developmental age, nutritional status, lifestyle choices, stress, environment, and diseases. What are some diseases that affect mobility? Rheumatoid arthritis, osteoarthritis, osteoporosis, ankylosing spondylitis, gout, osteoporosis, osteomyelitis, and bone tumors. What is Rheumatoid Arthritis and some clinical manifestations? Most frequent in? It is systemic autoimmune disease causing chronic inflammati...

NBME Sample Questions & Answers-Mitotic cyclin synthesis - G2 phase Vitamin E def anemia - Hemolytic anemia~ red antioxidants vs B12 def (megaloblastic macrocytic anemia) Hemolysis~ dec Hgb/hematocrit, inc LDH (normal MCV), and neurologic symptoms vs B12 def: dec Hgb/hematocrit, inc MCV, and neurologic symptoms (dorsal column) Volume of distribution - Vd = (amount of drug in the body) / (plasma drug concentration) Achondroplasia - Endochondrial ossification dysfunction (inhibit chondr...

sleep, time spent in N2 per night, N1/NREM1, NREM2, NREM3 and 4, REM, physiological changes during NREM1, physiological changes during NREM2, physiological changes during NREM3+4, physiological changes during REM, sleep for newborns, sleep for infants, sleep for toddlers, sleep for school age kids, sleep in teensSTOPBANG questionnaire snoring, tiredness during the day, observed (has anyone seen you stop breathing while asleep), pressure (HTN), BMI, age (>50), neck size (>40cm), gender (ma...

Rasmussen MDC1 Exam 2 Questions and Answers Already Graded A What factors affect mobility? Developmental age, nutritional status, lifestyle choices, stress, environment, and diseases. What are some diseases that affect mobility? Rheumatoid arthritis, osteoarthritis, osteoporosis, ankylosing spondylitis, gout, osteoporosis, osteomyelitis, and bone tumors. What is Rheumatoid Arthritis and some clinical manifestations? Most frequent in? It is systemic autoimmune disease causing chronic...