Achondroplasia - 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...

NBME 30| Questions and Answers, 100% Correct difference b/w Kwashiorkor & Marasmus - kwashiorkor (edematous malnutrition): marasmus PLUS EDEMA - marasmus (WASTING SYNDROME): skin lesions, fatty liver, acute proteinenergy malnutrition with decreased arm circumference, weight per length or BMI deformation disruption in organ morphogenesis occurring AFTER embryonic period; extrinsic force limits normal organ development vascular changes in chronic HTN - hyaline arteriolosclerosis: protein...

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

Hypopituitarism - ANSWER insufficient amount of some or all pituitary hormones panhypopituitarism - ANSWER total pituitary impairment that brings about a progressive and general loss of hormone activity pan - ANSWER all; not seen a lot unless seen with a tumor or autoimmune disorder diseases of hypopituitarism? - ANSWER pituitary dwarfism and diabetes insipidus most common kind of dwarfism that is not a pituitary problem? - ANSWER achondroplasia What causes pituitary dwarfism? - ANSWER to ...

©BRAINBARTER 2024/2025 Principles of Human Heredity Exam 2 Questions With 100% Verified Answers Mode of Inheritance - answerAutosomal recessive Autosomal dominant X-linked dominant X-linked recessive Y-linked Mitochondrial Genotypic ratios persist but phenotypic ratios may vary due to: - answer.Alleles interacting with each other .Genes interacting with other genes and the environment .Non-nuclear genes .Lack of segregation of genes if on the same chromosome Lethal Alleles - answer...

PHRCA Exam (274 Questions) And Answers 100% Verified Which of the following is typically recommended for regular management of children with achondroplasia? A.) Referral to orthopedic surgery for limb lengthening procedure B.) Referral for sleep study C.) Referral to neurosurgery for decompression of the foramen magnum D.) Referral for brainstem auditory evoked responses (BAER) E.) Referral to endocrine for growth hormone therapy - ANS-B.) Referral for sleep study Which of the...

HOSA Pathophysiology Question and answer 100% correct 2024 HOSA Pathophysiology Question and answer 100% solved 2023 Abruptio 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...

Hypopituitarism - insufficient amount of some or all pituitary hormones panhypopituitarism - total pituitary impairment that brings about a progressive and general loss of hormone activity pan - all; not seen a lot unless seen with a tumor or autoimmune disorder diseases of hypopituitarism? - pituitary dwarfism and diabetes insipidus most common kind of dwarfism that is not a pituitary problem? - achondroplasia What causes pituitary dwarfism? - to little growth hormone pituitary dwarfs a...

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...

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...