NSG 533 Advanced Pathophysiology Exam 2 Questions With Complete Verified 100% Solutions LATEST UPDATE 2023

NSG 533 Advanced Pathophysiology Exam 2 Questions With Complete Verified 100% Solutions LATEST UPDATE 2023 Sex-linked traits Traits that are inherited with sex chromosomes Autosomal traits Traits that are inherited with non-sex chromosomes X-linked recessive disorders Genetic variants on the X chromosome; more common in males. Both copies of the gene must be altered in female, but only one copy must be altered in males. Ex: colorblindness. X-linked dominant disorders Genetic variants on the X chromosome. Only one altered copy of the gene is needed to cause the condition in both males and females. Very rare. Autosomal dominant disorders Caused by variants in genes found on non-sex chromosomes. Only one altered copy of the gene is needed to cause an effect. Ex: Huntington dx. Autosomal recessive disorders Caused by variants in genes found on non-sex chromosomes. Both copies of the gene must be altered to cause an effect. Ex: cystic fibrosis. Lack of variability in a species may lead to more ________ . autosomal recessive disorders Define heterozygote advantage An individual with one mutated copy of a gene and one normal copy may have advantages against certain pathogens without suffering from symptoms of the disease. Explains why certain diseases stay prevalent over history in geographical regions or cultures. Give two examples of the heterozygote advantage Tay-Sachs heterozygote advantage against tuberculosis, and Sickle Cell heterozygote advantage against malaria. Mutations in the tumor suppressor gene BRCA 1 and 2 may lead to _____ . breast and ovarian cancers Inactivation of tumor suppressor gene APC may result in ______ . colorectal cancers How do mutations in the retinoblastoma (Rb) gene lead to cancer? Rb monitors antigrowth cellular signals (like contact with other cells) and blocks activation of the growth/division phase in the cell cycle. Mutations lead to perisistant growth. Genotype The unique sequence of DNA Phenotype The detectable expression of the genotype, or clinical presentation Penetrance The proportion of individuals with a disorder-causing mutation who actually exhibit clinical symptoms. Ex: Huntington dx is autosomal dominant, and therefore has a 100% penetrance. Cosanguinity Genetic relatedness between individuals descended from at least one common ancestor. Cosanguineous relationships result in decreased variability of a population. Anticipation A tendency of certain genetic disorders to present earlier in life and more severely as they are passed down in generations. Ex: grandchild is severely affected in infancy while the grandparent was only mildly affected in adulthood. CRISPR-Cas-9 gene editing DNA "scissors" that can be used to delete and insert segments of DNA, potentially curing genetic disorders. Many ethical implications. Signs and symptoms of acute viral hepatitis Fever, fatigue, loss of appetite, nausea/vomiting, abdominal pain, dark urine, claycolored stools, joint pain, jaundice, elevated AST/ALT Transmission of Hepatitis A Fecal-oral route, 28-day incubation period, soley an acute illness with supportive treatment. Transmission of Hepatitis B Via mucosal contact with infected blood or body fluid, typically sexual activity, IV drug use and hemodialysis Transmission of Hepatitis C Blood and body fluids, typically through IV drug use, hemodialysis, nasal cocaine, transfusions, perinatal, unregulated tattoos, and (uncommonly) sexual activity. Transmission of Hepatitis D Requires an associated HBV infection for transmission. Commonly IV drug use. To be diagnosed with chronic viral hepatitis, the virus must have been present for at least _____ . six months Signs and symptoms of chronic hepatitis B Hepatosplenomegaly, spidere telangiectasis (vascular abnormality), jaundice, ascites, and peripheral edema. What are the established risk factors for NAFLD? Obesity, metabolic syndrome, genetic risks, and family histry. What are the emerging risk factors associated with NAFLD? PCOS, hypothyroidism, OSA, hypopituitarism, hypogonadism, pancreato-duodenal resection List common causes of NAFLD Hepatitis C, Wilson's disease, lipodystrophy, TPN, medications (amiodarone, methotrexate, tamoxifen, steroids), Reye's syndrome, acute fatty liver of pregnancy, HELLP syndrome, malnutrition What are the most common clinical manifestations of NAFLD? Elevated LFTs, fatigue, pain in the RUQ, central obesity, hepatomegaly, acanthosis nigricans, and presence of dorsocerviccal hump. What are the s/s of decompensated cirrhosis? Ascites, icterus, nail changes, splenomegaly, asterixis, variceal bleeding, and hepatic encephalopathy. Labs: platelets < 150,000, elevated INR, and low albumin.