Exam (elaborations) NSG 533

types of chromosomal mutations (5) - ANSWER 1. deletion 2. duplication 3. inversion 4. substitution 5. translocation deletion - ANSWER type of chromosomal mutation in which there is an absence of a segment of DNA (single base or entire gene) duplication - ANSWER type of chromosomal mutation in which there is a presence of an extra segment of DNA (redundant copies) inversion - ANSWER type of chromosomal mutation in which a segment of chromosome is inverted and reinserted in the chromosome at the breakage site What is the physiologic response to hypoglycemia? - ANSWER release of counterregualtory hormones: glucagon, epinephrine, cortisol, growth hormone, activation of sympathetic nervous system suppression of insulin secretion release of cortisol and growth hormone What is considered hypoglycemia in new born and adult? - ANSWER serum glucose 30 in newborn and 55-60 in adult What is Diabetic keto acidosis? - ANSWER serious complication related to a deficiency of insulin. Fat is then broken down for energy and ketones enter the blood and build up Predisposing risk factors for DKA? - ANSWER more common DM I stress: infections, trauma, accidents, emotional stress surgery MI poor insulin compliance Omission of insulin medications that antagonize insulin Who is at risk for myxedema coma? - ANSWER older adults with moderate or untreated hypothyroidism and pulmonary/urinary infections, CHF, or CVA individual with hypothyroidism as a result of use of sedatives or narcotics hypothyroidism after an acute illness What constitutes a medical emergency with myxedema coma? - ANSWER decreased LOC, hypothermia without shivering, hypoventilation, hypotension, hypoglycemia, lactic acidosis, coma What is hyperthyroidism? - ANSWER Overproduction of the thyroid hormone What can cause hyperthyroidism? - ANSWER Graves disease Toxic Multinodular goiter solitary toxic adenoma follicular thyroid carcinoma What happens in graves disease and who does it most commonly effect? - ANSWER most common form (4/5 cases) usually affect women aged 20-40 years Causes exophthalmos Complications of hyperthyroidism - ANSWER Thyrotoxic crisis (thyroid storm) What happens in thyrotoxic crisis (thyroid storm?) - ANSWER This happens the thyroid gland releases a large amount of thyroid hormone in a short amount of time can occur within 48 hours patient with thyrotoxicosis who undergo significant stress it is a MEDICAL EMERGENCY Symptoms of thyroid storm - ANSWER hyperthermia (105f or higher), tachycardia, high-output HF, agitation or delirium, N/V/D, coma, hypotension fluid volume depletion How to treat thyroid storm? - ANSWER Medications such as propylthiouracil or methimazole), beta-blockers, corticosteroids, iodine and supportive care Plasma exchange or thyroidectomy may be used when all else fails Clinical manifestations of hyperthyroidism - ANSWER thin hair exopthalamos enlarged thyroid (warm on palpation, nodular, solitary) heart failure diarrhea warm skin, sweaty palms hyperreflexia periorbital edema laboratory findings for hypothyroidism - ANSWER TSH: high/increased (0.5-5.0 normal) t4: low/decreased 5-12 T3: low/decreased 60-180 nanogram laboratory findings for hyperthyroidism - ANSWER TSH: low/decreased (0.5-5.0 normal) t4: high/increaesd (normal 5-12) balanced inversion - ANSWER no net loss/gain of genetic chromosomal material (no phenotypic abnormalities) unbalanced inversion - ANSWER loss/gain of chromosomal material (will see abnormal phenotype) substitution - ANSWER type of chromosomal mutation in which there is an exchange of one base for another translocation - ANSWER type of chromosomal mutation in which a segment or whole chromosome becomes attached with another chromosome balanced translocation - ANSWER no net gain/loss of genetic material (no phenotypic abnormalities) unbalanced translocation - ANSWER gain/loss of genetic material (does show phenotypic abnormality) penetrance - ANSWER proportion of individuals with a mutation who actually exhibit the clinical symptoms (often autosomal dominant) how to diagnose advanced fibrosis - ANSWER - FIB4, APRI - Fibroscan - MR elastography - Liver biopsy what is a serologic marker you can start with for fibrosis? - ANSWER NAFLD Fibrosis Score progression of NAFLD - ANSWER steatosis (NAFL) (ballooning; swiss cheese) Steatohepatitis (NASH) (purple inflammatory cells) fibrosis (blue chicken wire = scarring) cirrhosis HCC what percent of the population has NAFLD? - ANSWER 25-35%; very few progress past this stage what percent of the population has NASH? - ANSWER 3-5% what is the most common liver abnormality in children ages 2-19? - ANSWER NASH (kids frequently born with liver disease) correlation between obesity and NAFLD - ANSWER as obesity increases (visceral fat), NAFLD increases role of adipose tissue in development of dyslipidemia of obesity, T2DM, NAFLD - ANSWER develops insulin resistance four conditions that are established risk factors for NAFLD - ANSWER 1. obesity 2. type 2 diabetes 3. dyslipidemia 4. metabolic syndrome criteria for metabolic syndrome - ANSWER at least three features: - waist circumference (men 102cm, women 88cm) - triglyc level 150 - HDL cholesterol 40 in men, 50 in women - SBP 130 or DBP 85 - fasting BG 110 genes associated with NAFLD - ANSWER PNPLA3 TM6SF2 GCKR SOD2 MBOAT treatment for NASH - ANSWER - weight loss of 10% (fibrosis regresses) - Pioglitazone (given for biopsy confirmed NASH; lowers BG) - Vitamin E (dec oxidative stress) secondary causes of hepatic steatosis - ANSWER 1. Macrovesicular steatosis 2. microvesicular steatosis macrovesicular secondary causes of hepatic steatosis to rule out - ANSWER - excess alc consumption - hep C - wilson's disease - medications microvesicular secondary causes to hepatic steatosis to rule out - ANSWER - reye's syndrome - medications (valproate) - acute fatty liver of pregnancy - HELLP syndrome nonpharmacologic approaches for NASH - ANSWER weight loss exercise bariatric surgery what is the birth cohort screening for HCV? - ANSWER anyone born between should receive a one-time HCV screening test done d/t normal lifestyle at the time (increased sexual behaviors, inc drug use, etc) can HDV infect on its own? - ANSWER no; requires and HBV infection transmission of HDV - ANSWER infected blood (IV drug use) what is co-infection? - ANSWER when you get Hep B and Hep D at the same time what is Superinfection? - ANSWER when someone has Chronic Hep B, then develops Acute Hep D most lead to chronic HBV; can also lead to fulminant hepatitis incubation of Acute HDV - ANSWER 3-7 weeks diagnosis of HDV - ANSWER - Antibody IgM - Antibody IgG - quantitative PCR testing first line treatment for pediatric NAFLD - ANSWER intense lifestyle modification explain the effect of obesity on diabetes type II - ANSWER - adipokines (specifically inc levels of leptin) result in inflammation - increased free fatty acids lead to decreased tissue responses to insulin - hyperinsulinemia - decreased levels of ghrelin what conditions are detected on newborn screening? - ANSWER - congenital adrenal hyperplasia - congenital hypothyroidism - CF - maple syrup urine disease - PKU - sickle cell disease two types of predictive testing - ANSWER 1. presymptomatic testing