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Phenylketonuria
- syndrome with mental retardation (behavioral and cognitive) dur to elevation of serum phenylalanine
- brain is primary organ affect
- autosomal recessive
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Tay-Sachs Disease
- accumation of gangliosides in the brain
- autosomal recessive
- at 6 months will start to miss developmental milestones
- usually die by 5
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Mitochondrial disorders
- genetically inherited or spontaneous DNA mutations
- symptoms vary: muscle coordination, muscle weakness, visual and hearing problems
- want to alleviate current symptoms and slow progression
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Wilsons Disease
- autosomal recessive
- defect in body's ability to metabolize copper, which causes copper to accumulate in the brain, liver, cornea, and kidney
- pt has kayser-fleischer rings
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Metabolic alkalosis
- pH rises ABOVE 7.45
- occurs from: continuous vomitting, ingestion of antacids, diuretic therapy
- S/S: nausea, diarrhea, prolonged vomitting, muscle fasciculations, cramping
- could cause coma, seizures, and respiratory paralysis
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metabloic acidosis
- pH drops BELOW 7.35
- occurs from: renal failure, lactic acidosis, starvation, ketoacidosis, severe diarrhea
- S/S: hyperventilation, vomitting, diarrhea, cardiac arrhythmias
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Osteomalacia
- bones become soft secondary to calcium or phosphorus deficiency
- S/S: aching, fatigue, weight loss, LE bowing, thoracic kyphosis
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Osteoporosis
- decrease in bone mass, increasing risk for fracture
- declining osteoblast function coupled with loss of calcium
- S/S: kyphosis, height decrease, dowagers hump, postural changes
- T-score -1 to -2.5 indicative of osteopenia
- T-score less than -2.5 indicative of osteoporosis
- Risk factors: female, asian or caucasian, insufficient calcium intake, smoking alcohol
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Paget's Disease
- heightened osteoclast activity, however excessive bones lacks true structural integrity
- S/S: bony deformities
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hypothalamus
- regulation of autonomic nervous system (body temp, appetite, sweating, sexual behavior, fear, BP)
- impacts other endocrine galnds based on impact of pituitary gland
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pituitary gland
- located just below hypothalamus
- releases hormones that regulate several other endocrine glands
- secretes endorphins that act on nervous system and reduce person's sensitivity to pain
- creates sex hormones
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thyroid gland
- produces thyroxine and triiodothryonine
- controls rate at which cells burn fuel from food
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parathyroid gland
- produce parathyroid hormone which is an antagonist to calcitonin and maintains normal blood levels of calcium and phosphate
- increases reabsorption of calcium and phosphate from bones to blood
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adrenal glands
- located at top of each kidney (outter part adrenal cortex, inner part adrenal medulla)
- adrenal cortex: produces corticosteroids to regulate water and sodium balance, response to stress, immune system, sexual development
- adrenal medulla: produces epinephrine to increase HR and BP when stress increases
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pancreas
- includes endocrine and exocrine tissues
- upper left quadrant
- islets of langaerhans are hormone producing in pancreas
- ensure consistent level of glucose within bloodstream and properly maintain stores of energy
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ovaries
provide estrogen and progesterone
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testes
secrete androgens (testosterone)
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Hyper/hypo pituitarism
- hypopituitarism: decreased or absent hormonal secretion from anterior pituitary gland causes short stature (dwarfism), delayed growth and puberty, diabetes insipidus
- hyperpituitarism: excessive secretion, gigantism, acromegaly, hirsutism, galactorrhea, amenorrhea, infertility, impotence
- bilateral carpal tunnel, arthritis, osteophyte formation are common with HYPER
- orthostatic hypotension common with HYPO
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Adrenal dysfunction- addison and cushings
- Addison's disease: hypofunction of adrenal cortex causing fluid and electrolyte imbalances, hypotension, weakness, anorexia, weight loss, altered pigmentation
- Cushings syndrome: hyperfunction of adrenal gland causing truncal obesity, purple abdominal striae, moon shaped face, buffalo hump, male gynecomastia
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Thyroid dysfunction- HYPO and HYPER
- hypothryoidism: fatigue, weakness, decreased HR, weight gain, constipation, commonly caused by hashimoto's thyroiditis or underdeveloped thyroid gland
- graves disease (hyperthyroidism): goiter, heat intolerance, nervousness, weight loss, tremor
- after pregnancy HYPERthyroidism first then HYPO
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Parathyroid dysfunction- HYPO and HYPER
- hypoparathryoidism: hypocalcemia, seizures, cognitive defects, short stature, tetany, muscle spasms & pain
- hyperparathyroidism: hypercalcemia, renal stones and kidney damage, bone deformity, muscle wasting
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diabetes type I and II
- Type 1 diabetes: pancrease fails to produce insulin, so insulin dependent, S/S are polyphagia, weight loss, ketoacidosis, polyuria, dehydration,
- Type II diabetes: resistance to insulin action and inadequate insulin secretion, S/S the same but no ketoacidosis- control glucose through diet, exercise, oral meds, and insulin injections
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Glucose levels
- 70-130 prior to meal or <180 after a meal
- hyperglycemia: >180-200, increased thirst & frequent urination, be careful of ketoacidosis in type I (fruity breath)
- hypoglycemia: <70, hunger, sweating, shaking, dizzy, clumsy, headache
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GI system overivew
- Upper GI: mouth, esophagus (transports), stomach (secretes hormones to release digestive enzymes)
- Lower GI small intesting: duodenum (neutralizes acid), jejunum (absorbs water & electrolytes), ileum (absorbs bile)
- Lower GI large intestine: ascending, transverse, descending colon, sigmoid, rectum, anus
- gland organs: gallbladder (store and release bile), liver (produce bile), pancreas (secretes insulin)
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GERD
- incompetent lower esophageal sphincter allowing reflux of gasatric contents
- LEFT sidelying preferred so acid flowing into the esophagus is NOT promoted
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Gastritis
- inflammation of gastric mucosa or inner layer of stomach
- erosive gastritis (acute)
- non-erosive gastritis (chronic)
- peptic ulcer disease: comnonly caused by H pylori infection & chronic NSAID use, bloody stools, burning or heartburn
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Irritable bowel syndrome
- recurrent symptoms of upper and lower GI system interferring with normal function of colon
- abdominal pain, bloating/distention, nausea, vomitting, anorexia
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diverticulitis
- inflamed or infected diverticula, pouch like protrusions in the colon
- tenderness over left side of lower abdomen
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hepatitis
- inflammatory process within the liver
- S/S: fatigue, anorexia, headache, flu symptoms, lighter stool
- if exposed to blood or body fluids of an infected person must receive immunoglobulin therapy immediately
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Cirrhosis of the liver
- healthy tissue of the liver is replaced with scar tissue that blocks the flow of blood through the organ
- usually caused by alcoholism or hep C
- ascites and fluid accumulation int he ankles/feet may occur as well
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Cholecystiti or cholelithiasis
- inflammation of gallbladder, gall stones are cholelithiasis
- severe upper right quadrant pain with muscle guarding, tenderness and rebound pain
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Gastrointestine Management
- antacid agents: neutralize gastri acid and increase intragastric pH
- H2 receptor blocks: bind to histamine receptors to prevent histamine activated release of gastric acid
- proton pump inhibitors: blook secretion of gastric cells into the stomach
- anticholinergics: block effects of acetycholine on parietal cells in the stomach, decrease gastric acid
- emetic agents: induce vomitting
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Quadrant pains
- Left upper: spleen injury, aortic aneurysm, gastric ulcer
- right upper: cholecystitis, hepatitis
- left lower: kidney stone, uretal stone
- right lower: kidney stone, appendicitis, cholecystitis
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Neurogenic bladder
- damage to cerebral control
- frequent UTIs, urine leakage, inability to empty, loss of urge to urinate when full
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different types of urinary incontinence
- stress: activities that increase intrabdominal pressue (sneeze, cough, jump)
- urge: intense urge to void, there have been changes in the smooth muscle of the bladder
- overflow: once the stream is initiated it is weak and has post void dribble
- functional: decrease in mental awareness or mobility preventing person from going to the bathroom in toilet
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Lifestyle modifications for bladder
- fluid intake should be 2,500 mL a day
- void every 3-4 hours
- stop smoking and weight loss program
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Renal failure
- generally occurs secondary to DM or HTN
- decrease in filtration rate and fail to adeautely filten toxins and waste from blood
- stage 1-5 kidney disease (5= kidney failure)
- hemodialysis generally takes 5 hours, potential for dehydration and hypotension post dialysis
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pregnancy
- weight gain between 25-35 pounds
- respiratory diaphragm elevates
- increased oxygen consumption, blood volume and cardiac output
- hypotension in supin beacuse of pressure on inferior vena cava, left side lying will reduce that pressure
- absolute contraindications: restrictive lung disease, incompetent cervix, multiple gestation at risk for prematurity, 2nd or 3rd trimester bleeding, premature labor, ruptured membranes
- exercise at 50-60% max HR for 30 minutes
- after childbirth coccyx and sacrum often become hypermobile
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General S/S of Cancer
- C: change in bowel/bladder
- A: sore that won't heal
- U: unusual bleeding/discharge
- T: thickening/lump develops
- I: indigestion or swallow difficulty
- O: change in wart/mole
- N: nagging cough
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Skin Cancer
- Basal cell carcinoma: slow growing form of skin cancer tha rarely metastasizes
- malignant melanoma: spreads and metastizes quickly to brain, lung, liver, bone, & skin
- asymmetri, borders, color, diameter
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breast cancer
- most common female malignancy
- metastases to: lymph nodes, lungs, bone, skin, brain
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lung cancer
- rapid metastasis: pulmonary vascular system, adrenal gland, brain, bone, liver
- poor prognosis
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pancreatic cancer
metastasize to: liver, lungs, pleura, colon, stomach, spleen
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brain cancer
may occur as primary tumor, but often develops as a metastasis
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lymphoma
- cancer of lymphatic system
- Hodgkins disease: most curable
- non-hodgkins: progression varies
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prostate cancer
adenocarcinoma is most common of prostate cancer
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Leukemia
- cancer of the blood
- will spread to lymph nodes, liver, spleen and other areas
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astrocytoma
50% of pediatric brain tumors
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neuroblastoma
- tumor from primitive ectodermal cells of neural plate that is found in the sympathetic nervous systme
- most common malignant tumor in kids
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treating people undergoing cancer treatment
- verify weight bearing and clearnace for mobility if have bone metastases
- monitor platelet (low counts thrombocytopenia means will bruise easy) and hematocrit/hemoglobin (risk of dizziness) counts, neutrophil (neutropenia is low count and at risk for infection)
- 40-65% peak HR
- don't exceed 12 RPE
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osteogenic sarcoma
- bone cancer in children
- will metastasize quickly
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Fat soluble vitamins
- vitamin A: eyes, epithelial tissue, normal growth and development, reproduction
- vitamin D: increase blood levels of minerals (Ca and phosphorus)
- Vitamin E: antioxidant in cell membrane
- Vitamin K: used for blood clotting
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Water Soluble Vitamins
- Vitamin B12: involved in carbs, protein, and fat metabolism
- B3: regulate energy metabolism
- B6: metabolizes proteins, amino acids, carbs, and fat
- B12: aids in hemoglobin synthesis
- Vitamin C: combats infection and facilitates wound healing
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MInerals
- Calcium: facilitates muscle contraction & relaxation, builds strong bones and teeth, aids in coagulation
- chloride: facilitates the maintenance of fluid and acid-base balance
- magnesium: builds strong bones and teeth, activates enzymes, regulates heartbeat
- phosphorus: strengthens bones, oxidation of fats and carbs
- potassium: fluid and acid-base balance
- sodium: maintenance of acid-base balance
- iron: assists in oxygen transport and cell oxidation
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Acute vs. Chronic Renal Failure
- Acute: sudden decline, increase in BUN & creatinine, secondary to damage....
- chronic: progressive deterioration in renal function, DM< severe HTN, glomerulopathis, obstructive uropathy, interstitial nephritis, polycystic kidney disease
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