COMMON LEARNING ISSUES PBL TEST 1 2012 ALPHA FETOPROTEIN USED AS A SCREENING MARKER INDICATING INCREASED RISK FOR BIRTH DEFECTS (NEURAL TUBE, BODY WALL, AND CHROMOSOMAL) PRODUCED BY FETAL LIVER AND YOLK SAC IF THERE IS A BODY WALL DEFECT THE AFP WILL LEAK INTO AMNIOTIC FLUID AND IS PICKED UP BY MATERNAL SERUM ALSO ASSOCIATED WITH TUMOR MARKERS, HEPATOMA, TERATOMA, HODGKINS, LYMPHOMA, AND RENAL CELL CARCINOMA ALPHA-FETOPROTEIN NORMAL FINDINGS < 40 ng/mL • • • Child < 30 ng/mL Ranges vary by week of gestation normally detected at 10 weeks Peak levels at 16-18 weeks DECREASED LEVELS: • • TRISOMY 21 FETAL WASTAGE INCREASED LEVELS: • • • • • NTD, ABDOMINAL WALL DEFECTS MULTIPLE FETUSES THREATENED ABORTION FETAL DISTRESS OF CONGENITAL ANOMALIES FETAL DEATH ANTINUCLEAR ANTIBODY (ANA) Used to diagnose systemic lupus erthematosus (SLE) and other autoimmune disease ANA is a group of protein antibodies that react against cellular nuclear material Normal findings negative at 1:40 dilution ARTERIAL BLOOD GASES Monitor patients on ventilators, monitor critically ill nonventilator patients, establish preoperative baseline parameters, and regulate electrolyte therapy pH –log[H+] • Acids normally found in blood: carbonic, dietary, lactic and ketoacids • Elevated indicates alkalosis • Decreased indicates acidosis BLOOD GASES PCO2 • • • • • Measure of partial pressure of carbon dioxide in the blood Measure of ventilation 10% free floating in plasma, 90% carried by RBCs Respiratory component of acid-base determination Co2 and pH are inversely proportional BLOOD GASES HCO3- or CO2 content • • • • Measure of the metabolic component of the acid-base equilibrium Regulated by the kidney Directly proportional to pH In alkalosis kidneys excrete more into the urine to lower pH PO2 • • • • Pressure of oxygen dissolved in plasma Indirect measure of O2 content Determines effectiveness of oxygen therapy Determines the force of oxygen to diffuse across the pulmonary alveoli membrane BLOOD GASES Oxygen saturation • Percentage of hemoglobin saturated with oxygen • As PO2 decreases so does saturation of hemoglobin Oxygen content • The amount of oxygen in the blood • Nearly all of it is bound to hemoglobin Base excess/deficit • • • • Amount of anions in the blood, bicarbonate being the largest Also hemoglobin, proteins, phosphates Negative base excess indicates acidosis, positive alkalosis BLOOD GASES Alveolar to arterial oxygen difference • If gradient is abnormally high there is a problem in diffusing oxygen across the alveolar membrane (thickened or edematous) or unoxygenated blood is mixing with oxygenated • Thick walls due to edema, fibrosis, and RDS • Mixing occurs with septal defects, shunts or underventilated alveoli still being perfused KAROTYPE Study an individual’s chromosome makeup to determine chromosomal defects associated with disease or risk for developing disease Congenital or acquired because of duplication, deletion, translocation, reciprocation, or genetic rearrangement Performed by a banding technique, pairing similar chromosomes based on size, location of centromere, banding patterns Congenital anomalies, growth and mental retardation, infertility, delayed puberty, hypogonadism, amenorrhea, ambiguous genitalia, CML, neoplasm recurrent miscarriage, turner, klinefelter, downs CBC Measures RBC Hemoglobin Hematocrit RBC Indices WBC count Blood smear Platelet count Mean platelet volume CBC Mean corpuscular volume ( MCV) • • • • Average volume or size of a single RBC Divide hematocrit by total RBC count Large: folic acid or B12 deficiency Small: iron deficient anemia or thalassemia RBC • # circulating RBC • Normal life span 120 days • Lysed and extracted from circulation by spleen CBC Mean corpuscular hemoglobin • Measure of average weight of hemoglobin within RBC Mean corpuscular hemoglobin concentration • Average concentration or % of hemoglobin within RBC RBC distribution width • Indicates variation of size of RBC • Important in classifying anemias CBC Blood smear • Information concerning drugs and diseases that affect RBCs and WBCs • Examines RBC, platelet, and WBC White count • Neutrophils, basophils, eosinophils, monocytes, lymphocytes CBC Platelet count • • • • Number of platelets formed in bone marrow of megakaryocytes Adult/child 150,000-400,000 Newborn/ premature infant: 100,000-300,000 Infant 200,000-475,000 Mean platelet volume • Measure volume of large number of platelets to evaluate platelet disorders especially thrombocytopenia CREATININE, BLOOD . Normal Findings: A. Elderly: Decrease in muscle mass may cause decreased values B. Adult: Male: 0.6-1.2 mg/dL C. Adolescent: 0.5-1.0 mg/dL D. Child: 0.3-0.7 mg/dL E. Infant: 0.2-0.4 mg/dL F. Newborn: 0.3-1.2 mg/dL ---creatinine clearance Female: 0.5-1.1 mg/dL 1. used to measure the GFR of the kidneys 2. Normal Findings: A. Adult (<40 yrs): Male: 107-139 mL/min B. Values decrease 6.5 mL/min/decade of life after age 20 yrs with decline in GFR C. Newborn: 40-65 mL/min Female: 87:107 mL/min CREATININE Catabolic product of creatine phsophate used in skeletal muscle contraction, depends on muscle mass Excreted by kidneys and is directely proportional to renal excretory function; serum levels should be constant Used to diagnose impaired renal function Unlike BUN it is minimally affected by hepatic function Approximation of GFR Suggest chronic disease CREATININE In chronically unstable patients acute changes in renal function can make real time evaluation of GFR difficult Cystatin C may be used for chronic kidney disease Clearance: amount of filtrate made • Amount of blood to be filtered and ability of glomeruli to filter ERYTHROCYTE SEDIMENTATION RATE no-n-specific test used to detect illnesses associated with acute and chronic infection, inflammation, advanced neoplasm, and tissue necrosis or infarction Measure rate at which RBC settle in saline solution or plasma per unity time RBC will settle faster with illness Male up to 15 mm/hr Female up to 20 mm/hr Child up to 10 mm/hr New born 0-2 mm/hr ESTROGEN FRACTION Estradiol Serum (pg/mL) Urine mcg/ 24 hr Child <10 <15 0-6 Adult male 10-50 0-6 Follicular phase 25-350 0-13 Midcycle peak 150-750 4-14 Luteal phase 30-450 4-10 postmenopausal <20 0-4 Adult female ESTROGEN FRACTION estriol Serum (ng/mL) Urine mcg/ 24 hr Male, child, postmenopausal 1-11 Follicular phase 0-14 Ovulatory phase 13-54 Luteal phase 8-60 1st trimester <38 0-800 2nd trimester 38-140 800-12,000 3rd trimester 31-460 5000-12,000 ESTROGEN FRACTION Total estrogen serum Urine mcg/ 24hr Male or child 4-25 Female not pregnant 4-60 1st trimester 0-800 2nd trimester 800-5000 3rd trimester 5000-50,000 ESTROGEN FRACTION Evaluate sexual maturity, menstrual problems, and fertility problems Evaluate males with gynecomastia or feminization In pregnancy it indicates feto-placental health or tumor marker FSH and LH stimulate ovaries to make estradiol (E2) • Peaks during ovulatory phase of menstrual cycle • Menopausal status, sexual maturity, fertility problems, gynecomastia, feminization syndromes, and tumor mark for ovarian tumors ESTROGEN FRACTION E1 or estrone is major circulator after menopause E3 (estriol) major estrogen in pregnant female assess placental function and fetal normality, produced by placenta from estrogen precursors rising values are good declining values mean fetoplacental deterioration, preeclampsia/eclampsia, diabetes mellitus, anencephaly, death, dysmaturity Increased levels liver necrosis, adrenal tumor, hepatic cirrhosis, hyperthyroidism Decreased: turners, failing pregnancy, hypothryoidism or pituitarism, steinleventhal syndrome, menopause, anorexia nervosa MATERNAL SCREEN TESTING Potential birth defects or serious chromosomal/genetic abnormalities Women over 35 for downs, NTD, or abdominal wall defects Double test hCG and AFP Triple AFP, hCG, and estriol Quadruple AFP, hCG, inhibin A, and estriol With trisomy 21 AFP levels are 25% lower than normal hCG 2x higher Inhibin A just like hCG PARTIAL THROMBOPLASTIN TIME (PTT) Assess the intrinsic system and common pathway of clot formation and to monitor heparin therapy First phase of reactions is intrinsic system: factor XII forms complex on subendothelial collagen Extrinsic factors include thromboplastin Prothrombin becomes thrombin converts fibrinogen to fibrin Plasmin degenerates Evaluates fibrinogen II (prothrombin, V, VIII, IX, X, XI, and XII If any of these exist in inadequate quantities then PTT is prolonged PTT Vitamin K deficiency can prolong PTT II, IX, and X are dependent Coag factors are made in the liver so hepatocellualr disease will prolong Heparin inactivates prothrombin (II) no thromoplastin Monitor heparin whose effects are short-lived if too much is given protamine sulfate can reverse HCG <5 for non-pregnant people, used to diagnose pregnancy, increases throughout pregnancy, can be detected as early as 10 days post conception Secreted by placental trophoblast Immunologic test: high risk of false positive Beta subunit characteristic of hCG Radioimmunoassay: blood test for beta Radioreceptor assay performed in one hour reliable Ectopic pregnangy, hydatiform mole, and choriocarcinoma can produce Liver cancer cells as well PROTHROMBIN TIME Adequacy of extrinsic system and common pathway Activation of factor X in the presence of factor V and phospholipid and calcium Stimulates platelet aggregation and converst fibrinogen to fibrin in clot stabilization Factors I (fibrinogen) II (prothrombin), V, VII, and X PT Hepatocellular liver disease (cirrhosis, hepatitis, neoplastic invasive processes) I, II, V, VII, IX, X Obstructive biliary disease bile necessary for fat absorption decreases A,D,E and K are all fat soluble II, VII, IX, X all dependent on vitamin K, differentiate from liver disease because it responds to vitamin K Coumarin ingestion (warfarin) interfere with vitamin K associated factors; effects long lasting, can be fixed by vitamin K RHEUMATOID FACTOR Negative <60 units/mL Used in the diagnosis of RA RA: morning stiffness for 6 weeks, pain in at least one joint, swelling in at least 1 joint, symmetric bilateral joint swelling, presence of subcutaneous nodules, radiographic changes Abnormal IgG made in synovial joints IgG and IgM along with fc attack abnormal IgG Immune complexes are activated and joint destruction begins RF Tests mainly for identification of IgM Must be found in greater than 1:80 dilution SLE may also give false positive Tuberculosis, chronic hepatitis, infectious mononucleosis and subacute bacterial endocarditis may give false reading Does not disappear in remission BUN 10-20 mg/dL adult Child and infant 5-18 mg/dL Newborn 3-12 mg/dL Rough and indirect measurement of renal function and GFR also a measure of liver function Amount of urea nitrogen in the blood Urea is an end product of protein metabolism and digestion Elevated bun or azotemia BUN Shock, dehydration, congestive heart failure, excessive protein catabolism GI bleeding If kidney disease is unilateral and other kidney can take on role then BUN won’t be affected Ureteral and urethral obstruction Liver disease decreased BUN Can be normal if there is liver and kidney disease AMNIOCENTESIS Performed on women whose pregnancies are high risk (diabetic, obese, older) Indicate fetal maturity, distress, risk for RDS, genetic and chromosomal abnormalities, sex, NTD Lung maturity (lecithin and sphingomyelin ratio) lecithin is a major constituent of surfactant 2:1 indicates maturity; at 35 weeks rapidly increases AMNIO Phosphatidyglycerol (PG) small component of surfactant, produced by mature lung alveolar cells appear at 35 weeks Lamellar body count: produce by type II pneumocytes, represent the storage of surfactant Microviscosity: aggregates dependent on L/S ratio and degree of saturation of fatty acid side chains, high early decreases later AMNIO Rh isoimmunization: assess levels of bilirubin in amniotic fluid, indicates severity of hemolytic anermia in Rh-sensitized pregnancy higher bilirubin, lower fetal hemoglobin, early delivery or blood transfusion may be indicated Anatomic abnormalities: increased AFP neural crest abnormality Fetal distress: pale, straw colored fluid tinged with green, yellow indicates blood incompatibility, yellow-brown may be intrauterine death red is blood contamination ECHOCARDIOGRAPHY Normal findings: normal position, size, and movement of cardiac valves and heart muscle wall, normal directional flow of blood within the heart chambers Performed to evaluate heart wall motion and detect valvular disease, evaluate heart during stress testing and identify and quantify pericardial fluid Ultrasound procedure to evaluate structure and function of heart ECHO M-mode echocardiography recording of amplitude and rate of motion in real time Two dimensional ultrasonic beam moved within one sector of the heart 3D gives better image of heart wall and valves Color flow: direction and velocity of blood flow within heart and great vessels for valve function in regards to regurgitation Septal defects, perfusion, valvular heart disease, prolapse, stenosis, subaortic stenosis, tumors, aneurysm Perflutren (definity or optison) provides enhancement of borders OXIMETRY >95% is normal Monitors arterial oxygen saturation in patients at risk for hypoxemia. Surgery, cardiac stress testing, mechanical ventilation, heavy sedation, lung function testing or trauma Non-invasive measures home many hemoglobin have oxygen attached to them Fetal oxygen saturation monitoring: if heart is in distress but saturation is fine you can avoid c-section, placed on cheek between 30 and 70% EATING DISORDERS Anorexia nervosa: refusal to maintain body weight (BMI below 17.5), afraid of appearing fat, frequently staving but in denial, lacking insight, brought in by family members, failure to make expected weight gain as child or adolescent, amenorrhea, loss of libido or potency in men, depressive mood, irritability, social withdrawal, insomnia, decreased libido, self-induced vomiting or purging, excessive exercise, use of diuretics or appetite supressants Increased corticotropin releasing factor, cortisol, growth hormone, serotonin, decrease diurnal cortisol fluctuation, LH, FSH, TSH Bradycardia, hypotension, arrhythmias, cardiomyopathy Hypokalemia, hypochloremic metabolic alkalosis, increased BUN, edema Dry skin dental carries, delayed gastric emptying, constipation, anemia, osteoporosis FREMITUS Palpable vibrations transmitted through the bronchopulmonary tree to the chest wall as the patient is speaking. To detect use ball or ulnar surface of hand to optimize vibration in bones of hand. Repeat 99 or one one one Is decreased or absent when the voice is soft or when the transmission of vibrations from larynx to chest is impeded. Causes of faint fremitus: very thick chest walls, obstructed bronchus, COPD, fibrosis, pleural effusion, pneumothorax or infiltrating tumor HYPER-RESONANCE Very loud, lower pitch, longer duration Generalized hyper-resonance may be heard over the hyper-inflated lungs of COPD or asthma, but it is not reliable Unilateral hyper-resonance suggests a large pneumothorax or large air filled bulla in lung GRAVIDA-PARA Gravida = total number of pregnancies Para = or outcomes of pregnancies • Often after you will see notations F (full-term), P (premature), A (abortion), L (living child) APGAR Key assessment of newborn immediately after birth 5 components take at 1 and 5 minutes after birth based on 0,1, or 2, total score is 010, five minute score of 8+ move on to full exam 1 minute score 8-10 normal, 5-7 some nervous system depression 0-4 severe depression requiring immediate resuscitation 5 minute score 8-10 normal, 0-7 high risk for subsequent central nervous system and other organ dysfunction APGAR Clinical sign 0 1 2 Heart rate absent <100 >100 Respiratory effort Absent Slow and irregular Good, strong Muscle tone Flaccid Some flexion of arms and legs Active movement Reflex irritability No response Grimace Crying vigorously, sneeze or cough color Blue/pale Pink body, blue extremities Pink all over VITAL SIGNS Doppler method detects arterial blood flow vibrations, converts them to systolic normal for males is 70 mmHg at birth 85 at 1 month and 90 at 6 months Pulse is best found at femoral artery VITAL SIGNS age Average heart rate Range Birth 0-2 140 90-190 0-6 130 80-180 6-12 115 75-155 VITAL SIGNS Fever can raise respiratory rates by 10 respirations per minute for each degree centigrade of fever Temperature rectal, oral and auditory canal (rectal in infants) • Usually above 99 degrees until after 3 years • May approach 101 in normal children in late afternoon after vigorous activity • Above 100 <2-3 months may be a sign of a serious infetion Respiratory rate 30-60 per minute • Birth – 2 months >60/minute cutoff • 2-12 months >50/ minute cutoff VERTEX PRESENTATION Presentation of any part of the fetal head during birth Head/neck in flexion so chin is pushed against chest May be different degrees of flexion CONGENITAL ADRENAL HYPERPLASIA Refers to disorders of adrenal steroid biosynthesis that result in glucocorticoid and mineralcorticoid deficiencies Because of deficient cortisol biosynthesis, increases in ACTH occurs, inducing adrenal hyperplasia and overproduction of steroids that precede blockage of enzyme production 21-hydroxylase (CYP21) deficiency is the most common (95%) CAH Failure of CYP21 and 17 hydroxyprogesterone and progesterone to 11 deoxycortisol and 11 deoxycorticosterone respectively with deficient cortisol and aldosterone is to replace Aim of treatment for class in 21 hydroxylase deficiency is to replace glucocorticoids and mineralcorticoids, suppress ACTH and androgen overproduction and allow for normal growth and sexual maturation in children SOUTHERN BLOT Used for identifying DNA sequences on gels Produced when DNA on a nitrocellulose blot of an electrophoretic gel is hybridized with a DNA probe BMP/Chem-7: • • • • • • • Sodium Chloride Potassium CO2/Bicarbonate BUN Creatinine Glucose BMP VS. CMP/Chem-12: CMP • Same as BMP plus: • • • • • AST ALT Albumin Bilirubin Alkaline Phosphatase SODIUM (NA) Normally 125-145 mmol/l Collect in red top tube Increased: Diabetes inspidius, exessive sweating, Cushing’s syndrome Decreased: Excess body water (CHF, renal failure, small cell lung cancer, brain disorders), hypothyroidism, vomiting, diarrhea, pancreatitis CHLORIDE (CL) Normally 97-107 mEq/L Collect in tiger top tube Increased: Diarrhea, hyperalimentation Decreased: Vomiting, renal disease, diabetic ketoacidosis POTASSIUM (K) Normally 3.5-5 mEq/L Collect in red or tiger top tube Hemolysis may falsely elevate level Increased: Renal failure, Addison’s disease, dehydration, ACE inhibitors, Spironolactone Decreased: Diuretics, NG suctioning, vomiting, diarrhea, metabolic alkalosis CARBON DIXOIDE (CO 2 ) Normally 23-29 mmol/L Collect in tiger tube top; don’t expose to air CO2 excreted into blood as bicarbonate Increased: COPD, severe vomiting Decreased: Starvation, diabetic ketoacidosis, diarrhea, dehydration BLOOD UREA NITROGEN Normally 5-20 mg/dl Collect in tiger top tube Increased: Renal failure, CHF, aminoglycosides Decreased: Starvation, liver failure BUN:Creatinine >20 suggests dehydration BUN:Creatinine >30 suggests GI bleed CREATININE Normally <1.1 mg/dl Collect in tiger or red top tube Measures blood flow through kidneys Increased: Renal failure, false positive seen in diabetic ketoacidosis Decreased: Muscle wasting, liver disease GLUCOSE Normally 80-140 mg/dl Collect in red or tiger top tube Slight increase normal with aging Increased: DM, Cushing’s syndrome, pancreatitis, thiazide diuretics Decreased: Liver disease, malnutrition, sepsis, endocrine tumors AST/ALT Aspartate Aminotransferase: Alanine Aminotransferase: • Normally 7-42 IU/L • Increased: Liver disease, muscle trauma, burns • Decreased: Vitamin B6 deficiency, dialysis • AST>ALT in alcoholic hepatitis • Normally 1-45 IU/L • Increased: Liver disease, billary obstruction • ALT>AST in viral hepatitis ALBUMIN Normally 3.5-5 g/dl Collect in tiger top tube Best lab test for measuring protein Decreased: Malnutrition, nephrotic syndrome, alcoholic cirrhosis, inflammatory bowel disease, metastatic cancer, leukemia, Hodgkin’s disease BILIRUBIN Normally 0.3-1 mg/dl Collect in tiger top tube Increased: Liver damage, hemolysis, billary obstruction ALKALINE PHOSPHATASE Normally 25-160 IU/L Collect in tiger top tube Increased: Liver disease, billary obstruction, bone tumors, healing fracture, hyperparathyroidism, hyperthyroidism Decreased: Malnutrition, excessive vitamin D intake, pernicious anemia, zinc deficiency WHITE BLOOD COUNT Normally 4500-11,000 Differential provides more clues to cause than overall count does Increased: Infection, inflammation, leukemia Decreased: Bone marrow failure, vitamin B12 deficiency CAUSE OF INCREASED DIFFERENTIALS Basophils: Leukemia, s/p spleenectomy Eosnophils: Allergies, asthma, parasites Lymphocytes: Viral infections, leukemia Monocytes: Bacterial infections, protozoan infections, ulcerative colitis Neutophils: Bacterial infection, noninfectious tissue damage, metabolic disorders H & H Hematocrit: ~40-50% (lower in women, higher in men) The percentage of blood that is RBCs Decreased with anemia and blood loss Hemoglobin: ~12-16 g/dl (lower in women, higher in men) Does not acurately reflect acute bleeding because plasma and RBC lost at same rate COAGULATION STUDIES Collect in blue top tube PT: 11.5-13.5 second INR: 0.8-1.4 Higher with mechanical heart valves or history of thromboembolitic disease or atrial fibrillation INR is now the standard measure reported CAUSES OF POSITIVE VALUES ON UA Bilirubin: Jaundice, hepatitis, fecal contamination of sample Blood: Stones, BPH, infection, Foley cath Glucose: DM, pancreatitis, steroids Ketones: Starvation, high fat diet, diabetic ketoacidosis, vomiting, diarrhea, asprin overdose CAUSES OF POSITIVE VALUES ON UA Leukoesterase: UTI • Leukoesterase plus nitrates: 75% of UTI • Neither LE or nitrates: 92% not UTI Protein: Renal failure, CHF