Viva Flashcards

Question

List causes for raised conjugated bilirubin.

Answer 1

Cholestasis biliary Atresia Dubin-Johnson Syndrome Rotor Syndrome

Answer 2

Increased unconjugated Bilirubin. Crigler-Najjar type 1 is a rare fatal Autosomal Recessive disorder with absent UGT1A1 activity. Crigler-Najjar type 2 is Autosomal Dominant with reduced UGT1A1 activity - can only form monoglucoronidated bilirubin. Gilbert's is less pronounced than type 2 CN, is AR activity of UGT1A1 is ~ 30%

Answer 3

Increased conjugated bilirubin. Dubin-Johnson is AR, with a decrease in secretion of conjugated bilirubin., due to a missing transfer protein. The liver is darkly pigmented. Rotor syndrome is AR, multiple defects in hepatocyte uptake and excretion of bilirubin. This has a normal looking liver.

Answer 4

Cold temperatures fist pumping small gaged needle with larger tube( Vacuume) Syringe collect transfer with increased pressure.

Answer 5

Na Creatinine & urea EGFR urine sp gravity serum and urine osmolality

Answer 6

PL Cortisol Epinephrine norepinephrone

Answer 7

LH/FSH ratio Testosterone FAI

Answer 8

PEG (MacroPL) Stress TFT (TRH stimulation) Renal function (Decreased clearance) IGF-1 (Association with GH secreting tumours) Other pituitary hormones ACTH,LH,FSH (May be supressed in prolactinoma) Testo/E2 Diuretics Dopamine blockers (SSRI etc)

Answer 9

Serum protein electrophoresis, immunofixation, bone marrow aspiration. increased globulin fraction of TP, rouleux on PBF

Answer 10

Raised ferritin, raised transferrin saturation %, HFE gene mutations, C282Y, H63D & S65C

Answer 11

All Autosomal Recessive Cystathionine synthase deficiency Decreased affinity of cystathionine synthase for pyridoxal phosphate methionine synthase deficiency MTHFR deficiency

Answer 12

Atherosclerosis Kyphosis Mental retardation

Answer 13

a.k.a TPMT used to treat acute lymphoblastic leukemia, inflammatory bowel disease and autoimmune disorders, organ transplant recipients.

Answer 14

To differentiate malabsorptive/maldigestion due to pancreatic causes (exocrine insufficiency) from other causes, and/or to assess efficacy of treatment.

Answer 15

Quality policies quality objectives quality procedures Training Risk Management Evidence-based decision making Continuous improvement

Answer 16

Decreased intake - Poor diet, Starvation increased excretion - Mg2+ depletion - increases renal K+ loss Mineralocorticoid excess - 1' Aldosteronism, Cushing Syndrome, Renin producing tumour, Licorice excess. Bartter Syndrome Thick Ascending LOH, Defect in Na-2K-Cl transporter (like loop diuretics- NaCl wasting, hypercalciuria and mild hypoMg2+ (LOOP DIURETICS LOSE CA) Gitelmann syndrome - DCT, defect in Na-Cl co-transporter (like Thiazide diuretics), NaCl Wasting hypercalciuria and hypoMg (Thiazides PRESERVE Ca2+) Liddle Syndrome - Collecting duct, continuous activation of ENaC leading to increased Na absorption, severe hypertension with low renin and aldosterone- Tx with ENaC blockers Amiloride, triamterene. Transcellular shifts Insulin/Glucose Beta agonists Alkalosis Hypokalaemic period paralysis

Answer 17

Primary hypertension (Essential hypertension) - atherosclerosis Secondary hypertension - Adrenal gland tumours - Conn's(Low renin, high Aldosterone), Phaeochromacytosis (high norepinephrine, epinephrine, 3MT) Renin secreting tumours (High renin, high aldosterone) Liddle Syndrome - Low renin and Aldo.

Answer 18

ALP - early marker P1NP Osteocalcin - late marker

Answer 19

CTX NTX DPD PYD

Answer 20

Specificity = FP/FP+TN. number of people without disease testing negative

Answer 21

Sensitivity = TP/TP+FN. number of people with disease testing positive

Answer 22

PPV = TP/TP+FP %

Answer 23

NPV= TN/TN +FN %

Answer 24

LR+ = Sensitivity/1-Specificity

Answer 25

LR- = 1-Sensitivity/Specificity

Answer 26

Alcoholism Hypothyroidism Pancreatitis Oral contraceptive Corticosteroid medication

Answer 27

hCG Sulfated hCG Hyperglycosylated hCG free beta hCG nicked hCG

Answer 28

L-Lactate + O2 >>>LOD>>> Pyruvate + H2O2 Total Cholesterol (CE) + H20 >>>Chol esterase>> Cholesterol + FFA B-D Glucose + O2 + H2O >>> GO>>> D-Gluconic acid + H2O2 Enz Creatinine - Creatinine + H2O >>> Creatininase>>> Creatine

Answer 29

Genetic test for HH

Answer 30

Most common mutation of the CFTR gene (Cystic Fibrosis)

Answer 31

The two main celiac disease genes

Answer 32

KRAS, HRAS and NRAS are part of the RAS family of oncogenes. Important for apoptosis.

Answer 33

Late night cortisol 24hr urine free cortisol 1 mg overnight Dexamethasone Suppression test.

Answer 34

infection - Bacterial, parasitic, viral Endocrinopathies - Hyperthyroidism, diabetes Maldigestive and malabsorptive disorders (Celiac, lactose intolerance, exocrine pancreatic insufficiency. gut-brain interaction (IBS) inflammatory conditions (Crohn's, ulcerative colitis) Medications (Laxatives)

Answer 35

IF- antibodies b12/Fol Holotranscobalamin Fe studies

Answer 36

C,M,P, ALKP, EUC PTH - reduced/Lower 1/2 RI- Check Vit D, PTHrP - increased / upper 1/2 RI - Check CaE >32 PHPT <32 FHH

Answer 37

TRaB - TSH receptor antibody associated with Graves Disease, TSI - Thyroid stimulating autoantibodies

Answer 38

Could be subclinical rpt TFT in 1-3 months

Answer 39

primary hypothyroidism Check anti - TPO

Answer 40

rule out preanalytical factors, fibrin, heterophile Ab etc possible TSHoma, Thyroid hormone resistance

Answer 41

CA 125 is a marker used for serous carcinoma, especially carcinoma of the ovary, but elevations are also seen in peritoneal disease of any cause.

Answer 42

CA 19.9 is a marker used for gastrointestinal malignancy, especially carcinoma of the pancreas.

Answer 43

Breast malignancy

Answer 44

Monitoring progress of neural crest tumours including small cell carcinoma of lung

Answer 45

Hepatocellular carcinoma Germ cell tumour Ovarian, Testicular

Answer 46

Difference plot. Plots the difference between measurements against their average. the mean difference is the estimated bias, and the standard deviation of the differences measures the random fluctuations around the mean. If there is a consistent bias, it can be adjusted for by subtracting the mean difference from the new method.

Answer 47

UV/VIS HPLC detector - e.g diode array Electrochemical detector Mass spec Fluorescence

Answer 48

MacroPL Stress Prolactinoma Dopamine increasing medications (Antidepressants)

Answer 49

Calc Osm = 2xNa + urea + glucose

Answer 50

AG = (Na+ + K+) - (HCO3 + Cl-)

Answer 51

Methanol, Ethanol, ureamia, DKA, iron, lactate

Answer 52

Agarose Polyacrylamide

Answer 53

Amido black Coomassie Brillant blue Ponceau S

Answer 54

Preanalytical - Delayed testing PST Prolonged fasting Insulinoma alcohol, timing or taking too much diabetes medications

Answer 55

uALb Urine protein any immunochromogenic test Quant hCG Serum free light chains

Answer 56

Preanalytical- Adenylate Kinase cross reactivity - haemolysis Macro-CK Rhabdomyolysis ACS

Answer 57

Preanalytical- IV dilution Pregnancy Inflammatory process Liver disease Malnutrition

Answer 58

Diazo methods diazotised sulfanilic acid + bilirubin >>> Colour complex with accelerator = Total bilirubin (Indirect) without accelerator = conjugated (direct) pH~1 Enzymatic - bilirubin oxidase to convert bilirubin to biliverdin. measuring a fall in absorbance

Answer 59

5HIAA, 5-HT platelets (Serotonin)

Answer 60

PTH PTHrP 24hr urine Calcium - CaE

Answer 61

Serial dilution - non linear response HBT - eg SCANTIBODIES Testing on different platform PEG

Answer 62

Medullary carcinoma of the thyroid, MEN 2 investigation. Dynamic test - Pentagastrin stimulation test (increased stimulation with Med Thyroid Cx)

Answer 63

For Lactate/Pyruvate ratio > L:P indicates 1' lactic acidosis. Normal L:P ratio indicates 1' pyruvic acidosis( e.g pyruvate dehydrogenase deficiency)

Answer 64

B12 deficiency

Answer 65

Tumour marker for ovarian cancer.

Answer 66

aka box plot, typically used as part of EQA evaluation. Scatterplots of 2 EQA results with elliptical confidence areas around them. Used to compare all labs, Method specific, Platform specific, Manufacturing specific. Results in top right show pos bias, bottom left shows negative bias. Top left and bottom right imprecision although arbitrary with only 2 results.

Answer 67

* Type 1 * Type 2 earlier onset usually later onset (>30 y.o.) 80% under the age of 10 linked to obesity unknown trigger family history associated with autoantibodies progressive associated with other autoimmune disease often asymptomatic symptomatic on presentation * insulin resistant * insulin deficiency – higher insulin needed to maintain normoglycaemia * Autoantibodies * Autoantibodies - Ab positive in only 85-90% - 5-10% Caucasian adults with T2DM have Ab - Negative Ab seen in African or Asian - Usually positive Anti-GAD65 - Positive multiple Ab associated with >95% risk of T1DM

Answer 68

* Islet cell autoantibodies (ICA) - Ab to islet cell-cytoplasm * Anti-GAD - Ab to 65 kDa isoform of glutamic acid decarboxylase * IAA or IA-2 or IA-2A antibodies - Ab to two tyrosine phosphatase-like islet antigens * Insulin autoantibodies - previous exposure to insulin therapy

Answer 69

Diabetes mellitus 1 & 2 Neonatal diabetes mellitus - genetic defects of the beta cells Latent Autoimmune Diabetes in Adults - After 30 years of age; “type 1 diabetes in old people” Requires insulin or presents with acute keto-acidosis. Mature onset Diabetes in the young - Genetic mutations e.g Glucose Kinase Gestational Diabetes Diabetes Insipidus

Answer 70

* DKA * HONK ▪ Type 1 ▪ Type 2 ▪ Ketones elevated ▪ Ketones not elevated ▪ Can be very acidotic ▪ Not very acidotic (pH>7.3) ▪ Tend to have severe vomiting and abdo pain ▪ Tend not to have abdo pain or vomiting ▪ BSL 14-33 mmol/L ▪ BSL often >33 mmol/L

Answer 71

Primary Hyperthyroidism Secondary Hyperthyroidism (Renal) Severe calcium deficiency Severe vitamin D deficiency

Answer 72

Rifampin Poppy seeds Heroin Morphine

Answer 73

Preanalytical- delayed testing PST Prolonged fasting Insulinoma Exogenous insulin , Alcohol,

Answer 74

Preanalytical - ictereus , haemolysis High protein diet Urea cycle defects - genetics defects affecting any of the 6 enzymes or 2 transporters that are directly involved in the urea cycle. Most AR (carbamoylphosphate synthetase 1, mitochondrial ornithine transporter, argininosuccinate lyase, arginase 1, N-acetylglutamate synthase, glutamate dehydrogenase, glutaminase)except most common cause X-linked OTC deficiency. Valporate therapy

Answer 75

Diagnosis of bacterial sepsis Monitoring the progression of sepsis and its response to treatment. can also be raised post surgery, trauma.

Answer 76

Creatinine clearance (mL/Min) = (urine creatinine (mmol/L) X urine volume (mL) X 16.7/ plasma creatinine mmol/L x 24 (hours) Normal > 70 mL/Min in young adult

Answer 77

MCV decreases Hb decreases HCT decreases Ferritin decreases (except for in ACD) transferrin Saturation % decreases

Answer 78

5-Hydroxyindoleactic acid (5- HIAA) Acidified 24 hour urine Restriction of Bananas, Avocados, Pineapples, chocolate

Answer 79

Myasthenia gravis - a chronic autoimmune, neuromuscular disease that causes weakness in the skeletal muscles (the muscles that connect to your bones and contract to allow body movement in the arms and legs, and allow for breathing).

Answer 80

Gliadin is one of the main proteins in gluten. The test is used to help find out whether you have celiac disease.

Answer 81

CYP2D6 is a gene that encodes the cytochrome P450 family 2 subfamily D member 6 (CYP2D6) protein. This protein belongs to the cytochrome P450 superfamily of enzymes, which are involved in the metabolism of various drugs and synthesis of cholesterol, steroids, and other lipids. CYP2D6 is primarily expressed in the liver and plays a crucial role in metabolizing approximately 25% of commonly prescribed drugs.

Answer 82

UGT1A1 encodes for the uridine diphosphate glucuronosyltransferase (UGT) 1A1 enzyme

Answer 83

Dexamphetamines Pseudoephedrine Methamphetamines

Answer 84

increased RCC Increased Plamsa volume Mild fasting hypoglycaemia Prolonged post prandial hyperglycaemia Greater suppression of glucagon Peripheral insulin resitance increased FAA, TG and Cholesterol decreased Amino acids and insulin decreased iron decreased Hb and HCT

Answer 85

poisoning with organophosphate insecticide. Genetic - enzyme deficiency (important to know before administering succinylcholine containing anesthesia) Liver disease CHF

Answer 86

Population screening program for inherited (genetic) diseases. Pre-symptomatic detection and treatment of metabolic genetic disease. Guthrie card bloodspot at 48-72h of age. Mass Spectrometry Amino acid panel : Phenyalanine, tyrosine, methionine, Citruline Acylcarnitine panel: 21 compounds of FA oxidation and organic acid abnormalities. Other tests Congenital hypothyroidism, CF, galactosaemia. Repeat testing of borderline results, recall for confirmatory testing.

Answer 87

Defect in the gene responsible for Phenylalanine hydroxylase or Pterin cofactor defect. Leading to decreased conversion of Phenylalanine to tyrosine.

Answer 88

Citrullinemia is an inherited urea cycle disorder that causes increased ammonia. Type I citrullinemia (Classic, ASS1 gene) Argininosuccinate synthase 1 deficiency. Type II citrullinemia, mutations in the SLC25A13 gene. Encodes for transport protein Citrin.

Answer 89

Argininosuccinic aciduria is a rare genetic disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL)

Answer 90

The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). The disorder may be caused by a deficiency of one or more of the enzymes methylmalonyl CoA mutase, methylmalonyl racemase, or adenosylcobalamin synthetic enzymes.

Answer 91

Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Galactosemia type II (also called galactokinase deficiency) type III (also called galactose epimerase deficiency)

Answer 92

Maple syrup urine disease (MSUD) is a rare inherited disease that causes the urine to have a characteristic maple syrup smell. Without treatment, it can lead to potentially life threatening complications. Decreased or decreased efficiency of human branched-chain alpha-ketoacid dehydrogenase complex (BCKAD) enzymes, meaning the body cannot breakdown isoleucine, Leucine and valine a.a .

Answer 93

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common fatty acid ß-oxidation disorders. It is an autosomal recessive disorder that has a good prognosis if management is started early. If not managed correctly, a metabolic crisis may result.

Answer 94

CF is an AR disorder caused by changes to CFTR gene. CFTR is a channel that sits on the surface of cells and transports chloride and other molecules, such as bicarbonate. The abnormal electrolyte transport system in CF causes the cells in the respiratory system to absorb too much sodium and water, leading to thick secretions in the lungs and increased risk for frequent respiratory infections.

Answer 95

MEN 1 Pancreas/GI endocrine pituitary (Parathyroid) Hyperparathyroidism Hypercalcemia Possible ZE syndrome Various Pit path-Acromegaly, Cushing, Galctorrhea Men 2a (RET mut) Phaeochromocytoma Medullary thyroid Cx Parathyroid Hyperparathyroidism hypercalemia medullary carcinoma increased calcitonin increased catecholamines Men2b (RET mut) Mucosal neuromas Mucosal nodules marfanoid body habitus (long limbs, chest deformities) medullary carcinoma Increased calcitonin Increased catecholamines

Answer 96

A separation technique in which charged particles migrate under the influence of an electric field. An electric field is applied to a solution through opposite charged electrodes. The particles migrate toward the electrode of the opposite charge. Mobility of the particles based on particle charge, shape and size). These are effected by -pH of buffer -Pore size of support medium -Voltage applied - Conductivity (ions present to carry the charge) - Time

Answer 97

SPE separates proteins into multiple band using an electric field and agarose gel. The fractions are separated by charge and size. Its used to distinguish between hyperglobulinemia caused by innate or acquired immune response (acute phase reaction or polyclonal gammopathy) and hyperglobulinemia caused by neoplastic proliferation (monoclonal gammopathy) Albumin is the most abundant followed by 5 globulin bands. Alpha 1 - Alpha-1-antitrypsin, thyroid-binding globulin, and transcortin. Alpha2 - Ceruloplasmin, alpha2-macroglobulin, and haptoglobin Beta1- transferrin Beta2- beta-lipoprotein, complement proteins Gamma- IgA, IgM, and IgG,

Answer 98

High Globulin fraction in LFTs, Rouleux formation on PBF. Suspected multiple myeloma, Waldenström’s macroglobulinemia, primary amyloidosis.

Answer 99

IgM M protein present Affected patients have hyperviscosity and hypercellular bone marrow with extensive infiltration by lymphoplasma cells.

Answer 100

The M protein has an incomplete heavy chain and no light chain, after immunofixation.

Answer 101

M protein appears as a narrow spike in the gamma, beta, or alpha2 regions. M-protein level is usually greater than 3 g per dL. S keletal lesions (e.g., lytic lesions, diffuse osteopenia, vertebral compression fractures) are present in 80 percent of patients. Diagnosis requires 10 to 15 percent plasma cell involvement on bone marrow biopsy. Anemia, pancytopenia, hypercalcemia, and renal disease may be present.

Answer 102

Patient’s serum diluted in alkaline buffer is placed into five separate wells within agarose gel plus one normal control, which is placed in an electrophoretic chamber, and a standardized voltage is applied to allow separation of the major protein groups by electrophoresis. The result is five identical tracks of separated proteins. the first track is the normal control (reference tract) is treated with a protein fixative. The remaining tracks are treated with specific heavy chain and light chain antisera that react with specific immunoglobulins in the separated protein tracks, causing them to be immunofixed in the agarose. All proteins not reactive with the antisera in the five treated tracks are removed in a wash step, followed by staining. After a second wash, fixed protein bands can be observed and compared with the bands found in the reference track, in order to identify the type of immunoglobulin by its heavy chain and light chain. * To identify and further characterise abnormal protein bands * Fixative and antisera are applied directly on the surface of the gel  ELP track  Anti-IgG  Anti-IgA  Anti-IgM  Anti-kappa  Anti- lambda * Staining with acid violet * More sensitive that electrophoresis alone

Answer 103

* Isoelectric focussing electrophoresis separates amphoteric (charged) compounds in a medium possessing a stable pH gradient o pH gradient is created with carrier ampholytes * The protein becomes “focussed” at a point on the gel as it migrates to a zone where the pH of the gel matches the protein’s isoelectric point (pI) * At this point the charge of the protein becomes zero, and migration ceases * Protein zones are very sharp because the region associated with a given pH is very narrow * IEF is widely used in neonatal screening programs to test for variant haemoglobins o Sensitive and widely used at low costs o Separates Hb according to isoelectric point  migrate in a pH gradient to the point where net charge become zero * Also used to detect oligoclonal bands in gamma-globulin

Answer 104

Quantification of Bence Jones proteins (monoclonal free kappa or lambda light chains in urine) is through urine protein electrophoresis. Identification is by immunofixation. Urine protein electrophoresis by Sebia Hydrasys gel electrophoresis: 1. Urine is concentrated by centrifugation in a concentrator tube (Amicon Ultra-4 centrifugal filter) 2. Urine is pipetted (using Sebia Assist, not manually) onto an applicator comb 3. Applicator comb is applied to the Hydragel agarose gel containing alkaline tris-barbital buffer and an electric current run through the gel to separate the proteins (migration time 7 minutes, drying time 10 minutes) 4. The agarose gel is then stained with amido black (18 minutes), washed and destained 5. Electrophoretograms are interpreted visually for pattern abnormalities 6. Densitometry (Sebia Assist “scanner”) is used to provide quantification of individual zones/bands in g/L (perpendicular cut).

Answer 105

* An ampholyte is a water soluble molecule that can perform as either a basic or acidic molecule depending on the pH of the buffer it is in o Eg amino acids o COOH  COO- o NH2 NH3+ * It becomes positively charged in a solution that is more acidic than its isoelectric point (pI) and migrates to cathode o if pH < pI the ampholyte carries a positive net charge (the larger the difference the larger the amount of positive charge) * In a more alkaline solution it becomes negatively charged and migrates towards anode o if pH > pI the ampholyte carries a negative net charge (the larger the difference the larger the amount of negative charge) * If pH = pI the net charge will be 0 * Proteins contain many ionisable amino (-NH2) and carboxyl (-COOH) groups o Behave as ampholytes in solution * Nucleic acid bases may be positively or negatively charged o Behave as ampholytes in solution * Ampholytes under action of an electric field (electrophoresis) will move at different speeds and in different directions o Therefore electrophoresis can allow the separation of electrical charged species

Answer 106

The rate at which molecules move in an electric field is determined by molecular size, shape and charge, as well as factors of the electrophoretic system. Electrophoretic system * Strength of the electric field (V) * Temperature of the system * Buffer (pH of the buffer, Concentration of the buffer) * Support medium (Pore size of the gel, concentration of the gel) * Time

Answer 107

Western blot (protein immunoblot) * is a transfer technique used to detect specific proteins/ Abs * Type of immunoblot Southern blot * classic method for DNA analysis - DNA is extracted from a sample using a phenolic reagent and then enzymatically digested using restriction endonucleases to produce DNA fragments - These fragments are then separated by agarose gel electrophoresis - The separated DNA fragments are denatured and transferred to a solid support medium – most commonly, nitrocellulose or a charged nylon membrane. The transfer occurs by the capillary action of a salt solution, transferring DNA to the membrane, or using an electric current to transfer the DNA - When the DNA is on the membrane, a labelled probe is added that binds to the complementary base sequence and appears as a band. * Northern blot – technique for detection of RNA molecules or species with defined sequences. - similar to southern blot. RNA is extracted, digested, electrophoresed, blotted and finally probed

Answer 108

Electrophoresis is a method of separating proteins based on their physical properties. Serum or concentrated urine is placed in sample wells on an agarose gel, and a charge is applied. The net charge and the size and shape of the protein determine the 'zone' the protein migrates to. The gel is stained, and the protein densities are calculated electronically, using protein and albumin concentrations obtained by routine automation chemistry methods. Protein subtypes can be determined by using immunoglobulin anti-sera , causing a precipitation reaction, known as immunofixation. Protein Electrophoresis is most commonly used for identifying and monitoring monoclonal gammopathies. Monoclonal gammopathies are associated with a clonal process that is malignant or potentially malignant, e.g multiple myeloma, Waldenstrom's macroglobulinemia, monoclonal gammopathy of undetermined significance MGUS, plasma cell leukaemia, and amyloidosis. If the examination is normal but multiple myeloma, Waldenström's macroglobulinemia, primary amyloidosis, or a related disorder is still suspected, the more sensitive serum free light chains (Nephelometry) and immunofixation also should be performed. An M protein is characterized by the presence of a sharp, well-defined band with a single heavy chain and a similar band with a kappa or lambda light chain. Once a monoclonal gammopathy is identified by SPE, the subtype must be determined, usually by immunofixation. For diagnosis, the quantity of the M-protein is important, the % of plasma cells in the BM and presents/absence of CRAB symptoms. C: Calcium elevation (>2.75mmol/L) R: Renal dysfunction (creatinine >173umol/L) A: Anaemia (Hb <100g/L) B: Bone disease (lytic lesions or osteoporosis)

Answer 109

A graphical tool for estimating how much the result on a diagnostic test changes the probability that a patient has a disease. Contains pre-test probability, Likelihood ratio and post-test probability

Answer 110

RCV=2.77 x(CVa2 + CVi2)1/2

Answer 111

The level of statistical significance. The smaller the p-value the better (usually <0.05)

Answer 112

A parametric test assumes that the data is normally distributed. Non-parametric does not require this assumption. Parametric is more powerful, can detect smaller differences between groups but can be sensitive to outliers. e.g T-test, regression analysis, pearson correlation coefficient. Nonparametric (Aka distribution free statistics) is more flexible e.g Chi-squared test, Wilcoxon signed rank test.

Answer 113

Tissue damage- Burns, Trauma, Rhabdo, tumour(necrosis/cytotoxics) Hypoinsulinaemia Digitalis HyperK+ periodic paralysis Succinyl choline hyperosmolality Arginine Acidosis

Answer 114

ARF CRF K sparing diuretics Addisons Tubular decrease response to Mineralcorticoids CAH - 21OHlase deficiency 11BOHlase deficiency 1' K transport defect- eg sickle cell anaemia

Answer 115

Urine K+ increased - Renal ARF, CRF Urine K+ decreased - decreased mineralcorticoids, K sparing diuretics

Answer 116

Malignancies - solid, haematological - skeletal involvement, ectopic PTH Primary hyperparathyroidism - Adenoma, hyperplasia, malignancy. MEN1 (Pit & pancr tumour) MEN2(Phaeo & med.Thy) Vitamin D excess or Vit A. post renal failure/dialysis. dehydration/tourniquet (increased albumin) Thiazide diuretics immobilisation Lithium Sarcoidosis

Answer 117

Hypoalbuminemia - malnutrition, cirrhosis, nephrotic syndrome Renal failure - skeletal resistance to PTH Post parathyroidectomy/thyroidectomy TPN (reduced intake) Acute pancreatitis Mg deficiency - decreased released/response to PTH

Answer 118

Delayed sep/Haemolysis Renal failure Malignant - hypercalcaemia insulin deficiency chemotherapy - Tumour lysis Vit D toxicity

Answer 119

nutritional recovery respiratory alkalosis d.K.A treated alcoholism antacid therapy hypothyroidism thiazide diuretics rickets/osteomalcia genetic

Answer 120

Loss of acid -vomiting -Diuretic therapy -mineralcorticoid excess -hypokalaemia -Cong Cl- losing diarrhoea Excess HCO3 -NaHO3 infusion -Milk-Alkali syn -Lactate infusion -Citrate post hypercapnia Decreased AG -Dilution -Hypoalbumineamia underestimation of [Na] - hyperNa, hyperviscosity overestimation of Chloride- bromide retained nonNa+ cations. -paraproteinaemia -hypercalcaemia -hypermag -Li

Answer 121

early uraemic acidosis obstructive uropathy carbonic anhydrase therapy mineral corticoid deficiency RTA

Answer 122

Central depression - Drug overdose (narcotics) CNS trauma, tumour, degenerative disorders -CNS infection -central hypoventilation Primary pulmonary -Chronic obstructive lung dx - Acute severe asthma -Severe pulmonary infections -ARDS Neurological dx affecting respiratory muscles.

Answer 123

Central -Anxiety -hypoxaemia -GN septicaemia -Salicylate -intoxication -pregnancy Pulmonary - pneumonia - Asthma - PE -early interstial lung dx - Congestive heart failure

Answer 124

Cardiopulmonary arrest severe pulmonary oedema Drug OD with central respiratory depression

Answer 125

hepatic failure and diuretics mechanical ventilation and nasogastric suction

Answer 126

septic shock renal failure with sepsis Salicylate toxicity

Answer 127

chronic obstructive lung disorder with diuretics

Answer 128

Renal failure with vomiting Vomiting with hypotension. (lactic acidosis)

Answer 129

Extra hepatic Cholelithiasis Tumour - Pancreatic Biliary structure Biliary atresia

Answer 130

Type 1 Distal - can't excrete H+, Urine pH >5.5, <15 HCO3 to compensate. assoc with renal stones. Type 2 proximal - impaired HCO3 reabsorption - can excrete H+ urine pH <5.5 to compensate. higher HCO3. Type 4 - impaired Cation exchange in distal tubule - high K+, HCO3 >15

Answer 131

Type 1 Distal (Classic) autoimmune (Sjogrens, SLe, thyroiditis) nephrocalcinosis (Primary hyperparathyroidism, Vit D intox) nephrotoxins(amphotericin B, Toluene inhalation) Obstructive nephropathy

Answer 132

Proximal hereditary part of Fanconi syndrome(proximal tubular defects with impaired reabsorption of glucose, phosphate and amino acids as well as HCO3) vit D deficiency Cystinosis lead nephropathy

Answer 133

Tubular hyperK+ (defect in cation-exchange in the distal tubule with reduced secretion of both H+ and K+) associated with renal failure caused by disorders affecting the renal interstiitium Aldo def Aldo resistance - Drugs - NSAIDS, ACE inhibitors, ARBs, sprironolactone

Answer 134

Diabetes/Metabolic syndrome Hypothyroidism High fat diet Nephrotic syndrome Cholestasis Glucocorticoids Acute pancreatitis

Answer 135

Familial Hypercholesterolemia - LDL-R, APO-B, PCSK9 - gain of function Polygenic hypercholesterolemia Autosomal recessive hypercholesterolemia Familial dysbetalipoproteinaemia Famial combined hyperlipidemia

Answer 136

Prolonged venous stasis Dehydration Hypergammaglobulinaemia - Polyclonal - liver cirrhosis, Chronic infections, Autoimmune - Monoclonal - Multiple myleloma, Waldenstroms, macroglobulinaema

Answer 137

Drip contamination Overhydration - IV Protein synthesis reduced - Decreased intake- malnutrition malabsorption liver dx Protein Loss - haemorrage - Burns -Nephrotic syndrome -Protein losing enteropathy

Answer 138

Fluid that leaks out of the blood vessels into nearby tissues due to inflammation or local cellular damage.

Answer 139

Fluid that leaves the vascular system due to changes in hydrostatic pressure eg. Cirrhosis , heart failure, Nephrotic syndrome (there is no inflammation of the vessels so proteins don't move out)

Answer 140

Intra or post hepatic biliary obstruction. Cholastasis Hepatic cX Alcohol intake Acute or chronic pancreatitis

Answer 141

Chronic renal failure hypothyroidism hypothalamic disorders

Answer 142

Ehrlich's aldehyde test is used to confirm diagnosis of acute intermittent porphyria. Urinary porphobilinogen test. Sulfonamides may produce a false-pos degradation to urobilin may give false-neg also used as indole test in micro

Answer 143

AST/ALT ratio used as a marker of alcohol-related liver disease, liver fibrosis and muscle disease

Answer 144

Linear regression procedure - uses non-parametric technique for method comparison. y = mx + C where m = slope C= y-intercept r2= value ideally close to 1.00

Answer 145

Differential diagnosis of hyperammonemia and hereditary orotic aciduria. The allopurinol test can be used to determine whether a female is heterzygous for x-linked OTC deficiency. When OTC deficient patient has been id in family. (cannot have urate lowering medication)

Answer 146

Low ceruloplasmin (< 0.2-0.4 g/L) High 24 hour urinary copper excretion (>1.0 umol/day) Sternlieb criteria - Kayser-Fleischer rings - typical neurological symptoms - slurred speech, parkinsonism - low ceruloplasmin Gold std is liver biopsy copper of > 250ug/g of dry weight (RI <50 ug/g)

Answer 147

Inulin clearance

Answer 148

Uses glucose oxidase method. b-D-Glucose + O2 + H2O>>GO>>> D-gluconic acid + H2O2 H2O2 + Chromogen >> Peroxidase>>> red dye GO is sensitive to Vit C interference, haemoglobin, bilirubin

Answer 149

Uses Nitroprusside to detect acetoacetate and acetone, but not B-hydroxybutarate.

Answer 150

Decreased urinary solvent (dehydration) Decreased stone inhibitors -decreased urine citrate - pH changes Increased solutes - Increased Ca(urine) - increased PTH, PTHrP - Decreased Ca reabsorption - Loop diuretic, - Increased oxalate(urine)

Answer 151

Calcium Oxalate - low citrate - type II RTA, PHP, PTHrP, loop diuretics Calcium Phosphate - high pH - type I RTA, PHP, PTHrP, loop diuretics Struvite stones (staghorn) - Mg, Phos, Ammonia - precipitation - High pH - bacteria (urease enzyme - Proteus, Pseudomonas, Klebsiella - increase ammonia) Cystine stones - low pH - chronic diarrhoea, type I RTA, Genetic dx (child) decreased reabsorption of cystine Uric acid - low pH, type II RTA, loss of GI HCO3, Gout, tumour lysis, Diabetes M, high purine diet

Answer 152

- 3rd trimester pregnancy - Children growth spurts - increased bone metabolism - fracture healing, 1' & 2' hyperparathyroidism with sketal involvement - osteomalcia/rickets Bone disease- Pagets, bone cancer Liver disease - extra hepatic bilary obstruction, cholastasis, hepatocellular necrosis

Answer 153

Cholic acid oxycholic acid bilirubin water phospholipids cholesterol

Answer 154

Present in exogenous pathway. Apo-E (binds to LDL-r or LRP on liver) & ApoCII (binds to sk&cardiac muscle receptors and adipocytes reacts with LPL) - donated from HDL Apo-B48 - from enterocyte rER

Answer 155

Endogenous pathway Apo-B100 from liver Apo-CII (binds to muscle and adipocyte receptors and activates LPL) & Apo-E (binds LDL-r on liver) donated from HDL

Answer 156

Reverse transport ApoA1 - can removes some chol from foam cells (ABCa1 and ABCg) ApoE ApoCII Also contain LCAT with ApoA1 to return chol to liver binds to SRBI receptor

Answer 157

Check QAP report methods in use in other labs and their performance consider interferences Labour Equipment TAT

Answer 158

Prostasis - UTI Benign prostate hyperplasia Prostate cancer when PSA is <10 can add free PSA (tends to be low in Cx) - Can avoid ~20% of unnecessary biopsies.

Answer 159

Diagnosis of PCOS Estimating egg count - fertility treatment Gender prediction

Answer 160

Haemolysis Delayed sep Temp Acute/Chronic liver failure - LFTs Type I distal RTA Medications - Valproate Urea cycle metabolic disorder -Ornitine transcarbamylase deficiency carbomyl phosphate synthase I deficiency Citrulineamia

Answer 161

NGAL KIM-1 Cystatin-C IL-18 FABP

Answer 162

Immunosupressant medication / inflammatory conditions/transplant pts. (Inhibits T cell activation calcineurin inhibitor) Derived from fungus Beavveria.nivea Whole blood sample- competitive IV or oral Lipophilic Liver P450 metabolism, elimination after sulfate conjugation urinary excretion

Answer 163

Follows zero order kinetics 95% protein bound A.K.A Dilantin Anti-seizure medication Oral or IV Cytochrome P450 metabolism Elimination mostly kidneys, Non- specific sodium channel blocker, targets most voltage gated sodium channel subtypes, prevent seizure by inhibiting the positive feedback loop that results in neuron propagation of high frequency action potential.

Answer 164

Anti-convulsant medication 80-90% protein bound. MOA- Blockade of voltage-gated sodium channels and increased brain levels of GABA, inhibits succinic semialdehyde dehydrogenase. Metabolised by glucoronide conjugation Excretion by kidneys hepatotoxic and teratogentic

Answer 165

A.K.A Tegretol Anti-Convulsant medication inhibits Na channels (decrease action potentials) 70-80% bound, absorption increased with high fat meals Liver metabolism CYP3A4 - hepatic glucotonidation by UGT2 enzyme B7 urinary elimination

Viva Flashcards

(189 cards)