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Biochemical Investigations in Laboratory Medicine

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Paediatric
       Neonatal Conditions
          Ambiguous Genitalia
          Investigation of hypoglycaemia in infancy
          Metabolic acidosis in infancy
       Childhood & adolescence
          Tall Stature
          Short Stature
          Precocious Puberty in Females
          Precocious Puberty in Males
          Delayed Puberty in Females
          Delayed Puberty in Males
          Childhood Hypoglycaemia

Endocrinology
       Pituitary, thyroid & adrenal
          ? Cushings' Syndrome
          Hyperprolactinaemia
          Pituitary Incidentaloma
          Hypopituitarism
          Adrenal Failure
          Phaeochromocytoma
          Hyperaldosteronism
          Adrenal Incidentaloma
          Abnormal TFTs
       Sex hormones & fertility
          Hirsutism
          A/oligomenorrhoea and Infertility
          Female Virilism
          Gynaecomastia
       Diabetes
          Diabetes mellitus and IGT
          Hypoglycaemia

Renal & electrolytes
       Polyuria and/or Polydipsia
       Hyponatraemia
       Hypernatraemia
       Hypokalaemia
       Hyperkalaemia
       Hypocalcaemia
       Hypercalcaemia
       Hypophosphataemia
       Hyperphosphataemia
       Renal Stones
       Endocrinology of Renal Failure
       Renal Tubular Acidosis
       Hypomagnesaemia

Metabolic
       General medical disorders
          Confusion
          Excessive Generalised Sweating
          Flushing
          Generalised Pruritus
          Haemochromatosis
          Hyperlipidaemia
          Hyperpigmentation
          Hyperuricaemia
          Metabolic Acidosis
          Metabolic Alkalosis
          Muscle Weakness
          ? Porphyria
          ? Wilson's Disease
          ? Glycogen Storage Disorders
       Metabolic bone disease
          Bone Pain
          Osteomalacia
          Osteoporosis
       Nutrition
          Assessment of Nutrition
          Metabolic Aspects of TPN
          Causes of vitamin deficiency
          Physical Signs of Malnutrition
          Vitamin Deficiencies

Investigation protocols
       Ammonium Chloride Acidifcation Test
       Calcium Absorption Test for Hypercalciuria
       Clonidine test for phaeochromocytoma
       Fasting Test for Gilbert's Syndrome
       Frusemide Acidification Test for Renal Tubular Aci
       Glucagon Test for Glycogen Storage Diseases
       Glucose Tolerance Test for Diabetes
       hCG Stimulation Test
       Hypertonic Saline Infusion
       Ischaemic Exercise Test
       Lipoprotein lipase deficiency
       Magnesium Infusion
       Penicillamine Test for Wilson's Disease
       Protocol for the emergency Rx of hypoglycaemia
       Water Deprivation Test 1
       Water Deprivation Test 2
       Water Deprivation Test 3
       Hyperaldosteronism protocols
          Aldosterone Sampling Protocols - First Line
          Aldosterone Sampling Protocols - Prostural Studies
          Fludrocortisone Suppression Test for Hyperaldoster
          Frusemide Test for Hyperaldosteronism
          Saline Infusion Test for Hyperaldosteronism
       Pituitary protocols
          1 mg Dexamethasone (Overnight) Suppression Test
          IV dexamethasone suppression test in obesity
          Clonidine GH stimulation test
          Corticotrophin Releasing Hormone (CRH) Test
          Glucagon Test for Pituitary Function
          Glucose Tolerance Test for Acromegaly
          GnRH Test
          Insulin Tolerance Test
          Pituitary Function Tests for Short Children
          TRH Test
       Synacthen tests (short & long)
          Standard Short Synacthen Test
          Low Dose (1 µg) Short Synacthen Test
          Short Synacthen for Congenital Adrenal H
          Short Synacthen Test for hypoaldosteronism
          Depot (prolonged) Synacthen Test

Misc
       Guidelines
       Safety issues
          Safety issues for metabolic tests in children
          Siting an IV cannula for serial blood sampling
       Monitoring Hormone Therapy
       Drugs interfering with hormone tests
       Effect of drugs on metanephrines
       GH standardisation
       Wrong results
       Endocrinology links
       IEM links
       Bone & mineral metabolism links
       Synthetic glucocorticoids and cortisol assays
       Redundant tests
       Patient Information Sheets

Misc

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April 8, 2020

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Inborn errors of metabolism (IEM)

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