Paediatrics open blog

X-linked dominant and recessive disorders

X-linked dominant disorders 1.Familial hypophosphatemic rickets2.Urea cycle defect due to deficiency of ornithine transcarbamylase3.Incontinentia pigmenti4.Rette’s syndrome X-linked recessive disorders 1.Duchenne muscular dystrophy2.G6PD deficiency3.Hemophilia A and B4.Color blindness5.Lesch Nyhan syndrome6.FABRY’s disease7.Wiskott Aldrich syndrome8.Chronic granulomatous disease Other similar posts: Autosomal dominant disorders Autosomal recessive disorders

Autosomal recessive disorders

Autosomal recessive disorders include most of the metabolic problems. Cystic fibrosis Wilson’s disease Gaucher’s disease Alpha -1-antitrypsin deficiency Hemochromatosis Neiman-Picks disease Hurler’s disease Tay-Sachs disease Fredrick’s ataxia   Other similar posts: X-linked dominant and recessive disorders Autosomal dominant disorders

Autosomal dominant disorders

We can remember the Autosomal dominant disorders by the mnemonic- DOMINANT VH3 D– Dystrophia myotonica O– Osteogenesis imperfecta M– Marfan’s syndrome I– Intermittent porphyria N– Noonan’s syndrome A– Achondroplasia, Adult polycystic kidney disease N– Neurofibromatosis T– Tuberous sclerosis V– Von Willebrand’s disease H– Hypercholesterolemia H– Huntington’s chorea H– Hereditary spherocytosis -Mrunali Gondane Other similar posts: …

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Must know drugs for medical emergencies

Anaphylactic shock Adrenaline 0.5 ml sc / im Hydrocortisone 200 mg iv Diphenhydramine 25-50 iv/im Hypoglycemia Oral glucose Fruit juice 50 ml of 50% iv Glucose Glucagon Acute Myocardial infarction •Attach a Cardiac monitor •Administer Oxygen if oxygen saturation is <94% •Establish iv access •Nitroglycerin 0.5 mg sublingual •Morphine 5 mg iv with an Antiemetic …

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Status epilepticus

Status epilepticus is sustained epileptic activity with 1. two fits without recovery of consciousness in between OR 2.single fit of >30 mins with or without loss of consciousness Treatment aims at controlling seizures within 1 hour of admission. STEP A (first 20 mins) Maintain ABC (airway, breathing, circulation) measure blood sugar take a brief history …

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Acute pyogenic meningitis

Common in neonates and infants because of poor immunity. COMMON ORGANISMS Neonates (upto 28 days): E.coli, Streptococcus pneumoniae, Pseudomonas 3 months to 3 years: Hemophilus influenzae, S. pneumoniae, N. meningitidis Beyond 3 years: S. pneumoniae, N. meningitis RISK FACTORS FOR NEONATAL MENINGITIS Low birth weight Prematurity Complicated labour Prolonged rupture of membranes Maternal sepsis Babies …

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Nocturnal Enuresis

Enuresis denotes normal urinary bladder emptying at a wrong place and time at least twice a month after the age of 5 years. Nocturnal enuresis refers to bedwetting. More common in boys. ETIOLOGY : Psychologic : family conflicts and maladjustment (strict parents,sibling rivalry) Physical : Anatomic defects, genitourinary infection, threadworm infection Too late, too early, …

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