12.09.27 Baby check + teaching notes

HSV

• • Subtypes

    • HSV-1 => most cold sores

    • HSV-2 => most genital herpes

      • But 10% is from HSV1

  • Prevalence in adults

    • 5-10% HSV2

    • 70-80% HSV1

  • Incidence of genital HSV2 in children: 1 in a million per year

Hepatitis C

• • Often asymptomatic

  • Chronic infection can lead to scarring of the liver and ultimately to cirrhosis

  • Spread primarily by blood-to-blood contact associated with intravenous drug use, poorly sterilized medical equipment and transfusions

  • The virus persists in the liver in about 85% of those infected

  • Persistent infection can be treated:

    • Combination of peginterferon and ribavirin

    • Overall, 50–80% of people treated are cured

Abdominal exam

• • Causes of enlarged spleen

    • Tumour

    • Malaria

    • Hereditary spherocytosis

    • EARLY sickle cell

      • Eventually => autosplenectomy

    • Rare stuff

  • Causes of abdo troubles

    • 1-2 weeks: Pyloric stenosis

    • 6-9 months: Celiac

    • 6-9 months: Intussusception

    • Variable: Cystic fibrosis

  • Poo starts like tar

    • Then => whole-grain mustard if breast fed

    • Then => English mustard if formula fed

  • Distinguishing spleen from kidney

    • Can't get above it

    • Moves with breathing

    • Notch (hard to feel in kids)

  • Notes

    • Huge spleen, otherwise well => Hereditary spherocytosis

Celiac disease

• • Presents around 6-9 months, after weening

  • Check antibodies PLUS total IgA

  • Then biopsy for a definitive diagnosis

  • Then gluten-free diet

    • All tests should become negative

    • => Can re-test to check compliance

Mitochondrial neurogastrointestinal encephalopathy (MNGIE)

• • Rare, autosomal recessive

  • Usually appears between the second and fifth decades of life

  • Those with MNGIE are often thin, experiencing continuous weight loss

  • Gastrointestinal:

    • Dysmotility possibly resulting in pseudo-obstruction

    • Borborygmi, early satiety, diarrhea, constipation, gastroparesis, nausea, vomiting, weight loss, diverticulitis

  • Neurological:

    • Diffuse leukoencephalopathy, peripheral neuropathy, myopathy

  • Ocular:

    • Retinal degeneration, ophthalmoplegia, ptosis

Galactosaemia

• • Autosomal recessive

  • Incidence is 1 per 60,000 births for Caucasians

  • Can't metabolise galactose

    • cf Lactose

Notes

• • Hamartoma

    • Benign, focal malformation

    • Resembles a neoplasm but not malignant

    • Grows at the same rate as the surrounding tissues

  • Malignant tumors

    • Mesenchymal => Sarcoma

    • Epithelial => Carcinoma

  • Blood in the wrong place

    • Haematoma: Within tissue

    • Ecchymosis: Thin layer spread under skin

  • Tongue tie doesn't generally have any consequences for feeding or language development

    • Can impair feeding if very far forward

  • Creon

    • Amylase, lipase, protease

    • Used as pancreatic enzyme replacement in CF

  • Hypovolaemic shock

    • => Sluggish venous flow

    • => Thrombosis in big veins

      • Sagittal sinus

      • Renal vein

  • Endothelium is ALWAYS leaky

    • Epithelium is sometimes leaky too, but can have tight junctions

  • Laryngomalacia

    • First presents around 3-4 weeks

      • Noisy breathing

    • Usually resolves in 6 months

    • Caused by hypocalcaemia?

  • Primary ciliary dyskinesia

    • 50% have dextrocardia

      • Cilia normally move the heart across

      • Without them, it's 50:50

    • Sinusitis is common

      • Can look a bit like CF

  • Chromosome nomenclature

    • Long arm = q

    • Short arm = p

  • DiGeorge syndrome

    • Many possible deletions around 22q11.2

    • CATCH-22

      • Cardiac Abnormality (especially tetralogy of Fallot)

      • Abnormal facies

      • Thymic aplasia

      • Cleft palate

      • Hypocalcemia/Hypoparathyroidism