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