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Comprehensive Pediatrics Glossary

J

Jaundice (Neonatal and Pediatric)

  • Definition: Yellow discoloration of skin, sclera, and mucous membranes due to elevated bilirubin.

  • Types:

    • Physiologic: Appears after 24 hours of life; resolves spontaneously.

    • Pathologic: Appears within 24 hours, rapid rise, prolonged duration, or direct hyperbilirubinemia.

  • Etiologies:

    • Hemolytic: ABO or Rh incompatibility, G6PD deficiency.

    • Hepatic: Neonatal hepatitis, metabolic disorders.

    • Obstructive: Biliary atresia, choledochal cyst.

  • Clinical Features: Yellowing of skin progressing head-to-toe, poor feeding, lethargy in severe cases.

  • Investigations: Total and direct bilirubin, blood type, Coombs test, liver function tests, ultrasound if obstructive cause suspected.

  • Management:

    • Phototherapy for elevated indirect bilirubin.

    • Exchange transfusion for severe hyperbilirubinemia.

    • Treat underlying cause (surgery for biliary atresia, medications for hemolysis).

Juvenile Idiopathic Arthritis (JIA)

  • Definition: Chronic autoimmune arthritis in children <16 years, lasting >6 weeks.

  • Subtypes:

    • Oligoarticular (≤4 joints)

    • Polyarticular (>4 joints, RF-positive or negative)

    • Systemic (Still’s disease: fever, rash, hepatosplenomegaly)

  • Clinical Features: Joint pain, swelling, morning stiffness, growth retardation in chronic cases.

  • Investigations: CBC, ESR, CRP, ANA, RF, joint imaging (X-ray, MRI).

  • Management: NSAIDs, corticosteroids, DMARDs (methotrexate), biologics (etanercept).

  • Complications: Growth impairment, joint deformities, uveitis.

Juvenile Dermatomyositis

  • Definition: Rare autoimmune inflammatory myopathy with characteristic skin findings.

  • Clinical Features:

    • Proximal muscle weakness.

    • Gottron papules, heliotrope rash.

    • Calcinosis in chronic cases.

  • Investigations: Elevated CK and LDH, EMG, MRI, muscle biopsy.

  • Management: Corticosteroids, immunosuppressants (methotrexate, azathioprine), physical therapy.

  • Prognosis: Varies; early treatment improves outcome.

Juvenile Diabetes Mellitus (Type 1 Diabetes)

  • Definition: Autoimmune destruction of pancreatic beta cells, leading to insulin deficiency.

  • Clinical Features: Polyuria, polydipsia, polyphagia, weight loss, fatigue.

  • Investigations: Blood glucose, HbA1c, C-peptide, autoantibodies (GAD, ICA).

  • Management: Lifelong insulin therapy, carbohydrate counting, blood glucose monitoring.

  • Complications: Diabetic ketoacidosis, long-term microvascular and macrovascular complications.

Juvenile Polyposis Syndrome

  • Definition: Rare hereditary disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract.

  • Clinical Features: Rectal bleeding, anemia, abdominal pain, prolapse of polyps.

  • Investigations: Colonoscopy, genetic testing (SMAD4, BMPR1A).

  • Management: Endoscopic polypectomy, surveillance for malignancy, surgery if polyps extensive.

  • Complications: Increased risk of gastrointestinal cancer in adolescence/adulthood.

Junctional Epidermolysis Bullosa

  • Definition: Severe inherited skin disorder causing blistering due to mutations affecting hemidesmosomal proteins.

  • Clinical Features: Fragile skin, blistering at trauma sites, mucosal involvement, nail dystrophy.

  • Investigations: Skin biopsy with immunofluorescence, genetic testing.

  • Management: Wound care, infection prevention, nutritional support; multidisciplinary approach.

  • Prognosis: High morbidity, variable depending on subtype.

Juvenile Myoclonic Epilepsy (JME)

  • Definition: Common idiopathic generalized epilepsy presenting in adolescence.

  • Clinical Features: Myoclonic jerks (morning predominance), generalized tonic-clonic seizures, sometimes absence seizures.

  • Investigations: EEG: generalized 4–6 Hz polyspike-and-wave discharges.

  • Management: Antiepileptic drugs: valproate, levetiracetam; avoid abrupt withdrawal.

  • Prognosis: Lifelong condition, good response to therapy.

Jaundice in G6PD Deficiency

  • Definition: Hemolytic jaundice triggered by oxidative stress in children with glucose-6-phosphate dehydrogenase deficiency.

  • Triggers: Infection, certain drugs (sulfonamides, antimalarials), fava beans.

  • Clinical Features: Pallor, jaundice, dark urine, fatigue.

  • Investigations: CBC (anemia, reticulocytosis), G6PD enzyme assay.

  • Management: Avoid triggers, supportive care, transfusions if severe.

Juvenile Huntington Disease (Rare)

  • Definition: Rare early-onset form of Huntington disease, autosomal dominant.

  • Clinical Features: Chorea, dystonia, cognitive decline, psychiatric symptoms.

  • Investigations: Genetic testing (HTT gene CAG repeat expansion), MRI brain.

  • Management: Symptomatic: antipsychotics for behavioral issues, physiotherapy, supportive care.

  • Prognosis: Progressive neurodegenerative disease, shorter survival than adult-onset Huntington.

Junctional Tachycardia (Pediatric Cardiology)

  • Definition: Rare arrhythmia originating from the AV junction; can be congenital or post-surgical.

  • Clinical Features: Palpitations, dizziness, syncope, sometimes heart failure in infants.

  • Investigations: ECG (narrow QRS, abnormal P-wave morphology), Holter monitoring.

  • Management: Antiarrhythmic medications (amiodarone, beta-blockers), catheter ablation in refractory cases.

  • Prognosis: Often controllable with treatment; monitoring for recurrence essential.

 

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