Cystic Fibrosis (CF) is a multisystem disorder caused by mutations in the gene for the CF transmembrane conductance regulator (CFTR), which encodes an ion channel protein, with more than 2000 mutations identified to date. A diagnosis of CF initially relied on phenotype, with clinical recognition of characteristic signs and symptoms. Continue reading
The Apgar score provides an accepted and convenient method for reporting the status of the newborn infant immediately after birth and the response to resuscitation if needed. Continue reading
Retinopathy of prematurity is a vision-threatening disease associated with abnormal retinal vascular development that occurs only in premature infants.
In unconjugated hyperbilirubinemia, the ultimate goal is the prevention of kernicterus and its potentially devastating effects.
Phototherapy represented an important advance in the treatment of jaundice, enabling the effective and relatively rapid reduction of high bilirubin levels and facilitating the prevention of kernicterus.
Exchange transfusion is the only alternative to phototherapy for controlling hyperbilirubinaemia.
Criteria for Chronic Respiratory Failure due to Cardiopulmonary Disorders in Infants and Children
- Decreased inspiratory breath sounds
- Increased retractions, use of accessory muscles
- Cyanosis breathing room air
- Decreased level of normal activity/function
- Poor weight gain (mass) (IMPORTANT)
The diagnosis of cystic fibrosis is based on clinical signs and symptoms consistent with the disease and objective evidence of cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction.
One or more typical phenotypic features of CF:
Chronic sinopulmonary disease
Characteristic gastrointestinal and nutritional abnormalities
Salt loss syndromes
Clinical and laboratory “low risk” criteria for children younger than 3 months with fever and no focus of infection
- Born at term (gestational age >/= 37 weeks)with uncomplicated nursery stay
- Previously healthy infants
- Notoxic manifestations
- No focal bacterial infection (except otitis media) Continue reading
Necrotizing enterocolitis is among the most common and devastating diseases in neonates. The excessive inflammatory process initiated in the highly immunoreactive intestine in necrotizing enterocolitis extends the effects of the disease systemically, affecting distant organs such as the brain and placing affected infants at substantially increased risk for neurodevelopmental delays.
Male or female patient with reduced numbers of CD3+ T cells (less than 500/mm3) and two of the three following characteristics: