Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Of 99 children in the Royal Blind School, Edinburgh (which serves Scotland and part of N E England), 15 had optic atrophy (hydrocephalus 4, intracranial haemorrhage 2, prematurity 2, fetal distress 2, birth asphyxia 2, cerebral atrophy 1, cardiac arrest during hernia operation 1, and leukaemia 1). Fourteen had congenital cataract, 12 congenital retinal aplasia (Leber's congenital amaurosis) and 11 retinopathy of prematurity. There were small numbers in many other diagnostic categories, including three with non-accidental head injury. Mental retardation, spasticity, and nystagmus were frequent other correlates in all diagnostic categories. 'Very probably hereditary' was a conservative attribution in 36, while 'probable' seemed appropriate for 12-that is, almost 48% were hereditary. Only about 11 cases might have been prevented through genetic counselling, which testifies to the frequency of autosomal recessive hereditary disease, although no parents were consanguineous.
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PMID:Blindness in schoolchildren: importance of heredity, congenital cataract, and prematurity. 365 73

Medical problems associated with prematurity are frequently complex, and a multidisciplinary approach is often required. Some common problems include the following: (1) anemia, which can be reduced by iron supplementation, (2) cerebral palsy or mental retardation as a result of intraventricular hemorrhage or periventricular leukomalacia, (3) respiratory problems, including bronchopulmonary dysplasia and apnea, (4) visual problems, such as those associated with retinopathy of prematurity, (5) gastroesophageal reflux and (6) surgical problems, including inguinal or umbilical hernia and cryptorchidism. Monitoring of growth and development includes recording the infant's head circumference, weight and length on a growth chart for premature infants. Nutritional status should be assessed at each visit, watching for hyperosmolar problems in infants receiving high-calorie formulas. Consultation with other specialists may be required if abnormalities are identified during follow-up care in the office.
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PMID:Office care of the premature infant: Part II. Common medical and surgical problems. 961 10

Congenital Diaphragmatic Hernia (CDH) occurs in one of every 2000-3000 births, and most of them are sporadic, and therefore recognized as a circumstantial event. But its occurrence in 85 children among the 40 families is also reported, and some reports suggest that an autosomal recessive gene may be responsible for this disease. We experienced identical twins (babies A and B) both with prenatally diagnosed CDH. They were delivered by emergent cesarean section at 33 weeks of gestation with birth weight of 1857 g and 1561 g, respectively. They were intubated immediately after birth, and ventilated with high frequency oscillation. Baby A presented persistent pulmonary hypertension of newborn, and received nitric oxide inhalation. At the age of 2 days, both of them were stabilized and underwent repair of CDH. After the repair, baby A developed perforation of ileum, airway bleeding and retinopathy of prematurity (ROP), and needed 28 days before extubation. Baby B also developed ROP, but had no other problem, and the trachea was extubated at the age of 12 days. They are the seventh pair reported in the world literature.
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PMID:[Perioperative management of twins with prenatally diagnosed congenital diaphragmatic hernia]. 1134 53

OBJECTIVE: To analyze and update information about surfactant therapy replacement in newborns with lung diseases. SOURCES: Literature review, including textbooks, meta-analyses, prospective, randomized controlled trials, retrospective assessments and case studies. Literature was reviewed based on the authors clinical and scientific experience regarding surfactant replacement therapy in neonatal lung diseases. SUMMARY OF THE FINDINGS: Surfactant replacement therapy for the neonatal respiratory distress syndrome improves respiratory function, and reduces the need for oxygen supplementation and pressure support ventilation, in addition to minimizing the air leak syndrome. However, the use of surfactant did not prevent the occurrence of other intercurrent diseases such as patent ductus arteriosus, intraventricular hemorrhage, necrotizing enterocolitis, retinopathy of prematurity, and bronchopulmonary dysplasia. The surfactant treatment decreased neonatal mortality up to 40%. The effectiveness of exogenous surfactant on other respiratory diseases with surface film dysfunction, such as meconium aspiration syndrome, pneumonia, acute respiratory distress syndrome and congenital diaphragmatic hernia has not yet been widely accepted. CONCLUSIONS: Surfactant replacement is now considered the standard treatment for newborns with respiratory distress syndrome. We hope that, in the future, new synthetic surfactant preparations will be more effective in treating other infant respiratory diseases.
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PMID:[Surfactant replacement therapy] 1467 88