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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The long term neurodevelopmental outcome was assessed in 23 survivors born with congenital diaphragmatic hernia who had been managed by an elective delay in surgical repair after a period of stabilisation. This cohort was treated in one neonatal surgical unit between 1983 and 1989 by a single team of surgeons and anaesthetists. All children underwent comprehensive neurological, developmental, and anthropometric assessment at a mean age of 56 (range 18-94) months. Two children (9%) had major disability (one with hemiplegia and one with a lower limb monoplegia) and two further children had minor disabilities (one had partial sightedness and squint, the other squint only). The mean developmental quotient (DQ) for the group was 108 (SD 10.8) and none had developmental delay (defined as DQ < 70). Infants who had spent more time in hospital, or had had a longer duration of ventilation, tended to have lower weights and lower occipitofrontal circumference centiles in later childhood. Preoperative stabilisation and delayed surgery for congenital diaphragmatic hernia is not associated with an impaired neurodevelopmental outcome.
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PMID:Delayed surgery for congenital diaphragmatic hernia: neurodevelopmental outcome in later childhood. 128 72

In the 6 years before this paper, all children presenting with end-stage renal failure (ESRF) in Northern Ireland were electively commenced on continuous ambulatory peritoneal dialysis (CAPD). In that period, 22 patients were treated, 16 received renal transplants and 6 remained on CAPD. Active treatment was withdrawn in 1 child due to obliterative peritonitis. There were no deaths. One incident of peritonitis was documented per 11.6 patient treatment months. Recurring peritonitis lead to catheter replacement in 3 patients. Other problems encountered were catheter exit site infections, hernia formation and in one instance, hydrothorax. Peritonitis was more common in children under 2 years of age as was undernutrition, growth retardation and developmental delay. Home CAPD can be recommended as a viable first option treatment for childhood ESRF where suitable haemodialysis facilities are not easily accessible.
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PMID:Efficacy of CAPD as the primary treatment for end-stage renal failure in children. 147 95

To assess the validity of the currently accepted lower weight limit of 2 kg for treatment of neonates with extracorporeal membrane oxygenation (ECMO), we reviewed the outcome of lower birth weight (2.0 to 2.5 kg, n = 29) and higher birth weight (n = 235) for infants treated with venoarterial ECMO at our institution from 1984 through 1990. Newborn infants with congenital diaphragmatic hernia were not included. The mortality rate was significantly greater after venoarterial ECMO in lower than in higher birth weight infants (relative risk 3.45; confidence interval = (1.68, 5.79)). For infants with the diagnosis of respiratory distress syndrome, the mortality rate was 56% (5/9) for lower and 8% (2/25) for higher birth weight infants (p less than 0.01). The most frequent cause of death in lower birth weight infants was intracranial hemorrhage (7/10 deaths). The overall incidence of any neuroimaging abnormality was significantly greater for lower birth weight infants (p = 0.044), primarily because of the higher incidence of major intracranial hemorrhage. Finally, the risk of developmental delay (development quotient less than 70 at 1 to 2 years of age) among survivors available for follow-up was significantly higher among the lower than the higher birth weight infants. These outcome data suggest that further reduction of the current lower weight limit for ECMO should not become standard without prospective research or technologic advances.
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PMID:Mortality and morbidity rates among lower birth weight infants (2000 to 2500 grams) treated with extracorporeal membrane oxygenation. 151 25

Fifty-eight patients with occipital encephalocoeles were retrospectively examined. These comprised about one-half of the cases seen and evaluated for treatment at the University College Hospital, Ibadan, Nigeria, between January 1973 and December 1987. There was a female-to-male preponderance of 2:1. Of the patients 91% were treated during infancy. Only one patient was precluded from surgery because his large ulcerated lesion was associated with severe microcephaly and neonatal sepsis, to which he succumbed. About four-fifths of the lesions exceeded 5 cm in diameter. The operative mortality was 6%, all deaths occurring in patients who were neonates at the time of surgery and whose hernia sacs contained brain substance. Clinically apparent hydrocephalus was more frequently encountered postoperatively, than preoperatively. Developmental delay was apparent in 5 of the 13 patients in whom developmental milestones were assessed during follow-up. For most patients, the follow-up period was short, possibly a reflection of the poor prognosis of the disease.
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PMID:Occipital encephalocoeles in 57 Nigerian children: a retrospective analysis. 234 May 37

We studied two cases of beta-glucuronidase deficiency. One patient's disease was present at birth and the other patient's disease appeared in early childhood. The symptoms observed in both patients, although of differing severity, included peculiar facies, cloudy cornea, hepatosplenomegaly, hernia, kyphosis, recurrent infections, short stature, and developmental delay, as well as increased excretion of urinary chondroitin sulfate A/C and decreased levels of beta-glucuronidase activity. We reviewed all of the reported cases and examined the biochemical and clinical heterogeneity observed in this disorder.
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PMID:Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis. 315 9

In a 15-year period, 89 newborns were treated for congenital diaphragmatic hernia. The patients were divided into three groups, depending on postoperative therapeutic support available: group 1, ventilator therapy only; group 2, ventilator therapy plus pulmonary vasodilators (tolazoline hydrochloride); and group 3, ventilators, tolazoline, and/or extracorporeal membrane oxygenation (ECMO). The three groups were identical for presenting symptoms, signs, and preoperative blood gas determinations. The survival for each group was as follows: group 1, 17 (40%) of 42; group 2, 14 (45%) of 31; and group 3, 12 (75%) of 16. Complications requiring further operations were identical. All survivors in groups 1 and 2 are normal developmentally, while one of five group 3 ECMO survivors has developmental delay and another has long-term ventilator dependence. These data suggest that ECMO, an invasive technique for newborn respiratory failure, improves survival in congenital diaphragmatic hernia.
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PMID:Neonatal diaphragmatic hernia. An improving outlook with extracorporeal membrane oxygenation. 355 10

During a national survey of Hunter's syndrome, 52 boys with the severe form were ascertained. The average ages of onset and death were 2.47 and 11.77 years respectively. Most patients had a large head and short stature. Persistent diarrhoea was noted in 65 per cent of the patients. 76 per cent had an umbilical hernia. Right and left inguinal herniae were noted in 51 and 32 per cent respectively. Evidence of cardiovascular disease was found in 65 per cent of cases; and serious lower respiratory-tract disease occurred in 84 per cent. Induction of anaesthesia proved difficult or impossible in five boys. The disease pattern was dominated by the effects of neurological involvement, with initial developmental delay and behavioural disturbance, followed by regression, with convulsions and pyramidal tract signs. Death was due primarily to this neurodegenerative cachexia, with superimposed respiratory disease.
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PMID:The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. 641 86

Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic hernia and multiple anomalies. Almost all infants have died at birth, and survivors have had severe mental retardation. The authors report on a family in which three children had diaphragmatic hernia diagnosed prenatally. The first child died of severe pulmonary hypoplasia in the neonatal period. The second survived after diaphragmatic hernia repair, and was found to have Fryns syndrome based on the spectrum of associated anomalies and the family history. He has done well except for significant gastroesophageal reflux, mild developmental delay, and mild hypotonia. The third child's diaphragmatic hernia was diagnosed early during fetal life, and the parents chose to terminate the pregnancy. These cases illustrate the spectrum of Fryns syndrome and the importance of a family history in patients with congenital diaphragmatic hernia. This is the first report of survival of a patient with Fryns syndrome without severe mental retardation.
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PMID:Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. 780 64

The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.
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PMID:Cerebral malformations in Carpenter syndrome. 835 58

A 4-year-old mentally retarded girl had congenital depigmentations of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle. Cytogenetic investigations revealed deletion of chromosome 4 for the long arm segment q12-q21. The typical depigmentations, reported in four other patients with a similar chromosomal deletion, correspond with those in the autosomal dominant piebald trait. Mutations in the Kit protooncogene (mapped to the chromosome (4q11-4q12 region) have been found in patients affected with this dominant disorder. Piebaldism in children with developmental delay and dysmorphic features should alert the physician to the possibility of a deletion of the long arm of chromosome 4.
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PMID:Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4. 841 99


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