Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The medical records of 114 infants with abdominal wall defects, including 35 infants examined at autopsy, were reviewed to determine if giant (liver-containing) defects are associated with a narrow thoracic cage deformity and pulmonary hypoplasia. The study included 48 infants with gastroschisis, 60 with omphalocele, two with a lower midline syndrome (cloacal exstrophy) and four with an upper midline syndrome (Cantrell's pentalogy). A giant abdominal wall defect was present in 33 infants, including one with gastroschisis, 27 with omphalocele, two with a lower midline syndrome, and three with an upper midline syndrome. A thoracic cage deformity, characterized by a narrow chest and down-slanting ribs, was identified radiographically in 42% (14 of 33) of infants with giant abdominal wall defects. Among the 35 infants examined at autopsy, 14 infants with giant omphaloceles had mean chest circumference to occipital frontal circumference ratio and lung weight to body weight ratios that were significantly below the means for infants with gastroschisis or small omphalocele. Lung weight to body weight ratios indicated marked pulmonary hypoplasia in three of 12 (25%) of infants who had a narrow thoracic cage deformity, and radial alveolar counts indicated mild pulmonary hypoplasia in four additional infants. Prematurity (four infants), diaphragmatic abnormalities (seven infants), and congenital heart disease (four infants) potentially contributed to the respiratory distress experienced by these 12 infants. Infants with giant abdominal wall defects and narrow thoracic cages are at increased risk for pulmonary hypoplasia and respiratory distress.
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PMID:Pulmonary hypoplasia in infants with giant abdominal wall defects. 271 98

Recombinant human erythropoietin (rhEPO) has now been approved for the treatment of renal anemia, anemia of prematurity, cancer-associated anemia, AIDS-associated anemia and as concomitant treatment for patients with or without autologous blood donation awaiting elective surgery. The purpose of this review is to provide an overview, based on the results of controlled studies, of the anticipated safety profile of rhEPO in various indications and to assess whether treatment with rhEPO influences the incidences of certain adverse events in these indications. The anticipated adverse events differ from indication to indication and generally reflect the corresponding underlying illness. With most indications, no relevant differences in the incidences of adverse events are observed between rhEPO and placebo-control/patients. Only in the rhEPO therapy of renal anemia is an increased incidence of hypertensive events observed in the rhEPO groups, a finding that is not reproduced with the other indications. The controlled studies forming the basis of this review provide no evidence of a relevant increase in the risk of thromboembolic events during rhEPO therapy. Overall, it may be stated that rhEPO treatment, where strictly indicated, is a safe form of therapy. As with any other treatment, the risk of side effects in certain predisposed patients must also be weighed against the desired clinical benefits.
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PMID:The safety of treatment with recombinant human erythropoietin in clinical use: a review of controlled studies. 985 32

Achondroplasia is a rare disorder occurring 1 in 1 5,000 to 1 in 40,000 live births. It is, however, the commonest cause of short-limbed dwarfism. It is a genetic disorder and inherited as an autosomal dominant trait but most cases (80%) are due to mutations of fibroblast growth factor receptor 3 (FGFR3). These individuals have normal mental and sexual development, and life span may be normal. Certain gynaecological problems like infertility, menorrhagia, dysmenorrhoea, leiomyomata and early menopause are more common in these patients. Information regarding obstetric behaviour in achondroplastic females is scarce in literature. However, problems such as pre-eclampsia, polyhydramnios, respiratory compromise, contracted pelvis necessitating lower section caesarean section, prematurity and foetal wastage, etc, have been reported. General anaesthesia is preferred to regional anaesthesia because of the spinal abnormalities. There is increased neonatal mortality due to hydrocephalus and thoracic cage abnormality. Such a patient is considered high risk in terms of anaesthesia and obstetric outcome and there is enough room for prenatal counselling and diagnosis. Here a case of achondroplasia with pregnancy is reported. The patient, an achondroplastic dwarf presented with 30 weeks pregnancy. She was prenatally screened with ultrasonography to rule out affection in baby. She had a caesarean section for contracted pelvis.
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PMID:Pregnancy in an achondroplastic dwarf: a case report. 1649 57