Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

High frequency oscillatory ventilation (HFOV) was attempted in ten infants with severe respiratory failure not responding to conventional ventilation (CV); it was, therefore, used as a rescue measure. HFOV was successful in improving the respiratory status of seven infants, all with hyaline membrane disease (HMD). Five of these infants survived, of the remaining two, one died of massive peri/intra-ventricular haemorrhage and the other of cholestasis associated with total parenteral nutrition. It was unsuccessful in three infants, one with meconium aspiration, the second died within two hours commencing HFOV and the third with severe depression and hypotonia.
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PMID:High frequency oscillatory ventilation in neonates with respiratory distress. 188 79

A sporadic case of the rare and most severe neonatal form of nemaline myopathy is reported. Intrauterine manifestation included reduced fetal movements and breech position with a normal amount of amniotic fluid. After delivery by Caesarian section at 34 weeks of gestation the infant boy, who was not asphyctic, failed to establish spontaneous breathing and required immediate intubation and ventilation. Marked muscular hypotonia and weakness persisted and reflexes remained absent. Hip dislocation, joint contractures, absent palmar creases, prominent lateral palatal ridges and cryptorchidism were interpreted as consequent to prenatal paralysis. The boy died after 5 h due to hyaline membrane disease and meconium aspiration. At autopsy the skeletal muscles were found to be hypoplastic. The muscle fibres contained numerous rods, a typical finding of nemaline myopathy. Nemaline myopathy should be considered in fetuses and newborns with multiple joint contractures, severe muscular weakness and respiratory insufficiency.
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PMID:Neonatal nemaline myopathy presenting with multiple joint contractures. 241 8

A patient with partial duplication 2q and partial deficiency 11q is reported. The propositus was delivered at 30 weeks gestation, with a birth weight of 1,390 g. He had severe hyaline membrane disease, intraventricular hemorrhage, bronchopulmonary dysplasia, hypotonia, psychomotor retardation, hearing loss, and other anomalies including a short bitemporal diameter, prominent occiput, low-set ears, exophthalmos, short nose with depressed nasal root, downturned mouth corners, narrow high-arched palate, micrognathia, a deep longitudinal groove over the sacrococcygeal region, clinodactyly, and abnormal dermatoglyphics. Chromosome analysis showed the following karyotype: 46,XY,der11,t(2:11)(q32.2;q25)pat.
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PMID:A patient with partial duplication 2q and partial deficiency 11q. 332 8