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)

A syndrome of subacute respiratory distress, severe metabolic bone disease affecting the thoracic cage, and mild cholestasis occurred in 4 small preterm infants during the first three months of life and was associated with considerable morbidity. The early radiological features in the chest resembled thos of the Mikity-Wilson syndrome, with which the disorder may be confused. After spontaneous improvement in hepatic function 3 of the infants fully recovered. The fourth died of paralytic ileus. Various nutritional and absorptive abnormalities probably contribute to the pathogenesis of the bone disorder in this syndrome. The best prophylaxis might be to supplement the diet with 25-hydroxyvitamin D rather than native vitamin D.
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PMID:Rachitic respiratory distress in small preterm infants. 86 Aug 72

A total body plethysmograph is descirbed which was used to study thoracic gas volume (TGV) in infants and young children from birth to 2 1/2 years, and was suitable for use even in very sick babies. Normal TGV values were obtained in 42 studies of 35 healthy infants and young children, and 16 children with abnormal lung volume are described. TGV correlated well with length, weight, chest circumference, and age in the healthy infants. A low TGV was found in children with respiratory difficulties after cardiac and thoracic surgery, in respiratory distress syndrome of the newborn, and in association with pulmonary infection and chest cage abnormalities. Abnormally high TGV was most frequently seen in infants with small airways disease.
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PMID:Thoracic gas volume in early childhood. 100 92

Asphyxiating thoracic dystrophy (ATD) is a rare case of autosomal recessive disease. We report a case of full term female infant, who was noted to have small chest cage with severe respiratory distress soon after birth. On physical examination. The chest wall was fixed and small with the narrowest circumference about 29 cm in size, general cyanosis and distended abdomen were noted, there was a umbilical hernia around 1 cm in diameter. Otherwise, no other gross anomalies were found. Radiologic studies revealed short and horizontal ribs, small lung volume but depressed diaphragm, the clavicles and the spine were normal. The abdomen and long bone series all showed negative findings. The patient died of respiratory failure at 18 hours after birth. Autopsy was documented as a case of ATD. According to family history, there was one sibling die in the similar condition, although no autopsy available. Because the disease is transmitted as autosomal recessive trait, so 25% of next sibling will get the same condition. Therefore genetic consulting is necessary.
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PMID:[Asphyxiating thoracic dystrophy: a case report]. 217 59

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

In general, fractures of the sternum are of little interest. This is unfair since unstable fractures may be the cause of paradoxical respiration and hence respiratory distress. Fractures often result from automobile accidents and occur in passengers wearing seat belts. In these circumstances, the seat belt in fact replaces the steering wheel as the causative agent. With reference to several cases this variety of injury is studied from the anatomo-pathological, clinical and therapeutic viewpoints. Osteosynthesis using a plate and screws limited to the sternum or including neighbouring rib fractures would appear to be the method of choice. Surgical fixation of the fracture site, the methods of which are discussed, is of value for both isolated lesions of the thoracic cage, and also in the context of single stage surgery in certain patients with multiple trauma.
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PMID:[Anatomoclinical forms of fractures of the sternum. Role and methods of osteosynthesis of unstable fractures]. 280 26

We studied prospectively 26 young patients with achondroplasia to test two hypotheses: that respiratory problems may be the result of occult spinal cord compression, and that achondroplastic patients with cord compression might have occult respiratory abnormalities. Respiratory abnormalities were present in 85%, the majority caused by a primary problem of the pulmonary system, such as small thoracic cage or obstructed airway. Three patients had hypoxemia, recurrent cyanotic spells, and episodes of respiratory distress explainable only by cervicomedullary cord compression; in each patient, respiratory problems were alleviated by decompressive surgery. Another six patients with cervicomedullary compression had, in addition, at least one primary pulmonary cause of respiratory problems. After decompressive surgery the respiratory problems improved in three and were unchanged in three. Reconstructed sagittal CT images proved the most sensitive technique for detecting craniocervical stenosis as a cause of cervicomedullary cord compression, although some degree of stenosis was present in nearly all of the patients.
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PMID:Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. 355 99

The clinical and pathological features of oligohydramnios associated with severe pulmonary hypoplasia are described in 10 infants without renal anomalies. In 8 patients the condition was associated with prolonged premature rupture of the membranes at 16 and 36 weeks of gestation in a study of 244 patients (3.3%). Seven of the infants died of respiratory failure within 24 hours of delivery; the other infant survived. In the remaining 2 patients with severe oligohydramnios at term, but unassociated with premature rupture of the membranes, both infants succumbed. Problems with resuscitation should be anticipated in pregnancies complicated by prolonged leakage of amniotic fluid or oligohydramnios, and pulmonary hypoplasia should be recognized as a cause of respiratory distress. Apart from the ultrasonic predelivery confirmation of normal kidneys to exclude Potter's syndrome it is recommended that ultrasonic assessment of thoracic cage volume should be made before delivery.
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PMID:Premature rupture of the membranes, oligohydramnios and pulmonary hypoplasia. 694 54

A case of severe secondary hyperparathyroidism and congenital rickets in a preterm infant is described. Extensive demineralization of the bones and deformation of the rib cage caused fatal respiratory distress. The severity of the case is attributed to the combination of idiopathic hypoparathyroidism and nutritional vitamin D deficiency in the mother.
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PMID:Congenital hyperparathyroidism and rickets: secondary to maternal hypoparathyroidism and vitamin D deficiency. 719 65

An infant born with multiplex congenita (Larsen's) syndrome developed respiratory distress 30 days following tracheostomy for relief of upper airway obstruction. The infant had structural and functional abnormalities of the thoracic cage. Tracheobronchoscopy revealed excessive compliance of the trachea with a tendency for collapse of the tracheal rings and obliteration of the tracheal lumen. Continuous positive airway pressure in the range of 20-25 cm H2O was used to maintain patency of the tracheal lumen and assure adequate ventilation. Hemodynamic and pulmonary barometric complications often observed when high levels of positive airway pressure are utilized in infants were not observed.
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PMID:Tracheomalacia in an infant with multiplex congenita (Larsen's) syndrome. 727 Nov 38

The cerebro-costo-mandibular syndrome is characterized by cerebral maldevelopment or malfunction or both, costal deficiencies, and micrognathia. Cleft palate and glossoptosis are frequently present and contribute to the common presenting sign, neonatal respiratory distress. Intrauterine and postnatal growth retardation are common. Familial cases are rare and the mode of transmission is uncertain. The deficiencies in the posterior portion of affected ribs are the sine qua non for diagnosis; roentgenographic confirmation is required. Since the first description of this pattern of prenatal growth defect in 1966, 19 patients who fulfill the criteria for diagnosis have been reported. We present three additional cases, one of which includes roentgenographic-pathologic correlations, and summarize the combinations of features present in previously described cases. Pulmonary complications incident to lack of thoracic cage support result in poor prognosis for survival.
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PMID:Cerebro-costo-mandibular syndrome. 741 3


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