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 female infant with features of Jeune's disease is described. The pertinent clinical features were a long, narrow trunk, dystrophic rib cage with respiratory distress, short limbs, and polydactyly. Radiographically, she had only 11 pairs of short ribs which were expanded and flared anteriorly. There was a positive history of consanguinity. It is believed that she might still be alive, although no follow-up was undertaken.
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PMID:Asphyxiating thoracic dystrophy (Jeune's disease): a case report. 805 71

The authors report 14 cases of fractured sternum operated upon in thoracic surgery at United Hospital in Foggia. Most of the ostheosynthesis of the sternum were done with two Patellar set sutures. The follow-up revealed good stabilization of the thoracic cage and good alignment of the fractured site. Postoperative respiratory distress was never noted, neither was thoracotomy ever required.
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PMID:[Simple, complete, and comminuted fractures of the sternum. Analysis of 14 cases with osteosynthesis]. 824 92

Spirometric parameters including forced vital capacity (FVC), forced expiratory volume in 1 s (FEV1) and various parietal parameters (superior and inferior rib cage and abdominal maximal expansion amplitudes) were measured in 65 ambulatory subjects aged over 75 years. The population was divided into three age groups: group 1: 75-79; group 2; 80-84, group 3: 85 and older. A marked decrease in clinical and spirometric results was observed between groups 1 and 2, and 1 and 3, but there was no difference between groups 2 and 3. Such findings might be attributed to a survival effect. There was a high correlation between the parietal parameters and FVC and FEV1. In clinical practice, this simple parietal assessment may be of value in the identification of elderly subjects at risk of acute respiratory distress.
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PMID:Lung function in advanced age: study of ambulatory subjects aged over 75 years. 831 93

Asphyxiating thoracic dystrophy or Jeune's syndrome is characterized by respiratory distress, osseus dysplasia and short stature. Kozlowski and Masel have described four groups: lethal, severe, mild and latent. The mild form is generally characterized by long, narrow thorax with a reduced thoracic cage capacity, short stature, sometimes short fingers, and progressive renal involvement. Differential diagnosis can be difficult in some cases with atypical clinical manifestations. The Authors report on two cases of the mild form of Jeune's syndrome in two sibs without renal involvement and respiratory distress.
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PMID:[Asphyxiating thoracic dysplasia or Jeune's syndrome. Description of 2 mild familial cases]. 905 96

Jeune syndrome is a rare autosomal recessive disease characterized by narrow thoracic cage and short-limbed dwarfism. Seventy percent of affected individuals die in early childhood from pulmonary hypoplasia and respiratory distress due to the small size of the thorax. Growth retardation and chronic renal insufficiency due to nephronophthisis may occur in patients who survive the respiratory failure. We report a family that exhibited clinically heterogeneous features of Jeune syndrome. The 6-year-old male proband presented with skeletal deformities and chronic renal failure. A kidney biopsy revealed that nephronophthisis was the cause of the patient's kidney failure, and we diagnosed Jeune syndrome. A retrospective diagnosis of Jeune syndrome was also established for the proband's older sister, who had died of renal failure at 8 years of age. The oldest female child in the family also had thoracic deformity, and the father and paternal uncle were both of short stature and exhibited brachydactyly. Their renal function and blood pressure were normal. The findings in this family are important in that they demonstrate the clinical heterogeneity of Jeune syndrome and underline the association of renal disease with this syndrome.
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PMID:A family with Jeune syndrome. 1151 90

Acampomelic campomelic dysplasia is a rare variant of campomelic dysplasia syndrome affecting bone and connecting tissue. This syndrome is implicated by the absence of bowed limbs. Affected children have a characteristically smooth facial profile and are born with respiratory distress. A 15 day old Turkish boy presented with a small flat face, dolicocephalic head, proptotic eyes, short neck, low-set ears and a small thoracic cage. Limbs were mesomelically short and bilateral talipes equinovarus was present. The radiological findings indicated hypoplastic scapulae, narrow ribs, small thorax, thin claviculaes, and small iliac wings. Angulation of the femur, tibia and humerus was not observed. Our case, suited to acampomelic campomelic dysplasia, is discussed with differential diagnosis and compared with previously reported cases of the syndrome.
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PMID:A case of acampomelic campomelic dysplasia. 1201 34

OBJECTIVE: To drive pediatrician's attention to a syndrome wwich has as its typical clinical presentation a thoracic cage abnormality which evolves to respiratory distress and death during the first two years of life.METHODS: We describe three cases of patients with clinical and radiographic findings characteristic of asphyxiating thoracic dystrophy (Jeune's Syndrome): short and narrow thoracic cage and abnormal development of the ribs. A brief review of the literature on the subject is also included.RESULTS: The three patients are older then two years of age. They did not present life threatening pulmonary complication nor respiratory distress, in contrast to most of the cases reported in the literature.CONCLUSIONS: Even though the number of occurrences of this syndrome is quite low, it must be consider when conducting a differential diagnostic related to thoracic cage abnormalities. It is important to emphasize the degree of variability of the pulmonary lesions and the progress of the disease. However, most articles on the subject point to a grim outcome.
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PMID:[Asphyxiating thoracic dystrophy: a report of 3 cases] 1468 15

Ceratothoa oestroides (Risso, 1826) (Isopoda: Cymothoida) is a protandric hermaphrodite parasite on a wide range of wild fish species. In recent years it has become a threat to cage-reared fish facilities, where high fish density provides optimal conditions for transmission. Its impact on fish health and economical gain is significant, varying from growth retardation and decreased immunocompetency to direct loss due to mass mortalities of juvenile fishes. Because of the sheltered location of the parasite in the buccal cavity of fishes, chemotherapeutics are ineffective. An understanding of the C. oestroides life cycle and its behavioral mechanisms could prove constructive tools for the prevention and control of infection. This study describes the reproductive cycle of C. oestroides experimentally induced in different fish hosts and temperature regimes. Sea bream larvae Sparus aurata and 1 yr annular sea bream Diplodus annularis were chosen as experimental models, and were held at 22 and 19.5 degrees C, respectively. The reproductive cycle of S. aurata was not completed within 4 mo (at which point the last larva died of severe anemia and respiratory distress), while that of the annular sea bream was completed successfully after 1 mo.
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PMID:Life cycle of Ceratothoa oestroides, a cymothoid isopod parasite from sea bass Dicentrarchus labrax and sea bream Sparus aurata. 1473 26

This report describes a case of a term male 3.1 kg, normal delivery, 38 weeks of gestation with a record of hydramnios by prenatal sonography. He had fetal acute suffering and respiratory distress. The first radiographic study showed a mass filling the whole left thorax cage causing erosion of the inferior edge of the third rib. The mediastinum was displaced to the right. Computed tomography scan confirmed a homogeneous tumor that filled the left thorax and displaced the mediastinum to the right without invasion. Surgical biopsy informed of a highly vascularized mesenchymal tumor. The tumor was embolized with Ivalon microparticles obtaining a nearly avascular mass. Complete surgical excision was made, including the whole mass and costal segments. Microscopically, it was an inflammatory myofibroblastic tumor. It was composed mainly of spindle-shaped cells without malignant features. On immunohistochemistry, the tumor showed positive staining for vimentin, whereas antidesmin antibodies and S-100 protein were negative. The aim of this article is to present an extremely uncommon case of neonatal distress caused by an intrathoracic, extrapulmonary myofibroblastic tumor. Complete surgical resection was possible after embolization.
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PMID:Myofibroblastic tumor causing severe neonatal distress. Successful surgical resection after embolization. 1599 Nov 66

Poland syndrome is an infrequent disease that presents in newborn infants and features an incidence of about one in 7,000 to one in 100,000 live births. The clinical features include an absence of the costosternal portion of the pectoralis major muscle, hypoplasia and/or aplasia of the ipsilateral breast or nipple, hypoplasia of subcutaneous tissue, abnormalities of the rib cage and upper extremity anomalies. We present a male newborn suffering Poland syndrome who featured a depressed left chest wall with respiratory distress. Ultrasonography of the chest revealed the absence of a section of pectoralis major muscle over the left chest wall, although no abnormality was found over the ipsilateral upper extremity. The patient was regularly followed up and showed no limitation to the range of motion of the left upper extremity at the age of four months.
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PMID:Poland syndrome in a neonate: report of one case. 1638 41


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