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 young man with severe multiple injuries following a motorcycle accident was admitted with head and mandible fractures, coma, fracture dislocation at C5-C6 resulting in total leg paralysis, partial paralysis of the right arm and intercostal muscles, and closed chest injury with possible pulmonary contusion. On the fourth day he developed fulminating mediastinitis and massive empyema, and was found to have a ruptured esophagus. Recovery became possible with surgical drainage of the pleural cavity and mediastinum, proximal and distal decompression of the esophagus, antimicrobial therapy, irrigation of the pleural cavity, complete intravenous hyperalimentation, and infusions of salt-poor albumin. The patient was discharged after 95 days, and 7 months after injury is neurologically intact except for a partial right wrist drop. This rare esophageal rupture should be suspected in any chest injury patients, especially those characterized by extreme cyanosis, dyspnea, shock, and prostration incompatible with thoracic cage injury.
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PMID:Rupture of the thoracic esophagus from blunt trauma. 59 47

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

Two infants with clinical and radiologic features of metatropic dwarfism presented in the neonatal period with episodes of cyanosis. Diagnostic studies to determine the etiology of these spells, including electrocardiogram, electroencephalogram, arterial blood gases, and metabolic and sepsis studies, were unremarkable. Chest roentgenograms revealed the characteristic long, narrow thoracic cage with no evidence of parenchymal disease. Cervical spine stability evaluation, pulmonary function studies, and chest impedance monitoring with qualitative air flow thermistor studies and transcutaneous oxygen monitoring were carried out. Both patients demonstrated a significant increase in resistance of the respiratory system following passive maneuvering of the head from a neutral position, suggestive of hypopharyngeal air flow obstruction. Obstructive sleep apnea resulting in cyanosis was documented in both patients. All other studies failed to yield a cause for the episodes of cyanosis. Our investigation failed to alter the clinical course which resulted in respiratory arrest and death by 7 months of age. A table is presented for the differentiation of skeletal dysplasias presenting in the perinatal period.
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PMID:Respiratory complications of metatropic dwarfism. 401 1

Inspection of the thorax identifies the breathing position adopted by the patient, the shape of the thorax, the dynamics of respiration (breathing pattern, symmetry of expansion, mechanics and synchrony of rib cage and abdominal movements). Inspection of the neck adds useful information, particularly with respect to the dynamics of breathing. Palpation ascertains the signs suggested by inspection with respect to the mechanics of breathing. It also assesses the state of the pleura and pulmonary parenchyma by studying the tactile fremitus. It integrates extrarespiratory signs, such as enlarged lymph nodes or breast abnormalities. Extrathoracic respiratory signs should also be systematically looked for, including cyanosis, finger deformation, pulsus paradoxus, and pursed lips breathing. Interobserver agreement about respiratory signs has repeatedly been studied, and generally found to be low, as are clinical-functional correlations. However, some data on chronic obstructive pulmonary disease (COPD), asthma or pulmonary embolism are available. From the description of some signs and the current knowledge about their operative values, it appears that much clinical research remains necessary to better define the precise diagnostic value of a given sign. The impact of training on diagnostic performance also has to be defined. Both of these aspects should allow clinicians to optimize the way in which they use their hands and eyes to conduct respiratory diagnosis, as well as the way they teach respiratory symptomatology.
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PMID:Physical examination of the adult patient with respiratory diseases: inspection and palpation. 857 88

A total of 18 patients with severe motor and intellectual disabilities are reported, including 17 identified as having tracheomalacia (TM) by bronchofiberscopy and 1 suspected case. The clinical backgrounds, bronchoscopic findings, managements and outcomes of these patients were studied. The ages ranged from 2 to 41 years old (mean : 22.8 years). Fourteen patients had cerebral palsy and 4 had other neuromuscular diseases. More than 80% of the patients had flattening of the thoracic cage, scoliosis, and recurrent respiratory infections. Bronchofiberoptic videoscopy revealed a mean 73.6% narrowing of the trachea, and 3 cases had 100% obstruction. The crescent type and a newly identified flat type of TM were observed, but there was no saber-sheath type. Attacks of cyanosis and transient or sudden respiratory difficulties were important symptoms for TM in 13 cases. TM may cause sudden death in these patients. Tracheostomy may be recommended for severe cases with TM. An adjustable tracheostomy tube improved the narrowing of the trachea significantly in 6 cases. Bronchofiberoptic videoscopy is nessesary for accurate evaluation of TM and an adjustable tracheostomy tube may be useful for selected patients.
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PMID:[Tracheomalacia in patients with severe motor and intellectual disabilities]. 1629 55

Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cases have heterozygous de novo mutations in the coding region of the transcription factor gene SOX9 (SRY-related high-mobility group [HMG] box 9) in chromosome 17q. Here, we report a novel mutation of SOX9 in a female neonate with CD with autosomal sex reversal. Respiratory distress and cyanosis were noted at birth, and endotracheal intubation with mechanical ventilation was performed due to respiratory failure. The presenting phenotypes included dysmorphic face with macrocephaly, prominent forehead, low nasal bridge, cleft palate and micrognathia. Skeletal deformities characteristic of CD were observed, including narrow thoracic cage, hypoplastic scapulae, scoliosis and short limbs with anterolateral femoral and tibial bowing. The karyotype was 46,XY despite female external genitalia. SOX9 gene analysis revealed frameshift mutation (at nucleotide position 1095G-->AT) in the open reading frame, resulting in a frameshift with 211 new amino acids.
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PMID:Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. 1718 44

The superior vena cava (SVC) syndrome occurs when obstruction of this vessel interrupts venous return of blood from the head, upper extremities and thorax to the right atrium. Most cases of SVC syndrome result from neoplasia, especially from lung cancer, but other non-cancer-associated causes may include fibrosis caused by radiotherapy, collagen-vascular diseases, arteriovenous shunts or thrombosis as a complication of use of central venous catheters or devices. We report here the case of a 60-year-old woman with non-small cell lung cancer who was treated, after three lines of chemotherapy, with the epidermal growth factor receptor inhibitor erlotinib and subsequently presented to the hospital with abrupt onset of syncope, shortness of breath and cyanosis (face, neck and trunk). A CT scan of the chest demonstrated a massive thrombosis of both brachiocephalic veins and the SVC. The patient was treated with the systemic thrombolytic agent urokinase, with resolution of the clinical picture and no bleeding complications. The possible pathogenetic causes of thrombosis of the brachiocephalic veins and SVC syndrome in this case are discussed. It is possible that acute thrombosis may be associated with erlotinib use, even if it is likely that cancer may be the main cause of the thrombotic complication.
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PMID:Massive thrombosis of brachiocephalic veins and superior vena cava syndrome in a patient with non-small cell lung cancer treated with the epidermal growth factor receptor inhibitor erlotinib. 1756 30

A 30-year-old female with a history of seizure disorder and hypoplastic left heart syndrome treated with a Norwood procedure in 1986 followed by a modified non-fenestrated Fontan (Left SVC to IVC to pulmonary arteries) with a known baffle leak presented to the emergency department. On day of presentation, the patient became unresponsive, with perioral cyanosis, rightward gaze and a left facial droop near the end of a platelet transfusion. An emergent non-contrast head CT revealed intracranial air in the right MCA distribution. She was taken to the hyperbaric chamber and was treated with a U.S. Navy Table 6 in a multiplace chamber with no extensions. Ten minutes into the treatment patient became more alert and spontaneously asked questions. The following day she was treated with a U.S. Navy Table 5. Patient had repeat CT of the head, which showed resolution of intracerebral gas and small areas of ischemia in right frontal lobe and right caudate. On hospital day five neurologic exam was normal, with 5/5 strength and no residual deficits. Treating the patient was a concern because patient has a single ventricle, in which the pulmonary artery is connected directly to the vena cava. There is very little data regarding the effects of hyperbaric oxygen (HBO2)therapy on single-ventricle physiology. Only two case reports of three pediatric patients treated with HBO2 for CAGE in a similar setting are known. In these cases the patients had improvements in their symptoms following HBO2. These cases and ours indicate HBO2 is feasible and indicated for CAGE in patients with cyanotic congenital heart disease.
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PMID:Cerebral arterial gas embolism in a patient with hypoplastic left heart syndrome treated with emergent hyperbaric oxygen: case report. 3293 69