Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

One male and two female cases in a family of Machado-Joseph disease were reported. Two cases showed typical symptoms that are characterized by bulging eyes, ophthalmoplegia, dystonia, ataxia, spasticity of extremities and amyotrophy, and were consistent with Type II (Rosenberg et al). But another one lacked diversity of the symptoms, showing mainly progressive cerebellar ataxia for over 10 years. We pointed out the existence of a new type of MJD case exhibiting only progressive cerebellar ataxia over a long period. A female patient had dyspnea and insomnia after 20 years in her clinical course, and central sleep apnea was revealed by respiratory monitor. But, the apnea and irregular respiration appeared in both awake and sleep stages. We described the importance of attention to the apnea as a new complication of Machado-Joseph disease.
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PMID:[A family of Machado-Joseph disease with a patient having frequent apnea in all day]. 191 27

We present a direct anterior sternal split expansion as a surgical option for a case of severe Thoracic Insufficiency Syndrome (TIS) in an arthrogryposis-like patient. This patient's clinical features were published as a newly described syndrome: Adam Robert Wright Syndrome. The patient born with this syndrome displays characteristic craniofacial abnormalities, severe thoracic insufficiency syndrome, cleft palate, limb contractures, arthrogryposis, pulmonary hypoplasia, cryptorchidism, ophthalmoplegia and retinopathy, with normal intelligence. His severe thoracic insufficiency necessitated an urgent life-saving surgical intervention for a progressively worsening sleep apnoea and respiratory distress. We present a review of published data of sternal expansion thoracoplasty from 1965 to 2007 found in the literature. We demonstrate that direct anterior sternal split thoracoplasty with autogenous rib grafts is an effective technique for the acute management of thoracic insufficiency syndrome in this specific case. This procedure provided our patient with symptomatic benefit. To our knowledge, this is the only reported surgical management of thoracic insufficiency syndrome demonstrating a statistical improvement in chest wall compliance and tidal volume. We show that direct anterior sternal split expansion is a surgical treatment option in some patients with thoracic insufficiency syndrome. Our surgical strategy for the management of severe thoracic insufficiency syndrome in Adam Robert Wright Syndrome provided symptomatic relief and favourable long-term results.
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PMID:Autogenous bone graft for expansion thoracoplasty in Adam Robert Wright syndrome: a case report and review. 2042 50