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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Kartagener's syndrome (KS) is a clinical variant of primary ciliary dyskinesia involving situs inversus associated with chronic airway infections. We studied two sisters; the elder one had dextrocardia and scoliosis, and the younger one had situs inversus of the lung, liver, and stomach as well as dextrocardia. Both patients had chronic sinusitis and chronic bronchitis with bronchiectasis. In both cases, the ciliary defect associated with this syndrome is the absence of inner dynein arms.
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PMID:Ciliary ultrastructure in two sisters with Kartagener's syndrome. 1738 88

Observations about the natural history of aging in Cornelia de Lange syndrome (CdLS) are made, based on 49 patients from a multidisciplinary clinic for adolescents and adults. The mean age was 17 years. Although most patients remain small, obesity may develop. Gastroesophageal reflux persists or worsens, and there are early long-term sequelae, including Barrett esophagus in 10%; other gastrointestinal findings include risk for volvulus, rumination, and chronic constipation. Submucous cleft palate was found in 14%, most undetected before our evaluation. Chronic sinusitis was noted in 39%, often with nasal polyps. Blepharitis improves with age; cataracts and detached retina may occur. Decreased bone density is observed, with occasional fractures. One quarter have leg length discrepancy and 39% scoliosis. Most females have delayed or irregular menses but normal gynecologic exams and pap smears. Benign prostatic hypertrophy occurred in one male prior to 40 years. The phenotype is variable, but there is a distinct pattern of facial changes with aging. Premature gray hair is frequent; two patients had cutis verticis gyrata. Behavioral issues and specific psychiatric diagnoses, including self-injury, anxiety, attention-deficit disorder, autistic features, depression, and obsessive-compulsive behavior, often worsen with age. This work presents some evidence for accelerated aging in CdLS. Of 53% with mutation analysis, 55% demonstrate a detectable mutation in NIPBL or SMC1A. Although no specific genotype-phenotype correlations have been firmly established, individuals with missense mutations in NIPBL and SMC1A appear milder than those with other mutations. Based on these observations, recommendations for clinical management of adults with CdLS are made.
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PMID:Natural history of aging in Cornelia de Lange syndrome. 1764 42

The author proposes a novel method of reconstructive surgery in persistent nasal scoliosis. The device for conduction of the proposed technique has been developed. From 1976 to 2006 this surgical method was used in 627 patients aged 14-65 years. Of them, 43 patients had clinical manifestations of acute or chronic sinusitis. The reconstructive operation was performed after arrest of sinus inflammation. One-stage functional operations on the paranasal sinuses were made in 27 patients with sinusitis. The author emphasizes low traumatism, blood loss, duration of the proposed operation as well as the absence of serious complications and positive functional and cosmetic results. The method can be easily mastered by otorhinolaryngologists with experience in rhinological operations.
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PMID:[A method of reconstructive surgery in persistent nasal scoliosis]. 1816 79