Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042961 (volvulus)
 4,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A total of 82 patients with gastroesophageal reflux were consecutively treated with stapled, uncut gastroplasty and complete fundoplication over a 12-year period. The conditions treated included symptomatic reflux; esophageal stricture; massive hernia; collagen esophagus; short esophagus; Barrett's esophagus; recurrent, massive bleeding or anemia; small gastric remnant after gastrectomy; and acute volvulus. The transthoracic approach of stapled, uncut gastroplasty gives superb exposure. Outstanding features of the procedure are the safety and versatility resulting from the small amount of fundus required, no need either to ligate short gastric vessels or to suture the esophagus itself, and preservation of anatomical continuity between the wrapping fundus and the wrapped gastric tubular segment. There have been no deaths and no cases of anatomical or symptomatic recurrence in the series. Complications included some nondebilitating and mainly self-limiting symptoms.
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PMID:Stapled, uncut gastroplasty for hiatal hernia: 12-year follow-up. 638 91

Even though it was not until 1950 that Barrett introduced the term "reflux esophagitis", this entity is now the most common disease afflicting the western world. Diaphragmatic herniation, recognized by Sennertus in 1541, was first repaired by Potemski (1889). Before World-War II, the condition was considered rare; symptomatology, as in external herniae, was ascribed to pinching of the stomach by the hernial ring. Only large protrusions, with signs of impending incarceration, volvulus, or strangulation, were operated upon. Modern understanding derives from studies of short, strictured esophagi. Because of endoscopic "gastric" biopsies in children, Findlay and Kelly considered them congenital "misplacements". However, Allison (1943), finding adults with ulceration and scarring, argued they were acquired. Later (1953) he concluded that the distal esophagus may be lined with metaplastic adenomatous epithelium which can harbor malignancy. His repair, reestablishing the crural pinchcock was, as pointed out by his countryman Collis (who in 1957 constructed a neo-esophagus from the Magenstrasse), inadequate. Nissen performed (1936) gastroesophagectomy in a case of peptic ulceration of the cardia. To avoid leakage he buried the anastomosis. Amazingly, 17 years later he learned that the patient had no reflux. He then successfully performed and reported (1956) fundoplication in a man and woman with gastroesophageal reflux disease. His operation remains the basis for surgical therapy today.
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PMID:The contribution of Allison and Nissen to the evolution of hiatus herniorrhaphy. 1200 49

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