Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vascular lesions of the gastrointestinal (GI) tract include arterio-venous malformations as angiodysplasia and Dieulafoy's lesion, venous ectasias (multiple phlebectasias and haemorroids), teleangiectasias which can be associated with hereditary hemorrhagic teleangiectasia (HHT), Turner's syndrome and systemic sclerosis, haemangioma's, angiosarcoma's and disorders of connective tissue affecting blood vessels as pseudoxanthoma elasticum and Ehlers-Danlos's disease. As a group, they are relatively rare lesions that however may be a major source of upper and lower gastrointestinal bleeding. Clinical presentation is variable, ranging from asymptomatic cases over iron deficiency anaemia to acute or recurrent bleeding that may be life-threatening. Furthermore, patients may present with other symptoms, e.g. pain, dysphagia, odynophagia, the presence of a palpable mass, intussusception, obstruction, haemodynamic problems resulting from high cardiac output, lymphatic abnormalities with protein loosing enteropathy and ascites, or dermatological and somatic features in syndromal cases. Diagnosis can usually be made using endoscopy, sometimes with additional biopsy. Barium radiography, angiography, intraoperative enteroscopy, tagged red blood cell scan, CT-scan and MRI-scan may offer additional information. Treatment can be symptomatic, including iron supplements and transfusion therapy or causal, including therapeutic endoscopy (laser, electrocautery, heater probe or injection sclerotherapy), therapeutic angiography and surgery. The mode of treatment is of course depending on the mode of presentation and other factors such as associated disorders. If endoscopic or angiographic therapy is impossible and surgical intervention not indicated, pharmacological therapy may be warranted. Good results have been reported with different drugs, albeit most of them have not been tested in large trials.
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PMID:Vascular lesions of the gastrointestinal tract. 1261 28

Ehlers-Danlos syndrome (EDS) comprises a group of related hereditary connective tissue diseases. EDS manifests as joint hypermobility, tissue elasticity, and easy bruising. Although affected patients typically present to primary care physicians, orthopedists, and rheumatologists, some head and neck symptoms (e.g., dysphonia, dysphagia, and/or temporomandibular joint complaints) may direct some to an otolaryngologist. We describe the cases of 2 patients who presented to our otolaryngology clinic for evaluation of dysphonia. On physical examination, both exhibited tongue hypermobility, and both were subsequently diagnosed with EDS. We also review the results of our comprehensive literature search, in which we found only 3 articles that specifically described tongue hypermobility; in each case, the hypermobility was related to EDS. Finally, we discuss presentations of EDS that otolaryngologists might encounter.
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PMID:Ehlers-Danlos syndrome presenting as dysphonia and manifesting as tongue hypermobility: Report of 2 cases. 1922 71

Gastrointestinal involvement is a well known complication of Ehlers-Danlos syndromes (EDSs), mainly in form of abdominal emergencies due to intestinal/abdominal vessels rupture in vascular EDS. In the last decade, a growing number of works investigated the relationship between a wide spectrum of chronic gastrointestinal complaints and various EDS forms, among which the hypermobility type (a.k.a. joint hypermobility syndrome; JHS/EDS-HT) was the most studied. The emerging findings depict a major role for gastrointestinal involvement in the health status and, consequently, management of JHS/EDS-HT patients. Nevertheless, fragmentation of knowledge limits its impact on practice within the boundaries of highly specialized clinics. In this paper, literature review on gastrointestinal manifestations in JHS/EDS-HT was carried out and identified papers categorized as (i) case-control/cohort studies associating (apparently non-syndromic) joint hypermobility and gastrointestinal involvement, (ii) case-control/cohort studies associating JHS/EDS-HT and gastrointestinal involvement, (iii) case reports/series on various gastrointestinal complications in (presumed) JHS/EDS-HT, and (iv) studies reporting gastrointestinal features in heterogeneous EDS patients' cohorts. Gastrointestinal manifestations of JHS/EDS-HT were organized and discussed in two categories, including structural anomalies (i.e., abdominal/diaphragmatic hernias, internal organ/pelvic prolapses, intestinal intussusceptions) and functional features (i.e., dysphagia, gastro-esophageal reflux, dyspepsia, recurrent abdominal pain, constipation/diarrhea), with emphasis on practice and future implications. In the second part of this paper, a summary of possible nutritional interventions in JHS/EDS-HT was presented. Supplementation strategies were borrowed from data available for general population with minor modifications in the light of recent discoveries in the pathogenesis of selected JHS/EDS-HT features.
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PMID:Gastrointestinal and nutritional issues in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. 2582 Oct 92

Ehlers-Danlos syndrome is a hereditary connective tissue disorder that has gastrointestinal manifestations in over 50% of its cases. We present the first case of bariatric surgery in a patient with Ehlers-Danlos syndrome and outline management challenges in the context of the relevant literature. A 56-year-old man with type IV Ehlers-Danlos syndrome and a body mass index of 41.8 kg/m2 was referred to the bariatric centre of the Churchill Hospital, Oxford, for consideration of surgery for morbid obesity. His comorbidity included type 2 diabetes, hypertension, dyslipidaemia and obstructive sleep apnoea. He underwent a laparoscopic Roux-en-Y gastric bypass. His initial recovery was uneventful and he was discharged on the first postoperative day. Six weeks later, he presented with 43.9% excess weight loss and improved glycaemic control. Three months postoperatively, however, he complained of dysphagia, regurgitation and postprandial pain. A barium meal and gastroscopy suggested the presence of a gastric diverticulum. A surgical exploration was planned. Intraoperative gastroscopy demonstrated an asymmetrical gastric pouch dilatation and the pouch was therefore refashioned laparoscopically. Despite the initial symptomatic relief, two months later he experienced retrosternal pain with progressive dysphagia. Since then, multiple endoscopic dilatations of the gastro-oesophageal junction have been performed for recurrence of symptoms. Finally, a laparoscopic hiatus hernia repair and adhesiolysis was performed resulting in complete relief of patient's symptoms. Bariatric management of patients with Ehlers-Danlos syndrome can prove challenging. The bariatric team must implement a careful management plan including a detailed consent process, a tailored surgical intervention and a follow-up focused on potential gastrointestinal manifestations.
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PMID:Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report. 3153 Jan 71