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Dysphagia in children with a 22q11.2 deletion: Unusual pattern found on modified barium swallow

JOURNAL OF PEDIATRICS 2000年第2期137卷 158-164页

作者： Eicher, PS McDonald-McGinn, DM Fox, CA Driscoll, DA Emanuel, BS Zackai, EH Childrens Hosp Philadelphia Div Human Genet & Mol Biol Philadelphia PA 19104 USA Childrens Hosp Philadelphia Philadelphia Childrens Seashore House Philadelphia PA 19104 USA Univ Penn Med Ctr Dept Obstet & Gynecol Philadelphia PA 19104 USA Univ Penn Med Ctr Dept Pediat Philadelphia PA 19104 USA

Objectives: To delineate feeding dysfunction in a population of children with a 22q11.2 deletion and report the associated findings noted during the modified barium swallow (RIBS). Study design: Seventy-five children with a chromosome 22q11.2 deletion and history of persistent feeding difficulty received a feeding evaluation, including an AIBS for those children for whom there was concern about airway penetration. Results: A consistent pattern of feeding difficulty independent of palatal or cardiac involvement, emerged From the evaluations. This group typically has trouble coordinating the suck/swallow/breath pattern, resulting in slow nipple Feedings interrupted by gagging or regurgitation. Recurrent vomiting and constipation are common. With advancement to chewable table foods, gagging or refusal develops, related to an immature oral transport pattern. The MBS studies demonstrate pharyngeal hypercontractility, circopharyngeal prominence, and/or diverticula. Conclusions: Because of the consistency of dysphagic symptoms and AIBS findings, we propose that dysmotility, especially through the pharyngoesophageal segment, is central to the dysphagia affecting this group. Dysphagia related to dysmotility may be underdiagnosed in this population or erroneously attributed to cardiac disease. Therefore attention to feeding status and investigation with MBS and gastrointestinal studies as warranted are recommended for all patients with a 22q11.2 deletion and feeding problems.

关键词：畸形多发性/放射摄影术染色体缺失染色体人 22对吞咽吞咽障碍/病因学吞咽障碍/病理生理学吞咽障碍/放射摄影术 DiGeorge综合征/并发症食管/畸形食管/放射摄影术咽/畸形咽/放射摄影术综合征青少年儿童儿童学龄前女(雌)性人类婴儿婴儿新生男(雄)性

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Development and validation of a self-report symptom inventory to assess the severity of oral-pharyngeal dysphagia

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GASTROENTEROLOGY 2000年第4期118卷 678-687页

作者： Wallace, AL Middleton, S Cook, IJ St George Hosp Dept Gastroenterol Kogarah NSW 2217 Australia Univ New S Wales Dept Math & Stat Sydney NSW Australia

Background & Aims: The aim of this study was to develop and evaluate the validity and reliability of a self-report inventory to measure symptomatic severity of oral-pharyngeal dysphagia. Methods: Test-retest reliability and face, content, and construct validity of a prototype visual analogue scale inventory were assessed in 45 patients who had stable, neuromyogenic dysphagia, Results: Normalized scores varied over time by -0.5% +/- 17.6% (95% confidence interval, -9.2% to 8.2%). Factor analysis identified a single factor (dysphagia), to which 18 of 19 questions contributed significantly, that accounted for 56% of total variance (P < 0.0001). After deletion of 2 questions with poor face validity and patient compliance, this proportion increased to 59%;mean test-retest change was -2% (95% confidence interval, -11% to 7%);and total score correlated highly with an independent global assessment severity score (r = 0.7;P < 0.0001). A mean 70% reduction in score (P < 0.0001) was observed after surgery in patients with Zenker's diverticulum (discriminant validity). Conclusions: Applied to patients with neuromyogenic dysphagia, the 17-question inventory shows strong test-retest reliability over 2 weeks as well as face, content, and construct validity, Discriminant validity (responsiveness) has been demonstrated in a population with a correctable, structural cricopharyngeal disorder, Responsiveness of the instrument to treatment in neuromyogenic dysphagia remains to be quantified.

关键词：吞咽障碍/病理生理学口腔疾病/病理生理学咽疾病/病理生理学试验预期值结果可重复性疾病严重程度指数成年人老年人老年人 80以上女(雌)性人类男(雄)性中年人

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Tumors of the esophagus

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WORLD JOURNAL OF SURGERY 2000年第4期24卷 401-411页

作者： Hatch, GF Wertheimer-Hatch, L Hatch, KF Davis, GB Blanchard, DK Foster, RS Skandalakis, JE Emory Univ Sch Med Ctr Surg Anat Atlanta GA 30322 USA Emory Univ Sch Med Ctr Surg Tech Atlanta GA 30322 USA

This collective review includes all available case reports of smooth muscle (stromal) tumors of the esophagus in the world literature. Compiling this review, we endeavored to examine cumulative and recently collected data of both benign and malignant esophageal smooth muscle tumors found in the literature spanning the period from 1875 to 1996, which totaled 1679 leiomyomas (LMs) and 165 leiomyosarcomas (LMSs). The peek age of occurrence of benign smooth muscle tumors in the esophagus was found to be between the ages of 30 and 59, whereas the highest frequency of malignant tumors was seen later in life, during the decade from age 60 to 69. The most common location of both LMs and LMSs was the lower third of the esophagus. Their patterns of growth differed;LMs mere more likely to grow intramurally, and LMSs were predominantly intraluminal. Most patients with LMs presented with dysphagia and pain or discomfort;patients with LMSs additionally commonly complained of weight loss. As with smooth muscle tumors of other areas of the gastrointestinal tract, the duration of symptoms averaged 1 month to 1 year, and malignant tumors grew to larger sizes than benign neoplasms. Approximately one-third of LMSs had metastasized at diagnosis, and there was a 5-year survival rate of approximately 20%.

关键词：年龄因素吞咽障碍/病理生理学食管肿瘤/分类食管肿瘤/病理学食管肿瘤/病理生理学平滑肌瘤/分类平滑肌瘤/病理学平滑肌瘤/病理生理学平滑肌肉瘤/分类平滑肌肉瘤/病理学平滑肌肉瘤/病理生理学平滑肌肉瘤/继发性存活率时间因素体重减轻成年人老年人女(雌)性人类男(雄)性中年人

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ALTERATION IN ESOPHAGEAL MOTILITY AFTER LARYNGECTOMY

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AMERICAN JOURNAL OF SURGERY 1976年第1期131卷 30-35页

作者： DURANCEAU, A JAMIESON, G HURWITZ, AL JONES, RS POSTLETHWAIT, RW DUKE UNIV MED CTRDEPT SURGDURHAMNC 27710 DUKE UNIV MED CTRDIV GASTROENTEROLDURHAMNC VET ADM HOSP DURHAMNC

Ten laryngectomees underwent esophageal motility studies to assess the effect of laryngectomy on esophageal function. When these patients are compared with controls, marked derangements in esophageal motility were noted in the upper esophageal sphincter (UES) and in the body of the esophagus. Lower esophageal sphincter (LES) function did not differ significantly from the controls. Dysphagia developed postoperatively in five of the ten laryngectomees. This preliminary analysis suggests that esophageal motility disturbances may be relatively frequent after laryngectomy and that these disturbances may be clinically significant. The theoretical basis for the motility abnormalities and areas of future research are discussed.

关键词：吞咽障碍/病因学吞咽障碍/病理生理学食管/病理生理学老年人人类男(雄)性中年人

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Chronic dysphagia following laparoscopic fundoplication

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BRITISH JOURNAL OF SURGERY 2000年第10期87卷 1341-1345页

作者： Bessell, JR Finch, R Gotley, DC Smithers, BM Nathanson, L Menzies, B Mater Private Hosp Dept Surg Brisbane Qld Australia Royal Brisbane Hosp Brisbane Qld 4029 Australia Princess Alexandra Hosp Brisbane Qld 4102 Australia

Background: Many surgeons practise tailored laparoscopic antireflux surgery in an attempt to prevent postoperative dysphagia. The aim of this study was to determine the effect of 360 degrees fundoplication (Nissen) or 270 degrees fundoplication (Toupet), and the influence of abnormal oesophageal peristalsis, upon postoperative dysphagia. Methods: This was a cohort study from three tertiary referral centres, using dysphagia before laparoscopic fundoplication and 1 year after operation as the main outcome variable. Preoperative oesophageal manometry was performed on all patients. Results: Some 761 patients underwent Nissen and 85 underwent Toupet fundoplication. Only 2 per cent reported severe postoperative dysphagia. There was a significant selection bias towards the Toupet operation for patients with abnormal oesophageal motility (P < 0.001). For patients whose oesophageal manometric findings were normal there was a significant improvement in dysphagia after Nissen fundoplication (P = 0.02), and no significant change following Toupet fundoplication. There was no significant change in the rate of dysphagia following either method of fundoplication amongst other subgroups in which oesophageal manometry was stratified as non-specific motor disorder, low-amplitude peristalsis, or aperistalsis. Conclusion: A tailored approach to the degree of fundoplication is unnecessary as patients with dysmotility suffer no more dysphagia after full laparoscopic Nissen fundoplication than those who have a partial Toupet wrap.

关键词：慢性病队列研究吞咽障碍/病因学吞咽障碍/病理生理学胃底折叠术/方法腹腔镜检查/方法测压法病人满意度蠕动/生理学前瞻性研究危险因素人类

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Dysphagia lusoria: Clinical aspects, manometric findings, diagnosis, and therapy

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AMERICAN JOURNAL OF GASTROENTEROLOGY 2000年第6期95卷 1411-1416页

作者： Janssen, M Baggen, MGA Veen, HF Smout, AJPM Bekkers, JA Jonkman, JGJ Ouwendijk, RJT Acad Hosp Rotterdam Dept Cardiol Rotterdam Netherlands Acad Hosp Rotterdam Dept Thorac Surg Rotterdam Netherlands Ikazia Hosp Dept Internal Med Rotterdam Netherlands Ikazia Hosp Dept Surg Rotterdam Netherlands Ikazia Hosp Dept Radiol & Nucl Med Rotterdam Netherlands Univ Utrecht Hosp Dept Gastroenterol Utrecht Netherlands

OBJECTIVE: The lusorian artery is a rare anomaly of the right subclavian artery. This artery arises from the aortic arch distal of the left subclavian artery, crossing the midline behind the esophagus. Normally this anomaly causes no symptoms. Sometimes dysphagia first appears above the age of 40 yr. METHODS: In the period of 1992-1997, the diagnosis of an aberrant right subclavian artery was made in live patients with dysphagia who were referred to a small community hospital. A sixth patient had a right-sided aorta with an aberrant left subclavian artery. RESULTS: Endoscopy revealed a pulsating impression in the esophagus of three patients. Four patients had coexisting esophageal abnormalities. Barium contrast examination of the esophagus showed a characteristic diagonal impression at the level of the fourth thoracic vertebra in all patients. Computed tomography and angiography confirmed the diagnosis and excluded aneurysms. Manometric investigation of the esophagus revealed nonspecific abnormalities in five patients. Drug treatment was sufficient in three patients (mean follow-up, 6.2 yr). Three patients were operated upon because of persistent dysphagia. Through a cervical approach the artery was ligated near its root and connected with the right carotid artery. Postoperatively two patients became symptom-free, the other patient still has intermittent dysphagia. CONCLUSION: Dysphagia can be caused by a rare anomaly of the subclavian artery. The diagnosis can be overlooked at endoscopy, but barium contrast study of the esophagus will reveal the abnormality. In patients with coexisting esophageal abnormalities the finding may be incidental and specific conservative treatment may be sufficient. Manometry cannot be used to diagnose this condition or to predict surgical outcome. When the symptoms are intractable, surgical correction should be considered even if coexisting esophageal abnormalities are present. (Am J Gastroenterol 2000;95: 1411-1416. (C) 2000 by Am. Col

关键词：血管造影术主动脉/畸形钡/诊断应用吞咽障碍/诊断吞咽障碍/病因学吞咽障碍/病理生理学吞咽障碍/治疗膳食食管/药物作用食管/病理生理学食管/放射摄影术食管/外科学测压法锁骨下动脉/畸形锁骨下动脉/放射摄影术成年人女(雌)性人类男(雄)性中年人

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Area under pH 4: A more sensitive parameter for the quantitative analysis of esophageal acid exposure in adults

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AMERICAN JOURNAL OF GASTROENTEROLOGY 1999年第11期94卷 3139-3144页

作者： Dinelli, M Passaretti, S Di Francia, I Fossati, D Tittobello, A Univ Milan Hosp San Raffaele Gastroenterol Unit I-20132 Milan Italy Deltron Ltd Milan Italy

OBJECTIVE: Traditional quantitative analysis of 24-h esophageal pH monitoring data does not include the pH of reflux episodes. Area under pH 4 (AU4) is a recently introduced parameter that describes the acid exposure rate through both duration and depth of pH falls. METHODS: In Study A, we enrolled 20 healthy controls and 42 patients (18 without esophagitis, 24 with Savary I-III esophagitis) in a study evaluating reference values for 24-h reflux time at pH <4 (RT) and 24-h AU4 by means of receiver operating characteristic (ROC) discriminant analysis. For Study B, we next prospectively applied the resulting cutoffs to 16 healthy controls and to 110 gastroesophageal reflux (GERD) patients (55 with esophagitis) to adjust sensitivity, specificity, and predictive values of both RT and AU4. RESULTS: In Study A, the best cutoff values were 5.1% for RT (Area Index +/- SE, 0.899 +/- 0.038;95% confidence interval [C.I.], 0.796 +/- 0.961) and 36.1 pH x min for AU4 (Area Index +/- SE, 0.935 +/- 0.03;95% C.I., 0.842 +/- 0.981);AU4 gave the best performance (p = 0.038 vs RT) in discriminating controls and GERD patients. In Study B, RT was abnormal in three controls and 79 patients;AU4 identified all the controls and patients with abnormal RT and also 10/31 patients (32.3%) with so-called "normal" acid exposure (according to RT). In the whole GERD group of patients, AU4 and RT specificity was 81.2%, whereas sensitivity was 71.8% for RT and 80.9% for AU4 (chi(2), 61.831;DF, 1;p < 0.005);PPV/NPV were 96.3%/29.5% for RT. and 96.7%/38.2% for AU4. CONCLUSIONS: AU4 appears to be a simple and sensitive quantitative parameter to measure the esophageal acid exposure in adults submitted to 24-h pH monitoring, and it could be an useful clinical aid in evaluating normal RT tests where, from a clinical point of view, a reflux disease is highly likely. (C) 1999 by Am. Cell. of Gastroenterology.

关键词：曲线下面积置信区间吞咽障碍/诊断吞咽障碍/病理生理学判别分析食管炎消化性/诊断食管炎消化性/病理生理学胃酸/分泌胃食管反流/诊断胃食管反流/病理生理学胃灼热/诊断胃灼热/病理生理学氢离子浓度监测生理学试验预期值前瞻性研究 ROC曲线敏感性与特异性时间因素成年人老年人女(雌)性人类男(雄)性中年人

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Clinical and manometric features of the lower esophageal muscular ring

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AMERICAN JOURNAL OF GASTROENTEROLOGY 2000年第1期95卷 43-49页

作者： Hirano, I Gilliam, J Goyal, RK Northwestern Univ Sch Med Div Gastroenterol & Hepatol Chicago IL 60611 USA Vet Adm Med Ctr W Roxbury Div Gastroenterol W Roxbury MA USA Vet Adm Med Ctr W Roxbury Dept Radiol W Roxbury MA USA

OBJECTIVE: In contrast to the well-recognized Schatzki's ring, the lower esophageal muscular ring remains a poorly defined entity. The purpose of this study is to report on the clinical features of three patients with lower esophageal muscular rings and review the literature on this disorder, to better understand its importance as a cause of dysphagia. METHODS: Three patients presenting to the West Roxbury VA Medical Center were identified as having a contractile, focal narrowing in the distal esophagus by upper GI series. Clinical histories were obtained and endoscopic and manometric evaluations were performed. RESULTS: The three patients had symptoms consisting of chronic, intermittent dysphagia for both liquids and solids. The results of barium swallows and upper endoscopic examinations were similar and revealed a focal, thick constriction of variable luminal diameter located a few centimeters above the squamocolumnar junction. Esophageal motility testing revealed peristaltic, high-amplitude, long-duration, and multiple peaked contractions. Lower esophageal sphincter function was normal. The patients derived partial or only temporary relief of dysphagia with esophageal dilation with rigid dilators. All three patients had significant symptomatic responses to anticholinergic agents. CONCLUSIONS: Lower esophageal muscular rings are an uncommon but important cause of dysphagia. Significant esophageal motility abnormalities can be found in symptomatic patients. Distinguishing the lower esophageal muscular ring from the Schatzki's ring is important because of differences in the treatment and outcome of the two conditions.

关键词：吞咽障碍/病因学吞咽障碍/病理生理学吞咽障碍/放射摄影术食管狭窄/并发症食管狭窄/诊断食管狭窄/病理生理学食管狭窄/放射摄影术食管/病理生理学食管/放射摄影术测压法蠕动老年人老年人 80以上人类男(雄)性

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