Down's syndrome and esophageal achalasia: a rare but important clinical entity

We report a case of esophageal achalasia (EA) in Downȁ9s syndrome. A six-year-old girl with DS was referred from another hospital for further management of dysphagia and growth retardation (weight 16.3 kg, height 105.4 cm: both below −1.5 SD). Dysphagia commenced when she was one year old and gastroesophageal reflux (GER) was diagnosed when she was four. Routine investigations suggested EA or esophageal stenosis secondary to GER. While dissecting the esophago-gastric junction in preparation for a Heller-Dor esophagocardiomyotomy (HD-ECM), the crus of the diaphragm was noted to be narrowed, severely fibrosed and attached to the lower esophagus which was covered by dense scar tissue suggestive of an old esophageal perforation secondary to GER esophagitis. A Nissen fundoplication was performed, but dysphagia persisted postoperatively, and a narrowing 2 cm above the fundoplication wrap with proximal dilatation was found on repeated barium studies. At re-laparotomy, the fundoplication was unwrapped and HD-ECM performed. Eight months postoperatively, she is well with no recurrence. EA must be considered in any DS patient presenting with dysphagia.     

Cricopharyngeal spasm and Zenker's diverticulum

Cricopharyngeal spasm and Zenker's diverticulum represent disorders of the pharyngoesophageal junction for which a unifying theory of etiology has yet to be established. There is, however, a large body of evidence that supports an association with gastroesophageal reflux. Cricopharyngeal myotomy is the key to successful management of both disorders. Newer transoral endoscopic techniques of management have a lower overall morbidity than traditional open approaches in appropriately selected patients and are therefore gaining popularity as the preferred method of treatment.     

经腹行改良Heller手术治疗贲门失弛缓症64例

目的 总结经腹改良Heller手术和附加抗反流装置治疗贲门失弛缓症的手术经验及疗效。方法 全组采集我院1986～2006年病例64例。行单纯改良Heller手术（以下简称单纯组）16例，行改良Heller手术并附加抗反流装置（以下简称抗反流组）48例。结果 全组病例无食管及胃黏膜破裂，术后除单纯组发生反流性食管炎7例，症状改善不明显1例外，其余患者均症状改善，体重增加，抗反流组无反流性食管炎发生。结论 经腹改良Heller手术附加抗反流装置治疗贲门失弛缓症，手术操作简单易行，创伤小，并发症少，可有效预防术后反流性食管炎、黏膜微小损伤及瘘的发生，手术疗效满意。     

A scintigraphic study of oropharyngeal swallowing dynamics in Chagas'' disease

We studied oropharyngeal function in patients with Chagas' disease and oesophageal disease. Twenty-four patients with Chagas' disease, 17 of them with oesophageal disease, were submitted to scintigraphic oropharyngeal transit. A single swallow of a 10-mL bolus of water labelled with 40 MBq 99m Tc-phytate, followed by image acquisition at 20 images s-1 yielded time-activity curves in which oropharyngeal dynamics was evaluated. Thirteen normal volunteers were used as controls. Oral transit was longer for chagasics with oesophageal disease than for controls (P=0.004) or for chagasics with a normal oesophagus (P=0.028). Oesophageal filling rate, measured by the slope of the ascending aspect of the oesophageal radioactivity curve, was lower for chagasics with oesophageal disease than for controls (P=0.037). Also, maximum oesophageal filling rate was lower (P=0. 021) and occurred later (P=0.003) for chagasics with oesophageal disease than for controls. Pharyngeal clearance was positively correlated with oral transit (r=0.603, P=0.002). We conclude that chagasic oesophageal disease is associated with oral transit delay and a slower oesophageal filling rate.     

术中食管测压对改良Heller手术的指导价值

目的 探讨改良Heller手术中食管下括约肌的压力变化,确定食管、贲门肌层切开的长度和比例.方法 2006年5月至2007年12月采用改良Heller加Toupet抗反流手术治疗贲门失弛缓症患者15例,其中男性6例,女性9例;年龄28～61岁,术前病程6个月～9年.利用台式高分辨八通道胃肠动力监测系统,术中采用定点牵拉法监测食管下段四个方向食管下括约肌压力变化,并测量食管、贲门肌层切开的适宜长度.结果 全组无手术夕匕亡病例.食管贲门肌层切开的长度为5～8 cm.当食管侧切开长度为(5.3±1.5)am时,胃-食管连接处括约肌压力切开侧由(33.6±13.3)mm Hg(1 mm Hg=0.133 kPa)降至(9.7±4.6)mm Hg.胃侧切开长度(0.8±0.4)cm后,压力降至(4.8±3.1)null Hg.食管、贲门肌层切开前后,食管下括约肌压力明显降低(P<0.05).结论 术中食管测压可指导改良Heller于术中食管、贲门肌层切开的长度,为提高改良HeUer手术技术提供有用的信息.     

Validation of a disease‐specific quality‐of‐life questionnaire in a large sample of Dutch achalasia patients

SUMMARY. The aim of this study was to validate a translated version of an achalasia‐specific quality‐of‐life questionnaire (achalasia‐DSQoL) by examining its psychometric properties in a Dutch cohort of achalasia patients. The achalasia‐DSQoL was administered to 171 treated achalasia patients together with a clinical symptom score and the RAND‐36. Validation methods included factor analysis, known‐group techniques, Cronbach's alpha and Spearman rank correlation with other questionnaires and feasibility. About 72.5% of the achalasia patients completed the questionnaires. The achalasia‐DSQoL showed evidence of an underlying construct and seems reliable with a Cronbach's alpha of 0.77. The question concerning heartburn did not correlate with the other items on the questionnaire. Known‐group techniques demonstrated that the achalasia‐DSQoL discriminates between achalasia patients in clinical remission and patients who are not. There was a moderate correlation between the achalasia‐DSQoL and the RAND‐36 subscales. The questionnaire was easy in use. The translated version of the achalasia‐DSQoL is a valid and reliable instrument to compare groups of achalasia patients although the question concerning heartburn should be excluded.     

Inclusion body myositis with cricopharyngeus muscle involvement and severe dysphagia.

A patient with inclusion body myositis (IBM) is presented. Unusual aspects of this case include a myopathy of 36 years duration, severe dysphagia due to cricopharyngeus muscle dysfunction, improvement with cricopharyngeus myotomy, and a diagnostic cricopharyngeus muscle biopsy.     

Quantification of Resistance to Flow at the Esophagogastric Junction in Man

Changes in resistance to flow at the esophagogastric junction contribute to the regulation of esophageal emptying and gastroesophageal reflux. To quantify esophagogastric resistance in man we have adapted our pneumatic resistometer, previously validated in the dog. The system is based on the measurement of nitrogen flow through a 5-cm-long polyurethane cylinder placed within the gut lumen and maintained electronically at a constant pressure gradient. In vitro experiments showed that the amplitude, length, and diameter of the constricted segment each contribute to resistance as measured by our instrument. In vivo studies performed on eight healthy volunteers showed that the esophagogastric junction was the place of maximal resistance in the gastroesophageal region. Intragastric resistance was also comparatively high whereas esophageal body resistance was negligible. Esophagogastric junction resistance was similar for antegrade and retrograde flow. During swallowing, it decreased to 10% of resting values. In three patients with achalasia, it was markedly increased and did not vary significantly during swallowing. We conclude that pneumatic resistometry accurately quantitates segmental resistance to flow in the esophagogastric region. Under normal conditions esophagogastric junction resistance exceeds gastric resistance and, hence, provides a gradient against gastroesophageal reflux. However, this resistance gradient between the junction and the stomach is much narrower than previously thought on the basis of manometric measurements.     

贲门失驰缓症术式探讨

目的：探讨治疗贲门失弛缓症的理论手术。方法：回顾性分析66例贲门失驰缓症病人的治疗效果，评估手术方式与其疗效的关系。结果：单纯Heller肌层切开术15例，Heller 手术附加Belsey Mark IV胃底折叠术17例，自行设计的改良Heller手术附加胃底折叠术34例，全组随访3年以上，失访3例按无效计算，疗效优，良占91．2％（60／66），单纯Heller手术病例术后复发3例（3／15，20．0％），发生反流性食管炎4例（4／15，26．7％），Heller手术附加Belsey MarkIV胃底折叠术发生反流性食管炎2例（2／17，11．8％），膈裂孔疝1例（1／17，5．9％），而改良Heller手术附加胃底折叠术无复发及反流，全组无手术死亡及其它并发症。结论：改良Heller手术附加胃底折叠术是治疗贲门失驰缓症的较理想术式。     

Impact of genetic polymorphisms on the pathogenesis of achalasia: an age‐dependent paradigm?

Abstract  A wealth of evidence supports the concept that achalasia represents an autoimmune disorder in which a triggering factor (probably a virus) is the starter of an uncontrolled myenteric ganglionitis leading to neurodegeneration. The reasons whereby this process occurs only in some individuals and at the oesophageal level are unknown, but it is reasonable to assume that some genetic influence may affect the achalasia phenotype, making some individuals more or less susceptible to the disease. Association studies between achalasia and polymorphisms of genes involved in the regulation of immune responses may help to explain the complexity of achalasia pathogenesis and progression.