A comparative study of laparoscopy-assisted pull-through and open pull-through for Hirschsprung's disease with special reference to postoperative fecal continence

Aim

The objective of this study is to compare laparoscopy-assisted pull-through (LPT) and open pull-through (OPT) for Hirschsprung's disease with special reference to postoperative fecal continence.

Methods

Thirteen OPT patients (1991-1996) were reviewed retrospectively, and 22 LPT (1997-2002) were reviewed prospectively. A continence evaluation questionnaire (CEQ, max score = 10) assessing frequency of motions, severity of staining, severity of perianal erosions, anal shape, and requirement for medications was used. Severity of staining was graded as none = 2, occasional = 1.5, often = 1, always = 0.5, and soiling = 0, and severity of staining less than or equal to 1 was defined as moderate to severe incontinence. Presence of fever (peak and duration), raised white cell count (>10,000/μL), and C-reactive protein (>0.3 mg/dL) were used to assess surgical stress.

Results

Pull-through was endorectal in all cases. Mean age at pull-through was not statistically different between the 2 groups. Annual CEQ scores for 7 years after LPT were 6.3, 6.9, 7.3, 7.7, 8.3, 8.9, and 9.0, and after OPT were 5.6, 6.4, 7.0, 7.5, 7.8, 8.3, and 8.4. Although CEQ scores were higher after LPT throughout, the difference was not statistically significant. The incidence of moderate to severe incontinence after 4 years was 54% (7/13) for OPT and 23% (5/22) for LPT, and after 6 years, it was 23% (3/13) for OPT and 0% for LPT. Duration/peak of raised C-reactive protein and duration of fever were significantly less for LPT (P < .01).

Conclusion

Our results suggest that LPT is less invasive and may provide better postoperative bowel management compared with OPT.     

The challenge of measuring quality of life in children with Hirschsprung's disease or anorectal malformation

Purpose

The aim of the present study was to assess, after adaptation to French, the only specific quality of life (QoL) instrument for children with Hirschsprung's disease or anorectal malformation, the Hirschsprung's disease/Anorectal Malformation Quality of Life questionnaire (HAQL), in order to get a standardized QoL evaluation instrument that could further be used to help health care improvement.

Methods

The study was conducted in three teaching hospitals, including the French reference center for anorectal and pelvic malformations. After adaptation to French, QoL questionnaires were sent to the children and proxies. The questionnaire was mailed to 280 families. Psychometrics properties of the questionnaires (validity and reliability) were analysed from 120 proxy and 96 child questionnaires.

Results

The HAQL with the original structure was not acceptable. Exploratory steps led to a clinically pertinent structure that had acceptable fit and good validity and reliability properties. The final structure pools physical symptoms (continence, discomfort) and psychosocial dimensions (general well-being, social and emotional functioning) of QoL.

Conclusion

The final structure, despite the disadvantage of being a new structure, allows assessment of QoL in this population and has the advantage of being shorter and validated on the clinical postoperative questionnaire from the Krickenbeck international consensus.     

Long-term disease-specific quality of life in adult anorectal malformation patients

Background

Fecal and urinary incontinence may differently influence various aspects of quality of life (QOL). The main aim of the present study is to determine whether fecal and urinary incontinence measured at time 1 of the study will predict QOL at time 2 (after 4 years), above and beyond the prediction already explained by fecal and urinary incontinence at time 2.

Methods

Thirty-six adult patients from the Italian Parents' and Patients' Association for Anorectal Malformations answered items about urinary and fecal incontinence at time 1 of the study and completed the Hirschsprung Disease/Anorectal Malformation Quality of Life questionnaire after 4 years from the first questionnaire. Two sets of hierarchical regression analyses were conducted with fecal and urinary incontinence serving as predictors of QOL and the different areas of QOL from the Hirschsprung Disease/Anorectal Malformation Quality of Life serving as outcome variables.

Results

The principal findings indicated that fecal continence is a strong predictor of QOL in the areas of social functioning, emotional functioning, and body image and that urinary incontinence predicted sexual functioning.

Conclusions

It seems that one's past experience with fecal incontinence is extremely relevant to current QOL, especially for body image. Urinary incontinence contributed less in explaining QOL in our patients, but because it is very relevant for sexual functioning, it should not be disregarded.     

Intestinal transplantation for total intestinal aganglionosis: a series of 12 consecutive children

Background

Management of patients with total intestinal aganglionosis (TIA) is a medical challenge because of their dependency on parenteral nutrition (PN). Intestinal transplantation (ITx) represents the only alternative treatment for patients with irreversible intestinal failure for achieving intestinal autonomy.

Methods

Among 66 patients who underwent ITx in our center, 12 had TIA. They received either isolated ITx (n = 4) or liver-ITx (LITx, n = 8) after 10 to 144 months of total PN. All grafts included the right colon.

Results

After a median follow-up of 57 months, the survival rate was 62.5% in the LITx group and 100% in the ITx patients. The graft survival rate was 62.5% in the LITx group and 75% in the ITx group. All the surviving patients were fully weaned from total PN, after a median of 57 days. Pull through of the colon allograft was carried out in all patients. Fecal continence is normal in all but one of the surviving children.

Conclusion

These results suggest that ITx with colon grafting should be the preferred therapeutic option in TIA. Early referral to a transplantation center after diagnosis of TIA is critical to prevent PN-related cirrhosis and thereby to permit ITx, which is associated with a good survival rate.     

The long-term quality of life outcomes in adolescents with Hirschsprung disease

Background

Postoperative outcomes for Hirschsprung disease (HD) remain variable, with many patients affected by constipation and/or fecal incontinence. The long-term impact upon quality of life (QoL) for HD patients is unclear. We measured long-term QoL outcomes in adolescents with HD using validated questionnaires.

Hirschsprung's disease: healthcare meets the needs

Objective

The objective of this study was to examine the types of healthcare services used by children, adolescents, and adults with Hirschsprung Disease (HD) in relation to the severity of the initial defect (mild, severe), whether additional care was needed, the provision of information, transfer to adult care, and satisfaction with the care provided.

Methods

Three hundred twenty (71%) HD patients, ages 6 to 54, completed a questionnaire that assessed the use of healthcare services, the need for more healthcare, the provision of information, the transfer to adult care and satisfaction with the provided care.

Results

In 6 months, 45% of the children, 14% of the adolescents, and 15% of the adults consulted a medical specialist. Compared with patients with a mild form of HD in the age range of 6 to 16 years, only the more severely afflicted adult patients visited medical professionals more often (10% vs 29%) (P < .05). Of the children, the adolescents, and the adults 23%, 8%, and 6% respectively consulted a nonmedical professional. Less than 15% of all patients whould have liked more treatment. In 6 months 51% of the children, 24% of the adolescents, and 21% of the adults received treatment information, of which respectively 14, 8, and 20% wished they had received more information. Three (12%) patients who needed adult care encountered problems with the transfer. Almost all patients were satisfied with the care provided.

Conclusions

There is good access to medical healthcare services, especially for children. The only lacuna in the healthcare system we revealed was a lack of information, particularly for adult patients. Most parents and patients reported to be very satisfied with the provided care.     

Patterns of postoperative enterocolitis in children with Hirschsprung's disease combined with hypoganglionosis

Objective

The relationship between postoperative enterocolitis (EC) and Hirschsprung's disease (HD) combined with hypoganglionosis (HYP) has not been thoroughly reported elsewhere. The aim of this study was to investigate the incidence of EC after operation in children with HD combined with HYP and to identify new strategies to prevent postoperative EC.

Methods

From 1998 to 2005, 97 children with HD underwent the modified Swenson's procedure in this institute. They were classified into 2 groups based on pathologic investigation as follows: group A contained 70 patients with HD and group B contained 27 patients with HD complicated with HYP. The mean follow-up time from the time of the operation was 3.4 years (range, 1.5-8 years). The incidence of postoperative EC and anorectal functions were evaluated and compared between these 2 groups.

Results

Eight cases (11.4%) in group A developed postoperative EC, whereas 11 (40.7%) in group B did so. The incidence of postoperative EC in group A was significantly lower than that in group B (P < .005). According to the Rintala scoring system, the percentage of patients with an excellent score in group A (85.7%) was significantly higher than that in group B (P < .05). The recurrence rate of constipation in group B was 14.8% (4/27), whereas it was 2.8% (2/70) in group A.

Conclusions

Postoperative EC is associated with retained proximal HYP, which suggests that HYP could be, at minimum, a predictive marker for this complication. Complete resection of HYP segment could potentially minimize the incidence of postoperative EC and alleviate the severity of EC.     

Impact of short-course radiotherapy and low anterior resection on quality of life and bowel function in primary rectal cancer

BACKGROUND: Short-course preoperative radiotherapy and total mesorectal excision have decreased local recurrence rates from rectal cancer. However, the effect of this radiotherapy on bowel function and quality of life in these patients is not well understood. METHODS: Between 1999 and 2004, 34 patients underwent low anterior resection and either short-course preoperative radiation (N = 24) or surgery alone (N = 10). Quality of life and bowel function were assessed using validated instruments: European Organization of Research and Treatment of Cancer Quality of Life questionnaires, Fecal Incontinence Quality of Life Scale, and the Memorial Sloan-Kettering Cancer Center Bowel Function Instrument. RESULTS: Patients treated with preoperative radiation had higher rates of fecal incontinence and showed a strong trend toward lower global quality-of-life scores. In addition, there was a trend toward worse bowel function in these patients. CONCLUSIONS: Patients treated with short-course preoperative radiotherapy had worse continence-related quality of life than patients treated with surgery alone for rectal cancer. Fecal incontinence has a negative effect on quality of life in these patients, causing difficulty with coping, lifestyle, and depression, and limiting daily activities. Validated instruments provide standardized assessment of bowel function and quality of life.     

Long-term clinical outcome in patients with Hirschsprung's disease and associated Down's syndrome

Background/Purpose

Down's syndrome (DS) is the most common chromosomal abnormality associated with Hirschsprung's disease (HD). The purpose of this study was to review the long-term clinical outcome in patients with HD and associated DS.

Methods

Between 1975 and 2003, 39 (15%) of the 259 patients with HD had been associated with DS. Follow-up was carried out by means of examination of patient's records and personal/telephone interviews with the patient's parents or guardians.

Results

Twenty-six (67%) patients presented in the newborn period and 13 (33%) after the neonatal period. Twenty-eight (72%) patients had rectosigmoid HD, 10 long segment, and 1 total colonic aganglionosis. Thirty-two patients had other associated anomalies, 24 of these having cardiac anomalies. Definitive pull-through operation was performed in 33 patients. Parents of 1 child refused surgical intervention and parents of 2 children decided against pull-through operation after colostomy. Three children died before pull through. Thirteen patients had one or more episodes of enterocolitis after pull-through operation. At the time of follow-up (6 months to 28 years), 3 patients were found to have reverted to stoma because of poor bowel control or recurrent enterocolitis. Of the remaining 30 patients, 3 were lost to follow-up and 4 were too young to be assessed for bowel control. Assessment of bowel function in 23 patients revealed normal control in 8 (4 of these soiled for 6-17 years after definitive surgery), soiling in 8, and constipation requiring enemas or laxatives in 7.

Conclusions

The vast majority of patients with HD associated with DS continue to have disturbances of bowel function after definitive pull-through operation.     

慢性肾脏病患者生活质量对肾功能进展的影响

目的 了解慢性肾脏病(chronic kidney disease,CKD)2～4期未透析患者生活质量状况,并探讨其对肾功能进展的影响.方法 对湖北省中医院肾病科门诊的138例CKD 2～4期患者规律随访2年并定期进行生活质量评估及血肌酐测量,同时记录性别、年龄、病程、原发病、血压、身高、体质量,计算体质量指数;比较CKD 2～4期患者生活质量差异.将138例患者根据肾功能进展情况分为肾功能进展组与肾功能无进展组,比较2组基本情况及生活质量差异,采用非条件Lo-gistic回归分析,分析肾功能进展的危险因素.结果 ①CKD 2～4期患者生活质量10个维度得分比较,CKD 4期组均较CKD 3期组、CKD 2期组低,且在症状影响、肾病影响、身体功能、社会功能、精力、体力方面差异有统计学意义(P＜0.05).②肾功能进展组与肾功能无进展组比较,肾功能进展组体质量指数低于肾功能无进展组,差异有统计学意义(P＜0.05);生活质量10个维度中,肾功能进展组得分低于肾功能无进展组,在症状影响、肾病影响、肾病负担、身体功能、情感状况、社会情感、精力、体力方面差异有统计学意义(P＜0.05).③肾功能进展危险因素分析,体质量指数、症状影响、身体功能、情感状况为肾功能进展的危险因素.结论 CKD患者的生活质量随着肾小球滤过率下降而降低,且肾功能进展者生活质量较差.生活质量中症状影响、身体功能及情感状况是肾功能进展的危险因素,提示CKD患者生活质量下降加速病情进展的恶性循环,关注其生活质量十分必要.     

Gastroschisis with Hirschsprung's disease: a therapeutic dilemma

The authors report a case of a neonate with gastroschisis, which, after repair, was further complicated by the diagnosis of Hirschsprung's disease. The authors discuss the diagnostic and management dilemmas posed by the coexistence of these two conditions for the clinician.     

Evaluation of pulmonary function and quality of life in women with osteoporosis

Osteoporotic vertebral fractures generally result in an increased kyphotic angle, which in turn may lead to disturbances in pulmonary function. The objective of the present study was to evaluate pulmonary function and quality of life in a group of osteoporotic patients. Fifteen women with osteoporosis and thoracic vertebral fractures (group 1), 20 women with osteoporosis without vertebral fracture (group 2) and 20 control women (group 3) were submitted to spirometry using a Vitatrace-130 SL spirometer and to an SF-36 quality of life questionnaire. Women with osteoporosis and vertebral fractures showed an increased kyphotic angle (median=60°) and decreased forced vital capacity (group 1 vs. group 2, P =0.020; group 1 vs. group 3, P =0.039) and forced expiratory volume in 1 s (group 1 vs. group 2, P =0.008; group 1 vs. group 3, P =0.014) when compared with women without vertebral fractures or osteoporosis. A negative correlation was observed between thoracic kyphosis and the predicted value of expiratory forced volume in 1 s ( r =–0.713, P =0.003). No differences in the quality of life were detected between the three groups studied. We conclude that women with thoracic vertebral fractures have an increased kyphotic angle and present a decrease in lung volume.     

腹腔镜辅助先天性巨结肠根治术30例经验报告

目的　总结和介绍腹腔镜辅助先天性巨结肠根治术 30例临床结果和腹腔镜手术操作经验。方法　从 1 999年 1 0月～ 2 0 0 2年 1月对 30例确诊先天性巨结肠症 (Hirschsprung’sdisease,HD)患儿实施手术。结果　 30例手术均获成功 ,达到开腹手术同样治疗效果。结论　行腹腔镜辅助先天性巨结肠根治术安全 ,有效 ,减少手术创伤     

Outcomes of Hirschsprung's disease associated with Mowat-Wilson syndrome

Purpose

Mowat-Wilson syndrome (MWS) is a developmental disorder presenting with mental retardation, delayed motor development, and a wide spectrum of clinical features. Hirschsprung's disease (HD) is associated in almost 50% of cases. This report aims to analyze the course of HD and to evaluate the clinical outcomes of these patients.

Patients and methods

Between 1997 and 2007, 110 patients presenting with HD were diagnosed and managed in our institution. Five of them presented the association of HD and MWS. Their records were reviewed retrospectively.

Results

All of the 5 patients have a genetic disorder specific of MWS (nonsense mutation or deletion on SIP1 gene, locus 2q22). Two patients underwent transanal endorectal pull-through procedure for classic rectosigmoid HD. Three patients were operated on for total colonic aganglionosis using Duhamel procedure. The median follow-up was 4 (range, 0.3-7) years. Only one patient is doing well (rectosigmoid HD). Two patients have a stoma diversion for severe motility disorders. Of the 3 total colonic aganglionosis, one still has repeated episodes of obstruction requiring total parenteral nutrition (TPN). The 2 others still have repeated episodes of enterocolitis. All patients required a prolonged TPN (32.5 months in average).

Conclusion

Hirschsprung's disease associated with MWS is a severe condition. Even in case of short segment HD, patients can present motility disorder requiring a prolonged TPN. Physician and surgeon should be aware about the evolution of this rare condition.     

Cognitive function and quality of life in bariatric surgery candidates

Background

Both poor quality of life (QoL) and cognitive impairment are common in persons with severe obesity. Work in other patient populations show that cognitive impairment is associated with poorer QoL, though this possibility has not been examined in bariatric surgery candidates.

Hirschsprung's disease in Arab siblings with Bardet-Biedl syndrome

Hirschsprung's disease (HSCR) is a developmental disorder characterized by the absence of enteric neurons in distal segments of the gut. Though HSCR is isolated (nonsyndromic) in most cases, its association with chromosomal aberrations, some congenital anomalies, and a few syndromes has been documented. We report the association of HSCR with Bardet-Biedl syndrome in 2 siblings born to consanguineous Saudi Arabian parents. Both cases were diagnosed during the neonatal period. The first patient had the severe variety of the disease with aganglionosis involving the entire colon and terminal ileum. He died of postoperative complications. The second child had a limited short segment variety of HSCR. For social reasons, the surgical intervention was done only at 5 years of age with no documented complications.     

315例终末期肾病血液透析患者生活质量的调查分析

目的对315例血液透析患者的生活质量进行调查研究,确定相关影响因素,为采取措施提高患者的生活质量提供参考。 方法采用血液透析患者生活质量调查表对苏州市区3家三级甲等医院315例终末期肾病维持性血液透析患者进行调查。 结果多因素分析发现年龄大者生理健康得分(PCS)和总体健康得分(SF－6D)低(P<0.05),已婚或同居者的PCS、SF－6D、肾脏疾病总分(KDCS)比未婚或独居者高(P<0.05),随患者学历的增加,心理健康得分(MCS)、SF－6D和KDCS提高(P<0.05),有合并症者的MCS、KDCS较低(P<0.05),有并发症者的PCS亦较低(P<0.05)。PCS和SF－6D随透析龄的增加而降低(P<0.05),每周透析≤2次者SF－6D较低(P<0.05)。 结论影响苏州市血液透析患者生活质量的相关因素为年龄、婚姻状况、文化程度、合并症、并发症和透析龄,应采取措施对高危人群进行干预。     

慢性肾脏病患者生活质量的初步分析

目的应用改良的肾脏病生活质量量表1．3（KDQOL—SF^TM 1．3）对慢性肾脏病（CKD）患者的生活质量进行初步分析。方法采用问卷调查的方法收集44例门诊CKD患者的生活质量数据进行分析。结果18个维度中有11项α信度系数〉0．6,其中7项α信度系数超过了0．8。对反映简化36医疗结局研究量表（SF-36）的8个维度采用因子分析法,经最大方差旋转后产生2个主成分,共解释了64．66％的总方差。肾脏病相关生存质量（KDTA）总分与SF-36量表总分的相关系数为0．421。不同性别在“总体健康”一项中差异有统计学意义（P=0．026）,肾功能正常与不全两组患者在“症状与不适”方面的差异具有统计学意义。“症状与不适”、“睡眠”、“社会的支持”、“疼痛”4项均与年龄呈负相关。结论本改良量表基本适合我国国情,但需进一步改良与完善。