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Journal of Pediatric Gastroenterology... May 2022The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms...
BACKGROUND AND AIMS
The initial description of a heterozygous dominant ACTG2 variant in familial visceral myopathy was followed by the identification of additional variants in other forms of intestinal dysmotility disorders. we aimed to describe the diverse phenotype of this newly reported and rare disease.
METHODS
Report of 4 new patients, and a systematic review of ACTG2-related disorders. we analyzed the population frequency and used in silico gene damaging predictions. Genotype-phenotype correlations were explored.
RESULTS
One hundred three patients (52% girls), from 14 publications, were included. Twenty-eight unique variants were analyzed, all exceedingly rare, and 27 predicted to be highly damaging. The median Combined Annotation Dependent Depletion (CADD) score was 29.2 (Interquartile range 26.3-29.4). Most patients underwent abdominal surgery (66%), about half required intermittent bladder catheterization (48.5%), and more than half were parenteral nutrition (PN)-dependent (53%). One-quarter of the patients died (25.7%), and 6 required transplant (5.8%). Girls had a higher rate of microcolon (P = 0.009), PN dependency (P = 0.003), and death/transplant (P = 0.029) compared with boys, and early disease onset (<2 years of age) was associated with megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) features. There was no statistical association between disease characteristics and CADD scores.
CONCLUSIONS
Damaging ACTG2 variants are rare, often associated with MMIHS phenotype, and overall have a wide phenotypic variation. Symptoms usually present in the perinatal period but can also appear at a later age. The course of the disease is marked by frequent need for surgical interventions, PN support, and mortality. Poor outcomes are more common among girls with ACTG2 variants.
Topics: Abnormalities, Multiple; Actins; Colon; Female; Humans; Intestinal Pseudo-Obstruction; Male; Phenotype; Pregnancy; Urinary Bladder
PubMed: 35149643
DOI: 10.1097/MPG.0000000000003400 -
Alimentary Pharmacology & Therapeutics Nov 2005Acute colonic pseudo-obstruction is the clinical syndrome of acute large bowel dilatation without mechanical obstruction that is an important cause of morbidity and... (Review)
Review
Acute colonic pseudo-obstruction is the clinical syndrome of acute large bowel dilatation without mechanical obstruction that is an important cause of morbidity and mortality. Acute colonic pseudo-obstruction occurs in hospitalized or institutionalized patients with serious underlying medical and surgical conditions. The pathogenesis of acute colonic pseudo-obstruction is not completely understood but likely results from an imbalance in the autonomic regulation of colonic motor function. Metabolic or pharmacological factors, as well as spinal or retroperitoneal trauma, may alter the autonomic regulation of colonic function, leading to excessive parasympathetic suppression or sympathetic stimulation. This imbalance results in colonic atony and dilatation. Early recognition and appropriate management are critical to minimizing morbidity and mortality. The mortality rate is estimated at 40% when ischaemia or perforation occurs. The best-studied treatment of acute colonic pseudo-obstruction is intravenous neostigmine, which leads to prompt colon decompression in the majority of patients after a single infusion. In patients failing or having contraindications to neostigmine, colonoscopic decompression is the active intervention of choice. Surgery is reserved for those with peritonitis or perforation.
Topics: Acute Disease; Colonic Pseudo-Obstruction; Humans; Neostigmine; Parasympathomimetics; Patient Care Management; Radiography
PubMed: 16268965
DOI: 10.1111/j.1365-2036.2005.02668.x -
Journal of Clinical Oncology : Official... Mar 2013Many cancer centers offer acupuncture services. To date, a comprehensive systematic review of acupuncture in cancer care has not been conducted. The purpose of this... (Review)
Review
PURPOSE
Many cancer centers offer acupuncture services. To date, a comprehensive systematic review of acupuncture in cancer care has not been conducted. The purpose of this review was to evaluate the efficacy of acupuncture for symptom management in patients with cancer.
METHODS
Medline, Embase, CINAHL, Cochrane (all databases), Scopus, and PubMed were searched from inception through December 2011 for prospective randomized clinical trials (RCT) evaluating acupuncture for symptom management in cancer care. Only studies involving needle insertion into acupuncture points were included. No language limitations were applied. Studies were assessed for risk of bias (ROB) according to Cochrane criteria. Outcomes by symptom were designated as positive, negative, or unclear.
RESULTS
A total of 2,151 publications were screened. Of those, 41 RCTs involving eight symptoms (pain, nausea, hot flashes, fatigue, radiation-induced xerostomia, prolonged postoperative ileus, anxiety/mood disorders, and sleep disturbance) met all inclusion criteria. One positive trial of acupuncture for chemotherapy-induced nausea and vomiting had low ROB. Of the remaining studies, eight had unclear ROB (four positive, three negative, and one with unclear outcomes). Thirty-three studies had high ROB (19 positive, 11 negative, and three with both positive and negative outcomes depending on the symptom).
CONCLUSION
Acupuncture is an appropriate adjunctive treatment for chemotherapy-induced nausea/vomiting, but additional studies are needed. For other symptoms, efficacy remains undetermined owing to high ROB among studies. Future research should focus on standardizing comparison groups and treatment methods, be at least single-blinded, assess biologic mechanisms, have adequate statistical power, and involve multiple acupuncturists.
Topics: Acupuncture Therapy; Antineoplastic Agents; Anxiety; Evidence-Based Medicine; Fatigue; Hot Flashes; Humans; Intestinal Pseudo-Obstruction; Mood Disorders; Nausea; Neoplasms; Observer Variation; Pain; Pain Management; Radiotherapy; Randomized Controlled Trials as Topic; Sleep Wake Disorders; Treatment Outcome; Xerostomia
PubMed: 23341529
DOI: 10.1200/JCO.2012.43.5818 -
The Cochrane Database of Systematic... Oct 2007Traditionally postoperative oral intake is withheld until the return of bowel function. There has been concern that early oral intake would result in vomiting and severe... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Traditionally postoperative oral intake is withheld until the return of bowel function. There has been concern that early oral intake would result in vomiting and severe paralytic ileus with subsequent aspiration pneumonia, wound dehiscence, and anastomotic leakage. However, supporting scientific evidence for this traditional practice is lacking and there are potential benefits from early postoperative oral intake.
OBJECTIVES
To assess the effects of early versus delayed (traditional) initiation of oral intake of food and fluids after major abdominal gynaecologic surgery.
SEARCH STRATEGY
We searched the Menstrual Disorders & Subfertility Group's Specialised Register of controlled trials, the electronic databases (MEDLINE, EMBASE, CINAHL), the Cochrane Controlled Trials Register, and the citation lists of relevant publications in April 2007.
SELECTION CRITERIA
Randomised controlled trials that compared the effect of early versus delayed initiation of oral intake of food and fluids after major abdominal gynaecologic surgery were considered. Early feeding was defined as having oral intake of fluids or food within the first 24 hours after surgery regardless of the presence or absence of the signs that indicate the return of bowel function and delayed feeding was defined after first 24 hours following surgery and only after clinical signs of resolution of postoperative ileus.
DATA COLLECTION AND ANALYSIS
Studies considered were assessed for methodological quality criteria for inclusion. For dichotomous data, relative risks and 95% confidence intervals were calculated. Continuous data were examined using weighted mean difference and 95% confidence interval. Heterogeneity between the results of different studies were examined by using the forest plot of a meta-analysis, the statistical tests of homogeneity of 2 x 2 tables and the I(2) value.
MAIN RESULTS
Early commencement of oral fluids and food was associated with: increased nausea (one study, 195 patients; relative risk 1.79, 95% confidence interval 1.19 to 2.71), shorter time to the presence of bowel sound (one study, 195 patients; weighted mean difference -0.5 day, 95% confidence interval -0.84 to -0.16), shorter time to first solid diet (two studies, 301 patients; weighted mean difference -1.47 day, 95% confidence interval -2.26 to -0.68), and a trend toward shorter hospital stay (two studies, 301 patients; weighted mean difference -0.73 day, 95% confidence interval -1.52 to 0.07). The shorter hospital stay with early feeding was also evident in the study that reported length of hospital stay in median (-2 days, 4.0 days in early feeding group and 6.0 days in traditional feeding group). There was no significant difference in postoperative ileus, vomiting, and abdominal distension, time to presence of flatus, time to the first passage of stool, postoperative nasogastric tube placement, febrile morbidity, wound complications, and pneumonia.
AUTHORS' CONCLUSIONS
Early feeding after major abdominal gynaecologic surgery is safe however associated with the increased risk of nausea and a reduced length of hospital stay. Whether to adopt the early feeding approach should be individualised. Further studies should focus on the cost-effectiveness, patient's satisfaction, and other physiological changes.
Topics: Drinking; Female; Food; Genital Neoplasms, Female; Gynecologic Surgical Procedures; Humans; Hysterectomy; Intestinal Pseudo-Obstruction; Nausea; Ovariectomy; Postoperative Care; Postoperative Complications; Randomized Controlled Trials as Topic; Time Factors
PubMed: 17943817
DOI: 10.1002/14651858.CD004508.pub3 -
Colorectal Disease : the Official... Dec 2020The aim of this work was to compare the outcomes of extended right hemicolectomy (ERH), left hemicolectomy (LH) and segmental colectomy (SC) for the surgical management... (Meta-Analysis)
Meta-Analysis
AIM
The aim of this work was to compare the outcomes of extended right hemicolectomy (ERH), left hemicolectomy (LH) and segmental colectomy (SC) for the surgical management of splenic flexure tumours.
METHOD
In compliance with PRISMA statement standards, a systematic review was performed to identify all studies comparing outcomes of ERH, LH and SC for the surgical management of splenic flexure tumours. Primary outcomes included anastomotic leakage and all postoperative complications. The secondary outcomes included operative time, R0 resection, number of harvested lymph nodes, > 12 harvested lymph nodes, severe complications, postoperative mortality, paralytic ileus, wound infection, pancreatic fistula, intra-abdominal abscess, need for reoperation, length of hospital stay, 5-year overall survival and 5-year disease-free survival. The ROBINS-I tool and GRADE system were used to assess the risk of bias and certainty of evidence, respectively.
RESULTS
Analysis of 956 patients from seven observational studies showed that ERH was associated with more paralytic ileus than LH (OR 2.74, P = 0.002) and SC (OR 6.67, P < 0.0001) and the operative time was shorter in SC than in ERH (mean difference 25.48, P < 0.0001) and LH (mean difference -17.94, P = 0.0002). There were no differences between ERH, LH and SC in terms of anastomotic leakage, postoperative complications, R0 resection, severe complications, postoperative mortality, wound infection, pancreatic fistula, intra-abdominal abscess, need for reoperation, length of hospital stay, > 12 harvested lymph nodes, 5-year overall survival and 5-year disease-free survival.
CONCLUSIONS
The available evidence, limited to observational studies, suggests that there is no difference between ERH, LH and SC in terms of postoperative morbidity and mortality, lymph node yield and cancer survival. Randomized controlled trials are required for definite conclusions.
Topics: Anastomotic Leak; Colectomy; Colon, Transverse; Colonic Neoplasms; Humans; Laparoscopy; Postoperative Complications; Treatment Outcome
PubMed: 32757361
DOI: 10.1111/codi.15292 -
Digestive Surgery 2008Recent trials have shown promising results for the efficacy of gum chewing for the amelioration of postoperative ileus. This finding could have a major clinical impact... (Review)
Review
BACKGROUND
Recent trials have shown promising results for the efficacy of gum chewing for the amelioration of postoperative ileus. This finding could have a major clinical impact since gum chewing is relatively harmless and cheap while postoperative ileus has a significant impact on healthcare.
METHODS
Systematic review and meta-analysis of randomized controlled trials comparing the efficacy of gum chewing after colorectal surgery to a standard control for the amelioration of postoperative ileus, expressed as time to flatus, time to defecation and overall hospital stay.
RESULTS
Five randomized controlled trials with a total number of 158 patients were found. The studies were homogeneous and a meta-analysis was performed. The pooled weighted mean difference (WMD) of time to flatus was significantly shorter for the gum-chewing group (20 h with a 95% confidence interval (CI) of 13-27). The pooled WMD of time to defecation was significantly shorter (29 h, 95% CI of 19-39). There was a non-significant trend towards a shorter postoperative hospital stay (1.3 days shorter, 95% CI of 3.2 days shorter to 0.6 days longer).
CONCLUSION
This meta-analysis shows a favorable effect of gum chewing on time to flatus and defecation but no significant effect on the hospital stay.
Topics: Adult; Aged; Chewing Gum; Female; Gastrointestinal Motility; Humans; Intestinal Pseudo-Obstruction; Male; Mastication; Middle Aged; Postoperative Complications; Treatment Outcome
PubMed: 18292660
DOI: 10.1159/000117822 -
The Cochrane Database of Systematic... 2002It is customary for fluids and/or food to be withheld for a period of time after abdominal operations. After caesarean section, practices vary considerably. These... (Review)
Review
BACKGROUND
It is customary for fluids and/or food to be withheld for a period of time after abdominal operations. After caesarean section, practices vary considerably. These discrepancies raise concern as to the bases of different practices.
OBJECTIVES
To assess the effect of early versus delayed introduction of fluids and/or food after caesarean section.
SEARCH STRATEGY
We searched the Cochrane Pregnancy and Childbirth Group trials register (January 2002) and the Cochrane Controlled Trials Register (The Cochrane Library, Issue 4, 2001).
SELECTION CRITERIA
Clinical trials with random allocation comparing early versus delayed oral fluids and/or food after caesarean section were considered. The participants were women within the first 24 hours after caesarean section. The criteria for 'early' feeding were as defined by the individual trial authors - usually within six to eight hours of surgery.
DATA COLLECTION AND ANALYSIS
Trials considered were evaluated for methodological quality and appropriateness for inclusion. For dichotomous data, relative risks and 95% confidence intervals were calculated. Continuous data were compared using weighted mean difference and 95% confidence interval. Sub-group analyses were performed for general anaesthesia, regional analgesia and where anaesthesia was mixed or undefined.
MAIN RESULTS
Of 12 studies considered, six were included in this review. Four were excluded and two are pending further information. The methodological quality of the studies was variable. Only one to three studies contributed usable data to each outcome. Three studies were limited to surgery under regional analgesia, while three included both regional analgesia and general anaesthesia. Early oral fluids or food were associated with: reduced time to first food intake (one study, 118 women; the intervention was a slush diet and food was introduced according to clinical parameters; weighted mean difference -7.20 hours, 95% confidence interval -13.26 to -1.14); reduced time to return of bowel sounds (one study, 118 women; -4.30 hours, -6.78 to -1.82); reduced postoperative hospital stay following surgery under regional analgesia (two studies, 220 women; -0.75 days, -1.37 to -0.12 - random effects model); and a trend to reduced abdominal distension (three studies, 369 women; relative risk 0.78, 95% confidence interval 0.55 to 1.11). No significant differences were identified with respect to nausea, vomiting, time to bowel action/ passing flatus, paralytic ileus and number of analgesic doses.
REVIEWER'S CONCLUSIONS
There was no evidence from the limited randomised trials reviewed, to justify a policy of withholding oral fluids after uncomplicated caesarean section. Further research is justified.
Topics: Administration, Oral; Cesarean Section; Female; Fluid Therapy; Food; Humans; Postoperative Care; Pregnancy; Time Factors
PubMed: 12137699
DOI: 10.1002/14651858.CD003516 -
Pediatric Surgery International Sep 2013Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe disorder of functional obstruction affecting bladder and bowel, usually diagnosed... (Review)
Review
BACKGROUND
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and severe disorder of functional obstruction affecting bladder and bowel, usually diagnosed in the neonatal period. Over 230 cases have been reported since Berdon and colleagues first described this clinical entity in 1976. The exact pathogenesis of MMIHS is unknown. Familial occurrence of MMIHS has been reported and could offer insight into the aetiology of this disease. The purpose of this study was to systematically review the published literature for the evidence of familial MMIHS and to characterise these presentations.
METHODS
A literature search was performed using the keywords "megacystis microcolon intestinal hypoperistalsis" (1976-2013). Retrieved articles, including additional studies from reference lists, were reviewed for consanguinity between parents and recurrence of MMIHS between siblings. Data were extracted for cases where familial MMIHS was present.
RESULTS
A total of 47 patients were reported in which familial MMIHS was likely or confirmed. 15 sibling sets were definitively diagnosed with MMIHS (14 pairs and one set of three siblings). Four further index patients with a confirmed diagnosis and also one of the sibling pairs were reported to have a sibling in which MMIHS was probable. Consanguinity between parents was present in four of the confirmed sibling sets and in an additional seven individual cases. The outcome for familial MMIHS is generally poor. Multiple sibling fatalities were frequent and in only one family were both siblings' survivors at the time of reporting.
CONCLUSION
Consanguinity between parents and recurrence in siblings indicate that MMIHS is inherited in an autosomal recessive manner. With the advent of next generation sequencing, these familial clusters may be key to determining the genetic basis for MMIHS.
Topics: Abnormalities, Multiple; Child; Child, Preschool; Colon; Consanguinity; Female; Humans; Infant; Infant, Newborn; Intestinal Pseudo-Obstruction; Male; Siblings; Syndrome; Urinary Bladder
PubMed: 23955298
DOI: 10.1007/s00383-013-3357-x -
Intractable & Rare Diseases Research Aug 2022Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these... (Review)
Review
Smooth muscle disorders affecting both the intestine and the bladder have been known for a decade. However, the recent discovery of genes associated with these dysfunctions has led to the description of several clinical phenotypes. We performed a systematic review of all published cases involving seven genes with pathogenic variants, , , , , , and , and included 28 articles describing 112 patients and 5 pregnancies terminated before birth. The most commonly described mutations involved (75/112, 67% of patients), (14%) and (13%). Twenty-seven patients (28%) died at a median age of 14.5 months. Among the 76 patients for whom this information was available, 10 (13%) had isolated chronic intestinal pseudo-obstruction (CIPO), 17 (22%) had isolated megacystis, and 48 (63%) had combined CIPO and megacystis. The respective proportions of these phenotypes were 9%, 20% and 71% among the 56 patients with mutations, 20%, 20% and 60% among the 10 patients with mutations and 50%, 50% and 0% among the 7 patients with mutations.
PubMed: 36200034
DOI: 10.5582/irdr.2022.01060 -
Pediatric Surgery International Oct 2011Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. This congenital... (Review)
Review
PURPOSE
Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare and the most severe form of functional intestinal obstruction in the newborn. This congenital condition is associated with non-obstructed urinary bladder, microcolon and decreased or absent intestinal peristalsis. This study was designed to determine the incidence and outcome of MMIHS.
METHODS
A systematic review of the literature (1976-2011) was performed for key words "megacystis microcolon intestinal hypoperistalsis". Resulting publications were reviewed for epidemiology and outcome. Reference lists were screened for additional cases.
RESULTS
A total number of 227 MMIHS cases were reported from 1976 to 2011. A clear preponderance for female infants was found (female 70.6 vs. male 29.4%). One or more surgical interventions were reported in 115 patients (including gastrostomy, ileostomy, jejunostomy, segmental resections of small bowel, adhesiolysis and internal sphincter myectomy). For decompression of the megacystis, vesicostomy was performed in 41 patients. Outcome was reported in a total of 218 patients. Survival rate was 19.7% (survivors: n = 43, non-survivors: n = 175), the oldest survivor being 24 years old. The vast majority of the surviving patients had to be maintained by total or partial parenteral nutrition (TPN). Main causes of death were sepsis, malnutrition and multiple organ failure. Twelve multivisceral transplantations have been reported to date in patients with MMIHS. The majority of the survivors are reported to be free of parenteral nutrition and show improving gastric emptying. However, intermittent catheterisation remains obligatory due to persistent bladder dysfunction.
CONCLUSIONS
The survival in MMIHS in recent years has improved. The majority of survivors are either maintained by TPN or have undergone multiorgan transplantations.
Topics: Abnormalities, Multiple; Cause of Death; Colon; Decompression, Surgical; Enterostomy; Female; Humans; Infant, Newborn; Intestinal Pseudo-Obstruction; Male; Parenteral Nutrition; Sex Distribution; Survival Rate; Treatment Outcome; Urinary Bladder; Viscera
PubMed: 21792650
DOI: 10.1007/s00383-011-2954-9