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Journal of Pediatric Surgery Sep 2016Megacystis microcolon intestinal hypoperistalsis (MMIHS) is a rare disorder characterized by distended nonobstructed bladder, microcolon, and decreased intestinal... (Review)
Review
INTRODUCTION
Megacystis microcolon intestinal hypoperistalsis (MMIHS) is a rare disorder characterized by distended nonobstructed bladder, microcolon, and decreased intestinal peristalsis. MMIHS has a particularly poor prognosis; however, when appropriately managed, survival can be prolonged.
STUDY DESIGN
A systematic review (1996-2016) was performed with the key words "megacystis microcolon intestinal hypoperistalsis syndrome." In addition, a case series of four patients is presented as well as algorithms for the diagnosis and treatment of MMIHS.
RESULTS
135 patients with MMIHS were identified in the literature. 73% (88/121) of the patients were female, 65% underwent diagnostic biopsy (64/99), and 63% (66/106) were identified with prenatal imaging. The majority of patients were treated with TPN as well as gastrostomy or ileostomy and CIC, however 15% (18/116) received multivisceral or intestinal transplant, and 30% (22/73) had a vesicostomy. The survival rate was 57% (68/121).
CONCLUSION
Appropriate management of MMIHS patients is crucial. An enlarged, acontractile bladder in a child with bowel motility problems should be considered diagnostic. Bladder distension can be managed with CIC or vesicostomy in addition to prophylactic antibiotics if frequent urinary tract infections are present. These patients often require gastrostomy or ileostomy as well as total parenteral nutrition. This management has led to significant improvement in survival rates.
Topics: Abnormalities, Multiple; Colon; Combined Modality Therapy; Cystostomy; Female; Gastrostomy; Humans; Ileostomy; Infant; Infant, Newborn; Intermittent Urethral Catheterization; Intestinal Pseudo-Obstruction; Male; Parenteral Nutrition, Total; Treatment Outcome; Urinary Bladder
PubMed: 27421821
DOI: 10.1016/j.jpedsurg.2016.06.011 -
Techniques in Coloproctology Jul 2016Prucalopride is a new prokinetic agent, recently available in Europe for the treatment of functional constipation in adults in whom treatment with laxatives failed to... (Review)
Review
Prucalopride is a new prokinetic agent, recently available in Europe for the treatment of functional constipation in adults in whom treatment with laxatives failed to provide adequate relief. However, due to its intrinsic properties (highly selective agonist activity and high affinity for 5-HT4 receptors, neuroprotection), this drug has shown the potential to be used in other pathologic conditions, in and outside of the gastrointestinal tract. We performed a systematic review of the evidence supporting these possible alternative uses of prucalopride. Further studies in this area are, however, mandatory.
Topics: Analgesics, Opioid; Benzofurans; Colonic Diseases; Constipation; Humans; Ileus; Intestinal Pseudo-Obstruction; Multiple Sclerosis; Serotonin 5-HT4 Receptor Agonists; Spinal Cord Injuries
PubMed: 27174045
DOI: 10.1007/s10151-016-1477-8 -
Human Immunology Sep 2015Intestinal pseudo-obstruction (IpsO) is considered a severe manifestation of systemic lupus erythematosus (SLE) characterized by clinical and radiological evidence of... (Review)
Review
Intestinal pseudo-obstruction (IpsO) is considered a severe manifestation of systemic lupus erythematosus (SLE) characterized by clinical and radiological evidence of intestinal obstruction with no identifiable mechanical lesion. We performed a systematic review to document IpsO in SLE. Twenty-eight articles with 42 patients were included. The median age of onset of IpsO was 27.5 (10-57) years. The female to male ratio was 38:4. Twenty-two (52.4%) patients had IpsO as the initial presentation of their underlying lupus. Three (7.1%) patients manifested in inactive lupus. The duration of abdominal symptoms before admitted ranged from 3 days to 3 years, however most of the patients responded well to systemic corticosteroid or immunosuppressive treatment within 2 days to about 3 months. Concomitant ureterohydronephrosis was present in approximately three-fourths of the cases. More interestingly, 4 patients presented hepatobiliary dilatation without mechanical obstruction together with IPO and ureterohydronephrosis. In conclusion, IpsO is an uncommon but important manifestation of SLE. The finding of coexisting ureterohydronephrosis and hepatobiliary dilatation suggests that there may be generalized visceral muscle dysmotility. Early recognition of IpsO is necessary to institute appropriate medical treatment and to avoid inappropriate surgical intervention.
Topics: Adolescent; Adult; Autoantibodies; Child; Comorbidity; Female; Humans; Intestinal Pseudo-Obstruction; Lupus Erythematosus, Systemic; Male; Middle Aged; Patient Outcome Assessment; Serologic Tests; Young Adult
PubMed: 26429329
DOI: 10.1016/j.humimm.2015.09.022 -
The Cochrane Database of Systematic... Jul 2015The management of postoperative pain and recovery is still unsatisfactory in clinical practice. Opioids used for postoperative analgesia are frequently associated with... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
The management of postoperative pain and recovery is still unsatisfactory in clinical practice. Opioids used for postoperative analgesia are frequently associated with adverse effects including nausea and constipation. These adverse effects prevent smooth postoperative recovery. On the other hand not all patients may be suited to, and take benefit from, epidural analgesia used to enhance postoperative recovery. The non-opioid lidocaine was investigated in several studies for its use in multi-modal management strategies to reduce postoperative pain and enhance recovery.
OBJECTIVES
The aim of this review was to assess the effects (benefits and risks) of perioperative intravenous lidocaine infusion compared to placebo/no treatment or compared to epidural analgesia on postoperative pain and recovery in adults undergoing various surgical procedures.
SEARCH METHODS
We searched the Cochrane Central Register of Controlled Trials (CENTRAL, Issue 5 2014), MEDLINE (January 1966 to May 2014), EMBASE (1980 to May 2014), CINAHL (1982 to May 2014), and reference lists of articles. We searched the trial registry database ClinicalTrials.gov, contacted researchers in the field, and handsearched journals and congress proceedings. We did not apply any language restrictions.
SELECTION CRITERIA
We included randomized controlled trials comparing the effect of continuous perioperative intravenous lidocaine infusion either with placebo, or no treatment, or with epidural analgesia in adults undergoing elective or urgent surgery under general anaesthesia. The intravenous lidocaine infusion must have been started intraoperatively prior to incision and continued at least until the end of surgery.
DATA COLLECTION AND ANALYSIS
Trial quality was independently assessed by two authors according to the methodological procedures specified by the Cochrane Collaboration. Data were extracted by two independent authors. We collected trial data on postoperative pain, recovery of gastrointestinal function, length of hospital stay, postoperative nausea and vomiting (PONV), opioid consumption, patient satisfaction, surgical complication rates, and adverse effects of the intervention.
MAIN RESULTS
We included 45 trials involving 2802 participants. Two trials compared intravenous lidocaine versus epidural analgesia. In all the remaining trials placebo or no treatment was used as a comparator. Trials involved participants undergoing open abdominal (12), laparoscopic abdominal (13), or various other surgical procedures (20).The risk of bias was low with respect to selection bias (random sequence generation), performance bias, attrition bias, and detection bias in more than 50% of the included studies. For allocation concealment and selective reporting the quality assessment yielded low risk of bias for only approximately 20% of the included studies.We found evidence of effect for intravenous lidocaine on the reduction of postoperative pain (visual analogue scale, 0 to 10 cm) compared to placebo or no treatment at 'early time points (one to four hours)' (mean difference (MD) -0.84 cm, 95% confidence interval (CI) -1.10 to -0.59; low-quality evidence) and at 'intermediate time points (24 hours)' (MD -0.34 cm, 95% CI -0.57 to -0.11; low-quality evidence) after surgery. However, no evidence of effect was found for lidocaine to reduce pain at 'late time points (48 hours)' (MD -0.22 cm, 95% CI -0.47 to 0.03; low-quality evidence). Pain reduction was most obvious at 'early time points' in participants undergoing laparoscopic abdominal surgery (MD -1.14, 95% CI -1.51 to -0.78; low-quality evidence) and open abdominal surgery (MD -0.72, 95% CI -0.96 to -0.47; moderate-quality evidence). No evidence of effect was found for lidocaine to reduce pain in participants undergoing all other surgeries (MD -0.30, 95% CI -0.89 to 0.28; low-quality evidence). Quality of evidence is limited due to inconsistency and indirectness (small trial sizes).Evidence of effect was found for lidocaine on gastrointestinal recovery regarding the reduction of the time to first flatus (MD -5.49 hours, 95% CI -7.97 to -3.00; low-quality evidence), time to first bowel movement (MD -6.12 hours, 95% CI -7.36 to -4.89; low-quality evidence), and the risk of paralytic ileus (risk ratio (RR) 0.38, 95% CI 0.15 to 0.99; low-quality evidence). However, no evidence of effect was found for lidocaine on shortening the time to first defaecation (MD -9.52 hours, 95% CI -23.24 to 4.19; very low-quality evidence).Furthermore, we found evidence of positive effects for lidocaine administration on secondary outcomes such as reduction of length of hospital stay, postoperative nausea, intraoperative and postoperative opioid requirements. There was limited data on the effect of IV lidocaine on adverse effects (e.g. death, arrhythmias, other heart rate disorders or signs of lidocaine toxicity) compared to placebo treatment as only a limited number of studies systematically analysed the occurrence of adverse effects of the lidocaine intervention.The comparison of intravenous lidocaine versus epidural analgesia revealed no evidence of effect for lidocaine on relevant outcomes. However, the results have to be considered with caution due to imprecision of the effect estimates.
AUTHORS' CONCLUSIONS
There is low to moderate evidence that this intervention, when compared to placebo, has an impact on pain scores, especially in the early postoperative phase, and on postoperative nausea. There is limited evidence that this has further impact on other relevant clinical outcomes, such as gastrointestinal recovery, length of hospital stay, and opioid requirements. So far there is a scarcity of studies that have systematically assessed the incidence of adverse effects; the optimal dose; timing (including the duration of the administration); and the effects when compared with epidural anaesthesia.
Topics: Anesthetics, Intravenous; Anesthetics, Local; Humans; Lidocaine; Pain Measurement; Pain, Postoperative; Recovery of Function
PubMed: 26184397
DOI: 10.1002/14651858.CD009642.pub2 -
The Cochrane Database of Systematic... Dec 2014This is an updated version of the original Cochrane review published in 2007. Traditionally, after major abdominal gynaecologic surgery postoperative oral intake is... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
This is an updated version of the original Cochrane review published in 2007. Traditionally, after major abdominal gynaecologic surgery 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, evidence-based clinical studies suggest that there may be 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 METHODS
We searched the Menstrual Disorders and Subfertility Group's Specialised Register, the Cochrane Central Register of Controlled Trials (CENTRAL), electronic databases (MEDLINE, EMBASE, CINAHL), and the citation lists of relevant publications. The most recent search was conducted 1 April 2014. We also searched a registry for ongoing trials (www.clinicaltrials.gov) on 13 May 2014.
SELECTION CRITERIA
Randomised controlled trials (RCTs) were eligible that compared the effect of early versus delayed initiation of oral intake of food and fluids after major abdominal gynaecologic surgery. Early feeding was defined as oral intake of fluids or food within 24 hours post-surgery regardless of the return of bowel function. Delayed feeding was defined as oral intake after 24 hours post-surgery and only after signs of postoperative ileus resolution.
DATA COLLECTION AND ANALYSIS
Two review authors selected studies, assessed study quality and extracted the data. For dichotomous data, we calculated the risk ratio (RR) with a 95% confidence interval (CI). We examined continuous data using the mean difference (MD) and a 95% CI. We tested for heterogeneity between the results of different studies using a forest plot of the meta-analysis, the statistical tests of homogeneity of 2 x 2 tables and the I² value. We assessed the quality of the evidence using GRADE methods.
MAIN RESULTS
Rates of developing postoperative ileus were comparable between study groups (RR 0.47, 95% CI 0.17 to 1.29, P = 0.14, 3 RCTs, 279 women, I² = 0%, moderate-quality evidence). When we considered the rates of nausea or vomiting or both, there was no evidence of a difference between the study groups (RR 1.03, 95% CI 0.64 to 1.67, P = 0.90, 4 RCTs, 484 women, I² = 73%, moderate-quality evidence). There was no evidence of a difference between the study groups in abdominal distension (RR 1.07, 95% CI 0.77 to 1.47, 2 RCTs, 301 women, I² = 0%) or a need for postoperative nasogastric tube placement (RR 0.48, 95% CI 0.13 to 1.80, 1 RCT, 195 women).Early feeding was associated with shorter time to the presence of bowel sound (MD -0.32 days, 95% CI -0.61 to -0.03, P = 0.03, 2 RCTs, 338 women, I² = 52%, moderate-quality evidence) and faster onset of flatus (MD -0.21 days, 95% CI -0.40 to -0.01, P = 0.04, 3 RCTs, 444 women, I² = 23%, moderate-quality evidence). In addition, women in the early feeding group resumed a solid diet sooner (MD -1.47 days, 95% CI -2.26 to -0.68, P = 0.0003, 2 RCTs, 301 women, I² = 92%, moderate-quality evidence). There was no evidence of a difference in time to the first passage of stool between the two study groups (MD -0.25 days, 95% CI -0.58 to 0.09, P = 0.15, 2 RCTs, 249 women, I² = 0%, moderate-quality evidence). Hospital stay was shorter in the early feeding group (MD -0.92 days, 95% CI -1.53 to -0.31, P = 0.003, 4 RCTs, 484 women, I² = 68%, moderate-quality evidence). Infectious complications were less common in the early feeding group (RR 0.20, 95% CI 0.05 to 0.73, P = 0.02, 2 RCTs, 183 women, I² = 0%, high-quality evidence). In one study, the satisfaction score was significantly higher in the early feeding group (MD 11.10, 95% CI 6.68 to 15.52, P < 0.00001, 143 women, moderate-quality evidence).
AUTHORS' CONCLUSIONS
Early postoperative feeding after major abdominal gynaecologic surgery for either benign or malignant conditions appeared to be safe without increased gastrointestinal morbidities or other postoperative complications. The benefits of this approach include faster recovery of bowel function, lower rates of infectious complications, shorter hospital stay, and higher satisfaction.
Topics: Drinking; Eating; Female; Food; Genital Neoplasms, Female; Gynecologic Surgical Procedures; Humans; Hysterectomy; Intestinal Pseudo-Obstruction; Nausea; Ovariectomy; Postoperative Care; Postoperative Complications; Randomized Controlled Trials as Topic; Recovery of Function; Time Factors
PubMed: 25502897
DOI: 10.1002/14651858.CD004508.pub4 -
African Journal of Traditional,... 2014This study was aimed at determining the effects and safety of Da-Cheng-Qi decoction (DCQD) or DCQD combined with conservative therapy in patients with intestinal... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
This study was aimed at determining the effects and safety of Da-Cheng-Qi decoction (DCQD) or DCQD combined with conservative therapy in patients with intestinal obstruction.
MATERIALS AND METHODS
PubMed, EMBASE, Cochrane Controlled Trials Register, and several other databases were searched. Randomised controlled trials (RCTs) of DCQD or DCQD plus conservative therapy in patients with intestinal obstruction were eligible. Therapeutic effect was estimated by the improvement of clinical manifestations and diagnostic imaging; dichotomous/ordinal data assessment of overall response to therapy, adverse effects; or continuous variable were identified, including time to first bowel movement, time to first flatus, length of hospital stay.
RESULTS
Sixty eligible RCTs including 6,095 patients were identified. Response rate: (1) DCQD versus conservative therapy (6 RCTs, 361 patients, RR of respond =1.13; 95% CI 0.97 to 1.31). (2) DCQD plus conservative therapy versus conservative therapy (48 RCTs, 4,916 patients, RR of respond =1.25 which favoured DCQD plus conservative therapy; 95% CI 1.20 to 1.30). Treatment effect remained similar when RCTs at high risk of bias were excluded. Time to first flatus postoperatively: (1) DCQD versus conservative therapy (2 RCTs, 240 patients, SMD=-3.65; 95% CI -8.17 to 0.87). (2) DCQD plus conservative therapy versus conservative therapy (11 RCTs, 1,040 patients, SMD=-2.09 which favoured DCQD plus conservative therapy; 95% CI -3.04 to -1.15).
CONCLUSION
DCQD combined with conservative therapy may increase the success rate of conservative therapy for intestinal obstruction significantly and can shorten the duration of postoperative ileus in patients undergoing abdominal surgery compared with conservative therapy alone.
Topics: Citrus; Drugs, Chinese Herbal; Humans; Intestinal Obstruction; Magnolia; Magnoliopsida; Phytotherapy; Postoperative Complications; Rheum
PubMed: 25392589
DOI: 10.4314/ajtcam.v11i4.17 -
Arquivos Brasileiros de Cirurgia... 2014A introdução da técnica laparoscópica em 1985 foi um fator importante na colecistectomia por representar técnica menos invasiva, resultado estético melhor e menor... (Comparative Study)
Comparative Study Meta-Analysis Review
INTRODUCTION
A introdução da técnica laparoscópica em 1985 foi um fator importante na colecistectomia por representar técnica menos invasiva, resultado estético melhor e menor risco cirúrgico comparado ao procedimento laparotômico.
AIM
To compare laparoscopic and minilaparotomy cholecystectomy in the treatment of cholelithiasis.
METHODS
A systematic review of randomized clinical trials, which included studies from four databases (Medline, Embase, Cochrane and Lilacs) was performed. The keywords used were "Cholecystectomy", "Cholecystectomy, Laparoscopic" and "Laparotomy". The methodological quality of primary studies was assessed by the Grade system.
RESULTS
Ten randomized controlled trials were included, totaling 2043 patients, 1020 in Laparoscopy group and 1023 in Minilaparotomy group. Laparoscopic cholecystectomy dispensed shorter length of hospital stay (p<0.00001) and return to work activities (p<0.00001) compared to minilaparotomy, and the minilaparotomy shorter operative time (p<0.00001) compared to laparoscopy. Laparoscopy decrease the risk of postoperative pain (NNT=7) and infectious complications (NNT=50). There was no statistical difference between the two groups regarding conversion (p=0,06) and surgical reinterventions (p=0,27), gall bladder's perforation (p=0,98), incidence of common bile duct injury (p=1.00), surgical site infection (p=0,52) and paralytic ileus (p=0,22).
CONCLUSION
In cholelithiasis, laparoscopic cholecystectomy is associated with a lower incidence of postoperative pain and infectious complications, as well as shorter length of hospital stay and time to return to work activities compared to minilaparotomy cholecystectomy.
Topics: Cholecystectomy, Laparoscopic; Cholelithiasis; Humans; Laparotomy; Randomized Controlled Trials as Topic
PubMed: 25004295
DOI: 10.1590/s0102-67202014000200013 -
Evidence-based Spine-care Journal Apr 2013Study Design Systematic review. Study Rationale To seek out and assess the best quality evidence available comparing opening wedge osteotomy (OWO) and closing wedge... (Review)
Review
Study Design Systematic review. Study Rationale To seek out and assess the best quality evidence available comparing opening wedge osteotomy (OWO) and closing wedge osteotomy (CWO) in patients with ankylosing spondylitis to determine whether their results differ with regard to several different subjective and objective outcome measures. Objective The aim of this study is to determine whether there is a difference in subjective and objective outcomes when comparing CWO and OWO in patients with ankylosing spondylitis suffering from clinically significant thoracolumbar kyphosis with respect to quality-of-life assessments, complication risks, and the amount of correction of the spine achieved at follow-up. Methods A systematic review was undertaken of articles published up to July 2012. Electronic databases and reference lists of key articles were searched to identify studies comparing effectiveness and safety outcomes between adult patients with ankylosing spondylitis who received closing wedge versus opening wedge osteotomies. Studies that included pediatric patients, polysegmental osteotomies, or revision procedures were excluded. Two independent reviewers assessed the strength of evidence using the GRADE criteria and disagreements were resolved by consensus. Results From a total of 67 possible citations, 4 retrospective cohorts (class of evidence III) met our inclusion criteria and form the basis for this report. No differences in Oswestry Disability Index, visual analog scale for pain, Scoliosis Research Society (SRS)-24 score, SRS-22 score, and patient satisfaction were reported between the closing and opening wedge groups across two studies. Regarding radiological outcomes following closing versus opening osteotomies, mean change in sagittal vertical axis ranged from 8.9 to 10.8 cm and 8.0 to 10.9 cm, respectively, across three studies; mean change in lumbar lordosis ranged from 36 to 47 degrees and 19 to 41 degrees across four studies; and mean change in global kyphosis ranged from 38 to 40 degrees and 28 to 35 degrees across two studies. Across all studies, overall complication risks ranged from 0 to 16.7% following CWO and from 0 to 23.6% following OWO. Conclusion No statistically significant differences were seen in patient-reported or radiographic outcomes between CWO and OWO in any study. The risks of dural tear, neurological injury, and reoperation were similar between groups. Blood loss was greater in the closing wedge compared with the opening wedge group, while the risk of paralytic ileus was less. The overall strength of evidence for the conclusions is low.
PubMed: 24436696
DOI: 10.1055/s-0033-1341604 -
La Tunisie Medicale Oct 2013Ogilvie's syndrome is acute colonic dilatation without organic obstacle in a previously healthy colon. Surgery is the only treatment of cases complicated by necrosis or... (Review)
Review
BACKGROUND
Ogilvie's syndrome is acute colonic dilatation without organic obstacle in a previously healthy colon. Surgery is the only treatment of cases complicated by necrosis or perforation. In contrast, treatment of uncomplicated forms is not unanimous, and is the subject of this literature review.
AIMS
Determine the results of different therapeutic methods of uncomplicated forms of Ogilvie's syndrome in terms of efficiency of removal of colonic distension, recurrence, morbidity and mortality. Clarify their respective indications.
METHODS
An electronic literature search in the "MEDLINE" database, supplemented by hand searching on the reference lists of articles, was conducted for the period between 1980 and 2012.
RESULTS
Conservative treatment is effective in 53 to 96% of cases with a risk of colonic perforation less than 2.5% and a mortality of 0 to 14% % (level of evidence 4, recommendation grade C). Neostigmine is effective in 64 to 91% of cases after a first dose, with a risk of recurrence of 0 to 38%. It remains effective in 40 to 100% of cases after a second dose (evidence level 2, grade recommendation B). Endoscopic decompression is a safe and effective technique with a success rate of 61 to 100% at the first attempt , a recurrence rate of 0 to 50%, a rate of colonic perforation less than 5% and a mortality less than 5% (level evidence 4, recommendation grade C). PEG may be recommended for the prevention of recurrence of the ACPO after successful treatment with neostigmine or endoscopic decompression (evidence level 2, recommendation grade B). The cecostomy is more effective and safer than conventional colostomy (level of evidence 4, recommendation grade C). The cecostomy is highly effective in colonic decompression but associated with a high mortality (level of evidence 4, recommendation grade C).
CONCLUSION
Conservative treatment is recommended in first intention. In case of failure, neostigmine should be tried. If unsuccessful, the endoscopic decompression is proposed. The cecostomy is indicated as a last resort after failure of endoscopic decompression.
Topics: Acute Disease; Cecostomy; Colonic Pseudo-Obstruction; Colonoscopy; Endoscopy; Humans; Intestinal Perforation; Treatment Outcome
PubMed: 24281995
DOI: No ID Found -
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