Gastrointestinal dysmotility complicating Behçet's syndrome: description of a newly recognised clinical phenotype.

OBJECTIVES: Gastrointestinal dysmotility may arise in a variety of auto-immune and auto-inflammatory diseases and hitherto has not been described in Behçet's syndrome (BS). METHODS: We present data on a cohort of seven patients under our care who presented with symptoms of and investigations compatible with an immune associated disorder of gastrointestinal motility, or enteric neuropathy. RESULTS: We describe the clinical features and investigation results. We undertook a trial of a novel treatment in the disease, apheresis, and noted a response not only to the enteric neuropathy but also to the systemic features of the disease, despite previous maximal immunosuppressive therapy in most cases. CONCLUSIONS: Gastrointestinal dysmotility may arise in BS and is effectively treated by apheresis. The mechanism by which this response is made immunologically requires to be elucidated in future studies.

The efficacy and results of medical treatment in postoperative ileus.

Background: Postoperative paralytic ileus refers to the disruption of the normal coordinated propulsive motor activity of the gastrointestinal system following surgery. Surgery causes inflammation in the muscle walls of organs with an intestinal lumen that, in turn, leads to a decrease in intestinal motility. Aim: The aim of this study was to investigate the efficacy of gastrografin, neostigmine, and their combined administration in patients diagnosed with paralytic ileus in the postoperative period. Patients and Methods: One-hundred twelve patients were included from January 2017 and November 2019. The retrospective study is involving prolonged postoperative ileus cases following colorectal surgery. The effect of gastrografin, neostigmine, and gastrografin neostigmine combination was compared retrospectively in the treatment of prolonged ileus after surgery. Results: The study covered 112 patients. Gastrografin was administered to 63 patients; neostigmine was administered to 29, while 20 patients received the combination of the two. Data pertaining to the comparison of the two groups revealed that patients in the gastrografin group were discharged earlier than those in the neostigmine group. Further, patients in the combined group had earlier gas and/or stool discharge and were also discharged from the hospital earlier than those in the neostigmine group. Conclusion: Gastrografin and combined use of gastrografin and neostigmine are effective and viable methods for postoperative ileus cases. Gastrografin can safely be used in patients with anastomoses.

Impact of post-operative paralytic ileus on post-operative outcomes after surgery for colorectal cancer: a single-institution, retrospective study.

PURPOSE: Post-operative paralytic ileus (POI) occurs after surgery because of gastrointestinal dysfunction caused by surgical invasion. We therefore investigated the frequency of POI after laparoscopic colorectal surgery in patients with colorectal cancer using a strictly defined POI diagnosis and identified associated risk factors. METHODS: Patients who underwent initial laparoscopic surgery for colorectal cancer between January 2014 and December 2018 were included. The primary end point was the incidence of POI. A multivariate logistic regression analysis revealed the contributing risk factors for POI. RESULTS: Of the 436 patients, 94 (21.6%) had POI. Compared with the non-POI group, the POI group had significantly higher frequencies of infectious complications (p < 0.001), pneumonia (p < 0.001), intra-abdominal abscess (p = 0.012), anastomotic leakage (p = 0.016), and post-operative bleeding (p = 0.001). In the multivariate analysis, the right colon (odds ratio [OR] 2.180, p = 0.005), pre-operative chemotherapy (OR 2.530, p = 0.047), pre-operative antithrombotic drug (OR 2.210, p = 0.032), and post-operative complications of CD grade ≥ 3 (OR 12.90, p < 0.001) were independent risk factors for POI. CONCLUSION: Post-operative management considering the risk of post-operative bowel palsy may be necessary for patients with right colon, pre-operative chemotherapy, pre-operative antithrombotic drug or severe post-operative complications.

Use of pediatric donor en bloc kidneys along with bladder segment in pediatric liver-kidney and multivisceral-kidney transplantation.

The combination of pediatric multivisceral and kidney transplantation leads to additional recipient risks due to the number of anastomoses and to the small sizes of donor structures. The inclusion of donor kidneys, ureters, and a bladder patch en bloc with multivisceral organs decreases the number and complexity of anastomoses and has not yet been reported. Four patients were transplanted in this fashion; three underwent multivisceral-kidney and one underwent liver-kidney transplantation. The first patient was a 3-year-old male with polycystic kidney disease and congenital hepatic fibrosis. The second was a 7-year-old female with complications from necrotizing enterocolitis. The third was a 12-month-old male with megacystis microcolon intestinal hypoperistalsis syndrome and secondary hydronephrosis, and the fourth was a 3-year-old male with multiple intestinal resections secondary to incarcerated hernia. The third patient developed a right ureteral stenosis with an intact bladder patch. The fourth child expired from maintained abdominal sepsis. The first 3 patients maintained normal graft function. There were no cases of thrombosis, arterial stenosis, or urinary leakages. These reported cases demonstrate that small pediatric en bloc transplantation of the multivisceral organs and dual kidneys with a bladder patch anastomosis is a feasible and less complex alternative to the standard procedure.

Systematic unenhanced CT for acute abdominal symptoms in the elderly patients improves both emergency department diagnosis and prompt clinical management.

OBJECTIVES: To assess the added-value of systematic unenhanced abdominal computed tomography (CT) on emergency department (ED) diagnosis and management accuracy compared to current practice, in elderly patients with non-traumatic acute abdominal symptoms. METHODS: Institutional review board approval and informed consent were obtained. This prospective study included 401 consecutive patients 75 years of age or older, admitted to the ED with acute abdominal symptoms, and investigated by early systematic unenhanced abdominal CT scan. ED diagnosis and intended management before CT, after unenhanced CT, and after contrast CT if requested, were recorded. Diagnosis and management accuracies were evaluated and compared before CT (clinical strategy) and for two conditional strategies (current practice and systematic unenhanced CT). An expert clinical panel assigned a final diagnosis and management after a 3-month follow-up. RESULTS: Systematic unenhanced CT significantly improved the accurate diagnosis (76.8% to 85%, p=1.1x10-6) and management (88.5% to 95.8%, p=2.6x10-6) rates compared to current practice. It allowed diagnosing 30.3% of acute unsuspected pathologies, 3.4% of which were unexpected surgical procedure requirement. CONCLUSIONS: Systematic unenhanced abdominal CT improves ED diagnosis accuracy and appropriate management in elderly patients presenting with acute abdominal symptoms compared to current practice. KEY POINTS: • Systematic unenhanced CT improves significantly diagnosis accuracy compared to current practice. • Systematic unenhanced CT optimizes appropriate hospitalization by increasing the number of discharged patients. • Systematic unenhanced CT allows detection of about one-third of acute unsuspected abdominal conditions. • It should allow boosting emergency department management decision-making confidence in old patients.

Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene.

OBJECTIVES: The diagnosis of chronic intestinal pseudo-obstruction has depended on clinical features, manometry, and imaging. This report aimed to determine the efficacy of sequencing the actin γ-2 (ACTG2) gene for diagnosis. In addition, the goal was to determine how often a mutation would be found in our randomly collected cohort of probands and those probands published previously. METHODS: Whole exome sequencing was performed in 4 probands with chronic intestinal pseudo-obstruction. Subsequently, only the ACTG2 gene was sequenced in another 24 probands (total 28). We analyzed published data of 83 probands and our 28 (total 111) and determined how many had pathogenic variants and the precise genotype. RESULTS: Whole exome and Sanger sequencing revealed a pathogenic variant in the ACTG2 gene in 4 out of 28 of our probands and in 45 out of 83 published probands (49/111 [44.1%]). Moreover, a mutational hotspot in the ACTG2 gene was recognized. Genetic heterogeneity is evident. CONCLUSIONS: Pooled gene sequencing results from 1 individual in each of 111 families enabled a precise diagnosis of an ACTG2 mutation in 49 (44%). The benefit to patients and families of early confirmation of a motility disorder not only helps avoid unnecessary intervention, but also enables institution of appropriate treatments and avoidance of secondary disorders such as malnutrition and poor growth. Knowledge of a pathogenic variant in a parent, with a 50% risk of recurrence, provides an opportunity for genetic counseling.

Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature.

INTRODUCTION: Familial visceral myopathy (VM) is a rare genetic disease that affects intestinal motility and results in pseudo-obstruction. Medical treatments can provide supportive measures but no curative treatment. CASE REPORT: A 20-year-old male with known diagnosis of VM was referred to our Unit in May 2013 with recurrent episodes of vomiting and hospital admissions not responding to medical treatment. Pre-operative imaging showed megaduodenum with marked delayed transit and normal small and large bowel transit. He underwent an elective Roux-en-Y duodeno-jejunostomy. The post-operative course was uneventful with complete resolution of the symptoms with a 2 years follow-up. DISCUSSION: Due to the early age of presentation, VM affects patient both psychologically and physically. Surgical treatment of megaduodenum in visceral myopathy in the absence of motility disorder of the small bowel seems to achieve satisfactory symptomatic relief and could be considered in this rare cohort of patients.

The use of renal replacement therapy in critically ill pediatric small bowel transplantation candidates and recipients: Experience from one center.

Outcomes for pediatric SBT patients requiring perioperative RRT in the PICU remain unknown. The objectives were to document our center's experience with PICU SBT patients receiving perioperative RRT and to identify variables predictive of survival to discharge. A retrospective chart review of patients (ages, 0-18 yr) between January 1, 2000 and December 31, 2011 that received RRT within a SBT perioperative period and were transplanted at our university-affiliated, tertiary care children's hospital was performed. Six SBT patients received perioperative RRT (ages, 5-12 yr). Three patients (50%) survived to hospital discharge. Among survivors, RRT was required for a total of 1-112 days (mean, 49.7 days). All three survivors survived to hospital discharge without renal transplantation and free of RRT. There was a trend toward increased survival among older patients receiving RRT (p = 0.05). Survivors had a higher I-125 GFR prior to PICU admission (p = 0.045). A higher I-125 GFR prior to PICU admission among survivors may support this test's utility during SBT evaluation. In our experience, a high survival rate and freedom from RRT at the time of discharge support RRT use in the SBT population.

Reevaluation of acetylcholinesterase staining for the diagnosis of Hirschsprung disease and allied disorders.

OBJECTIVES: Acetylcholinesterase (AChE) staining has become the gold standard for definitively diagnosing Hirschsprung disease (HD), although some pitfalls have been reported. We reevaluated a large series at our institute in order to validate the accuracy of AChE staining for detecting HD. METHODS: A retrospective study of the rectal mucosal specimens of all of the children with suspected HD during a 13-year period was performed. The specimens were stained according to the modified Karnovsky-Roots method for AChE staining. The final diagnosis, prognosis, and management after the histopathological diagnosis were analyzed with a questionnaire sent to the patient's original hospital. RESULTS: Three hundred and fifty-eight specimens were collected. One hundred twenty-two (34%) specimens were diagnosed as HD, 198 (55%) as nonHD, 25 (7%) as "undetermined," and 13 (4%) as "inappropriate." The non-HD group contained 190 (96%) specimens with a normal appearance and 8 (4%) specimens with suspected intestinal neuronal dysplasia (IND). Three hundred and six of 358 questionnaires were returned. The final diagnosis showed that no specimens first diagnosed as HD were identified as non-HD and vice versa, for a sensitivity and specificity of 100%. Four cases were finally diagnosed as chronic idiopathic intestinal pseudo-obstruction (CIIP) in the non-HD group. All of the patients with HD underwent radical surgery. Most non-HD patients were managed conservatively, although some continued to have constipation. CONCLUSIONS: AChE staining is an accurate tool for differentiating between HD and non-HD with high sensitivity and specificity. CIIP can be included in cases of non-HD; therefore, careful follow-up is mandatory.

Transgastric long tube placement following percutaneous endoscopic gastrostomy for severe chronic intestinal pseudo-obstruction related to systemic sclerosis.

Medical management of systemic sclerosis (SSc)-associated chronic intestinal pseudo- obstruction (CIPO) has often proved inadequate. Percutaneous endoscopic colostomy (PEC) has been proposed as a method of treatment, but it is associated with a relatively high incidence of serious complications. We report herein a very severe case of SSc-associated CIPO in which complications were successfully controlled by long tube placement via a gastrostomy. Transgastric long tube placement may offer a relatively safe alternative to PEC in treating severe SSc-associated CIPO.

Intractable diarrhea of infancy: 10 years of experience.

OBJECTIVES: Intractable diarrhea of infancy (IDI), a group of prolonged diarrheal disorders, is difficult to diagnose and manage. We documented general features of patients and the causes of IDI. METHODS: The present retrospective study included 60 hospitalized patients with IDI ages 0 to 24 months during January 2000 to December 2010. Detailed history, laboratory and endoscopic findings, diagnoses, and clinical courses were reviewed. Descriptive analyses were used for statistical evaluation. RESULTS: The male/female ratio was 1.4. The median age at onset of diarrhea was 12 days. A total of 70% and 11% of patients were severely and moderately malnourished, respectively. Carbohydrate malabsorption (CM) and food allergies (n = 11, 18% for both) were the most frequent causes. A total of 16 of the patients (27%) did not have a specific diagnosis. The other diagnoses were infections (n = 5), immune-mediated disorders (IMD) (n = 6), congenital enterocyte defects (CED) (n = 3, 5%), short bowel syndrome (n = 2), cystic fibrosis (n = 2), intestinal pseudoobstruction (n = 1), congenital disorder of glycosylation (n = 1), abetalipoproteinemia (n = 1), and proprotein convertase (PC) 1 deficiency (n = 1). Stool calprotectin level was high in 10 of 19 patients with Crohn disease (n = 3, mean 1116 ± 851 mg/L), food allergy (n = 4, mean 516 ± 288 mg/L), and undefined etiology (n = 3, mean 616 ± 780 mg/L). The mean duration of hospitalization was 76 days. CONCLUSIONS: IDI is a heterogeneous group of diarrheal disorders. The most frequent causes were CM and food allergies in our study. Because high levels of calprotectin support inflammation, calprotectin levels may help to discriminate CED and inflammatory causes of IDI.

[Digestive system disease as manifestation of the pleiotropic action of genes in mitochondrial dysfunction].

Defined involvement lesions of the digestive system of clinical manifestations of mitochondrial dysfunction associated with both point mutations and polymorphism of mitochondrial DNA. The nature of the clinical signs of mtDNA polymorphisms carriers--multi organical, a progressive, clinical polymorphism, genetic heterogeneity with predominant involvement of energotropic bodies (cerebrum, cordis, hepatic). Set individual nosological forms of mitochondrial dysfunctions--syndromes Leia, Leber, Cairns, Sarah, MERRF, MELAS, NARP, MNGIE confirmed by clinical and genetic, morphological, biochemical, enzymatic, molecular genetics methods. It was found that 84-88% of these syndromes involving the violation of the digestive system with varying degrees of injury. This damage will be the first in the complex chain signs recovery which determines the direction of early rehabilitation.

Progressive multifocal leukoencephalopathy with gastrointestinal disease in a pediatric kidney transplant recipient.

PML is a demyelinating disease of the central nervous system caused by infection with JCV. Several cases of PML in bone marrow and solid organ transplant recipients have been reported in recent years. JCV has been isolated from the gastrointestinal mucosa of immunocompromised patients, but there are no published reports of PML associated with symptomatic gastrointestinal involvement in kidney transplant recipients. We report a case of a nine-yr-old girl with a kidney transplant who developed a severe gastrointestinal illness causing pseudo-obstruction in association with PML. JCV was suspected as the causative agent in this patient by the detection of high JCV titer through PCR analysis of the cerebrospinal fluid and blood and positive staining for simian virus 40 in the colon. JCV intestinal infection should be considered in kidney transplant recipients presenting with intestinal pseudo-obstruction.

Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome.

We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding the pathogenesis of MMIHS.

Gallstone ileus: a rare cause of intestinal obstruction -- case report and literature review.

Gallstone ileus is an uncommon complication of cholelithiasis with a high morbidity and mortality rate. We report a rare case of small bowel gallstone obstruction in an 87-year-old female patient with cholecystoduodenal fistula. We performed an enterolithotomy, repair of fistula and cholecystectomy. During the postoperative course a wound dehiscence appeared, which required suturing and prolonged hospitalisation. We review the diagnostic and therapeutic aspects, given that the diagnosis of this condition is usually difficult and often made intraoperatively.In fact, here is no standard surgical procedure for this disease. The one-stage procedure should be reserved for stabilized patients, but in cases with associated comorbidities,only enterolithotomy can represent the best option..