Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.

BACKGROUND: Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period. The concept of genetic factors as an etiology of CGIO has been accepted, but investigations about CGIO have mainly focused on aneuploidy, and the focus has been on duodenal obstruction. The objective of this study was to evaluate the risk of chromosome aberrations (including numeric and structural aberrations) in different types of CGIO. A second objective was to assess the risk of abnormal CNVs detected by copy number variation sequencing (CNV-seq) in fetuses with different types of CGIO. METHODS: Data from pregnancies referred for invasive testing and CNV-seq due to sonographic diagnosis of fetal CGIO from 2015 to 2020 were obtained retrospectively from the computerized database. The rates of chromosome aberrations and abnormal CNV-seq findings for isolated CGIOs and complicated CGIOs and different types of CGIOs were calculated. RESULTS: Of the 240 fetuses with CGIO that underwent karyotyping, the detection rate of karyotype abnormalities in complicated CGIO was significantly higher than that of the isolated group (33.8% vs. 10.8%, p < 0.01). Ninety-three cases with normal karyotypes further underwent CNV-seq, and CNV-seq revealed an incremental diagnostic value of 9.7% over conventional karyotyping. In addition, the incremental diagnostic yield of CNV-seq analysis in complicated CGIOs (20%) was higher than that in isolated CGIOs (4.8%), and the highest prevalence of pathogenic CNVs/likely pathogenic CNVs was found in the duodenal stenosis/atresia group (17.5%), followed by the anorectal malformation group (15.4%). The 13q deletion, 10q26 deletion, 4q24 deletion, and 2p24 might be additional genetic etiologies of duodenal stenosis/atresia. CONCLUSIONS: The risk of pathogenic chromosomal abnormalities and CNVs increased in the complicated CGIO group compared to that in the isolated CGIO group, especially when fetuses presented duodenal obstruction (DO) and anorectal malformation. CNV-seq was recommended to detect submicroscopic chromosomal aberrations for DO and anorectal malformation when the karyotype was normal. The relationship between genotypes and phenotypes needs to be explored in the future to facilitate prenatal diagnosis of fetal CGIO and yield new clues into their etiologies.

Congenital peritoneal encapsulation: A review and novel classification system.

Congenital peritoneal encapsulation (CPE) is a very rare, congenital condition characterised by the presence of an accessory peritoneal membrane which encases a variable extent of the small bowel. It is unclear how CPE develops, however it is currently understood to be a result of an aberrant adhesion in the peritoneal lining of the physiological hernia in foetal mid-gut development. The condition was first described in 1868, and subsequently there have been only 45 case reports of the phenomenon. No formal, systematised review of CPE has yet been performed, meaning the condition remains poorly understood, underdiagnosed and mismanaged. Diagnosis of CPE remains clinical with important adjuncts provided by imaging and diagnostic laparoscopy. Two thirds of patients present with abdominal pain, likely secondary to sub-acute bowel obstruction. A fixed, asymmetrical distension of the abdomen and differential consistency on abdominal palpation are more specific clinical features present in approximately 10% of cases. CPE is virtually undetectable on plain imaging, and is only detected on 40% of patients with computed tomography scan. Most patients will undergo diagnostic laparotomy to confirm the diagnosis. Management of CPE includes both medical management of the critically-unstable patient and surgical laparotomy, partial peritonectomy and adhesiolysis. Prognosis following prompt surgical treatment is excellent, with a majority of patients being symptom free at follow up. This review summarises the current literature on the aetiology, diagnosis and treatment of this rare disease. We also introduce a novel classification system for encapsulating bowel diseases, which may distinguish CPE from the commoner, more morbid conditions of abdominal cocoon and encapsulating peritoneal sclerosis.

An expert consensus to standardise definitions, diagnosis and treatment targets for anti-fibrotic stricture therapies in Crohn's disease.

BACKGROUND: Fibrotic stricture is a common complication of Crohn's disease (CD) affecting approximately half of all patients. No specific anti-fibrotic therapies are available; however, several therapies are currently under evaluation. Drug development for the indication of stricturing CD is hampered by a lack of standardised definitions, diagnostic modalities, clinical trial eligibility criteria, endpoints and treatment targets in stricturing CD. AIM: To standardise definitions, diagnosis and treatment targets for anti-fibrotic stricture therapies in Chron's disease. METHODS: An interdisciplinary expert panel consisting of 15 gastroenterologists and radiologists was assembled. Using modified RAND/University of California Los Angeles appropriateness methodology, 109 candidate items derived from systematic review and expert opinion focusing on small intestinal strictures were anonymously rated as inappropriate, uncertain or appropriate. Survey results were discussed as a group before a second and third round of voting. RESULTS: Fibrotic strictures are defined by the combination of luminal narrowing, wall thickening and pre-stenotic dilation. Definitions of anastomotic (at site of prior intestinal resection with anastomosis) and naïve small bowel strictures were similar; however, there was uncertainty regarding wall thickness in anastomotic strictures. Magnetic resonance imaging is considered the optimal technique to define fibrotic strictures and assess response to therapy. Symptomatic strictures are defined by abdominal distension, cramping, dietary restrictions, nausea, vomiting, abdominal pain and post-prandial abdominal pain. Need for intervention (endoscopic balloon dilation or surgery) within 24-48 weeks is considered the appropriate endpoint in pharmacological trials. CONCLUSIONS: Consensus criteria for diagnosis and response to therapy in stricturing Crohn's disease should inform both clinical practice and trial design.

Application of the AAST EGS Grade for Adhesive Small Bowel Obstruction to a Multi-national Patient Population.

BACKGROUND: The American Association for the Surgery of Trauma (AAST) anatomic severity grading system for adhesive small bowel obstruction (ASBO) has demonstrated to be a valid tool in North American patient populations. Using a multi-national patient cohort, we retrospectively assessed the validity the AAST ASBO grading system and estimated disease severity in a global population in order to correlate with several key clinical outcomes. METHODS: Multicenter retrospective review during 2012-2016 from four centers, Minnesota USA, Bologna Italy, Pietermaritzburg South Africa, and Bucharest Romania, was performed. Adult patients (age ≥ 18) with ASBO were identified. Baseline demographics, physiologic parameters, laboratory results, operative and imaging details, outcomes were collected. AAST ASBO grades were assigned by independent reviewers. Univariate and multivariable analyses with odds ratio (OR) and 95% confidence intervals (CIs) were performed. RESULTS: There were 789 patients with a median [IQR] age of 58 [40-75] years; 47% were female. The AAST ASBO grades were I (n = 180, 23%), II (n = 443, 56%), III (n = 87, 11%), and IV (n = 79, 10%). Successful non-operative management was 58%. Conversion rate from laparoscopy to laparotomy was 33%. Overall mortality and complication and temporary abdominal closure rates were 2, 46, and 4.7%, respectively. On regression, independent predictors for mortality included grade III (OR 4.4 95%CI 1.1-7.3), grade IV (OR 7.4 95%CI 1.7-9.4), pneumonia (OR 5.6 95%CI 1.4-11.3), and failing non-operative management (OR 2.4 95%CI 1.3-6.7). CONCLUSION: The AAST EGS grade can be assigned with ease at any surgical facility using operative or imaging findings. The AAST ASBO severity grading system has predictive validity for important clinical outcomes and allows for standardization across institutions, providers, and future research. Disease severity and outcomes varied between countries. LEVEL OF EVIDENCE III: Study type Retrospective multi-institutional cohort study.

[The possibilities to improve the outcomes in patients with colon cancer complicated by acute obstruction]. / Lechenie bol'nykh rakom tolstoi kishki, oslozhnennym ostroi kishechnoi neprokhodimost'yu (s kommentariem).

AIM: To improve the outcomes in patients with colon cancer complicated by acute obstruction via development of combined and complex treatment strategies. MATERIAL AND METHODS: We observed 442 patients with colon cancer complicated with acute obstruction. Original classification and diagnostic algorithm were applied. RESULTS: Time of preoperative opening-up, volume and type of surgery were defined using obtained data. Also we are able to perform delayed radical surgery after correction of metabolic disorders and comorbidities, to create the conditions for combined and complex methods of treatment, to decrease the incidence of postoperative complications and mortality rate. CONCLUSION: Three-stage surgery with shortened time between interventions decreases the incidence of anastomosis failure, allows to refuse Hartmann's procedure and to avoid severe reconstructive surgical stage without prolongation of rehabilitation period.

Determination of therapeutic strategy for adhesive small bowel obstruction using water-soluble contrast agents: An audit of 776 cases in a single center.

BACKGROUND: Several studies have investigated the diagnostic and therapeutic role of water-soluble contrast agents in adhesive small bowel obstruction, but there is no clear diagnostic classification for the determination of therapeutic strategy. The aim of this study was to clarify the clinical value of classification using water-soluble contrast agents in patients with adhesive small bowel obstruction. METHODS: Between January 2009 and December 2015, 776 consecutive patients with adhesive small bowel obstruction were managed initially with water-soluble contrast agents and were included in the study. Abdominal x-rays were taken 5 hours after administration of 100 mL water-soluble contrast agents and classified into 4 types. The medical records of the patients with adhesive small bowel obstruction were analyzed retrospectively and divided into 2 groups of patients with complete obstruction (ie, the absence of contrast agent in the colon) with (type I) or without (type II) a detectable point of obstruction and a group with an incomplete obstruction (ie, the presence of contrast agent in the colon) with (type IIIA) or without (type IIIB) dilated small intestine. RESULTS: Types I, II, IIIA, and IIIB were identified in 27, 90, 358, and 301 patients, respectively. The overall operative rate was 16.6%. In the patients treated conservatively (types IIIA and IIIB), 647 patients (98.2%) were treated successfully without operative intervention. The operative rate was 3.4% (n = 12/358) in type IIIA vs 0% (n = 0/301) in the type IIIB group (P = .001). Compared with type IIIA, type IIIB was associated with earlier initiation of oral intake (2.1 vs 2.6 days, P < .001) and a lesser hospital stays (9 vs 11 days, P < .001). CONCLUSION: This new classification using water-soluble contrast agents is a simple and useful diagnostic method for the determination of therapeutic strategy for adhesive small bowel obstruction.

Spectral analysis of bowel sounds in intestinal obstruction using an electronic stethoscope.

AIM: To determine the value of bowel sounds analysis using an electronic stethoscope to support a clinical diagnosis of intestinal obstruction. METHODS: Subjects were patients who presented with a diagnosis of possible intestinal obstruction based on symptoms, signs, and radiological findings. A 3M™ Littmann(®) Model 4100 electronic stethoscope was used in this study. With the patients lying supine, six 8-second recordings of bowel sounds were taken from each patient from the lower abdomen. The recordings were analysed for sound duration, sound-to-sound interval, dominant frequency, and peak frequency. Clinical and radiological data were reviewed and the patients were classified as having either acute, subacute, or no bowel obstruction. Comparison of bowel sound characteristics was made between these subgroups of patients. In the presence of an obstruction, the site of obstruction was identified and bowel calibre was also measured to correlate with bowel sounds. RESULTS: A total of 71 patients were studied during the period July 2009 to January 2011. Forty patients had acute bowel obstruction (27 small bowel obstruction and 13 large bowel obstruction), 11 had subacute bowel obstruction (eight in the small bowel and three in large bowel) and 20 had no bowel obstruction (diagnoses of other conditions were made). Twenty-five patients received surgical intervention (35.2%) during the same admission for acute abdominal conditions. A total of 426 recordings were made and 420 recordings were used for analysis. There was no significant difference in sound-to-sound interval, dominant frequency, and peak frequency among patients with acute bowel obstruction, subacute bowel obstruction, and no bowel obstruction. In acute large bowel obstruction, the sound duration was significantly longer (median 0.81 s vs 0.55 s, P = 0.021) and the dominant frequency was significantly higher (median 440 Hz vs 288 Hz, P = 0.003) when compared to acute small bowel obstruction. No significant difference was seen between acute large bowel obstruction and large bowel pseudo-obstruction. For patients with small bowel obstruction, the sound-to-sound interval was significantly longer in those who subsequently underwent surgery compared with those treated non-operatively (median 1.29 s vs 0.63 s, P < 0.001). There was no correlation between bowel calibre and bowel sound characteristics in both acute small bowel obstruction and acute large bowel obstruction. CONCLUSION: Auscultation of bowel sounds is non-specific for diagnosing bowel obstruction. Differences in sound characteristics between large bowel and small bowel obstruction may help determine the likely site of obstruction.

[Ultrasound of inguinal hernias: morphological classification for a potentially conservative treatment in asymptomatic patients]. / Ultraschall von Leistenhernien: Morphologische Klassifikation für ein potenziell konservatives Vorgehen bei asymptomatischen Patienten.

PURPOSE: By using a standardized ultrasound procedure, it is possible to identify 3 types of hernias, which provide relevant information about the risk of incarceration based on morphological data. Therefore, conservative treatment is possible in asymptomatic patients. The aim of this paper is to demonstrate how the different hernia types are distributed, to evaluate the assessment for the risk of incarceration and to compare this management with "watchful waiting". MATERIALS AND METHODS: Over the last 16 years we performed ultrasound examinations in over 7000 patients with preoperatively inguinal hernia and compared the findings to the intraoperative situs. From 1 / 1 / 2002 - 12 / 31 / 2007 we operated on 2758 patients with an inguinal hernia and treated 425 patients conservatively. Asymptomatic patients were checked annually and symptomatic patients were checked immediately. RESULTS: In all cases there was an exact correlation between the ultrasound description and the intraoperative finding in relation to the 3 hernia types: type A (bulge) 23 %, type B (tube) 55 %, type C (sandclock) 22 %. No case in the conservatively treated group required emergency operation. CONCLUSION: Preoperatively inguinal hernias can be differentiated into 3 types by using sonomorphological criteria. Therefore, safe assessment of the need for operation is possible in asymptomatic patients. This procedure seems to be safer than "watchful waiting".

Taxonomy and imaging spectrum of small bowel obstruction after Roux-en-Y gastric bypass surgery.

OBJECTIVE: For most patients with morbid obesity, bariatric surgery is the only effective method to achieve sustainable weight loss. Small bowel obstruction (SBO) after bariatric surgery is a major complication that affects postoperative course and management. Knowledge of the types of and imaging findings for SBO is essential to prompt diagnosis. CONCLUSION: We discuss different types of SBO and a taxonomic schemata of bowel obstruction (ABC classification) and present a review of imaging findings that facilitates optimal patient management.

The ABC System: a simplified classification system for small bowel obstruction after laparoscopic Roux-en-Y gastric bypass.

Small bowel obstruction (SBO) after bariatric surgery is well documented. Although infrequent, it can be associated with considerable morbidity and mortality. The laparoscopic approach to Roux-en-Y gastric bypass (LRYGB) has gained widespread popularity for the treatment of morbid obesity since its first description in 1994. One of the theoretical advantages of a minimally invasive technique is reduced intraabdominal adhesions and, consequently, diminution in the incidence of SBO. However, the laparoscopic approach demonstrates a similar rate of obstruction to the open procedure. In this review, an electronic literature search was undertaken of Medline, Embase, and Cochrane databases for the period January 1990 to October 2006 on the history, presentation, clinical evaluation, preoperative diagnostic techniques, and management of SBO after LRYGB compared to the open approach.

[Treatment of tumoral colonic obstruction].

The work was devoted to problems of treatment of patients with cancer of the colon complicated by tumoral colonic obstruction. The authors propose an improved clinical classification of disturbances of colonic obstruction with colorectal cancer. The questions discussed are: decision on the strategy of treatment of acute colonic obstruction patients, the possible differential approach to choosing methods of treatment depending on localization of tumor and duration of the period of the development of intestinal obstruction. The results of treatment of 148 patients with colorectal cancer complicated by acute colonic obstruction are analyzed. It was shown that in 20% of patients with the initial stage of obstruction with the tumor localized in the left half of the colon it was possible to resolve the obstruction by conservative measures followed by the preparation of the patients to planned operation.

Urgencia gastrointestinal en pediatría / Emergency gastrointestinal in pediatric

Paciente de 23 días de vida con vómitos biliosos de 24 horas de evolución, sin antesedentes perinatológicos de importancia

Urgencia gastrointestinal en pediatría / Emergency gastrointestinal in pediatric

Paciente de 23 días de vida con vómitos biliosos de 24 horas de evolución, sin antesedentes perinatológicos de importancia

[Small bowel obstruction from adhesions: which CT severity criteria to research?]. / Occlusion du grêle sur bride: quels critères scanographiques de gravité rechercher?

PURPOSE: To determine the value of known computed tomographic (CT) criteria to differentiate non-complicated from complicated (strangulation, necrosis) small bowel obstruction. MATERIALS AND METHODS: 43 patients with a definitive diagnosis of small bowel obstruction based on clinical, sonographic, CT, surgical and pathological findings were included. All patients had small bowel obstruction caused by adhesions confirmed at surgery. The obstruction was non-complicated in 28 patients and complicated in 15 patients. The CT examinations from all patients were retrospectively reviewed by three experienced radiologists using a set of pre-defined criteria. Attention was focused on the following signs: reduced enhancement of the small bowel wall, mural thickening, congestion of small mesenteric veins, and ascites. Results were correlated with surgical and/or pathological data. RESULTS: For the diagnosis of complicated obstruction, reduced bowel wall enhancement had a sensitivity of 57% and a specificity of 100%, a bowel wall thickness greater than 3 mm had a sensitivity of 35% and a specificity of 100% and a bowel wall thickness less than 1 mm had a sensitivity of 35% and a specificity of 93%. Ascites and congestion of small mesenteric veins were not significant. The multivariate analysis showed that the association of bowel-wall thickening and reduced enhancement of the small bowel wall was significant (sensitivity of 71%, specificity 100%, and accuracy 90%). CONCLUSION: Among the CT criteria used to diagnose complications from small-bowel obstruction that were evaluated in this study, only three were significant with a high specificity but low sensitivity.