Intestinal Malformations Research Articles

Clinical characteristics and risk factors for acute abdomen in patients with abdominal lymphatic malformations

ObjectiveThe diagnosis of abdominal lymphatic malformations (ALMs) is often overlooked in clinical practice. However, reports in the literature about ALMs are limited to case reports and series with small sample sizes. This study aimed to review our currently available data to describe the clinical characteristics of ALMs and evaluate the risk factors for acute abdomen caused by ALMs. MethodsWe reviewed the records of patients with ALMs who were diagnosed between December 2008 and January 2023 in our institution. The associations between acute abdomen and ALMs were analyzed based on single-factor and multivariate logistic regression analyses. ResultsThis study included 345 patients with pathologically confirmed ALMs, with a slight female predominance of 1:1.4. Approximately 39.1% (135/345) of patients were asymptomatic, and 24.6% (85/345) presented with acute abdomen. Among the ALMs in the cohort, 42.6% (147/345) were retroperitoneal lymphatic malformations (LMs). The maximal lesion dimensions in patients with acute abdomen and nonacute abdomen were 10.0 cm and 7.8 cm, respectively, with no significant difference based on multivariate analyses. Children were more likely to develop acute abdomen than adults were (P = .002; odds ratio, 5.128; 95% confidence interval, 1.835-14.326). ALMs accompanying acute abdomen were more common for lesions involving the small intestinal mesentery (P = .023; odds ratio, 2.926; 95% confidence interval, 1.157-7.400). ConclusionsALMs are rare with an insidious onset, and retroperitoneal LMs are the most common ALMs, followed by jejunal mesenteric LMs. Our retrospective analysis suggested that young age and small intestinal mesenteric lymphatic malformation are independent risk factors for acute abdomen with ALMs.

Клінічна симптоматика агангліонозу кишечника та його ускладнень у дітей віком від 3 до 6 років

Clinical symptoms of colonic aganglionosis (CA) in children 3 to 6 years of age are difficult due to its clinical presentation which represents as the complications of this pathology, because of it the classic signs of Hirschsprung’s disease (HD) are partially eliminated or hidden, which makes it difficult for the effective diagnosis of this pathology in these children. Purpose - to study the clinical symptoms of CA and its complications in children 3 to 6 years of age and to determine the significance of clinical symptoms for the verification of HD. Materials and methods. We have done retrospective analysis of the clinical manifestations in 240 children 3 to 6 years of age with HD, considering the extent of CA, the presence of associated malformations and complications. There were 95 (39.58%) patients with the rectal form of CA, 143 (59.59%) with the rectosigmoid form, 2 (0.83%) with the subtotal form. There were no patients with total CA in this age group. There were 192 boys (80.0%), and 48 girls (20.0%). At the age of 3-4 years 71 (29.58%) patients were diagnosed with HD, at the age of 4-5 years - 79 (32.91%), and at the age of 5-6 years - 90 (37.51%) patients. Results. The diagnosis of HD can be of course considered as late for patients from 3 to 6 years of age. We found associated malformations in 45 (18.75%) patients. Associated intestinal malformations were found in 26 (10.83%) patients, of which 19 (7.92%) had malformations that significantly increased the clinical symptoms of CA and its complications: malrotation (n=17 (7.08%)) and internal abdominal hernia (2 (0.83%)). Enterocolitis (EC) was found in 98 (40.83%) patients. The 1st degree of EC was established in 9 (3.75%) children, 2nd degree - in 34 (14.16%) and 3rd degree - in 55 (22.91%) patients. Among these 55 with 3rd degree of EC the critical moment in the progression of the course of EC was toxic megacolon (TM), which occurred in 14 (25.46%). Hypotrophy was established in 18 (7.49%) patients. Anemia of various degrees was diagnosed in 35 (14.58%) children. The acute stage of the course of HD was diagnosed in 98 (40.83%) patients, subacute - in 77 (32.08%) and chronic - in 65 (27.08%) children. The clinical course of HD was correlated with the extent of the colon affected with CA and is closely related to the presence of its complications: EC, anemia and hypotrophy. Conclusions. Clinical symptoms of CA in children aged 3 to 6 years remains typical and informative upon careful evaluation of complaints, medical history, and objective and laboratory results. The severity of the course, associated developmental malformations and late diagnosis are the main reasons for the appearance of severe complications of HD in children 3 to 6 years of age - EC (40.83%), TM (25.46%), hypotrophy (7.49%) and anemia (14.58%). Variants of complications in CA are characteristic and predictable. Comparison of the clinical signs of CA and its complications contribute to the correct assessment of the patient's condition and timely establishment of the correct diagnosis. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of all institutions mentioned in the work. Informed consent of the children’s parents was obtained for the research. No conflict of interests was declared by the authors.

A100 HEREDITARY HEMORRHAGIC TELANGIECTASIA: MORE THAN JUST ANOTHER RECTAL BLEED

Abstract Background Hereditary hemorrhagic telangiectasia (HHT), previously known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterized by widespread telangiectasia and visceral arteriovenous (AV) malformations. Diagnosis of HHT is commonly guided by The Curaçao Diagnostic Criteria. Molecular genetics can help confirm the clinical diagnosis. Genes involved include ENG, ACVRL1, SMAD4, and GDF2, which affect the bone morphogenic protein signaling pathway important in maintaining vascular endothelial integrity. Aims This report aims to review the case of a young male from a rural community in Northern Alberta with a possible new diagnosis of HHT, presenting with rectal bleeding in the setting of family history of telangiectasias. Methods Retrospective review of one patient. Results We report the case of a 33-year-old male who presented with a 1-day history of rectal bleeding (bright red turning to black) with hemoglobin at 116g/L. Past medical history was significant for occasional epistaxis since age 8, previous gastrointestinal bleed and laparotomy with pathology showing small intestinal vascular malformation at the age of 15, and small bowel obstruction secondary to adhesions requiring resection at the age of 26. There was no history of iron deficiency anemia. Family history was positive for a mother who had Von Willebrand disease and partial colectomy at the age of 28 due to bowel telangiectasias. His mother had no formal HHT diagnosis, but it was unclear if molecular genetics had been performed. Inpatient colonoscopy showed no culprit lesions but free-floating blood clots throughout the colon (Image). EGD and push enteroscopy were normal. CT enterography was then performed showing AV fistula in the distal ileum and venous malformations in the jejunum. Video capsule endoscopy followed revealed a few non-bleeding telangiectasia and petechiae. The patient was assessed to have possible HHT by The Curaçao Diagnostic Criteria. He was supplemented with IV iron and started on short-acting octreotide. On discharge, he received funding approval for long-acting octreotide and was referred to the Edmonton HHT clinic for follow up and further screening. Conclusions HHT remains underdiagnosed in both children and adults. Maintaining a strong suspicion and prompt diagnosis via the Curaçao Criteria is crucial for appropriate screening of the multisystem complications which stem from the AV malformations. This multidisciplinary approach can aid in reducing morbidity and mortality. Funding Agencies None

2,4-D-based herbicide underdoses cause mortality, malformations, and nuclear abnormalities in Physalaemus cuvieri tadpoles

Amphibians are considered bioindicators of the environment due to their high sensitivity and involvement in terrestrial and aquatic ecosystems. In the last two decades, 2,4-D has been one of the most widely used herbicides in Brazil and around the world, as its use has been authorized for genetically modified crops and therefore has been detected in surface and groundwater. Against this background, the aim of this work was to investigate the effects of environmentally relevant concentrations of 2,4-D-based herbicides on survival, malformations, swimming activity, presence of micronuclei and erythrocyte nuclear abnormalities in Physalaemus cuvieri tadpoles. The amphibians were exposed to six concentrations of 2,4-D-based herbicides: 0.0, 4.0, 30.0, 52.5, 75.0, and 100 μg L−1, for 168 h. At concentrations higher than 52.5 μg L−1, significantly increased mortality was observed from 24 h after exposure. At the highest concentration (100 μg L−1), the occurrence of mouth and intestinal malformations was also observed. The occurrence of erythrocyte nuclear abnormalities at concentrations of 30.0, 52.5, 75.0 and 100 μg L−1 and the presence of micronuclei at concentrations of 52.5, 75.0, and 100 μg L−1 were also recorded. These effects of 2,4-D in P. cuvieri indicate that the ecological risk observed at concentrations above 10.35 μg L−1 2,4-D may represent a threat to the health and survival of this species, i.e., exposure to 2,4-D at concentrations already detected in surface waters in the species' range is toxic to P. cuvieri.

Analysis of Bifidobacterium animalis subsp. lactis BB-12 ® and Lactobacillus rhamnosus GG on underweight and malabsorption in premature infants.

This study aimed to explore and analyze the therapeutic effect of the combination of Bifidobacterium animalis subsp. lactis BB-12® and Lactobacillus rhamnosus GG on underweight and malabsorption in premature infants. This is a retrospective study. The clinical data of 68 premature infants admitted to Beijing United Family Hospital (Private Secondary Comprehensive Hospital, Chaoyang District, Beijing, China) from January 2016 to January 2022 were analyzed retrospectively. Preterm infants less than 37 weeks of gestational age admitted to the neonatal intensive care unit were included in the study. Patients with intestinal malformations, necrotizing enterocolitis, etc., who require long-term fasting were excluded. A telephone follow-up was performed 3-6 months after discharge. They were classified as treatment groups A and B according to the treatment plan. The treatment group A included parenteral nutrition, enteral nutrition, etc. In treatment group B, based on treatment group A, the premature infants were treated with Bifidobacterium animalis subsp. lactis BB-12® and Lactobacillus rhamnosus GG. The time to regain birthweight and the weight on day 30 were compared between the two groups, as was the duration of transition from parenteral nutrition to total enteral nutrition. The time of weight regain birthweight in group B was shorter than that in group A (t=-2.560; t=-4.287; p<0.05). The increase of weight on day 30 in group B was significantly higher than that in group A (t=2.591; t=2.651; p<0.05). The time from parenteral nutrition to total enteral nutrition in group B was shorter than that in group A (z=-2.145; z=-2.236; p<0.05). In the treatment of premature infants, the combination of Bifidobacterium animalis subsp. lactis BB-12® and Lactobacillus rhamnosus GG can have a better therapeutic effect on the underweight and malabsorption of premature infants, and this treatment method can be popularized in clinics.

S3156 Balloon Enteroscopy Guided Multi-Band Ligation for Treatment of Refractory Bleeding Due to Intestinal Arteriovenous Malformations

S3156 Balloon Enteroscopy Guided Multi-Band Ligation for Treatment of Refractory Bleeding Due to Intestinal Arteriovenous Malformations

Establishment and identification of an animal model of Hirschsprung disease in suckling mice

BackgroundHirschsprung disease (HSCR) is a congenital intestinal malformation. Previous HSCR animal model needs invasive operation on adult animal. The aim of this study is to establish an early-onset animal model which is consistent with the clinical manifestation of HSCR patients.MethodsThe neonatal mice were randomly divided into the benzalkonium chloride (BAC) group, treated with BAC via enema, and the control group, treated with saline. Weight changes, excretion time of carmine, CT scan, hematoxylin-eosin staining and immunofluorescence staining were used to evaluate the effect of the model. Differentially expressed genes (DEGs) in the HSCR mice were analyzed by using DAVID 6.8 database and compared with DEGs from HSCR patients.ResultsThe weight of mice was lower and the excretion time of carmine was longer in the BAC group. Moreover, distal colon stenosis and proximal colon enlargement appeared in the BAC group. Neurons in the distal colon decreased significantly after 4 weeks of BAC treatment and almost disappeared completely after 12 weeks. Transcriptome profiling of the mouse model and HSCR patients is similar in terms of altered gene expression.ConclusionsAn economical and reliable HSCR animal model which has similar clinical characteristics to HSCR patients was successfully established.ImpactThe animal model of Hirschsprung disease was first established in BALB/c mice.This model is an animal model of early-onset HSCR that is easy to operate and consistent with clinical manifestations.Transcriptome profiling of the mouse model and HSCR patients is similar in terms of altered gene expression.

Giant teratoma with isolated intestinal duplication in adult: A case report and review of literature

A combination of diseases is a rare phenomenon. Their clinical manifestations can vary, and the diagnosis can be challenging. Intestinal duplication is a rare congenital malformation, whereas retroperitoneal teratoma is a tumor in the retroperitoneal space, derived from the remaining embryonic tissue. There are relatively few clinical findings on adult retroperitoneal benign tumors. It is hard to believe that these two rare diseases can happen to the same person.A 19-year-old woman complaining of abdominal pain with nausea and vomiting was admitted. Abdominal computed tomography angiography was suggested for invasive teratoma. Intraoperative exploration revealed that the giant teratoma was connected to an isolated intestinal tract in the retroperitoneum. The postoperative pathological examination revealed that mature giant teratoma was present with intestinal duplication. This was a rare intraoperative finding that was successfully treated surgically.The clinical manifestations of intestinal duplication malformation are various, and difficult to diagnose before the operation. The possibility of intestinal replication should be considered when intraperitoneal cystic lesions are present.

Convolutional neural network-based segmentation network applied to image recognition of angiodysplasias lesion under capsule endoscopy

Small intestinal vascular malformations (angiodysplasias) are common causes of small intestinal bleeding. While capsule endoscopy has become the primary diagnostic method for angiodysplasia, manual reading of the entire gastrointestinal tract is time-consuming and requires a heavy workload, which affects the accuracy of diagnosis. To evaluate whether artificial intelligence can assist the diagnosis and increase the detection rate of angiodysplasias in the small intestine, achieve automatic disease detection, and shorten the capsule endoscopy (CE) reading time. A convolutional neural network semantic segmentation model with a feature fusion method, which automatically recognizes the category of vascular dysplasia under CE and draws the lesion contour, thus improving the efficiency and accuracy of identifying small intestinal vascular malformation lesions, was proposed. Resnet-50 was used as the skeleton network to design the fusion mechanism, fuse the shallow and depth features, and classify the images at the pixel level to achieve the segmentation and recognition of vascular dysplasia. The training set and test set were constructed and compared with PSPNet, Deeplab3+, and UperNet. The test set constructed in the study achieved satisfactory results, where pixel accuracy was 99%, mean intersection over union was 0.69, negative predictive value was 98.74%, and positive predictive value was 94.27%. The model parameter was 46.38 M, the float calculation was 467.2 G, and the time length to segment and recognize a picture was 0.6 s. Constructing a segmentation network based on deep learning to segment and recognize angiodysplasias lesions is an effective and feasible method for diagnosing angiodysplasias lesions.

Obscure Gastrointestinal Bleeding Caused by a Small Intestinal Lymphatic-venous Malformation: A Case Report with a Literature Review

A 44-year-old woman presented with severe anemia. We strongly suspected gastrointestinal bleeding; however, esophagogastroduodenoscopy, colonoscopy, and computed tomography showed no bleeding sources. Video capsule endoscopy revealed an actively bleeding submucosal lesion within the jejunum. Double-balloon enteroscopy revealed a 20-mm continuously bleeding submucosal lesion in the distal jejunum. We suspected small intestinal vascular malformation and performed surgical resection. The resected specimen pathologically comprised dilated, thin-walled lymphatic channels and blood vessels involving the small intestinal submucosa. Therefore, the patient was diagnosed with small intestinal lymphatic-venous malformation. Postoperatively, the patient recovered well, and recurrence was not observed.

Application of capsule endoscopy in patients with chronic and recurrent abdominal pain: Abbreviated running title: capsule endoscopy in abdominal pain.

The incidence of chronic and recurrent abdominal pain increases every year, while the diagnosis is still unsatisfactory even after a number of check-ups. This study aimed to evaluate the diagnosis value of capsule endoscopy in patients suffering from chronic and recurrent abdominal pain. A retrospective case study was performed in 80 chronic and recurrent abdominal pain patients at Xiangyang Central Hospital from January 2013 to November 2017. Meanwhile, diagnoses by capsule endoscopy were collected for analysis. Abnormal findings were found in 54 of 80 (67.5%) patients. The findings in chronic and recurrent abdominal pain patients include small intestinal erosion and congestion, small intestinal ulcers, small intestinal parasites, small intestinal vascular malformations, small intestinal polyps, small intestinal diverticulum, and small intestinal lymphangiectasia. There were no immediate significant side effects without being reported up to 1 month after ingestion of the capsule. The capsule was evacuated by all patients. Capsule endoscopy has a great value in the diagnosis of chronic and recurrent abdominal pain with satisfactory safety and less pain for patients. Inflammatory lesions and ulcers in the small intestine account for the majority of positive findings in these patients.

Introduction of a pharmacological neurovascular uncoupling model in rats based on results of mice.

Our aim was to establish a pharmacologically induced neurovascular uncoupling (NVU) method in rats as a model of human cognitive decline. Pharmacologically induced NVU with subsequent neurological and cognitive defects was described in mice, but not in rats so far. We used 32 male Hannover Wistar rats. NVU was induced by intraperitoneal administration of a pharmacological "cocktail" consisting of N-(methylsulfonyl)-2-(2-propynyloxy)-benzenehexanamide (MSPPOH, a specific inhibitor of epoxyeicosatrienoic acid-producing epoxidases, 5 mg kg-1), L-NG-nitroarginine methyl ester (L-NAME, a nitric oxide synthase inhibitor, 10 mg kg-1) and indomethacin (anonselective inhibitor of cyclooxygenases, 1 mg kg-1) and injected twice daily for 8 consecutive days. Cognitive performance was tested in the Morris water-maze and fear-conditioning assays. We also monitored blood pressure. In a terminal operation a laser Doppler probe was used to detect changes in blood-flow (CBF) in the barrel cortex while the contralateral whisker pad was stimulated. Brain and small intestine tissue samples were collected post mortem and examined for prostaglandin E2 (PGE2) level. Animals treated with the "cocktail" showed no impairment in their performance in any of the cognitive tasks. They had higher blood pressure and showed cca. 50% decrease in CBF. Intestinal bleeding and ulcerswere found in some animals with significantly decreased levels of PGE2 in the brain and small intestine. Although we could evoke NVU by the applied mixture of pharmacons, it also induced adverse side effects such as hypertension and intestinal malformations while the treatment did not cause cognitive impairment. Thus, further refinements are still required for the development of an applicable model.

Application Protocol of Standardized Neonatal Parenteral Nutrition Formulations

With the improvements in medical technology, more premature infants and infants with congenital intestinal malformations or other conditions who need parenteral nutrition (PN) support can survive. PN technology has become an important therapeutic strategy in neonatal intensive care units. Due to differences in the qualifications of medical staffs, hospital pharmacy management, hospital level, etc, the composition and preparation methods of PN prescription vary greatly in different regions and hospitals in China. In addition, delays in the starting time of PN, unreasonable formula of nutrition components, poor prescription review, large workload involved in the preparation of PN for nurses, and waste of drugs are prone to happen. In view of these issues, our hospital independently developed standardized formulas of neonatal PN solution, which has been approved in Australia as a patented invention. Herein, we reported the composition and application protocol of this standardized PN solution for newborns.

Hemorrhagic shock due to colonic arteriovenous malformation in late pregnancy: a case report

BackgroundIntestinal arteriovenous malformations are difficult to detect because they often present asymptomatically. However, pregnancy increases the hemorrhagic risk of intestinal arteriovenous malformations. This can lead to massive bleeding and hemodynamic instability, threatening the lives of both the mother and fetus. We describe a life-threatening case of hemorrhagic shock due to a colonic intestinal arteriovenous malformation during late pregnancy that was successfully treated through endovascular management.Case presentationA 36-year-old gravida 1, para 1 woman at 35 weeks’ gestation presented with hemodynamic instability and painless hematochezia. The patient had hemorrhagic shock and required massive transfusion. A colonoscopy failed to secure a visual field due to bloody fluid, and endoscopic hemostasis was difficult. Before the bleeding could be controlled, the condition of the fetus continued to deteriorate, showing bradycardia dysrhythmia. Therefore, an emergency cesarean section was performed, which was successful. However, the bleeding did not subside, with the patient’s hemodynamic instability and hematochezia persisting. An angiogram revealed an ascending colonic intestinal arteriovenous malformation, with extravasation of the contrast medium from a branch of the ileocolic artery. Localized blood flow control and hemodynamic stability were achieved via angioembolization. The patient had an uneventful postoperative recovery and was discharged on postoperative day 12. The newborn was admitted to the neonatal intensive care unit. She successfully recovered and was discharged when she was 22 days old.ConclusionsWe reported a case of colonic intestinal arteriovenous malformation resulting in hemodynamic instability due to hematochezia during late pregnancy, which was successfully treated via angioembolization. Intestinal arteriovenous malformation should be considered as a differential diagnosis in pregnant patients with hemodynamic instability and hematochezia.

Blue Rubber Bleb Nevus Syndrome: A Rare Case of Gastrointestinal Hemorrhage Necessitating Bowel Resection.

Blue Rubber Bleb Nevus Syndrome is a congenital rarity that manifests as vascular malformations throughout the body, including the gastrointestinal tract. With fewer than 300 cases reported, the etiology and clinical course is poorly understood; however, the literature suggests TEK mutations on chromosome 9 result in unregulated angiogenesis. We present the case of a young female treated for anemia of unknown etiology who presented in hemorrhagic shock due to gastrointestinal hemorrhage necessitating small bowel resection, with cutaneous, intestinal, hepatic, and lingual vascular malformations associated with a single somatic pathologic TEK mutation. Although uncommon, this case suggests that Blue Rubber Bleb Nevus Syndrome should be considered in the differential of a patient with persistent anemia and cutaneous lesions, carrying the potential for multiple gastrointestinal vascular malformations progressing to hemorrhage necessitating operative management. Additionally, a severe phenotype can occur without a double-hit TEK mutation.

Santulli Procedure Revisited in Congenital Intestinal Malformations and Postnatal Intestinal Injuries: Preliminary Report of Experience

In our experience, the Santulli procedure (SP) can improve bowel recovery in congenital intestinal malformations, necrotizing enterocolitis (NEC), and bowel perforation. All cases managed at our institution using SP between 2012 and 2017 were included in this study. Forty-one patients underwent SP (median age: 39 (0–335) days, median weight: 2987 (1400–8100) g) for intestinal atresia (51%, two gastroschisis), NEC (29%), midgut volvulus (10%), Hirschsprung’s disease (5%), or bowel perforation (5%), with at least one intestinal suture below the Santulli in 10% of cases. The SP was performed as a primary procedure (57%) or as a double-ileostomy reversal. Anal-stool passing occurred within a median of 9 (2–36) days for 95% of patients, regardless of the diversion level or the underlying disease. All three patients requiring repeated surgery for Santulli dysfunction had presented with stoma prolapse (p < 0.01). Stoma closure was performed after a median of 45 (14–270) days allowing efficient transit after a median of 2 (1–6) days. After a median follow-up of 2.9 (0.7–7.2) years, two patients died (cardiopathy and brain hemorrhage), full oral intake had been achieved in 90% of patients, and all survivors had normal bowel movement. Whether used as primary or secondary surgery, the SP allows rapid recovery of intestinal motility and function.

Umbilical Cord Teratoma Presenting as Ruptured Omphalocele

Congenital mature teratomas of the umbilical cord are extremely rare. We report on a girl who presented with a ruptured omphalocele and a 7 cm mass connected to the umbilicus, which we resected on the first day of life. Histology revealed mature umbilical cord teratoma . On the 29th day of life, a secondary laparotomy was necessary to address the associated intestinal malformations (megaduodenum, stenotic small bowel with duplication and malrotation). After a prolonged hospital stay, we discharged the patient in age-appropriate conditions. Antenatal diagnosis of an umbilical cord tumor can be challenging in the presence of an omphalocele. Given the high prevalence of associated malformations, the finding of umbilical cord teratoma should be followed by a detailed and comprehensive neonatal workup for additional abnormalities.

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia

The beta‐actin gene (ACTB) encodes a ubiquitous cytoskeletal protein, essential for embryonic development in humans. De novo heterozygous missense variants in the ACTB are implicated in causing Baraitser–Winter cerebrofrontofacial syndrome (BWCFFS; MIM#243310). ACTB pathogenic variants are rarely associated with intestinal malformations. We report on a rare case of monozygotic twins presenting with proximal small bowel atresia and hydrops in one, and apple‐peel bowel atresia and laryngeal dysgenesis in the other. The twin with hydrops could not be resuscitated. Intensive and surgical care was provided to the surviving twin. Rapid trio genome sequencing identified a de novo missense variant in ACTB (NM_00101.3:c.1043C>T; p.(Ser348Leu)) that guided the care plan. The identical variant subsequently was identified in the demised twin. To characterize the functional effect, the variant was recreated as a pseudoheterozygote in a haploid wild‐type S. cerevisiae strain. There was an obvious growth defect of the yACT1 S348L/WT pseudoheterozygote compared to a yACT1 WT/WT strain when grown at 22°C but not when grown at 30°C, consistent with the yACT1 S348L variant having a functional defect that is dominant over the wild‐type allele. The functional results provide supporting evidence that the Ser348Leu variant is likely to be a pathogenic variant, including being associated with intestinal malformations in BWCFFS, and can demonstrate variable expressivity within monozygotic twins.

The diagnosis and treatment of retrograde intussusception: a single-centre experience

Background/PurposeTo investigate the clinical manifestations, treatments of retrograde intussusception and summarize the experience.MethodsChildren with retrograde intussusception treated in our hospital from January 2011 to January 2021 were retrospectively analysed. Demographics, clinical manifestations, preoperative colour Doppler ultrasound (CDU) findings, findings during surgery and follow-up results were collected.ResultsA total of 4719 cases of intussusception were treated in our department, including 12 cases of retrograde intussusception (0.25%). There were 8 males and 4 females.The age ranged from 4.1 to 14.3 months, with an average of (8.3 ± 2.8) months.; The weight ranged from 5.5 to 12.6 kg, with an average of (9.4 ± 2.3) kg; The onset time ranged from 6 to 15 h, with an average of (10.0 ± 2.4) h. All the children received CDU examination before surgery, and in one case, the possibility of 2 intussusception masses was considered. Emergency surgical exploration was performed after the failure of air enema reduction. During the operation, multiple types of intussusception were found (coincidence of anterograde and retrograde intussusception). The pattern of anterograde intussusception was all ileo-ileo-colic variety and the retrograde intussusception was proximal sigmoid colon into descending colon. All the children were successfully reduced by manual reduction without intestinal necrosis or intestinal malformation. All children were discharged 6–7 days after surgery, and had no recurrence after 3–6 months of follow-up.ConclusionsRetrograde intussusception is easily misdiagnosed before surgery. During air enema, if the intussusception mass was fixed and did not move with increasing pressure, we should be aware of the possibility of retrograde intussusception, and the enema pressure should not be too large to avoid intestinal perforation. If the intraoperative position of the intussusception mass was not consistent with that of the preoperative enema, it was recommended to use bimanual examination to explore whether there was still a mass in the abdominal cavity to avoid misdiagnosis.

Systematic review of mesodiverticular band: a rare cause of small bowel strangulation and hemoperitoneum in adults

Introduction: Mesodiverticular band (MDB) is a rare congenital intestinal malformation. It originates from the embryonic remnant of the vitelline artery and is usually associated with Meckel’s diverticulum (MD). Persistent MDB may cause small bowel obstruction by trapping a loop of bowel, hemoperitoneum due to aneurysmal or traumatic rupture of MDB. The purpose of this article is to review the literature of MDB and identify the patterns of presentation, complications, and management options. Methods: We searched PubMed for articles containing terms: “Mesodiverticular band,” “Vitelline band,” and “Vitelline artery remnant.” Abstracts were reviewed in detail and we included all the case reports available in full-text and in English language. We excluded all case reports of patients younger than 18 years of age. Results: Only 20 case reports were included. Only adult patients were included. The male to female ratio was 3:1. The most common presentation was small bowel obstruction followed by hemoperitoneum. The majority required exploratory laparotomy with more than half requiring small bowel resection. One death report secondary to undiagnosed internal hernia. Conclusion: MDB with MD is a rare cause of intestinal obstruction or hemoperitoneum in adults. It remains a diagnostic dilemma as it is usually diagnosed intraoperatively.