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Background Anastomotic or perianastomotic ulcers present with symptoms such as chronic anaemia and occult bleeding as long-term complications of bowel resection performed in infancy. Case presentation Herein, we describe a 15-year-old girl with a history of surgery for meconium obstruction without mucoviscidosis in infancy who was hospitalized with chief complaints of presyncope and convulsions. Seven hours after admission, she developed melena and went into shock. An emergency laparotomy was performed, and a Dieulafoy lesion was detected near the site of ileal anastomosis from the surgery that had been performed during infancy. Conclusions Although overt massive lower gastrointestinal bleeding necessitating emergency care is rare in the long term after infant bowel resection, Dieulafoy lesions can cause serious bleeding, requiring rapid life-saving haemostatic procedures.

(1) Background: The use of N-acetylcysteine (NAC) to relieve meconium obstruction of prematurity in the first days of life has been reported, with NAC reducing the viscosity of luminal contents by cleaving the disulfide bonds of mucoproteins. However, its use in this population should be further explored since it has been associated with hypernatremia and transient increase in transaminases and bilirubin. (2) Methods: In this retrospective study, we included neonates admitted because of enteral feeding intolerance and intestinal obstruction from 2019 to 2021 who received NAC as a rescue therapy before explorative laparotomy. (3) Results: We summarized the clinical presentation of six preterm neonates with enteral feeding intolerance and intestinal obstruction who received NAC as a rescue therapy. Four infants (66.7%) gradually improved without the need for explorative laparotomy, whereas two infants (33.3%) underwent the creation of an ileostomy. No cases of hypernatremia or hepatic derangement associated with NAC therapy were observed. (4) Conclusions: We described the use of NAC treatment by nasogastric tube and/or rectal enemas in preterm infants with enteral feeding intolerance and intestinal obstruction after a multidisciplinary assessment, but the limited sample size did not allow us to obtain definitive conclusions and further research is needed in this field, given the limited evidence about NAC treatment in preterm infants.

Meconium obstruction (MO) in extremely low birth weight (ELBW) infants is a challenging disease to treat. We performed ultrasound-guided hydrostatic enema on six ELBW infants diagnosed with MO. We consider this procedure to be safe and effective, and recommend it as a treatment for MO in ELBW infants.

Background/purpose Meconium obstruction of prematurity (MO) often occurs in extremely low-birth weight (ELBW) infants, and its treatment is quite a challenge for neonatologists. We attempted to establish a method of primary treatment for MO of prematurity in ELBW infants. Methods An iopamidol enema with 50 cm H 2 O static pressure was performed as the primary treatment. This procedure is safe and effective and we recommend this as the first treatment for MO in ELBW infants. Results The procedure was performed 50 times in 23 infants and no complications occurred. Out of 23 patients, 20 (88%) improved, but the other 3 did not. In the failure group, the procedure was performed on a significantly later date and the mortality rate was higher (12.5 vs. 67%). Conclusions This procedure is safe and effective. We recommend this as the first treatment for MO in ELBW infants.

Meconium ileus at birth, distal intestinal obstruction syndrome (DIOS), and constipation are an interrelated group of intestinal obstruction syndromes with a variable severity of obstruction that occurs in cystic fibrosis patients. Long-term follow-up studies show that today meconium ileus is not a risk factor for impaired nutritional status, pulmonary function, or survival. DIOS and constipation are frequently seen in cystic fibrosis patients, especially later in life; genetic, dietary, and other associations have been explored. Diagnosis of DIOS is based on suggestive symptoms, with a right lower quadrant mass confirmed on abdominal radiography, whereas symptoms of constipation are milder and of longer standing. In DIOS, early aggressive laxative treatment with oral laxatives (polyethylene glycol) or intestinal lavage with balanced osmotic electrolyte solution and rehydration is required, which now makes the need for surgical interventions rare. Constipation can generally be well controlled with polyethylene glycol maintenance treatment.

PurposeTo characterise the investigations, management and ultimate diagnosis of neonates with distal intestinal obstruction.MethodsRetrospective review of term (> 37 weeks) neonates with admission diagnosis of distal intestinal obstruction over 10 years (2012–2022). Patient pathways were identified and associations between presentations, response to treatments and outcome investigated.ResultsA total of 124 neonates were identified and all included. Initial management was colonic irrigation in 108, contrast enema in 4, and laparotomy in 12. Of those responding to irrigations none underwent contrast enema. Ultimately, 22 neonates proceeded to laparotomy. Overall, 106 had a suction rectal biopsy and 41 had genetic testing for cystic fibrosis. Final diagnosis was Hirschsprung disease (HD) in 67, meconium ileus with cystic fibrosis (CF) in 9, meconium plug syndrome in 19 (including 3 with CF), intestinal atresia in 10 and no formal diagnosis in 17. Median length of neonatal unit stay was 11 days (7–19).ConclusionsInitial management of neonates with distal bowel obstruction should be colonic irrigation since this is therapeutic in the majority and significantly reduces the need for contrast enema. These infants should all have suction rectal biopsy to investigate for HD unless another diagnosis is evident. If a meconium plug is passed, testing for CF is recommended. Evaluation and therapy are multimodal and time consuming, placing burden on resources and families.

BackgroundThe role of imaging in meconium peritonitis is not limited to establishing a diagnosis; rather, it might also be helpful in determining which neonates require surgery. However, few data in the literature correlate the postnatal radiographic and sonographic findings with the need for surgery.ObjectiveTo compare the role of postnatal radiographic and sonographic findings in predicting the need for surgery in neonates with meconium peritonitis.Materials and methodsWe conducted a retrospective analysis of clinical, imaging and surgical findings in all neonates with meconium peritonitis in the period 1999–2014. We divided the children into operative or non-operative groups and then correlated each group with the presence or absence of the following findings on both the radiographs and sonograms: peritoneal calcification, meconium pseudocyst, intestinal obstruction, volvulus, ascites and pneumoperitoneum.ResultsThirty-seven neonates (22 males, 15 females) had meconium peritonitis in this period, of whom 23 (62%) required surgery and 14 (38%) were successfully treated non-surgically. None had an antenatal infection and three had cystic fibrosis (8%). Bowel obstruction identified on radiography (12/23, P=0.01) and sonography (9/23, P=0.04) and ascites identified with sonography (7/23, P=0.01) were associated with the need for surgical intervention. The presence of pneumoperitoneum and volvulus were also associated with surgical intervention. There was no significant statistical difference in the number of neonates with diffuse peritoneal calcification who were treated operatively or non-operatively. Four (33%) of the 12 neonates with meconium pseudocysts were successfully treated non-operatively.ConclusionImaging findings that predicted the need for surgery were intestinal obstruction, ascites, volvulus and pneumoperitoneum. Neonates with meconium pseudocysts did not require surgery if they were not associated with the described findings. The findings in our patients also indicate that those with diffuse peritoneal calcification as an isolated finding can be successfully treated non-operatively.

Almost two decades after CFTR was identified as the gene responsible for cystic fibrosis (CF), we still lack answers to many questions about the pathogenesis of the disease, and it remains incurable. Mice with a disrupted CFTR gene have greatly facilitated CF studies, but the mutant mice do not develop the characteristic manifestations of human CF, including abnormalities of the pancreas, lung, intestine, liver, and other organs. Because pigs share many anatomical and physiological features with humans, we generated pigs with a targeted disruption of both CFTR alleles. Newborn pigs lacking CFTR exhibited defective chloride transport and developed meconium ileus, exocrine pancreatic destruction, and focal biliary cirrhosis, replicating abnormalities seen in newborn humans with CF. The pig model may provide opportunities to address persistent questions about CF pathogenesis and accelerate discovery of strategies for prevention and treatment.

Cystic Fibrosis (CF) exhibits morbidity in several organs, including progressive lung disease in all patients and intestinal obstruction at birth (meconium ileus) in ~15%. Individuals with the same causal CFTR mutations show variable disease presentation which is partly attributed to modifier genes. With >6,500 participants from the International CF Gene Modifier Consortium, genome-wide association investigation identified a new modifier locus for meconium ileus encompassing ATP12A on chromosome 13 (min p = 3.83x10(-10)); replicated loci encompassing SLC6A14 on chromosome X and SLC26A9 on chromosome 1, (min p<2.2x10(-16), 2.81x10(-11), respectively); and replicated a suggestive locus on chromosome 7 near PRSS1 (min p = 2.55x10(-7)). PRSS1 is exclusively expressed in the exocrine pancreas and was previously associated with non-CF pancreatitis with functional characterization demonstrating impact on PRSS1 gene expression. We thus asked whether the other meconium ileus modifier loci impact gene expression and in which organ. We developed and applied a colocalization framework called the Simple Sum (SS) that integrates regulatory and genetic association information, and also contrasts colocalization evidence across tissues or genes. The associated modifier loci colocalized with expression quantitative trait loci (eQTLs) for ATP12A (p = 3.35x10(-8)), SLC6A14 (p = 1.12x10(-10)) and SLC26A9 (p = 4.48x10(-5)) in the pancreas, even though meconium ileus manifests in the intestine. The meconium ileus susceptibility locus on chromosome X appeared shifted in location from a previously identified locus for CF lung disease severity. Using the SS we integrated the lung disease association locus with eQTLs from nasal epithelia of 63 CF participants and demonstrated evidence of colocalization with airway-specific regulation of SLC6A14 (p = 2.3x10(-4)). Cystic Fibrosis is realizing the promise of personalized medicine, and identification of the contributing organ and understanding of tissue specificity for a gene modifier is essential for the next phase of personalizing therapeutic strategies.

Correspondence to Dr Jeng-Chang Chen, Department of Surgery, Chang Gung Children's Hospital, College of Medicine, Chang Gung University, Taoyuan 333, Taiwan; bx9619@cgmh.org.tw A 3-year-old boy without relevant family diseases and delayed meconium passage after birth has had chronic constipation since infancy, interspersed sometimes with normal passage of soft sausage-like stools. H&E staining of tissue sections showed aganglionosis (arrow, B) and hypertrophic nerve bundles (arrow, C) in the intermuscular space of the transition zone, caecum and other sites of the colon. TCA is defined as aganglionosis involving the whole colon and extending ≤50 cm to the ileum.1 Despite extensive aganglionosis, TCA may not necessarily show acute obstruction in neonates, but probably a later-than-expected presentation to hospitals.1–3 Thus, early-onset chronic constipation interspersed with intestinal obstruction refractory to medical or even surgical interventions merits TCA investigations.2 3 On TCA enema studies, delineation of a transition zone is technically challenging, with an accuracy of about 25%,1 4 and over 50% of cases display a normal-calibre colon with featureless contour,5 making it hard for clinicians to identify TCA.