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In about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis transmembrane conductance regulator gene (CFTR), which is found on chromosome 7q31, is mutated in CF patients. A premature baby, 5 days old, with clinical signs that were typical of MI. These attempts failed in spite of conservative therapies, such as rectal injection of gastrografin. An ileostomy was made and meconium was manually evacuated after an exploratory laparotomy revealed the presence of a typical MI. At ≥1300 µg/L (reference value ≤1000 µg/L), immunoreactive trypsinogen (IRT) levels were increased, which prompted the start of oral pancreatic enzyme replacement treatment. Discharge at 65 days of age included referrals to primary care and a specialized CF clinic. The baby has since shown normal growth and development. This case highlights the rapid onset of CF in a premature infant with complex MI as the initial clinical presentation.

Purpose: To characterise the investigations, management and ultimate diagnosis of neonates with distal intestinal obstruction. Methods: Retrospective 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. Results: A 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). Conclusions: Initial 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. [ABSTRACT FROM AUTHOR]

The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop–Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies. [ABSTRACT FROM AUTHOR]

Background. Meconium ileus is one of the manifestations of cystic fibrosis. It is characterized by intestinal obstruction with viscous meconium leading to perforation and peritonitis. The issues of early diagnosis of cystic fibrosis, management of newborns with meconium ileus and negative neonatal screening for immunoreactive trypsinogen (IRT), as well as IRT decrease causes and mechanisms in patients with meconium ileus require further study. Clinical case description. Routine ultrasound examination at the 33rd week of gestation has shown signs of colon obstruction and meconium peritonitis in the intrauterine child. Surgical treatment of peritonitis was performed urgently on the 1st day after birth. The child was on mechanical ventilation from the 1st day of life. The child has shown signs of intrahepatic cholestasis with direct hyperbilirubinemia (up to 100 μmol/L) and signs of hemorrhagic syndrome (bleeding from injection sites) on the 8th day of life. Negative IRT blood test was received (21.6 ng/mL, normal value < 70 ng/mL) on the 10th day. The fecal elastase concentration was 45 μg/g (normal value > 200 μg/g) (on the same day). Sweat tests were performed on the 21st and 23rd days of life. They have shown high levels of sweat chlorides (112 mmol/L in both samples, normal value — 30–59 mmol/L). The diagnosis of «cystic fibrosis» was established, thus, dornase alfa (dosage — 2.5 mg/day) was added to the therapy. Conclusion. Meconium ileus is one of the specific intestinal manifestations of cystic fibrosis and it commonly can be complicated with intestinal perforation in the intrauterine child with further peritonitis. Children with meconium ileus require sweat tests regardless the neonatal screening results.

According to various scientists, 10-20 percent of newborns with cystic fibrosis have meconium ileus (MI). MI is an obstruction of the small intestine that occurs in fetuses during the 20th-24th week of gestation due to a violation of the processes of the formation of meconium. The latter has an increased viscosity and cannot pass through the intestines causing their obturation. About 50 percent of the cases of MI are complicated by intestinal volvulus, intestinal atresia, malrotation, perforation with the development of meconium peritonitis and ascites, the formation of a meconium pseudocyst etc. The goal of the research is to conduct a systematic overview of the literature on the issue of MI in neonatal patients and to offer optimal tactics of medical support of newborns with MI on the basis of the analysis of relevant literary sources and our own observations related to this topic. The Results. The overview of the literature in the historical aspect covering the last 20 years has demonstrated the following: due to the development and improvement of the methods of conservative surgical treatment of newborns with MI the mortality of the newborns with MI has decreased. The analysis of the data based on the global experience as well as on our own observations indicates the possibility of conservative therapy and surgical treatment of infants with MI and testifies to the fact that in 50 percent of cases of uncomplicated MI the conservative treatment can be an effective option. The research contains the description of the step-by-step measures of conservative treatment. The indications for surgical interventions have also been specified in the research. Conclusion. In treatment of newborns with MI resections and stomata should be avoided. Instead, preference should be given to gastric lavage. [ABSTRACT FROM AUTHOR]

IntroductionMeconium ileus (MI) is a life-threatening obstruction of the intestines affecting ∼15% of newborns with cystic fibrosis (CF). Current medical treatments for MI often fail, requiring surgical intervention. MI typically occurs in newborns with pancreatic insufficiency from CF. Meconium contains mucin glycoprotein, a potential substrate for pancreatic enzymes or mucolytics. Our study aim was to determine whether pancreatic enzymes in combination with mucolytic treatments dissolve obstructive meconium using the CF pig model.MethodsWe collected meconium from CF pigs at birth and submerged it in solutions with and without pancreatic enzymes, including normal saline, 7% hypertonic saline, and the reducing agents N-acetylcysteine (NAC) and dithiothreitol (DTT). We digested meconium at 37 °C with agitation, and measured meconium pigment release by spectrophotometry and residual meconium solids by filtration.Results and discussionIn CF pigs, meconium appeared as a solid pigmented mass obstructing the ileum. Meconium microscopically contained mucus glycoprotein, cellular debris, and bile pigments. Meconium fragments released pigments with maximal absorption at 405 nm after submersion in saline over approximately 8 h. Pancreatic enzymes significantly increased pigment release and decreased residual meconium solids. DTT did not improve meconium digestion and the acidic reducing agent NAC worsened digestion. Pancreatic enzymes digested CF meconium best at neutral pH in isotonic saline. We conclude that pancreatic enzymes digest obstructive meconium from CF pigs, while hydrating or reducing agents alone were less effective. This work suggests a potential role for pancreatic enzymes in relieving obstruction due to MI in newborns with CF.

The early management of neonates with meconium ileus (MI) and cystic fibrosis (CF) is highly variable across countries and is not standardized. We conducted a systematic review according to the Preferred Reporting Items for Systematic Reviews and Meta-analyses statement. The protocol was registered in PROSPERO (CRD42024522838). Studies from three providers of academic search engines were checked for inclusion criteria, using the following search terms: meconium ileus AND cystic fibrosis OR mucoviscidosis. Regarding the patient population studied, the inclusion criteria were defined using our predefined PICOT framework: studies on neonates with simple or complicated meconium which were confirmed to have cystic fibrosis and were conservatively managed or surgically treated. Results: A total of 566 publications from the last 10 years were verified by the authors of this review to find the most recent and relevant data, and only 8 met the inclusion criteria. Prenatally diagnosed meconium pseudocysts, bowel dilation, and ascites on ultrasound are predictors of neonatal surgery and risk factor for negative 12-month clinical outcomes in MI-CF newborns. For simple MI, conservative treatment with hypertonic solutions enemas can be effective in more than 25% of cases. If repeated enemas fail to disimpact the bowels, the Bishop–Koop stoma is a safe option. No comprehensive research has been conducted so far to determine the ideal surgical protocol for complicated MI. We only found three studies that reported the types of stomas performed and another study comparing the outcomes of patients depending on the surgical management; the conclusions are contradictory especially since the number of cases analyzed in each study was small. Between 18% and 38% of patients with complicated MI will require reoperation for various complications and the mortality rate varies between 0% and 8%. Conclusion: This study reveals a lack of strong data to support management decisions, unequivocally shows that the care of infants with MI is not standardized, and suggests a great need for international collaborative studies.

Complex gastroschisis defines cases with abdominal wall defect associated with intestinal atresia, stenosis, volvulus, necrosis, or perforation. In this work we present the clinical case of female, 37 weeks gestation. Heredofamilial history, no relevant data. Prenatal history: G1, A0, diagnosed with gastroschisis in the first trimester. Postnatal history: born via abdominal delivery, ++ meconium-stained amniotic fluid, flaccid, no respiratory effort, Silverman-Andersen 4, APGAR 6/8, weight 2,720 grams, length 48 cm, head circumference 32 cm, chest circumference 26 cm, abdominal circumference 26 cm, foot length 7 cm. Current condition: developed meconium aspiration syndrome and complex gastroschisis at birth. Diffuse infiltrates on chest X-ray. Surgical findings: colonic atresia with transmural necrosis of cecal wall, including the vermiforme cecal appendix and ileocecal valve. Thick, adherent meconium pellets in the terminal ileum. Ileostomy was performed to facilitate meconium management through enemas. At 14 days, abdominal plasty and ileocolic anastomosis were performed without complications. Oral administration of acetylcysteine resumed after 5 days and was discontinued at one month of age without complications. Complementary studies and follow-up: weat electrolytes ruled out cystic fibrosis, and neonatal screening was normal. Current follow-up at 1 year and 6 months shows. Weight within normal limits. Low height, under surveillance. Developmental delay, so she is included in an early stimulation program. Complex gastroschisis requires multiple surgeries and is associated with higher morbidity and mortality than simple gastroschisis. Timely management can change the morbidity outcome. [ABSTRACT FROM AUTHOR]

• Meconium ileus may be the first clinical presentation in patients with D1152H. • Sweat testing alone in patients with D1152H is insufficient to suggest against CF. • Patients with D1152H may remain pancreatic sufficient impacting quality of life. • CFTR gene sequencing is important in patients with meconium ileus for this reason. Meconium ileus (MI) is one presenting manifestation of Cystic Fibrosis (CF), classically associated with class I-III CF transmembrane conductance regulator (CFTR) mutations and pancreatic insufficiency (PI). D1152H is a class IV mutation that corresponds with a milder CF phenotype and pancreatic sufficiency (PS). We present the case of an infant with G542X/D1152H mutations and MI who required surgical intervention with small bowel resection. The sweat testing was normal, and this child presently remains PS, however at age 5 continues to experience short gut syndrome and failure to thrive. Eight cases were identified in the CF Registry and seven cases in the literature describing patients with D1152H and echogenic bowel (EB) or MI. Our case highlights the importance of CFTR gene sequencing in infants with EB or MI and sweat testing not suggestive of CF. It is our practice to perform full CFTR gene sequencing for infants who present with MI, recognizing protocols for newborn screening across the United States vary. Increased awareness of D1152H association with PS may also well inform both prenatal and postnatal genetic counseling. [ABSTRACT FROM AUTHOR]

Abstract Background Aim: This study was conducted to determine the efficacy of medical agents currently used or potentially used in the medical treatment of meconium ileus and to contribute to the medical treatment of meconium ileus. Materials and method In our study, meconium causing meconium ileus or normal meconium obtained voluntarily from healthy newborns at birth was used. A total of 2 g meconium sample was placed in each test tube. Six experimental groups were formed by adding saline solution, N-acetylcysteine, amidotrizoate, pancreatic enzymes, fibrinolytic enzyme, and probiotic bacteria on the meconium samples. All experimental groups were kept at 36 °C and over 90% humidity for 6 h. The resulting mixtures were centrifuged at 2500 rpm for 5 min. The solid gel-like part and the liquid part were separated. The volumes of the liquid portions and the weights of the gel portions were measured. Gels were placed on a glass substrate to compare the flowability of the gel portions. After 30 min, how much the gel-like meconiums moved from the starting point was recorded. Liquid volumes were measured in milliliters (ml), weights in grams (g), and distance in millimeters (mm). Results It was determined that the solid part weights of N-acetylcysteine and amidotrizoate groups increased, while the solid part weights of the other groups decreased. It was determined that the decrease in solid part weights was mostly in the probiotic bacteria group. Test correlation between liquid fraction volume and solid weight was statistically determined. The group that moved the most on the glass substrate was the N-acetylcysteine group. Conclusions Our study also showed that the gastrographin and NAC groups do indeed attract liquid to solid meconium. They cause an increase in solid part weight. Probiotic bacteria and pancreatic enzymes were found effective in terms of movement on the glass surface in the meconium samples they were applied to. The fibrinolytic enzyme produced for in vivo environment was found to be ineffective in the in vitro environment in our study. We think that pancreatic enzymes and probiotic bacteria can also be used in the medical treatment of meconium ileus.

Goldberg–Shprintzen Syndrome (GOSHS, OMIM# 182212) is a rare autosomal dominant disorder with the characteristic features of craniosynostosis, developmental delays, intellectual disability, hypotonia, joint laxity, respiratory dysfunction, cardiovascular abnormalities, and abdominal hernias. Here we presented a rare case of 5‐years old male child with facial dysmorphism, global developmental delay, microcephaly, hypotonia, respiratory infection, breathing abnormalities, hematochezia, and meconium ileus. Whole exome sequencing revealed a novel homozygous deletion mutation in kinesin family binding protein (KIFBP) gene, NM_015634.4:c.1151del (p.Leu384Ter), which confirmed the molecular diagnosis of GOSHS. [ABSTRACT FROM AUTHOR]

ABSTRACT BACKGROUND: Bishop-Koop ileostomy has been widely used in pediatric patients with the intention of including as much bowel as possible in the intestinal transit early in the management of children with meconium ileus and intestinal atresia. In recent years, we have been using it as an alternative to test the distal bowel function before closure of a previously constructed ostomy in selected children with questionable distal bowel motility. AIMS: The aim of this study was to present our experience with this alternative use of the Bishop-Koop ostomy. METHODS: This is a cross-sectional retrospective review of hospital records, combined with a comprehensive literature review. RESULTS: Seven children were included: five had suspected aganglionosis, one had gastroschisis complicated with ileal atresia, and one had a colonic stricture secondary to necrotizing enterocolitis. In this short series of patients, motility of the distal bowel was correctly assessed in six patients and partially correctly assessed in one patient. One patient did not pass stools per anus after the Bishop-Koop, and he was later confirmed to have Hirschsprung disease. Four patients resumed normal evacuation pattern after closure of the Bishop-Koop. One patient had a Bishop-Koop colostomy because of recurrent enterocolitis after a transanal pull-through. Although he evacuated normally while having the colostomy, the diarrhea recurred after the ostomy was closed. An additional patient, with a severe behavioral problem, did not evacuate per anus after her colostomy was transformed in a Bishop-Koop-type ostomy, despite the apparent presence of normal ganglia in the bowel wall. CONCLUSIONS: Data from the present series allow us to affirm that Bishop-Koop-type ostomy is a safe and efficient procedure that can be used to assess distal bowel function before a definitive transit reconstruction, in children with uncertain motility issues.

Introduction: Cystic fibrosis (CF) is a potentially severe disease. The development of new therapies with cystic fibrosis transmembrane conductance regulator (CFTR) modulators has been a great advance in the management of this condition because they improve the function of the faulty CFTR protein rather than palliate its consequences. CFTR modulator therapy improves pancreatic and lung function and, therefore, quality of life, with greater benefits the sooner treatment is started. For this reason, the use of these therapies is being approved for increasingly younger patients. Only two cases of pregnant women taking CFTR modulator therapy with CF fetuses have been reported, suggesting that it could resolve meconium ileus (MI) prenatally and delay/prevent other consequences of CF. Case Presentation: We report a case of a healthy pregnant patient who underwent CFTR modulator therapy with elexacaftor-tezacaftor-ivacaftor (ETI) in order to treat her fetus with CF (F508del homozygous CFTR mutation) and MI. Ultrasound findings suggestive of MI were observed at 24 weeks. Both parents were tested for CFTR mutations, and both were carriers of the F508del CFTR mutation. The fetus was diagnosed with CF by amniocentesis at 26+2 weeks. Maternal ETI therapy was initiated at 31+1 weeks, and no dilated bowel was observed at 39 weeks. There were no signs of bowel obstruction after birth. Maternal ETI treatment was continued during breastfeeding, with normal liver function. Immunoreactive trypsinogen in the newborn was 58.1 ng/mL, sweat chloride test was 80 mmol/L, and fecal elastase on the second day of life was 58 μg/g. Conclusion: Prenatal ETI treatment, as well as during breastfeeding, could solve, prevent, and/or delay CF complications. [ABSTRACT FROM AUTHOR]

Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.39 Mb. We use these samples to construct a graph representation of CFTR haplotypes, demonstrating its utility for understanding complex CF alleles. These are visualized in a Web app, CFTbaRcodes, that enables interactive exploration of CFTR haplotypes present in this cohort. We perform fine-mapping and phasing of the chr7q35 trypsinogen locus associated with CF meconium ileus, an intestinal obstruction at birth associated with more severe CF outcomes and pancreatic disease. A 20-kb deletion polymorphism and a PRSS2 missense variant p.Thr8Ile (rs62473563) are shown to independently contribute to meconium ileus risk (p = 0.0028, p = 0.011, respectively) and are PRSS2 pancreas eQTLs (p = 9.5 × 10−7 and p = 1.4 × 10−4, respectively), suggesting the mechanism by which these polymorphisms contribute to CF. The phase information from linked reads provides a putative causal explanation for variation at a CF-relevant locus, which also has implications for the genetic basis of non-CF pancreatitis, to which this locus has been reported to contribute.

Objective: This study is a preliminary report in the efficacy of lateral T-stoma (LTS), which we developed as a solution for anastomosis dysfunction and/or short bowel syndrome in the jejunoileal atresia (JIA). Method: The primary pathologies and results of all cases who underwent lateral t-stoma between July 2017-2020 were evaluated retrospectively. Results: Case 1 with meconium pseudocysts secondary to intrauterine volvulus had Type-3A JIA at 50 cm from the Treitz, and end-oblique anastomosis was performed. The LTS was created proximal to the first anastomosis. on Day 15 due to abdominal distension with 5/1 diameter ratio. The patient was discharged 13 days later. The LTS was closed in the 10th month. In Case 2 with Type-2 JIA at 60 cm from the Treitz, primary LTS was created proximal to the anastomosis with 5/1 diameter ratio. Patient was discharged 15 days later. The LTS was closed in the 10th month. End-to-side anastomosis was performed in Case 3 with Type-2 JIA located 70 cm from Treitz. Anastomotic leakage occurred on Day 36, and the LTS was created with 6/1 diameter ratio. The LTS was closed in the 5th month. Prenatally diagnosed Case 4 was postnatally intubated due to pulmonary hypertension, and surfactant was applied. Intrauterine volvulus, meconium pseudocyst and intestinal perforation were detected at 50 cm from the Treitz, and jejunoileal anastomosis together with primary LTS was performed with 5/1 diameter ratio. Nasogastric feeding started on the 10th day, but patient was lost on Day 44 without extubation. Primary repair and end-stoma were performed in Case 5 with gastroschisis/intestinal atresia with perforation. Due to high-flow stomal discharge/weight loss, the ileo-colic anastomosis and LTS were performed proximal to anastomosis with 3/1 diameter ratio at 60 cm from Treitz on Day 68. Patient was discharged on Day 90. In Case 6 with prenatal diagnosis as meconium cyst with Type-2 JIA (at 65 cm from Treitz), primary LTS was created proximal to the anastomosis with 4/1 diameter ratio. The LTS was closed in the 14th month due to high-flow stomal discharge. Conclusion: Creation of lateral T-stoma proximal to the anastomosis in JIAs with large differences in diameters may shorten hospitalization time and relieve functional obstruction/short bowel syndrome.

Individuals with cystic fibrosis (CF) develop complications of the gastrointestinal tract influenced by genetic variants outside of CFTR. Cystic fibrosis-related diabetes (CFRD) is a distinct form of diabetes with a variable age of onset that occurs frequently in individuals with CF, while meconium ileus (MI) is a severe neonatal intestinal obstruction affecting ∼20% of newborns with CF. CFRD and MI are slightly correlated traits with previous evidence of overlap in their genetic architectures. To better understand the genetic commonality between CFRD and MI, we used whole-genome-sequencing data from the CF Genome Project to perform genome-wide association. These analyses revealed variants at 11 loci (6 not previously identified) that associated with MI and at 12 loci (5 not previously identified) that associated with CFRD. Of these, variants at SLC26A9, CEBPB , and PRSS1 associated with both traits; variants at SLC26A9 and CEBPB increased risk for both traits, while variants at PRSS1 , the higher-risk alleles for CFRD, conferred lower risk for MI. Furthermore, common and rare variants within the SLC26A9 locus associated with MI only or CFRD only. As expected, different loci modify risk of CFRD and MI; however, a subset exhibit pleiotropic effects indicating etiologic and mechanistic overlap between these two otherwise distinct complications of CF. Genetic modifiers play a significant role in two independent complications of cystic fibrosis (CF): neonatal intestinal obstruction and diabetes. Whole-genome sequencing followed by common and rare variant association identified pleiotropic loci displaying concordant and/or discordant modification of each trait, revealing unexpected mechanistic overlap between distinct complications of CF. [ABSTRACT FROM AUTHOR]

In about 10%-15% of instances, meconium ileus (MI) is the first sign of cystic fibrosis (CF). If a newborn exhibits signs of intestinal obstruction and does not pass meconium within a short period of time after birth, MI is suspected. The cystic fibrosis transmembrane conductance regulator gene (CFTR), which is found on chromosome 7q31, is mutated in CF patients. A premature baby, 5 days old, with clinical signs that were typical of MI. These attempts failed in spite of conservative therapies, such as rectal injection of gastrografin. An ileostomy was made and meconium was manually evacuated after an exploratory laparotomy revealed the presence of a typical MI. At ≥1300 µg/L (reference value ≤1000 µg/L), immunoreactive trypsinogen (IRT) levels were increased, which prompted the start of oral pancreatic enzyme replacement treatment. Discharge at 65 days of age included referrals to primary care and a specialized CF clinic. The baby has since shown normal growth and development. This case highlights the rapid onset of CF in a premature infant with complex MI as the initial clinical presentation., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Highly effective modulator therapy (HEMT), particularly the triple combination elexacaftor-tezacaftor-ivacaftor (ETI), significantly improved clinical outcomes and quality of life in people with Cystic Fibrosis (pwCF). This review analyzes current knowledge on the impact of HEMTs on gastrointestinal (GI) symptoms and features in pwCF. A descriptive review of English literature until February 29, 2024, was conducted using medical databases. Observational studies and clinical trials addressing GI reflux disease (GERD), lower GI symptoms and pancreatic disease were considered. Studies report positive effects of HEMTs on pH levels and bicarbonate secretion as well as improvement on intestinal inflammation. HEMTs also demonstrated positive effects on GERD and lower GI symptoms or conditions CF related such as dysbiosis. Taking ETI during pregnancy could also allow resolution of meconium ileus in fetuses with CF. The best benefits were observed in pancreatic function, potentially delaying CF-related diabetes and recovering pancreatic function in some children on ETI. Larger trials, particularly in pediatric populations, need to confirm these findings and explore long-term effects., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Introduction: Ileal obstruction caused by thick meconium associated with functional immaturity (IOMFI) is an uncommon disease associated with prematurity. IOMFI is not well known, and late or wrong diagnosis is a problem. In this research, we review the clinical characteristics and therapeutic methods of IOMFI., Methods: Critical descriptive literature review., Results: Most patients eliminate meconium previously to IOMFI. More premature babies tend to become symptomatic in their second week of life, with progressive abdominal distension. The most frequent complication is perforation. Radiologically there is diffuse intestinal distention without air-fluid levels. In contrast enema a caliber transition zone is observed in the distal ileum with multiple filling defects in the ileum and colon. Neural ganglia are present in biopsies from the rectum, colon, and stoma, mostly with characteristics of immature ganglia. Most patients respond to treatment with water soluble contrast enemas. Surgery is needed for patients who do not respond to enemas and those presenting perforations., Discussion: IOMFI literature is limited to retrospective mainly small and heterogeneous cohorts. Patients usually respond promptly to water soluble enemas, but a favorable response is highly dependent in contrast reflux through the ileocecal valve and success is related to early treatment. Contrast inflow may be controlled by intermittent radiographies or real time ultrasound., (Copyright © 2024 Elsevier Inc. All rights reserved.)

Background: Aim: This study was conducted to determine the efficacy of medical agents currently used or potentially used in the medical treatment of meconium ileus and to contribute to the medical treatment of meconium ileus. Materials and method: In our study, meconium causing meconium ileus or normal meconium obtained voluntarily from healthy newborns at birth was used. A total of 2 g meconium sample was placed in each test tube. Six experimental groups were formed by adding saline solution, N-acetylcysteine, amidotrizoate, pancreatic enzymes, fibrinolytic enzyme, and probiotic bacteria on the meconium samples. All experimental groups were kept at 36 °C and over 90% humidity for 6 h. The resulting mixtures were centrifuged at 2500 rpm for 5 min. The solid gel-like part and the liquid part were separated. The volumes of the liquid portions and the weights of the gel portions were measured. Gels were placed on a glass substrate to compare the flowability of the gel portions. After 30 min, how much the gel-like meconiums moved from the starting point was recorded. Liquid volumes were measured in milliliters (ml), weights in grams (g), and distance in millimeters (mm). Results: It was determined that the solid part weights of N-acetylcysteine and amidotrizoate groups increased, while the solid part weights of the other groups decreased. It was determined that the decrease in solid part weights was mostly in the probiotic bacteria group. Test correlation between liquid fraction volume and solid weight was statistically determined. The group that moved the most on the glass substrate was the N-acetylcysteine group. Conclusions: Our study also showed that the gastrographin and NAC groups do indeed attract liquid to solid meconium. They cause an increase in solid part weight. Probiotic bacteria and pancreatic enzymes were found effective in terms of movement on the glass surface in the meconium samples they were applied to. The fibrinolytic enzyme produced for in vivo environment was found to be ineffective in the in vitro environment in our study. We think that pancreatic enzymes and probiotic bacteria can also be used in the medical treatment of meconium ileus. [ABSTRACT FROM AUTHOR]

Objectives: To describe the demography and spectrum of pancreatic, hepatobiliary, and gastrointestinal (GI) manifestations in children with cystic fibrosis (CF) from the Indian subcontinent. Methods: In this retrospective study, relevant information from the database of all children with CF below 18 years of age was collected and analyzed. Results: Among the total 109 children, 58 (53%) were from the southern states of India. The most common manifestation was pancreatic insufficiency (PI) in 85 (83%) children. Those with PI presented at an earlier age (1.8 vs. 6.9 years). Cirrhosis with portal hypertension was documented in only one patient and meconium ileus in three (2.8%). There was significant malnutrition in the PI cohort with a mean weight-for-age Z-score of − 3.17 ± 1.79 at diagnosis. Twenty-one (19%) patients had died during the follow-up and 18 (90%) of them had PI. There was no difference in the prevalence of selected pulmonary manifestations in the PI and pancreatic sufficient (PS) groups. Among children with PI, 78 were screened for ΔF508 mutation, 16 (21%) were homozygous, and 17 (22%) were heterozygous. In the PS group, only 2 (14%) were heterozygous for ΔF508 mutation. The median duration of follow-up of the patients was 1.8 (1.5) years. Conclusion: PI is the most common GI manifestation of children with CF and is associated with severe malnutrition and poor outcome. Timely identification and management of the comorbidities involving the digestive system are essential for better growth and quality of life in these children. [ABSTRACT FROM AUTHOR]

Intestinal obstruction is a common surgical cause of admission to the neonatal intensive care unit. Bilious vomiting, abdominal distension and feed intolerance are the hallmark features of presentation. The cause in these babies ranges from the proximal oesophageal atresia to the distal anorectal malformation and the approach and management of this wide differential remains a challenge for the surgeon and neonatologist combined. This short article provides an overview of approach, investigation and management of some of the surgically encountered causes of neonatal obstruction. [ABSTRACT FROM AUTHOR]

Objective: This study is a preliminary report in the efficacy of lateral T-stoma (LTS), which we developed as a solution for anastomosis dysfunction and/or short bowel syndrome in the jejunoileal atresia (JIA). Method: The primary pathologies and results of all cases who underwent lateral t-stoma between July 2017-2020 were evaluated retrospectively. Results: Case 1 with meconium pseudocysts secondary to intrauterine volvulus had Type-3A JIA at 50 cm from the Treitz, and end-oblique anastomosis was performed. The LTS was created proximal to the first anastomosis. on Day 15 due to abdominal distension with 5/1 diameter ratio. The patient was discharged 13 days later. The LTS was closed in the 10th month. In Case 2 with Type-2 JIA at 60 cm from the Treitz, primary LTS was created proximal to the anastomosis with 5/1 diameter ratio. Patient was discharged 15 days later. The LTS was closed in the 10th month. End-to-side anastomosis was performed in Case 3 with Type-2 JIA located 70 cm from Treitz. Anastomotic leakage occurred on Day 36, and the LTS was created with 6/1 diameter ratio. The LTS was closed in the 5th month. Prenatally diagnosed Case 4 was postnatally intubated due to pulmonary hypertension, and surfactant was applied. Intrauterine volvulus, meconium pseudocyst and intestinal perforation were detected at 50 cm from the Treitz, and jejunoileal anastomosis together with primary LTS was performed with 5/1 diameter ratio. Nasogastric feeding started on the 10th day, but patient was lost on Day 44 without extubation. Primary repair and end-stoma were performed in Case 5 with gastroschisis/intestinal atresia with perforation. Due to high-flow stomal discharge/weight loss, the ileo-colic anastomosis and LTS were performed proximal to anastomosis with 3/1 diameter ratio at 60 cm from Treitz on Day 68. Patient was discharged on Day 90. In Case 6 with prenatal diagnosis as meconium cyst with Type-2 JIA (at 65 cm from Treitz), primary LTS was created proximal to the anastomosis with 4/1 diameter ratio. The LTS was closed in the 14th month due to high-flow stomal discharge. Conclusion: Creation of lateral T-stoma proximal to the anastomosis in JIAs with large differences in diameters may shorten hospitalization time and relieve functional obstruction/short bowel syndrome. [ABSTRACT FROM AUTHOR]