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.

HISTOMORPHOLOGICAL FINDINGS AND CLINICO-RADIOLOGICAL CORRELATION OF INTESTINAL ATRESIA AT A TERTIARY CARE CENTRE

Background: An atresia is a congenital defect of a hollow viscus that results in complete obstruction of the lumen. Intestinal atresia is one of the most frequent causes of bowel obstruction in the newborn and can occur at any point in the gastrointestinal tract. This study was undertaken to study the histomorphological findings of intestinal atresia and to correlate it with different subtypes and clinico-radiological feature. Material and methods: This was a prospective observational study conducted in 24 months on the resected gastrointestinal tract of 40 neonatal intestinal obstruction cases admitted in Pediatric surgery ward received in the Department of Pathology, Indira Gandhi Institute of Medical Sciences, Patna. Control Group- A total of 5 cases of vitello-intestinal duct patency were taken as control and compared with the study group. Results: With respect to total 40 cases, there were six, i.e. 15.0% female babies and 34, i.e. 85.0% male babies studied. Out of that, 15 i.e. 37.50% were full term and 25, i.e. 62.5% were premature. Mucosa showed oedema, ulceration and flattening in 9 cases. Apart from flattening and oedema, mucosa was denuded at some places and also showed congestion and extravasated blood in 6 cases each. Abnormal villus configuration, calcium deposition in 4 cases each and hypertrophied mucosa were found in 3 cases. Luminal narrowing, loss of mucosa, duplication of mucosa and gangrenewere found in one case each. Sub mucosal changes showed congestion in 33 cases, oedema in 15, Fibrosis in 4, thickened submucosa in 2 cases and dilated irregular branching blood vessels, extravasted blood, calcification in 1 case each. Muscularispropria having changes i.e. thinning in 16 cases, congestion, hypertrophy in 4 cases each, focal loss in 3 cases, calcification in 2 cases and thinning in 2 cases. Similarly, histopathological changes in serosa shows serositis in 16 cases, congestion in 11 cases and thinning in 3 cases. Oedema and congestion were present in 2 cases, hypertrophy and calcification in 1 case each. Conclusion:In this study spectrum of histomorphological changes in the atretic segment has been described. Histomorphological changes at atretic segment can be valuable to surgeons in deciding the type of surgery and minimizing the postoperative intestinal dysmotility, which remains the most common complication of intestinal atresia.

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Rare autosomal-recessive variants in tetratricopeptide repeat domain 7A (TTC7A) gene have been shown to cause intestinal and immune disorders of variable severity. Missense mutations in TTC7A gene, usually retaining most of the functional motifs, is associated with relative milder clinical presentations. In this study, we reported a patient who was suffering from severe multiple intestinal atresia (MIA) with combined immunodeficiency (CID) that led to the pyloric diaphragm, ileum atresia, colon stenosis, and multiple episodes of sepsis. In spite of several surgeries and supportive treatment, the patient died of severe sepsis and multiple organ failure at age of 3 months. The whole exome sequencing (WES) of peripheral blood samples identified a novel homozygous TTC7A missense mutation (c. 206T&gt;C, p. L69P), inherited from his parents with consanguineous marriage. In silico analysis revealed that a hydrogen bond present between Gly65 and Leu69 in the wild-type TTC7A was disrupted by the Leu69Pro mutation. Moreover, this homozygous missense mutation led to a reduced TTC7A expression in lymphocytes and intestinal tissues, accompanied by impeded lymphocyte development. Further studies demonstrated that the PI4K-FAM126A-EFR3A pathway was impaired in colon tissues. Our data strongly support the linkage of severe MIA-CID with the missense mutation in TTC7A gene. More knowledge of the TTC7A protein functions will have important therapeutic implications for patients with MIA-CID.

Myosin phosphatase target subunit 1 governs integrity of the embryonic gut epithelium to circumvent atresia development in medaka, Oryzias latipes

BackgroundIntestinal atresia (IA) is a congenital gut obstruction caused by the absence of gut opening. Genetic factors are assumed to be critical for the development of IA, in addition to accidental vascular insufficiency or mechanical strangulation. However, the molecular mechanism underlying IA remains poorly understood.ResultsIn this study, to better understand such a mechanism, we isolated a mutant of Oryzias latipes (the Japanese rice fish known as medaka) generated by N-ethyl-N-nitrosourea mutagenesis, in which IA develops during embryogenesis. Positional cloning identified a nonsense mutation in the myosin phosphatase target subunit 1 (mypt1) gene. Consistent with known Mypt1 function, the active form of myosin regulatory light chain (MRLC), which is essential for actomyosin contraction, and F-actin were ectopically accumulated in the intestinal epithelium of mutant embryos, whereas cell motility, proliferation and cell death were not substantially affected. Corresponding to the accumulation site of F-actin/active MRLC, the intestinal epithelium architecture was disordered. Importantly, blebbistatin, a non-muscle myosin inhibitor, attenuated the development of IA in the mutant.ConclusionsCytoskeletal contraction governed by mypt1 regulates the integrity of the embryonic intestinal epithelium. This study provides new insight into our understanding of the mechanism of IA development in humans.Bullet PointsMedaka mypt1 mutants display intestinal atresia.The level of phosphorylated myosin regulatory light chain was higher in mypt1 mutant embryos than in wild-type embryos.The levels of F-actin appeared elevated in the intestinal epithelium of mypt1 mutants.Blebbistatin, an inhibitor of non-muscle myosin II, rescued intestinal atresia in mypt1 mutant embryos.

Maternal use of cough medications during early pregnancy and selected birth defects: a US multisite, case–control study

ObjectiveTo examine associations between maternal use of cough medications containing dextromethorphan (DM) without guaifenesin (glyceryl guaiacolate (GG)) (‘DM alone’), GG without DM (‘GG alone’) or DM +GG and major birth defects in offspring.DesignPopulation-based case–control study.SettingThe multisite, US National Birth Defects Prevention Study.ParticipantsMothers of 1644 children with neural tube defects (NTDs), 15 110 with non-NTDs, and 10 671 control children without a birth defect diagnosis.Main outcome measuresORs and 95% CIs.ResultsFor NTD analysis, 1.7% of mothers of case children and 1.2% of mothers of control children reported using DM alone, 1.1% and 0.6% GG alone, and 0.4% and 0.2% DM +GG. Respective percentages for non-NTD analysis were 2.2% and 1.9% for DM alone, 1.7% and 1.6% for GG alone, and 0.5% and 0.4% for DM +GG. For all NTDs and subtypes, adjusted OR estimates for DM alone were near the null with 95% CIs that included 1.0. Estimates (95% CI) were 1.8 (1.0 to 3.3) for GG alone and 1.8 (0.6 to 4.8) for DM +GG with all NTDs and 2.2 (1.1 to 4.3) for GG alone with spina bifida. Of the 45 adjusted OR estimates for non-NTDs, 39 ranged from 0.5 to 1.6 with 95% CIs that included 1.0. Near twofold or higher estimates (95% CI) were observed for the remainder and included 1.9 (1.0 to 3.7) for hydrocephalus, 2.9 (1.3 to 6.5) for atrioventricular septal defect and 1.8 (1.1 to 3.0) for transverse limb deficiency with DM alone; 2.1 (1.1 to 4.0) for small intestinal atresia/stenosis and 2.1 (0.9 to 4.5) for omphalocele with GG alone; and 3.2 (1.5 to 6.9) for gastroschisis with DM +GG.ConclusionsMaternal use of medications containing DM alone, GG alone or DM +GG showed positive associations with a small number of birth defects. These observations, which should be interpreted with caution due to small proportions of exposed mothers, may represent true signals or chance findings and warrant evaluation in future studies.

CONGENITAL COLONIC ATRESIA PRESENTING AS PNEUMOPERITONEUM: A RARE CLINICAL ENTITY

Introduction:Colonic Atresia is the least common type of Intestinal Atresia which occurs as a result of ischemic necrosis of a segment of large intestine.It presents with abdominal distention,bilious vomiting and failure to pass meconium.Perforation leads to peritonitis and sepsis Case Report:We describe a 3 day old male baby presenting with Colonic Atresia type IIIa and pneumoperitoneum and his surgical management Conclusion:In conclusion, Colonic Atresia is managed by either by colostomy or primary anastomosis.Terminal ileostomy,as in this case is done when there is Ascending Colon atresia with distal ileal perforation.

Gastroschisis Complicated by Colonic Atresia

Introduction: Gastroschisis with colonic atresia is a rare association. Due to its rarity and variation in presentation, no standardized surgical treatment option exists. Complicated gastroschisis is associated with a higher morbidity and mortality than intestinal atresia or gastroschisis alone. Methods: This is a case report of a neonate with congenital gastroschisis. On day of life 1, a silo was placed. On day of life 4, the upper portion of silo contents appeared more congested with dusky discoloration and the patient was oliguric. She was taken to the operating room for exploration. Results: The patient required resection of the terminal ileum and an atretic portion of the cecum due to necrosis. Four days later, primary closure of the gastroschisis defect was performed with creation of an end ileostomy. Elective ileostomy takedown was performed 5 months later. She returned to the operating room for anastomotic revision and gastrostomy tube placement for intestinal dysmotility and prolonged ileus. Tube feedings were discontinued 3 months post-operatively. Conclusions: Gastroschisis with intestinal atresia is associated with increased hospital length of stay, longer duration of parenteral nutrition, more severe intestinal dysfunction, increased surgical complications, and higher mortality than gastroschisis or intestinal atresia alone. With associated colonic atresia, loss of a significant length of bowel due to necrosis, including the ileocecal region, is almost unavoidable. An already compromised blood supply to the atretic bowel is further impaired by a tight abdominal wall defect and postnatal increases in gravitational force. Complicated gastroschisis remains a complex surgical challenge requiring further discussion.

Intrauterine Intussusception Presenting as Fetal Ascites and Meconium Peritonitis

Intussusception is a well-known cause of intestinal obstruction in children. Its occurrence in fetus as an intrauterine incidence is extremely rare and poses a diagnostic difficulty. Intrauterine intussusception may result in intestinal atresia once the gangrenous segment resorbed. However, a very late occurrence of intussusception just prior to delivery may present as meconium peritonitis. We are reporting a case of premature baby who was born at 35 weeks gestation via emergency caesarean for breech in labour. Routine scan 4 days prior to the delivery showed evidence of fetal ascites. She was born with good Apgar Score and weighed 2.5kg. Subsequently she developed respiratory distress syndrome requiring mechanical ventilation. She passed minimal meconium once after birth then developed progressive abdominal distension and vomiting. Abdominal radiograph on day 4 of life revealed gross pneumoperitoneum and bedside percutaneous drain was inserted to ease the ventilation. Upon exploratory laparotomy, a single ileal perforation was seen 20cm from ileocecal junction with an intussusceptum was seen in the distal bowel. Gross meconium contamination and bowel edema did not favour the option of primary anastomosis, thus stoma was created. Reversal of stoma was performed a month later and she recovered well. Fetus with a complicated intrauterine intussusception may present with fetal ascites and their postnatal clinical and radiological findings need to be carefully assessed for evidence of meconium peritonitis; in which a timely surgical intervention is required to prevent the sequelae of prolonged intraabdominal sepsis in this premature baby.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S18