Systematic review of phenotypes and genotypes of patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) (related to TTC7A).

The objective was to conduct a comprehensive review of the morbidity and mortality observed in published patients with gastrointestinal defects and immunodeficiency syndrome-1 (GIDID1) related to TTC7A abnormalities. This included phenotypic, genotypic, and therapeutic aspects. Twenty-seven articles were included, which represented a total of 83 patients. Mortality was of 65.8% of the cases with a mean death at 11.8 months. The mortality rate was 197.1 per 1,000 patients-years, which is significantly higher than other enteropathy types caused by defects in epithelial trafficking and polarity (such as MOY5B, STX3, EPCAM, SPINT2, TTC37 and SKIV2L). Prematurity was also significant, with an average gestational age of 34.8 weeks. Antenatal signs were observed in 30 patients, including 14 cases of hydramnios. Three distinct phenotypic associations were identified: immune deficiency and multiple intestinal atresia without enteropathy (ID/MI), immune deficiency and enteropathy without atresia (ID/E), and immune deficiency with multiple intestinal atresia and enteropathy (ID/ MIA/E). The mortality rates for these groups were 91.6%, 47.3% and 55.5%, respectively (p = 0.03), at earlier age of mortality for the ID/MIA phenotype and a later one for the ID/E phenotype. ELA syndrome (Enteropathy, Lymphopenia and Alopecia) was only observed in the ID/E group. Among the three genotypes (double variant Nonsense NS/NS, variant Missense/Nonsense MS/NS, double variant Missense MS/MS), NS/NS was significantly associated with the ID/MIA phenotype (77.8%), while MS/MS was associated with the ID/E phenotype (73.7%). Few therapies have been shown to be effective in treating enteropathy, particularly immunosuppressive therapies and hematopoietic stem cell transplants. The use of Leflunomide in one patient did not yield successful treatment outcomes. In conclusion, we confirm association between mortality and phenotype, which is itself linked to genotype.

Laparoscopic left paraduodenal hernia repair: A case report.

Paraduodenal hernias (PDH) pose a diagnostic challenge due to their varied presentations and rarity. We report a rare case report illustrating the clinical course, diagnostic approach, and management of PDH in a 19-year-old female patient with a history of neonatal laparotomy for intestinal atresia. The patient initially presented with chronic, diffuse abdominal pain, which had progressively worsened over 2 years. Physical examination revealed no palpable mass, with normal bowel sounds and vital signs. Imaging studies, including computed tomography of the abdomen, demonstrated protrusion of small bowel loops in the left upper abdominal quadrant consistent with a left paraduodenal hernia. Following laparoscopic exploration, a large defect was identified, and successful repair was performed, resulting in resolution of symptoms and a smooth postoperative recovery. Our case highlights the importance of maintaining a high index of suspicion for PDH in patients with chronic abdominal pain, particularly those with a history of abdominal surgeries. Prompt diagnosis and timely surgical intervention, preferably laparoscopic, can lead to favorable outcomes and improved quality of life for affected individuals.

Experience in the Management of Complex Apple Peel Intestinal Atresia in a Limited-Resource Health Center in Mexico.

Surgical treatment of complex intestinal atresia is challenging. Moreover, multiple surgical techniques have been described to treat these congenital malformations. As no single/universal technique is useful for every patient, individualized surgical treatment for these complex cases is mandatory. Isolated apple peel atresia (type IIIb), in coexistence with other types of atresia, is a rare event with a poor functional prognosis, which is difficult to treat surgically. Furthermore, the ability to achieve good surgical results becomes more difficult in resource-limited health facilities, such as the Hospital Pediatrico Moctezuma (Mexico City). The objective of this case report of two full-term female newborns with isolated apple peel atresia and an apple peel malformation with distal type IV atresia is to describe the successful surgical technique used in these patients and how to deal with certain postsurgical complications.

Efforts to improve outcomes among neonates with complex intestinal atresia: a single-center low-income country experience.

PURPOSE: Intestinal obstruction caused by intestinal atresia is a surgical emergency in newborns. Outcomes for the jejunal ileal atresia (JIA), the most common subtype of atresia in low-income countries (LIC), are poor. We sought to assess the impact of utilizing the Bishop-Koop (BK) approach to JIA in improving outcomes. METHODS: A retrospective cohort study was performed on children with complex JIA (Type 2-4) treated at our national referral hospital from 1/2018 to 12/2022. BK was regularly used starting 1/1/2021, and outcomes between 1/2021 and 12/2022 were compared to those between 1/2018 and 12/2020. Statistical significance was set at p < 0.05. RESULTS: A total of 122 neonates presented with JIA in 1/2018-12/2022, 83 of whom were treated for complex JIA. A significant decrease (p = 0.03) was noted in patient mortality in 2021 and 2022 (n = 33, 45.5% mortality) compared to 2018-2020 (n = 35, 71.4% mortality). This translated to a risk reduction of 0.64 (95% CI 0.41-0.98) with the increased use of BK. CONCLUSION: Increased use of BK anastomoses with early enteral nutrition and decreased use of primary anastomosis improves outcomes for neonates with severe JIA in LIC settings. Implementing this surgical approach in LICs may help address the disparities in outcomes for children with JIA.

Neurodevelopmental evaluation of children who were operated due to congenital anomaly with the 'Ages and Stages Questionnaire (ASQ)' and 'ASQ: Social-Emotional'.

BACKGROUND: The purpose of surgeries performed for congenital anomalies in children is to increase the survival rates and provide a developmental comparison to that of their peers. AIM: The objective of this study was to investigate the development of children following surgery for congenital anomalies and the risk factors affecting their development. METHODS: Our study included 33 children who underwent surgery for gastrointestinal anomalies in our clinic between 2011 and 2016, and did not have any syndrome, chromosomal abnormality, or additional abnormality. Developmental levels were evaluated using the Ages and Stages Questionnaire (ASQ) and the ASQ: Social-Emotional (ASQ: SE) scales adapted for the use on Turkish children. Data on patient history were obtained retrospectively from patient files. RESULTS: The study included 33 patients, including 11 with esophageal atresia, 6 with intestinal atresia, 11 with anorectal malformation, and 5 with Hirschsprung's disease. Developmental delay was found in the ASQ of 72.7% of the patients and the ASQ: SE tool was 27% of the patients. The rate of patients with scores below the threshold from each parameter of ASQ was higher than that of the normal population (p < 0.05). Development delay was detected using the ASQ scale in 100% of those with microcephaly at birth, in 91% of premature infants born between 1500 and 2500 g, and in 83.3% of those with low birth weight to gestational age. CONCLUSIONS: In children who underwent surgery due to congenital anomalies, an evaluation through developmental tests, a post-surgical follow-up process, and a referral to the relevant disciplines when necessary may increase the success of surgery as well as increase the life quality of the patient.

Bovine congenital defects recorded by veterinary practitioners.

A mobile phone app was used by 59 veterinary practitioners to collect case histories and images of 191 cattle with congenital defects distributed nationally over a 3-year period. The majority of cases were recorded during the spring calving season (57.6%) in pluriparous dairy dams. The majority of calves were recorded at birth or within the first week (66.5%) in singletons born at full-term. On the majority of farms (75.9%), this was the only congenitally deformed bovine recorded up to that point in the year and on the majority of farms, there were no congenitally deformed cattle recorded in the previous 5 years. The majority of congenital defects (83.5%) were recorded in the musculoskeletal or digestive systems. The three most commonly recorded individual defects were intestinal atresia (24.1%), schistosomus reflexus (20.4%) and ankylosis (6.8%); multiple defects were recorded in 13.1% of cases. These findings highlight the relatively high prevalence of intestinal atresia and schistosomus reflexus in calves attended by veterinary practitioners, which warrants implementation of preventive measures. The project highlights the potential benefits of veterinary-practitioner apps to detect changing trends in endemic, or the emergence of novel, congenital or other conditions.

Correlation analysis of feeding intolerance and defecation after primary anastomosis for neonatal intestinal atresia.

PURPOSE: To investigate the correlation between postoperative feeding intolerance and defecation, with a view to carrying out prognostic assessment and timely intervention for the recovery of postoperative gastrointestinal function. METHODS: The 114 neonates with congenital intestinal atresia who underwent primary anastomosis admitted to Shenzhen Children's Hospital from January 2014 to December 2022 were studied, and the patients' basic information, intraoperative conditions, postoperative feeding and defecation, and hospitalization time were retrospectively analyzed. RESULTS: The risk factors for feeding intolerance after primary anastomosis for intestinal atresia are the gestational days, the time of the first postoperative defecations, the number of defecations on the previous day and the average number of defecations before feeding. CONCLUSION: The incidence of postoperative feeding intolerance is higher in preterm infants, and pediatricians can decide the timing of breastfeeding on the basis of the patients' defecation. The focus on accurate defecation may be more meaningful in determining and predicting postoperative feeding intolerance in the infants.

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in CENPF, including one structural variant, giving a genetic diagnosis to the patients. Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine. She was homozygous for a donor splice variant in CENPF, NM_016343.3:c.1068+1G>A, causing skipping of exon 7, resulting in a frameshift. Patient 2 was a female with intestinal atresia, microcephaly, and a Peters anomaly. She had normal developmental milestones at the age of 7 years. She is compound heterozygous for CENPF NM_016343.3:c.5920dup and c.8991del, both frameshift. Patient 3 was a male with anomalies of the brain, eye, intestine, and kidneys. He was compound heterozygous for CENPF p.(Glu298Ter), and a 5323 bp deletion covering exon 1. CENPF exon 1 is flanked by repetitive sequences that may represent a site of a recurrent structural variation, which should be a focus in patients with Strømme syndrome of unknown etiology.

Challenging management of a baby with congenital multiple intestinal atresia, trisomy 18 and extremely low birth weight: a case report.

BACKGROUND: Extremely low birth weight (< 1000 g) still influences postsurgical prognosis in the neonatal and infantile periods. Additionally, the life expectancy of neonates with trisomy 18 is extremely poor owing to various comorbidities. Therefore, it takes courage to perform laparotomy for the purpose of treatment of congenital multiple intestinal atresia in a baby with an unpredictable life prognosis. CASE PRESENTATION: Fetal ultrasonography revealed cardiac malformation, intestinal dilation, and physical characteristics suggestive of a chromosomal abnormality in this case. The patient was diagnosed with trisomy 18 after birth, with an extremely low birth weight. An atrial septal defect, ventricular septal defect, dilated jejunum, and a very thin collapsed small intestine were found on ultrasonography. With a diagnosis of congenital small intestinal atresia, a challenging laparotomy was done at 3 days of age, with jejunal atresia and multiple distal small intestinal atresia were observed. The jejunal end and distal small intestinal stump were separated into stomas at the wound edge. Hypertrophic pyloric stenosis developed at the age of 3 months and resolved with medication. The patient gained weight (2 kg) by daily stool injection into anal side of the intestine and decompression against poor peritonitis of dilated jejunum using enteral feeding tube for the long period. Finally, we could perform intestinal reconstruction safely and successfully at the age of 9 months. Tracheotomy was performed due to difficulty in extubation associated with chronic lung disease. The patient was discharged at the age of 1 year and 3 months, and no major problems were noted at the age of 2 years. CONCLUSIONS: We treat congenital intestinal atresia in extremely low birth weight infants with severe chromosomal abnormalities and severe cardiac malformations as follows: Stoma creation is performed quickly to avoid deterioration of the patient's hemodynamics. After that, while continuing enteric management, palliative cardiovascular surgery is performed as necessary, and the patient's body weight and intestinal tract status are determined to allow safe intestinal reconstruction.

Type III colonic atresia in a 6-week-old kitten.

Case series summary: A 6-week-old intact male domestic shorthair kitten presented for abdominal distension, small stature, vomiting and inappetence. Abdominal radiographs showed marked generalized gaseous gastrointestinal dilation. Exploratory laparotomy revealed type III colonic atresia which was surgically corrected via jejunocolic anastomosis. The kitten survived the immediate postoperative period and was discharged from the hospital but subsequently declined and was euthanized 7 days after surgery. Relevance and novel information: The patient described in this report is a rare case of colonic atresia diagnosed in the postneonatal period. To our knowledge, this is the first ante-mortem case diagnosed with type III colonic atresia and description of surgical management reported in companion animal medicine. The patient had short-term survival after surgery that, with adjustments to the postoperative care, may result in long-term survival for future patients.

Colonic Atresia Associated with Biliary Atresia.

Colonic atresia (CA) is an uncommon type of intestinal atresia commonly associated with other anomalies, while biliary atresia (BA) is also rare but usually an isolated anomaly. The pathogenesis for either of the anomalies is unclear. The co-occurrence of both pathologies has not been mentioned in the literature. We here discuss the management of CA with BA and the review of pertinent literature.

Tubular intestinal duplication extending from the stomach to the ileum associated with multiple intestinal atresia and situs inversus: a case report.

BACKGROUND: Duplication of the alimentary tract can occur in any of its parts. For duodenal duplication, complete resection is particularly difficult when the ampulla of Vater is on the duplicated lumen and a deliberate management is necessary. CASE PRESENTATION: A 0-day female baby was referred to our department due to abdominal distention. The X-ray examination showed dextrocardia and opacity of the liver on the left side and abdominal ultrasonogram revealed remarkable intestinal dilatation. Therefore, urgent laparotomy was performed on the day of birth. Complete situs inversus of the abdominal organs was revealed, and the origin of the jejunum was on the left side and was accompanied by tubular intestinal duplication. The origin of the duplicated intestine was at the pancreatic head's dorsal area. There were two points of type Шa atresia on the ileum. Therefore, we spared the duplicated intestine with a length of 3 cm to secure the passage of the biliary and pancreatic juices by a functional-side-to-side anastomosis with a 45-mm Endo-GIA™ camel load (Medtronic, Minneapolis, MN, USA). The ileum was transected at the distal side of the atresia point, and end-to-end jejunoileostomy was performed. Postoperative gastrointestinal series revealed remnants of the duplicated alimentary tract on the dorsal area of the stomach. CONCLUSIONS: Identifying the position of the ampulla of Vater is crucial in the surgery of alimentary tract duplication with duodenal involvement. However, in the present case, it was difficult to identify whether the ampulla of Vater was on the true or duplicated lumen, and we had to spare the duplicated duodenum. Stapler anastomosis could be performed safely even in neonatal cases.

Special Populations-Surgical Infants.

Congenital gastrointestinal disorders and other surgical diagnoses share many common problems: increased nutritional requirements to prevent catabolism, enhance wound healing, and provide optimal growth; impaired motility and altered intestinal flora leading to feeding intolerance requiring long-term parenteral nutrition; gastroesophageal reflux and poor feeding mechanics requiring tube feedings and support; growth failure; poor barrier function and risk of infection; and other long-term sequelae. Consequently, the surgical "at-risk" infant requires specialized nutritional support to meet their increased requirements to ensure adequate growth and meet the increased demands from critical illness.

Appendiceal atresia causing recurrent right lower quadrant pain without inflammation.

An 11-year-old girl presented with recurrent right lower quadrant (RLQ) pain. There was no evidence of inflammation and appendiceal swelling except at the initial onset. The repeated presence of a small amount of ascites at the time of abdominal pain triggered the performance of exploratory laparoscopy. Intraoperative examination revealed a non-inflamed, unswollen appendix with a cord-like atretic segment at the middle part and an appendectomy was performed. At 46 months follow-up, she remained asymptomatic. In patients with recurrent RLQ pain of unknown cause, it is necessary to consider diagnostic laparoscopy while keeping appendiceal atresia in mind as a differential diagnosis.

Incidence of congenital complications related to COVID-19 infection during pregnancy.

PURPOSE: Infection with COVID-19 during pregnancy has been associated with a hypercoagulable state. It is unknown if maternal COVID-19 infection results in congenital anomalies secondary to intrauterine vascular accidents. This study sought to determine if the rate of in-utero vascular complications (intestinal atresia and limb abnormalities) that may be attributable to the hypercoagulable states associated with COVID-19 and pregnancy increased after the onset of the pandemic. METHODS: Pregnancy, neonatal, and congenital defect data from a single academic medical center and the partner's children's hospital were collected and compared to the period prior to onset of the pandemic. A subanalysis including pregnant woman 18 years or greater with documented COVID-19 infection during gestation between March 2020-2021 was performed. RESULTS: Rates of intestinal atresia did not differ prior to or after the onset of the pandemic (3.78% vs 7.23%, p = 0.21) nor did rates of limb deficiency disorders (4.41% vs 9.65%, p = 0.09). On subanalysis, there were 194 women with COVID-19 infection included in analysis: 135 (69.6%) were positive during delivery admission and 59 (30.4%) were positive earlier in their pregnancy. There was one infant born with intestinal atresia. CONCLUSION: We report a low incidence of congenital anomalies in infants born to mothers with COVID-19 infection. It remains unclear if the impact of COVID-19 on the coagulative state augments the normal pro-thrombotic state of pregnancy; ongoing surveillance is warranted.

Intestinal volvulus in utero causing torsion of dilated bowel with ileal atresia: a case report.

BACKGROUND: In utero intestinal volvulus with intestinal atresia is a rare and life-threatening condition that can cause torsion of the dilated bowel. The management and outcomes of this disease remain unclear. CASE PRESENTATION: A 19-year-old woman noticed a decrease in fetal motion at 35 weeks. Fetal ultrasound showed dilated fetal bowel and the whirlpool sign. The patient was referred to our hospital for an emergency cesarean section. The neonate's abdomen was dark and severely distended, and a laparotomy was performed. Necrotic ileum and cord-type intestinal atresia (Type II) were observed in the dilated terminal ileum. The necrotic ileum was resected, and a second-look surgery was performed the following day. Then, we anastomosed the remaining intestine, and the total intestine length was 52 cm. There were no surgical complications, and the patient was discharged without requiring total parenteral nutrition or fluid infusion. The patient's height and weight were within the - 2 standard deviation range of the growth curve at 5 months. CONCLUSIONS: Emergency and appropriate management of intestinal volvulus in utero causing torsion of the dilated bowel resulted in good outcomes in a patient with intestinal atresia. Perinatal physicians should be aware of this emergency condition and plan their treatment approach accordingly.

Ultrasonic Diagnosis of Intestinal Obstruction in Neonates-Original Article.

BACKGROUND: Intestinal obstruction in neonates is a common problem that requires prompt diagnosis and treatment, and ultrasound could be a potential tool for it. The purpose of this study was to investigate the accuracy of ultrasonography in diagnosing and identifying the cause of intestinal obstruction in neonates, the corresponding ultrasonic manifestations, as well as to utilize the diagnostic method. METHODS: We conducted a retrospective study of all neonatal intestinal obstruction in our institute between 2009 and 2022. The accuracy of ultrasonography in the diagnosis of intestinal obstruction and the identification of its etiology was compared with the results of operation as the gold standard. RESULTS: The accuracy of the ultrasonic diagnosis of intestinal obstruction was 91%, and the accuracy of the ultrasonic etiological diagnosis of intestinal obstruction was 84%. The main ultrasound findings for the neonatal intestinal obstruction were dilation and high tension of the proximal bowel and collapse of the distal intestinal. Other major manifestations were the presence of corresponding diseases causing intestinal obstruction at the junction of the dilated and collapsed bowel. CONCLUSIONS: Ultrasound has the advantages of being a flexible multi-section dynamic evaluation and a valuable tool to diagnose and identify the cause of intestinal obstruction in neonates.

Primary anastomosis is the preferred surgical approach for proximal intestinal atresia: a retrospective 20-year analysis.

PURPOSE: We aimed to compare the outcomes of primary anastomosis (PA) and enterostomy as treatments for intestinal atresia in neonates to identify the factors influencing the choice of modality. METHODS: We conducted a retrospective single-centre analysis of all neonates with intestinal atresia between 2000 and 2020 and measured the clinical outcomes. We performed logistic regression to identify factors that influenced the choice of surgical approach. RESULTS: Of 62 intestinal atresia neonates, 71% received PA. There were no significant differences in gestation, gender, age at operation, birth weight, or body weight at operation between the PA and enterostomy groups. PA reoperation was not required for 78% of patients, and the PA group had shorter hospital stays. Complications, operative time, duration on parenteral nutrition, time to full enteral feeding were comparable in both groups. Upon multivariate regression analysis, surgeons favoured PA in proximal atresia [Odds ratio (OR) 38.5, 95% Confidence Interval (CI) 2.558-579] while enterostomy in smaller body size [OR 2.75, CI 0.538-14.02] and lower Apgar score [OR 1.1, CI 0.07-17.8]. Subgroup analysis in these patient groups demonstrated comparable outcomes with both surgical approaches. CONCLUSION: Both surgical approaches achieved comparable outcomes, but PA was associated with short hospital stays and the avoidance of stoma-related complications, and reoperation was generally not required. This surgical approach was suitable for patients with proximal atresia, but enterostomy remained a sensible choice for patients with smaller body sizes and lower Apgar scores.

Prenatal detection of gastrointestinal bubbles since early pregnancy: Clues to correct diagnosis.

OBJECTIVE: To characterize gastrointestinal bubbles detected since early pregnancy and to describe corresponding diagnoses. METHOD: A retrospective cohort review of all cases in which gastrointestinal bubbles were detected starting in early prenatal transvaginal scans at 14-17 weeks of gestation between the years 2007 and 2021. Sonographic features and data regarding associated anomalies, genetic abnormalities, and pregnancy outcome were evaluated. RESULTS: Bubbles were detected in 23 of 27 073 early scans and a total of 31 394 scans. Diagnosis was available in 22 cases. Transient bubbles were detected in 10 cases and represented normal peristalsis. Fixed double bubble was detected in nine cases. Double-walled double bubbles represented duodenal duplications (three cases) and esophageal duplications (two cases). Simple cysts represented duodenal atresia (three cases) and a pancreatic cyst (one case). A triple bubble represented duodenal obstruction from Ladd bands in one case. Quadribubble was detected in two cases and represented jejunal atresia. CONCLUSION: Prenatal detection of gastrointestinal bubbles can accurately diagnose physiological versus pathological upper gastrointestinal conditions. Transient bubbles are physiological. Fixed double bubbles might represent either duodenal atresia or esophageal/duodenal duplications when a double wall is demonstrated. Three or four bubbles might represent more distal intrinsic or extrinsic obstruction.

Risk factors for, and genetic association with, intestinal atresia in dairy calves.

Intestinal atresia is an under-diagnosed congenital defect in cattle. It results in complete occlusion of the intestinal lumen and, unless surgically corrected, results in death or euthanasia of the affected calf. There is limited information on the incidence of this condition or on risk factors, including predisposing alleles, associated with the defect. In this study, active surveillance of 39 dairy farms over 8 years identified 197 cases of intestinal atresia among 56 454 calves born, an incidence of 0.35%. The majority of cases (83%) had occlusion of the jejunum, although cases with blockage of the colon (14%) or anus (4%) were also identified. The defect was twice as common in male as in female calves (p < 0.0001), and was more common in progeny of older cows than in progeny of first or second lactation cows (p < 0.001). Year and farm of birth were also significantly associated with incidence (p < 0.05). The incidence of intestinal atresia was highest among the progeny of three related Jersey sires, suggesting that a gene for intestinal atresia was segregating within this family. Linkage analysis utilising 28 affected progeny of two half-sib putative carrier sires identified two putative quantitative trait loci associated with the defect, on chromosomes 14 and 26, although no clear candidate genes were identified. There was no evidence of a sire-effect among the progeny of Holstein-Friesian sires. However, a case-control genome-wide association study involving 91 cases and 375 healthy controls, identified 31 SNP in 18 loci as associated with the defect in this breed. These data suggest that intestinal atresia in dairy calves is not a simple Mendelian trait as previously reported but a complex multigenic disorder.