Growth from Birth to 30 months for Infants Born with Congenital Gastrointestinal Anomalies and Disorders.

OBJECTIVE: This study aimed to investigate growth among neonates with gastrointestinal disorders. STUDY DESIGN: Inclusion criteria included neonates with gastroschisis, omphalocele, intestinal atresia, tracheoesophageal fistula, Hirschsprung's disease, malabsorption disorders, congenital diaphragmatic hernia, and imperforate anus born between 2010 and 2018. Anthropometrics were collected for the first 30 months, and a subgroup analysis was performed for gastroschisis infants. RESULTS: In 61 subjects, 13% developed severe growth failure within the first month. One-, four-, and nine-month weight and length z-scores were less than birth weight in all infants (p < 0.05). In infants with gastroschisis, a similar pattern was observed for weight z-scores only (p < 0.05). From birth to 15 months, head circumference z-score increased over time in all infants (p = 0.001), while in gastroschisis infants, weight, length, and head circumference z-scores increased over time (p < 0.05). CONCLUSION: In a cohort of infants with gastrointestinal disorders, growth failure was followed by catch-up growth.

The effect of pre- and post-remote ischemic conditioning reduces the injury associated with intestinal ischemia/reperfusion.

PURPOSE: Midgut volvulus is associated with intestinal ischemia/reperfusion (IR) injury and can progress to severe intestinal damage. Remote ischemic conditioning (RIC) reduces IR-induced injury in distant organs. The aim of this study was to investigate whether RIC protects the intestine from IR injury. METHODS: We investigated intestinal IR injury in 3 weeks old SD rats. Animals underwent: (i) sham laparotomy, (ii) intestinal IR injury, (iii) intestinal IR + RIC during ischemia, or (iv) intestinal IR + RIC after reperfusion. Intestinal IR injury was achieved by 45 min occlusion of superior mesenteric artery followed by de-occlusion. RIC was administered via four cycles of 5 min of hind limb ischemia followed by 5 min reperfusion. Animals were sacrificed 24 h after surgery and the ileum was harvested for evaluation. RESULTS: Intestinal injury was present after IR. However, this injury was reduced in both IR + RIC groups. Expression of inflammatory cytokine IL6 was lower in IR + RIC groups compared to IR alone. Carbonyl protein was also significantly lower in IR + RIC compared to IR, indicating lower oxidative stress in both IR + RIC groups. CONCLUSION: Remote ischemic conditioning attenuated intestinal injury, inflammation, and oxidative stress in experimental intestinal ischemia/reperfusion injury. Remote ischemic conditioning may be useful in children with midgut volvulus to reduce the intestinal injury. LEVEL OF EVIDENCE: Experimental study. TYPE OF STUDY: Animal experiment.

Intestinal Obstruction of Congenital Origin: A Case Report.

Congenital bands are rare causes of intestinal obstruction and often leads to diagnostic challenges. Diagnostic delays in cases of mechanical obstruction might lead to irreversible bowel ischemia and perforation. Presently described is a case of an 18 month young child with severe vomiting developed for one day. The child was initially thought to have acute viral enteritis and treated accordingly. Due to the severity, an X-Ray and computed tomography scan were sent which pointed towards the possibility of having congenital bands. He was treated operatively. The child was kept under observation for eleven days and was discharged. Although rare, intestinal obstruction due to congenital bands must be considered when treating a child with severe vomiting. Keywords: case reports, congenital abnormalities, intestinal obstruction, vomiting.

Clinical characteristics of gastrointestinal tract duplications in children: A single-institution series review.

Due to the various presentations of gastrointestinal tract duplications (GTD), diagnosing and management for this disease might be varied and difficult. We intend to improve the experiences for these difficult, in terms of the clinical presentations, diagnostic investigations, management.We reviewed recent literature and retrospectively analyzed 72 pediatric patients with enteric duplication. Diagnosis was confirmed by surgery and pathological examination for imaging characteristics and clinical and pathological features.The ages of patients ranged from one month to 12.5 years. The clinical presentations of the patients included 57 cases with abdominal pain, followed with nausea or vomiting, abdominal distension, etc. All of the patients were diagnosed by ultrasonography, and most of them presented as intra-abdominal cystic masses. Four cases were diagnosed with the cysts other than GTDs, like, mesenteric cyst, chledochal cyst and abscess, and so on. Computed tomography was performed on 65 patients. X-rays and barium meal showed the outline of the cyst structure, with intestinal displacement due to the pressure from the cyst. Among the 72 cases of enteric duplication, 45 were located with ileocecal area, 41 were ileal and 8 were colonic duplications.Enteric duplication is very rare in children and is prone to misdiagnosis. The preoperative diagnosis of enteric duplication can be improved through comprehensive analysis of various imaging exams and closely related clinical presentations.

[The primary care of a patient with a history of a gastrointestinal malformation and abdominal wall or diaphragmatic defects]. / La atención primaria del paciente con el antecedente de una malformación digestiva, defectos de pared abdominal o diafragmáticos.

Survival of patients with congenital malformation has improved over the last decades. Primary care paediatricians must be aware of the most common problems that this group of patients suffers. More importantly, paediatricians can offer a holistic view that is often lost in specialised consultation. This article is focused on common congenital malformation, such as oesophageal atresia, abdominal wall defects, anorectal malformation and Hirschsprung disease, and congenital diaphragmatic hernia. The main problems are shown, with special emphasis on long-term complications and all the dimensions of the individual.

Congenital band adhesion causing a proximal jejunal obstruction: an uncommon presentation and diagnosis.

A 20-year-old woman with no medical or surgical history presented with acute onset crampy abdominal pain on a background of uninvestigated similar chronic abdominal pain. She became obstructed during her admission and a contrast swallow showed a complete obstruction at the level of the proximal jejunum. A diagnostic laparoscopy revealed a congenital band adhesion from the greater omentum to the proximal jejunum to be the cause, and dissection of the band relieved her obstruction. This case presents a rare cause of mechanical obstruction, and highlights the seriousness of investigating obstructive symptoms even in atypical patient populations.

Advances in Acoustic Signal Processing Techniques for Enhanced Bowel Sound Analysis.

With the invention of the electronic stethoscope and other similar recording and data logging devices, acoustic signal processing concepts and methods can now be applied to bowel sounds. In this paper, the literature pertaining to acoustic signal processing for bowel sound analysis is reviewed and discussed. The paper outlines some of the fundamental approaches and machine learning principles that may be used in bowel sound analysis. The advances in signal processing techniques that have allowed useful information to be obtained from bowel sounds from a historical perspective are provided. The document specifically address the progress in bowel sound analysis, such as improved noise reduction, segmentation, signal enhancement, feature extraction, localization of sounds, and machine learning techniques. We have found that advanced acoustic signal processing incorporating novel machine learning methods and artificial intelligence can lead to better interpretation of acoustic information emanating from the bowel.

Body composition and cognition in preschool-age children with congenital gastrointestinal anomalies.

BACKGROUND: Children with congenital gastrointestinal anomalies (CGIAs) experience multiple stressors while hospitalized in neonatal intensive care units during an essential time of growth and development. Early stress and inadequate nutrition are linked to altered growth patterns and later neurodevelopmental delays. In other at-risk populations, improved fat-free mass (FFM) accretion is associated with improved cognitive outcomes. OBJECTIVE: To determine if body composition is associated with cognitive function in preschool-age children with CGIAs. STUDY DESIGN: An observational study examined body composition and cognition in 34 preschool-age children with CGIAs. Anthropometric measurements and body composition testing via air displacement plethysmography were obtained. Measurements were compared with a reference group of healthy, term-born children. Cognition was measured with the NIH Toolbox Early Childhood Cognition Battery. Linear regression was used to test the association of body composition with cognitive function. RESULTS: Compared with the reference group, children with CGIAs had similar anthropometric measurements (weight, height, and body mass index z-scores) and body composition at preschool-age. Processing speed scores were lower than standardized means (p = 0.001). Increased FFM was associated with higher receptive vocabulary scores (p = 0.001), cognitive flexibility scores (p = 0.005), and general cognitive function scores (p = 0.05). CONCLUSIONS: At preschool-age, children with CGIAs have similar growth and body composition to their peers. In children with CGIAs, higher FFM was associated with higher cognitive scores. Closer tracking of body composition and interventions aimed at increasing FFM may improve long-term outcomes in this population.

Comparative study of intestinal malrotation in infant, children, and adult in a tertiary care center in India.

BACKGROUND: Intestinal malrotation (IM) is an uncommon condition and has varied presentation in different age groups. The study was aimed to evaluate differences in the clinical presentation, diagnosis, treatment, and outcome of IM in infants, children, and adults. METHODS: Data were collected from records of 79 patients with IM. Based on the age of presentation, these patients were categorized into three age groups: infants (up to 1 year), children (1-18 years), and adults (> 18 years). Follow up data were analyzed during 8 to 16 year after corrective surgery. RESULTS: The overall age of presentation ranged from 8 days to 60 years. Twenty-eight, 29, and 22 patients belonged to the infant, children, and adult groups, respectively. The classical presentation of IM (bilious vomiting) was significantly higher in the infant compared to the children and adult groups (100% vs. 62% vs. 9.8%; p < 0.001). All infants presented with acute symptoms. However, children and adults had subacute or chronic presentations, respectively. The incidence of volvulus was significantly higher in the infant group than other two groups, (100% vs. 41% vs. 10%; p < 0.001). Doppler ultrasound was highly accurate in infants (100%), whereas contrast-enhanced computed tomography (CECT) abdomen was found to be most useful in adults. Postoperative complications were more common in adults. CONCLUSION: Intestinal malrotation can present in patients of any age group. An increased awareness about the atypical presentations of this condition among adults may reduce the time to accurate diagnosis of this disease.

Congenital pyloric atresia - nine new cases: Single-center experience of the long-term follow-up and the lessons learnt over a decade.

BACKGROUND: Congenital pyloric atresia (CPA) is a rare anomaly with an incidence of 1 in 100,000 live births. Depending on the type of anomaly patients can either present in the neonatal period or later in life with subtle nonspecific signs and symptoms. We present our institute's experience in handling these cases over the last decade and highlight lessons learnt. MATERIALS AND METHODS: We retrospectively reviewed records of patients diagnosed with CPA and managed at our centre between Jan 2006 to June 2016. We looked into the period of gestation, birth weight, gender, age at onset of symptoms, age at presentation to the hospital, symptoms, investigations, associated anomalies, management and outcomes and follow up periods. RESULTS: Nine patients were operated during the ten year period of study (6 males and 3 females). The median age at onset of symptoms was 06 months (01 day-36 months) and the median age of reporting to the hospital was 07 months (01 day-44 months) with a mean delay of 5 months between onset of symptoms and reporting to hospital. Six patients (67%) had associated anomalies including one with posterior urethral valve which has been reported for the first time in literature. Four out of five (80%) late presenters underwent an upper gastrointestinal endoscopy for diagnostic confirmation. All patients were operated upon and Type 1 CPA was seen in five patients (56%), Type 2 in two patients (33%) and Type 3 in one patient (11%). The overall survival was 89% as one patient with associated Epidermolysis Bullosa expired after 4 months due to fulminant sepsis. Three patients were lost to follow up and amongst the remaining five; the median follow up period is 36 months. CONCLUSION: CPA is a rare entity that may present late with subtle signs like failure to thrive and nonbilious vomit. A high index of suspicion is mandated in these cases and an Upper Gastrointestinal Endoscopy will help in early diagnosis and avoid further unnecessary investigations. A feeding jejunostomy may benefit malnourished sick children before definitive surgery. LEVEL OF EVIDENCE: Level 3, Type of study: Retrospective study.

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Isolated congenital diaphragmatic hernia is often a sporadic event with a low recurrence risk. However, underlying genetic etiologies, such as chromosome anomalies or single gene disorders, are identified in a small number of individuals. We describe two fetuses with a unique pattern of multiple congenital anomalies, including diaphragmatic hernia, short bowel and asplenia, born to first-cousin parents. Whole exome sequencing showed that both were homozygous for a missense variant, c.950A>C, predicting p.Asp317Ala, in the H.20-Like Homeobox 1 (HLX1) gene. HLX is a homeobox transcription factor gene which is relatively conserved across species. Hlx homozygous null mice have a short bowel and reduced muscle cells in the diaphragm, closely resembling the anomalies in the two fetuses and we therefore suggest that the HLX mutation in this family could explain the fetal findings.

Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies.

The most impressive phenotypic appearance of sirenomelia is the presence of a 180°-rotated, axially positioned, single lower limb. Associated gastrointestinal and genitourinary anomalies are almost always present. This rare anomaly is still the subject of ongoing controversies concerning its nosology, pathogenesis, and possible genetic etiology. Sirenomelia can be part of a syndromic continuum, overlapping with other complex conditions including caudal dysgenesis and VATER/VACTERL/VACTERL-H associations, which could all be part of a heterogeneous spectrum, and originate from an early defect in blastogenesis. It is imaginable that different "primary field defects," whether or not genetically based, induce a spectrum of caudal malformations. In the current study, we review the contemporary hypotheses and conceptual approaches regarding the etiology and pathogenesis of sirenomelia, especially in the context of concomitant conditions. To expand on the latter, we included the external and internal dysmorphology of one third trimester sirenomelic fetus from our anatomical museum collection, in which multiple concomitant but discordant anomalies were observed compared with classic sirenomelia, and was diagnosed as VACTERL-H association with sirenomelia. Birth Defects Research 109:791-804, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.

Assessment of developmental and radiological long-term outcomeof children with surgically treated midgut volvulus.

BACKGROUND/AIM: The aim is to evaluate the long-term outcome of asymptomatic patients who underwent surgical correction for midgut volvulus. MATERIALS AND METHODS: Seven patients managed surgically for midgut volvulus in the last 3 years were included. Demographic features, symptoms at presentation, diagnoses, surgical procedures, and complications were recorded. Patients were then contacted for follow-up and evaluation of long-term outcomes. General physical conditions, anthropometric parameters, feeding habits, and defecation histories were evaluated. Laboratory examinations were performed. Color Doppler ultrasonography (CDUS) was performed to evaluate blood flow in the superior mesenteric artery (SMA). RESULTS: In total, seven patients were identified. The median age at admission was 3 days (0-90 days). Mean age at follow-up was 17 ± 2 months. Growth parameters were normal in all cases. Four patients had low levels of ferritin and transferrin saturation. One patient had microcytic anemia. Another patient had low serum zinc level. One patient who had ileal resection had a high level of steatorrhea in stool examination. In CDUS, SMA blood flow volume was low in all cases. Peak-systolic velocity and resistance index were low in all but one case. CONCLUSION: Despite uneventful postoperative courses, all patients operated on for midgut volvulus showed mild laboratory changes and decreased blood flow in the SMA in long-term follow-up.

"Serpentine-like syndrome"-A very rare multiple malformation syndrome characterised by brachioesophagus and vertebral anomalies.

"Serpentine-like syndrome" is a severe and rare association of multiple congenital malformations, characterised by brachioesophagus, secondary intrathoracic stomach, and vertebral anomalies. Other associated anomalies have been described, such as malposition and herniation of abdominal organs. We report the natural history of a baby girl born at 29 weeks of gestation with intra uterine growth restriction, short neck, large rachischisis from cervical to thoracic spine, a very short oesophagus, thoracic stomach associated with a midline diaphragmatic hernia, malrotated gut and median cleft lip. Most of these anomalies were detected antenatally. Molecular karyotype was normal. She died at age 12 days. To our knowledge, the present patient represents the 8th report of a case of "Serpentine-like syndrome". Brachioesophagus and congenital vertebral anomalies, in particular rachischisis, are the cardinal features of this condition. All reported cases have been sporadic and the cause is still unknown. We believe that the specificity of the presentation as well as the similarities between available descriptions of patients suggests a common, yet to identify, molecular cause, possibly involving a developmental "toolkit"/homeobox gene or related pathways.

Meconium Peritonitis: Correlation of Antenatal Diagnosis and Postnatal Outcome - An Institutional Experience over 10 Years.

OBJECTIVE: To identify the fetal and neonatal imaging characteristics of meconium peritonitis (MP) and their clinical outcome. We also studied the role of prenatal ultrasound (US) in antenatal diagnosis and its use in predicting the need for surgical intervention postnatally. MATERIAL AND METHODS: We conducted a retrospective analysis of a cohort of 18 infants with MP from April 2004 to March 2014. RESULTS: Prenatal US detected MP-related abnormalities in 15/18 (83.3%) fetuses. The median gestational age at initial diagnosis of MP was 24 weeks (range 19-31). Fetal ascites (93.3%) was the most common prenatal US finding. Of the 18 infants, 12 (66.7%) required surgical intervention. The overall survival rate was 94.4%. All infants with a prenatal US scan showing meconium pseudocyst or bowel dilatation required surgical intervention postnatally. DISCUSSION: A combination of ascites, intraperitoneal calcification, and echogenic bowel on fetal US raises a high suspicion of MP. Surgical intervention is indicated in the presence of meconium pseudocyst on fetal or postnatal US scan. Antenatal US has high specificity (100%) but low sensitivity (22.2%) in detecting meconium pseudocyst. A favorable outcome can be expected with early antenatal diagnosis and timely surgical intervention in a tertiary hospital.