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Children (Basel, Switzerland) Dec 2020Gastroschisis, the most common type of abdominal wall defect, has seen a steady increase in its prevalence over the past several decades. It is identified, both... (Review)
Review
Gastroschisis, the most common type of abdominal wall defect, has seen a steady increase in its prevalence over the past several decades. It is identified, both prenatally and postnatally, by the location of the defect, most often to the right of a normally-inserted umbilical cord. It disproportionately affects young mothers, and appears to be associated with environmental factors. However, the contribution of genetic factors to the overall risk remains unknown. While approximately 10% of infants with gastroschisis have intestinal atresia, extraintestinal anomalies are rare. Prenatal ultrasound scans are useful for early diagnosis and identification of features that predict a high likelihood of associated bowel atresia. The timing and mode of delivery for mothers with fetuses with gastroschisis have been somewhat controversial, but there is no convincing evidence to support routine preterm delivery or elective cesarean section in the absence of obstetric indications. Postnatal surgical management is dictated by the condition of the bowel and the abdominal domain. The surgical options include either primary reduction and closure or staged reduction with placement of a silo followed by delayed closure. The overall prognosis for infants with gastroschisis, in terms of both survival as well as long-term outcomes, is excellent. However, the management and outcomes of a subset of infants with complex gastroschisis, especially those who develop short bowel syndrome (SBS), remains challenging. Future research should be directed towards identification of epidemiological factors contributing to its rising incidence, improvement in the management of SBS, and obstetric/fetal interventions to minimize intestinal damage.
PubMed: 33348575
DOI: 10.3390/children7120302 -
Korean Journal of Radiology Jan 2022Gastrointestinal (GI) emergencies in neonates and infants encompass from the beginning to the end of the GI tract. Both congenital and acquired conditions can cause... (Review)
Review
Gastrointestinal (GI) emergencies in neonates and infants encompass from the beginning to the end of the GI tract. Both congenital and acquired conditions can cause various GI emergencies in neonates and infants. Given the overlapping or nonspecific clinical findings of many different neonatal and infantile GI emergencies and the unique characteristics of this age group, appropriate imaging is key to accurate and timely diagnosis while avoiding unnecessary radiation hazard and medical costs. In this paper, we discuss the radiological findings of essential neonatal and infantile GI emergencies, including esophageal atresia and tracheoesophageal fistula, hypertrophic pyloric stenosis, duodenal atresia, malrotation, midgut volvulus for upper GI emergencies, and jejunoileal atresia, meconium ileus, meconium plug syndrome, meconium peritonitis, Hirschsprung disease, anorectal malformation, necrotizing enterocolitis, and intussusception for lower GI emergencies.
Topics: Diagnostic Imaging; Duodenal Obstruction; Humans; Infant; Infant, Newborn; Intestinal Atresia; Intussusception
PubMed: 34983099
DOI: 10.3348/kjr.2021.0111 -
Journal of Neonatal Surgery 2017Closed gastroschisis is a rare entity usually associated with intestinal atresia and short bowel syndrome. We report two cases of closed gastroschisis presenting with...
Closed gastroschisis is a rare entity usually associated with intestinal atresia and short bowel syndrome. We report two cases of closed gastroschisis presenting with neonatal intestinal obstruction and para-umbilical evisceration without an abdominal defect.
PubMed: 28920021
DOI: 10.21699/jns.v6i3.599 -
International Journal of Surgery Case... Jan 2022Intestinal atresia more common in the small bowel, apart from large intestine. Jejunal atresia characterized by complete occlusion of the intestinal lumen, is a rare...
INTRODUCTION
Intestinal atresia more common in the small bowel, apart from large intestine. Jejunal atresia characterized by complete occlusion of the intestinal lumen, is a rare congenital anomaly occurring in 1 in 12,000 live births.
IMPORTANCE
The jejunal atresia can be single or multiple occurring anywhere from the ligament of Treitz to the jejuno-ileal junction, requiring immediate surgical attention to prevent mortality and morbidity among these neonates.
CASE PRESENTATION
A rare case of jejunal atresia in neonate and its management has been discussed here.
CLINICAL DISCUSSION
Surgical excision of the involved bowel and end to end anastomosis of the normal bowel is definitive treatment.
CONCLUSION
The morbidity associated with post-operative hypo persistaltic bowel can be minimised by adding oral prokinetics in controlled manner.
PubMed: 34972013
DOI: 10.1016/j.ijscr.2021.106714 -
The Pan African Medical Journal 2023
Topics: Humans; Intestinal Atresia
PubMed: 37545606
DOI: 10.11604/pamj.2023.45.34.39092 -
Brain : a Journal of Neurology Dec 2021Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with...
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα's role in PI4P generation requires its assembly into a heterotetrameric complex with EFR3, TTC7 and FAM126. Sequence alterations in two of these molecular partners, TTC7 (encoded by TTC7A or TCC7B) and FAM126, have been associated with a heterogeneous group of either neurological (FAM126A) or intestinal and immunological (TTC7A) conditions. Here we show that biallelic PI4KA sequence alterations in humans are associated with neurological disease, in particular hypomyelinating leukodystrophy. In addition, affected individuals may present with inflammatory bowel disease, multiple intestinal atresia and combined immunodeficiency. Our cellular, biochemical and structural modelling studies indicate that PI4KA-associated phenotypical outcomes probably stem from impairment of PI4KIIIα-TTC7-FAM126's organ-specific functions, due to defective catalytic activity or altered intra-complex functional interactions. Together, these data define PI4KA gene alteration as a cause of a variable phenotypical spectrum and provide fundamental new insight into the combinatorial biology of the PI4KIIIα-FAM126-TTC7-EFR3 molecular complex.
Topics: Female; Hereditary Central Nervous System Demyelinating Diseases; Humans; Intestinal Atresia; Male; Minor Histocompatibility Antigens; Pedigree; Phosphotransferases (Alcohol Group Acceptor); Polymorphism, Single Nucleotide; Primary Immunodeficiency Diseases
PubMed: 34415310
DOI: 10.1093/brain/awab313