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Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal.

We present a patient with microcephaly, jejunal atresia, aberrant right tracheobronchial tree, mild left blepharoptosis, and corectopia (irregular pupil), left sectoral iris stromal hypoplasia and peripheral anterior synechia, and 46,XY sex reversal. Testosterone and dihydrotestosterone (DHT) levels were within normal limits for a male infant at 3 weeks of age. Gonadectomy at age 18 months revealed immature testis tissue and no evidence of Müllerian structures. PCR amplification of the androgen receptor (AR) gene and flanking genomic regions revealed no evidence for deletion. Array-comparative genomic hybridization (array-CGH) for assessment of gene dosage in other regions of the genome was normal. This patient represents a multiple anomaly disorder similar to intestinal atresia-ocular anomalies-microcephaly syndrome (MIM#243605) but incorporating 46,XY sex reversal with testicular tissue, demonstrating a defect in the sexual differentiation pathway.

Abnormalities, Multiple↗

Familial syndromic duodenal atresia: Feingold syndrome.

Familial duodenal atresia occurs as part of Feingold syndrome. Other features of this variable autosomal dominant condition include tracheo-oesophageal fistula and oesophageal atresia, microcephaly, hand and foot anomalies, facial dysmorphism, and developmental delay. We report a father and two sons with Feingold syndrome. One has bilateral dysplastic kidneys which have not been reported previously.

Abnormalities, Multiple↗

Cytomegalovirus infection as a possible underlying factor in neonatal surgical conditions.

BACKGROUND: The seroprevalence of cytomegalovirus (CMV) in France is about 38%. Fetal contamination during pregnancy is 40%. We report a series of gastrointestinal conditions associated with CMV in neonates. PATIENTS AND METHOD: This is a retrospective study on neonates operated on for gastrointestinal conditions in our institution between January 1998 and December 2002. Only children with suspected CMV infection (characteristic nuclear inclusions) on pathologic examination were reviewed. We analyzed the age of onset, the clinical and radiologic presentation, and the serologic findings in mother and child. RESULTS: The study included 3 boys and 2 girls. The average gestational age was 34.4 weeks (range, 28-39 weeks) and the average birth weight was 2364 g (range, 790-3580 g). Two infants had necrotizing enterocolitis, 2 had pathologic condition related to Meckel's diverticulum (volvulus and perforation, respectively), and 1 had distal ileal atresia. All surgical specimens showed characteristic CMV nuclear inclusions. Maternal serologic studies were positive for CMV in only 1 case with CMV IgM detected in serum. Two babies had a positive serological finding for CMV with detection of CMV IgM, and 2 had CMV isolated on urinary viral culture (one had both). CONCLUSION: Cytomegalovirus is a viral agent that may be involved in surgical pathology in neonates. To confirm the causal relationship between CMV and these pathologic findings, a large-scale longitudinal prospective screening of CMV in neonates with intestinal conditions should be performed.

Cytomegalovirus Infections↗

Localized bowel distension in the newborn: a review of the plain film analysis and differential diagnosis.

Neonatal abdominal plain films were prospectively analyzed over a 41-month period in order to generate a differential diagnosis for focal bowel distension during the first 6 weeks of life. A total of 31 examples of locally distended bowel were collected. The study discredits the concept that asymmetrically distended bowel in the newborn is usually caused by necrotizing enterocolitis (only 9/31 cases) and indicates that distended bowel in the lower abdomen or left upper quadrant is often caused by air trapping in normal but redundant rectosigmoid (11 cases) or in distal transverse colon (three cases). Five other pathologic conditions not normally specified in differential diagnoses of focally distended bowel included inguinal hernia (three cases), small bowel atresia (two cases), midgut volvulus (one case), Hirschsprung's disease (one case), and small left colon (one case). The study emphasizes the value of sequential supine and prone filming for distinguishing normal from pathologic dilated loops of bowel.

Aerophagy↗

Neonatal ultrasonography to distinguish between meconium ileus and ileal atresia.

Meconium ileus can be difficult to distinguish from ileal atresia on plain radiographs and on contrast enema. Both show a microcolon in the face of a small bowel obstruction. The treatment of the two is very different. Meconium ileus obstruction may be relieved medically by contrast enema; ileal atresia requires prompt surgical intervention. This study was made to determine if abdominal ultrasonography might be helpful in distinguishing between these two entities. Abdominal ultrasonograms from the past 10 years of all patients with these two diseases who were studied with preoperative ultrasonography at Arkansas Children's Hospital were reviewed. Six of 16 patients with meconium ileus had preoperative ultrasonograms. All six patients with meconium ileus had multiple loops of bowel filled with very echogenic thick meconium. Four of 22 patients with ileal atresia had preoperative ultrasonograms. These four patients with ileal atresia had dilated loops of bowel filled with fluid and air. None had a dilated bowel filled with thick echogenic contents. Preoperative abdominal ultrasonography is proposed as a simple method for distinguishing between these two disease entities with very different treatment plans.

Diagnosis, Differential↗

Agenesis of the dorsal mesentery without jejunoilial atresia ("apple peel small bowel").

Agenesis of the dorsal mesentery with apple peel or Christmas tree deformity but without small-bowel atresia can occur beyond the neonatal period. The recognition of this entity is imperative as it is also associated with a marginal artery which may be the only blood supply to the majority of small bowel. Preservation of this vessel is necessary to avoid catastrophic bowel death.

Child, Preschool↗

Necrotizing enterocolitis (ischemic enteropathy) with the sequel of colonic atresia.

Two cases of acquired colonic atresia subsequent to necrotizing enterocolitis (ischemic enteropathy) in the neonatal period are reported. These infants were noted to have complete atresia of the colon in the region of the splenic flexure 8 and 11 weeks after small bowel resection and ileostomy formation. Recognition of this and other late sequelae of ischemic enterocolitis becomes critical to the successful outcome of these patients as survival rates increase.

Colon↗

Necrotising enterocolitis in small bowel atresia.

A retrospective study of 76 infants with small bowel atresia treated in two neonatal surgical units between 1970 and 1979 is presented. The overall survival rate was 75% and there was no significant difference between the two centres. The mortality rose according to the number of atresias and the distance of the first atresia from the ileo-caecal valve. The 19 deaths were classified as inevitable or avoidable. Of the latter group, 5 out of 14 deaths were due to neonatal necrotising enterocolitis, and the remainder to respiratory problems associated with prematurity or to surgical complications producing peritonitis and septicaemia.

England↗

Mucosal proctectomy and colo-anal anastomosis as treatment of rectal atresia.

Rectal atresia is a rare condition in which the anus and sphincter muscles are normally developed. Therefore it seems logical to preserve those structures unaltered during surgical therapy. Mucosal proctectomy and colo-anal anastomosis is a safe, technically well known technique that achieves this goal.

Anal Canal↗

Calcified meconium in the newborn.

Six neonates are described in whom plain films of the abdomen demonstrated scattered flecks of calcification. Three of the patients had rectal atresia with recto-urethral fistula, one rectal atresia without fistula, one jejunal atresia and one a severe stenosis of the distal small bowel associated with log segment aganglionosis. At operation the calcification was found to be in meconium within the bowel lumen and not as expected to represent serosal plaques following meconium peritonitis due to an intrauterine bowel perforation. Previous case reports are reviewed and possible mechanism discussed.

Calcinosis↗

Meconium pseudocyst secondary to ileal atresia complicated by volvulus: antenatal MR demonstration.

We report a case of meconium pseudocyst evaluated by prenatal MR imaging. The unusual features were its huge size, the absence of meconium peritonitis, and its development late in fetal life. The case also demonstrates a possible diagnostic pitfall since it suggests that rapid deterioration of a mechanically compensated bowel obstruction may occur, potentially occurring only after an MRI study has been performed.

Adult↗

[Apple-peel jejunal atresia. Nutritional management].

Apple-peel jejunal atresia is a rare digestive tract congenital defect often accompanied with a short gut. Two cases managed by a three-stage medical and surgical approach are reported. A protein hydrolysate-jejunal secretion mixture was drip-fed through the distal ileostomy to stimulate trophicity of the distal gut.

Enteral Nutrition↗

Intrauterine intussusception and ileal atresia presenting as acute perforation.

A case is reported of a girl born by caesarean section at 28 weeks gestation who developed an acute perforation of the ileum due to intussuspetion 11 days after birth. This was treated successfully by resection of the affected segment of ileum and by performing a temporary ileostomy followed by end-to-end anastomosis. She made a complete recovery. This case also demonstrates the difficulty of early diagnosis of intussusception in the neonatal period.

Female↗

Malrotation - the ubiquitous anomaly.

Although anomalies of rotation and fixation of the gastrointestinal tract are recognized to be associated frequently with anomalies of the abdominal wall and diaphragmatic hernia, the frequency with which these common anomalies are associated with other congenital and acquired lesions of the gastrointestinal tract has not been sufficiently emphasized. Sixty-two percent of our series of 34 patients were associated with such lesions as upper gastrointestinal atresias and stenoses, intussusception, and Hirschsprung's disease. The embryologic and anatomic features of rotational anomalies, their clinical presentation, and radiologic features are presented with the suggestion that knowledge of this information, along with the appreciation of the frequent association of malrotation with other common congenital and acquired abnormalities, will help to prevent the devastating morbidity and mortality of undiagnosed midgut volvulus.

Abnormalities, Multiple↗

Neonatal short bowel syndrome.

In this retrospective study the management of infants who had undergone resection of more than 50% of the small bowel as newborn infants between 1970 and 1988 was analyzed to define prognostic factors. Small bowel resections were performed for atresia (36 cases), volvulus (22 cases), gastroschisis (10 cases), necrotizing enterocolitis (11 cases), and other disorders (8 cases). Patients were classified into two groups depending on the length of residual small bowel: group 1 (n = 35) had less than 40 cm of small bowel and group 2 (n = 51) had 40 to 80 cm of residual small bowel. Patients in group 2 had significantly better survival rates than those in group 1 (92.0% vs 66.6%; p less than 0.001). The patients in group 1 who were born after 1980, when home parenteral nutrition was introduced, had better survival rates than those who were treated before 1980 (95.0% vs 65.0%; p less than 0.01). The time required for acquisition of intestinal adaptation depended on the intestinal length (average, 27.3 months for group 1 and 14 months for group 2; p less than 0.01) and on the presence or absence of the ileocecal valve. Parenteral or supportive enteral nutrition, or both, ensured normal growth in both groups. We conclude that more than 90% of infants now survive after extensive small bowel resection with parenteral nutrition and that the remaining small intestine will adapt with time. Home-based parenteral nutrition allowed children to be treated in the best psychosocial environment.

Adaptation, Physiological↗

Obstetrical and neonatological aspects of a child with atresia of the small bowel.

A patient was admitted to the hospital in the 31st week of gestation because of reduced sensation of fetal movements and a pathologic fetal heart rate tracing (Fig. 1). At first no underlying pathology could be found. After a week she developed a polyhydramnios. After repeated ultrasonographic examinations an atresia of the fetal small bowel was suspected (Fig. 2). The diagnosis could be confirmed after birth and on the same day the child was operated on. An atresia of the ileum was found. After liberal resection of the atretic part, recovery was complete. The malformation has an incidence of 1: 12,500-20,000. The etiology is thought to be a temporary or definite obstruction of a mesenterial artery branch, supplying the small bowel of the fetus. It develops after organogenesis and could be caused by kinking of an artery during rotation, an embolus, amniocentesis, volvulus, intussusception or snaring at the umbilical ring. Polyhydramnios is the first symptom in about one third of the cases. Diagnosis can be confirmed by fetography or ultrasonography. The latter is preferred because of its non-invasivity. In amniotic fluid, high levels of bile salts (up to thirty times the normal level) have been described in combination with atresia of the small bowel. A diminished disacharidase activity is also ascribed to it. Most of the time the diagnosis is suspected after birth on the basis symptoms such as a gastric aspirate of more than 25 cc, bile vomiting within a few hours, absence of meconium stool or distension of the abdomen. It can be confirmed by X-ray examination.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

Elliptical seromuscular resection for tapering the proximal dilated bowel in duodenal or jejunal atresia.

The authors developed a surgical technique to taper the proximal dilated bowel in patients with duodenal or jejunal atresia. An appropriately wide elliptical piece of the seromuscular layer along the antimesenteric border is resected, with its underlying submucosa and mucosa kept intact. The muscular margins are approximated by sutures, with the mucosa either inverted or imbricated into the bowel lumen. This technique has the advantage of avoiding infection, leakage, or protrusion of thick bowel wall into the bowel lumen, which may produce a motility disorder.

Child, Preschool↗

Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk.

We reviewed 225 cases of amyoplasia, and the association of amyoplasia with gastroschisis and with monozygotic twinning was confirmed. In addition, an apparently increased association of bowel atresia and defects in the muscular layer of the trunk wall with amyoplasia was observed. The association of amyoplasia, monozygotic twinning, and these trunk wall defects strongly suggests that the pathogenesis of amyoplasia is linked to some type of vascular compromise.

Abdominal Muscles↗