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A syndrome of multiple gastrointestinal atresias with intraluminal calcification. A report of a case and a review of the literature.

An infant with multiple gastrointestinal atresias from the stomach to the rectum is reported and the literature concerning this syndrome is reviewed. The syndrome has been reported, to date, exclusively in infants born to families with a French-Canadian background. The radiological hallmark of this syndrome is extensive calcification of intraluminal content between the areas of atresia which appears as rounded or oval homogeneous radiopacities on abdominal radiographs. Inheritance is thought to be autosomal recessive and the etiology is uncertain. All previously reported cases have died. The significance of biliary gas, seen in postoperative films, is discussed.

Adult

The current practice of paediatric surgery in Malaysia.

This 10-year review of surgical conditions in infants at the University Hospital, Kuala Lumpur, highlights some of the more common problems encountered and outlines their management. Anorectal agenesis and Hirschsprung's disease were seen relatively more frequently than other anomalies of the gastrointestinal tract. The management of these two conditions and the operation of colostomy and its complications are singled out and presented in some detail.

Anal Canal

[Current concepts on gastroschisis].

Present day concepts about history, etiology, embriology, and management of gastroschisis are reviewed and a case is reported; it was treated in two surgical steps. A silastic net was applied and the intestinal loops were gradually introduced until the abdominal defect closed completely. Parenteral feeding was also given.

Abdominal Muscles

Major congenital malformations in neonates at U.T.H. Lusaka Zambia.

The incidence of major congenital malformations in U.T.H., Lusaka during 1976 is reported. The incidence of some common major malformations are compared with the other series. Central nervous system and Alimentry system malformations were most frequent. The relative low incidence of anencephaly and cleft lip and palate in African newborns is confirmed.

Abnormalities, Multiple

Ultrasound in the diagnosis of congenital anomalies.

With high-resolution ultrasound equipment, it is now possible to diagnose certain fetal anomalies in the third trimester and in some cases before the twentieth week of gestation. During a 27 month period 2,548 ultrasound scans were performed in high-risk patients. An anomaly was diagnosed in 10 of 122 second-trimester patients who were at risk for recurrent fetal defects. Fetal deformity was also found in 26 third-trimester patients. Of the 2.8% of patients found to have polyhydramnios 18% were associated with various types of anomaly. With ultrasound it was possible to examine internal fetal anatomy and to identify abnormalities of the fetal cranium, spine, chest, abdomen, and limbs. These anomalies are reviewed here in detail. Based on ultrasonically derived information, second-trimester patients can be offered information concerning the status of their fetuses at risk genetically and physicians can better manage third-trimester patients with diagnosed fetal deformities.

Amniotic Fluid

[The level of alpha-feto protein in amniotic liquor. The antenatal diagnosis of some malformations (author's transl)].

We have measured the levels of alpha-feto protein in 127 samples of amniotic fluid, obtained in the course of antenata diagnosis, using the immunoelectrophoretic method of Laurell. The mean, the upper limit of normal and the extreme levels of alpha-feto protein in liquor have been calculated for each gestational age. The difficulties which have been met with in interpreting the results (false positives and false negatives) have been discussed.

Amniotic Fluid

Congenital abnormalities in newborns of consanguineous and nonconsanguineous parents.

The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

Abnormalities, Multiple

Congenital defects of the gastrointestinal tract and abdominal wall. A three-year review.

One hundred forty-four infants with anomalies of the gastrointestinal tract and abdominal wall were treated at Children's Memorial Hospital between July 1970 and July 1973. The overall mortality, including unoperated infants and those dying from other causes up to six months later, was 17%. Associated defects, particularly of the heart and CNS, were the most common causes for death. Many infants were premature; however, this factor alone did not contribute to mortality. Differences in surgical technique did not affect mortality in patients with esophageal atresia, but one baby with total aganglionosis of his colon and two with gastroschisis may have survived with different modes of therapy. Although previous advances in pediatric surgery contributed to the overall good results in these infants, parenteral alimentation emerged as the single most important factor in improved survival during this study period.

Abdominal Muscles

Gastrointestinal anomalies associated with esophageal atresia or tracheoesophageal fistula.

A retrospective analysis of 150 consecutive patients with esophageal atresia and/or tracheoesophageal fistula was undertaken. The incidence and variety of gastrointestinal (GI) anomalies, the method of management, and the cause of death were critically reviewed to outline preferred methods of management. Of these patients, 87 were male and 63 female. There were 62 GI anomalies in 40 patients. The most common GI anomalies included anorectal anomalies in 17 patients, malrotation of the midgut in 13 patients, duodenal atresia or stenosis in ten patients, and annular pancreas and ectopic pancreatic tissue in three patients each. Six patients had the combination of tracheoesophageal fistula, duodenal obstruction, and anorectal anomaly. Of the 150 patients, 23 have died, with 15 deaths occurring in those with associated GI anomalies. The GI anomalies contributed directly to the deaths of five of these 15 patients. Delay in diagnosis and, on occasion, improper initial management resulted in increased morbidity and mortality.

Abnormalities, Multiple

Congenital diaphragmatic hernia (Bochdaleck) with special reference to the prognostic influence of congenital cardiac and gastro-intestinal anomalies.

Of 29 patients with hernia Bochdaleck there were 11 in the non surgical group and 18 in the surgical group. 14 were operated in the first 24 hours of life, and 4 patients after that time. No patients in the non-surgical group survived. In patients who were operated upon in the first 24 hours of life, 5 survived, and after that time 3. In all cases the transthoracic approach was used. The investigation did not permit any safe judgement of the preoperative treatment. On these conditions multiple anomalies combined with prematurity and intrauterine asphyxia had some influence on, whether a patient lived so long, that an operation could take place. Gastro-intestinal anomalies had a certain prognostic significance in the postoperative period. In cured patients the severity of a complicating cardiac failure could be of some importance.

Abnormalities, Multiple

alpha-Fetoprotein levels in pregnancies complicated by gastrointestinal abnormalities of the fetus.

alpha-Fetoprotein (AFP) levels have been measured in maternal serum and amniotic fluid in a variety of gastrointestinal abnormalities of the fetus. Maternal serum AFP levels were consistently elevated in abdominal wall defects of the fetus after 15 weeks gestation and the amniotic fluid levels were raised in 3 of the 4 patients measured. In atresia of the gastrointestinal tract and diaphragmatic hernia, serum AFP levels were usually normal unless there was an associated neural tube defect or multiple pregnancy, although the majority were not measured between 15 and 26 weeks gestation. If elevated amniotic fluid levels of AFP are used in the decision to terminate pregnancy on the assumption of a probable neural tube defect of the fetus, a proportion of terminations will be performed because of abdominal wall defects of the fetus.

Abdominal Muscles