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Results for “Digestive System Abnormalities”

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At least 667 records · Page 37Linked to original sources
PubMed1997

Bronchopulmonary-foregut malformations: a continuum of paracrine hamartomas?

The bronchopulmonary-foregut malformations (BPFM) are usually sporadic, solitary cystic hamartomas involving conducting airways, arteries, venous drainage, and lung parenchyma. Transitional, compound hamartomas exist, and only their morphology is well-known. Between 1984-1994 we encountered and studied 10 unrelated patients and a stillborn infant with BPFM (out of 24,000 families). Ten were diagnosed in utero and one at birth as having congenital cystic adenomatoid malformation of the lung (CCAML). Postnatally, two diagnoses (20%) were corrected to bronchogenic cyst (BC) and diaphragmatic hernia, respectively. Bilateral lung involvement was present in 1 patient, and in 2 there was a considerable macroscopic regression of the hamartoma. Histologic studies of the six resected CCAML confirmed the diagnosis and implied dysregulated paracrine growth with its cellular and extracellular growth factors, protooncogenes, oncogenes, cytokines, cell-adhesive molecules, and receptors of these regulatory peptides, and their complex interactions as developmental morphogens in time and space.

Digestive System↗
PubMed1999

Malrotation in conjunction with esophageal atresia/tracheo-esophageal fistula.

Esophageal atresia or tracheo-esophageal fistula (EA/TEF) often occurs in association with a well-defined group of other anomalies. We report the prevalence of malrotation and other intestinal anomalies in a large data series comprising 632 nontrisomic infants with EA/TEF ascertained by the California Birth Defects Monitoring Program from January 1, 1983 to December 31, 1994. Consistent with findings reported previously in smaller case series, our findings showed a notable prevalence of imperforate anus (9.0%) and duodenal atresia (5.2%), among other gastrointestinal defects. They also showed a previously unrecognized high prevalence of intestinal malrotation (4.4%). Compared with other infants studied, the infants with EA/TEF and malrotation of the intestine had a higher proportion of other associated anomalies (in particular intestinal, central nervous system, vertebral and rib, renal and genital anomalies). These findings indicate that intestinal malrotation is more common in infants with EA/TEF than is generally perceived, and that intestinal malrotation in an infant with EA/TEF is associated with a higher burden of additional congenital anomalies, suggesting that this group of infants may have more pervasive developmental deficits and poorer prognosis than has previously been recognized.

Digestive System Abnormalities↗
PubMed2000

Color Doppler sonography in the diagnosis of neonatal intrahepatic portosystemic shunts.

Intrahepatic portosystemic shunts are infrequent in children. We report 3 cases of neonates who presented with jaundice during the first month of life. Color Doppler sonography in the first 2 cases showed direct communication between the right portal and hepatic veins. Both infants were asymptomatic, and the shunts disappeared spontaneously. The third case involved several shunts and an aberrant medial portal vein. This patient developed heart failure and died after surgery. Color Doppler sonography was useful in the diagnosis and follow-up of the shunts in all 3 cases.

Digestive System Abnormalities↗
PubMed2000

Intrahepatic spontaneous portosystemic venous shunt: value of color and power Doppler sonography.

Spontaneous portosystemic venous shunts (SPVSs) within the hepatic parenchyma are rare. Fewer than 50 cases have been reported, and most of them were diagnosed by angiography. We present a case of SPVS diagnosed by color Doppler sonography in a 5-year-old boy admitted for bleeding due to rupture of esophageal varices. Conventional color and power Doppler sonography as well as CT showed a large shunt between the posterior branch of the right portal vein and the inferior vena cava. We believe that accurate diagnosis and follow-up of SPVS can be done with color Doppler sonography without resorting to angiography.

Child, Preschool↗
PubMed1998

Maternal serum alpha-fetoprotein in fetal anal atresia and other gastro-intestinal obstructions.

The fetal gastro-intestinal (GI) tract contributes to alpha-fetoprotein (AFP) levels in amniotic fluid and hence to those in maternal serum (MS). This study retrospectively analysed results of second trimester MSAFP screening in cases of fetal GI tract obstruction. 18 cases of fetal GI obstruction were diagnosed amongst 17,036 women who underwent MSAFP screening between 1979 and 1997: seven had oesophageal atresia, four had duodenal atresia, six had anal atresia, and one had both anal and oesophageal atresia. MSAFP in pregnancies of a fetus with anal atresia was significantly lower than the population median. MSAFP in cases of fetal oesophageal or duodenal atresia was low but these differences did not reach significance.

Anus, Imperforate↗
PubMed1999

Ultrasound measurements of the diameter of the fetal trachea, larynx and pharynx throughout gestation applicability to prenatal diagnosis of obstructive anomalies of the upper respiratory-digestive tract.

The purpose of the present study was to obtain normative data for the fetal upper respiratory tract by using high-resolution ultrasound techniques. Furthermore, we wanted to test the potential utility of the resulting normograms in diagnosing obstructive lesions of the trachea and oesophagus. Sonographic measurements of the diameters of the trachea, larynx and pharynx were obtained at well-defined planes from a prospective cross-sectional sample of 198 normal patients of known gestational age between 15 and 40 weeks' gestation. All measurements were performed during fetal apnea and in the absence of swallowing. The same measurements were also obtained from two cases with laryngeal atresia and three cases with oesophageal atresia, all of which were diagnosed prenatally. The data obtained were plotted on the constructed normograms. In normal fetuses approximately linear relationships existed between tracheal, laryngeal and pharyngeal diameter, on the one hand, and gestational age, on the other, with the measurements correlating significantly (p<0.0001) with gestational age. The linear regression coefficients (r2) for the tracheal, laryngeal and pharyngeal diameters were 0.66, 0.55 and 0.32, respectively. The 95 per cent prediction limits were also calculated. In fetuses with laryngeal atresia only the tracheal diameter was significantly higher as compared with that of normal fetuses. Data of the fetuses with oesophageal atresia showed that there were no changes in the upper airway anatomy. Our study provides normative data for the upper respiratory tract. In the prenatal diagnosis of obstructive neck anomalies the usefulness of the data would seem to be limited to those affecting the respiratory tract. Among the structures measured, only the trachea may prove to be of clinical significance.

Cross-Sectional Studies↗
PubMed2000

Correlation of prenatal clinical findings with those observed in fetal autopsies: pathological approach.

Our objective was to present a comprehensive description of the clinicopathological findings of 173 abortions, including 121 therapeutic and 52 spontaneous ones in the period between 1992 and 1998. In all of these fetuses pathological examination was carried out. It was complemented when indicated by immunohistochemistry, in situ hybridization, flow cytometry, and X-ray examination. In the 121 therapeutic abortions the distribution of malformations was: 45 central nervous system anomalies (37%), 12 genitourinary anomalies (10%), 25 gastrointestinal anomalies (21%), two respiratory system anomalies (1.65%), eight cardiac anomalies (6.6%) and 28 other anomalies (17.2%) as revealed by autopsy. From the clinically selected 52 spontaneous abortions, major malformations were seen in 15/52 cases. With the comparison of the pathological and clinical findings in 121 therapeutic abortions, the percentage of cases with correct clinical designation and no missed anomalies amounted for 49%. However in 51% additional or different lethal, severe, or major malformations were revealed or excluded by fetopathological examinations. In 4% the clinical observation and diagnosis were modified, but without implications for the therapeutic termination of pregnancy. The clinical indication could not be supported in another 3% of the cases.

Abortion, Spontaneous↗
PubMed2002

Molecular etiology of gut malformations and diseases.

This review describes recent advances using animal models in the analysis of the molecular controls of gastrointestinal development, with specific attention to mutations causing maldevelopment similar to those seen in human gut malformations. By focusing on specific human gut pathologic conditions and maldevelopment, we describe the probable roles of signaling pathways, including the hedgehog pathway, the bone morphogenic protein pathway, and the role of the homeotic genes.

Animals↗
PubMed1990

Multiple gastrointestinal atresias with imperforate anus: pathology and pathogenesis.

The syndrome of hereditary multiple gastrointestinal atresias is characterized by multiple and widespread atresias from pylorus to rectum, intraluminal calcifications on plain abdominal roentgenogram, and an invariably fatal course with an autosomal recessive mode of inheritance. We review 18 cases reported in the literature and one additional case in an infant with imperforate anus. The anatomical and histological characteristics of the atresias suggest a failure of recanalization of the embryonic intestinal lumen. The association between multiple atresias and imperforate anus supports the hypothesis that this disorder is a malformation syndrome caused by a defect in the development of the gastrointestinal tract.

Anal Canal↗