Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A fetus of 20 to 21 weeks of development with the trisomy 18 syndrome has been described. In addition to the phenotypic manifestations usually associated with the syndrome, i.e., low set ears, short neck, omphalocoele, flexion of fingers with the convergence of the second and fifth digits, rocker bottom feet, urinary tract anomalies and intrauterine growth retardation, the fetus also showed left diaphragmatic hernia. Anencephaly and aplasia of the squamous part of occipital bone. Since anencephaly has never been described as one of the phenotypic manifestations of trisomy 18, it is reasonable to assume that in the present fetus it is unrelated and resulted from secondary destruction of the neural tube.
 ...
PMID:Anencephaly in trisomy 18: related or unrelated? 88 20

A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes.
 ...
PMID:Diaphragmatic hernia in the south-west of England. 95 74

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling.
 ...
PMID:Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study. 148 14

Intestinal malrotation may be complicated by volvulus and intestinal necrosis. One hundred two children (64 male, 38 female) undergoing surgical abdominal exploration from 1977 to 1987 had malrotation. Fifty-two patients were less than 7 days of age, 13 from 8 to 30 days, 26 from 31 to 365 days, and 11 were older than 1 year of age. Of infants, 39 of 65 had 40-week gestations, 18 of 65 had 36- to 39-week gestations, and 8 of 65 had less than 36-week gestations. Chief symptomatology included: bilious emesis (47), intestinal obstruction (19), abdominal pain (11), and bloody stools (7). Seventy patients had congenital anomalies (50 single, 20 multiple). Diagnostic evaluations included 56 upper gastrointestinal series and 27 barium enemas. Each patient underwent correction of malrotation and appendectomy, and correction of congenital anomalies (omphalocele-9, gastroschisis-6, diaphragmatic hernia-7). Complications included short gut (2), sepsis (5), feeding difficulties (2), pneumonia (3), small bowel obstruction (2), and other (15). Nine patients (8.8%) died (trisomy 18-1, trisomy 13-1, intestinal necrosis-3, hepatic failure-1, prematurity-1, other sepsis-2). Two hundred sixteen children with intestinal malrotation have been treated from 1937 to 1987. Mortality rate has improved from 23% to 2.9%.
 ...
PMID:Malrotation of the intestine in children. 154 4

Twenty-six consecutive fetuses with a sonographically detectable omphalocele and known karyotype were reviewed to identify risk factors that might be associated with chromosomal abnormalities. Risk factors that were analyzed included contents of the omphalocele sac, maternal age, fetal sex, sonographically detectable concurrent anomalies, and any major concurrent anomaly. Chromosomal abnormalities were found in 10 cases (38%) from trisomy 18 (n = 4), trisomy 13 (n = 4), trisomy 21 (n = 1), or 45, X (n = 1). The absence of liver from the omphalocele sac (intracorporeal liver) was strongly associated with an abnormal karyotype; chromosomal abnormalities were present in all 8 fetuses with an intracorporeal liver compared to 2 of 18 fetuses with an extracorporeal liver (p less than .0001, two-tailed Fisher exact test). Other risk factors that were statistically associated with chromosomal abnormalities included advanced maternal age (greater than or equal to 33 years, p = .03) and sonographically detectable concurrent malformations (p = .05). We conclude that sonographic findings can help determine the relative risk of chromosomal abnormalities in fetuses with omphalocele; abnormal karyotypes were significantly associated with the absence of liver from the omphalocele sac and sonographically detectable concurrent malformations in this series. Sonographers should also be aware that omphaloceles that contain bowel alone tend to be small and can be missed or mistaken for other abdominal wall defects (gastroschisis or umbilical hernia).
 ...
PMID:Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. 266 55

Nine fetuses having trisomy 13 and 15 fetuses with trisomy 18 were diagnosed by cytogenetic studies and also underwent a sonogram between 15 and 40 weeks. All nine fetuses with trisomy 13 had been prospectively identified as having sonographic findings suggestive of trisomy 13. Twelve of the 15 fetuses with trisomy 18 had sonographic abnormalities compatible with trisomy 18. Findings included abnormalities of the face and head, extremities, and diaphragmatic hernia. This report examines criteria for the ultrasound diagnosis of trisomies 13 and 18 and describes the accuracy of prenatal sonography for these diagnoses.
 ...
PMID:Sonographic detection of fetuses with trisomies 13 and 18: accuracy and limitations. 327 33

A case control study on the association between maternal epilepsy, anticonvulsants use during pregnancy and birth defects was carried out in the Italian Multicentric Registry of Birth Defects (IPIMC). In the period 1980-1983, 7,607 malformed babies out of 439,717 total births (still + live) were registered. Fourty-one malformed babies with maternal epilepsy were identified (5.39 X 1,000). The overall relative risk of having a malformed baby among pregnant epileptic women was 1.87. Spina Bifida, Congenital Heart Defects, Clefts, Diaphragmatic Hernia and Trisomy 18 were more frequent than expected among babies with maternal epilepsy. The different therapeutic regimens were also tested to identify the possible independent teratogenic effect of anticonvulsants. A statistically significant association between Spina Bifida and Valproic Acid (odds ratio 22.7; Fisher p value = 0.0364) was observed: no other anticonvulsant tested showed any association with any type of malformation.
 ...
PMID:Maternal epilepsy and birth defects: a case-control study in the Italian Multicentric Registry of Birth Defects (IPIMC). 393 91

In order to determine the frequency of associated malformations and chromosomal defects in patients with congenital diaphragmatic hernia (CDH) our experiences with CDH during the last 8 years (1985-1993) were reviewed. During the study period, 33 fetuses (prenatal group) with CDH were examined at our level III ultrasound department. In the same period 11 neonates (postnatal group) were admitted to our pediatric surgical unit after postnatal diagnosis of a CDH. Those cases had not been suspicious for CDH during prenatal level I scan. In 24 (72.7%) of the cases with CDH seen prenatally, at least one or more extradiaphragmatic malformations could be detected. Most of them affected the cardiovascular, skeletal, genitourinary and nervous system. Six (18.1%) fetuses had chromosomal abnormalities, especially trisomy 18. In contrast to these findings just 4 of the 11 babies (36.3%) seen postnatally had associated malformations and all of them had a normal chromosome set. Survival rate of fetuses with CDH and associated anomalies (7.1%) was poor, in contrast to those with an isolated CDH (43.7%). Prenatal ultrasound investigations being suspect for CDH should encourage the clinician to make further diagnostical efforts. This includes detailed ultrasound examination and cytogenetic analysis. Associated malformations as well as chromosomal defects are often present in affected patients.
 ...
PMID:Associated malformations and chromosomal defects in congenital diaphragmatic hernia. 771 Jun 80

Clara cell protein (CC16) is a 16-kD protein secreted at the surface of respiratory airways by nonciliated bronchial and bronchiolar cells, including Clara cells. Using the same immunoassay as that recently developed for CC16 in lung lavage, we have measured CC16 in amniotic fluid samples from 100 normal fetuses and 51 fetuses with various pathologies. Ouchterlony immunodiffusion analysis showed a complete identity between CC16 in amniotic fluid and the protein in lung lavages of adults. CC16 was detectable in amniotic fluid from about the 15th wk of pregnancy, then progressively increased until delivery, with a tendency to reach a plateau after the 30th wk. Between the 15th and the 39th wk of pregnancy, the concentration of CC16 in amniotic fluid increased on average 25 times. The sex of the fetus did not influence the concentration of CC16 in amniotic fluid. Compared with expected values, levels of CC16 in amniotic fluid were on average not significantly altered in cases of spina bifida (n = 9), anencephaly (n = 7), and trisomy 21 (n = 6). In contrast, CC16 was on average significantly decreased in cases of diaphragmatic hernia (n = 6), trisomy 18 (n = 14), Turner syndrome (n = 4), and diabetic pregnancy (n = 5). In cases of diaphragmatic hernia, a relation emerged between the concentration of CC16 in amniotic fluid and both the weight of the lungs and the survivorship of the fetuses. The time course of CC16 in amniotic fluid during normal pregnancy and its reduction in pathologies associated with lung hypoplasia suggest that CC16 in amniotic fluid might serve as a marker of bronchial epithelium growth.
 ...
PMID:Clara cell protein in human amniotic fluid: a potential marker of fetal lung growth. 789 86

Over a 3 year period 37 pregnancies were complicated by a chromosomal abnormality. In the two cases of trisomy 13, holoprosencephaly, facial clefting, polydactyly and growth retardation were seen. In the seven cases of trisomy 18, abnormalities of the extremities, face and heart were common. Growth retardation and diaphragmatic hernia were also demonstrated. In the 21 cases of Down's syndrome the main abnormalities were cardiac, duodenal atresia and subtle digital anomalies. The two fetuses with triploidy showed a large hydropic placenta and holoprosencephaly respectively, and all five cases of Turner's syndrome demonstrated a cystic hygroma two of which were associated with hydrops. From the antenatal scans major anomalies were detected in 18 fetuses, however, chromosomal disease was suspected in only 15 cases. This was in part owing to a high false negative rate for cardiac anomalies (14 cases) in both routine and detailed scans. Owing to the diversity of anomalies present in chromosomal disease full assessment of the fetus is recommended with particular attention to the fetal heart, face, hands and feet. Specific anomalies are suggested for karyotype.
 ...
PMID:The ultrasound markers of chromosomal disease: a retrospective study. 831 61


1 2 Next >>