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

Glandular inclusions in inguinal hernia sacs are not frequent. We present six cases of inguinal hernia with this finding, which represents an incidence of 2.6% in males and shows a predominance in the prepubertal stage. Five patients showed cryptorchidism and two cases were related to congenital malformations of the single umbilical artery type and 47,XY chromosome disorder with chromosomal marker. The most important differential diagnosis must be made with normal histological structures such as the vas deferens or epididymis. The mean diameter of the inclusions was 0.1988 mm and there was a significant difference in size between the inclusions and the vas deferens, but not the epididymis. Differentiation from the latter is based on the absence of a well-developed muscular coat in the wall of the inclusions. It is important to recognize that these inclusions can occur in hernia sacs because of the clinical and medicolegal implications that arise if they are confused with true epididymis or vas deferens. They may arise from paratesticular embryonal remnants.
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PMID:Glandular inclusions in inguinal hernia sacs: a clinicopathological study of six cases. 785 6

We present a retrospective study of the frequency and type of associated malformations and chromosomal anomalies in 42 consecutive cases of congenital diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985 to 1999. In 26% (11/42) of the cases, associated malformations were detected. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 cases (15/42 = 36%) with associated malformations or chromosomal anomalies, all cases, except one, had prenatal sonographic evidence of additional problems. The survival rate of fetuses with CDH and associated malformations or chromosomal anomalies was poor (1/15). Therefore, the overall survival rate of in utero-diagnosed CDH was only 31% (13/42), while isolated left CDH had a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a detailed echographic examination to exclude additional anomalies. The risk for a syndromal or chromosomal malformation becomes small when no additional anomalies are seen on ultrasound.
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PMID:Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia. 1174 6

In a 4-year period, 83 fetuses have been noted to have an abnormal fetal heart position within the thorax on fetal echocardiography. In 55 cases where the heart lay in the right chest, this was due to the presence of a left-sided diaphragmatic hernia; in one case, the heart was abnormally far into the left chest because of a left-sided diaphragmatic hernia. Of the remaining 27 cases, the heart lay in the right chest in 16 cases. In seven of those 16, there was a congenital heart malformation; in six, there were lung anomalies; a hiatus hernia was present in one; both congenital heart disease and lung abnormality were present in one and one fetus had isolated dextrocardia. In nine cases, the heart lay in the center of the chest and in three, the heart lay further to the left than normal. Congenital heart disease was found in nine of these 12. Chromosomal anomalies were found in four of the 27 cases with an abnormal heart position but an intact diaphragm. In summary, it is important to be familiar with the normal cardiac orientation within the thorax and to investigate abnormalities of position. A diaphragmatic hernia will be the most common underlying cause but, where the diaphragm is intact, other explanations must be sought in order to counsel correctly or plan appropriate perinatal management. Lung disorders, congenital heart disease and chromosomal anomalies will be the principal differential diagnoses.
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PMID:Intrathoracic cardiac position in the fetus. 1279 99

Congenital diaphragmatic hernia (CDH) has an incidence of around 1/3000 births. Chromosomal anomalies constitute an important etiology for non-isolated CDH, and may participate to the identification of candidate genes for diaphragm development. We report on a microduplication identified by array-CGH (comparative genomic hybridization) including five contiguous genes (OPHN1, YIPF6, STARD8, EFNB1 and PJA1) and arising de novo in a male presenting a congenital diaphragmatic hernia (CDH). Our case is the second report of EFNB1 duplication associated with CDH in a male patient, supporting its implication sensitive to gene dosage in diaphragm development.
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PMID:Xq12q13.1 microduplication encompassing the EFNB1 gene in a boy with congenital diaphragmatic hernia. 2178 85