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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In two unrelated families, there was familial occurrence of gastroschisis. In one family, a boy and girl were affected and there was a family history of stillbirth, abortion, prematurity, and esophageal obstruction. In the second family, two boys were affected and there was a family history of spontaneous abortion, inguinal hernia, and umbilical hernia. The recurrence of gastroschisis, generally considered a sporadic congenital effect, suggests that the condition may be genetic in nature. Furthermore, the pedigree of one of the families suggests that gastroschisis may be a severe expression of umbilical hernia or other abdominal wall defects. Autosomal dominant inheritance with variable expressivity or multifactorial inheritance may explain the occurrence of gastroschisis in the two families. Thus, a family history of abdominal wall defects may increase the risk for gastroschisis.
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PMID:Familial occurrence of gastroschisis. Four new cases and review of the literature. 15 96

Definitions are offered for the concepts of sterility and infertility. The notion of infertility is expanded to cover not only habitual abortions (three or more miscarriages) but, as well, deliveries of defective children. --Five-hundred and fifty-five pregnancies so far have occurred to 240 infertile probands, among them 78 with habitual abortions and 162 with damaged children. Only one in ten of those pregnancies resulted in clinically intact live birth. --Abortion was the result of 95 per cent of all pregnancies of the women with habitual abortion. The same applied to 25 per cent of all pregnancies of the above women with defective children (e.g. Down's syndrome, neural tube defects, diaphragmatic hernia, hydrocephalus, and progressive muscular dystrophy). A damaged child was born in more than 50 per cent of the latter pregnancy cases. --The number of children born by 162 women has been 181, with only 96 of them alive. The causality relationship between abortion and birth of defective children is discussed. --Infertile women should be given special attention, before conception takes place, and they should be kept under intensive care to the end of pregnancy.
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PMID:[Infertility--a risk factor in obstetrics (author's transl)]. 53 55

The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.
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PMID:Acrocallosal syndrome in a girl born to consanguineous parents. 272 48

The aim of this study is to be able to perform on the animal (Macacus cynomolgus) a specific in utero surgical procedure for correcting congenital diaphragmatic hernia, in order to do the same on human fetuses. The surgical technique consist in operating in utero, and to put a silastic patch on the diaphragm. A good tocolysis is very necessary to prevent early abortion. Finally the fetuses' surviving is the main problem.
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PMID:[In utero surgery of diaphragmatic hernia in Macaca fascicularis]. 362 87

Ethylene glycol alkyl ethers are frequently used in industry, and accidents due to them occur. Impaired hematopoietic function and genital injury in animal experiments have been reported. Of various alkyl radicals, those with a methyl radical strongly injure them. Ethylene glycol dimethyl ether (EGDME) was administered to pregnant mice on the 7th, 8th, 9th, and 10th days of pregnancy, which is the early stage of organ formation, for examination of its effect on feti, with special reference to the presence or absence of teratogenicity. Of 97 female mice mated and sampled, 490 mg/kg of EGDME was administered to 28 as Group A, 350 mg/kg to 23 as Group B, and 250 mg/kg to 23 as Group C. Only distilled water was given to 23 mice as a control group. 1. The mother mice showed no noteworthy ecological changes after conception in any group, but showed uneventful weight gain. No weight loss or abortion due to EGDME was observed in the experimental groups. 2. As a result of the oral administration of EGDME to pregnant mice, 20% of feti died in Group A, 13.1% in Group B, and 12.6% in Group C, the fetal mortality rate increasing with increasing dosage. 3. Surface deformity was observed in 19.2% in Group A, 5.1% in Group B, and 0.3% in Group C, the rate of deformity being high in large-dose groups. External brain was most frequent, and palpebral patency, caudal defect, peritoneal hernia, and cleft palate were observed in a small number of mice each. 4. As skeletal deformity, defect of the parietal bone was observed in the mice with external brain, but no other cranial abnormality was observed. Abnormalities of cervical vertebrae appeared in 45.9% in Group A, 33.6% in Group B, and 14.6% in Group C. Costal fusion occurred in 71.2% in Group A, 54.3% in Group B, and 21.5% in Group C.
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PMID:[The teratogenic effects of ethylene glycol dimethyl ether on mouse (author's transl)]. 719 15

The neural tube defects (anencephaly, encephalocele, spina bifida cystica), oral clefts (cleft lip +/- palate, posterior cleft palate), omphalocele, and diaphragmatic hernia associate with one another far more frequently than at the expected random combination rates. The combination of other abnormalities does not exceed the expected rate. Thus, two or more combinations of schisis-type abnormalities without other defects were treated as a provisional entity. The schisis-association is practically a lethal abnormality. It occurs more often in girls (sex ratio: 0.33), in twins (4.6%), in breech presentations (13.7%), in association with lower mean birth weight (1,931 gm), and in association with a shorter gestation period (36.4 weeks). Mothers of affected children have a significantly higher miscarriage rate; occurrence of schisis-type abnormalities was found in 3.7% of the sibs of index patients. However, except for one, the sib-occurrences of schisis abnormalities were isolated neural tube defects or oral clefts.
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PMID:Schisis-association. 729 60

Infants with congenital diaphragmatic hernia (CDH) die, because their lungs are hypoplastic and their pulmonary vascular resistance remains elevated after birth. In human newborns, it is difficult to appreciate the benefit of new therapeutic approaches, because the pathological findings are not uniform, the disease is rare and the clinical criteria for poor prognosis with conventional therapy are uncertain. To study the benefit of high-frequency ventilation (HFV) the use of Tolazoline in CDH, we created a diaphragmatic defect in sheep fetuses at 0.6 gestation and studied full-term newborns after a caesarian section. A sternotomy was performed to place catheters and flow probes on the aorta and pulmonary artery and to clamp the ductus arteriosus and the left pulmonary artery. Twins were used as control, and the CDH lambs were either ventilated with conventional ventilation (CV) or HFV. 23 ewes were operated upon with a 22% abortion rate and 31 newborn lambs (10 controls and 21 CDH) were studied. A complete gasometric and hemodynamic study was performed in 23 lambs (7 controls, 8 CDH with CV and 8 CDH with HFV). Clinical and pathological findings of the lambs with CDH were very similar to severe CDH in humans with bilateral lung hypoplasia, severe respiratory distress, high pulmonary vascular resistance and severe hypoxemia. HFV dramatically improved CO2 elimination, allowed less aggressive ventilation, and was associated with higher flows and lower systemic and pulmonary vascular resistance. However, HFV did not improve oxygenation leaving the newborn with severe hypoxemia associated with massive intrapulmonary foramen ovale shunting from right to left.
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PMID:High-frequency ventilation in newborn lambs after intra-uterine creation of diaphragmatic hernia. 835 13

Increased fetal nuchal translucency thickness at 10-14 weeks of gestation is a common phenotypic expression of fetal chromosomal defects, structural abnormalities and genetic syndromes. This study reports on the prevalence of structural abnormalities and genetic syndromes in 4116 chromosomally normal pregnancies with increased fetal nuchal translucency thickness and reviews the relevant literature. In fetuses with increased nuchal translucency thickness, the prevalence of major cardiac defects, diaphragmatic hernia, exomphalos, body stalk anomaly and fetal akinesia deformation sequence is substantially higher than expected in the general population. In addition, there may be an association between increased nuchal translucency thickness and a wide range of rare skeletal dysplasias and genetic syndromes that are usually found in less than one in 10,000 pregnancies; however, the number of affected cases, both in the present and in previous series of fetuses with increased nuchal translucency thickness, is too small for definite conclusions to be drawn. The rates of miscarriage and perinatal death increase, whereas the rate of survival and the prevalence of live births with no obvious abnormalities decrease with increasing nuchal translucency thickness.
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PMID:Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. 967 83

Craniofacial duplication (diprosopus) is a rare form of conjoined twin. A 16 year old mother with a twin pregnancy delivered one normally formed baby boy and one diprosopus male. The malformed baby was 33 weeks of gestation with a single trunk, normal limbs and various degrees of facial duplication. Of the following structures there were two of each: noses, eyes, ears (and one dimple), mouths, tongues and, with bilateral central cleft lips and cleft palates. This was associated with holoprosencephaly and craniorachischisis. Internal organs showed no duplication. There were multiple congenital anomalies including diaphragmatic hernia, small lungs, two lobes of the right lung, ventricular septal defect, small adrenal gland and small left kidney with short ureter. The body also had a short neck, small chest cavities and kyphosis. X-ray revealed duplication of the vertebral column. The case presented here represents a type II of diprosopia of Rating (1933) and is the least common type reported. We also reviewed 22 recently reported cases of diprosopus. In addition to facial duplication, anencephaly, neural tube defect and cardiac malformations represent the more common congenital abnormalities associated with diprosopus. The pathogenesis of diprosopus is not well understood. Factors that play a role in diprosopus are probably similar to those factors (genetic, environmental and abnormal placental circulation) which affect monozoygotic twins as observed in this case report. Early ultrasonography diagnosis of diprosopus permits one to consider a vaginal therapeutic abortion.
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PMID:Diprosopus (partially duplicated head) associated with anencephaly: a case report. 1004 94

The potential of a new fluorescent in situ hybridization technique is discussed, which uses a complete set of telomeric probes to reveal cryptic chromosome rearrangements that remain undetected by standard cytogenetic analysis. We report the obstetric history of a patient who had a termination of pregnancy at 20 weeks for a fetus with multiple congenital anomalies but a normal male karyotype using conventional G-banding analysis on a mid-trimester placental biopsy. In a subsequent pregnancy, a diaphragmatic hernia and intra-uterine growth restriction were detected at 34 weeks' gestation and a fetal blood sample showed a normal female karotype. However, her child was born with dysmorphic features and additional severe abnormalities including microcephaly, anophthalmos and left fixed talipes. The child has shown marked developmental delay. In view of a strong family history of congenital abnormalities and recurrent miscarriage suggestive of a familial translocation, a fluorescent in situ hybridization technique using specific telomeric probes was performed on blood from the affected child and her parents. An unbalanced subtelomeric translocation was detected involving the long arms of chromosomes 2 and 7 in the child and a balanced translocation was detected in her father. Accurate genetic counselling and the opportunity for early prenatal diagnosis can now be offered to this family.
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PMID:A case of recurrent congenital fetal anomalies associated with a familial subtelomeric translocation. 1041 76


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