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)

The fetal urinary bladder was visualized sonographically in 1254 (94%) of 1335 consecutive fetuses of 14 weeks of development or older, but it could not be seen in 81 cases (6%). Five of these cases were lost to follow-up and were excluded from the study. Of the remaining 76 cases, 69 (91%) of the pregnancies progressed to term, and the infants were normal at birth and at 6 week perinatal follow-up. Seven (9%) of the fetuses had a variety of associated obstetrical abnormalities that resulted in fetal demise or termination of the pregnancy (oligohydramnios, hydrops, intrauterine growth retardation [IUGR], ventriculomegaly, diaphragmatic hernia, cystic hygroma, and triploidy). Notably, none of these were renal tract anomalies. We concluded that (1) nonvisualization of the fetal urinary bladder with an otherwise normal sonogram, including normal volume of amniotic fluid and normal renal areas, is of no clinical concern and does not require follow-up, and (2) nonvisualization of the fetal urinary bladder in the setting of associated obstetrical abnormalities may be secondary to renal tract anomalies or may only be a consequence of the associated abnormalities.
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PMID:Significance of nonvisualization of the fetal urinary bladder. 181 Oct 78

Analysis of skin fibroblast cultures from a deformed stillborn female Alaskan Malamute pup revealed a 3n = 117,XXX (normal, 2n = 78,XX) chromosome count. The triploid pup was delivered by cesarean section 5 days after estimated date of parturition, because the bitch failed to start labor. The bitch had been inseminated with thawed frozen semen deposited into the lumen of the uterus approximately 4 days after ovulation. Gross anatomic abnormalities of the pup included omphalocele, diaphragmatic hernia, persistent right aortic arch, atresia ani, and no right forelimb distal to the scapula. The pup also had arthrogryposis of the left carpus, kyphosis of the thoracic vertebrae, widely separated cranial sutures, open fontanelles, hydrocephalus, and cleft palate. Suspected cause of the triploidy was dispermy of an aged oocyte after intrauterine deposition of the thawed frozen semen. Numeric chromosome abnormalities may be causes of fetal deformity or death that can be detected by fetal karyotype.
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PMID:Triploidy (117,XXX) in a stillborn canine pup conceived with frozen semen. 272 39

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.
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PMID:The ultrasound markers of chromosomal disease: a retrospective study. 831 61

Triploidy is characterized by an extra haploid set. We report a rare case of a prenatally diagnosed digynic type (McFadden/Kalousek type 2) triploid fetus with congenital diaphragmatic hernia (CDH). Prenatal ultrasonographic examination allows reliable detection of CDH and it is therefore of great importance for proper parental counselling, as well as performing fetal karyotype for associated chromosomal anomalies.
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PMID:Prenatal diagnosis of congenital diaphragmatic hernia in a McFadden Kalousek type 2 triploid fetus. 1464 18

A male patient with mosaic paternal uniparental diploidy (PUD) is presented. After birth, the patient presented with hypoglycemia, hemihypertrophy, umbilical hernia, and hepatomegaly. Afterward pancreatic hypertrophy, liver hemangiomas, and cysts were detected sonographically. At the age of 3.5 months, hepatoblastoma was diagnosed. To investigate suspected Beckwith-Wiedemann syndrome (BWS), extensive genetic analyses were performed using DNA from chorionic villus sampling, amniocentesis, and peripheral blood lymphocytes (chromosome analysis, methylation-specific multiplex ligation-dependent probe amplification assays, microsatellite analyses, and single nucleotide polymorphism array analysis). These analyses led to the detection of mosaic PUD. In peripheral blood lymphocytes, a male cell line (46,XY[27]/46,XX[5]) predominated, suggesting a mixture of uniparental isodisomy and heterodisomy. The genetic analyses suggest that the mosaic PUD status was attributable to fertilization of an oocyte by two sperms, with subsequent triploidy rescue giving rise to haploidy, which in turn was rescued. Notably, in the majority of the 28 mosaic PUD patients reported to date, BWS was initially suspected. Mosaic PUD status is associated with a higher risk for a broad range of malignant and benign tumors than in BWS. As tumors can also occur after childhood surveillance into adolescence is indicated. Mosaic PUD must therefore be considered in patients with suspected BWS.
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PMID:Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. 3137 73