Disease relevance of Hernia, Umbilical

• These mice display many of the characteristics of BWS, including placentomegaly and dysplasia, kidney dysplasia, macroglossia, cleft palate, omphalocele, and polydactyly [1].
• This excess of IGF-II causes somatic overgrowth, visceromegaly, placentomegaly, omphalocele, and cardiac and adrenal defects, which are also features of the Beckwith-Wiedemann syndrome (BWS), a genetically complex human disorder associated with chromosomal abnormalities in the 11p15.5 region where the IGF2 gene resides [2].
• Anuria, omphalocele, and perinatal lethality in mice lacking the CD34-related protein podocalyxin [3].
• Mercury poisoning from mercurochrome therapy of infected omphalocele [4].
• These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), esophageal atresia/tracheoesophageal fistula (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients) [5].

Psychiatry related information on Hernia, Umbilical

• Her medical history is significant for having been a twin born at 35 weeks gestation, breech presentation, with feeding problems and poor growth as an infant, gastroesophageal reflux disease, peripheral pulmonic stenosis, omphalocele, high myopia, and severe mental retardation [6].

High impact information on Hernia, Umbilical

• Letter: Maternal alpha-fetoprotein and fetal exomphalos [7].
• Mice homozygous for the calreticulin gene disruption developed omphalocele (failure of absorption of the umbilical hernia) and showed a marked decrease in ventricular wall thickness and deep intertrabecular recesses in the ventricular walls [8].
• Twenty-five percent had exencephaly and 19% had omphalocele (normal frequencies, < 1%), indicating high frequencies of midline defects, particularly in cranial neurulation [9].
• We have observed numerous aberrations in Bent tail embryos including exencephaly, rotation defects and occasionally omphalocele, orofacial schisis and situs abnormalities [10].
• This showed a significantly higher frequency of exomphalos in the CDKN1C mutation cases (11/13) than in patients with an imprinting centre defect (associated with biallelic IGF2 expression and H19 silencing) (0/5, p<0.005) or patients with uniparental disomy (0/9, p<0.005) [11].

Chemical compound and disease context of Hernia, Umbilical

• The occurrence of neural tube defects and/or omphalocele in reported cases of trisomy 18 is discussed and the frequency of these anomalies in 85 trisomy 18 patients evaluated at Indiana University School of Medicine from 1963 to 1986 is reviewed [12].
• Chromosome analysis is essential when the amniotic fluid AFP is elevated because of the known association between open fetal defects (spina bifida, omphalocele, and scalp defects) and trisomies 13 and 18 [13].
• Hypothyroidism caused by topical povidone-iodine in a newborn with omphalocele [14].
• A radiopaque biofragmentable anastomosis ring was used for end-to-end anastomosis in a 3-month-old calf with a nonreducible umbilical hernia and partial small intestinal obstruction [15].
• Current treatment of a newborn with cloacal exstrophy includes closure of the omphalocele, separation of the gastro-intestinal tract from the hemibladders, and closure of the two hemibladders as a single viscus [16].

Biological context of Hernia, Umbilical

• In contrast, polyacrylamide gel electrophoresis revealed only a single band of ChE activity in 1408 out of 1410 fluids from pregnancies with a normal outcome whilst amniotic fluids from all 60 cases of open NTD, 6 out of 7 cases of exomphalos and 3 out of 4 cases of intra-uterine death gave the characteristic second faster-running AChE band [17].
• Included were all live births, fetal deaths and terminations of pregnancy diagnosed with one or more of the following malformations: anencephalus, encephalocele, spina bifida, hydrocephalus, transposition of great arteries, hypoplastic left heart, limb reduction defect, bilateral renal agenesis, diaphragmatic hernia, omphalocele and gastroschisis [18].
• A female patient is described with a karyotype 46,XX,del (9) (p22) showing characteristic dysmorphic phenotype: trigonocephaly, prominent forehead, long philtrum, small mouth, high arched palate, low set ears, short neck, widely spaced nipples, long fingers and toes, omphalocele [19].
• In this study, we tested single nucleotide polymorphisms in folate-related enzyme genes for association with omphalocele [20].
• The observed increase in incidence of gastroschisis relative to exomphalos and the differentiation in maternal age have implications for resource management within the NHS and warrant further epidemiological monitoring [21].

Anatomical context of Hernia, Umbilical

• Amniotic fluid alpha-fetoprotein elevation with fetal omphalocele and a possible mechanism for its occurrence [22].
• These included a large infraumbilical, anterior midline defect, a protruding large omphalocele, an absent bladder, a narrowed thorax, a distorted spine, a large sacral meningomyelocele, and bilateral clubfeet [23].
• We present a case of partial Cantrell's syndrome with ventricular septal defect, left ventricular diverticulum, dextrorotation of the heart, an anterior diaphragmatic defect, and a midline supraumbilical abdominal wall defect with omphalocele [24].
• Obstruction of umbilical hernia in children is uncommon, but seven out of 51 operations for umbilical hernia were done as emergencies for obstruction, in 38 months, in Kuwait. Unusual conditions like Richter type obstruction and gangrenous omentum were noted in two children [25].
• Care of the umbilical cord may be less than optimal in babies born at home in unsupervised "home delivery." Minor congenital anomalies of the umbilical cord, such as umbilical hernia, and major anomalies, such as gastroschisis and omphalocele, are reviewed in this article [26].

Gene context of Hernia, Umbilical

• In this small study, the thermolabile variant of MTHFR, 677C-->T, was associated with an increased risk for omphalocele [20].
• The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele [20].
• A review documented four more cases with MDS/isolated lissencephaly/17p-, with omphalocele [27].
• We did not find any mutations in exon 5 of FLNA in 179 omphalocele cases studied [28].
• Mutations in PITX2 may contribute to cases of omphalocele and VATER-like syndromes [28].

Analytical, diagnostic and therapeutic context of Hernia, Umbilical

• Ratio of amniotic fluid acetylcholinesterase to pseudocholinesterase as an antenatal diagnostic test for exomphalos and gastroschisis [29].
• Two hundred and seventy six infants with esophageal atresia, imperforate anus, omphalocele, gastroschisis, or diaphragmatic hernia were screened for latent congenital anomalies not detected by the routine history, physical examination, and roentgenograms [30].

References