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Re: GastroschisisFrom: James S Smeltzer MD (gaperina@mindspring.com)Thu May 6 20:10:55 1999
Dear Bashanta, The familial risk is supposed to be low, but not zero. A mouse defect is associated with Mouse chromosome 7, so human is possible: Title A locus for radiation-induced gastroschisis on mouse Chromosome 7. Author Hillebrandt S; Streffer C; Montagutelli X; Balling R Address Institut f¨ur Medizinische Strahlenbiologie, Universit¨atsklinikum Essen, Hufelandstr.55, 45122 Essen, Germany. Source Mamm Genome, 9(12):995-7 1998 Dec Abstract Gastroschisis (abdominal wall defects) occurs with a high frequency in the mouse inbred strain HLG compared with C57BL/6J mice. The risk of gastroschisis increases significantly after exposure to irradiation with X-rays during preimplantation development and follows a recessive mode of inheritance for the HLG susceptibility alleles. We have used a backcross strategy and genome-wide microsatellite typing to chromosomally map this trait. A suggestive linkage for a locus responsible for radiation-induced gastroschisis (Rigs1) was found in a region of mouse Chromosome 7. Language Eng Unique Identifier 99099243 Here is a reference from a good source for this kind of information: http://www3.ncbi.nlm.nih.gov/Omim/searchomim.html 230750 GASTROSCHISIS Alternative titles; symbols ABDOMINAL WALL DEFECTS, INCLUDED TABLE OF CONTENTS •TEXT •REFERENCES •CREATION DATE •EDIT HISTORY •CLINICAL SYNOPSIS Database Links <Picture: 8 MEDLINE Citations> Note: pressing the <Picture: Light Bulb> symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function. TEXT Gastroschisis is defined by Dorland's Medical Dictionary as 'a congenital fissure of the abdominal cavity.' It may be fundamentally the same as omphalocele, which is defined by the same source as 'protrusion, at birth, of part of the intestine through a large defect in the anterior abdominal wall at the umbilicus, the protruding bowel being covered only by a thin transparent membrane composed of amnion and peritoneum.' See omphalocele (164750, 310980) and the EMG syndrome (130650). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981). Occurrence of gastroschisis in sibs was reported by Salinas et al. (1979) and by Lowry and Baird (1982). Hershey et al. (1989) described 2 families with multiple sibs with abdominal wall defects. In the first family, normal parents gave birth to identical (monochorionic, diamniotic twins) with gastroschisis. In the second family, a normal mother gave birth to a son with omphalocele and later, by a different husband, to a stillborn girl with partial atresia of the colon and a liveborn girl with gastroschisis. In neither case were there associated anomalies. The experience suggests that some cases of gastroschisis and omphalocele may have the same genetic basis. From a population-based study of omphalocele and gastroschisis, Yang et al. (1992) concluded, however, that the two are distinct. They also found differences according to whether each was an isolated defect or was associated with multiple other birth defects. More than 50% of infants with omphalocele had additional defects, but only about 15% of those with gastroschisis do. An autosomal recessive model of inheritance was found to be the most parsimonious explanation for the families of infants with isolated omphalocele or gastroschisis. Torfs and Curry (1993) found only 6 published reports of familial occurrence of gastroschisis. They reported on a population-based evaluation of familial occurrence. In California, the prevalence of gastroschisis was estimated to be about 2/10,000 births and to be highest in the youngest mothers, rarely occurring in mothers more than 30 years of age. Males were more frequently affected than females; M/F = 1.5. In an investigation of the families of 127 cases, they found 6 (4.7%) in which there was 1 affected relative. The relationships of the affected were: sib, half-sib (2), first cousin, second cousin once removed, and great uncle. Sib recurrence was 3.5%. Bugge et al. (1994) described a pair of monozygotic female twins discordant for gastroschisis. Zygosity was verified by DNA analysis using highly polymorphic microsatellites. They found reports of 8 instances of recurrence of gastroschisis in 2 sibs. In 2 separate reports, gastroschisis occurred in half-sibs with different fathers. In 2 other reports, gastroschisis occurred in cousins. <Picture: 30 MEDLINE Neighbors> In a report on 274 cases of gastroschisis registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980-1990, Calzolari et al. (1995) gave a prevalence rate for gastroschisis of 0.94 per 10,000. Gastroschisis was an isolated malformation in 79% of cases. Prenatal diagnosis leading to termination of pregnancy was reported in 26.5% of gastroschisis cases. On the basis of clinical manifestations, epidemiologic characteristics, and the presence and type of additional malformations, gastroschisis could be considered a heterogeneous condition. <Picture: 30 MEDLINE Neighbors> REFERENCES 1. Baird, P. A.; MacDonald, E. C. : An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births. Am. J. Hum. Genet. 33: 470-478, 1981. PubMed ID : 6454342 2. Bugge, M.; Petersen, M. B.; Christensen, M. F. : Monozygotic twins discordant for gastroschisis: case report and review of the literature of twins and familial occurrence of gastroschisis. Am. J. Med. Genet. 52: 223-226, 1994. PubMed ID : 7802013 3. Calzolari, E.; Bianchi, F.; Dolk, H.; Milan, M.; EUROCAT Working Group : Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. Am. J. Med. Genet. 58: 187-194, 1995. PubMed ID : 8533813 4. Hershey, D. W.; Haesslein, H. C.; Marr, C. C.; Adkins, J. C. : Familial abdominal wall defects. Am. J. Med. Genet. 34: 174-176, 1989. PubMed ID : 2530900 5. Lowry, R. B.; Baird, P. A. : Familial gastroschisis and omphalocele. (Letter) Am. J. Hum. Genet. 34: 517-518, 1982. PubMed ID : 6211093 6. Salinas, C. F.; Bartoshesky, L.; Othersen, H. B.; Leape, L.; Feingold, M.; Jorgenson, R. J. : Familial occurrence of gastroschisis. Am. J. Dis. Child. 133: 514-517, 1979. PubMed ID : 155396 7. Torfs, C. P.; Curry, C. J. R. : Familial cases of gastroschisis in a population-based registry. Am. J. Med. Genet. 45: 465-467, 1993. PubMed ID : 8465852 8. Yang, P.; Beaty, T. H.; Khoury, M. J.; Chee, E.; Stewart, W.; Gordis, L. : Genetic-epidemiologic study of omphalocele and gastroschisis: evidence for heterogeneity. Am. J. Med. Genet. 44: 668-675, 1992. PubMed ID : 1481831 230750 GASTROSCHISIS <Picture> CLINICAL SYNOPSIS Abdomen : Gastroschisis Anterior abdominal wall defect Inheritance : Autosomal recessive vs. multifactorial There is an article attributing the risk to diet, which you may consider in counselling this patient: Title Association between mothers' nutrient intake and their offspring's risk of gastroschisis. Author Torfs CP; Lam PK; Schaffer DM; Brand RJ Address California Birth Defects Monitoring Program, Emeryville 94608-1811, USA. Source Teratology, 58(6):241-50 1998 Dec Abstract The young age of mothers of infants with gastroschisis, a congenital defect of the abdominal wall, suggested that deficient nutrition, with maternal-fetal competition for nutrients, could be a risk factor for gastroschisis. This population-based hypothesis-generating study consisted of 55 cases of gastroschisis and 182 matched controls. We assessed maternal nutrient intake during the trimester before conception with a self-reported food-frequency questionnaire and screened 38 nutrients to identify those most likely to be associated with gastroschisis. We used statistical classification trees to empirically generate cutpoints that determined the low and high levels of nutrient intakes corresponding to the risk of gastroschisis; cutpoints for most nutrients were similar to the corresponding recommended daily dietary allowances (RDAs). In univariate analysis, low intake of several nutrients emerged as the leading risk factors: carotenoids, e.g., alpha-carotene (odds ratio (OR) = 4.6; 95% confidence interval (CI) = 2.2-9.5), beta-carotene (OR = 3.1; 95% CI 1.6-6.0); amino-acid compounds, e.g., total glutathione (OR = 3.5; 95% CI 1.7-7.2); vitamin C (OR = 2.2; 95% CI = 1.5-7.8); vitamin E (OR = 2.3; 95% CI = 1.2-4.4); and minerals, fiber, and the fruit-and-vegetable group (OR 3.1; 95% CI = 1.5-6.2). High intake of nitrosamines (OR = 2.4; 95% CI 1.3-4.5) was also a good candidate. Many nutrient values were correlated and, in multivariate analysis, those most associated with gastroschisis were low alpha-carotene (OR = 4.3; 95% CI = 1.9-9.8), low total glutathione (OR = 3.3; 95% CI = 1.4-7.6), and high nitrosamines (OR = 2.6; 95% CI 1.3-5.4). Adjusting for variables associated with gastroschisis in previous analyses of this population did not substantially alter those risks. These results suggest that maternal dietary inadequacy may be a risk factor for gastroschisis, and the three nutrients that emerged from the nutrient screening appear to be the best candidates to examine in further epidemiological analyses or biological studies. Language Eng Unique Identifier 99112044 In utero therapy is not done usually, as survival is usually good with prolonged nutritional support and intensive care. These infants may often require prolonged nutritional support. This may be from the irritation of the gut serosa and reaction to hypotonic amniotic fluid, or the ischemia from the exteriorized segment or partial obstruction that is chronic in utero. Good luck with this and I hope that it turns out well. I hope this information has helped. Jim Smeltzer MD See also, from http://www.infotrieve.com/healthworld/ : Title Gastroschisis: a ten year review. Author Ortiz VN; Villarreal DH; Gonz´alez Olmo J; Ramos Perea C Address Department of Surgery, Mayaguez Medical Center, Puerto Rico. Source Bol Asoc Med P R, 90(4-6):69-73 1998 Apr-Jun Abstract
>From 1983 to 1993, 30 cases of gastroschisis were managed at the Mayaguez Language Eng Unique Identifier 99083502 Title Intra-amniotic inflammation in human gastroschisis: possible aetiology of postnatal bowel dysfunction. Author Morrison JJ; Klein N; Chitty LS; Kocjan G; Walshe D; Goulding M; Geary MP; Pierro A; Rodeck CH Address Department of Obstetrics and Gynaecology, University College London Medical School. Source Br J Obstet Gynaecol, 105(11):1200-4 1998 Nov Abstract OBJECTIVE: To assess amniotic fluid for evidence of an inflammatory exudate in association with fetal gastroschisis. SETTING: University College Hospital, London and Institute of Child Health, London. SAMPLE: Samples of amniotic fluid in the third trimester from pregnant women with a diagnosis of fetal gastroschisis (n = 10) and from a control group (n = 10) with a normal fetus. METHODS: Cytological analysis of the fluid was performed. Flow cytometry was performed on the amniotic fluid using antibodies for the myeloid cell antigen CD15, the leucocyte beta integrin CD11b/CD18 and CD3, CD19, CD56 and CD25. Tumour necrosis factor alpha and interleukin-8 levels were assayed in the amniotic fluid. RESULTS: An acute inflammatory exudate, composed predominantly of neutrophil polymorphs and mononuclear cells, was found in the amniotic fluid in fetal gastroschisis but not in control cases. When amniotic fluid samples from cases of fetal gastroschisis were stained with CD15, analysis by flow cytometry showed a clear positive population. This CD15 population showed markedly elevated levels of CD11b. No distinct population of CD15 positive cells was seen in amniotic fluid samples examined from the control group. No staining was seen with antibodies to CD3, CD19, CD56 or CD25 in amniotic fluid obtained from either group. There was no significant difference between tumour necrosis factor alpha levels measured in the amniotic fluid of cases of fetal gastroschisis (median 102 pg/mL; range 20-340) and those of the control group (140 pg/mL; range 20-548) (P = 0.1). The levels of interleukin-8 were markedly elevated in the amniotic fluid of cases of fetal gastroschisis (median 6320 pg/mL; range 4732-13,800) compared with the control group (median 1738 pg/mL; range 623 2861;) (P < 0.01). CONCLUSION: Human fetal gastroschisis is associated with an inflammatory exudate in the amniotic fluid which may have implications for postnatal bowel function. Language Eng Unique Identifier 99068659 Title Elective delayed reduction and no anesthesia: 'minimal intervention management' for gastrochisis. Author Bianchi A; Dickson AP Address Neonatal Surgical Unit, St Mary's Hospital, Manchester, England. Source J Pediatr Surg, 33(9):1338-40 1998 Sep Abstract PURPOSE: In a pilot study of 14 children, born when the authors were on a 1:5 "on take" for neonatal referrals, a policy evolved of elective delayed midgut reduction without anaesthesia or sedation in the incubator on the neonatal surgical unit. There was no other form of selection, and it was fortunate that the authors did not encountered any adverse criteria in this small series. METHODS: Bowel reduction, which was pain free, was undertaken conventionally with the same attention and with no greater difficulty than under general anesthesia. Delaying midgut reduction for more than 4 hours led to more stable cardiovascular, respiratory, and renal parameters. Moderate lower limb congestion cleared rapidly. RESULTS: At the end of the procedure, all children were conscious, and 12 were alert and indistinguishable from normal babies. A mild periumbilical infection developed in two patients. Eleven of the 12 surviving children established enteral nutrition within 11 to 32 days, eight within 18 days. Another child with ileal atresia and bowel dilatation required bowel tailoring and lengthening (LILT) to allow enteral nutrition. All are physically and developmentally normal, and none has required umbilical herniorrhaphy or umbilicoplasty. All except one have a "scarless" abdomen and an aesthetically normal umbilicus. In marked comparison, two children immediately and obviously were unwell with abdominal pain, tachycardia, and metabolic acidosis. Abdominal wall cellulitis rapidly developed in both. At laparotomy one had a midgut volvulus and died at 22 months of short bowel syndrome (SBS) and the other with a perforated segmental ileal atresia died at 7 months of Enterobacter cloacae septicaemia. CONCLUSIONS: Our small study suggests that delayed midgut reduction without anaesthesia appears safe, carrying no additional morbidity or mortality. It helps avoid anaesthesia, muscle relaxants, and ventilation and has obvious resource benefits. The conscious child is a safety asset, and any postreduction deviation from a "normal, well-perfused, comfortable, and painfree" child is an indication for urgent laparotomy. This "minimal intervention management," when applicable, has become our preferred first option for children with gastroschisis. Further extension of this study will determine those not eligible for this technique and establish "exclusion criteria." Language Eng Unique Identifier 98437738 Title An experimental study investigating the effects of intraperitoneal human neonatal urine and meconium on rat intestines. Author Akg¨ur FM; Ozdemir T; Olguner M; Aktu¨g T; Ozer E Address Department of Pediatric Surgery, Dokuz Eyl¨ul University, Medical Faculty, Izmir, Turkey. akgurfm@cs.med.deu.edu.tr Source Res Exp Med (Berl), 198(4):207-13 1998 Dec Abstract Urinary waste products (UWP) in the amniotic fluid have been held responsible for the intestinal damage (ID) in gastroschisis, based on the fact that the fetus urinates physiologically into the amniotic cavity. However, experimental and clinical evidence suggests that intrauterine defecation is a physiological event; thus gastrointestinal waste products (GWP) may also be responsible for ID in gastroschisis. An experimental study was performed to investigate the effects of intraperitoneal human neonatal urine and diluted meconium on rat intestines. Adult Wistar albino rats were used. Sterile urine and meconium were obtained from newborn humans and 5% meconium suspension was prepared. Histopathological features of the intestines of the rats injected with urine did not differ from the intestines of the untreated rats. The bowel in rats injected with a meconium suspension showed serosal thickening, inflammation, focal fibrin and collagen deposits. Histopathological changes in intestines induced by intraperitoneal diluted meconium were consistent with those described for human gastroschisis specimens. We conclude that GWP, rather than UWP, seems to be responsible for the ID in gastroschisis. Language Eng Unique Identifier 99095672
At 11:46 AM 5/4/1999 -0500, you wrote:
>Dear Colleagues,
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