β Levin, Chynna Bracha;Wineland, Claire
π Fiction
π
2012
π CreateSpace Independent Publishing Platform; Busin
π English
β 48 KB
π 2 views
β¦ LIBER β¦
Increased frequency of cystic fibrosis among infants with jejunoileal atresia
β Scribed by Roberts, Helen E.; Cragan, Janet D.; Cono, Joanne; Khoury, Muin J.; Weatherly, Mark R.; Moore, Cynthia A.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 15 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980806)78:5<446::aid-ajmg9>3.0.co;2-j
No coin nor oath required. For personal study only.
β¦ Synopsis
There appears to be an increased frequency of cystic fibrosis (CF) among infants with jejunoileal atresia (JIA). However, the figures vary widely, and no population-based data exist. The purpose of this study was to quantitate the magnitude of the association between JIA and CF in Atlanta using population-based data from 1968 to 1995. Case subjects included all infants with isolated JIA born during 1968-1995 to mothers residing in the five-county metropolitan Atlanta area at the time of birth. To ascertain cases, we reviewed records of the Metropolitan Atl a n t a C o n g e n i t a l D e f e c t s P r o g r a m (MACDP), a population-based birth defects registry. Caucasian JIA cases were crossreferenced with patients in the CF registry at the Egleston Cystic Fibrosis Center at Emory University to more completely ascertain the diagnosis of CF among JIA cases. During 1968-1995, MACDP ascertained a total of 94 isolated JIA cases, for a birth prevalence of 1.8/10,000 live births. Among the cases, 38 were Caucasian, 52 were African-American, and 4 were of Asian or Hispanic ethnicity. Four of the 38 Caucasian JIA cases (11%) also had CF. The expected number of JIA cases with CF is 0.019 based on the estimated population incidence of 1/ 2,000 for CF. The observed to expected (O/E) ratio of Caucasian JIA cases with CF is greater than 210 (P < 0.0001). Caucasian infants with JIA have more than 210 times the risk for CF compared with Caucasian infants in the general population. The results of this study have implications for the management of infants born with JIA and genetic counseling for families with affected infants.
π SIMILAR VOLUMES
Familial occurrence of pulmonary atresia
β Grossfeld, Paul D.; Lucas, Victor W.; Sklansky, Mark S.; Kashani, Iraj A.; Rothm
π Article
π
1997
π John Wiley and Sons
π English
β 20 KB
π 2 views
Pulmonary atresia with intact ventricular septum (PA/IVS) is a rare disease, accounting for less than 3% of all congenital heart lesions. The cause of PA/IVS is unknown. We report the occurrence of two first cousins with PA/IVS, suggestive of autosomal dominant inheritance with incomplete penetrance
Calculating posterior cystic fibrosis ri
β Hodge, Susan E.; Lebo, Roger V.; Yesley, Anne R.; Cheney, Susan M.; Angle, Heide
π Article
π
1999
π John Wiley and Sons
π English
β 20 KB
π 2 views
We describe a general approach to derive fetal risk following two separate test results that each raise the likelihood of the same fetal abnormality without clearly determining whether the abnormality exists. Echogenic bowel observed on fetal ultrasonography may have multiple causes, including an a
Frequency of fragile X syndrome among Tu
β TunοΏ½bilek, ErgοΏ½l; Alikasifo??lu, Mehmet; Boduro??lu, Koray; Aktas, Dilek; Anar,
π Article
π
1999
π John Wiley and Sons
π English
β 7 KB
π 2 views
Sibs affected with both Ehlers-Danlos sy
β Jarisch, Andrea; Giunta, Cecilia; Zielen, Stefan; KοΏ½nig, Rainer; Steinmann, Beat
π Article
π
1998
π John Wiley and Sons
π English
β 30 KB
π 1 views
We report on the unprecedented combination of two recessively inherited disorders, the kyphoscoliosis type of Ehlers-Danlos syndrome (EDS type VI) and cystic fibrosis (CF), in two sibs born to consanguineous Turkish parents. Because of failure to thrive and bronchitis CF was diagnosed in the index p
Silver-Russell syndrome and cystic fibro
β Hehr, Ute; DοΏ½rr, Sylvia; Hagemann, Monika; Hansmann, Ingo; Preiss, Uwe; BrοΏ½mme,
π Article
π
2000
π John Wiley and Sons
π English
β 12 KB
π 1 views
reported the first two cases of uniparental disomy (UPD) in men. Both patients were identified because of the observed autosomal recessive phenotype of cystic fibrosis (CF) resulting from homozygosity for a maternally inherited CFTR mutation. Prenatal and postnatal growth retardation in both patient