The Experts below are selected from a list of 513 Experts worldwide ranked by ideXlab platform
Ronald Librizzi - One of the best experts on this subject based on the ideXlab platform.
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prenatal presentation of congenital chloride diarrhea clinical report and review of the literature
American Journal of Perinatology, 1992Co-Authors: Nancy C Rose, Paige Kaplan, Steven Scott, Andrew Kousoulis, Ronald LibrizziAbstract:A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe Hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.
Nancy C Rose - One of the best experts on this subject based on the ideXlab platform.
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prenatal presentation of congenital chloride diarrhea clinical report and review of the literature
American Journal of Perinatology, 1992Co-Authors: Nancy C Rose, Paige Kaplan, Steven Scott, Andrew Kousoulis, Ronald LibrizziAbstract:A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe Hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.
N Hailman - One of the best experts on this subject based on the ideXlab platform.
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congenital chloride diarrhea an autosomal recessive disease genetic study of 14 finnish and 12 other families
Clinical Genetics, 2008Co-Authors: Reijo Norio, J Perheentupa, K Launiala, N HailmanAbstract:Congenital chloride diarrhea (CCD) is a persistent, life-thieatening watery diarrhea with a uniquely high chloride concentration of stool water. It is manifested prenatally hy Hydramnios. Evidence was sought to substantiate its genetic transmission as an autosomal recessive trait. Genetic data on 12 families reported from outside Finland and 11 evident and 3 probable families in Finland are discussed. The occurrence was familial in at least 5 sibships. No sex-specificity was found. The corrected proportion of affected siblings was 0.18 -0.29 (extreme possibilities of ascertainment). The parental marriage was consanguineous in 3 evident and 3 probable families, and 17 out of 27 known parents were shown to be consanguineous with 1 -8 other CCD parents. The ancestors were unevenly distributed geographically, originating mainly from the eastern parts of Finland. These findings, taken with the peculiar population structure of Finland, constitute distinct evidence for the autosomal recessive mode of transmission of CCD. The name congenital chloride diarrhea is advocated.
Steven Scott - One of the best experts on this subject based on the ideXlab platform.
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prenatal presentation of congenital chloride diarrhea clinical report and review of the literature
American Journal of Perinatology, 1992Co-Authors: Nancy C Rose, Paige Kaplan, Steven Scott, Andrew Kousoulis, Ronald LibrizziAbstract:A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe Hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.
Andrew Kousoulis - One of the best experts on this subject based on the ideXlab platform.
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prenatal presentation of congenital chloride diarrhea clinical report and review of the literature
American Journal of Perinatology, 1992Co-Authors: Nancy C Rose, Paige Kaplan, Steven Scott, Andrew Kousoulis, Ronald LibrizziAbstract:A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe Hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.
