The Experts below are selected from a list of 12717 Experts worldwide ranked by ideXlab platform
Gerald G. Payne - One of the best experts on this subject based on the ideXlab platform.
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In utero drug therapy.
Pharmacology & therapeutics, 1993Co-Authors: William F. Rayburn, Gerald G. PayneAbstract:Drug therapy directed toward the fetus would be intended for either treating a Fetal Disorder or improving the capacity for later intrauterine or postnatal adaptation. Most reported trials involve single cases or small numbers of fetuses receiving the drug transplacentally after the first trimester, but before attaining maturity. Studies usually involve a single drug administered shortly before delivery. Treatments that are more direct or begun earlier in gestation are being attempted, but our limited understanding of Fetal pharmacokinetics forces us to proceed cautiously. Studies to date have shown no risks to the mother and newborn infant, but long-term follow-up is necessary.
William F. Rayburn - One of the best experts on this subject based on the ideXlab platform.
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In utero drug therapy.
Pharmacology & therapeutics, 1993Co-Authors: William F. Rayburn, Gerald G. PayneAbstract:Drug therapy directed toward the fetus would be intended for either treating a Fetal Disorder or improving the capacity for later intrauterine or postnatal adaptation. Most reported trials involve single cases or small numbers of fetuses receiving the drug transplacentally after the first trimester, but before attaining maturity. Studies usually involve a single drug administered shortly before delivery. Treatments that are more direct or begun earlier in gestation are being attempted, but our limited understanding of Fetal pharmacokinetics forces us to proceed cautiously. Studies to date have shown no risks to the mother and newborn infant, but long-term follow-up is necessary.
James P. Crane - One of the best experts on this subject based on the ideXlab platform.
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Congenital hydronephrosis: Correlation of Fetal ultrasonographic findings with infant outcome
American journal of obstetrics and gynecology, 1991Co-Authors: Jane E. Corteville, Diana L. Gray, James P. CraneAbstract:Although congenital hydronephrosis is a common Fetal Disorder, ultrasonographic criteria for prenatal diagnosis remain poorly defined. In this study prenatal ultrasonographic findings were correlated with postnatal outcome in 63 fetuses with suspected hydronephrosis. Prenatal ultrasonographic measurements included length, anteroposterior diameter, and transverse diameter of the kidney and renal pelvis, as well as dorsal renal parenchymal thickness. In 45 of the 63 fetuses, hydronephrosis was confirmed postnatally. These infants were divided into two groups on the basis of renal status: (1) abnormal renal function and/or surgery required ( n = 31) and (2) normal renal function with no surgery required ( n = 14). The anteroposterior diameter of the renal pelvis was the simplest and most sensitive technique for prenatal diagnosis of congenital hydronephrosis, allowing identification of 100% of cases. Postnatal follow-up studies are warranted if an anteroposterior pelvic diameter is ≥4 mm before 33 weeks or ≥7 mm after 33 weeks.
Chantal Esculpavit - One of the best experts on this subject based on the ideXlab platform.
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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Human Mutation, 2009Co-Authors: Soumaya Mougou-zerelli, Sophie Thomas, Emmanuelle Szenker, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal EsculpavitAbstract:Meckel-Gruber syndrome (MKS) is a lethal Fetal Disorder characterized by diffuse renal cystic dysplasia, polydactyly, a brain malformation that is usually occipital encephalocele, and/or vermian agenesis, with intrahepatic biliary duct proliferation. Joubert syndrome (JBS) is a viable neurological Disorder with a characteristic "molar tooth sign" (MTS) on axial images reflecting cerebellar vermian hypoplasia/dysplasia. Both conditions are classified as ciliopathies with an autosomal recessive mode of inheritance. Allelism of MKS and JBS has been reported for TMEM67/MKS3, CEP290/MKS4, and RPGRIP1L/MKS5. Recently, one homozygous splice mutation with a founder effect was reported in the CC2D2A gene in Finnish fetuses with MKS, defining the 6th locus for MKS. Shortly thereafter, CC2D2A mutations were also reported in JBS. The analysis of the CC2D2A gene in our series of MKS fetuses, identified 14 novel truncating mutations in 11 cases. These results confirm the involvement of CC2D2A in MKS and reveal a major contribution of CC2D2A to the disease. We also identified three missense CC2D2A mutations in two JBS cases. Therefore, and in accordance with the data reported regarding RPGRIP1L, our results indicate phenotype-genotype correlations, as missense and presumably hypomorphic mutations lead to JBS while all null alleles lead to MKS.
Jane E. Corteville - One of the best experts on this subject based on the ideXlab platform.
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Congenital hydronephrosis: Correlation of Fetal ultrasonographic findings with infant outcome
American journal of obstetrics and gynecology, 1991Co-Authors: Jane E. Corteville, Diana L. Gray, James P. CraneAbstract:Although congenital hydronephrosis is a common Fetal Disorder, ultrasonographic criteria for prenatal diagnosis remain poorly defined. In this study prenatal ultrasonographic findings were correlated with postnatal outcome in 63 fetuses with suspected hydronephrosis. Prenatal ultrasonographic measurements included length, anteroposterior diameter, and transverse diameter of the kidney and renal pelvis, as well as dorsal renal parenchymal thickness. In 45 of the 63 fetuses, hydronephrosis was confirmed postnatally. These infants were divided into two groups on the basis of renal status: (1) abnormal renal function and/or surgery required ( n = 31) and (2) normal renal function with no surgery required ( n = 14). The anteroposterior diameter of the renal pelvis was the simplest and most sensitive technique for prenatal diagnosis of congenital hydronephrosis, allowing identification of 100% of cases. Postnatal follow-up studies are warranted if an anteroposterior pelvic diameter is ≥4 mm before 33 weeks or ≥7 mm after 33 weeks.