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Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension.(More)
OBJECTIVE The aims of the present study were to 1) evaluate autonomic function during the oral glucose tolerance test (OGTT) in pregnant women and 2) investigate whether gestational diabetes mellitus (GDM) modifies autonomic control of heart rate variability. RESEARCH DESIGN AND METHODS We prospectively studied 27 pregnant women (15 without GDM, 12 with(More)
Charcot-Marie-Tooth (CMT) disease refers to a heterogeneous group of axonal and demyelinating polyneuropathies, characterized by chronic motor and sensory dysfunction. CMT is the most common genetic cause of neuropathy. The present study aimed to identify the gene mutation responsible for CMT in Ashkenazi Jew (AJ) patient. Genomic DNA was extracted from(More)
This study assessed the use and complications of late amniocentesis (AC) and analyzed factors that affect complication rate. A retrospective analysis of 167 genetic AC performed after 24 weeks during a 10-year period in two medical centers was conducted. Data regarding the indications for AC, genetic work-up, and pregnancy outcomes were retrieved from(More)
Importance Lower than expected first-trimester crown-rump length (CRL) is a common sonographic finding, usually leading to reassessment of gestational age. Objective The aim of this study was to perform a meta-analysis defining the risk of chromosomal aberrations in pregnancies with decreased first-trimester CRL. Evidence Acquisition A search was(More)
This is a case study of a 28-year old woman, gravida 1 para 0, presented at 37+4 weeks gestation due to purpura and fetal death. A 3700 gram dead male fetus without gross malformation was delivered by forceps. Post delivery abruptio placentae, diffuse intravascular coagulation, fulminant preeclampsia and acute renal failure followed. Skin biopsy revealed(More)
OBJECTIVE To perform a systematic review examining the risk of chromosomal aberrations in apparently isolated intrauterine growth restriction (IUGR). METHODS Search was conducted by research librarian in 5 databases. By independent screening of 2894 references, 2 investigators selected original studies examining the risk of chromosomal aberrations in(More)
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