Patrícia de Campos Pieri

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A significant negative association (R(2) = 0.7642; P=.013) between particulate matter and secondary sex ratio was found when evaluating people in the city of São Paulo, Brazil. An animal model with male mice raised in nonfiltered open-top chambers showed a significant reduction in the secondary sex ratio (P=.041), suggesting that ambient air pollution may(More)
Williams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis (SVAS), mental retardation, and overfriendliness comprise typical symptoms of WBS. Although fluorescence in situ hybridization (FISH) is considered the gold standard technique, the microsatellite DNA markers and(More)
PURPOSE Screening for mutations in the entire Cystic Fibrosis gene (CFTR) of Brazilian infertile men with congenital absence of vas deferens, in order to prevent transmission of CFTR mutations to offspring with the use of assisted reproductive technologies. METHOD Specific polymerase chain reaction (PCR) primers were designed to each of the 27 exons and(More)
PCR-based screening of microdeletions in the azoospermic factor (AZF) on the Yq chromosome is an accepted means of identifying a common genetic cause of male infertility, responsible for 5-15% of cases associated with a low sperm count (</=5 x 10(6) sptz/ml). Based on an extensive analysis of the literature, we have established a cost-effective preliminary(More)
Results SLE patients had a lower median penis length and circumference [8(7.5-10) vs. 10(8-13) cm, p=0.0001; 8(710) vs. 10(7-11) cm, p=0.001; respectively], lower median testicular volume by right and left Prader [15(10-25) vs. 20(12-25) ml, p=0.003; 15(10-25) vs. 20(12-25) ml, p=0.006; respectively], higher median of FSH [5.8(2.125) vs. 3.3(1.9-9) IU/l,(More)
This study describes a new method of microcentrifugation as an improved, viable, cost-effective option to the classical Cytospin apparatus to confirm azoospermia. Azoospermic semen samples were evaluated for cryptozoospermia by a centrifugation method similar to that of World Health Organization guidelines (2010; entire specimen centrifuged at 3000g for 15(More)
Spinal muscular atrophy (SMA), the leading genetic cause of death in childhood, is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness, associated with deletions of the survival motor neuron (SMN) gene identified and mapped to chromosome 5q13. SMN is present in two highly homologous copies (SMN1 and SMN2). In the(More)
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