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We developed two multiplex systems for the coamplification of X-chromosomal short tandem repeats (STRs). X-Multiplex 1 consisted of DXS6807, DXS6800, DXS7424, DXS101, GATA172D05 and HPRTB and X-Multiplex 2 consisted of DXS8378, DXS9898, DXS6801, DXS6809, DXS6789, DXS7133, DXS8377 and DXS7423. In addition, we present allele frequencies for these loci in a south Brazilian population comprising 124 females and 141 males and haplotype frequencies of linked markers for males. Hardy-Weinberg equilibrium (HWE) was tested in the female sample and no significant deviations were found after applying Bonferroni's correction. Linkage disequilibrium (LD) tests were performed for all pairs of loci and three significant results, out of 91 pairwise comparisons, were obtained. We did not find any evidence of linkage disequilibrium between close or linked markers. The power of discrimination in females (PD(F)) varied between 0.832 for DXS6801 and 0.987 for DXS8377. DXS6801 was the least informative marker (PIC = 0.605), while DXS8377 was the most polymorphic (PIC = 0.911), followed by DXS101 (PIC = 0.872). Genetic distances were estimated for each STR marker applying the calculation of F (ST) between our total sample and other studies from Brazil, Europe, Asia and Africa. The most distant populations were Japan, Korea, China, Ghana and Uganda.
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http://dx.doi.org/10.1007/s00414-011-0629-7 | DOI Listing |
JCO Glob Oncol
May 2025
Grupo Oncoclínicas, São Paulo, Brazil.
Head and neck squamous cell carcinoma (HNSCC) represents a significant public health burden in developing countries, where access to early diagnosis, comprehensive care, and research infrastructure is limited. This article synthesizes the insights generated during a Fireside Chat convened by members of the Latin American Cooperative Oncology Group (LACOG)-Head and Neck and the Brazilian Group of Head and Neck Cancer (GBCP), with the participation of international expert Professor Hisham Mehanna. The discussion addressed key challenges and opportunities in clinical and translational research within resource-constrained settings.
View Article and Find Full Text PDFAllergol Immunopathol (Madr)
September 2025
Molecular Biology, Translational Research Laboratory, Hospital da Criança de Brasília José Alencar, Brasília-Brazil.
The diagnosis of chronic granulomatous disease (CGD), a congenital immunodeficiency affecting phagocyte function, remains a challenge for patients in Latin America. It is well established that dihydrorhodamine (DHR) flow cytometry is the most commonly used screening assay; however, few pediatric immunology centers in Brazil perform this test. This study reports data from a routine diagnostic workup for CGD conducted at a Brazilian children's hospital.
View Article and Find Full Text PDFMol Psychiatry
September 2025
Memory Center, Hospital Moinhos de Vento, Porto Alegre, RS, Brazil.
Blood-based biomarkers (BBMs) have emerged as promising tools to enhance Alzheimer's disease (AD) diagnosis. Despite two-thirds of dementia cases occurring in the Global South, research on BBMs has predominantly focused on populations from the Global North. This geographical disparity hinders our understanding of BBM performance in diverse populations.
View Article and Find Full Text PDFArq Neuropsiquiatr
September 2025
Universidade Federal do Pará, Instituto de Ciências Biológicas, Belém PR, Brazil.
Mercury intoxication poses a significant challenge and growing threat to public health, particularly in the Amazon region. Despite a known history of neurological damage, as evidenced by Japan's Minamata disease, mercury intoxication remains underdiagnosed in Brazil. This review underscores the need for increased clinical awareness among neurologists, as mercury exposure has been linked to over 250 neurological symptoms, including cognitive impairment, cerebellar ataxia, peripheral neuropathy, and psychiatric disturbances.
View Article and Find Full Text PDFArq Neuropsiquiatr
September 2025
Universidade de São Paulo, Faculdade de Medicina, Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, São Paulo SP, Brazil.
Williams syndrome (WS) is a genetic, multisystemic, and neurodevelopmental disorder. The prevalence of auditory hypersensitivity in WS is high, especially in childhood, with reports in the literature from 94 to 100% of individuals evaluated, which can generate significant impacts on their quality of life. Therefore, the existence of instruments for screening hyperacusis that are easy and quick to apply for use in clinical routine is essential.
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