A5081167690- Prenatal Screening and Diagnostics
- Sperm and Testicular Function
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Reproductive Biology and Fertility
- Cystic Fibrosis Research Advances
- Glycosylation and Glycoproteins Research
- Sexual Differentiation and Disorders
- Renal and related cancers
- Epigenetics and DNA Methylation
- Neonatal Respiratory Health Research
- Genetic Syndromes and Imprinting
- Helicobacter pylori-related gastroenterology studies
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Intracerebral and Subarachnoid Hemorrhage Research
- Acute Ischemic Stroke Management
- Tracheal and airway disorders
- Congenital Anomalies and Fetal Surgery
- Hormonal and reproductive studies
- Fetal and Pediatric Neurological Disorders
- Digestive system and related health
- Carbohydrate Chemistry and Synthesis
- CRISPR and Genetic Engineering
- Parvovirus B19 Infection Studies
- Cell Adhesion Molecules Research
- Platelet Disorders and Treatments
Universidade Federal do Piauí
2025
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2016-2024
Universidade do Porto
2015-2024
Centro de Genética Clínica
2008-2024
Beth Israel Deaconess Medical Center
2022-2024
Harvard University
2022-2024
Rede de Química e Tecnologia
2023
Hadassah Medical Center
2023
University of Oklahoma
2023
Hospital Braga
2023
Susceptibility to a clinically significant drug hypersensitivity syndrome associated with abacavir use seems have strong genetic component. We previously shown that the presence of HLA-B * 5701 strongly predicts and identified potential susceptibility locus within 300-kb region between MEGT1 C4A6 loci in central MHC. now report results fine recombinant mapping an expanded patient population 248 consecutive, fully ascertained, abacavir-exposed individuals Western Australian HIV Cohort Study,...
Genomic imprinting marks in the male germ line are already established adult germinal stem cell population. We studied methylation patterns of H19 and MEST imprinted genes sperm control oligozoospermic patients, by bisulphite genomic sequencing. here report that 7 out 15 (46.7%) patients with a count below 10 × 106/ml display defective and/or genes. In these cases, hypomethylation was observed 5.54% (1.2–8.3%) complete unmethylation 2.95% (0–5.9%) clones. Similarly, for CTCF-binding site 6,...
Abstract De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de an important severe male infertility and explain portion of the genetic causes this understudied disorder. To test hypothesis, we utilize trio-based exome sequencing cohort 185 infertile males their unaffected parents. Following systematic analysis, 29 145 rare (MAF < 0.1%) protein-altering classified as possibly causative phenotype. observed significant...
Gonadal failure, along with early pregnancy loss and perinatal death, may be an important filter that limits the propagation of harmful mutations in human population. We hypothesized men spermatogenic impairment, a disease unknown genetic architecture common cause male infertility, are enriched for rare deleterious compared to normal spermatogenesis. After assaying genomewide SNPs CNVs 323 Caucasian idiopathic impairment more than 1,100 controls, we estimate each autosomal deletion detected...
The field of preimplantation genetic testing (PGT) is evolving fast, and best practice advice essential for regulation standardisation diagnostic testing. previous ESHRE guidelines on diagnosis, published in 2005 2011, are considered outdated the development new papers outlining recommendations good PGT was necessary. current updated version is, similar to 2011 version, split into four documents, one which covers organisation a centre. other documents focus different technical aspects embryo...
AbstractPaternal imprinting marks were shown to be erased in the mouse primordial germ cells and progressively re-established throughout male line development, starting fetal prospermatogonia continuing post-natally through onset of meiosis. We here evaluated human adult spermatogenic analyzed mRNA protein expression DNA Methyltransferases (DNMTs). Spermatogonia A, primary secondary spermatocytes, round spermatids elongated spermatids/spermatozoa isolated by micromanipulation from testicular...
The field of preimplantation genetic testing (PGT) is evolving fast and best practice advice essential for regulation standardisation diagnostic testing. previous ESHRE guidelines on PGD, published in 2005 2011, are considered outdated, the development new papers outlining recommendations good PGT was necessary. current paper provides technical aspects monogenic/single-gene defects (PGT-M) covers basic methods PGT-M strategies. Furthermore, some specific formulated special cases, including
Problem Sexually transmitted diseases and other infections of male genitourinary tract are thought to negatively impact reproductive health, affecting semen quality. Despite a possible link between bacteria infertility, few studies attempted characterize seminal microbiota in healthy diseased subjects. Methods the study A high‐throughput sequencing 16S ribosomal RNA gene was performed cohort infertility‐related cases (N = 89) controls 29) using pooled sample approach. Results global...
Male infertility affects ∼7% of men, but its causes remain poorly understood. The most severe form is non-obstructive azoospermia (NOA), which is, in part, caused by an arrest at meiosis. So far, only a few validated disease-associated genes have been reported. To address this gap, we performed whole-exome sequencing 58 men with unexplained meiotic and identified the same homozygous frameshift variant c.676dup (p.Trp226LeufsTer4) M1AP, encoding meiosis 1 associated protein, three unrelated...
P-element-induced wimpy testis (PIWI)-interacting RNAs (piRNAs) are short (21 to 35 nucleotides in length) and noncoding found almost exclusively germ cells, where they regulate aberrant expression of transposable elements postmeiotic gene expression. Critical the processing piRNAs is protein poly(A)-specific RNase-like domain containing 1 (PNLDC1), which trims their 3' ends and, when disrupted mice, causes azoospermia male infertility.We performed exome sequencing on DNA samples from 924...
Abstract STUDY QUESTION What are the trends and developments in pre-implantation genetic testing (PGT) 2016–2017 as compared to previous years? SUMMARY ANSWER The main observed this 19th 20th data set on PGT that trophectoderm biopsy has become stage for aneuploidies (PGT-A) implementation of comprehensive technologies is most advanced with PGT-A. WHAT IS KNOWN ALREADY Since it was established 1997, ESHRE Consortium been collecting analysing from mainly European centres. To date, 18 sets an...
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining genetic basis NOA has proven challenging, advanced classification subforms not based on genetics, but simple description testis histology. In this study, we exome-sequenced over 1000 clinically diagnosed cases identified a plausible recessive Mendelian cause in 20%. We find further support for 21 genes 2-stage burden test with 2072 11,587 fertile controls. The disrupted are...
ABSTRACT STUDY QUESTION What are the trends and developments in preimplantation genetic testing (PGT) 2018 as compared to previous years? SUMMARY ANSWER The main observed this 21st dataset on PGT that implementation of trophectoderm biopsy with comprehensive whole-genome is most often applied for PGT-A concurrent PGT-M/SR/A, while PGT-M PGT-SR, single-cell PCR FISH still prevail. WHAT IS KNOWN ALREADY Since it was established 1997, ESHRE Consortium has been collecting analysing data from...
To investigate the expression of MUC6 mucin in gastric carcinomas, we generated a novel monoclonal antibody (MAb CLH5) using an synthetic peptide. MAb CLH5 reacted exclusively with peptide and native deglycosylated extracts from tissues. immunoreactivity was observed normal mucosa restricted to pyloric glands antrum mucopeptic cells neck zone body region. In series 104 31 (29.8%) were immunoreactive for MUC6. The not associated histomorphological type or clinicopathological features...
Summary The aim of this work was to present the clinical and embryological outcomes 65 azoospermic patients with non‐mosaic K linefelter syndrome ( KS ), treated by testicular sperm extraction TESE followed intracytoplasmic injection ICSI either fresh or cryopreserved spermatozoa. In total, spermatozoa were recovered in 25/65 (38.5%) cases. Of 48 who choose perform using (treatment 19 (40%), birth 12 newborn. 17 cryopreservation, six (35%), one child. performed treatment , nine went for a...
Abstract STUDY QUESTION What are the trends and developments in preimplantation genetic testing (PGT) 2013–2015 as compared to previous years? SUMMARY ANSWER The main observed retrospective data collections 2013–2015, representing valuable on PGT activity (mainly) Europe, increased application of trophectoderm biopsy at cost cleavage stage continuing expansion comprehensive technology for chromosomal structural rearrangements aneuploidies (PGT-SR PGT-A). WHAT IS KNOWN ALREADY Since it was...
This experiment evaluated the effects of including buriti oil (BO) in diet broilers on growth performance, nutrient digestibility, carcass yield, meat quality, blood parameters, intestinal morphometry, proliferation collagen fibers skin and concentration breast muscle. A total 180 one-day-old Ross male chicks were distributed a completely randomized experimental design with three treatments (0%, 1% 2% BO) six replications 10 birds each. Nutrient digestibility was from 8 to 21 days, while cut...
Introduction: Cerebral small vessel disease (CSVD) is a major cause of primary lobar intracerebral hemorrhage (ICH) due to cerebral amyloid angiopathy (CAA) or hypertensive arteriopathy (HA). Sex differences in CSVD imaging markers and prevalence CAA vs HA ICH remain unexplored. Methods: We performed retrospective analysis patients with who underwent MRI during hospitalization. collected demographic, clinical, outcome data. reviewed MRIs for calculated composite burden score (cCSVDbs)....