Publications by authors named "Renato Pires"
Article Synopsis
- Congenital heart disease (CHD) is a prevalent birth defect, making up about 30% of congenital abnormalities, prompting a study on the impact of consanguinity on its occurrence in São Miguel, Portugal.
- The research involved a retrospective analysis of 112 CHD patients, evaluating family types, parental consanguinity, and using genetic markers to estimate inbreeding coefficients.
- Findings indicated a high prevalence of multiplex families (37.6%) and consanguineous unions (9.2%), along with elevated inbreeding coefficients among affected individuals, highlighting the role of familial ties in CHD cases on the island.
Article Synopsis
- The 22q11.2 chromosomal region is linked to multiple congenital anomaly disorders, with deletions leading to DiGeorge/Velocardiofacial syndrome presenting distinct features like heart defects and cognitive delays, while duplications show more variable and milder symptoms.
- Two case studies are presented: Patient 1, a 24-year-old with a 22q11.2 duplication, exhibited a heart defect and hyperdontia—an unusual feature for this condition, while her twin had a different heart issue.
- Patient 2, a 20-year-old with a triplication, displayed a more severe phenotype with multiple heart defects and facial malformations, highlighting the need for awareness and further investigation into these less-recognized duplications
Article Synopsis
- Researchers studied the genetic factors contributing to congenital heart disease (CHD) in 87 patients from São Miguel Island, focusing on the 22q11.2 chromosomal region linked to deletion and microduplication syndromes.
- They discovered that 4.6% of the patients had copy number variants (CNVs), with specific alterations resulting in various heart defects and some associated with additional features like cognitive deficits and facial dysmorphism.
- This study emphasizes the importance of identifying rare genetic abnormalities in CHD patients, contributing to a better understanding of the genetic basis of these conditions in the Azores.
We describe 66 ciprofloxacin-nonsusceptible Streptococcus pyogenes isolates recovered from colonized and infected children. The ParC S79A substitution was frequent and associated with the emm6/sequence type 382 (emm6/ST382) lineage. The ParC D83G substitution was detected in two isolates (emm5/ST99 and emm28/ST52 lineages).
View Article and Find Full Text PDFDuring 2000-2007 in Lisbon, we identified 45 bacitracin-resistant Streptococcus pyogenes isolates among 1629 isolates: 24 from oropharyngeal healthy carriers (out of 1026), 21 from patients with noninvasive infections (out of 559) and zero from invasive infections (out of 44). Forty-four of those isolates, mainly of colonization, are low-level bacitracin-resistant members of the cMLS(B)-macrolide-resistant and tetracycline-susceptible emm28/ST52 clone previously detected in Europe, but only among clinical samples. One high-level bacitracin-resistant isolate, associated with a tonsillitis/pharyngitis episode, is cMLS(B)-macrolide-resistant and tetracycline-resistant member of the emm74/ST120 lineage, which was not previously known to include bacitracin-resistant isolates.
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