Congenital infections (syphilis and human immunodeficiency virus) in a federal hospital in Rio de Janeiro / Infecções congênitas (sífilis e vírus da imunodeficiência humana) em hospital federal no Rio de Janeiro

Introduction: Congenital infections are related to a higher risk of morbidity and mortality in the neonatal period and can cause serious complications in the newborn. Among the sexually transmitted infections (IST) present in this group, syphilis and vertical exposure to the human immunodeficiency virus (HIV) are still a challenge in the 21st century. Objective: To evaluate the prevalence of congenital syphilis and exposure to HIV among congenital infections. Methods: Cross-sectional, analytical study with data collected from medical records of newborns admitted to the Conventional Neonatal Intermediate Care Unit, Kangaroo and Joint Accommodation, in the database of the service of the Federal Hospital from Bonsucesso, from January 2015 to December 2018. Results: During the study, 2,202 newborns were discharged from the hospital and 474 were positive for congenital infection (21.8%). In cases of congenital infection, congenital syphilis (398­84%) and maternal HIV infection (40­8,4%) were the most frequently encountered clinical situations. The relationship between prenatal care and the absence of congenital infection was evident. Among the newborns, 117 (5.3%) were premature, 352 (16.3%) were older than 37 weeks and 95 (23.7%) had low birth weight. Conclusion: Congenital infection was one of the main causes of neonatal morbidity; syphilis and HIV had the highest prevalence, being associated with reducible deaths when adequate care is provided for women during pregnancy. Perinatology services demand a great effort in order to manage these avoidable and undesirable situations.

Introdução: As infecções congênitas estão relacionadas a um risco mais elevado de morbimortalidade no período neonatal e geram sérias complicações no recém-nascido. Dentre as infecções sexualmente transmitidas (IST) presentes nesse grupo, a sífilis e a exposição vertical ao vírus da imunodeficiência humana (HIV) ainda são um desafio em pleno século XXI. Objetivo: Avaliar a prevalência da sífilis congênita e exposição ao HIV entre as infecções congênitas. Métodos: Estudo de corte transversal e analítico, com dados coletados nos prontuários de alta dos recém-nascidos que ficaram internados na Unidade de Cuidado Intermediário Neonatal Convencional, Canguru e Alojamento Conjunto, no banco de dados do Serviço do Hospital Federal de Bonsucesso, de janeiro de 2015 a dezembro de 2018. Resultados: No período do estudo, 2.202 recém-nascidos receberam alta hospitalar e 474 apresentaram positividade para infecção congênita (21,8%). Nos quadros de infecção congênita, a sífilis congênita (398­84,0% dos casos) e a infecção materna pelo HIV (40­8,4%) foram as situações clínicas mais frequentemente encontradas. Ficou evidente a relação entre a realização do pré-natal e a ausência de infecção congênita. Desses recém-nascidos, 117 (5,3%) foram prematuros, 352 (16,3%) tinham mais de 37 semanas e 95 (23,7%) tinham peso abaixo de 2.500 g. Conclusão: A infecção congênita foi uma das principais causas de morbidade neonatal; a sífilis e o HIV tiveram as maiores prevalências, estando associados às mortes redutíveis por adequada atenção à mulher na gestação. Os serviços de perinatologia demandam um grande esforço para atender essas situações evitáveis e indesejáveis.

Toll-like receptor 9 gene in Periodontal Disease - A promising biomarker.

Periodontal Disease is an infectious and inflammatory disorder triggered mainly by periodontopathogenic bacteria, however, as a multifactorial disease, several factors modulate its progression, namely, genetic factors. Toll-like receptors (TLR) recognize molecular patterns present in pathogens and trigger an immune response against them. Thus, sequences variants in TLR genes seem to have the potential to modify the predisposition to Periodontal Disease and its progression. Based on this fact, TLR9 gene were analysed in a case-control study. DNA was obtained from 90 dogs (50 control and 40 cases) and a fragment of TLR9 gene was amplified by PCR and sequenced. The variants were identified by comparison with the dog wild type sequences. Our results suggest that rs375556098 and rs201959275 polymorphisms in the TLR9 gene are good candidates to become biomarkers of the canine predisposition to Periodontal Disease. It's important to notice that these polymorphic sites exist in Human exactly in the same codon. Since the dog is the best animal model to replicate the pathophysiological mechanisms of human Periodontal Disease, these results can potentially be extrapolated to humans.

A genetic overview of Atlantic coastal populations from Europe and North-West Africa based on a 17 X-STR panel.

The forensic use of X-STRs requires the creation of allele and haplotype frequency databases in the populations where they are going to be used. Recently, an updated Spanish allele and haplotype frequency database for the new 17 X-STR panel has been created, being the only database available up to now for this new multiplex. In order to broaden the forensic applicability of the 17 X-STR panel, 513 individuals from four different populations located on the Atlantic Coast of Europe and North-West Africa have been studied, i.e. Brittany (France), Ireland, northern Portugal, and Casablanca (Morocco). Allele and haplotype frequency databases, as well as parameters of forensic interest for these populations are presented. The obtained results showed that the 17 X-STR panel constitutes a highly discriminative tool for forensic identification and kinship testing in the studied populations. Furthermore, we aimed to study if these populations located on the Atlantic coast actually share alike allele and haplotype frequency distributions since they have experienced genetic exchanges throughout history. This would allow creating larger forensic databases that include several genetically similar populations for its use in forensic casework. For this purpose, pairwise FST genetic distances between the analyzed populations and others from the Atlantic Coast previously studied with the 17 X-STR panel or the ten coincident markers included in the decaplex of the GHEP-ISFG were estimated. Our results suggest that certain nearby populations located on the European Atlantic coast could have underwent episodes of genetic interchange as they have not shown statistically significant differentiation between them. However, the population of Casablanca showed significant differentiation with the majority of the European populations. Likewise, the autochthonous Basque Country and Brittany populations have shown distinctive allele frequency distributions between them. Therefore, these findings seem to support that the use of independent allele and haplotype frequency databases for each population instead of a global database would be more appropriate for forensic purposes.

Technical Note: "Mitochondrial and nuclear DNA approaches for reliable identification of Lucilia (Diptera, Calliphoridae) species of forensic interest from Southern Europe".

In forensic entomology, rapid and unambiguous identification of blowfly species is a critical prerequisite for accurately estimating the post-mortem interval (PMI). The conventional diagnosis of cadaveric entomofauna based on external characters is hampered by the morphological similarities between species, especially in immature stages. Genetic analysis has been shown to allow precise and reliable diagnosis and delimitation of insect species. Nevertheless, the taxonomy of some species remains unresolved. This study was focused on improving the effectiveness and accuracy of analysis based on the widely used cytochrome c oxidase subunit I barcode region (COI barcode, 658 bp), complemented by other mitochondrial and nuclear regions, such as cytochrome b (Cyt-b, 307 bp) and the second internal transcribed spacer (ITS2, 310-331 bp), for the identification of Southern European blowflies. We analyzed a total of 209 specimens, collected from 38 human corpses, belonging to three Calliphoridae genera and seven species: Chrysomya (Ch. albiceps), Calliphora (C. vicina and C. vomitoria), and Lucilia (L. sericata, L. ampullacea, L. caesar and L. illustris). These species are the most common PMI indicators in Portugal. The results revealed that unambiguous separation of species of the Lucilia genus requires different loci from the barcode region. Furthermore, we conclude that the ITS2 (310-331 bp) molecular marker is a promising diagnostic tool because its inter-specific discriminatory power enables unequivocal and consistent distinctions to be made, even between closely related species (L. caesar-L. illustris). This work also contributes new genetic data that may be of interest in performing species diagnosis for Southern European blowflies. Notably, to the best of our knowledge, we provide the first records of the Cyt-b (307 bp) locus for L. illustris and the ITS2 (310-331 bp) region for Iberian Peninsula Lucilia species.

Cytochrome b as a useful tool for the identification of blowflies of forensic interest (Diptera, Calliphoridae).

In Forensic Entomology the fast and accurate identification of insects collected at the scene of events is essential if errors are to be avoided in estimating infestation times of interest and determining the post-mortem interval (PMI). Traditional identification based on morphological characteristics can be complicated due to physical similarities between different species, especially at immature stages. Genetic analysis provides a fast and reliable identification method. In this paper, molecular analysis is focused on a fragment of 307bp of the mitochondrial DNA region that codes for cytochrome b (cyt b). Six species belonging three genera of Calliphoridae of forensic interest (Calliphora vicina, Calliphora vomitoria, Lucilia sericata, Lucilia caesar, Lucilia ampullacea, Chrysomya albiceps) were collected and identified. These are the most common species of cadaveric entomofauna on the Atlantic seaboard of the Iberian Peninsula. The results show the robustness of the cyt b locus as a diagnostic tool, since its nucleotide variability enables reliable distinctions to be drawn between species. This study also contributes new consense sequences which may be of interest for correct species identification.

Y-chromosomal STR haplotype diversity in males from Santa Catarina, Brazil.

One-hundred and nine unrelated and healthy males from Santa Catarina, Brazil were included in this study. Allele frequencies and gene diversities for the loci DYS456, DYS458 and DYS448 were calculated. A comparison between our population and others was performed.

Analysis of 10 X-linked tetranucleotide markers in mixed and isolated populations.

We have applied a recently described X-STRs decaplex to characterize four population groups of the Iberian Peninsula, including two well mixed populations and two relatively isolated ones from Northern Spain, in order to get a better insight about the characteristics of X-STRs in those population types between-population differences in allelic frequencies were relatively small. Nevertheless, Fst values were between 0.2 and 2.7%, figures higher than usually reported for autosomic STRs. This result suggests that when forensic cases originate from relatively isolated groups in western Europe, and a specific reference database is not available, it is probably safe to include a Fst-based correction in the calculations of matching or kinship probabilities.

A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: data on 15 Iberian and Latin American populations.

In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, Córdoba, Río Negro, Entre Ríos, and Misiones), Brazil (São Paulo, Rio de Janeiro, Paraná, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (> or =1 in 5 x 10(5)) and females (> or =1 in 3 x 10(9)), as well as high mean exclusion chance in father/daughter duos (> or =99.953%) and in father/mother/daughter trios (> or =99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between São Paulo and Paraná. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Ríos and with Río Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Río Negro.

DNA typing of Diptera collected from human corpses in Portugal.

Medico-legal entomology, one area in the broad field of entomology, is routinely used in forensic applications. Insects are often collected from a corpse during criminal information related to the body, but requires the fast and accurate identification of the species attracted to the remains. The local entomofauna in most cases is important for explaining entomological evidence. The survey of the local entomofauna has become a fundamental first step in forensic entomological studies, because different geographical distributions, seasonal and environmental factors may influence the decomposition process and the occurrence of different species on corpses. A morphological and DNA-based methods for species identification were used in this study. Thirty-two cases are reported from indoors and outdoors conditions. Specimens were collected from corpses during autopsy procedures in the National Institute of Legal Medicine, Portugal, and cases were summarized by sex, death local, month of discovery, probable cause of death, species found and number of analyzed specimens. Just eight species, mainly Calliphoridae together with one Sarcophagidae were reported from corpses. The DNA sequencing was performed to study the mitochondrial encoded subunit I of the cytochrome oxidase gene. The aim of this work was the beginning of a database of the cadaveric entomofauna in Portugal.

Genetic data of 4 X-chromosomal short tandem repeats in a North of Portugal population.

POPULATION: One hundred unrelated females and 100 unrelated males, autochthonous, healthy, from the North of Portugal.

Genetic data of four X-chromosomal STRs in a population sample of Santa Catarina, Brazil.

POPULATION: A total of 184 healthy unrelated individuals (70 females and 114 males), autochthonous from Santa Catarina, Brazil.