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HIV-1 genetic diversity and resistance profile might change according to the risky sexual behavior of the host. To show this, we recruited 134 individuals between the years 2015 and 2017 identified as transgender women sex workers (TWSW, n = 73) and Heterosexual Military Officers (HET-MO, n = 61). After obtaining informed consent, we collected a blood sample to perform the HIV genotyping, CD4 cell count, and viral load. We used bioinformatics approaches for detecting resistance mutations and recombination events. Epidemiological data showed that both groups reported sexually transmitted diseases and they were widespread among TWSW, especially syphilis and herpes virus (35.6%). Illegal drugs consumption was higher among TWSW (71.2%), whereas condom use was inconsistent for both HET-MO (57.4%) and TWSW (74.0%). TWSW showed the shortest time exposition to antiretroviral therapy (ART) (3.5 years) and the lowest access to ART (34.2%) that conducted treatment failure (>4 logs). HIV-1 sequences from TWSW and HET-MO were analyzed to determine the genetic diversity and antiretroviral drug resistance. Phylogeny analysis revealed 125 (93%) cases of subtype B, 01 subtype A (0.76%), 07 (5.30%) BF recombinants, and 01 (0.76%) AG recombinant. Also, TWSW showed a higher recombination index (9.5%, 7/73) than HET-MO (1.5%, 1/68). HET-MO only showed acquired resistance (26.23%, 16/61), whereas TWSW showed both acquired as transmitted resistance (9.59% for each). In conclusion, TWSW and HET-MO showed significant differences considering the epidemiological characteristics, genetic diversity, recombination events, and HIV resistance profile.
Assuntos
Síndrome da Imunodeficiência Adquirida , Infecções por HIV , HIV-1 , Feminino , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , HIV-1/genética , Humanos , Peru/epidemiologia , Assunção de Riscos , Comportamento SexualRESUMO
The main aim of this research is to identify the transmitted resistance (RT) of the Human Immunodeficiency Virus (HIV) in subjects from nine cities of Peru. For this, a descriptive and cross-sectional study was carried out in 135 adult subjects who agreed to participate through an informed consent. Blood samples were collected to perform the CD4 / CD8 cell count, viral load and HIV Genotyping. Socio-epidemiological information was collected from the participants through surveys. The results revealed a RT frequency of 9.8% (13/132). The information from this research might help improve the intervention and monitoring programs for antiretroviral resistance in the country.
El estudio tuvo como objetivo determinar la resistencia transmitida (RT) del virus de la inmunodeficiencia humana (VIH) en pacientes procedentes de nueve departamentos del Perú. Para ello, se realizó un estudio descriptivo en 132 adultos que aceptaron participar mediante un consentimiento informado. Se colectaron muestras de sangre para realizar el recuento de células CD4/CD8, determinar la carga viral y la genotipificación del VIH. Se recabó información socioepidemiológica de los participantes mediante encuestas. Los resultados revelaron una frecuencia de RT de 9,8% (13/132). Los resultados del estudio ayudarán a mejorar los programas de intervención y monitoreo de la resistencia a los antirretrovirales en el país.
Assuntos
Infecções por HIV , HIV-1 , Adulto , Contagem de Linfócito CD4 , Estudos Transversais , Farmacorresistência Viral , Infecções por HIV/epidemiologia , Humanos , Peru/epidemiologia , Carga ViralRESUMO
RESUMEN El estudio tuvo como objetivo determinar la resistencia transmitida (RT) del virus de la inmunodeficiencia humana (VIH) en pacientes procedentes de nueve departamentos del Perú. Para ello, se realizó un estudio descriptivo en 132 adultos que aceptaron participar mediante un consentimiento informado. Se colectaron muestras de sangre para realizar el recuento de células CD4/CD8, determinar la carga viral y la genotipificación del VIH. Se recabó información socioepidemiológica de los participantes mediante encuestas. Los resultados revelaron una frecuencia de RT de 9,8% (13/132). Los resultados del estudio ayudarán a mejorar los programas de intervención y monitoreo de la resistencia a los antirretrovirales en el país.
ABSTRACT The main aim of this research is to identify the transmitted resistance (RT) of the Human Immunodeficiency Virus (HIV) in subjects from nine cities of Peru. For this, a descriptive and cross-sectional study was carried out in 135 adult subjects who agreed to participate through an informed consent. Blood samples were collected to perform the CD4 / CD8 cell count, viral load and HIV Genotyping. Socio-epidemiological information was collected from the participants through surveys. The results revealed a RT frequency of 9.8% (13/132). The information from this research might help improve the intervention and monitoring programs for antiretroviral resistance in the country.
Assuntos
Masculino , Feminino , Peru , Resistência a Medicamentos , HIV , Antirretrovirais , Política Pública , Educação Sexual , Inquéritos e Questionários , GenótipoRESUMO
INTRODUCTION: Clinical genomics promise to be especially suitable for the study of etiologically heterogeneous conditions such as Autism Spectrum Disorder (ASD). Here we present three siblings with ASD where we evaluated the usefulness of Whole Genome Sequencing (WGS) for the diagnostic approach to ASD. METHODS: We identified a family segregating ASD in three siblings with an unidentified cause. We performed WGS in the three probands and used a state-of-the-art comprehensive bioinformatic analysis pipeline and prioritized the identified variants located in genes likely to be related to ASD. We validated the finding by Sanger sequencing in the probands and their parents. RESULTS: Three male siblings presented a syndrome characterized by severe intellectual disability, absence of language, autism spectrum symptoms and epilepsy with negative family history for mental retardation, language disorders, ASD or other psychiatric disorders. We found germline mosaicism for a heterozygous deletion of a cytosine in the exon 21 of the SHANK3 gene, resulting in a missense sequence of 5 codons followed by a premature stop codon (NM_033517:c.3259_3259delC, p.Ser1088Profs*6). CONCLUSIONS: We reported an infrequent form of familial ASD where WGS proved useful in the clinic. We identified a mutation in SHANK3 that underscores its relevance in Autism Spectrum Disorder.
Assuntos
Transtorno do Espectro Autista/genética , Análise Mutacional de DNA , Genômica , Mutação , Proteínas do Tecido Nervoso/genética , Linhagem , Sequência de Bases , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Mosaicismo , IrmãosRESUMO
In order to determine the prevalence of sexually transmitted infections (STI) in recluse women of Chorrillos Penitentiary I in the city of Lima, Peru, a cross-sectional study was performed, including a simple random sample of women between ages 18 and 54, from whom 180 serum samples and 168 samples of cervical and vaginal discharge were analyzed. The most prevalent etiologic agents identified from cervical and vaginal discharge samples were Chlamydia trachomatis in 42.3%, Gardnerella vaginalis in 24.4% and Trichomonas vaginalis in 10.1% and for serum samples the most prevalent were syphilis and HIV, both in 2.2%. We conclude that there is a high prevalence of sexually transmitted infections in recluse women of Chorrillos Penitentiary I in the city of Lima, Peru. There should be routine screenings established for diagnosis and treatment of STIs within the prison system and this population should be included in the sexual and reproductive health programs.
Assuntos
Prisioneiros , Infecções Sexualmente Transmissíveis/epidemiologia , Adulto , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Peru , Prevalência , Adulto JovemRESUMO
Helicobacter pylori colonizes the human gastric mucosa, leading to a spectrum of gastric diseases in susceptible populations. Here we announce the draft genome sequences of strains HPARG8G and HPARG63. The data for both genome sequences provide insights regarding the diversity in gene content and rearrangement of the genomic islands commonly harbored by H. pylori.
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A continuación presentamos el caso de una paciente embarazada de 36 semanas que cursa con preeclampsia grave y evoluciona con síndrome HELLP complicado con ruptura hepática; realizando una revisión bibliográfica sobre dicha patología.
The case of a 36-week pregnant patient with severe preeclampsia and HELLP (H, hemolysis; EL, elevated liver enzymes; LP, low platelet count) syndrome evolution with liver rupture and a bibliographic review on such pathology are presented.
Assuntos
Feminino , Gravidez , Adulto , Pré-Eclâmpsia , Síndrome HELLP , Gravidez , HipertensãoRESUMO
HIV-1 subtype B is the most frequent strain in Peru. However, there is no available data about the genetic diversity of HIV-infected patients receiving highly active antiretroviral therapy (HAART) here. A group of 267 patients in the Peruvian National Treatment Program with virologic failure were tested for genotypic evidence of HIV drug resistance at the Instituto Nacional de Salud (INS) of Peru between March 2008 and December 2010. Viral RNA was extracted from plasma and the segments of the protease (PR) and reverse transcriptase (RT) genes were amplified by reverse transcriptase polymerase chain reaction (RT-PCR), purified, and fully sequenced. Consensus sequences were submitted to the HIVdb Genotypic Resistance Interpretation Algorithm Database from Stanford University, and then aligned using Clustal X v.2.0 to generate a phylogenetic tree using the maximum likelihood method. Intrasubtype and intersubtype recombination analyses were performed using the SCUEAL program (Subtype Classification by Evolutionary ALgo-rithms). A total of 245 samples (91%) were successfully genotyped. The analysis obtained from the HIVdb program showed 81.5% resistance cases (n=198). The phylogenetic analysis revealed that subtype B was predominant in the population (98.8%), except for new cases of A, C, and H subtypes (n=4). Of these cases, only subtype C was imported. Likewise, recombination analysis revealed nine intersubtype and 20 intrasubtype recombinant cases. This is the first report of the presence of HIV-1 subtypes C and H in Peru. The introduction of new subtypes and circulating recombinants forms can make it difficult to distinguish resistance profiles in patients and consequently affect future treatment strategies against HIV in this country.
Assuntos
Terapia Antirretroviral de Alta Atividade/métodos , Variação Genética , Infecções por HIV/tratamento farmacológico , Infecções por HIV/virologia , HIV-1/classificação , Recombinação Genética , Adolescente , Adulto , Idoso , Farmacorresistência Viral , Feminino , Genótipo , Protease de HIV/genética , Transcriptase Reversa do HIV/genética , HIV-1/efeitos dos fármacos , HIV-1/genética , HIV-1/isolamento & purificação , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Peru , Plasma/virologia , RNA Viral/genética , RNA Viral/isolamento & purificação , Análise de Sequência de DNA , Adulto JovemRESUMO
Desde 1990 en el INS Perú se viene utilizando la técnica de Western Blot (WB) para la confirmación del Diagnóstico de VIH. En este estudio se evalua la prueba de inmunofluorescencia indirecta (IFI) como una alternativa de confirmación al Western Blot. Se utilizaron 132 sueros de la seroteca de la División de Virología del INS Perú con diagnóstico previo de VIH por WB. Para el diagnóstico de IFI se usó un kit producido en el Centro Nacional de Referencia de SIDA (Chile-Argentina). De los 132 sueros procesados 56 (42,4) correspondieron a Western Blot positivo, 52 (39,4) a Western Blot negativos y 24 (18,2) con Western Blot indeterminado. La sensibilidad y especificidad de la técnica IFI en comparación con la de Western Blot fue de 98,2 y 98 respectivamente. Los valores predictivo positivo y negativo fueron 98,2 y 100, respectivamente. Estos resultados permiten incorporar a la técnica de IFI como una prueba alternativa para la confirmación de diagnóstico de infección por VIH