RESUMEN
Dynamic mutations in the 5' untranslated region of FMR1 are associated with infertility. Premutation alleles interfere with prenatal development and increase infertility risks. The number of CGG repeats that causes the highest decrease in ovarian reserves remains unclear. We evaluated the effect of FMR1 CGG repeat lengths on ovarian reserves and in vitro fertilization (IVF) treatment outcomes in 272 women with alleles within the normal range. FMR1 CGG repeat length was investigated via PCR and capillary electrophoresis. Alleles were classified as low-normal, normal, and high-normal. Serum levels of follicle-stimulating hormone and anti-Mullerian hormone (AMH) in the follicular phase of the menstrual cycle were measured, and antral follicles (AFC) were counted. IVF outcomes were collected from medical records. Regarding FMR1 CGG repeat length alleles, 63.2% of women presented at least one low-normal allele. Those carrying low-normal alleles had significantly lower AMH levels than women carrying normal or high-normal alleles. Low-normal/low-normal genotype was the most frequent, followed by low-normal/normal and normal/normal. A comparison of ovarian reserve markers and reproductive outcomes of the three most frequent genotypes revealed that AFC in the low-normal/normal genotype was significantly lower than the low-normal/low-normal genotype. The low number of FMR1 CGG repeats affected AMH levels and AFC but not IVF outcomes per cycle of treatment.
Asunto(s)
Hormona Antimülleriana , Fertilización In Vitro , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil , Reserva Ovárica , Humanos , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil/genética , Femenino , Fertilización In Vitro/métodos , Reserva Ovárica/genética , Adulto , Estudios Transversales , Hormona Antimülleriana/genética , Hormona Antimülleriana/sangre , Fertilidad/genética , Infertilidad Femenina/genética , Infertilidad Femenina/terapia , Alelos , Repeticiones de Trinucleótidos/genética , Expansión de Repetición de Trinucleótido/genética , Guanina , EmbarazoRESUMEN
ABSTRACT Brazil experienced one of the fastest increasing numbers of coronavirus disease (COVID-19) cases worldwide. The Sao Paulo State (SPS) reported a high incidence, particularly in Sao Paulo municipality. This study aimed to identify clusters of incidence and mortality of hospitalized patients with severe acute respiratory syndrome for COVID-19 in the SPS, in 2020-2021, and describe the origin flow pattern of the cases. Cases and mortality risk area clusters were identified through different analyses (spatial clusters, spatio-temporal clusters, and spatial variation in temporal trends) by weighting areas. Ripley's K12-function verified the spatial dependence between the cases and infrastructure. There were 517,935 reported cases, with 152,128 cases resulting in death. Of the 470,441 patients hospitalized and residing in the SPS, 357,526 remained in the original municipality, while 112,915 did not. Cases and death clusters were identified in the Sao Paulo metropolitan region (SPMR) and Baixada Santista region in the first study period, and in the SPMR and the Campinas, Sao Jose do Rio Preto, Barretos, and Sorocaba municipalities during the second period. We highlight the priority areas for control and surveillance actions for COVID-19, which could lead to better outcomes in future outbreaks.
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ABSTRACT Objective The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A case-control analysis was performed, aiming to investigate the possible relationship between this variant and the development and/or progression of endometriosis. Methods This study included 326 women with endometriosis and 482 controls without endometriosis, both confirmed by inspection of the pelvic cavity during surgery. Genotyping was performed using a TaqMan real-time polymerase chain reaction assay. Genotype and allele frequencies and genetic models were compared between the groups. Results The genotype and allele frequencies of the rs10835638 variant did not differ between women with and those without endometriosis. Subdividing the endometriosis group into fertile and infertile groups did not result in a significant difference in these frequencies. However, the subgroup with minimal/mild endometriosis had a higher frequency of the GT genotype than the Control Group, regardless of fertility. The T allele was significantly more common in women with minimal/mild endometriosis than in the Control Group in the recessive model. Conclusion The T allele is associated with the development of minimal/mild endometriosis in Brazilian women.
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From February 26, 2020 to March 11, 2021, coronavirus disease 2019 (COVID-19) pandemic resulted in 11,439,558 cases and 277,102 deaths in Brazil. Among them, 2,195,130 cases and 63,965 deaths occurred in Sao Paulo State, Southeast Brazil. The recent emergence and rise of new variants of SARS-CoV-2 is of concern because of their higher transmissibility and possible association with more severe disease. Cases of SARS-CoV-2 reinfections have been described since December 2020 in Brazil. This report describes two cases of COVID-19 reinfection, that occurred five and six months after the first infection, during the second wave of the pandemic in Sao Paulo State. Both patients presented mild symptoms in the two COVID-19 episodes and different lineages of SARS-CoV-2 were identified: B.1.1.33 and B.1.1.28 lineages in case 1 and B1.1.128 and P. 2 lineages in case 2.
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Informe de Investigación , Reinfección , SARS-CoV-2RESUMEN
RESUMO: Objetivo: Descrever, de forma retrospectiva, os casos graves de pacientes hospitalizados e os óbitos relacionados à epidemia de COVID-19 no estado de São Paulo, desde a data do primeiro registro, com início de sintomas em 10 de fevereiro de 2020 até registros disponíveis em 20 de maio de 2021. Métodos: Trata-se de um estudo descritivo realizado por meio da base de dados do Sistema de Vigilância Epidemiológica da Gripe. Foram calculadas as taxas de incidência, mortalidade e incidência acumulada no período, estratificadas por faixa etária e agrupadas de acordo com cada Departamento Regional de Saúde. Os casos graves foram geocodificados para a análise de seu espalhamento pelo estado e foi calculado o R efetivo, que estima o potencial de propagação de um vírus em uma população. Resultados: Houve aumento significativo dos casos graves e óbitos registrados no período de um ano, e as taxas de incidência e mortalidade foram heterogêneas no estado. Os períodos mais críticos em relação à incidência de casos graves ocorreram entre maio e julho de 2020 e entre março e abril de 2021. Os Departamentos Regionais de Saúde de São José do Rio Preto, Grande São Paulo e Araçatuba concentraram as maiores taxas de incidência e mortalidade. Os casos graves e óbitos foram mais frequentes nos homens e na população acima de 60 anos, e as principais condições de risco relacionadas aos óbitos foram cardiopatia (59%) e diabetes (42,8%). Conclusões: Espera-se que esses resultados ofereçam embasamento e possam contribuir para uma ação de controle mais eficiente da COVID-19, além de permitir o entendimento histórico de sua evolução no estado.
ABSTRACT: Objectives: To retrospectively describe severe cases of hospitalized patients and deaths related to the COVID-19 epidemic in the state of São Paulo, starting from the date of the first record, with symptoms onset on 02/10/2020 up to 05/20/2021. Methods: This is a descriptive study carried out using the Influenza Epidemiological Surveillance System (Sistema de Vigilância Epidemiológica da Gripe - SIVEP-Gripe) database. The rates of incidence, mortality, and accumulated incidence in the period were calculated, stratified by age group and Regional Health Department (RHD). In addition, severe cases were geocoded to analyze their spread across the state; and the Effective R, which determines the spread potential of a virus within a population, was calculated. Results: There was a significant increase in severe cases and deaths recorded in the period of one year, with incidence and mortality rates being heterogeneous within the state. The most critical periods regarding the incidence of severe cases occurred between May and July 2020 and between March and April 2021. The RHD in São José do Rio Preto, Expanded São Paulo, and Araçatuba concentrated the highest incidence and mortality rates. Severe cases and deaths were more frequent in men and in the population over 60 years, while the main risk conditions related to deaths were heart disease (59%) and diabetes (42,8%). Conclusions: These results not only provide a detailed profile for more efficient control action plan, but will also allow the historical understanding of the COVID-19 evolution within the state of São Paulo.
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Humanos , Masculino , Brasil , Estudios Retrospectivos , Pandemias , SARS-CoV-2 , COVID-19RESUMEN
Long-term care facilities for older adults present a high risk of outbreaks since they concentrate often more frail and vulnerable individuals. OBJECTIVE: To describe the epidemiological characteristics of influenza-like illness outbreaks and cases among older people in long-term care facilities in the state of São Paulo, Brazil. METODS: The analysis was performed through an exploratory and descriptive approach, with records from the outbreak module of the National System of Notifiable Diseases between January 2020 and June 2021. RESULTS: Outbreaks of influenza-like illness in this department represented 24.93% of all notifications. The highest concentration was seen in the state capital and metropolitan area. A total of 1 018 confirmed outbreaks were observed, involving 6 110 cases and 1 240 deaths among older people. Of these cases, 71.67% were confirmed for coronavirus disease 19 (COVID-19), 12.77% for the influenza virus, and 15.56% for other respiratory viruses. The percentages regarding death outcomes were similar, with a 20.29% lethality of influenza-like illness. Within the studied group, the older adults were the most affected. A statistical difference was observed between cases and deaths. CONCLUSIONS: Owing to the current scenario and the known vulnerabilities of these facilities, there is an urgent need for joint and articulated action by various administrative levels in order to minimize the devastating effects of influenza-like illness outbreaks (especially of COVID19) in older adults at long-term care homes. The strengthening of information systems and their interoperability are considered of utmost importance in order to improve the quality of information on outbreaks, which is essential during a pandemic.
Instituições de longa permanência para idosos são locais que apresentam um alto risco de surtos epidêmicos, visto que concentram indivíduos, frequentemente mais frágeis e vulneráveis. OBJETIVO: Descrever as características epidemiológicas de surtos de síndrome gripal entre idosos em instituições de longa permanência no estado de São Paulo. MÉTODOS: A análise foi realizada através de uma abordagem exploratória e descritiva, utilizando-se de registros do Sistema de Informações de Agravos de Notificação, módulo surto, entre janeiro de 2020 e junho de 2021. RESULTADOS: Surtos de síndrome gripal neste departamento representaram 24,93% do total de notificações. A maior concentração de surtos ocorreu na capital e região metropolitana. Foram observados 1018 surtos confirmados, envolvendo 6110 casos e 1240 óbitos em idosos. Entre estes casos, 71,67% foram confirmados para COVID-19, 12,77% para o vírus Influenza e 15,56%, para outros vírus respiratórios. Óbitos apresentaram porcentagens semelhantes, com a letalidade de síndrome gripal sendo de 20,29%. No grupo estudado, idosos mais longevos foram os mais acometidos. Houve diferença estatística entre casos e óbitos. CONCLUSÕES: Devido ao cenário atual e às conhecidas vulnerabilidades destas instituições, há a necessidade urgente de uma ação conjunta e articulada por parte de diversas esferas administrativas para minimizar os efeitos devastadores de surtos de síndrome gripal, especialmente os de COVID-19, em instituições de longa permanência. O fortalecimento de sistemas de informação e sua interoperabilidade são considerados de vital importância para melhorar a qualidade da informação sobre surtos institucionais, a qual é essencial durante uma pandemia.