RESUMO
The dramatic increase in the number of COVID-19 cases has been a threat to global health and a challenge for health systems. Estimating the prevalence of infection in the population is essential to provide support for action planning. Within this scenario, the aim of the present study was to analyze the seroprevalence and associated factors of COVID-19 Jundiaí, São Paulo, Brazil. This cross-sectional study was conducted from June 1st to June 19th, 2020. The participants were patients with respiratory symptoms who sought Primary Care Units (UBS) (n = 1,181) and subjects recruited from randomly selected households by probability sampling (n = 3,065), as screening strategy. All participants, in both phases, were submitted to SARS-CoV-2 rapid antigen tests (IgG and IgM) and responded to a questionnaire including sociodemographic characteristics based on Behavioural Insights for COVID-19. Total seroprevalence (positive/negative) was the outcome and the independent variables were sociodemographic variables, health behavior and signs/symptoms. The chi-squared test was used for association analysis (p<0.05) and variables with p<0.20 were entered into the logistic regression model (p<0.05). A total of 1,181 subjects from the UBS and 3,065 from the selected households participated in the study. The seroprevalence was 30.8% in the UBS and 3.1% in the households. The adjusted logistic regression identified that lower educational level (OR 2.68; 95%CI 1.59-4.54), household member testing positive (OR 1.67; 95%CI 1.16-2.39), presence of anosmia (OR 3.68, 95%CI 2.56-5.28) and seeking UBS (OR 3.76; 95%CI 2.08-6.82) was risk factors to test positive for SARS-CoV-2. Estimating the seroprevalence in the population was important to know the disease extension that was higher than the notified cases. These results showed socioeconomic aspects associated with COVID-19 even adjusted by symptoms. Populational epidemiologic studies that investigate the associated factors of COVID-19 are relevant to plan strategies to control the pandemic.
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Objective: (1) To investigate differences in pain severity and its distribution between patients with and without diabetes mellitus (DM) in a population with advanced osteoarthritis (OA). (2) To explore the role of medication used for diabetes in these associations. Research design and methods: This is a hospital-based cohort study of patients with advanced OA requiring total joint arthroplasty. Interviews and electronic records included: age, gender, occupation, DM (including medication and duration), analgesics used, anthropometry, joints affected by pain and disease duration. Joint pain was scored by the patients using numerical rating scale. Pain severity score was calculated by adding the number of joints affected by pain and the maximum pain score. All analyses were adjusted and/or stratified by gender, age and body mass index. Results: In total, 489 patients with painful OA were included. From those, 139 patients had DM (30% males and 28% females, p=0.03). Pain severity, principally the number of joints affected by pain, and analgesic consumption, was higher in males with diabetes compared with males without diabetes (p=0.012 and OR=3.03; 95% CI 1.24 to 7.36, p=0.015, respectively). These associations were not significant in females (p=0.41 and p=0.66). Pain was more severe in males using insulin versus those who did not (p=0.025). Male subjects with diabetes had higher odds of hand pain or knee and hand pain compared with males without diabetes (OR=3.7, 95% CI 1.15 to 12; p=0.028 and OR=5.54; 95% CI 1.43 to 21.5, p=0.013, respectively). Conclusions: Males with diabetes, especially those who require insulin, have more severe joint pain and consume more analgesics than males without diabetes or those who have DM and use other DM medication.
Assuntos
Artralgia/complicações , Artralgia/patologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Osteoartrite do Joelho/complicações , Idoso , Artralgia/epidemiologia , Estudos de Coortes , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Articulação do Quadril , Humanos , Articulação do Joelho , Masculino , Pessoa de Meia-Idade , Osteoartrite do Joelho/epidemiologia , Osteoartrite do Joelho/patologia , Medição da Dor , Fatores de Risco , Índice de Gravidade de Doença , Caracteres Sexuais , Fatores SexuaisRESUMO
BACKGROUND: Total joint arthroplasty (TJA) benefit patients with osteoarthritis (OA) and rheumatoid arthritis (RA). However, a specific approach to detect patients at higher risk of prosthetic joint infection (PJI) and mechanical complications is absent. The aim of this study is to identify groups at higher risk for infections and mechanical complications after TJA in patients with RA and OA based on their most significant predictors. METHODS: This is a hospital-based cohort study with 1150 recipients of TJA. Risk factors and comorbidities were assessed prior to the index surgery. Multivariate logistic and hazard regression were used to determine the relationship between risk factors and occurrence of complications after TJA. Odds ratios (OR), hazard ratios (HR), 95% confidence intervals (CI), and comparison between areas under the curve (AUC) using DeLong's method are presented. RESULTS: Complications were more frequent in subjects with RA, use of corticosteroids, and previous comorbidities: respiratory disease, infections, diabetes, anemia, mental and musculoskeletal comorbidities than in subjects without these risk factors, and these factors were predictors of infections and mechanical complications (P < 0.05). A model including these factors was superior to a model with only type of joint disease (OA/RA) or age and gender to detect infections or mechanical complications after TJA (P < 0.05 for difference between models). Complication risk proportionally increased with the presence of two or more comorbidities (P < 0.001). CONCLUSIONS: There are two groups at higher risk for infections after TJA: patients with OA with at least two risk factors and patients with RA, who usually present at least one of the risk factors for infection.
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Artroplastia de Quadril/efeitos adversos , Artroplastia do Joelho/efeitos adversos , Complicações Pós-Operatórias/etiologia , Adulto , Idoso , Artrite Reumatoide/cirurgia , Comorbidade , Feminino , Glucocorticoides/efeitos adversos , Humanos , Masculino , Pessoa de Meia-Idade , Osteoartrite do Quadril/cirurgia , Osteoartrite do Joelho/cirurgia , Valor Preditivo dos Testes , Prognóstico , Falha de Prótese/etiologia , Infecções Relacionadas à Prótese/etiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
PURPOSE: To evaluate telomerase activity and proliferation of HS839.T melanoma cells, subjected to the action of AZT. METHODS: Cells were grown in triplicate, AZT at different concentrations: 50, 100 and 200 µM, was added and left for 24 and 48 hours, and its effects were compared with the control group. Telomerase activity was detected by PCR and cell proliferation was evaluated by MTT. RESULTS: After 24 hours, there was no inhibition of cell proliferation or telomerase activity when compared to the control group. After 48 hours, there was a momentary decrease, suggesting that the cell lines used in this study are sensitive to AZT, but quickly recover both the enzyme activity and cell proliferation. CONCLUSION: The action of AZT on the melanoma cells studied, at the concentrations and times tested, did not inhibit telomerase activity nor affect cell proliferation.
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Proliferação de Células/efeitos dos fármacos , Melanoma/patologia , Neoplasias Cutâneas/patologia , Telomerase/metabolismo , Zidovudina/farmacologia , Adulto , Linhagem Celular Tumoral , Relação Dose-Resposta a Droga , Feminino , Humanos , Melanoma/enzimologia , Neoplasias Cutâneas/enzimologia , Telomerase/antagonistas & inibidores , Fatores de Tempo , Zidovudina/administração & dosagemRESUMO
PURPOSE: To evaluate telomerase activity and proliferation of HS839.T melanoma cells, subjected to the action of AZT. METHODS: Cells were grown in triplicate, AZT at different concentrations: 50, 100 and 200μM, was added and left for 24 and 48 hours, and its effects were compared with the control group. Telomerase activity was detected by PCR and cell proliferation was evaluated by MTT. RESULTS: After 24 hours, there was no inhibition of cell proliferation or telomerase activity when compared to the control group. After 48 hours, there was a momentary decrease, suggesting that the cell lines used in this study are sensitive to AZT, but quickly recover both the enzyme activity and cell proliferation. CONCLUSION: The action of AZT on the melanoma cells studied, at the concentrations and times tested, did not inhibit telomerase activity nor affect cell proliferation.(AU)
OBJETIVO: Avaliar a atividade da telomerase e da proliferação de células de melanoma HS839.T submetidas à ação do AZT. MÉTODOS: As células foram cultivadas, em triplicata, com diferentes concentrações de AZT: 50, 100 e 200µM, por 24h e 48h, seus efeitos comparados com o grupo controle. A atividade da telomerase foi detectada por PCR e a proliferação celular avaliada por MTT. RESULTADOS: No tempo de 24 horas, não houve inibição da proliferação celular e da atividade da telomerase em comparação com o grupo controle. No período de 48 horas, houve uma diminuição momentânea, sugerindo que as células das linhagens utilizadas neste estudo são sensíveis ao AZT, mas que recuperam a atividade enzimática e proliferativa. CONCLUSÃO: Nas células de melanoma HS839.T estudadas e nas concentrações e tempos propostos, a ação do AZT não inibiu a atividade da telomerase e não afetou a proliferação celular.(AU)
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Humanos , Animais , Telomerase/análise , Proliferação de Células , Melanoma , Zidovudina/farmacologiaRESUMO
PURPOSE: To evaluate telomerase activity and proliferation of HS839.T melanoma cells, subjected to the action of AZT. METHODS: Cells were grown in triplicate, AZT at different concentrations: 50, 100 and 200μM, was added and left for 24 and 48 hours, and its effects were compared with the control group. Telomerase activity was detected by PCR and cell proliferation was evaluated by MTT. RESULTS: After 24 hours, there was no inhibition of cell proliferation or telomerase activity when compared to the control group. After 48 hours, there was a momentary decrease, suggesting that the cell lines used in this study are sensitive to AZT, but quickly recover both the enzyme activity and cell proliferation. CONCLUSION: The action of AZT on the melanoma cells studied, at the concentrations and times tested, did not inhibit telomerase activity nor affect cell proliferation.
OBJETIVO: Avaliar a atividade da telomerase e da proliferação de células de melanoma HS839.T submetidas à ação do AZT. MÉTODOS: As células foram cultivadas, em triplicata, com diferentes concentrações de AZT: 50, 100 e 200µM, por 24h e 48h, seus efeitos comparados com o grupo controle. A atividade da telomerase foi detectada por PCR e a proliferação celular avaliada por MTT. RESULTADOS: No tempo de 24 horas, não houve inibição da proliferação celular e da atividade da telomerase em comparação com o grupo controle. No período de 48 horas, houve uma diminuição momentânea, sugerindo que as células das linhagens utilizadas neste estudo são sensíveis ao AZT, mas que recuperam a atividade enzimática e proliferativa. CONCLUSÃO: Nas células de melanoma HS839.T estudadas e nas concentrações e tempos propostos, a ação do AZT não inibiu a atividade da telomerase e não afetou a proliferação celular.
Assuntos
Adulto , Feminino , Humanos , Proliferação de Células/efeitos dos fármacos , Melanoma/patologia , Neoplasias Cutâneas/patologia , Telomerase/metabolismo , Zidovudina/farmacologia , Linhagem Celular Tumoral , Relação Dose-Resposta a Droga , Melanoma/enzimologia , Neoplasias Cutâneas/enzimologia , Fatores de Tempo , Telomerase/antagonistas & inibidores , Zidovudina/administração & dosagemRESUMO
AIMS: To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls. METHODS: This case-control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction-restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p<0.05 was considered to represent a significant difference. RESULTS: The homocysteine levels change was 13.9+3.3 nM in patients with TS and 8.8+3.2 nM in the control group. No significant difference between groups was found (p=0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p=0.063) or allelic (p=0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p<0.0001) and allele (p<0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes-CC and TC-associated with TS (p<0.001 and p=0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk. CONCLUSION: The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS.
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Homocisteína/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Polimorfismo Genético , Síndrome de Turner/genética , Adolescente , Adulto , Brasil , Feminino , Frequência do Gene , Humanos , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Síndrome de Turner/sangue , Adulto JovemRESUMO
Human adult stem cells (hASCs) offer a potentially renewable source of cell types that are easily isolated and rapidly expanded for use in regenerative medicine and cell therapies without the complicating ethical problems that are associated with embryonic stem cells. However, the eventual therapeutic use of hASCs requires that these cells and their derivatives maintain their genomic stability. There is currently a lack of systematic studies that are aimed at characterising aberrant chromosomal changes in cultured ASCs over time. However, the presence of mosaicism and accumulation of karyotypic abnormalities within cultured cell subpopulations have been reported. To investigate cytogenetic integrity of cultured human dental stem cell (hDSC) lines, we analysed four expanded hDSC cultures using classical G banding and fluorescent in situ hybridisation (FISH) with X chromosome specific probe. Our preliminary results revealed that about 70% of the cells exhibited karyotypic abnormalities including polyploidy, aneuploidy and ring chromosomes. The heterogeneous spectrum of abnormalities indicates a high frequency of chromosomal mutations that continuously arise upon extended culture. These findings emphasise the need for the careful analysis of the cytogenetic stability of cultured hDSCs before they can be used in clinical therapies.
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Células-Tronco Adultas/citologia , Aberrações Cromossômicas , Polpa Dentária/ultraestrutura , Instabilidade Genômica , Linhagem Celular , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , CariotipagemRESUMO
Individuals with Turner syndrome (TS) have increased risk for autoimmune diseases, especially thyroid abnormalities. The function of the vitamin D receptor (VDR) gene is influenced by several genetic polymorphisms which are associated with a susceptibility to a range of autoimmune diseases. Thus, we have hypothesized a possible relationship between thyroid abnormalities and VDR polymorphisms (ApaI/G1025-49T, TaqI/T1056C, FokI/T2C and BsmI G1024 + 283A) in TS patients. A case-control study was performed comprising 101 Brazilian women with TS and a control group consisting of 133 healthy fertile women without a history of autoimmune diseases. In TS group, 21.8% had Hashimoto's thyroiditis. Detection of VDR polymorphisms was performed using TaqMan system by real-time PCR. The χ(2) was used to compare allele and genotype frequencies between groups. Combined genotypes of VDR gene polymorphisms were assessed by the haplotype analysis. A p value <0.05 was considered statistically significant. Relatively similar VDR polymorphisms genotype and allelic frequencies in cases and controls were found, even when only considering the patients with thyroid abnormalities. Haplotype analysis showed that none of the VDR haplotypes were associated to thyroid diseases in TS patients. In conclusion, the results showed no association between VDR gene polymorphisms and thyroid abnormalities in Brazilian TS patients tested.
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Receptores de Calcitriol/genética , Síndrome de Turner/genética , Adolescente , Adulto , Alelos , Brasil , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Frequência do Gene , Genótipo , Humanos , Pessoa de Meia-Idade , Polimorfismo Genético , Adulto JovemRESUMO
Estrogen plays an important role in the human reproductive system and its action is mediated mainly by two specific receptors: α (ERα) and ß (ERß). There are polymorphic variants in both ER genes, and studies showed their association with reproductive outcomes. We aimed to determine the distribution of ERα and ERß gene polymorphisms in idiopathic, infertile Brazilian patients in a case-control study comprising 187 idiopathic, infertile Brazilian men with nonobstructive azoospermia (NOA, n = 78) or severe oligozoospermia (SO, n = 109) and 216 fertile men. Detection of ERα (PvuII and XbaI) and ERß (AluI and RsaI) gene polymorphisms were performed using TaqMan PCR. The results were analyzed statically, and a P-value < 0.05 was considered significant. Single-marker analysis revealed that neither PvuII nor XbaI polymorphisms of the ERα gene were associated either with NOA group (P = 0.662 and P = 0.527, respectively) or SO group (P = 0.777 and P = 1.0, respectively). Regarding ERß polymorphisms, no statistical difference was observed between the AluI polymorphism and NOA group compared to controls (P = 1.0) or between SO group and controls (P = 0.423). We found similar results with the RsaI polymorphism. Statistical analysis did not reveal a difference between NOA (P = 0.740) and SO (P = 0.920) groups compared to controls. Combined genotypes of ERα and ERß polymorphisms did not identify a haplotype associated with idiopathic infertility. Thus, in the Brazilian population, genetic variations in both estrogen receptors alpha (PvuII and XbaI) and beta (AluI and RsaI) were not relevant to idiopathic infertility.
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Azoospermia/genética , Receptor alfa de Estrogênio/genética , Receptor beta de Estrogênio/genética , Oligospermia/genética , Adulto , Azoospermia/epidemiologia , Brasil/epidemiologia , Estudos de Casos e Controles , Distribuição de Qui-Quadrado , Marcadores Genéticos , Haplótipos , Humanos , Masculino , Oligospermia/epidemiologia , Polimorfismo de Nucleotídeo ÚnicoRESUMO
INTRODUCTION: Cardiovascular disease is one of the main causes for Turner syndrome (TS) mortality and the evaluation of its risk factors such as excess body fat and its distribution is considered one of the major aspects of the adult patient care. OBJECTIVE: To develop and validate a specific bioelectrical impedance analysis (BIA) equation to predict body composition in TS patients. SUBJECTS AND METHODS: Clinical and anthropometric data, dual-energy X-ray absorptiometry (DXA) for total fat-free mass (FFM) and BIA for resistance and reactance were obtained from 50 adult TS patients. Linear regression analysis was performed with multiple clinical and BIA data to obtain a predicting equation. RESULTS: The equation developed to estimate FFM in adult TS patients showed great consistency with DXA, elevated correlation (r = 0.974) and determination (r(2) = 0.948) coefficients and an adequate standard error estimate (SEE = 1.52 kg). CONCLUSIONS: The specific equation developed here allowed making an adequate FFM estimate in adult TS patients.
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Composição Corporal/fisiologia , Síndrome de Turner , Absorciometria de Fóton/métodos , Adulto , Antropometria , Impedância Elétrica , Feminino , Humanos , Modelos Lineares , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Síndrome de Turner/genética , Adulto JovemRESUMO
To show that in the dysgenetic gonads of 104 Turner syndrome patients no significant difference was found regarding the expression of the genes DAX1, FOG2, GATA4, OCT4, SF1, SRY, TSPY, WT1, and STRA8 compared with controls, except for genes OCT4, SRY, and TSPY in both gonads of a patient whose chromosomal constitution was 45,X/45,X,add(15)(p11). The expression analysis of genes OCT4, SRY, and TSPY in the dysgenetic gonads of Turner syndrome patients may allow introducing modifications in the microenvironment that could contributed to a malignant transformation process.
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Cromossomos Humanos Y/genética , Fator 3 de Transcrição de Octâmero/genética , Síndrome de Turner/genética , Adolescente , Adulto , Sequência de Bases , Proteínas de Ciclo Celular/genética , Transformação Celular Neoplásica/genética , Transformação Celular Neoplásica/patologia , Criança , Pré-Escolar , Cromossomos Humanos Y/metabolismo , Feminino , Genes sry , Gônadas/metabolismo , Humanos , Lactente , Cariotipagem , Masculino , Fator 3 de Transcrição de Octâmero/metabolismo , Síndrome de Turner/metabolismo , Síndrome de Turner/patologia , Adulto JovemRESUMO
INTRODUCTION: Cardiovascular disease is one of the main causes for Turner syndrome (TS) mortality and the evaluation of its risk factors such as excess body fat and its distribution is considered one of the major aspects of the adult patient care. OBJECTIVE: To develop and validate a specific bioelectrical impedance analysis (BIA) equation to predict body composition in TS patients. SUBJECTS AND METHODS: Clinical and anthropometric data, dual-energy X-ray absorptiometry (DXA) for total fat-free mass (FFM) and BIA for resistance and reactance were obtained from 50 adult TS patients. Linear regression analysis was performed with multiple clinical and BIA data to obtain a predicting equation. RESULTS: The equation developed to estimate FFM in adult TS patients showed great consistency with DXA, elevated correlation (r = 0. 974) and determination (r² = 0. 948) coefficients and an adequate standard error estimate (SEE = 1.52 kg). CONCLUSIONS: The specific equation developed here allowed making an adequate FFM estimate in adult TS patients.
INTRODUÇÃO: A doença cardiovascular é uma das principais causas de mortalidade na síndrome de Turner (ST) e a avaliação de seus fatores de risco, como excesso e distribuição de gordura corporal, é considerada uma das principais metas da assistência às pacientes adultas. OBJETIVO: Desenvolver e validar uma equação de análise por bioimpedanciometria específica para estimar massa magra na ST. SUJEITOS E MÉTODOS: Foram obtidos dados clínicos, antropométricos, densitometria para massa magra total e bioimpedanciometria para resistência e reactância de 50 mulheres adultas com ST. Para obter uma equação preditora, foi realizada análise de regressão linear com múltiplos dados clínicos e da bioimpedanciometria. RESULTADOS: A equação desenvolvida para estimar massa magra na ST demonstrou grande concordância com a densitometria, elevados coeficientes de correlação (r = 0,974) e determinação (r² = 0,948) e um adequado erro padrão da estimativa (SEE = 1,52 kg). CONCLUSÕES: A equação desenvolvida possibilitou uma adequada estimativa da massa magra em adultas com ST.
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Adulto , Feminino , Humanos , Pessoa de Meia-Idade , Adulto Jovem , Composição Corporal/fisiologia , Síndrome de Turner , Antropometria , Absorciometria de Fóton/métodos , Impedância Elétrica , Modelos Lineares , Valor Preditivo dos Testes , Síndrome de Turner/genética , Adulto JovemRESUMO
Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60 percent of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60 percent of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30 percent), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.
A síndrome de Turner (ST) é uma das aneuploidias mais comuns em humanos e está presente em 1:2000 recém-nascidas com fenótipo feminino. Citogeneticamente, a síndrome é caracterizada por uma monossomia de cromossomo sexual (45,X) em 50-60 por cento dos casos. Os demais casos apresentam mosaicismo com uma linhagem celular 45,X acompanhada de outra(s) com o cromossomo X ou Y íntegros ou com alterações estruturais. A presença de material do cromossomo Y em pacientes com gônadas disgenéticas aumenta o risco de tumores gonadais, especialmente gonadoblastoma. A consideração mais importante diz respeito ao elevado risco de desenvolvimento de gonadoblastoma ou outros tumores e a virilização na puberdade se sequências cromossomo Y-específicas estiverem presentes. O papel do cromossomo Y na oncogênese dos cânceres humanos ainda é controverso. Apesar de o gonadoblastoma ser um tumor benigno, ele pode transformar-se num disgerminoma invasivo em 60 por cento dos casos e também em outras formas malignas de tumores de células germinativas. Apesar de alguns autores questionarem a alta incidência (em torno de 30 por cento) de gonadoblastoma, o risco do desenvolvimento de qualquer tipo de lesão gonadal, tumoral ou não, justifica a pesquisa de sequências do cromossomo Y por PCR (reação de polimerase em cadeia), técnica de alta sensibilidade, baixo custo e fácil execução. Em conclusão, o mosaicismo cromossômico tanto do X como do Y é um fato comum na ST e a detecção de sequências cromossomo Y-específicas nas portadoras, independentemente do seu cariótipo, é necessária para prevenir o desenvolvimento de lesões gonadais.
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Feminino , Humanos , Cromossomos Humanos Y/genética , Gonadoblastoma/genética , Neoplasias Ovarianas/genética , Síndrome de Turner/genética , Gonadoblastoma/prevenção & controle , Mosaicismo , Neoplasias Ovarianas/prevenção & controle , Síndrome de Turner/complicaçõesRESUMO
Patients with fragile X syndrome present a variable phenotype, which contributes to the underdiagnosing of this condition. The use of clinical checklists in individuals with intellectual disability can help in selecting patients to be given priority in the molecular investigation of the fragile X mutation in the FMR1 gene. Some features included in checklists are better predictors than others, but they can vary among different populations and with patient age. In the present study, we evaluated 20 features listed in four clinical checklists from the literature, using a sample of 192 Brazilian male patients presenting with intellectual disability (30 positive and 162 negative for fragile X mutation). After statistical analysis, 12 out of the 20 items analyzed showed significant differences in their distributions between the two groups. These features were grouped in a new checklist that can help clinicians in their referral for fragile X testing in patients with developmental delay.
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Países em Desenvolvimento , Síndrome do Cromossomo X Frágil/diagnóstico , Deficiência Intelectual/diagnóstico , Programas de Rastreamento , Adolescente , Adulto , Brasil , Criança , Pré-Escolar , Estudos Transversais , Síndrome do Cromossomo X Frágil/epidemiologia , Humanos , Deficiência Intelectual/epidemiologia , Masculino , Adulto JovemRESUMO
Gastric adenocarcinoma is a serious public health concern, especially in northern Brazil. Gastric cancer can be subdivided into diffuse and intestinal types. Genetic imbalances in diffuse-type gastric cancer remain largely unknown. In the present study, we analyzed 24 advanced diffuse-type gastric cancer samples from northern Brazil subjects using high-resolution comparative genomic hybridization. We found chromosomal alterations in 75% of samples. In cancers with aneusomies, the mean genomic copy number alteration was 6.4. Losses of chromosome regions exceeded gains. The most frequent losses were located at chromosome regions 11q and 18q (five samples for each region), 1pq, 3q, 4q, 5q, 13q, and 14q (four samples), followed by 2pq, 7p, 9pq, 11p, and 16p (three samples). Our results confirm that gastric cancer has a complex pattern of chromosomal alterations that can be due to general chromosomal instability related to the advanced stage of gastric carcinogenesis. Loss of 11q and 18q were the most frequent chromosomal changes in diffuse-type gastric adenocarcinoma in individuals from northern Brazil. Frequent loss of 11q chromosome region in this gastric cancer may be peculiar among this population.