Comparative transcriptomic analysis of circulating endothelial cells in sickle cell stroke.

Ischemic stroke (IS) is one of the most impairing complications of sickle cell anemia (SCA), responsible for 20% of mortality in patients. Rheological alterations, adhesive properties of sickle reticulocytes, leukocyte adhesion, inflammation and endothelial dysfunction are related to the vasculopathy observed prior to ischemic events. The role of the vascular endothelium in this complex cascade of mechanisms is emphasized, as well as in the process of ischemia-induced repair and neovascularization. The aim of the present study was to perform a comparative transcriptomic analysis of endothelial colony-forming cells (ECFCs) from SCA patients with and without IS. Next, to gain further insights of the biological relevance of differentially expressed genes (DEGs), functional enrichment analysis, protein-protein interaction network (PPI) construction and in silico prediction of regulatory factors were performed. Among the 2469 DEGs, genes related to cell proliferation (AKT1, E2F1, CDCA5, EGFL7), migration (AKT1, HRAS), angiogenesis (AKT1, EGFL7) and defense response pathways (HRAS, IRF3, TGFB1), important endothelial cell molecular mechanisms in post ischemia repair were identified. Despite the severity of IS in SCA, widely accepted molecular targets are still lacking, especially related to stroke outcome. The comparative analysis of the gene expression profile of ECFCs from IS patients versus controls seems to indicate that there is a persistent angiogenic process even after a long time this complication has occurred. Thus, this is an original study which may lead to new insights into the molecular basis of SCA stroke and contribute to a better understanding of the role of endothelial cells in stroke recovery.

Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population.

Purpose: Glaucoma is the world's leading cause of irreversible blindness, with primary open-angle glaucoma (POAG) being the most prevalent subtype. In recent years, there have been advances in knowledge about the genetics involved in POAG, but genetic studies in admixed populations, such as Brazilians, are still rare. This study aimed to evaluate the association of single nucleotide variants (SNV) of the ABCA1 (rs2472493) and GAS7 (rs9913911) genes with POAG in a sample of the Brazilian population. Furthermore, the study aimed to evaluate the relationship between these SNVs and the need for surgical intervention in glaucoma control. Methods: A cross-sectional association study with 1,009 subjects (505 patients with POAG and 504 controls) was performed. Participants underwent a comprehensive ocular examination, including the need for surgical procedures for intraocular pressure control. Genotyping of SNVs was performed using the TaqMan genotyping assay. Results: SNV rs9913911 of GAS7 was found to be associated with POAG in the presence of the risk allele A (p = 0.0004) and the AA genotype (p = 0.002). There was no association between SNV rs2472493 of ABCA1 for either the allele risk or genotypes. However, the combination of these variants showed an additive effect on the risk for POAG: ABCA1(GG) + GAS7(AA; p = 0.02), ABCA1(GG) + GAS7(AG; p = 0.003), and ABCA1(AG) + GAS7(AG; p = 0.004). Also, POAG patients carrying the AA genotype of the GAS7 gene required antiglaucomatous surgery more frequently than those without the AA genotype (p = 0.01). Conclusions: In a Brazilian population sample, there was an association identified between SNV rs9913911 (GAS7) and the risk of POAG, and an additive effect was found when GAS7 was combined with SNV rs2472493 (ABCA1). There was an association between SNV rs9913911 (GAS7) and the risk for antiglaucomatous surgery.

Prenatal diagnosis study using array comparative genomic hybridization for genotype-phenotype correlation in 772 fetuses.

OBJECTIVE: The aim was to evaluate the main indications for prenatal diagnosis, the prevalence of abnormal copy number variations (CNVs), correlate them with clinical findings, analyze the prevalence of VUS, report the rare variants found and additionally highlight the clinical importance of microarray-based comparative genomic hybridization (aCGH) in prenatal diagnosis. STUDY DESIGN: We retrospectively analyzed a cohort of 772 fetuses with indication for genetic study in two tertiary hospitals, in a 9-years-period, using aCGH. RESULTS: Our results demonstrated 8.3 % (6.4-10.5 %, 95 % CI) detection rate of pathogenic CNVs. Within this group, the main indication was structural malformations (57 %) mainly involving central nervous system, skeletal and cardiac systems. Pathogenic results in cases with multiple malformations were higher than in cases with isolated anatomical system malformations showing statistical significant differences (p < 0.001). The second indication where we found more pathogenic CNVs was increased nuchal translucency (5-6.4 mm). In fact, the rate of pathogenic CNVs did not show significant differences between structural and non-structural malformations (p > 0.001), highlighting the relevance of genetic study by aCGH also in cases with no structural malformations. A total of 217 fetuses with CNVs classified as VUS were identified, mainly involving chromosomes X, 1 and 16. CONCLUSION: Our findings demonstrate 4.9 % (4.2-5.6 %, 95 % CI) increased in the diagnostic yield using aCGH compared to the use of conventional karyotype alone, confirming that the aCGH can improve the accuracy of prenatal diagnosis. Our survey provides a full genotype-phenotype analysis that can be clinically useful for the classification of variants in the context of prenatal setting, helping to provide a better reproductive genetic counselling.

Placental spectrum features between mesenchymal dysplasia and partial hydatidiform mole coexisting with a live fetus.

We report a case of a singleton hydrops pregnancy with placental gross and microscopic features between partial hydatidiform mole (PHM) and placental mesenchymal dysplasia (PMD) in a diploid live fetus. Pregnancy was complicated by early onset of growth restriction and pre-eclampsia. A female newborn was born at 29 weeks with no congenital malformations. Histology of the placenta revealed mixed phenotype of PMD and PHM, and genetic test results were normal.

Prenatal diagnosis of isolated frontonasal dysplasia: A case report.

We report a case of mild frontonasal dysplasia, a complex and rare malformation affecting the central portion of the face, especially the eyes, nose, and forehead, which was diagnosed at 20 weeks of gestation. The diagnosis was made by two- and four-dimensional ultrasound and confirmed at autopsy after pregnancy termination. A review of the literature is presented.

Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature.

Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.

Placental transcriptome profile of women with sickle cell disease reveals differentially expressed genes involved in migration, trophoblast differentiation and inflammation.

Sickle cell disease (SCD) is a group of disorders whose common characteristic is the presence of hemoglobin (Hb) S in erythrocytes. The main consequence of this abnormality is vaso-occlusion, which can affect almost all organs including the placenta. This study aimed to evaluate the gene expression profile in placentas of women with SCD by means of total RNA sequencing. For this, we proposed a case-control study, with three groups of pregnant women: HbSS (n = 10), HbSC (n = 14) and HbAA (n = 21). The results showed differences in expression in a number of genes such as NOS2 (fold change, FC = 4.52), HLAG (FC = 5.56), ASCL2 (FC = 3.61), CXCL10 (FC = -3.66) and IL1R2 (FC = 3.92) for the HbSC group and S100A8 (FC = -3.82), CPXM2 (FC = 4.57), CXCL10 (FC = -4.59), CXCL11 (FC = -3.72) and CAMP (FC = -4.55) for the HbSS group. Differentially expressed genes are mainly associated with migration, trophoblast differentiation and inflammation. The causes leading to altered gene expression in placentas of sickle cell patients are not fully understood, but the presence of intravascular hemolysis and vaso-occlusion, with cycles of ischemia and reperfusion, may contribute to the emergence of an environment which can be very harmful for placental physiology, altering the nutrient supply and metabolic exchange for fetal growth.

Seroprevalence of SARS-CoV-2 IgM and IgG antibodies in an asymptomatic population in Sergipe, Brazil.

OBJECTIVE: To estimate the prevalence of SARS-CoV-2 antibodies in an asymptomatic population in the state of Sergipe, Brazil.
. METHODS: This cross-sectional study with stratified sampling (sex and age) included serological immunofluorescent tests for IgM and IgG on samples from 3 046 asymptomatic individuals. Sample collection was performed in wet-markets of the 10 most populous cities of Sergipe, Brazil. Exclusion criteria included symptomatic individuals and health workers. The presence of comorbidities was registered.
. RESULTS: Of the 3 046 participants, 1 577 (51.8%) were female and 1 469 (48.2%) were male; the mean age was 39.76 (SD 16.83) years old. 2 921 tests were considered valid for IgM and 2 635 for IgG. Of the valid samples, 347 (11.9% [CI 10.7%-13.1%]) tested positive for IgM and 218 (8.3% [CI 7.2%-9.4%]) tested positive for IgG. Women over 40 had the highest prevalence for IgM (group C, p=0.006; group D p=0.04). The capital Aracaju displayed the highest prevalence for both antibodies; 83 (26.3% [CI 21.6%-31.6%]) tested positive for IgM and 35 (14.6% [CI 10.4%-19.7%]) for IgG. The most prevalent comorbidities were hypertension (64/123 individuals) and diabetes (29/123).
. CONCLUSIONS: A high prevalence of SARS-CoV-2 antibodies was found among asymptomatic persons in Sergipe. Women over 40 showed the highest rates. The capital, Aracaju, displayed the highest seroprevalence. Surveys like this one are important to understand how the virus spreads and to help authorities to plan measures to control it. Repeated serologic testing are required to track the progress of the epidemic.

OBJETIVO: estimar la prevalencia de anticuerpos dirigidos contra el SARS-CoV-2 en una población asintomática del estado de Sergipe, Brasil. MÉTODOS: estudio transversal con muestreo estratificado (por sexo y edad) que incluyó pruebas serológicas de inmunofluorescencia para IgM e IgG en muestras de 3 046 individuos asintomáticos. La recolección de muestras se realizó en los mercados húmedos de las 10 ciudades más pobladas de Sergipe, Brasil. Se excluyó a los individuos sintomáticos y a los trabajadores de la salud. Se registró la presencia de comorbilidades. RESULTADOS: De los 3 046 participantes, 1 577 (51,8%) eran mujeres y 1 469 (48,2%) varones; la edad promedio fue de 39,76 (SD 16,83) años. Se consideraron válidas 2 921 pruebas para la IgM y 2 635 para la IgG. De las muestras válidas, 347 (11,9% [CI 10,7%-13,1%]) resultaron positivas para IgM y 218 (8,3% [CI 7,2%-9,4%]) para IgG. Las mujeres mayores de 40 años tuvieron la mayor prevalencia de IgM (grupo C, p=0,006; grupo D, p=0,04). Aracaju, la capital del estado, mostró la mayor prevalencia para ambos anticuerpos; 83 (26,3% [CI 21,6%-31,6%]) resultaron positivas para IgM y 35 (14,6% [CI 10,4%-19,7%]) para IgG. Las comorbilidades más frecuentes fueron la hipertensión (64/123 individuos) y la diabetes (29/123). CONCLUSIONES: Se encontró una alta prevalencia de anticuerpos contra el SARS-CoV-2 en personas asintomáticas en Sergipe. Las mujeres mayores de 40 años mostraron las tasas más altas. La capital, Aracaju, mostró la mayor seroprevalencia. Las encuestas como esta son importantes para comprender cómo se propaga el virus y para ayudar a las autoridades a planificar medidas de control. Se requieren pruebas serológicas repetidas para dar seguimento al progreso de la epidemia.

Association of the CFH Y402H Polymorphism with the 1-Year Response of Exudative AMD to Intravitreal Anti-VEGF Treatment in the Brazilian Population.

AIM: Evidence of the relationship between the polymorphism of the complement factor H (CFH) gene at position 402 (Y402H) and the response to the treatment of wet AMD is controversial. The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population. METHODS: Forty-six patients treated for wet AMD with bevacizumab or ranibizumab in a pro re nata regimen were included. The evolution of best-corrected visual acuity (BCVA) and central retinal thickness (CRT), and the number of injections over 1 year of follow-up were correlated with CFH genotypes. RESULTS: The analysis of variance for the difference between the BCVA denoted as logMAR (logarithm of the minimum angle of resolution) values showed an improvement at 1 year when compared to baseline (p = 0.039). Profile contrast analysis showed that this difference was significant only in the group without the C allele (p = 0.049), without significance in patients presenting with the risk allele (p = 0.241). CRT showed a mean reduction at 1 year compared to baseline (p < 0.001). Significant differences in the profile contrast test were found in the group without the C allele (p < 0.001) and in patients with the risk allele (p = 0.002). No difference was found in the number of injections among the different groups (p = 0.787). CONCLUSIONS: The presence of the risk allele of the Y402H polymorphism in the CFH gene was related to a less favorable evolution over 1 year in this sample of the Brazilian population with exudative AMD who were being treated with anti-VEGF drugs. In agreement with similar previous studies, this study concludes that the CFH risk genotypes may affect the disease response to treatment.

Differentiating Leber Hereditary Optic Neuropathy from Normal-Tension Glaucoma.

Glaucoma is a neurodegenerative disorder characterized by thinning of neuroretinal rim, enlarged cup-to-disc ratio (CDR) and visual field damage. Although raised intraocular pressure is main risk factor for development of glaucoma, it can occur with consistently normal measurements in the intraocular pressure as normal tension glaucoma (NTG). Enlargement of CDR is a classical sign of glaucoma, but it can also result from non-glaucomatous optic neuropathies such as Leber hereditary optic neuropathy (LHON). We describe a case of LHON with increased CDR, discuss its differential diagnosis with NTG and highlight the reasons for misdiagnoses between these two entities.

Abnormal expression of inflammatory genes in placentas of women with sickle cell anemia and sickle hemoglobin C disease.

Sickle cell disease (SCD) is a complex disease that is characterized by the polymerization of deoxyhemoglobin S, altered red blood cell membrane biology, endothelial activation, hemolysis, a procoagulant state, acute and chronic inflammation, and vaso-occlusion. Among the physiological changes that occur during pregnancy, oxygen is consumed by fetal growth, and pregnant women with SCD are more frequently exposed to low oxygen levels. This might lead to red blood cells sickling, and, consequently, to vaso-occlusion. The mechanisms by which SCD affects placental physiology are largely unknown, and chronic inflammation might be involved in this process. This study aimed to evaluate the gene expression profile of inflammatory response mediators in the placentas of pregnant women with sickle cell cell anemia (HbSS) and hemoglobinopathy SC (HbSC). Our results show differences in a number of these genes. For the HbSS group, when compared to the control group, the following genes showed differential expression: IL1RAP (2.76-fold), BCL6 (4.49-fold), CXCL10 (-2.12-fold), CXCR1 (-3.66-fold), and C3 (-2.0-fold). On the other hand, the HbSC group presented differential expressions of the following genes, when compared to the control group: IL1RAP (4.33-fold), CXCL1 (3.05-fold), BCL6 (4.13-fold), CXCL10 (-3.32-fold), C3 (-2.0-fold), and TLR3 (2.38-fold). Taken together, these data strongly suggest a differential expression of several inflammatory genes in both SCD (HbSS and HbSC), indicating that the placenta might become an environment with hypoxia, and increased inflammation, which could lead to improper placental development.

Effects of neuromuscular electrical stimulation and low-level laser therapy on the muscle architecture and functional capacity in elderly patients with knee osteoarthritis: a randomized controlled trial.

OBJECTIVES: To determine the effects of low-level laser therapy in combination with neuromuscular electrical stimulation on the muscle architecture and functional capacity of elderly patients with knee osteoarthritis. DESIGN: A randomized, evaluator-blinded clinical trial with sequential allocation of patients to three different treatment groups. SETTING: Exercise Research Laboratory. SUBJECTS: A total of 45 elderly females with knee osteoarthritis, 2-4 osteoarthritis degrees, aged 66-75 years. INTERVENTION: Participants were randomized into one of the following three intervention groups: electrical stimulation group (18-32 minutes of pulsed current, stimulation frequency of 80 Hz, pulse duration of 200 µs and stimulation intensity fixed near the maximal tolerated), laser group (low-level laser therapy dose of 4-6 J per point, six points at the knee joint) or combined group (electrical stimulation and low-level laser therapy). All groups underwent a four-week control period (without intervention) followed by an eight-week intervention period. MAIN MEASURES: The muscle thickness, pennation angle and fascicle length were assessed by ultrasonography, and the functional capacity was assessed using the 6-minute walk test and the Timed Up and Go Test. RESULTS: After intervention, only the electrical stimulation and combined groups exhibited significant increases in the muscle thickness (27%-29%) and pennation angle (24%-34%) values. The three groups exhibited increased performance on the walk test (5%-9%). However, no significant differences in terms of functional improvements were observed between the groups. CONCLUSIONS: Neuromuscular electrical stimulation reduced the deleterious effects of osteoarthritis on the quadriceps structure. Low-level laser therapy did not potentiate the effects of electrical stimulation on the evaluated parameters.

Pharmacogenetic Effect of Complement Factor H Gene Polymorphism in Response to the Initial Intravitreal Injection of Bevacizumab for Wet Age-Related Macular Degeneration.

PURPOSE: To compare the functional and morphological response to the initial intravitreal (IVT) injection of bevacizumab in exudative age-related macular degeneration (AMD) patients with the complement factor H (CFH) gene polymorphism T1277C in the Brazilian population. METHODS: Twenty-five unrelated patients with treatment-naive exudative AMD underwent an IVT injection of 1.25 mg bevacizumab at the initial presentation (D0) and were reexamined 7 days (D7) and 28 days (D28) later. The time and extent of visual acuity (VA) and central retinal thickness (CRT) changes were evaluated according to the presence of the T1277C polymorphism. RESULTS: In the homozygous risk group (CC), VA improvement was detected mostly from D7 to D28, while in the heterozygous (CT) and homozygous for the wild-type allele (TT) groups, functional response occurred earlier, from D0 to D7. Morphological response to the first IVT injection of bevacizumab was significant in the CT and TT groups, while the CC group presented no significant change in CRT up to D28. CONCLUSION: The CC variant of the CFH gene polymorphism T1277C is related to delayed functional and limited morphological response to the initial IVT injection of bevacizumab in exudative AMD patients in a sample of the Brazilian population.

Stroke awareness in a Brazilian Northeastern capital city and the burden of the COVID-19 pandemic.

BACKGROUND: The delay in recognizing stroke symptoms is a significant obstacle to receiving acute treatment. Therefore, it is essential to understand the gaps in the knowledge about stroke among the general population and promote campaigns based on these gaps. OBJECTIVE: To investigate the general knowledge about stroke in a capital in Northeastern Brazil in a sample of individuals who attended a public hospital and the impacts of the coronavirus disease 2019 (COVID-19) pandemic on the use of emergency services. METHODS: We included patients older than 18 years of age and their family members and/or companions. After obtaining consent, the researcher presented a typical case of stroke, and the participants filled out a questionnaire divided into 2 sections: sociodemographic data and 15 questions about stroke detection and seeking health services and treatment. RESULTS: We included 154 individuals with a mean age of 44.45 ± 16.21 years. After presenting the case, 60.4% mentioned the acronym AVC (acidente vascular cerebral, or cerebrovascular accident [stroke], in Portuguese) as a possible explanation, and 54.5% reported that they would call the Mobile Emergency Care Service. However, 62.9% provided the incorrect telephone number for the Mobile Emergency Care Service or lacked knowledge of the accurate number. Regarding the risk factors for stroke, 27.9% did not know any of them, 65.5% were unaware of any treatment, and no reference was made to thrombolytic therapy. About their chosen conduct in the same case in the context of the COVID-19 pandemic, 98.1% of the participants would not change their behavior. CONCLUSION: These results can assist in the planning of public policies and campaigns emphasizing the issue of risk factors and how to access emergency medical services in the state of Alagoas, Brazil.

ANTECEDENTES: O atraso no reconhecimento dos sinais do acidente vascular cerebral (AVC) é um dos principais obstáculos para receber o tratamento de fase aguda. Portanto, é importante compreender as lacunas no conhecimento da população sobre o AVC e promover campanhas de acordo com essas lacunas. OBJETIVO: Investigar o conhecimento geral sobre o AVC em uma amostra de indivíduos acompanhados em um hospital público de uma capital do Nordeste brasileiro e o impacto da pandemia de doença do coronavírus 2019 (coronavirus disease 2019 - COVID-19, em inglês) na utilização dos serviços de emergência. MéTODOS: Foram incluídos pacientes acima de 18 anos e seus acompanhantes e/ou familiares. Após a assinatura do termo de consentimento, o pesquisador apresentou um caso típico de AVC, e os participantes responderam um questionário dividido em 2 partes: dados sociodemográficos e 15 perguntas sobre o reconhecimento do AVC, procura por serviços de saúde e tratamento. RESULTADOS: Foram incluídos 154 participantes com idade média de 44,45 ± 16,21 anos. Após a apresentação do caso, 60,4% mencionaram AVC como uma possível explicação, e 54,5% chamariam o Serviço de Atendimento Móvel de Urgência (SAMU). Entretanto, 62,9% erraram ou não sabiam o número do SAMU. Quanto aos fatores de risco de desenvolver AVC, 27,9% não sabiam identificar nenhum, 65,5% não conheciam qualquer tratamento, e não houve menção ao tratamento trombolítico. Com relação à conduta no mesmo caso, mas no contexto da pandemia de COVID-19, 98,1% dos participantes não mudariam sua conduta. CONCLUSãO: Os resultados deste estudo podem auxiliar no planejamento de políticas públicas com ênfase em campanhas sobre os fatores de risco e o acionamento do SAMU em Alagoas, Brasil.

The molecular mechanism responsible for HbSC retinopathy may depend on the action of the angiogenesis-related genes ROBO1 and SLC38A5.

HbSC disease, a less severe form of sickle cell disease, affects the retina more frequently and patients have higher rates of proliferative retinopathy that can progress to vision loss. This study aimed to identify differences in the expression of endothelial cell-derived molecules associated with the pathophysiology of proliferative sickle cell retinopathy (PSCR). RNAseq was used to compare the gene expression profile of circulating endothelial colony-forming cells from patients with SC hemoglobinopathy and proliferative retinopathy (n = 5), versus SC patients without retinopathy (n = 3). Real-time polymerase chain reaction (qRT-PCR) was used to validate the RNAseq results. A total of 134 differentially expressed genes (DEGs) were found. DEGs were mainly associated with vasodilatation, type I interferon signaling, innate immunity and angiogenesis. Among the DEGs identified, we highlight the most up-regulated genes ROBO1 (log2FoldChange = 4.32, FDR = 1.35E-11) and SLC38A5 (log2FoldChange = 3.36 FDR = 1.59E-07). ROBO1, an axon-guided receptor, promotes endothelial cell migration and contributes to the development of retinal angiogenesis and pathological ocular neovascularization. Endothelial SLC38A5, an amino acid (AA) transporter, regulates developmental and pathological retinal angiogenesis by controlling the uptake of AA nutrient, which may serve as metabolic fuel for the proliferation of endothelial cells (ECs) and consequent promotion of angiogenesis. Our data provide an important step towards elucidating the molecular pathophysiology of PSCR that may explain the differences in ocular manifestations between individuals with hemoglobinopathies and afford insights for new alternative strategies to inhibit pathological angiogenesis.

Polymorphism in the HMOX1 gene is associated with high levels of fetal hemoglobin in Brazilian patients with sickle cell anemia.

The aim of this study was to investigate the association between three polymorphisms involved in the oxidative stress pathway and fetal hemoglobin (Hb F) levels in patients with sickle cell anemia in a Brazilian population. One hundred and seven patients with sickle cell anemia were recruited for genomic DNA extraction. The levels of Hb F, sex and age were evaluated. Three polymorphisms, rs4673:T>C and rs9932581:G>A in the CYBA gene and rs2071746:A>T in the HMOX1 gene, were identified through direct sequencing. Hb F levels were not associated with sex, age, or the polymorphisms rs4673:T>C and rs9932581:G>A. However, the TT genotype of the rs2071746:A>T polymorphism was associated with increased levels of Hb F (p value = 0.0131). We observed an association between the TT genotype of the rs2071746:A>T polymorphism, present in the HMOX1 gene, and increased levels of Hb F, indicating the presence of a new marker related to Hb F levels in sickle cell anemia patients.

Effects of added elastic tubes on open-chain knee extensor strength training.

Attaching elastic tubes (ETs) to resistance training machines can affect the exercise load profile. The purpose of this study was to assess the training effects of added ETs, which were strategically attached to provide additional loads only during the deceleration phase of the knee extension exercise. Twenty-two healthy participants, assigned to either an experimental group (with ETs) or a control group (without ETs), participated in a 12-week strength-training program using a knee extension exercise machine. The acceleration effects were quantified and a method of attaching the ETs to the knee extension machine was developed. The effects of the added ETs were analysed by testing dynamic and isometric maximum contractions at four knee flexion angles (10 degrees, 30 degrees, 50 degrees, and 80 degrees). Analyses of covariance with the initial values as the covariate were used to examine the ETeffects. A greater increase in isometric maximum strength was found in the experimental group than in the control group at knee flexion angles of 10 degrees [effect size (ES) = 2.25] and 30 degrees (ES = 1.18). No significant difference in the dynamic maximum strength was found between the groups. The use of ETs increased strength at smaller knee flexion angles with quadriceps that were relatively short.

Association of variants in the ATXN2 (rs7137828), FOXC1 (rs2745572) and TXNRD2 (rs35934224) genes as risk factors for primary open-angle glaucoma development in a Brazilian cohort.

BACKGROUND: Primary open-angle glaucoma (POAG), the world's main cause of irreversible blindness, is an asymptomatic and neurodegenerative disease of multifactorial etiology with ethnic and geographic disparities. Multiethnic genome-wide association studies (GWAS) identified single nucleotide variants (SNVs) in ATXN2, FOXC1, and TXNRD2 loci as risk factors for POAG pathophysiology and/or endophenotypes. The aim of this case-control study was to investigate the association of the variants rs7137828 (ATXN2), rs2745572 (FOXC1), and rs35934224 (TXNRD2), as risk factors for POAG development, additionally to rs7137828 association with glaucoma clinical parameters in a Brazilian cohort from the Southeast and South regions. METHODS: This investigation comprised 506 cases and 501 controls. Variants rs2745572 and rs35934224 were genotyped through TaqMan® assays and validated by Sanger sequencing. Variant rs7137828 was genotyped exclusively by Sanger sequencing. RESULTS: The primary research outcome revealed that the variant rs7137828 (ATXN2) was associated with an increased risk for the development of POAG in the presence of the TT genotype compared to the CC genotype (p = 0.006; Odds Ratio [OR] = 1.717; Confidence Interval [CI] 95% = 1.169-2.535). There was no significant association of rs2745572 and rs35934224 genotypes with POAG. The CT genotype of the rs7137828 was associated with the vertical cup-to-disk ratio (VCDR) (p = .023) but not with the age at diagnosis or the mean deviation. CONCLUSION: Our data indicate the rs7137828 associated with increased risk for the development of POAG and VCDR in a Brazilian cohort. If validated in additional populations, these findings may enable the development of relevant strategies for early diagnosis of glaucoma in the future.