Foliar application of triacontanol ameliorates heat stress through regulation of the antioxidant defense system and improves yield of eggplant

Abstract Transplanting time and genotype contribute to improving crop yield and quality of eggplant (Solanum melongena L.). A field experiment was conducted to investigate the impact of foliar applied of triacontanol (TRIA) and eggplant genotypes 25919, Nirala, 28389 and Pak-10927,transplanted on 1 March,15 March, and 1 April on exposure to high air temperature conditions. The experiment was performed according to Randomized Complete Block Design and the data was analyzed by using Tuckey,s test . The TRIA was applied at 10µM at flowering stage; distilled water was used as the control. Rate of photosynthesis and transpiration, stomatal conductance, water use efficiency, and effects on antioxidative enzymes (superoxide dismutase, catalase and peroxidase) were evaluated. The 10µM TRIA increased photosynthesis rate and water use efficiency and yield was improved in all genotypes transplanted at the different dates. Foliar application of 10µM TRIA increased antioxidative enzyme activities (SOD, POD & CAT) and improved physiological as well as biochemical attributes of eggplant genotypes exposed to high heat conditions. Highest activity of dismutase enzyme 5.41mg/1g FW was recorded in Nirala genotype in second transplantation. Whereas, lowest was noted in PAK-10927 (2.30mg/g FW). Maximum fruit yield was found in accession 25919 (1.725kg per plant) at 1st transplantation with Triacontanol, whereas accession PAK-10927 gave the lowest yield (0.285 kg per plant) at control treatment on 3rd transplantation. Genotype, transplanting date and application of TRIA improved growth, yield and quality attributes under of heat stress in eggplant.

Resumo O tempo de transplante e o genótipo contribuem para melhorar a produtividade e a qualidade da cultura da berinjela (Solanum melongena L.). Um experimento de campo foi conduzido para investigar o impacto da aplicação foliar de triacontanol (TRIA) e genótipos de berinjela 25919, Nirala, 28389 e Pak-10927, transplantados em 1 de março, 15 de março e 1 de abril de exposição a condições de alta temperatura do ar. O experimento foi realizado de acordo com o Randomized Complete Block Design e os dados foram analisados pelo teste de Tuckey. O TRIA foi aplicado a 10 µM na fase de floração; água destilada foi utilizada como controle. Taxa de fotossíntese e transpiração, condutância estomática, eficiência do uso da água e efeitos sobre as enzimas antioxidantes (superóxido dismutase, catalase e peroxidase) foram avaliados. O TRIA 10 µM aumentou a taxa de fotossíntese e a eficiência do uso da água e o rendimento foi melhorado em todos os genótipos transplantados nas diferentes datas. A aplicação foliar de TRIA 10µM aumentou as atividades das enzimas antioxidantes (SOD, POD e CAT) e melhorou os atributos fisiológicos e bioquímicos de genótipos de berinjela expostos a condições de alto calor. A atividade mais elevada da enzima dismutase 5,41mg / 1g FW foi registrada no genótipo Nirala no segundo transplante. Considerando que o mais baixo foi observado em PAK-10927 (2,30 mg / g FW). A produtividade máxima de frutos foi encontrada no acesso 25919 (1,725 kg por planta) no 1º transplante com Triacontanol, enquanto o acesso PAK-10927 deu a menor produção (0,285 kg por planta) no tratamento de controle no 3º transplante. Genótipo, data de transplante e aplicação de TRIA, melhoramento do crescimento, rendimento e atributos de qualidade sob estresse térmico em berinjela.

Foliar application of triacontanol ameliorates heat stress through regulation of the antioxidant defense system and improves yield of eggplant / Title in the second language of the article: Amelioration of heat stress in egg plant through application of tricontanol

Abstract Transplanting time and genotype contribute to improving crop yield and quality of eggplant (Solanum melongena L.). A field experiment was conducted to investigate the impact of foliar applied of triacontanol (TRIA) and eggplant genotypes 25919, Nirala, 28389 and Pak-10927,transplanted on 1 March,15 March, and 1 April on exposure to high air temperature conditions. The experiment was performed according to Randomized Complete Block Design and the data was analyzed by using Tuckey,s test . The TRIA was applied at 10µM at flowering stage; distilled water was used as the control. Rate of photosynthesis and transpiration, stomatal conductance, water use efficiency, and effects on antioxidative enzymes (superoxide dismutase, catalase and peroxidase) were evaluated. The 10µM TRIA increased photosynthesis rate and water use efficiency and yield was improved in all genotypes transplanted at the different dates. Foliar application of 10µM TRIA increased antioxidative enzyme activities (SOD, POD & CAT) and improved physiological as well as biochemical attributes of eggplant genotypes exposed to high heat conditions. Highest activity of dismutase enzyme 5.41mg/1g FW was recorded in Nirala genotype in second transplantation. Whereas, lowest was noted in PAK-10927 (2.30mg/g FW). Maximum fruit yield was found in accession 25919 (1.725kg per plant) at 1st transplantation with Triacontanol, whereas accession PAK-10927 gave the lowest yield (0.285 kg per plant) at control treatment on 3rd transplantation. Genotype, transplanting date and application of TRIA improved growth, yield and quality attributes under of heat stress in eggplant.

Resumo O tempo de transplante e o genótipo contribuem para melhorar a produtividade e a qualidade da cultura da berinjela (Solanum melongena L.). Um experimento de campo foi conduzido para investigar o impacto da aplicação foliar de triacontanol (TRIA) e genótipos de berinjela 25919, Nirala, 28389 e Pak-10927, transplantados em 1 de março, 15 de março e 1 de abril de exposição a condições de alta temperatura do ar. O experimento foi realizado de acordo com o Randomized Complete Block Design e os dados foram analisados pelo teste de Tuckey. O TRIA foi aplicado a 10 µM na fase de floração; água destilada foi utilizada como controle. Taxa de fotossíntese e transpiração, condutância estomática, eficiência do uso da água e efeitos sobre as enzimas antioxidantes (superóxido dismutase, catalase e peroxidase) foram avaliados. O TRIA 10 µM aumentou a taxa de fotossíntese e a eficiência do uso da água e o rendimento foi melhorado em todos os genótipos transplantados nas diferentes datas. A aplicação foliar de TRIA 10µM aumentou as atividades das enzimas antioxidantes (SOD, POD e CAT) e melhorou os atributos fisiológicos e bioquímicos de genótipos de berinjela expostos a condições de alto calor. A atividade mais elevada da enzima dismutase 5,41mg / 1g FW foi registrada no genótipo Nirala no segundo transplante. Considerando que o mais baixo foi observado em PAK-10927 (2,30 mg / g FW). A produtividade máxima de frutos foi encontrada no acesso 25919 (1,725 ​​kg por planta) no 1º transplante com Triacontanol, enquanto o acesso PAK-10927 deu a menor produção (0,285 kg por planta) no tratamento de controle no 3º transplante. Genótipo, data de transplante e aplicação de TRIA, melhoramento do crescimento, rendimento e atributos de qualidade sob estresse térmico em berinjela.

Characterization of genital chlamydia amongst female sex workers in Nairobi, Kenya

Introduction: genital chlamydia, which is caused by diverse Chlamydia trachomatis genotypes, is largely asymptomatic. We aimed to identify C. trachomatis genotypes causing genital chlamydia among female sex workers attending a sex workers outreach program clinic in Nairobi, Kenya. Methods: this cross-sectional study was conducted between 18 April 2017 and 19 March 2021. Genitourinary complaints from eligible female sex workers were documented using a structured questionnaire. Endocervical swabs were collected for laboratory analysis. C. trachomatis plasmid DNA was extracted, PCR-amplified, and sequenced. Consensus sequences were generated and aligned with reference sequences to determine the C.trachomatis genotypes. Bivariate analysis was used to determine the association between genitourinary complaints and genital chlamydia. Results: endocervical swabs were collected from a total of 348 participants. Of these, 46 (13.2%) were positive for C. trachomatis. Most (297, 85.3%) of the participants presented with pelvic discharge with or without other symptoms. Fifteen (15, 4.3%) had abdominal pain and 3 (0.9%) had an itchy vulva. There was no statistically significant relationship between clinical presentation and genital chlamydia. Twenty-three samples were successfully sequenced. Each sequence was at least 90% identical to each of the 13 references C. trachomatis genotypes A, B, C, D, E, F, G, Ia, J, L1, L2, L2b and L3. Conclusion: we found no significant association between individual genitourinary complaints and genital chlamydia infection. The C. trachomatis genotypes circulating amongst female sex workers in Nairobi could be related to genotypes A, B, C, D, E, F, G, Ia, J, L1, L2, L2b, and L3.

Variante da Subunidade Beta 3 da Proteína G ( GNB3 ) Está Associada a Alterações Bioquímicas em Pacientes Brasileiros com Hipertensão / G Protein Subunit Beta 3 (GNB3) Variant Is Associated with Biochemical Changes in Brazilian Patients with Hypertension

Resumo Fundamento Genes e suas variantes associadas a fatores ambientais contribuem para o desenvolvimento do fenótipo hipertenso. O gene da subunidade beta 3 da proteína G ( GNB3 ) está envolvido no processo de sinalização intracelular e suas variantes têm sido relacionadas à suscetibilidade à hipertensão arterial. Objetivo Determinar a associação da variante GNB3 (rs5443:C>T) com a hipertensão arterial, parâmetros bioquímicos, idade e obesidade em indivíduos hipertensos e normotensos de Ouro Preto, Minas Gerais. Método A identificação das variantes foi realizada por PCR em tempo real, utilizando o sistema TaqMan®, em amostras de 310 pacientes (155 hipertensos e 155 normotensos). Análises bioquímicas (função renal, perfil lipídico e glicemia) foram realizadas a partir do soro por meio de espectrofotometria UV/Vis e eletrodo íon-seletivo. Foi utilizado um modelo de regressão logística múltipla para identificar fatores associados à hipertensão arterial. A análise das variáveis contínuas com distribuição normal foi realizada usando o teste t de Student não pareado; dados não normais foram analisados usando o teste de Mann-Whitney. Valores de p < 0,05 foram considerados significativos. Resultados A variante rs5443:C>T não esteve associada à hipertensão arterial na população avaliada (p = 0,88). Em relação às medidas bioquímicas, o alelo T esteve associado a níveis elevados de triglicerídeos, glicose e ácido úrico em indivíduos hipertensos (p < 0,05). Conclusão Os presentes resultados mostram a importância do diagnóstico genético para prevenir as causas e consequências de doenças e sugerem que a variante GNB3 rs5443:C>T pode estar associada a alterações no perfil bioquímico em indivíduos hipertensos.

Abstract Background Genes and their variants associated with environmental factors contribute to the development of the hypertensive phenotype. The G protein beta 3 subunit gene (GNB3) is involved in the intracellular signaling process, and its variants have been related to susceptibility to arterial hypertension. Objective To determine the association of the GNB3 variant (rs5443:C>T) with arterial hypertension, biochemical parameters, age, and obesity in hypertensive and normotensive individuals from Ouro Preto, Minas Gerais, Brazil. Method The identification of variants was performed by real-time PCR, using the TaqMan® system, in 310 samples (155 hypertensive and 155 normotensive). Biochemical analyses (renal function, lipid profile and glycemia) were performed from the serum using UV/Vis spectrophotometry and ion-selective electrode. A multiple logistic regression model was used to identify factors associated with arterial hypertension. The analysis of continuous variables with normal distribution was performed using the unpaired Student's t test; non-normal data were analyzed using Mann-Whitney. P < 0.05 was considered significant. Results The rs5443:C>T variant was not associated with arterial hypertension in the evaluated population (p = 0.88). Regarding biochemical measures, the T allele was associated with high levels of triglycerides, glucose and uric acid in hypertensive individuals (p < 0.05). Conclusion These results show the importance of genetic diagnosis to prevent the causes and consequences of diseases and imply that the GNB3 rs5443:C>T variant may be associated with changes in the biochemical profile in hypertensive individuals.

Análisis molecular y filogenético del genotipo F de Chlamydia trachomatis aislados en México en 2011 / Molecular and phylogenetic analysis of the F genotype of Chlamydia trachomatis isolated in Mexico in 2011

Resumen Antecedentes: Chlamydia trachomatis es la bacteria que se detecta con mayor frecuencia en las infecciones de transmisión sexual. Se han identificado 20 genotipos de C. trachomatis mediante el gen ompA y varias genovariantes mediante el análisis de polimorfismo de un solo nucleótido (SNP). En México, el genotipo F es el más frecuente. Objetivo: Identificar la existencia de subtipos del genotipo F. Método: Se analizaron siete cepas del genotipo F de C. trachomatis aisladas en 2011, mediante secuenciación de nucleótidos y mapeo con enzimas de restricción. Resultados: El análisis de SNP mostró dos cepas con el mismo SNP en el nucleótido 288 (C288T), mientras que con enzimas de restricción se identificó una variante con diferente RFLP (polimorfismo de la longitud de fragmentos de restricción) cuando se tratan con la mezcla de enzimas HinfI y TaqI. Conclusión: En México se encuentran dos subtipos del genotipo F y solo las enzimas de restricción HinfI y TaqI pueden identificar la existencia de uno de estos genotipos F.

Abstract Background: Chlamydia trachomatis is the most frequently identified bacterium in sexually transmitted infections. Twenty C. trachomatis genotypes have been determined using the ompA gene and several genovariants by single nucleotide polymorphism (SNP) analysis. In Mexico, the F genotype is the most frequent. Objective: To identify subtypes of the F genotype. Method: Seven C. trachomatis genotype F strains isolated in 2011 were analyzed by nucleotide sequencing and restriction enzyme mapping. Results: SNP analysis showed two strains with the same SNP at nucleotide 288 (C288T), while with res-triction enzymes, a variant with different RFLP (restriction fragment length polymorphism) was identified when treated with the mixture of HinfI and TaqI enzymes. Conclusion: In Mexico, there are two subtypes of F, and only with restriction enzymes HinfI and TaqI can identify one of the genovariants of the F genotype.

Identificación de Mycobacteria no pigmenteda de crecimiento rápido por el Método Molecular de Micobacterium de Genotipo CM / Identification of Fast-Growing Non-Pigmented Mycobacteria by the Genotype® Mycobacterium CM Molecular Method

Introducción: la micobacteria no terberculosa (NTM) forma un grupo heterogéneo de microorganismos que pueden causar infección en humanos. Las micobacterias no pigmentadas de rápido crecimiento (MNPCR) son de interés clínico debido al creciente número de pacientes infectados por ellos y a la dificultad del tratamiento. Dentro de este grupo, Mycobacterium fortuitum, Mycobacterium abscessus y Mycobacterium chelonae son reconocidos como patógenos potenciales; estas especies se han aislado de infecciones pulmonares y extrapulmonares. Objetivo: el objetivo de este trabajo es encontrar la frecuencia de aislamiento de especies micobacterianas de rápido crecimiento, específicamente el complejo Mycobacterium fortuitum, de muestras clínicas utilizando la técnica molecular de diagnóstico GenoType Mycobacterium CM. Material y Método: se analizaron 249 aislados de micobacterias no tuberculosas obtenidas de muestras pulmonares y extrapulmonares de pacientes sintomáticos en el período enero 2018-diciembre de 2022. La técnica molecular GenoType Mycobacterium CM se utilizó para identificar la especie. Resultados: Se obtuvieron 77 (3,9%) aislados de especies no pigmentadas de rápido crecimiento, estas se identificaron en orden decreciente: Mycobacterium fortuitum 65 (84,41%), Mycobacterium abcessus 9 (11,68%) y Mycobacterium chelonae 3 (4%). Conclusiones: los resultados reafirman que el complejo Mycobacterium fortuitum es responsable de la mayoría de las infecciones causadas por la micobacteria en rápido crecimiento en humanos. La técnica diagnóstica GenoType Mycobacterium CM es una herramienta útil para la rápida identificación de micobacterias; proporciona resultados precisos en menos tiempo, acortando significativamente el tiempo diagnóstico, permite la aplicación temprana de tratamiento específico, evitando así la propagación de la infección.

Introduction: non-tuberculous mycobacteria (NTM) form a heterogeneous group of mi-croorganisms that can cause infection in humans. Fast-growing non-pigmented my-cobacteria (MNPCR) are of clinical interest due to the increasing number of patients infected by them and the difficulty of treatment. Within this group, Mycobacterium fortuitum, Mycobacterium abscessus and Mycobacterium chelonae are recognized as potential pathogens; these species have been isolated from both pulmonary and ex-trapulmonary infections. Objective: the objective of this work is to find the frequency of isolation of fast-growing non-pigmented mycobacterial species, specifically the Myco-bacterium fortuitum complex, from clinical samples using the GenoType® Mycobacteri-um CM diagnostic molecular technique. Material and Method: 249 isolates of non-tu-berculous mycobacteria obtained from pulmonary and extrapulmonary samples from symptomatic patients in the period January 2018-December 2022 were analyzed. The G e n oTy p e® Mycobacterium CM molecular technique was used to identify the species. Results: 77 (30.9%) isolates of fast-growing non-pigmented species were obtained, these were identified in decreasing order: Mycobacterium fortuitum 65 (84.41%), Myco-bacterium abcessus 9 (11.68%) and Mycobacterium chelonae 3 (4%). Conclusions: the results reaffirm that the Mycobacterium fortuitum complex is responsible for most in-fections caused by fast-growing mycobacteria in humans. The GenoType® Mycobacte-riumCM diagnostic technique is a useful tool for the rapid identification of mycobacte-ria; it provides accurate results in less time, significantly shortening the diagnostic time, it allows the early application of specific treatment, thus avoiding the spread of infec-tion.

Frequencies of genetic variants of the Rh, Kell, Duffy, Kidd, MNS and Diego systems of northwest Rio Grande do Sul, Brazil

ABSTRACT Introduction: To date, 340 antigen-organized 43 blood group systems are recognized, being ABO, Rh, Kell, Duffy, Kidd, MNS and Diego the most clinically relevant. The aim of this study was to assess the distribution of alleles and genotypes of the blood group systems Rh, Kell, Duffy, Kidd, MNS and Diego in 810 blood donors registered in the hemotherapy unit in northwest Rio Grande do Sul, Brazil Methods: We evaluated the genetic variability of blood groups Rh (c.676G>C and c.307C>T), Kell (c.578C>T), Kidd (c.838A>G), Duffy (c.125A>G and c.l-67T>C), Diego (c.2561C>T) and MNS (c.143T>C) in 810 volunteer blood donors of Rio Grande do Sul, southern Brazil. The genetic profiling was performed through allelic discrimination assays using hydrolysis probes (TaqMan®) real-time PCR system. Results: The most frequent blood group genotypes found in our study population were: RHC*Cc (51.5%), RHC*ee (70.1%), FY*A/FY*B (49.3%), GATA -67T/T (93.5%), KEL*2/KEL*2 (93.4%), Jk*A/JK*B (53.2%) and DI*02/DI*02 (95.4%). Some statistical differences were observed on comparing the population of this study with populations from other states in Brazil, mainly with population of Minas Gerais, Bahia and Paraná, which showed some differences from the population of Porto Alegre, which was more similar to those of Santa Catarina and São Paulo Conclusion: The frequency of red blood cell polymorphisms in our study is different from that of blood donors in other regions of Brazil. The results showed the importance of extended genotyping in adequate blood screening and the existence of rare genotypes in Brazilian regular blood donors

Phenotypic and genotypic characterization of Colombian clinical isolates of Sporothrix spp

Introduction. For over a century, Sporothrix schenckii was considered the sole species responsible for sporotrichosis. In 2007, scientific community confirmed the disease could be caused by various Sporothrix species. These species differed in their virulence factors and their antifungal sensitivity. Objective. This study aims to characterize 42 Colombian clinical isolates of Sporothrix spp. phenotypically and genotypically. Material and methods. Forty-two clinical isolates were characterized using phenotypic methods. It involved various culture media to determine their growth range at different temperatures and to assess the type and distribution of pigment and colony texture. Microscopic morphology was evaluated through microcultures, as well as the conidia diameter, type of sporulation, and morphology. Additionally, the assimilation of carbohydrates was selected as a physiological trait for species identification. Genotyping of 40 isolates was performed through partial amplification of the calmodulin gene, followed by sequence analysis. Results. Molecular studies enabled the identification of 32 isolates of S. schenckii and 8 isolates of S. globosa. The combination of phenotypic and genotypic methods eased these species characterizations and the recognition keys development based on parameters such as growth diameter at 25 and 30 °C, colony texture (membranous or velvety) on potato dextrose agar, and microscopic morphology with predominance of pigmented triangular, elongated oval globose, or subglobose conidia. Conclusions. Confirmation of the phenotypic characteristics and molecular analysis is crucial for identifying Sporothrix species and determining adequate treatment. This study represents the first phenotypical and genotypical characterization of clinical isolates of Sporothrix spp. reported in Colombia.

Introducción. Por más de un siglo se creyó que Sporothrix schenckii era la única especie responsable de la esporotricosis. Sin embargo, en el 2007, se consideró que podría ser causada por diferentes especies de Sporothrix, que difieren en sus factores de virulencia y su sensibilidad a los antifúngicos. Objetivo. Caracterizar fenotípica y genotípicamente 42 aislamientos clínicos colombianos de Sporothrix spp. Materiales y métodos. Se caracterizaron 42 aislamientos clínicos mediante métodos fenotípicos. Se usaron varios medios de cultivo para determinar el rango de crecimiento a diferentes temperaturas, el tipo y la distribución del pigmento, y la textura de las colonias. Se evaluó la morfología microscópica por microcultivos mediante la determinación del diámetro, el tipo de esporulación y la morfología de las conidias. La asimilación de carbohidratos se usó como una característica fisiológica para identificar las especies. La genotipificación de los 40 aislamientos se llevó a cabo mediante la amplificación parcial del gen que codifica para la calmodulina y se confirmó por secuenciación. Resultados. Mediante estudios moleculares, se identificaron 32 aislamientos de S. schenckii y ocho de S. globosa. La combinación de métodos fenotípicos y genotípicos permitió caracterizar las especies y construir claves para su reconocimiento, con base en parámetros como el diámetro de crecimiento a 25 y 30 °C, la textura de las colonias (membranosa, aterciopelada) en agar papa dextrosa y la morfología microscópica con predominio de conidias (triangulares pigmentadas, ovales globosas elongadas, subglobosas). Conclusiones. La caracterización fenotípica y los análisis moleculares son necesarios para identificar las especies de Sporothrix y, de esta forma, elegir el tratamiento indicado. Esta es la primera caracterización fenotípica y genotípica reportada de aislamientos clínicos colombianos de Sporothrix spp.

Next-generation sequencing-based genetic testing and phenotype correlation in retinitis pigmentosa patients from India

Purpose: Inherited retinal dystrophies (IRD) are a heterogeneous group of retinal diseases leading to progressive loss of photoreceptors through apoptosis. Retinitis pigmentosa (RP) is considered the most common form of IRD. Panel?based testing in RP has proven effective in identifying the causative genetic mutations in 70% and 80% of the patients. This is a retrospective, observational, single?center study of 107 RP patients who had undergone next?generation sequencing?based targeted gene panel testing for IRD genes. These patients were inspected for common phenotypic features to arrive at meaningful genotype–phenotype correlation. Methods: Patients underwent complete ophthalmic examination, and blood was collected from the proband for DNA extraction after documenting the pedigree. Targeted Next Generation Sequencing (NGS) was done by panel?based testing for IRD genes followed by co?segregation analysis wherever applicable. Results: Of the 107 patients, 72 patients had pathogenic mutations. The mean age of onset of symptoms was 14 ± 12 years (range: 5–55). Mean (Best Corrected Visual Acuity) BCVA was 6/48 (0.9 logMAR) (range 0.0–3.0). At presentation, over one?third of eyes had BCVA worse than 6/60 (<1 logMAR). Phenotype analysis with the gene defects showed overlapping features, such as peripheral well?defined chorioretinal atrophic patches in patients with CERKL, PROM1, and RPE65 gene mutations and large macular lesions in patients with RDH12 and CRX gene mutations, respectively. Nummular or clump?like pigmentation was noted in CRB1, TTC8, PDE6A, and PDE6B. Conclusion: NGS?based genetic testing can help clinicians to diagnose RP more accurately, and phenotypic correlations can also help in better patient counselling with respect to prognosis and guidance regarding ongoing newer gene?based therapies.

Investigation of Chikungunya virus genotype at tertiary care center in Western Maharashtra, India

Background & objectives: Chikungunya is a reemerging arbovirus infection. Laboratory diagnosis can be done by Classical test involving Rapid Immunochromatography, Enzyme-Linked Immunosorbent assay and Molecular methods. The present study was undertaken to know the genotype of the Chikungunya virus (CHICKV) among patients suspected of CHICKV and investigated by virus culture, partial sequencing, Rapid Immunochromatography, and Enzyme-linked Immunosorbent assay (ELISA). To understand different techniques used in Chikungunya diagnosis viz., virus culture, partial sequencing along with Immunochromatography and ELISA. Methods: This is a prospective, laboratory-based study at a tertiary care center. Lateral flow chromatography and ELISA was carried out on serum samples. All 50 samples were cultured and indirect Immunofluorescence was performed on positive samples at Interactive Research School for Health Affairs (IRSHA), Bharati Vidyapeeth Medical College Pune, Maharashtra, India. Virus isolates were subjected to partial sequencing for identification of genotype after confirmation by PCR. Statistical Package of Social Science (SPSS) version 22.0 software was used to calculate the Receiver operating curve (ROC) for different tests. Results: Out of 50 samples, 20 were positive by Immunochromatography, 23 by ELISA, and 3 by culture, PCR confirmed CHIKV isolates and sequencing identified genotypes as East Central South African type. Interpretation & conclusion: CHIKV culture isolates of East Central South African type lineage were predominantly found in the present study. These are also common genotypes present in Asia including India.

Epidemiological surveillance of Human Papillomavirus (HPV) genotypes in oral and genital tracts and the impact of HPV vaccination on male university students from Rio de Janeiro state, Brazil / Vigilância Epidemiológica dos genótipos de papilomavírus humano (HPV) nos tratos oral e genital e o impacto da vacinação em estudantes universitários do sexo masculino do estado do Rio de Janeiro, Brasil

Introduction: Human Papillomavirus (HPV) infections are of significant concern in men, given its potential impact on their health and the risk of transmission to partners. Understanding and addressing this infection in men is crucial to evaluate the effectiveness of vaccination in reducing HPV-related diseases. Objective: To assess the impact of HPV vaccination, potential genotype shifts, and adverse effects, through a prospective study conducted with male university students. Methods:The study involved 286 volunteers who were examined at Sexually Transmitted Disease Clinics at the Universidade Federal Fluminense in Niterói, Rio de Janeiro, Brazil. The HPV prevalence was evaluated using generic PCR, genotyped by DNA microarray and monitored adverse effects. Results: The findings of this study revealed the absence of moderate or severe adverse effects. Genetic shifts were observed, including the disappearance of oncogenic HPV types 16 and 18. Surprisingly, even after completing the full vaccine regimen, students still harbored HPV11 in the oral tract. Furthermore, persistent HPV 6 and 11 infections were identified in three students, who had pre-existing infections prior to vaccination, at the follow-up visit. Multivariate analysis uncovered independent associations, notably an increased risk of HPV infection in the oral tract among men who have sex with men. HPV prevalence rates remained low both before and after the vaccination scheme (T0: 14.7%, T1: 8.7%). Even after the full vaccination scheme, the prevalence remained similar at T2 (14.6%), with no statistically significant differences recorded. HPV11 emerged as the most prevalent type throughout the study, followed by HPV6. Vaccine genotypes were detected in a significant proportion of samples at T0 (85.4%), T1 (89.5%), and T2 (100%). Conclusion: Overall, this study suggests that vaccination may represent a promising approach to reducing HPV-related health risks. These findings shed light on the potential benefits and challenges of HPV vaccination, emphasizing the need for continued monitoring and vaccination efforts

Introdução: As infecções por papilomavírus humano (HPV) são de grande preocupação em homens, dada sua possível influência na saúde deles e no risco de transmissão para parceiros. Compreender e abordar essa infecção em homens é fundamental para avaliar a eficácia da vacinação na redução de doenças relacionadas ao HPV. Objetivo: Avaliar o impacto da vacinação contra o HPV, possíveis alterações genotípicas e efeitos adversos, por meio de um estudo prospectivo realizado em estudantes universitários do sexo masculino. Métodos: O estudo envolveu 286 voluntários examinados em Clínicas de Doenças Sexualmente Transmissíveis na Universidade Federal Fluminense, em Niterói, Rio de Janeiro, Brasil. A prevalência do HPV foi avaliada por polymerase chain reaction (PCR) genérico e genotipada por microarranjo de DNA, e foram monitorados os efeitos adversos. Resultados: Os resultados deste estudo revelaram a ausência de efeitos adversos moderados ou graves. Observaram-se mudanças genéticas, incluindo o desaparecimento dos tipos oncogênicos do HPV 16 e 18. Surpreendentemente, mesmo após a conclusão do esquema completo de vacinação, os estudantes ainda abrigavam o HPV 11 na cavidade oral. Além disso, foram identificadas infecções persistentes pelo HPV 6 e 11 em três estudantes que já tinham infecções preexistentes antes da vacinação e na visita de acompanhamento. A análise multivariada revelou associações independentes, especialmente um aumento no risco de infecção pelo HPV na cavidade oral em homens que têm relações sexuais com homens. As taxas de prevalência do HPV permaneceram baixas tanto antes quanto depois do esquema de vacinação (T0: 14,7%, T1: 8,7%). Mesmo após a conclusão do esquema de vacinação, a prevalência permaneceu semelhante em T2 (14,6%), sem diferenças estatisticamente significativas registradas. O HPV 11 emergiu como o tipo mais prevalente ao longo do estudo, seguido pelo HPV 6. Genótipos da vacina foram detectados em uma proporção significativa de amostras em T0 (85,4%), T1 (89,5%) e T2 (100%). Conclusão: No geral, este estudo sugere que a vacinação pode representar uma abordagem promissora para a redução dos riscos à saúde relacionados ao HPV. Esses achados lançam luz sobre os benefícios e desafios potenciais da vacinação contra o HPV, enfatizando a necessidade de monitoramento contínuo e esforços de vacinação

Association of rs142548867 (EEFSEC) and periodontitis Grade C in a young Brazilian population

Abstract Periodontitis Stage III-IV, Grade C (PerioC) is a severe form of Periodontitis. The individual genetic background has been shown to be an important etiopathogenic factor for the development of this disease in young, systemically healthy, and non-smokers patients. Recently, after exome sequencing of families with a history of the disease, PerioC was associated with three single nucleotide variations (SNVs) - rs142548867 (EEFSEC), rs574301770 (ZNF136), and rs72821893 (KRT25) - which were classified as deleterious or possibly harmful by prediction algorithms. Objective Seeking to validate these findings in a cohort evaluation, this study aims to characterize the allele and genotypic frequency of the SNVs rs142548867, rs574301770, and rs72821893 in the Brazilian population with PerioC and who were periodontally healthy (PH). Methodology Thus, epithelial oral cells from 200 PerioC and 196 PH patients were harvested at three distinct centers at the Brazilian Southern region, their DNA were extracted, and the SNVs rs142548867, rs574301770, rs72821893 were genotyped using 5′-nuclease allelic discrimination assay. Differences in allele and genotype frequencies were analyzed using Fisher's Exact Test. Only the SNV rs142548867 (C > T) was associated with PerioC. Results The CT genotype was detected more frequently in patients with PerioC when compared with PH subjects (6% and 0.5% respectively), being significantly associated with PerioC (odds ratio 11.76, p=0.02). Conclusion rs142548867 represents a potential risk for the occurrence of this disease in the Brazilian population.

Association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis / Associação entre as características fenotípicas, genotípicas e a gravidade da doença em indivíduos com fibrose cística

Abstract Objective: To analyze the association between phenotypic and genotypic characteristics and disease severity in individuals with cystic fibrosis treated at a reference center in Minas Gerais, Brazil. Methods: This is a retrospective study that collected clinical and laboratory data, respiratory and gastrointestinal manifestations, type of treatment, Shwachman-Kulczycki score, and mutations from the patients' medical records. Results: The sample included 50 participants aged one to 33 years, 50% of whom were female. Out of the one hundred alleles of the Cystic Fibrosis Transmembrane Conductance Regulator gene, the most prevalent mutations were DeltaF508 (45%) and S4X (18%). Mutation groups were only associated with pancreatic insufficiency (p=0.013) and not with disease severity (p=0.073). The latter presented an association with colonization by Pseudomonas aeruginosa and Staphylococcus aureus (p=0.007) and with underweight (p=0.036). Death was associated with age at diagnosis (p=0.016), respiratory symptomatology (p=0.013), colonization (p=0.024), underweight (p=0.017), and hospitalization (p=0.003). Conclusions: We could identify the association of mutations with pancreatic insufficiency; the association of Staphylococcus aureus colonization and underweight with disease severity; and the lack of association between mutations and disease severity. Environmental factors should be investigated more thoroughly since they seem to have an important effect on disease severity.

RESUMO Objetivo: Analisar a associação entre as características fenotípicas, genotípicas e a gravidade da doença em indivíduos com fibrose cística atendidos em um centro de referência de Minas Gerais, Brasil. Métodos: Trata-se de um estudo retrospectivo, em que os dados clínicos, laboratoriais, as manifestações respiratórias e gastrointestinais, o tipo de tratamento, o escore de Shwachman-Kulczycki e as mutações foram coletados dos prontuários de registros dos pacientes. Resultados: A amostra incluiu 50 participantes, de um a 33 anos de idade, sendo 50% do sexo feminino. Do total de cem alelos do gene Cystic Fibrosis Transmembrane Conductance Regulator, as mutações mais prevalentes foram Delta F508 (45%) e S4X (18%). Os grupos de mutações apresentaram associação somente (p=0,013) com a insuficiência pancreática e não com a gravidade da doença (p=0,073). Esta última apresentou associação com a colonização por Pseudomonas aeruginosa e Staphylococcus aureus (p=0,007) e com baixo peso (p=0,036). O óbito foi associado com a idade no diagnóstico (p=0,016), a sintomatologia respiratória (p=0,013), a colonização (p=0,024), o baixo peso (p=0,017) e a ocorrência de internação (p=0,003). Conclusões: Foi possível observar associação entre as mutações e a presença de insuficiência pancreática; entre a colonização por Staphylococcus aureus e o baixo peso com a gravidade da doença; e ausência de associação entre as mutações e a gravidade da doença. Os fatores ambientais merecem ser investigados mais detalhadamente, pois parecem apresentar impacto importante na gravidade da doença.

Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants

Abstract Studies have reported that >91.9% of non-syndromic tooth agenesis cases are caused by seven pathogenic genes. Objective To report novel heterozygous PAX9 variants in a Chinese family with non-syndromic oligodontia and summarize the reported genotype-phenotype relationship of PAX9 variants. Methodology We recruited 28 patients with non-syndromic oligodontia who were admitted to the Hospital of Stomatology Hebei Medical University (China) from 2018 to 2021. Peripheral blood was collected from the probands and their core family members for whole-exome sequencing (WES) and variants were verified by Sanger sequencing. Bioinformatics tools were used to predict the pathogenicity of the variants. SWISS-MODEL homology modeling was used to analyze the three-dimensional structural changes of variant proteins. We also analyzed the genotype-phenotype relationships of PAX9 variants. Results We identified novel compound heterozygous PAX9 variants (reference sequence NM_001372076.1) in a Chinese family with non-syndromic oligodontia: a new missense variant c.1010C>A (p.T337K) in exon 4 and a new frameshift variant c.330_331insGT (p.D113Afs*9) in exon 2, which was identified as the pathogenic variant in this family. This discovery expands the known variant spectrum of PAX9; then, we summarized the phenotypes of non-syndromic oligodontia with PAX9 variants. Conclusion We found that PAX9 variants commonly lead to loss of the second molars.

Effects of hepatitis C virus genotypes and viral load on glucose and lipid metabolism after sustained virological response with direct-acting antivirals

SUMMARY OBJECTIVE: The objective of this study, carried out at the university hospital of the Federal University of Rio Grande, was to assess whether the treatment of chronic hepatitis C with direct-acting antivirals and the sustained virological response will affect the metabolic influences of the hepatitis C virus and whether these effects will vary according to genotypes and virus load. METHODS: This is an intervention pre-post study, carried out from March 2018 to December 2019, evaluating 273 hepatitis C virus patients treated with direct-acting antivirals. Inclusion criteria included being monoinfected with hepatitis C virus and achieving sustained virological response . Exclusion criteria included the presence of decompensated cirrhosis or co-infected with hepatitis B virus or human immunodeficiency virus. Genotypes, genotype 1 subtypes, and hepatitis C virus viral load were analyzed. Glucose metabolism was evaluated by the Homeostasis Model Assessment-insulin resistance indices: Homeostasis Model Assessment-β, TyG, and HbA1c, measured at the beginning of treatment and in sustained virological response. Statistical analysis with a T test by paired comparison of the means of the variables in the pretreatment and in the sustained virological response. RESULTS: Homeostasis Model Assessment-insulin resistance analysis: there were no significant differences between pretreatment and sustained virological response. Homeostasis Model Assessment-β analysis: significant increase in genotype 1 patients (p<0.028). TyG index analysis: significant increase in genotype 1b (p<0.017), genotype 3 (p<0.024), and genotype non-1 with low viral load (p<0.039). HbA1c analysis: significant decrease in genotype 3 (p<0.001) and genotype non-1 patients with low viral load (p<0.005). CONCLUSION: We detected significant metabolic influences after sustained virological response: impairment in lipid profile and improvements in the glucose metabolism. We found significant differences in genotype dependence, genotype 1 subtypes, and viral load.

Prevalence and distribution of hepatitis C among high-risk populations in Pudong New Area, Shanghai City / 中华传染病杂志

Objective:To investigate the prevalence of positive hepatitis C virus (HCV) antibody, HCV RNA and genotype distribution of HCV in high-risk populations in Pudong New Area, Shanghai City, so that to provide evidence for making "hepatitis C micro elimination" strategies in Shanghai area.Methods:A survey with proportional sampling method was conducted among the high-risk populations, including people who inject drugs (PWID), voluntarily or compulsorily accepted drug detoxification or methadone treatment, human immunodeficiency virus voluntary counseling and testing (HIV VCT) outpatients, sexually transmitted disease (STD) outpatients, and commercial sex workers, who participated in the routine physical examination activities held by the community health service centers and public hospitals of Pudong New Area from July 2021 to November 2022. The residual plasma samples were collected from medical examinations. HCV antibody was tested in all samples. HCV RNA and HCV genotype were tested in samples with positive HCV antibody results.Results:A total of 1 000 HCV high-risk people were screened, including 453 PWID, 166 human immunodeficiency virus (HIV) infectors, 245 STD outpatients, and 136 commercial sex workers. The positive rates of HCV antibody in the four categories of personnel were 21.85%(99/453), 1.81%(3/166), 1.22%(3/245) and 0(0/136), respectively. The positive rate of HCV RNA was 42.68%(35/82) among HCV antibody positive people in high-risk populations. As much as 74.29%(26/35) of HCV RNA positive people had junior high school education or less, and 77.14%(27/35) of them were not married. Among the 12 samples tested for HCV genotype, five were genotype 3, five were genotype 6, and two were subtype 1b.Conclusions:PWID is the main high-risk HCV infection population, who should be the target of the following "hepatitis C micro elimination" strategies. The proportions of genotype 3 and genotype 6 are high in the high-risk HCV infection populations, and the pan-genotype direct-acting antiviral agent treatment may be more suitable in this situation. HCV infected persons in high-risk groups have low education level and marriage rate, which indicates that education and care in community are needed.

Research progress on sex hormone-binding globulin involved in the occurrence and development of diabetes mellitus / 中国基层医药

Sex hormone-binding globulin (SHBG) is significantly associated with abnormal glucose metabolism. Low SHBG level is a risk factor for insulin resistance and the occurence of diabetes mellitus. SHBG is negatively correlated with the risk of type 2 diabetes mellitus and plays an important role in regulating insulin resistance while predicting its development. The genotype of SHBG has been found to be closely related to the occurrence of diabetes mellitus. Fatty liver and DNA methylation are also important factors mediating the relationship between SHBG and type 2 diabetes mellitus. The change in SHBG level may be related to insulin resistance by influencing hepatocyte nuclear factor 4a and regulating glucose transporter.

Relationship between histone deacetylase gene polymorphism and type 2 diabetes mellitus in Bai and Han populations in Dali of Yunnan Province / 中国基层医药

Objective:To investigate the relationship between histone deacetylase (HDAC) gene polymorphism and type 2 diabetes mellitus (T2DM) in Bai and Han populations in Dali of Yunnan province.Methods:A total of 148 patients with T2DM of Bai and Han nationalities who received treatment in Dali Bai Autonomous Prefecture People's Hospital from May 2019 to March 2021 were included in the T2DM group. An additional 100 healthy controls of Bai and Han nationalities who concurrently received physical examination in the same hospital from May 2019 to December 2020 were included in the normal control group. The susceptibility genes of T2DM were detected using the Taqman MGB probe method. The susceptibility gene loci were amplified using polymerase chain reaction. The whole sequence of susceptibility gene was sequenced.Results:There were no significant differences in the distribution frequencies of rs2530223 genotype, rs11741808 genotype, rs2547547 genotype, and rs1741981 genotype between Bai and Han populations (all P > 0.05). There was a significant difference in blood lipid level between four loci ( t = -1.06, -0.19, 0.39, -2.12, -2.04, 0.16, 1.47, < 0.01, -0.16, -3.17, -2.93, 0.69, -2.58, -2.33, all P < 0.05). There was a significant difference in homeostasis model assessment of insulin resistance between different states (all P < 0.05). The frequency distributions of each genotype and each allele did not differ significantly between healthy control people of Bai nationality and T2DM patients of Bai nationality and between healthy control people of Han nationality and T2DM patients of Han nationality (all P > 0.05). Logistic regression analysis showed that the polymorphism was not an independent risk factor for T2DM. Conclusion:The relationships between HDAC gene polymorphism and T2DM, obesity and dyslipidemia differ between Bai and Han populations.

Screening and genotyping of thalassemia in Ningbo / 中华地方病学杂志

Objective:To study the genotyping of thalassemia in Ningbo population and provide a reference basis for future prevention and control of thalassemia in Ningbo.Methods:Patients with suspected thalassemia attending Ningbo Women and Children's Hospital from January 2019 to March 2022 were selected for the study, and DNA was extracted from dried blood spot specimens by collecting peripheral blood, and detection of thalassemia hotspot variants was performed by fluorescence PCR melting curve analysis combined with Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA).Results:A total of 2 680 cases were included in the patients with suspected thalassemia, and 1 426 cases of thalassemia gene carriers were detected, with an overall detection rate of 53.2%. Among them, 595 cases (41.7%) were α-thalassemia, with -- SEA/αα, αα/-α 3.7 and -- SEA/-α 3.7 being more common; 807 cases (56.6%) were β-thalassemia, with β IVS-Ⅱ-654/β N, β CD41-42/β N and β CD17/β N being more common; 24 cases (1.7%) were αβ-combined thalassemia. Among them, six rare variant types were included, including fusion gene (Fusion), -- FIL, HBA2:c.376C>T, CD8/9(+G), IVS-Ⅰ-2(T>C) and IVS-Ⅱ-1(G>A), all of which were reported for the first time in Ningbo. Conclusion:Among suspected thalassemia patients in Ningbo, the detection rate of thalassemia is high, and the types of gene variants are complex, so the awareness of thalassemia gene testing for anemic patients should be raised.