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1.
Braz. j. biol ; 84: e253696, 2024. graf
Article in English | LILACS, VETINDEX | ID: biblio-1355862

ABSTRACT

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.


Subject(s)
Solanum melongena/genetics , Solanum melongena/metabolism , Photosynthesis , Heat-Shock Response , Fatty Alcohols , Antioxidants/metabolism , Antioxidants/pharmacology
2.
Rev. bras. med. esporte ; 28(1): 46-49, Jan.-Mar. 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1357116

ABSTRACT

ABSTRACT Introduction: Using gene therapy to transfer specific genes to implant therapeutic proteins into damaged tissues is a more promising way to treat sports injuries. The combination of tissue engineering and gene therapy will potentially promote the regeneration and repair of various damaged tissues. Objective: This article explores the adaptive relationship between gene selection therapy and athletes in sports. Methods: We selected students of related majors in sports schools to conduct specific genetic testing and measure the muscle area, fatigue level, muscle damage, and other related indicators before and after exercise. Results: After a series of physical fitness assessments, an increase in the gene sequence, as well as changes in the biochemical indices, were confirmed Conclusions: The muscle gain of the test subject during training is better than other genotypes. Level of evidence II; Therapeutic studies - investigation of treatment results.


RESUMO Introdução: A terapia gênica para transferir genes específicos para codificar proteínas terapêuticas para tecidos danificados é uma forma bastante promissora de tratar lesões esportivas. A combinação de engenharia de tecidos e terapia gênica possivelmente promoverá regeneração e reparo de vários tecidos danificados. Objetivo: Este artigo explora a relação adaptativa entre a terapia de seleção gênica e atletas no esporte. Métodos: Selecionamos alunos universitários nas escolas de esportes para realizar testes genéticos específicos e medir a área muscular, nível de fadiga, lesões musculares e outros indicadores relacionados antes e depois do exercício. Resultados: Depois de uma série de avaliações da aptidão física, verificou-se aumento da sequência gênica, assim como índices bioquímicos também apresentaram alterações. Conclusões: O ganho muscular dos indivíduos testados durante o treinamento é melhor do que outros genótipos. Nível de Evidência II; Estudos terapêuticos - Investigação dos resultados do tratamento.


RESUMEN Introducción: La terapia génica para transferir genes específicos que codifiquen proteínas terapéuticas a los tejidos dañados es una forma muy prometedora de tratar las lesiones deportivas. La combinación de ingeniería tisular y terapia génica posiblemente favorecerá la regeneración y reparación de diversos tejidos dañados. Objetivo: Este artículo explora la relación adaptativa entre la terapia de selección génica y los atletas en el deporte. Métodos: Se seleccionaron estudiantes universitarios de escuelas deportivas para realizar pruebas genéticas específicas y medir el área muscular, el nivel de fatiga, las lesiones musculares y otros indicadores relacionados antes y después del ejercicio. Resultados: Tras una serie de evaluaciones de acondicionamiento físico, se comprobó un aumento de la secuencia génica, y los índices bioquímicos también presentaron cambios. Conclusiones: El aumento de la masa muscular de los individuos analizados durante el entrenamiento es mejor que el de otros genotipos. Nivel de Evidencia II; Estudios terapéuticos - Investigación de los resultados del tratamiento.

3.
Braz. dent. sci ; 25(3): 1-8, 2022. tab, ilus
Article in English | LILACS, BBO | ID: biblio-1378417

ABSTRACT

Objective and background: Periodontitis is an inflammatory disease which is characterized by a progressive loss in the matrix of soft and hard tissue of periodontium particularly the collagen fibers which are cleaved by matrix Metalloproteinase (MMP). Indeed, increased activity of MMP mediates progression of periodontal diseases but population-based genetic variations could determine the susceptibility to the disease. The aim was to investigate association between MMP-1-1607 polymorphism with periodontitis among Iraqi individuals. Subjects and methods: The design of this study was a case-control for Iraqi individuals who were divided into two groups; periodontitis group (cases) and those with healthy periodontium (Control). For each subject, clinical periodontal parameters and demographic characteristics were recorded and venous blood was withdrawn for genetic analysis of MMP-1 by using PCR technique and DNA sequencing. Results: Analysis of MMP-1-1607 genotypes, by Hardy-Weinberg equilibrium, showed significant differences in the total sample. The most predominant MMP-1-1607 genotype among Controls was 1G/2G which was significantly different from periodontitis cohorts. Overall, 13 SNP were detected in periodontitis group versus 17 SNP in Control group. In addition, the periodontitis group showed a significant negative association between the probing pocket depth and MMP-1-1607. Conclusion: Results suggested that polymorphisms in MMP-1-1607 1G/2G may play a protective role and decreasing the susceptibility to periodontitis. (AU)


Introdução e objetivo: A periodontite é uma doença inflamatória caracterizada pela perda progressiva da matriz dos tecidos moles e duros do periodonto, particularmente as fibras de colágeno clivadas pelas metaloproteinases da matriz (MMPs). De fato, o aumento da atividade de MMPs medeia a progressão das doenças periodontais, mas as variações genéticas baseadas na população podem determinar a suscetibilidade à doença. O objetivo foi investigar a associação entre o polimorfismo MMP-1-1607 e periodontite em indivíduos iraquianos. População e método: O desenho deste estudo foi um caso-controle com indivíduos iraquianos, os quais foram divididos em dois grupos: grupo periodontite (casos) e indivíduos com periodonto saudável (controle). Para cada sujeito, os parâmetros clínicos periodontais e as características demográficas foram registrados, e o sangue venoso foi coletado para análise genética de MMP-1 por meio da técnica de PCR e sequenciamento de DNA. Resultados: A análise dos genótipos MMP-1-1607, pelo equilíbrio de Hardy-Weinberg, mostrou diferenças significativas na amostra total. O genótipo MMP-1-1607 mais predominante entre os controles foi 1G/2G, o qual foi significativamente diferente das coortes de periodontite. No geral, 13 SNP foram detectados no grupo periodontite versus 17 SNP no grupo controle. Além disso, o grupo periodontite mostrou uma associação negativa significativa entre a profundidade da bolsa de sondagem e MMP-1-1607. Conclusão: Os resultados sugerem que polimorfismos em MMP-1-1607 1G/2G podem desempenhar um papel protetor e diminuir a suscetibilidade à periodontite. (AU)


Subject(s)
Humans , Female , Adult , Middle Aged , Periodontitis , Polymorphism, Genetic , Matrix Metalloproteinase 1 , Polymorphism, Single Nucleotide , Genotype
4.
Article in English | WPRIM | ID: wpr-929013

ABSTRACT

Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by airway mucociliary clearance dysfunction. The estimated prevalence of PCD is 1꞉10 000 to 1꞉20 000. The main respiratory manifestations in children are cough, expectoration, chronic rhinitis, sinusitis, and chronic otitis media, while the most common symptoms in adults are chronic sinusitis, bronchiectasis, and infertility. About 50% of patients with certain PCD-related gene variants are combined with situs inversus, and the incidence of congenital heart disease is also high. The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs, leading to a series of heterogeneous clinical manifestations, which makes it difficult to identify and diagnose PCD. Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.


Subject(s)
Chronic Disease , Cilia/pathology , Humans , Kartagener Syndrome/genetics , Phenotype , Sinusitis
5.
Article in Chinese | WPRIM | ID: wpr-928751

ABSTRACT

OBJECTIVE@#To analyze the genotype characteristics of α- and β-thalassemia and the diagnostic value of hematological indexes in pregnant women in Xindu District of Chengdu.@*METHODS@#The blood routine parameters(MCV) <80 fl and (or) (MCH) <27 pg and hemoglobin electrophoresis were used to screen the pregnant women, PCR-reverse dot blot hybridization(PCR-RDB) technique was used to detect the common α- and β-thalassemia gene types in the primary screening positive population. The husbands of the diagnosed pregnant women were recalled for gene testing, and the highly suspected patients were checked by gene sequencing.@*RESULTS@#Among the 7 049 pregnant women, 1 740(24.68%) cases were positive for primary screening. 180 patients were diagnosed as thalassemia gene positive, among them, 94 cases (52.22%) of α-thalassemia were detected and six genotypes were found, in which --SEA /αα genotype was the highest (58 cases, 61.70%); 82 cases (45.56%) of β-thalassemia were detected and ten genotypes were found while CD41-42/N and CD17/N genotypes were the most common; there were 4 cases(2.22%) with α combined with β-thalassemia. Through clinical follow-up survey, there were 4 couples with the same type of thalassemia, one of them was induced labor after diagnosis of hemoglobin H disease. Receiver operating curve (ROC curve) was used to analyze the diagnostic value of hematological parameters in thalassemia positive pregnant women. The results showed that AUC(HBA2)<AUC(MCHC)<AUC(RDW-SD)<AUC(MCH)<AUC(MCV) (P<0.01).@*CONCLUSION@#The most common genotypes of α- and β-thalassemia in pregnant women in Xindu District of Chengdu were --SEA /αα, CD41-42/N, CD17/N. The blood routine indicators (HBA2、RDW-SD、MCHC、MCH、MCV) have high diagnostic value for screening of thalassemia.


Subject(s)
China/epidemiology , Female , Genetic Testing , Genotype , Humans , Mutation , Pregnancy , Pregnant Women , alpha-Thalassemia/genetics , beta-Thalassemia/genetics
6.
Article in Chinese | WPRIM | ID: wpr-928718

ABSTRACT

OBJECTIVE@#To explore the relationship between the level of soluble HLA-E (sHLA-E) molecules in plasma and gene polymorphism and leukemia in Shenzhen of China.@*METHODS@#Enzyme-linked immunosorbent assay was used to detect sHLA-E level in plasma of 103 leukemia patients and 113 healthy blood donors. PCR-SBT was used to identify the HLA-E genotype of 73 leukemia patients and 76 healthy blood donors.@*RESULTS@#The level of plasma sHLA-E of 103 leukemia patients was significantly higher than that of 113 healthy blood donors (P<0.001); And the level of plasma sHLA-E in 77 myeloid leukemia patients was also significantly higher (P<0.001). The percentage of patients with plasma sHLA-E concentration of 0-199 ng/ml in leukemia and myeloid leukemia patients was 37.86% and 32.47%, respectively, which was significantly lower than 53.98% of healthy donors, the difference was statistically significant (P<0.05, P<0.01); While, when the plasma sHLA-E concentration was more than 400 ng/ml, the percentage was 33.01% and 36.36%, respectively, which was significantly higher than 13.28% of healthy donors, the difference was also statistically significant (P=0.001, P<0.001). There was no significant difference in the level of plasma sHLA-E among different HLA-E genotypes (P>0.05), whether healthy blood donors or leukemia patients.@*CONCLUSION@#The level of plasma sHLA-E in patients with leukemia (especially myeloid leukemia) is significantly higher than that of healthy blood donors, but different HLA-E genotypes do not affect the level of plasma sHLA-E. A cut-off value for the concentration of plasma sHLA-E (recommended risk value >400 ng/ml) can be set to assess the risk of certain pre-leukemia patients.


Subject(s)
Genotype , Histocompatibility Antigens Class I/genetics , Humans , Leukemia/genetics , Polymorphism, Genetic
7.
Article in Chinese | WPRIM | ID: wpr-928699

ABSTRACT

OBJECTIVE@#To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province.@*METHODS@#Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya.@*RESULTS@#Among the 572 Han Population in Sanya, 271 cases of thalassemia gene abnormality were detected, among which 161 cases were founded to be carriers of α-thalassemia gene. A total of 9 genotypes were detected, in the following order of the detection rate was --SEA/αα,-α3.7/αα,-α4.2/αα,--SEA/-α3.7,--SEA/-α4.2,-α4.2/-α4.2,-α3.7/-α4.2,-α3.7/-α3.7,--SEA/--SEA. Among them, the deletion type (--SEA/αα) in southeast Asia was the most common, accounting for 66 cases. 99 cases of β-thalassemia were detected, there were 7 genotypes, all of which were heterozygous. The order of the detection rate was CD41-42/βN, IVS-II-654/βN, CD17/βN, CD71-72/βN, -28/βN, -29/βN, CD27-28/βN. Among them, CD41-42/βN was the most common, accounting for 51 cases. In addition, 11 cases of combined α and β thalassemia were detected. Five kinds of genotypes were checked out, the order of detection rate was -α3.7/αα composite CD41-42/βN, --SEA/αα composite IVS-II-654/βN, -α4.2/-α4.2 composite CD41-42/βN, -α4.2/αα composite -29/βN , --SEA/ -α4.2 composite CD41-42/βN.@*CONCLUSION@#Han Population in Sanya of Hainan Province is a high-risk population of thalassemia, the genotype characteristics are different from other areas with high incidence of thalassemia in China. The main type of α-thalassemia is the deficiency mutation of southeast Asia, while CD41-42 heterozygous mutation is the main type of β-thalassemia.


Subject(s)
China/epidemiology , Genotype , Heterozygote , Humans , Mutation , alpha-Thalassemia/genetics , beta-Thalassemia
8.
Article in Chinese | WPRIM | ID: wpr-928695

ABSTRACT

OBJECTIVE@#To investigate the hematological characteristics and genotype distribution of thalassemia among people at reproductive age in Chongqing.@*METHODS@#Hematology analysis and capillary electrophoresis were performed in 29 145 participants at reproductive age. The patients with positive results were confirmed by thalassemia genotyping. Genotype distribution and characteristics of mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) and hba2 levels in thalassemia patients were analyzed.@*RESULTS@#--SEA/αα (45.10%), -α3.7/αα (39.31%) and -α4.2/αα (8.46%) were the most common genotypes of α-thalassemia, while CD17 (HBB: c. 52A>T) (31.67%), CD41-42 (HBB: c. 126-129 del TTCT) (26.87%) and IVS-Ⅱ-654 (HBB: c. 316-197 C>T) (24.21%) were the most common genotypes of β-thalassemia in Chongqing. In α-thalassemia ααCS/αα showed the lowest hba2 value (2.18±0.23)%, while --SEA/αα showed the lowest MCV (71.9±8.5) fl and MCH (22.7±3.3) pg value. The patients in βE (HBB: c. 79G>A) group showed comparatively higher values of MCV and MCH and significantly lower HbA and hba2 values than the other genotypes. There was no significant difference in HbA, hba2, MCV, MCH levels of the patients between pregnant group and non-pregnant group.@*CONCLUSIONS@#In Chongqing, there are differences in hematological characteristics among patients with different thalassemia genotypes. There is no significant effect of pregnancy on HbA, hba2, MCV and MCH has been found.


Subject(s)
China , Erythrocyte Indices , Female , Genotype , Humans , Mutation , Pregnancy , alpha-Thalassemia/genetics , beta-Thalassemia
9.
Article in English | WPRIM | ID: wpr-928598

ABSTRACT

OBJECTIVES@#To study the molecular epidemiological characteristics of the virus in children with acute viral diarrhea in Changdu of Tibet, China.@*METHODS@#Fecal specimens were collected from 96 children with acute diarrhea who visited the People's Hospital of Changdu, Tibet, from November 2018 to November 2020 and were tested for adenovirus, norovirus, astrovirus, sapovirus, and rotavirus. Gene sequencing was performed for the genotypes of these viruses.@*RESULTS@#The overall positive rate of the five viruses was 39% (37/96), among which astrovirus had the highest positive rate of 17%, followed by norovirus (9%), rotavirus (8%), adenovirus (7%), and sapovirus (5%). There was no significant difference in the positive rate of the five viruses among different age groups (P>0.05). Only the positive rate of astrovirus was significantly different among the four seasons (P<0.05). For adenovirus, 6 children had F41 type and 1 had C2 type; for norovirus, 6 had GⅠ.3 type, 1 had GⅠ.7 type, 1 had GⅡ.3 type, and 2 had GⅡ.4 Sydney_2012 type; HAstrV-1 type was observed in all children with astrovirus infection; for sapovirus, 1 child each had sporadic GⅠ.2, GⅠ.6, and GⅡ.1 sapovirus and 2 children had unknown type; 6 children had rotavirus G9[P8].@*CONCLUSIONS@#Astrovirus and norovirus are important pathogens in children with acute diarrhea in Changdu, Tibet. The positive rate of adenovirus, norovirus, astrovirus, sapovirus, and rotavirus is not associated with age, and only the positive rate of astrovirus has obvious seasonality. F41 type is the dominant genotype of adenovirus; GⅠ.3 is the dominant genotype of norovirus; HAstrV-1 is the dominant genotype of astrovirus; sporadic GⅠ.2, GⅠ.6, and GⅡ.1 are the dominant genotypes of sapovirus; G9[P8] is the dominant genotype of rotavirus.


Subject(s)
Child , China , Diarrhea/epidemiology , Feces , Gastroenteritis , Humans , Tibet/epidemiology , Viruses/genetics
10.
Journal of Preventive Medicine ; (12): 507-510, 2022.
Article in Chinese | WPRIM | ID: wpr-923706

ABSTRACT

Objective@#To investigate the genotypes of enteroviruses causing hand, foot and mouth disease ( HFMD ) in Shaoxing City, so as to provide insights into HFMD control.@*Methods@#The anal and pharyngeal swab specimens were collected from HFMD cases under 14 years of age reported by sentinel hospitals of HFMD in Shaoxing City from 2018 to 2020. The enterovirus genotypes were determined by quantitative real-time PCR (qPCR) assay and sequenced by BLAST, and the constitution and temporal distribution of enterovirus genotypes were descriptively analyzed.@*Results@#A total of 1 267 anal and pharyngeal swab specimens were collected from children with HFMD, and 661 specimens were positive for enteroviruses, with a positive rate of 52.17%. Among the 661 enterovirus-positive specimens, 70 specimens were tested positive for EV71 ( 5.52% ), 208 specimens tested positive for CoxA16 ( 16.42% ), 239 specimens tested positive for CoxA6 ( 18.86% ); 23 specimens tested positive for CoxA10 (1.82%), and 121 specimens tested positive for other 10 genotypes, including CoxA2, CoxA4, and CoxA5. The prevalence rates of EV71 were 14.08%, 0.72% and 1.84% from 2018 to 2020, and the detection of EV71 peaked during the period between April and July, 2018. The prevalence rates of CoxA16 were 10.98%, 26.57% and 11.98 from 2018 to 2020, and the detection of CoxA16 peaked during the period between April and August, and between November and December, 2019. The prevalence rates of CoxA6 were 10.50%, 14.73% and 30.88% from 2018 to 2020, and the detection of CoxA6 peaked during the period between May and December, 2020.@*Conclusions@#EV71, CoxA16 and CoxA6 were predominant enterovirus genotypes causing HFMD in Shaoxing City from 2018 to 2020, and the detection of CoxA6 appeared a tendency towards a rise.

11.
Acta odontol. Colomb. (En linea) ; 12(1): 29-39, 2022. tab 1 Distribución en frecuencia y porcentaje de la Tipificación del VPH, tab 2 Distribución por frecuencia y porcentaje de los tipos virales según el riesgo en los pacientes estudiados, tab 3 Distribución en frecuencia y porcentaje de manifestaciones clínicas de infección por VPH, ilus, tab 4 Distribución de los sitios en cavidad bucal, más afectados por infección de VPH, en frecuencia y porcentaje
Article in Spanish | LILACS, COLNAL | ID: biblio-1353791

ABSTRACT

Objetivo: describir las características clínicas epidemiológicas en cavidad bucal de la infección por VPH y la asociación con su tipificación molecular. Métodos: se realizó un estudio analítico de corte transversal en 52 pacientes que acudieron a los servicios de estomatología en la Facultad de Odontología de la Universidad de Cartagena y al Hospital Alemán de Buenos Aires, a quienes se les abrió historia clínica y se les practicó prueba de PCR en tiempo real para la tipificación del VPH. Resultados: el análisis de los datos se efectuó a través de frecuencia y porcentaje. En cuanto a la parte inferencial, se usó la prueba chi cuadrado con un nivel de confianza P<0,05. De los 52 pacientes analizados, 67.3% eran mujeres con un predominio de edad entre los 50-59 años. El serotipo mayormente encontrado fue VPH 6, seguido del VPH 11 y otros tipos de VPH. La lesión elemental más preponderante fue la verrugosidad y la ubicación de predominio, la lengua. Conclusión: las infecciones por VPH se manifiestan frecuentemente en cavidad bucal con verrugosidades en lengua. Su estudio epidemiológico, incluyendo su tipificación, permitiría encontrar lesiones características para un diagnóstico, seguimiento y tratamiento oportuno.


Objective: Analyze the most common epidemiological clinical characteristics of HPV infection in the oral cavity and its molecular typing. Methods: An observational, analytical, cross-sectional study was carried out in 52 patients who attended the stomatology services of the Universidad de Cartagena and the Hospital Alemán de Buenos Aires; a complete clinical history was carried out, including stomatological examination, biopsy, pathological study and real-time PCR test for HPV typing. Results: The data analysis was carried out by means of frequency and percentage. Regarding the inferential part, the chi-square test was used with a confidence level of P <0.05. Of the 52 studied patients 67.3% were women; with a predominant age between 50-59 years. The most common serotype found was HPV 6, followed by HPV 11 and other types of HPV. The predominant lesion was the wart and the predominant location, the tongue. Conclusion: The HPV infections are frequently manifested in oral cavity with Verrugosities in language and its typing, would allow a timely diagnosis of pharynx cancer.


Subject(s)
Humans , Papillomavirus Infections , Alphapapillomavirus , Mouth , Polymerase Chain Reaction , Genotype
12.
Ann. afr. méd. (En ligne) ; 15(2): e4543-e4549, 2022. figures, tables
Article in English | AIM | ID: biblio-1366652

ABSTRACT

Context and objective. The steady increase in the number of chronic hemodialysis patients in sub-Saharan Africa (SSA) calls for improved management of those patients. The present study aimed to determine the frequency of hepatitis C virus (HCV) infection, the prevalent genotypes, and the risk factors associated with HCV in hemodialysis patients in Kinshasa (DR Congo). Methods. A cross-sectional study was conducted from February to June 2018 in all hemodialysis centers in Kinshasa. Blood samples were collected from 127 chronic hemodialysis patients and tested for the presence of antibodies against HCV. The HCV genotype was identified by real-time polymerase chain reaction (RT- PCR). Results. Twenty-two (17.3 %) patients were positive for anti-HCV antibodies, ranging from 0 % to 52.9 % in different centers. Genotype 4 was detected in 18/22 (81.8 %), followed by genotype 2 in 2/22 (9.1%), and both genotypes 2 and 4 in one patient (4.5%). One patient had an undetermined genotype (4.5 %). Having received at least 4 transfusions [7,21 (1,09- 10,61); p=0.040)], not being under EPO treatment [5,81(1,47-12,96); p=0.012)], being on hemodialysis for at least 14 months [3,63(1,60-5,05); p=0.035)]and being dialyzed in an overloaded center [2,06(0,83-5,86); p=0.073)] were associated with a greater risk of HCV infection. Conclusion. This high HCV prevalence (17.3 %) represents a substantial health burden in HD patients from Kinshasa, DR Congo. It is largely driven by the number of blood transfusions, the duration time in hemodialysis. Observations from the present study underscore the need of reducing the number of blood transfusions in people on dialysis through the administration of erythropoietin, given the unaffordable cost of HCV therapy for most individuals in DR Congo.


Contexte et Objectifs. Le nombre des patients hémodialisés en Afrique subsaharienne en constante augmentation ; justifiant de ce fait une meilleure prise en charge de ces patients. La présente étude détermine la prévalence de l'infection par le virus de l'hépatite C en en determinant les génotypes ainsi que les facteurs y associés dans ce groupe de patients. Méthodes. 127 patients hémodialisés chroniques ont subis des tests sérologiques à la recherche des anticorps anti-VHC dans plusieurs centres de Kinshasa de février à juin 2018. Le génotype viral a été déterminé par la RT-PCR. Résultats. La fréquence des anticorps anti-VHC a varié de 0 à 52,9 % dans ce groupe. Les génotypes le plus fréquents ont été le 4 (18/22) et le 2 (2/22) ; étant sumultanément rétrouvé chez un patient, et indéterminé chez un autre sujet. Avoir reçu au moins 4 transfusions [7,21 (1,09-10,61; p=0.040)], ne pas être sous EPO [5,81(1,47-12,96); p=0.012)], être en hémodialyse depuis au moins 14 mois [3,63(1,60- 5,05); p=0.035)] et être dialysé dans un centre surchargé [2,06 (0,83-5,86); p=0.073)] étaient associés à un risque plus élevé d'infection par le VHC. Conclusion. Ses principaux déterminants sont : le nombre des transfusions sanguines et la durée d'HD ; d'où la nécessité de réduire les transfusions sanguines chez les sujets dialysés par l'administration d'EPO, étant donné le coût prohibitif du traitement contre le VHC dans notre contexte


Subject(s)
Humans , Male , Female , Epidemiologic Factors , Hepacivirus , Genotype , Prevalence , Renal Dialysis
13.
Ciênc. rural (Online) ; 52(10): e20210403, 2022. tab, graf
Article in English | LILACS-Express | LILACS, VETINDEX | ID: biblio-1364724

ABSTRACT

ABSTRACT: The plants physiological processes such as transpiration and photosynthetic efficiency are directly related to leaf area, which is difficult to quantify in a nondestructive manner. To generate a model to estimate the total leaf area of plants of banana cv. Vitória, simple and multiple linear regressions utilizing the length and width of the third leaf, the product of length and width of the third leaf, and the total number of leaves of 'Vitória' plants, were tested. The data to develop the model were obtained from 'Vitória' banana plants from different edafoclimatic conditions and management. The best performance of the model was obtained using stepwise multiple regression with r2=0.93 and r2= 0.94. Validation of the model resulted in an r2 of 0.74.


RESUMO: Processos fisiológicos das plantas como transpiração e eficiência fotossintética estão diretamente relacionados à área foliar, a qual é difícil quantificar de forma não destrutiva. Para gerar um modelo para estimar a área foliar total de plantas da cv. Vitória, foram testadas regressões lineares simples e múltiplas utilizando comprimento e largura da terceira folha, o produto comprimento e largura da terceira folha e número total de folhas. Os dados para desenvolver o modelo foram obtidos de cultivos com diferentes condições edafoclimáticas e de manejo. O melhor modelo foi obtido por meio de regressão múltipla stepwise com r2 = 0,93 e r2 = 0,94. A validação do modelo resultou em r2 de 0,74.

14.
Ciênc. rural (Online) ; 52(2): e20201054, 2022. tab, graf
Article in English | LILACS, VETINDEX | ID: biblio-1286057

ABSTRACT

Understanding the genetic diversity and overcoming genotype-by-environment interaction issues is an essential step in breeding programs that aims to improve the performance of desirable traits. This study estimated genetic diversity and applied genotype + genotype-by-environment (GGE) biplot analyses in cotton genotypes. Twelve genotypes were evaluated for fiber yield, fiber length, fiber strength, and micronaire. Estimation of variance components and genetic parameters was made through restricted maximum likelihood and the prediction of genotypic values was made through best linear unbiased prediction. The modified Tocher and principal component analysis (PCA) methods, were used to quantify genetic diversity among genotypes. GGE biplot was performed to find the best genotypes regarding adaptability and stability. The Tocher technique and PCA allowed for the formation of clusters of similar genotypes based on a multivariate framework. The GGE biplot indicated that the genotypes IMACV 690 and IMA08 WS were highly adaptable and stable for the main traits in cotton. The cross between the genotype IMACV 690 and IMA08 WS is the most recommended to increase the performance of the main traits in cotton crops.


Compreender a diversidade genética e contornar os problemas causados pela interação genótipos por ambientes é uma etapa importante em programas de melhoramento. Este estudo teve como objetivo estimar a diversidade genética e aplicar a metodologia de biplot genótipo + genótipo por ambiente (GGE biplot) em doze genótipos de algodão avaliados quanto ao rendimento da fibra, comprimento da fibra, resistência da fibra e micronaire. A estimativa dos componentes de variância e dos parâmetros genéticos foi feita através do método da máxima verossimilhança restrita e a predição dos valores genotípicos por meio da melhor predição linear não enviesada. Os métodos de Tocher modificado e análise de componentes principais (PCA) foram utilizados para quantificar a diversidade genética entre os genótipos. O método GGE biplot foi conduzido para encontrar os melhores genótipos em relação à adaptabilidade e estabilidade. As técnicas de Tocher e PCA permitiram a formação de clusters de genótipos semelhantes com base em uma estrutura multivariada. O GGE biplot indicou que os genótipos IMACV 690 e IMA08 WS foram altamente adaptáveis e estáveis para as principais características do algodão. O cruzamento dentre os genótipos IMACV 690 e IMA08 WS é o mais recomendado para aumentar o desempenho das principais características na cultura do algodão.


Subject(s)
Gossypium/genetics , Cotton Fiber/analysis , Gene-Environment Interaction , Genotype , Plant Breeding/methods
15.
Vaccimonitor (La Habana, Print) ; 30(3)2021. tab, graf
Article in English | LILACS, CUMED | ID: biblio-1341782

ABSTRACT

Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii, that has the capacity to infect all warm-blooded animals worldwide. The purpose of this investigation was to determine the distribution of genotypes and alleles in miscarriages woman as a result of Toxoplasma gondii infection associated with interleukin-1β and interleukin-6 polymorphisms. A total of 125 miscarriage women suspected of toxoplasma infection and 50 healthy pregnant without previous miscarriage as control were enrolled in this study. The cases were screened for anti-toxoplasma IgM and IgG by ELISA test. Among the 125 miscarriage women, only 50 were positive to anti-Toxoplasma gondii IgG and IgM antibodies. The present study focused on assay the genotypes at IL-6 -174 G/C and IL-1β +3954 G>A to establish the associations between genetic polymorphisms and infection with Toxoplasma gondii. Results showed that the altered IL-1β GA, AA genotypes were high significant elevated in miscarriage women with toxoplasmosis (P=0.03), OR = 10 and 95 percent confidence intervals (1.32-81.48); (P=0.0007), OR = 0.07 and 95 percent confidence interval (0.01-0.32). The genotype GC at IL-6 (G/C) appears to be highly correlated with infection (P=0.01); OR = 3.18 and 95 percent confidence interval, (1.22- 8.30). In terms of allelic heterogeneity, C alleles were significantly more common in infected than uninfected cases for IL-6, while A allele is common in IL-1β single nucleotide polymorphisms (P =0.050). Furthermore, this study demonstrates that there is a strong and highly significant association between two forms of single nucleotide polymorphisms and the increased risk for toxoplasmosis. Genotypes of these polymorphism should be considered when evaluating genetic effects on toxoplasmosis incidence. However, to improve the prediction of this disease predisposition, a further study based on a larger cohort of patients is warranted(AU)


La toxoplasmosis es causada por la infección con el parásito protozoario Toxoplasma gondii, que tiene la capacidad de infectar a todos los animales de sangre caliente en todo el mundo. El propósito de esta investigación fue determinar la distribución de genotipos y alelos en mujeres con abortos espontáneos como resultado de la infección por Toxoplasma gondii asociada con polimorfismos de interleucina 1β e interleucina 6. Se inscribieron en este estudio un total de 125 mujeres con aborto espontáneo sospechosas de infección por toxoplasma y 50 embarazadas sanas, sin aborto espontáneo previo, como control. Los casos se examinaron para detectar IgM e IgG anti-toxoplasma mediante la prueba ELISA. Entre las 125 mujeres que sufrieron un aborto espontáneo, solo 50 fueron positivas a anticuerpos IgG e IgM anti-Toxoplasma gondii. El presente estudio se centró en analizar los genotipos de IL-6-174 G/C e IL-1β +3954 G>A para establecer las asociaciones entre polimorfismos genéticos e infección por Toxoplasma gondii. Los resultados mostraron que los genotipos alterados de IL-1β GA, AA fueron significativamente elevados en mujeres con aborto espontáneo con toxoplasmosis (P = 0,03), OR = 10 e intervalos de confianza del 95 por ciento (1,32-81,48); (P = 0,0007), OR = 0,07 e intervalo de confianza del 95 por ciento (0,01-0,32). El genotipo GC de IL-6 (G/C) parece estar altamente correlacionado con la infección (P = 0.01); OR = 3,18 e intervalo de confianza del 95%, (1,22- 8,30). En términos de heterogeneidad alélica, los alelos C fueron significativamente más comunes en los casos infectados que en los no infectados para la IL-6, mientras que el alelo A es común en los polimorfismos de nucleótido simple de IL-1β (P = 0.050). Además, este estudio demuestra que existe una asociación fuerte y altamente significativa entre dos formas de polimorfismos nucleótido simple y el mayor riesgo de toxoplasmosis. Se deben considerar los genotipos de estos polimorfismos al evaluar los efectos genéticos sobre la incidencia de la toxoplasmosis. Sin embargo, para mejorar la predicción de esta predisposición a la enfermedad, se justifica un estudio adicional basado en una cohorte más grande de pacientes(AU)


Subject(s)
Humans , Female , Pregnancy , Toxoplasmosis/epidemiology , Polymorphism, Single Nucleotide/genetics , Genotype
16.
Rev. peru. med. exp. salud publica ; 38(4): 577-586, oct.-dic. 2021. tab, graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1365926

ABSTRACT

RESUMEN Objetivo. Determinar la estructura genética de las cepas drogorresistentes de Mycobacterium tuberculosis que circularon en todo el Perú durante los años 2011-2015 a través de haplotipos obtenidos de un ensayo con sondas en línea. Materiales y métodos. Se analizaron 6589 muestras que ingresaron al Instituto Nacional de Salud para el diagnóstico rutinario mediante el ensayo GenoType® MTBDRplus v2, durante el periodo de estudio. Se crearon haplotipos resistentes mediante la concatenación de 21 sitios polimórficos de los genes evaluados por el ensayo con sondas en línea, y se realizó el análisis de asociación con fenotipos obtenidos por el método de proporciones agar 7H10. Resultados. Las mutaciones de mayores frecuencias fueron: rpoB S531L (55,4%) y rpoB D516V (18,5%) para la resistencia a rifampicina, y katG S315T (59,5%) e inhA c-15t (25,7%) para la resistencia a isoniacida. Se obtuvieron 13 haplotipos representativos (87,8% de muestras analizadas) de los cuales seis correspondieron al genotipo multidrogorresistente, cuatro al genotipo monorresistente a isoniacida y tres al genotipo monorresistente a rifampicina. Dieciocho departamentos, y la provincia del Callao, presentaron una alta diversidad haplotípica; cuatro presentaron moderada diversidad y dos presentaron baja diversidad. Conclusiones. Existe una alta diversidad haplotípica en la mayoría de los departamentos, además de una concentración de las cepas de Mycobacterium tuberculosis drogorresistentes en las ciudades de Lima y Callao. Asimismo, las cepas de Mycobacterium tuberculosis con perfil drogorresistente que circulan en el Perú contienen principalmente los marcadores genéticos de mayor prevalencia a nivel mundial asociados con la resistencia frente a rifampicina e isoniacida.


ABSTRACT Objective. To determine the genetic structure of drug-resistant strains of Mycobacterium tuberculosis that circulated throughout Peru during the years 2011-2015, by using haplotypes obtained from a line probe assay. Materials and methods. A total of 6589 samples that were admitted to the Instituto Nacional de Salud for routine diagnosis using the GenoType® MTBDRplus v2 assay were analyzed during the study period. Resistant haplotypes were created by concatenating 21 polymorphic sites of the evaluated genes using the line probe assay; and the association analysis was carried out with phenotypes obtained by the 7H10 agar ratio method. Results. The most frequent mutations were: rpoB S531L (55.4%) and rpoB D516V (18.5%) for rifampicin resistance, and katG S315T (59.5%) and inhA c-15t (25.7%) for isoniazid resistance. We obtained 13 representative haplotypes (87.8% of analyzed samples), 6 corresponded to the multidrug-resistant genotype, 4 to the isoniazid mono-resistant genotype and 3 to the rifampicin mono-resistant genotype. Eighteen regions and the province of Callao showed high haplotype diversity; four showed moderate diversity and two showed low diversity. Conclusions. Most regions showed high haplotype diversity; in addition, most drug-resistant strains of Mycobacterium tuberculosis were concentrated in the cities of Lima and Callao. Likewise, drug-resistant Mycobacterium tuberculosis strains circulating in Peru mainly contain the genetic markers with the highest prevalence worldwide, which are associated with resistance to rifampicin and isoniazid.

17.
Arq. neuropsiquiatr ; 79(12): 1109-1115, Dec. 2021. tab, graf
Article in English | LILACS | ID: biblio-1355702

ABSTRACT

ABSTRACT Background: The genetic predisposition to multiple sclerosis (MS) is associated with HLA alleles, especially HLA-DRB1*15:01. Objective: To identify associations between findings in magnetic resonance imaging (MRI) and genetic features in a Brazilian cohort of patients with MS. Methods: We retrospectively studied data from 95 consecutive patients with MS. Two independent observers who were blinded to the clinical data identified black holes and enhanced lesions on T1 MRI sequences, and counted and measured contrast-enhanced lesions on T2 and Flair (fluid attenuation inversion recovery) sequences. Cases were classified according to lesion size, number, and volume. The HLA-DRB1, HLA-DQB1, and HLA-DQA1 alleles, and the rs4774, rs3087456, rs6897932, rs731236, and rs1033182 single nucleotide polymorphisms were identified by polymerase chain reaction amplification with sequence-specific primers using the One Lambda Inc. Kit, Canoga Park, CA, USA. Results: Patients with the HLA-DQA1*04:01 allele had lesion load (adjusted for age, sex, and MS duration) above median compared with patients with other HLA-DQA1 alleles (p=0.02). There were no differences among all the other HLA alleles and single nucleotide polymorphisms and lesion load. Conclusions: The correlation of the HLA-DQA1*04:01 allele with a higher lesion load on T2/Flair MRI sequences suggests that the presence of this allele is associated with the risk of greater MS severity.


RESUMO Antecedentes: A predisposição genética para a esclerose múltipla (EM) está associada a alelos HLA, principalmente o HLA-DRB1*15:01. Objetivo: Identificar associações entre lesões na ressonância magnética e características genéticas em uma coorte brasileira de pacientes com EM. Métodos: Estudamos retrospectivamente os dados de 95 pacientes consecutivos com EM. Dois observadores independentes que desconheciam os dados clínicos identificaram "black holes" e lesões realçadas pelo contraste nas sequências de ressonância magnética T1 e contaram e mediram as lesões nas sequências T2 e FLAIR (fluid attenuated inversion recovery). Os casos foram classificados de acordo com tamanho, número e volume da lesão. Os alelos HLA-DRB1, HLA-DQB1 e HLA-DQA1 e os polimorfismos de nucleotídeo único rs4774, rs3087456, rs6897932, rs731236 e rs1033182 foram identificados por amplificação de reação em cadeia da polimerase com iniciadores específicos de sequência usando o kit One Lambda Inc., Canoga Park, CA, EUA. Resultados: Os pacientes com alelo HLA-DQA1*04:01 apresentaram carga de lesão (ajustada para idade, sexo e duração da EM) acima da mediana em comparação com outros pacientes com demais alelos HLA-DQA1 (p=0,02). Não houve diferenças entre todos os outros alelos HLA e polimorfismos de nucleotídeo único e carga lesional. Conclusões: A correlação do alelo HLA-DQA1*04:01 com maior carga de lesão nas sequências de RM em T2 sugere que a presença desse alelo pode estar associada ao risco de maior gravidade da EM.


Subject(s)
Humans , HLA-DQ alpha-Chains/genetics , Multiple Sclerosis/genetics , Multiple Sclerosis/diagnostic imaging , Magnetic Resonance Imaging , Retrospective Studies , Genes, MHC Class II , Genetic Predisposition to Disease , Alleles , HLA-DQ beta-Chains , HLA-DRB1 Chains/genetics , Gene Frequency
18.
rev. udca actual. divulg. cient ; 24(2): e1707, jul.-dic. 2021. tab
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1361224

ABSTRACT

RESUMEN Los métodos clásicos de mejoramiento han estrechado la base genética del arroz. La selección recurrente (SR) permite el mejoramiento de una población, mediante la pirámidación de alelos favorables de diversos donantes y de origen genético diverso. Ha sido usada en Colombia por CIAT/CIRAD, para el desarrollo y el mejoramiento del acervo genético del arroz Oryza sativa L., tipo Japonica Tropical de secano en sabanas ácidas. Se evaluaron en bloques completos al azar, con tres repeticiones, 50 líneas avanzadas junto con el testigo comercial Corpoica Llanura 11. Se observó diferencia significativa entre líneas de arroz para las variables dependientes rendimiento de grano, días a floración, vigor e incidencia de Pyricularia en hojas y cuello, así como manchado de grano. Las líneas 39 y 37, de la población PCT-11, presentaron los mayores rendimientos, con 6,471 y 6,192kg ha-1, respectivamente, diferentes significativamente del testigo y de nueve líneas de ciclo tardío de la población PCT-4, que presentaron rendimientos muy bajos. Especialmente, la línea 39, mostró menor incidencia del hongo Pyricularia en hojas, que el testigo comercial Corpoica Llanura 11. Los presentes resultados muestran la utilidad de la SR en arroz de sabanas, para generar líneas superiores en rendimiento, en resistencia a enfermedades, en adaptación a las sabanas ácidas y el potencial para contribuir a la diversificación de su base genética.


ABSTRACT The classical breeding methods have narrowed the genetic base of rice. The pedigree method with a limited number of elite and genetically related parents, can reduce variability in long term studies. The development of populations with a broad genetic base and the use of breeding methods that allow the continuous accumulation of favorable alleles could overcome these disadvantages. Recurrent selection (SR) allows the improvement of a population through the pyramidation of favorable alleles of diverse donors and of diverse genetic origin. It has been used in Colombia by CIAT/CIRAD for the development and improvement of the genetic stock of Oryza sativa L. rice, a tropical rain-fed Japonica type in acid savannas. They were evaluated in complete blocks at random with three repetitions, 50 advanced lines of this project, together with the commercial control Corpoica Llanura 11. There was a significant difference between rice lines for the dependent variables grain yield, days to flowering, vigor and incidence of Pyricularia in leaves and spotted of grain. Lines 39 and 37 of the PCT-11 population presented the highest yields, with 6.471 and 6.192kg ha-1, respectively, significantly different from the control and nine late cycle lines of the PCT-4 population, which presented very low yields. Especially line 39 showed a lower incidence of the Pyricularia fungus on leaves than the commercial control Corpoica Llanura 11. The present results and others obtained in Colombia and Brazil, show the utility of SR in savanna rice to generate superior lines in yield, resistance to diseases, adaptation to acid savannas and the potential to contribute to the diversification of the genetic base.

19.
Salud UNINORTE ; 37(2): 525-531, mayo-ago. 2021.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1377264

ABSTRACT

RESUMEN Introducción: El síndrome Schaaf Yang (SHFYNG) constituye un desorden multisistémico caracterizado por un grupo de signos y síntomas relacionados con alteraciones genéticas, congénitas y de expresión clínica multivariable. Fue descrito por primera vez por el Dr. Schaaf y la Dra. Yaping, profesores de Genética Molecular y Humana de la Universidad de Houston y Baylor, respectivamente, en 2013 (1). El síndrome SHFYNG tiene una herencia autosómica dominante con una mutación presente en el alelo paterno, ya que el gen MA-GEL2 tiene una impronta materna y solo se expresa el alelo paterno. A diferencia de otras patologías autosómicas dominantes clásicas, el síndrome SHFYNG puede saltar varias generaciones siempre que la mutación resida en el cromosoma materno. Presentación del caso. Preescolar femenina, con antecedente de estancia en UCIN por hipotonía neonatal y pobre succión, bronquitis y neumonía. Su fenotipo está caracterizado por facies hipotónicas, frente prominente, epicanto interno, pómulos prominentes, puente nasal bajo, nariz ancha, labio superior delgado, orejas aladas, cuello corto y obesidad central. Presenta retraso en el neurodesarrollo, lenguaje y psicomotor. Estudios genéticos: cariotipo 46,XX e hibridación genómica comparativa con patrón genómico normal, sexo femenino, en exoma trío se identifica una variante patogénica: c.1996dupC (p.Gln666Profs*47) en el gen MAGEL2 asociada con SHFYNG. Conclusión. Se informa el primer reporte de este síndrome a nivel nacional con una incidencia mundial muy baja, estimándose aproximadamente <1/1.000.000 de nacidos vivos, lo que permite ampliar el conocimiento y sospechar patologías de difícil diagnóstico como esta.


ABSTRACT Introduction: Schaaf Yang Syndrome (SHFYNG) is a multisystemic disorder characterized by a group of signs and symptoms related to genetic, congenital, and multivariate clinical alterations. It was first described by Dr. Schaaf and Dr. Yaping, professors of Molecular and Human Genetics at the University of Houston and Baylor, respectively, in 2013 (1). SHFYNG has an autosomal dominant inheritance with a mutation located in the paternal allele, since the MAGEL2 gene has a maternal imprint and only the paternal allele is expressed. Unlike other classic autosomal dominant pathologies, SHFYNG syndrome can skip several generations, as long as the mutation resides on the maternal chromosome. Presentation of the case: Female preschooler, with a history of stay in the Neonatal Intensive Care Unit, due to neonatal hypotonia and poor suction, bronchitis, and pneumonia. Her phenotype is distinguished by hypotonic facies, prominent forehead, internal epican-thus, prominent cheekbones, low nasal bridge, broad nose, thin upper lip, winged ears, short neck, and central obesity. She presents neurodevelopmental, language, and psychomotor delay. Genetic studies: 46,XX karyotype, comparative genomic hybridization: normal genomic pattern, female sex, trio exam a pathogenic variant c.1996dupC (p.Gln666Profs*47) in the MAGEL2 gene associated with SHFYNG syndrome. Conclusion: It is reported to be the first national report of this syndrome, with a very low worldwide incidence, estimating approximately <1 / 1,000,000 live births, which allows us to expand knowledge and suspect difficult-to-diagnose pathologies like this one.

20.
Int. j. cardiovasc. sci. (Impr.) ; 34(4): 411-419, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1286822

ABSTRACT

Abstract Background Sex-specific pathology of coronary artery disease (CAD) has not been recognized. Women with obstructive or nonobstructive CAD associated with traditional risk factors have similar events; no studies have explored both populations in association with genetic markers. Objective To evaluate the DD genotype in overweight menopausal women and its association with CAD and traditional risk factors. Method This cross-sectional study included 356 menopausal women who underwent coronary angiography as CAD assessment. The patients' DNA was extracted and polymorphisms were detected with a single polymerase chain reaction assay. Two groups were formed based on luminal lesions (normal [n = 134] or pathological [n = 222]) with a cutoff value > 30%, considering overweight and age. The chi-square test, Student's t-test, and multivariate logistic regression were performed as appropriate (p < 0.05) using the following variables: overweight, diabetes, hypertension, dyslipidemia, smoking status, sedentary lifestyle, and a family history of CAD. Results The mean age of the sample was 63 + 8 years, and the mean BMI was 28 + 5 kg/m2. The DD genotype was slightly more prevalent in the pathological group (30.2% vs. 21.6%, p = 0.079), but this significantly changed when BMI > 25 was considered (33% vs. 18%, p = 0.012). In multivariate analysis with two threshold levels (> 50 and > 60 years), diabetes was significantly associated with CAD in both models (p = 0.021 vs. 0.009) but the genotype was only associated with younger age (p = 0.034). Conclusion These data support an association between atherosclerosis and the renin-angiotensin system in overweight menopausal women that is dependent on the age at which the ischemic event occurs.


Subject(s)
Humans , Female , Coronary Artery Disease/etiology , Genetic Markers , Atherosclerosis/enzymology , Menopause , Cross-Sectional Studies , Retrospective Studies , Diabetes Mellitus , Overweight , Heart Disease Risk Factors , Genotype
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