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1.
Eur Arch Paediatr Dent ; 24(5): 585-590, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37501012

RESUMO

PURPOSE: To evaluate the reliability of YouTube™ videos on zirconia crowns in pediatric dentistry. METHODS: On January 4, 2022, a search was performed using the term "pediatric zirconia crown". The first 100 videos on the subject were included. Non-English videos, duplicates, and off-topic videos were excluded. For each video, an examiner recorded the number of views, likes, comments, channel followers, upload date, duration, and category rating. Two examiners assessed the reliability of the information presented in the videos using DISCERN, a brief questionnaire and scale score used to assess in a valid and reliable way the quality of information on treatment choices for health problems. Descriptive and inferential analyses were performed (p < 0.05). RESULTS: Of the initial 100 videos, 72 were excluded because of language, duplication, and subject matter. The 28 remaining videos had an average of 3.5 comments, 8,896.18 channel followers, 5,614.00 views, 19.14 likes, and a duration of 840.32 s. The average view rate was 7.54 per day ± 10,206.81. There was a statistically significant difference between the number of views and comments (p < 0.001), likes and comments (p < 0.001), and likes and views (p = 0.006). According to the DISCERN, none of the videos received the maximum grade to be considered very good. Two were considered good, nine fair, fourteen poor, and three very poor. CONCLUSION: Given that the majority of YouTube™ videos currently available on zirconia crowns in pediatric dentistry were deemed unreliable according to the DISCERN questionnaire, caution should be exercised when using the information presented.


Assuntos
Odontopediatria , Mídias Sociais , Humanos , Criança , Reprodutibilidade dos Testes , Gravação em Vídeo , Coroas
2.
Growth Horm IGF Res ; 62: 101443, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34971854

RESUMO

OBJECTIVE: To identify and characterize a novel deletion at the LHX4 gene locus in a proband with growth hormone deficiency (GHD). METHODS: Long range polymerase chain reaction (PCR) amplification was used to confirm the suspected deletion and to identify the rough locations of the end points. Sanger sequencing was carried out to identify the exact end points of the deletion. RESULTS: Suspected deletion was confirmed via long range PCR amplification. Sanger sequencing identified the end points of the deletion within three nucleotide repeat sequences ("CTT"). The total length of the deleted segment was 12 127 base pairs and it includes complete exon 5 and exon 6 of the LHX4 gene. Therefore the homeodomain motif coded by exons 4 and 5, might be affected. CONCLUSION: We have identified a novel deletion that spans exon 5 and exon 6 of the LHX4 gene that could have occurred via microhomology mediated non-recurrent rearrangement. The deletion characterized does not appear to have been reported before. To our knowledge this novel deletion is the first identified LHX4 variant from Sri Lanka and it explains the phenotype of the proband characterized by growth hormone deficiency, hypoplastic anterior pituitary and subsequent deficiency of thyroid stimulating hormone and adrenocorticotropic hormone (ACTH).


Assuntos
Nanismo Hipofisário , Hipopituitarismo , Nanismo Hipofisário/genética , Deleção de Genes , Hormônio do Crescimento/genética , Humanos , Hipopituitarismo/genética , Proteínas com Homeodomínio LIM/genética , Fatores de Transcrição/genética
3.
Public Health ; 195: 32-38, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-34044347

RESUMO

OBJECTIVES: Different screen time activities may be related to sleep, physical activity, and sedentary behavior. The objective was to examine the association between self-reported screen time activities and accelerometer-measured 24-h movement behaviors. STUDY DESIGN: This was a cross-sectional study. METHODS: Adolescents' (n = 718, 50.4% girls, 16 years) sleep duration, sedentary behavior, light-intensity physical activity (LPA), and moderate-to-vigorous physical activity (MVPA) were estimated with wrist-worn accelerometry. Time spent on screen time activities related to studying, working, watching videos, playing video games, and using social media was self-reported. Multilevel linear regressions were used to test the association between screen time with sleep, sedentary behavior, and physical activity. RESULTS: Boys and girls slept 6.4 and 6.7 h per night, spent 10.4 and 10.1 h/d in sedentary behavior, spent 4.0 and 4.4 h/d in LPA, and spent 34.7 and 29.2 min/d in MVPA, respectively. Studying was inversely related to LPA and MVPA. Working was inversely related to sleep and positively related to LPA. Watching videos was associated with lower LPA and MVPA. For boys, videogames were associated with increased sedentary behavior and lower LPA and MVPA. For girls, studying and/or using social media were associated with lower LPA and MVPA. CONCLUSIONS: Indicators of screen time were associated with different accelerometer-measured 24-h movement behaviors in this sample of Brazilian adolescents.


Assuntos
Tempo de Tela , Comportamento Sedentário , Acelerometria , Adolescente , Estudos Transversais , Exercício Físico , Feminino , Humanos , Masculino
4.
Arch Pediatr ; 27(5): 244-249, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32461034

RESUMO

BACKGROUND: Insulin therapy is essential for type 1 diabetes. While a reasonable glycemic control prevents complications, inadvertent intramuscular (IM) insulin injection results in hypoglycemia and fluctuations of blood glucose levels. OBJECTIVE: To assess the subcutaneous thickness (SCt) at the potential insulin injection sites, in order to determine the suitable needle length. METHODS: Diabetic and non-diabetic children (n=125; aged 2-14 years) attending a tertiary care hospital were examined, after excluding those who had skin abnormality at the injection site, were hospitalized for>3 days, or had any other chronic illnesses. Dermal thickness (Dt) and SCt at the potential insulin injection sites were measured with ultrasonography. RESULTS: The mean age of the patients was 8 years and 57% were boys; mean Dt was 2.1±0.4 mm, SCt was 7.45.6±3.7 mm, and maximum SCt was 29.8 mm in the anterior abdominal wall. SCt increased with age and by raising a skin fold (sf). There was no difference (P>0.05) in Dt between genders, and limbs showed thinner Dt values than the abdomen. SCt changed with the injection site: it was the lowest in the thigh and the highest in the abdomen. SCt was thicker in females, with or without sf (P<0.001). For all sites, IM risk was high for 15-mm needles: it was highest in the thighs (98%) and reduced to 86% with sf. IM risk was low for 5-mm needles: it was highest in the thigh (38%), and reduced to 12% with sf. Compared with girls (up to 42%), IM risk was higher for boys (up to 54%), even for 5-mm needles with a sf. CONCLUSION: Using a short needle is recommended for children, particularly for boys. Regardless of the needle length, the raised sf technique is associated with reduced IM risk.


Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Hipoglicemiantes/administração & dosagem , Insulina/administração & dosagem , Músculo Esquelético/anatomia & histologia , Agulhas , Pele/anatomia & histologia , Tela Subcutânea/anatomia & histologia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Hipoglicemia/induzido quimicamente , Hipoglicemia/prevenção & controle , Hipoglicemiantes/uso terapêutico , Injeções Intramusculares , Injeções Subcutâneas , Insulina/uso terapêutico , Masculino , Músculo Esquelético/diagnóstico por imagem , Pele/diagnóstico por imagem , Sri Lanka , Tela Subcutânea/diagnóstico por imagem , Ultrassonografia
5.
Arq. bras. med. vet. zootec. (Online) ; 71(3): 917-928, May-June 2019. ilus
Artigo em Inglês | VETINDEX, LILACS | ID: biblio-1011332

RESUMO

In veterinary medicine, the cell therapy is still unexplored and there are many unanswered questions that researchers tend to extrapolate to humans in an attempt to treat certain injuries. Investigating this subject in nonhuman primates turns out to be an unparalleled opportunity to better understand the dynamics of stem cells against some diseases. Thus, we aimed to compare the efficiency of bone marrow mononuclear cells (BMMCs) and mesenchymal stem cells (MSCs) from adipose tissue of Chlorocebus aethiops in induced bone injury. Ten animals were used, male adults subjected, to bone injury the iliac crests. The MSCs were isolated by and cultured. In an autologous manner, the BMMCs were infused in the right iliac crest, and MSCs from adipose tissue in the left iliac crest. After 4.8 months, the right iliac crests fully reconstructed, while left iliac crest continued to have obvious bone defects for up to 5.8 months after cell infusion. The best option for treatment of injuries with bone tissue loss in old world primates is to use autologous MSCs from adipose tissue, suggesting we can extrapolate the results to humans, since there is phylogenetic proximity between species.(AU)


Na medicina veterinária, a terapia celular ainda é inexplorada e há muitas perguntas não respondidas, o que leva os pesquisadores a uma tendência a estender a terapia para os seres humanos, na tentativa de tratar certas lesões. Investigar esse assunto em primatas não humanos revela-se uma oportunidade sem precedentes para compreender melhor a dinâmica das células-tronco contra algumas doenças. Assim, objetivou-se comparar a eficiência das células mononucleares de medula óssea (BMMCs) e das células-tronco mesenquimais (MSCs) do tecido adiposo de Chlorocebus aetiops na lesão óssea induzida. Foram utilizados 10 animais, adultos do sexo masculino, submetidos à lesão óssea nas cristas ilíacas. As MSCs foram isoladas e cultivadas; de forma autóloga, as BMMCs foram infundidas na crista ilíaca direita e as MSCs de tecido adiposo na crista ilíaca esquerda. Após 4,8 meses, a crista ilíaca direita foi totalmente reconstruída, enquanto a crista ilíaca esquerda continuou apresentando defeito ósseo evidente por até 5,8 meses após a infusão. A melhor opção para o tratamento de lesões com perda de tecido ósseo em primatas do Velho Mundo é a utilização de MSCs autólogas de tecido adiposo, sugerindo que se podem estender os resultados para seres humanos, uma vez que há proximidade filogenética entre as espécies.(AU)


Assuntos
Animais , Masculino , Células da Medula Óssea , Transplante de Células-Tronco/veterinária , Células-Tronco Mesenquimais , Terapia Baseada em Transplante de Células e Tecidos/veterinária , Chlorocebus aethiops , Modelos Animais , Ílio/lesões
6.
BMC Nephrol ; 20(1): 183, 2019 05 22.
Artigo em Inglês | MEDLINE | ID: mdl-31117988

RESUMO

BACKGROUND: Accurate prediction of reference ranges of renal lengths facilitates clinical decision making. Currently a single renal-length-reference chart is used for both kidneys, which is solely based on the age of the child without adjusting for anthropometrics. Objective of the study is to assess the length of morphologically-normal kidneys ultrasonically and to build models to predict the renal lengths of children presenting at the Radiology Department of Lady Ridgeway Hospital for Children. METHODS: A descriptive cross sectional study was done among 424 children with 233 males and 191 females at the study setting. Study population included children undergoing abdominal ultrasound scans for indications not related to renal disease. Children with a family history of renal diseases or with morphologically-abnormal kidneys were excluded. Bipolar-lengths of kidneys, gender and anthropometrics were documented. Having tested for assumptions, Wilcoxon-signed rank test, Mann-Whitney U test and multiple linear regression were used. RESULTS: The mean (SD) bipor-length of right and left kidneys were 6.83 (1.43) and 7.05 (1.36) respectively (p < 0.001). Age, height and weight were significantly correlated with the renal lengths (p < 0.05). Until 16 months, there was a significant difference between the renal lengths between males and females (P < 0.05). Yet the association with gender was not significant from 17 months and in overall. Until 16 months, the best linear-regression equation (p < 0.001) for the left kidney was; 3.827 +  0.019(length in centimeters) +  0.141(weight in kilograms) - 0.023(age in months) - 0.347(for male sex). For the right kidney, it was; 3.888 + 0.020(length or height) + 0.121(weight) - 0.037(age) - 0.372 (for male sex). The respective R squares were 59.2 and 53.5% with VIF (Variance-Inflation-Factor) ranging from 1.06 to 2.08. From 17 months, best equation for left kidney (p < 0.001) was; 5.651+ 0.022(age) + 0.01(BMI). For right kidney it was; 5.336 + 0.022(age) + 0.012(BMI). The R squares were 62.5 and 66.1% with VIF being 1. CONCLUSIONS: The established models explain more variability for children above 17 months. Both renal lengths are affected significant by the body's' anthropometric parameters. For each kidney, separate normograms of renal lengths which are local-context-specific must be prepared. Further research must be promoted.


Assuntos
Rim/anatomia & histologia , Rim/diagnóstico por imagem , Atenção Terciária à Saúde/tendências , Antropometria/métodos , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Sri Lanka/epidemiologia , Atenção Terciária à Saúde/métodos , Ultrassonografia/métodos , Ultrassonografia/tendências
8.
Genet Mol Res ; 16(3)2017 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-28973724

RESUMO

The coronary arteriosclerotic disease is the most common cardiovascular disease. Atherosclerosis affects large- and medium-sized arteries leading to severe thrombosis or artery stenosis that could evolve to myocardial infarction, ischemic stroke, ischemic injury of kidneys and intestines, and several other life-threatening clinical manifestations. Nitric oxide has been shown to be a promising therapeutic agent against cardiovascular diseases. The eNOS gene assumes several important functions, including regulation of vascular tone and regional blood flow, the suppression of vascular smooth muscle cell proliferation, and modulation of leukocyte-endothelium interactions. The T786C polymorphism is an important point mutation, where thymine is changed to cytosine. T786C significantly reduces the activity of the eNOS promoter gene. Two hundred and ninety-seven peripheral blood samples were collected from patients with the previous diagnosis of atherosclerotic disease based on clinical examination and confirmed by imaging methods. Results were compared using the chi-square test and the G-test. In the present study, the TC genotype was more frequent in both case and control groups with no statistically significant difference. Comparing the relation TC/TT and CC genotypes in the case and control groups, there was no statistically significant difference. No significant difference was found when genotypes were analyzed regarding gender and smoking. Our results suggest a strong tendency of the T allele, in single or double dose, to be associated with atherosclerosis that was not confirmed by the scientific data.


Assuntos
Doença da Artéria Coronariana/genética , Mutação de Sentido Incorreto , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo Genético , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino
9.
Genet Mol Res ; 16(3)2017 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-28829900

RESUMO

Atherosclerosis is a multifactorial pathological disease that alters the morphology and function of arterial walls. The atheroma growth leads to vessel hardening and lumen narrowing, limiting the blood flow. The atheroma plaque can eventually break, expose highly thrombogenic material and lead to platelet activation and subsequent formation of a thrombus that may block blood flow in loco, or even leading to obstruction of other vessels with a smaller diameter. This process is one of the main determinants of the clinical manifestations of atherosclerosis, such as coronary artery disease, ischemic stroke, and peripheral arterial disease. Although the inflammatory theory about atherosclerosis is the most renowned one, observations point to common biological characteristics between cancer and atherosclerosis suggesting a possible association between p53 and atherosclerotic diseases. We collected peripheral blood samples from 200 individuals with clinical manifestations of atherosclerotic disease and 100 individuals without manisfestation of the disease to form the control group. DNA was subjected to molecular analysis (PCR) to identify the polymorphism of the p53 gene. We have not found any relationship between the polymorphism of the p53 gene and atherosclerosis in the population studied (P = 0.36). There was no relationship between atherosclerosis, polymorphism of p53 and the variables accounted: smoking habit (P = 0.72, 0.51 and 0.62 for smokers, non-smokers and former smokers respectively), alcohol consumption (P = 0.17 for individuals with drinking habits and 0.38 for those who do not consume alcohol beverage), systemic arterial hypertension (P = 0.60), diabetes mellitus (P = 0.34), and dyslipidemia (P = 0.89). Our population has a high rate of miscegenation and heterozygotes, and according to studies the arginine variant is more related to plaque formation because it induces apoptosis more frequently when compared to the proline variant. According to our results, there is no association between the polymorphism of the p53 gene, atherosclerosis and its risk factors in the population studied.


Assuntos
Aterosclerose/genética , Polimorfismo de Nucleotídeo Único , Proteína Supressora de Tumor p53/genética , Consumo de Bebidas Alcoólicas/epidemiologia , Aterosclerose/epidemiologia , Estudos de Casos e Controles , Diabetes Mellitus/epidemiologia , Humanos , Fumar/epidemiologia
10.
Genet Mol Res ; 16(3)2017 Jul 06.
Artigo em Inglês | MEDLINE | ID: mdl-28692121

RESUMO

Atherosclerosis is a chronic inflammatory disease formed by the accumulation of lipids in the innermost layer and large-caliber artery (tunica intima). This accumulation, along with platelet factors, stimulates the proliferation of muscle cells in this region. Over than 400 genes may be related to the pathology since they regulate endothelial function, coagulation, inflammation, metabolism of amino acids, lipids, and carbohydrates. Glutathione S-transferases (GST) are enzymes that catalyze the polymorphic detoxification of metabolites produced by oxidative stress within the cells, which is induced by reactive oxygen species. GSTs are one of the defense mechanisms against oxidative stress damage. Due to genetic, cultural, and environmental factors, the rate of atherosclerosis is higher; however, an early diagnosis is crucial for the prevention and treatment of several complications related to the disease. The present study aimed to analyze the frequency of GSTT1 genotypes regarding the presence or absence of the polymorphism in patients with clinical manifestation of atherosclerosis. We collected 200 samples of peripheral blood of patients with the previous diagnosis of atherosclerosis based on clinical examination and imaging, and 100 samples of peripheral blood to compose the control group of patients without clinical manifestation of atherosclerosis. The polymorphism was assessed by PCR and analyzed on the agarose gel stained with 2.0% ethidium bromide. The frequency of the GSTT1 gene polymorphism was compared using the chi-square test (P < 0.05) and the G-test. In the case group, we detected 85.5% of patients with the GSTT1 genotype present and 14.5% of patients with the null genotype. A significant difference was observed between groups (case vs control) for the presence of the GSTT1 polymorphism. According to the analysis of the variable alcohol consumption, we found that in the case group the presence of the GSTT1 gene was higher in individuals who reported not drinking alcohol. In this study, the presence of the GSTT1 gene polymorphism in male patients with atherosclerosis was 1.5 times higher when compared to female patients. Regarding the variable time of smoking, we found that this genotype was more frequent in smokers for both case and control groups.


Assuntos
Aterosclerose/genética , Glutationa Transferase/genética , Polimorfismo Genético , Aterosclerose/patologia , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
12.
Genet Mol Res ; 16(2)2017 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-28481400

RESUMO

Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous plaque and its clinical implications. Risk factors such as hypertension, diabetes mellitus, dyslipidemia, and smoking are widely known. Currently, genotyping, which is not directly related to these factors, is not accepted to estimate the risk of cardiovascular diseases, but strong evidence indicates several polymorphic genes as factors of risk and progression leading to complications of the disease. Among the genes involved, eNOS (endothelial nitric oxide synthase gene), which is responsible for the production of endothelial nitric oxide (an important arterial vasodilator), when presented in polymorphic variation can determine production, malfunction, and predisposition to atherosclerosis. In the present study, we analyzed the G894T polymorphism of the eNOS gene in groups of individuals diagnosed with atherosclerosis and in a control group. We collected 200 blood samples from patients previously diagnosed with atherosclerosis and 100 samples formed the control group. The genotyping analysis for polymorphism of the eNOS gene was determined by PCR. We considered variables such as gender, smoking, smoking history, and alcohol consumption; statistical differences were found in the distribution of case and control groups (P = 0.0378) and in non-smoking patients (P = 0.0263). In the other associations, no statistically significant difference was found. In the population studied, the frequency of the heterozygous genotype (GT) was much higher than in the other populations (GG and TT) in both groups (case and control). The GG genotype showed greater susceptibility to atherosclerosis. Association of the GG genotype in non-smokers also showed greater susceptibility. Gender, alcohol consumption, smoking, and smoking history did not influence atherosclerosis.


Assuntos
Aterosclerose/genética , Óxido Nítrico Sintase Tipo III/genética , Polimorfismo de Nucleotídeo Único , Estudos de Casos e Controles , Feminino , Genótipo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto
13.
Genet Mol Res ; 16(1)2017 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-28362975

RESUMO

Atherosclerosis is characterized by lesions, called atheroma or atheromatous plaques, in the inner layer of blood vessels, which block the vascular lumen and weaken the underlying tunica media. Several modifiable and non-modifiable risk factors for the development of atherosclerosis exist. The modifiable risk factors include hypertension, smoking, obesity, high LDL and low HDL cholesterol levels, sedentary lifestyle, and stress; the non-modifiable factors include diabetes mellitus, family history of hypertension and heart disease, thrombophilia, sex, age, and genetic factors. The association of polymorphisms in GST with coronary artery disease has been studied since the polymorphisms can affect enzyme activity and contribute to the onset of atherosclerosis. We analyzed polymorphisms in GSTM1 in individuals diagnosed with atherosclerosis as well as in healthy individuals (control group). The frequency of the GSTM1 present genotype in the atherosclerosis group was 1.2 times higher than that observed in the control group. We found no sex- or alcohol-consumption-dependent differences between the occurrences of the present and null genotypes. However, the GSTM1 present genotype occurred in 52.6% individuals with atherosclerosis who reported smoking 20 or more cigarettes per day and in 60% individuals who smoked 10 to 20 cigarettes per day (P = 0.0035). In addition, the GSTM1 present genotype was more frequent in individuals who reported being former smokers - 45.5% in individuals with atherosclerosis who smoked for more than 20 years and 50% each for individuals in the control group who smoked for less than 10 years or for 10 to 20 years, respectively (P = 0.0240).


Assuntos
Aterosclerose/genética , Aterosclerose/patologia , Glutationa Transferase/genética , Polimorfismo Genético , Fumar/patologia , Aterosclerose/epidemiologia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Fumar/epidemiologia
14.
Genet Mol Res ; 15(4)2016 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-27819720

RESUMO

Many environmental agents affect the development of male germ cells at different stages. Apoptosis is common during normal spermatogenesis; it plays an important role in controlling the number of germ cells and the disposal of defective stem cells to produce functional sperm. The presence of p53 in primary spermatocytes suggests that it plays a role in the prophase of meiosis. p53 is expressed in the testis in both spermatocytes and spermatogonia. This suggests that the p53 gene (TP53) is important for apoptosis regulation during spermatogenesis, and may be associated with male infertility. The main causes of male infertility are genetic, physical, and pathological abnormalities, intense and prolonged exercise, aging, drug use, and long periods of sexual abstinence. Approximately 20% of male infertility is idiopathic. The Trp53 gene is involved in meiosis in male rats and mice suggesting that the p53 plays a critical role in spermatogenesis. We investigated the association between the TP53 polymorphism in codon 72 and idiopathic male infertility in 208 semen samples: 106 showed abnormal semen analysis results and were from infertile men, and 102 were from fertile individuals (the control group). Changes in Trp53 expression are associated with the main phase regulating meiotic progression with a peak in the pachytene stage, and Trp53-deficient mice exhibit degenerative syndrome (giant cells). The genotypic and allelic frequencies were not significantly different among the groups in this study; the results suggest that the TP53 polymorphism in codon 72 is not associated with the pathogenesis of idiopathic male infertility or failure of spermatogenesis.


Assuntos
Códon/genética , Infertilidade Masculina/genética , Polimorfismo Genético , Proteína Supressora de Tumor p53/genética , Eletroforese em Gel de Ágar , Frequência do Gene/genética , Humanos , Masculino , Reação em Cadeia da Polimerase
15.
Genet Mol Res ; 15(3)2016 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-27706600

RESUMO

The aim of this study was to determine the prevalence of polymorphisms in the glutathione S-transferase genes GSTM1 and GSTT1 in patients with lens opacity (cataract). Peripheral blood samples were obtained from male and female patients (N = 23) with cataract. The GSTM1 and GSTT1 polymorphic regions were amplified by polymerase chain reaction, and the amplification products were electrophoresed on a 2% agarose gel. The obtained bands were by staining with ethidium bromide. The results were compared by a chi-square test using the BioEstat software (v.5.0). The frequencies of the GSTM1- and GSTT1-null genotypes were higher than those of the GSTM1- and GSTT1-present genotypes. The frequency of GSTT1-null genotypes was approximately 1.7 times higher than that of GSTM1, which was a statistically significant difference (P = 0.0019). Although a consensus remains to be reached on the correlation between genetic polymorphisms in GSTs and cataract susceptibility, the observations from most scientific studies are similar to those reported in this study. Thus, we conclude that the absence of these genes, particularly GSTT1, is correlated with the development of lens opacity.


Assuntos
Catarata/diagnóstico , Catarata/genética , Predisposição Genética para Doença , Glutationa Transferase/genética , Polimorfismo Genético , Adulto , Catarata/patologia , Feminino , Expressão Gênica , Frequência do Gene , Glutationa Transferase/deficiência , Humanos , Cristalino/metabolismo , Cristalino/patologia , Masculino , Pessoa de Meia-Idade
16.
Genet Mol Res ; 15(3)2016 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-27706624

RESUMO

Endometriosis is a disease that affects 10 to 15% of the women of reproductive age. It is characterized by the presence of endometrial-like tissues outside of the uterus. Some definitions claim that the functional ectopic tissue is sensitive to the action of hormones. Severity of endometriosis is defined according to a system proposed by the American Society for Reproductive Medicine, which is based on laparoscopic findings. A large number of genetic polymorphisms has been reported for CYP1A1, the gene that is responsible for enzymes involved in stage I detoxification of xenobiotics; this gene is located at 15q22-24, and encodes an isoenzyme that catalyzes the oxidation of polycyclic aromatic hydrocarbons present in phenolic compounds and epoxides. The aim of this study was to analyze the frequency of the MspI polymorphism and its relation to endometriosis. We obtained peripheral blood samples from 52 women with endometriosis (confirmed by laparoscopy) as well as 42 women without endometriosis (control group). In the case group, the women were between 25 and 35 years of age; the age range was between 25 and 57 years old in the control group. Molecular analysis was performed by polymerase chain reaction. We found a significant association (P = 0.039) between the polymorphic allele m1 and endometriosis (32.70%). In conclusion, this study showed that the m1 polymorphism is associated with endometriosis, and that W1/m1 and m1/m1 polymorphisms are more frequently observed in patients with infertility and severe endometriosis.


Assuntos
Citocromo P-450 CYP1A1/genética , Desoxirribonuclease HpaII/química , Endometriose/genética , Infertilidade Feminina/genética , Polimorfismo de Fragmento de Restrição , Adulto , Alelos , Estudos de Casos e Controles , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/patologia , Feminino , Expressão Gênica , Frequência do Gene , Genótipo , Humanos , Infertilidade Feminina/complicações , Infertilidade Feminina/diagnóstico , Infertilidade Feminina/patologia , Leucócitos Mononucleares/metabolismo , Leucócitos Mononucleares/patologia , Pessoa de Meia-Idade , Índice de Gravidade de Doença
17.
Genet Mol Res ; 15(2)2016 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-27323100

RESUMO

In healthy women, intra- and extracellular controls prevent the attachment and proliferation of ectopic endometrial cells. During endometriosis, abnormalities in these control mechanisms permit the survival of endometrial cells, their subsequent attachment to the peritoneal cavity, and disease progression. These abnormal cells cause invasion of tissues and induce an inflammatory response. Several genetic, immunological, and environmental factors contribute to this complex process. In this study we examined 6 polymorphisms for 6 different genes (p53; estrogen receptor ß; progesterone receptor; GSTM1; GSTT1; CYP1A1). We obtained polymorphic genotype frequencies of all genes for 50 patients and analyzed them using the Fisher exact test or G test. Initially, we analyzed the genes in groups of 2, followed by 3. We found a significant association between polymorphisms in 6 pairs of genes (p53-ERßshowed 5.9-times higher frequency in the experimental group, p53-GSTM1 showed 2.39 times higher, 65.5% patients showed p53-CYP1A1 polymorphism, ERß-PROGINS showed 3.0-times higher frequency, while 31.25% patients showed GSTM1- PROGINS and GSTT1-CYP1A1 polymorphism). Positive results were found in 15 situations when genes were analyzed in groups of 3; the most significant result corresponded to polymorphisms of p53, ERßand GSTM1 seen in 20%; PROGINS, ERßand GSTM1 in 18%; and p53, ERßand PROGINS in 12% patients. The results indicate that the presence of polymorphisms in more than one endometriosis-related gene is associated with onset of disease and progression. Future studies should focus on these genes to understand their inter-relationships and explore the possibility of developing new diagnostic techniques based on molecular markers.


Assuntos
Citocromo P-450 CYP1A1/genética , Endometriose/genética , Receptor beta de Estrogênio/genética , Glutationa Transferase/genética , Receptores de Progesterona/genética , Proteína Supressora de Tumor p53/genética , Adulto , Brasil , Estudos de Casos e Controles , Endometriose/patologia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Genótipo , Humanos , Pessoa de Meia-Idade
18.
Ceylon Med J ; 61(1): 18-21, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27031974

RESUMO

INTRODUCTION: Growth hormone releasing hormone receptor (GHRH-R) codon 72 mutation is recognised as a common genetic cause of growth hormone deficiency (GHD) in the Indian subcontinent resulting in a characteristic lean phenotype. Genetic studies have not been previously carried out in Sri Lankans with GHD. METHODS: Patients with GHD presenting to a tertiary care referral centre were studied for GHRH-R codon 72 mutation by PCR amplification and sequencing. The phenotype of the cohort was described as the BMI SDS (Body mass index standard deviation score) based on the anthropometric data at the time of diagnosis. RESULTS: Among 91 patients from 88 families studied, eight (6 boys) carried the codon 72 mutation. The presence of this mutation was low among the Sinhalese ethnicity (3 out of 68) than among Tamil and Moor ethnicities. BMI SDS of <-2 was seen in 71% of mutation positive and 45.8% of mutation negative patients. CONCLUSIONS: Prevalence of GHRH-R codon 72 mutation in this group of GH deficient patients was 8.8%. The lean phenotype observed in 71% of the mutation positive patients was not a significant association when compared to a similar phenotype in 45.8% of the mutation negative patients.


Assuntos
Índice de Massa Corporal , Hormônio do Crescimento/deficiência , Receptores de Neuropeptídeos/genética , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Magreza/genética , Adolescente , Criança , Pré-Escolar , Códon , Estudos de Coortes , Feminino , Humanos , Masculino , Mutação , Fenótipo , Sri Lanka , Adulto Jovem
19.
Scand J Med Sci Sports ; 26(2): 206-13, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25648423

RESUMO

This study aimed to estimate the prevalence of the main perceived barriers to leisure-time physical activity (LTPA) and their associations with the frequency of LTPA in a representative sample of industrial workers from Brazil (n = 47,477), according to their income strata (low income: ≤$US280, middle income: $US281-$US1400, and high income: ≥$US1401). Data were collected between 2006 and 2008 via questionnaires about the main perceived barrier to LTPA and the frequency of LTPA. Multinomial logistic regression was performed to evaluate differences among groups. There was a lower prevalence of regular practice of LTPA in the low- (15.8%) and middle-income strata (18.2%) than among the individuals of the high-income stratum (27.6%). A large proportion of workers who regularly participated in LTPA reported no barriers (low: 43.1%; middle: 46.8%; high: 51.6%). Additional obligations and fatigue were the two most common perceived barriers in all family income strata among participants who engaged in different frequencies of LTPA. The odds for all perceived barriers showed a positive trend related to frequency of LTPA (from regular to no LTPA), with higher values according to income. In summary, the ordering of the main perceived barriers to LTPA differed according to workers' income stratum and frequency of engaging in LTPA.


Assuntos
Renda , Atividades de Lazer/economia , Atividade Motora , Adulto , Brasil , Estudos Transversais , Fadiga , Feminino , Humanos , Atividades de Lazer/psicologia , Masculino , Pessoa de Meia-Idade , Motivação
20.
Exp Mol Pathol ; 99(3): 702-6, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26546836

RESUMO

BACKGROUND: Human papillomavirus (HPV) is a highly prevalent sexually transmitted virus causing cytological alterations that precede cervical cancer. Approximately 130 genotypes have been sequenced. Low-grade squamous intraepithelial lesions (LSIL) are the most frequent cytological alteration and have an uncertain behavior. OBJECTIVES: To analyze the frequency of HPV types in LSIL and their association with the regression, persistence or progression of these lesions. METHODS: A cohort study of forty patients with LSIL cytology was conducted from December 2007 to March 2011. The follow-up lasted two years and included cytology and colposcopy. HPV detection was performed using PCR, and genotyping was performed using PCR-specific and RFLP techniques. RESULTS: DNA-HPV was detected in 87% (35/40) of the cases, with oncogenic HPV accounting for 76%; type 16 in 32% (11/35) and type 18 in 20%. LSIL regression, persistence and progression rates at the end of the study were 60%, 23% and 17%, respectively. There was 50% regression in lesions in the high oncogenic risk group (types 16 and 18). CONCLUSION: HPV 16 was the most frequent genotype found in LSIL. The persistence and progression of the LSIL were related to the persistence of oncogenic HPV. The longer the follow-up time, the lower the LSIL persistence rate and the higher its regression rate; the progression rate remained stable. In addition to the presence of oncogenic HPV, other factors are necessary for the progression of LSIL.


Assuntos
Infecções por Papillomavirus/virologia , Lesões Intraepiteliais Escamosas Cervicais/patologia , Lesões Intraepiteliais Escamosas Cervicais/virologia , Progressão da Doença , Feminino , Genótipo , Humanos , Papillomaviridae/genética , Infecções por Papillomavirus/complicações , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição
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