Association between screen time and accelerometer-measured 24-h movement behaviors in a sample of Brazilian adolescents.

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.

Ultrasonographic length of morphologically-normal kidneys in children presented to a premier tertiary healthcare setting of Sri Lanka.

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.

Analysis of p53 gene polymorphism (codon 72) in symptomatic patients with atherosclerosis.

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.

GSTM1 polymorphism in patients with clinical manifestations of atherosclerosis.

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).

Atherosclerosis: analysis of the eNOS (T786C) gene polymorphism.

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.

Polymorphism of the gene eNOS G894T (Glu298Asp) in symptomatic patients with aterosclerosis.

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.

Molecular analysis of the GSTT1 gene polymorphism in patients with clinical manifestation of atherosclerosis.

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.

Barriers associated with frequency of leisure-time physical activity among Brazilian adults of different income strata.

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.

Genetic polymorphisms in patients with endometriosis: an analytical study in Goiânia (Central West of Brazil).

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.

Male idiopathic infertility and the TP53 polymorphism in codon 72.

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.

Association of CYP1A1 (cytochrome P450) MspI polymorphism in women with endometriosis.

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.

Analysis of the prevalence of polymorphisms in the glutathione S transferase gene (GST) in cataract patients from Goiânia.

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.

Growth hormone releasing hormone receptor codon 72 mutation in a cohort of Sri Lankan patients with growth hormone deficiency.

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.

The association of HPV genotype with the regression, persistence or progression of low-grade squamous intraepithelial lesions.

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.

Polymorphisms of GSTM1, GSTT1, and p53 in Goiânia, Goiás.

Genetic polymorphisms are defined as changes within the DNA sequences of genes that have frequencies in the population higher than 1%. The glutathione S-transferases play an important role in the cellular detoxification systems involved in oxidative stress that can lead to accumulation of reactive oxygen species. Epidemiological studies have suggested that individuals with homozygous deletion of glutathione S-transferase mu 1 (GSTM1) and glutathione S-transferase theta 1 (GSTT1) are at higher risk of developing several types of neoplasias. The p53 protein is highly expressed in tumors and transformed cells, and the p53 is a classical tumor suppressor gene involved in regulating cell growth and development. In this study, we investigated the prevalence of polymorphisms in the p53, GSTM1, and GSTT1 genes in a population from Goiânia. We evaluated the polymorphisms of these genes in peripheral blood samples. The null or present polymorphism of GSTM1 and GSTT1 genes and Arg/Pro of the p53 gene were analyzed. Our results revealed a higher frequency of the GSTM1-null polymorphism (72.4%) than the GSTM1-present genotype (27.6%). For GSTT1, we observed higher frequency for the null genotype (65.5%) compared to the present genotype (34.5%). Analysis of p53 gene polymorphisms showed a higher frequency for the genotype Arg/Pro (66%) and a lower frequency for the Arg/Arg (23%) and Pro/Pro (11%) genotypes. It is essential to understand polymorphism frequencies in different populations and to evaluate the role of genetic polymorphisms and their effects on health.

Analysis of the GSTM1-null polymorphism in patients with pterygium from Goiânia, Goiás Brazil.

The first reports about pterygium date back to Hippocrates, and this disease still threatens vision health around the world. Pterygium is a formation of fibrous tissue consisting of highly vascularized epithelial and subepithelial tissue that grows excessively and with an abnormal shape on the cornea. Many physical and biological factors are associated with the pathogenesis of pterygium, including heat, dust, and other particles in the atmosphere, and immunological mechanisms, mechanisms involving extracellular matrix reorganization, growth factors, cytokines, apoptosis, and angiogenesis. The aim of this study was to further investigate the association between polymorphisms in GSTM1 and the formation of pterygium. We collected peripheral blood samples from 90 patients diagnosed with pterygium and from 23 subjects with-out the disease in order to perform molecular analysis of the GSTM1 gene. Subjects with one or two copies of the GSTM1 allele had a normal genotype while those without any copies of the allele had a null geno-type. The chi-square test or the Fisher exact test was performed in order to investigate possible associations between the molecular analysis and the risk of pterygium. A significant difference between the frequency of the GSTM1-null genotype in patient and control groups was identified. However, sub-group analysis found that the GSTM1-null genotype was statistically significant in men, but not in women, and in Caucasians, but not in Brown or Black groups. Furthermore, the GSTM1-null geno-type was not related to any of the risk factors analyzed: cases in family, occupational exposure, smoking, hypertension, and diabetes.

Pterygium in patients from Goiânia, Goiás, Brazil.

Pterygium is an inflammatory and degenerative ocular surface disease in which the conjunctiva on the cornea grows to form a fibrous tissue in the shape of a triangle. The disorder may be characterized by cell proliferation, inflammatory processes, fibrosis, angiogenesis, and destruction of the extracellular matrix. The anomaly is considered a degenerative eye disease and is erroneously confused with cataract. It displays similar features to those of tumors, such as local invasion, metaplasia of epithelial cells, presence of oncogenic viruses (human papilloma virus), inactivation of tumor suppressor genes (e.g., p53), and loss of heterozygosity. The treatment of pterygium is based on factors such as the evolution and progression of the disease, risk factors, symptoms, and patient age. Considerations about the best technique for the surgical removal of pterygium remain controversial, and complications and recurrence are very common. The development of new surgical techniques and adjuvant drugs is thus necessary. This study aims to analyze and compare the frequency of the GSTT1 genotypes in relation to pterygium through statistical analyzes in order to build a genotypic profile for the Replicon patients. The genotypic profile of the GSTT1-null polymorphism in Goiânia showed no significant difference when the frequency of the null genotype was compared between the control and experimental groups. The null genotype was more frequent in the population studied. Furthermore, the GSTT1 genotype was not related to the analyzed risk factors for pterygium, namely gender, ethnicity, family history, occupational exposure, smoking, hypertension, and diabetes.

Auxological outcome of growth hormone therapy at cessation of treatment in a cohort of growth hormone deficient Sri Lankan patients.

INTRODUCTION: Recombinant human growth hormone (r-hGH) for growth hormone deficiency (GHD) has been available free in the state hospitals of Sri Lanka since 2009. OBJECTIVES: The aims were to compare height standard deviation scores (SDS) before and after treatment and compare heights at final assessment in relation to the target height (TH) and TH range. METHODS: Patients with confirmed GHD followed up at the University Unit of the Lady Ridgeway Hospital, Colombo were studied. Anthropometric data were prospectively recorded from presentation to cessation of therapy. The height SDS before and after treatment were calculated and the heights at final assessment were compared with the TH and TH range. RESULTS: Sixteen patients (15 boys) had completed treatment. The mean age at diagnosis was 145.38 (SD=34.28) months with a mean skeletal age of 97.5 (SD=42.85) months. Mean ages at commencement was 164.75 (SD=36.81) months and at cessation of therapy 212.06 (SD=30.12) months duration of therapy was 47.31 (SD=23.99) months.Majority had isolated GHD and 8 patients had pituitary hypoplasia on neuro-imaging. The height SDS improved significantly with treatment from -4.438 (1.18) to -3.37 (0.81), p<0.001. When finally assessed at ages ranging from 15 years 10 months to 26 years 9 months, one patient had reached the TH while six were in the TH range. CONCLUSIONS: Auxological response to therapy was significant although treatment was started late due to financial constraints.

Androgen insensitivity syndrome in a cohort of Sri Lankan children with 46, XY disorders of sex development (46, XY DSD).

INTRODUCTION: There are several conditions giving rise to 46, XY disorders of sex development (DSD) with different modes of inheritance. Therefore definitive diagnosis based on molecular genetic confirmation would be the ideal to counsel parents regarding the future implications of the condition affecting their baby. This is the first report from Sri Lanka documenting the presence of mutations in the androgen receptor (AR) gene in a cohort of children with 46, XY DSD. OBJECTIVES: To describe the socio-demographic and clinical features and document the presence of mutations in the androgen receptor (AR) gene in a cohort of children with 46, XY DSD. METHODS: 46, XY patients with ambiguous genitalia followed up in the University Unit at the Lady Ridgeway Hospital, Colombo, and clinically identified as having androgen insensitivity syndrome (AIS) or a testosterone biosynthetic defect were recruited for the study. Their socio-demographic details and clinical features were documented. Exons 1 to 8 of the AR gene were screened for mutations by DNA sequencing on a venous blood sample. SRY gene mutations were also assayed. RESULTS: Thirty-four patients were studied, 3 of whom were clinically diagnosed as having complete androgen insensitivity syndrome (CAIS). Sex of rearing was female and male in 4 and 30 respectively. AR gene mutations were detected in 6 patients (17.6%). None of the patients had SRY gene mutations. CONCLUSIONS: Majority (88%) of the patients were raised as males. Six patients (17.6%) including the 3 with CAIS, had genetically confirmed AIS with the detection of AR gene mutations.

Association between primary open angle glaucoma and genetic polymorphisms GSTM1/GSTT1 in patients from Goiânia Central-West Region of Brazil.

In this study, we evaluated the genotype profile of GSTM1 and GSTT1 polymorphisms in patient carriers of primary open-angle glaucoma in the population of Goiânia, GO, Brazil. This case-control study included 100 Brazilian patients with glaucoma and 53 patients without glaucoma. Blood samples were genotyped for polymorphisms in GST genes using polymerase chain reaction-based methods. Polymorphism frequencies were compared using the X(2) test and odds ratio (α = 0.05). The GSTM1-present genotype was 40% in the glaucoma group and 71.6% in the control group, while the GSTM1 null genotype was 60 and 28.3% in the same groups, respectively. The GSTT1-present genotype was 52% in the primary open-angle glaucoma group and 66% in the control group; the null genotype was 48% in the case group and 34% in the control group. The GSTM1 null genotype was more frequent in the glaucoma group than in the control group (P = 0.0004; odds ratio = 6.7; 95% confidence interval = 2.7- 20.3). The combined GSTM1 null and GSTT1-present genotypes were more frequent in the primary open-angle glaucoma group compared to the control group (P = 0.02; odds ratio = 3.1; 95% confidence interval = 1.2-7.9).