Association analysis of Epworth Sleepiness Scale (ESS) scores with serotonin transporter (5-HTT- LPR, 5-HTT-VNTR) and circadian (PER3-VNTR) genes.

Excessive daytime sleepiness (EDS) is a common complaint encountered in clinical practice with serious consequences both for individual and society since it can increase the ratio of motor vehicle accidents, work- related incidents, and deaths. Moreover, it also manifests less serious individual consequences. This study aimed to investigate the potential role of PER3-VNTR, 5-HTT-LPR, and 5-HTT-VNTR in terms of constituting liability to EDS. Two hundred eighteen participants (93 complaining about daytime sleepiness and 125 individuals with no serious complaint) were recruited in the study. General daytime of sleepiness was quantified with Epworth sleepiness scale (ESS). DNA extractions were performed from collected blood samples with standart salting-out procedure and genotyped. ESS scores displayed difference between individuals suffering from sleep disturbances and other individuals with values of 12.75±4.55 and 6.34±4.26, respectively. PER3- VNTR and 5-HTT-LPR genotypes did not display association with mean ESS scores. However, 5-HTT-VNTR genotypes showed significant association with mean ESS scores; individuals with 10/10 genotypes had the highest ESS score reflecting this genotype as a liability factor for EDS. We strongly recommend further studies based on circadian/serotonin pathway genes in different populations to reach to a consensus and highlight sleep genetic marker genes which then can be the future targets of pharmacological treatment studies for sleep problems.

Relación del síndrome metabólico con el cáncer de mama posmenopáusico / Relationship Between Metabolic Syndrome and Postmenopausal Breast Cancer

INTRODUCCIÓN: El síndrome metabólico (SM) se asocia con un aumento del riesgo de diabetes mellitus (DM) y cardiopatía coronaria. El SM también puede estar asociado con un aumento del riesgo de algunos cánceres frecuentes. El objetivo de este estudio fue determinar la relación entre el SM y el cáncer de mama en mujeres posmenopáusicas. MÉTODOS: Estudio de cohortes prospectivo de mujeres posmenopáusicas. Dicha cohorte se dividió en dos grupos: el «grupo con un diagnóstico benigno», formado por mujeres a las cuales se les realizó un seguimiento por cribado del cáncer de mama, y el «grupo con un tumor maligno», formado por pacientes con cáncer de mama diagnosticado por biopsia. Se analizaron como variables a estudio la edad, peso, altura, índice de masa corporal (IMC), perímetro abdominal, glucosa sérica, LDL, HDL y niveles de insulina. Se utilizó la fórmula del modelo homeostático HOMA-IR para evaluar la resistencia a la insulina. Las diferencias se consideraron estadísticamente significativas cuando p < 0,05. RESULTADOS: Doscientas mujeres con una media de edad de 61,5 ± 9,6 años (rango: 37-93) se inscribieron en el estudio que consta de 150 (75%) pacientes en el grupo con un diagnóstico benigno y 50 (25%) pacientes en el grupo con un tumor maligno. El IMC y el perímetro abdominal fueron mayores en el grupo con un tumor maligno (p < 0,05). La incidencia de DM y SM fue mayor en el grupo con un tumor maligno (p < 0,005). En el grupo con un tumor maligno se detectaron incidencias mucho más altas en relación con los niveles glucémicos en ayunas > 100 mg/dl, los niveles de insulina > 10 mUI/l y puntuaciones en el HOMA-IR > 2,7 (p < 0,05). CONCLUSIONES: Existe relación entre el SM y el cáncer de mama posmenopáusico. Son necesarios más estudios para establecer métodos de protección para la prevención del cáncer de mama en mujeres con SM

INTRODUCTION: Metabolic syndrome is associated with an increased risk of diabetes mellitus (DM) and coronary heart disease. It may also be associated with a higher risk of some common cancers. The objective of this study was to determine the relationship between metabolic syndrome and breast cancer in postmenopausal women. METHODS: We present a prospective cohort study of postmenopausal women. This cohort was divided into two groups: the «benign diagnosis group», including women who were studied after breast cancer screening; and the «malignant tumor group», including patients with breast cancer that had been diagnosed by biopsy. Age, weight, height, body mass index (BMI), abdominal perimeter, serum glucose, LDL, HDL and insulin levels were analyzed as variables under study. The HOMA-IR homeostatic model formula was used to assess insulin resistance. The differences were considered statistically significant when P < .05. RESULTS: Two hundred women with a mean age of 61.5±9.6 (range: 37-93) were enrolled in the study, consisting of 150 (75%) patients with a benign diagnosis and 50 (25%) patients with a malignant tumor. BMI and abdominal perimeter were higher in the group with a malignant tumor (P < .05). The incidence of DM and metabolic syndrome was higher in the malignant tumor group (P < .005). In the malignant tumor group, much higher incidences correlated with fasting glycemic levels > 100 mg/dL, insulin levels > 10 mIU/L and HOMA-IR scores > 2.7 (P < .05). CONCLUSIONS: There is a relationship between metabolic syndrome and postmenopausal breast cancer. More studies are needed to establish methods for the prevention of breast cancer in women with metabolic syndrome

Relationship Between Metabolic Syndrome and Postmenopausal Breast Cancer. / Relación del síndrome metabólico con el cáncer de mama posmenopáusico.

INTRODUCTION: Metabolic syndrome is associated with an increased risk of diabetes mellitus (DM) and coronary heart disease. It may also be associated with a higher risk of some common cancers. The objective of this study was to determine the relationship between metabolic syndrome and breast cancer in postmenopausal women. METHODS: We present a prospective cohort study of postmenopausal women. This cohort was divided into two groups: the «benign diagnosis group¼, including women who were studied after breast cancer screening; and the «malignant tumor group¼, including patients with breast cancer that had been diagnosed by biopsy. Age, weight, height, body mass index (BMI), abdominal perimeter, serum glucose, LDL, HDL and insulin levels were analyzed as variables under study. The HOMA-IR homeostatic model formula was used to assess insulin resistance. The differences were considered statistically significant when P<.05. RESULTS: Two hundred women with a mean age of 61.5±9.6 (range: 37-93) were enrolled in the study, consisting of 150 (75%) patients with a benign diagnosis and 50 (25%) patients with a malignant tumor. BMI and abdominal perimeter were higher in the group with a malignant tumor (P<.05). The incidence of DM and metabolic syndrome was higher in the malignant tumor group (P<.005). In the malignant tumor group, much higher incidences correlated with fasting glycemic levels >100mg/dL, insulin levels >10mIU/L and HOMA-IR scores >2.7 (P<.05). CONCLUSIONS: There is a relationship between metabolic syndrome and postmenopausal breast cancer. More studies are needed to establish methods for the prevention of breast cancer in women with metabolic syndrome.

The Relation of Cytotoxin-Associated Gene-A Seropositivity with Vitamin B12 Deficiency in Helicobacter pylori-Positive Patients.

BACKGROUND AND AIM: As a worldwide infectious bacterium, H. pylori leads to stomach pathologies such as gastritis, peptic ulcer, gastric cancer, MALToma, and various extragastric manifestations. In our study, we aimed to investigate the association between serum vitamin B12 level and cytotoxin-associated gene-A (CagA) seropositivity, which is one of the virulence factors of Helicobacter pylori (H. pylori). METHOD: This study has been conducted on 289 patients who have met the inclusion criteria. Within these patients, 213 of them were H. pylori positive and 76 were negative. Vitamin B12 and CagA-IgG levels were assessed in consecutive dyspeptic patients undergoing upper endoscopy. RESULTS: Out of 289 patients, 51.9% were women (n = 150) and H. pylori was detected in 213 (73.7%) patients. Histopathological evaluation with modified Sydney classification revealed lymphocyte infiltration in 66.8% (n = 193), activation in 46% (n = 133), metaplasia in 11.4% (n = 33), atrophy in 11.4% (n = 33), and lymphoid follicles in 21.1% (n = 61) of the patients. Within H. pylori-positive patients, the ratio of CagA positivity was 57.3% (n = 122). Low B12 vitamin level was significantly correlated with existence of H. pylori (p=0.02), CagA (p=0.002), lymphocyte (p=0.006), metaplasia (p=0.001), atrophy (p=0.001), and lymphoid follicles (p=0.006). Positivity of CagA has been detected to be statistically corelated with lymphocyte (p=0.001) and activation (p=0.005); however, the same relation was not present with atrophy (p=0.236). CONCLUSION: In conclusion, B12 deficiency was positively correlated with CagA positivity and gastric inflammatory activity.

Assessment of the factors influencing primary care physicians' approach to vaccination of adult risk groups in Istanbul, Turkey.

BACKGROUND: We aimed to assess the factors influencing primary care physicians' (PCPs) approach to adult vaccination in specific risk groups and evaluate the compliance to adult immunization guidelines. METHODS: This cross-sectional study performed between January 2016 and April 2016 in Istanbul, Turkey. A questionnaire designed to obtain physicians' demographical data, experience, immunization status, and attitude on prescribing or recommending vaccines for adults in the risk group. Healthy individuals older than 65 and patients suffer from chronic diseases or had splenectomy before are considered as a risk group. The questionnaire was sent via email to a randomly selected group of 1,500 PCPs. The data of 221 physicians who responded emails were recorded for statistical analysis. RESULTS: Of the 221 participants (123 women, 98 men), the majority were aged 31-40 years. Their vaccination rates were 74.2% for hepatitis B, 54.3% for seasonal influenza, and 47.1% for tetanus. Among participants, the highest recommendation and prescription rate of adult vaccines was recorded in PCPs aged 31-40 years. In addition, PCPs with <10 years occupational experience were found to prescribe adult vaccines more frequently than PCPs with longer occupational experience. CONCLUSIONS: Primary care physicians with lower age and relatively less experience are more intent to prescribe adult vaccines to patients that are in risk groups. This result may be due to increased awareness of adult immunization among PCPs who had more recent medical training. However, many other factors could have caused this difference, including physicians' approach to primary medical care.

Prevalence of Metabolic Syndrome in Middle School Children and Evaluation of Components of Metabolic Syndrome.

OBJECTIVES: This study was designed to determine the prevalence of metabolic syndrome (MS) in Turkish children and to examine the relationship between MS components in this age group. METHODS: A total of 395 students in Istanbul aged 10 to 14 years in the 2004-2005 school year were enrolled in the study. Body weight, height, waist circumference, hip circumference, and systolic-diastolic blood pressure were measured. Of the total, 353 provided blood samples for analysis of fasting glucose level, basal insulin, total cholesterol, triglyceride, high-density lipoprotein (HDL), low-density lipoprotein (LDL), and very-low-density lipoprotein (VLDL) levels. Modified World Health Organization criteria were used for the diagnosis of MS. RESULTS: In this study, 44.5% of the children were female and 55.5% were male. The mean body mass index (BMI) was 20.57±3.48 kg/m², 10.4% (n=41) were overweight, and 12.7% (n=50) were obese. MS was diagnosed in 0.85% of the entire study group and in 6% of the obese children. There was a positive correlation between BMI and waist circumference (p<0.001), waist/hip ratio (p<0.001), systolic blood pressure (p<0.001), diastolic blood pressure (p<0.001), basal insulin level (p<0.001), homeostasis model assessment of insulin resistance (p<0.001), triglyceride value (p<0.001), total cholesterol level (p<0.05), LDL (p<0.001), and VLDL level (p<0.001), and a negative correlation with HDL level (p<0.001). CONCLUSION: The study results confirmed that MS is present in children and not limited to adults, and this is an important health problem. The prevalence of MS is more common in obese children. Therefore, early diagnosis of obese children and examination of cardiovascular risk factors and metabolic syndrome criteria is very important.

Systemic juvenile idiopathic arthritis as a fever of unknown origin.

Juvenile idiopathic arthritis (JIA) is a rare inflammation with still unidentified cause. It can also be cause of fever of unknown origin. Diagnosis is made by eliminating infection, malignancy, and rheumatological diseases. In this report, case of a 5-year-old patient with symptoms of intermittent fever, areas of rash on the body, itching, and swelling, redness, and pain in the right and left ankle is described. Serological test results were negative for infectious agents, and malignancy was excluded. Patient was diagnosed with systemic JIA associated with intermittent fever, negative rheumatological markers and negative serology test results. Treatment with methylprednisolone and methotrexate yielded positive clinical response. Diagnosis of systemic JIA can be challenging, and must be made by eliminating other diseases.

Lack of association between MAOA-uVNTR variants and excessive daytime sleepiness.

Sleep disorders are highly prevalent in the population and have dramatic health, social, and economic impacts. However, their treatments may remain symptomatic due to ignorance of molecular factors which may provide fundamental insights into the neurological bases of sleep. Excessive daytime sleepiness (EDS) is a common complaint encountered in neurological practice with significant effects both on individuals and on society. We aimed to investigate the role of monoamine oxidase A (MAOA) as a candidate gene in EDS. Epworth sleepiness scale (ESS) was applied to 221 subjects who were also genotyped for MAOA upstream variable number of tandem repeats (MAOA-uVNTR). Patient group displayed higher ESS values (mean 12.67) when compared with the control group (mean 6.38). However, MAOA-uVNTR genotypes did not show a significant association with ESS scores neither on women nor on men. Finally, these data suggest further replications in different populations. Moreover, the investigation of some other genes together with MAOA and/or some possible regulatory molecular mechanisms may offer a more comprehensive approach in the role of genetic factors contributing to EDS.

The evaluation of plasma viscosity and endothelial dysfunction in smoking individuals.

BACKGROUND: Smoking is considered to be one the of risk factors effecting atherosclerosis which is associated the physical forces, biological and chemical stimuli occuring in vessel wall. The aim of this study is analysis of the biomechanical (plasma viscosity) and biochemical effect (nitric oxide, NOx; asymmetric dimethylarginine, ADMA) of smoking on endothelial function. METHODS: One hundred-twenty two individuals were divided into three groups according to their smoking status. Plasma viscosity was measured by Harkness Capillary Viscometer. Plasma NOx level was determined by enzymatic methods using commercial kits. ADMA concentration was determined by Elisa Plasma Assay and and physiologic spirometric and arterial gas parameters and pulmonary blood flow rate (PBFR) were measured. RESULTS: Viscosity variables of former smokers were significantly higher than those of non-smokers (p < 0.001). NOx levels were found to be statistically significantly higher when compared with current smokers and non-smokers (p < 0.001), and former smokers and non-smokers (p < 0.05). There was a higher fibrinogen levels in current smokers (p < 0.05) than smokers. CONCLUSIONS: Smoking increases the plasma viscosity that may lead endothelial damage. Plasma viscosity plays an important role as a biophysical mechanical marker on the behalf of hemodynamics. Biochemical markers, NOx and ADMA may show this damage, however, we observed that plasma viscosity can be consistent with biochemical markers. Thus, plasma viscosity may be useful for diagnosis, treatment and follow-up of the patients.

Blood viscosity as a forgotten factor and its effect on pulmonary flow.

BACKGROUND: The effect of smoking on blood viscosity is widely known. There are, however, few studies on the effect of blood viscosity on pulmonary circulation. METHODS: We aimed to observe the relationship between blood viscosity and pulmonary circulation among smokers and non-smokers. The study comprised 114 subjects in three groups: group 1, ex-smokers; group 2, smoked at least 10 packs/year and still smoking; group 3, never smoked. Blood viscosity (BV), pulmonary blood flow (PBF), and right ventricular systolic pressure (RVSP) were measured in all subjects. RESULTS: PBF was significantly lower in group 1 compared with group 3 (p < 0.05). BV in group 1 was significantly higher than group 3 (p < 0.05) while BV in group 2 was significantly higher than group 3 (p < 0.05). PBF in group 2 was significantly lower than group 3 (p = 0.01). CONCLUSIONS: We believe that BV is a significant and forgotten factor that plays an important role in pulmonary and cardiovascular diseases. BV may affect PF even during the course of smoking, and before the clinical onset of chronic obstructive pulmonary disease (COPD). Therefore, individuals at risk of pulmonary hypertension could be detected earlier with a simple blood test.

Socio-economic status of smokers presenting to the outpatient service: does chronic obstructive pulmonary disease make a difference?

BACKGROUND: Sparse published data are available on the impact of social and personal factors leading to tobacco smoking. Identification of social and economic motives underlying smoking can facilitate the efforts towards control of tobacco smoking. METHODS: A questionnaire was administered to 966 smokers attending the Chest Diseases Out-patient clinic at the Haseki Training and Research Hospital, Istanbul to collect demographic data from the participants. In all of them spirometry was performed. RESULTS: The participants with chronic obstructive pulmonary diseases (COPD) were less benefiting from social security system and they were less educated. Patients with COPD were generally living in cities. In this group the number of divorced patients were more than the other group. CONCLUSIONS: There are many factors causing individuals to initiate smoking. By eliminating these factors, mortality and morbidity rates caused by smoking will decline dramatically. This study aims to draw attention on personal and social factors for smoking.

Pulmonary functions in patients with subclinical hypothyroidism.

OBJECTIVE: To determine whether alterations in pulmonary function takes place in subclinical hypothyroidism by examining the diffusion lung capacity and muscle strength of such patients. METHODS: This is a descriptive study conducted in 2009 at Haseki Training and Research Hospital, Istanbul, Turkey. Hundred and twenty-six patients with subclinical hypothyroidism and 58 age and sex matched individuals were recruited. Simple spirometry tests were performed, and pulmonary diffusion capacity (DLco) and muscle strength were measured. RESULTS: ScH patients showed a significant reduciton of the following pulmonary function tests (% predicted value) as compared with control subjects: FVC, FEV1, FEV1%, FEF25-75, FEF25-75%, DLco, DLco/VA, Pimax, Pimax% and Pemax%. CONCLUSION: These data indicate that pulmonary functions are effected in subclinical hypothyrodism. Therefore patients with or who are at high risk of having subclinical hypothyroidism, should be subjected to evaluation of pulmonary functions with simple spirometry.

The assessment of pulmonary diffusing capacity in diabetes mellitus with regard to microalbuminuria.

OBJECTIVE: The current study was conducted to determine whether or not the lung is one of the target organs in the development of vascular complications in diabetic patients. We also investigated the relationship between pulmonary diffusing capacity and microalbuminuria. MATERIALS AND METHODS: A total of 68 patients with type 2 diabetes and 44 with type 1 diabetes (male/female [M/F] n=19/49 and 15/29; age: 52.4+/-8.8 and 32.5+/-11 years;) and 80 healthy controls (M/F=22/58; age=40.1+/-12.4 years) were recruited for the study. All of the participants were evaluated with simple spirometric tests and a simple breath carbon monoxide (CO) diffusion test. CO lung diffusion capacity (DLCO) and the ratio of DLCO value to the alveolar volume (VA) were used to assess alveolar membrane permeability (DLCO/VA). Urinary albumin excretion (UAE) per day of the participants was also evaluated. RESULTS: DLCO, DLCO% and DLCO/VA% values were significantly lower in diabetics than in the control group (p=0.006; p=0.039; p=0.003, respectively). UAE was inversely correlated with DLCO, DLCO/VA, DLCO/VA% and DLCO% (p=0.050; p=<0.001; p=0.001; p=0.004, respectively). CONCLUSION: This study demonstrated that alveolar gas exchange capacity is significantly decreased in diabetic patients. Microalbuminuria may be one of the predictors of this decline.

Spirometry in patients with clinical and subclinical hypothyroidism.

It is well known that respiratory functions are affected at clinical hypothyroidism. Simple spirometry which is a cheap and simple method is performed to the patients with subclinical hypothyroidism in order to determine if respiratory functions are affected or not. Recently diagnosed 87 patients with clinical hypothyroidism, 120 patients with subclinical hypothyroidism and 60 healthy subjects were enrolled in the study. Serum plasma levels of fT3, fT4 and TSH were measured and spirometry test is performed to healthy subjects and patients with clinical and subclinical hypothyroidism. There was a significant difference when groups with subclinical and clinical hypothyroidism were compared with control group. The comparison of subclinical and clinical hypothyroidism revealed a slight elevation at all of the spirometric parameters in favor of subclinical hypothyroidism which did not reach statistical significance (p> 0.05). Respiratory functions may be affected in patients with subclinical hypothyroidism as it is with clinical hypothyroidism; therefore we think that recommend community screening for respiratory functions in patients who may be at risk of subclinical hypothyroidism may be helpful.