Syndrome In Group Of Patients Research Articles

The effect of hypertension on renal functions in patients with acute coronary syndrome

Objectives: In patients with acute coronary syndrome, age, ejection fraction, diabetes, hypertension, and chronic kidney disease (CKD) are regarded as independent risk factors for the development of acute kidney disease (ACD). This research evaluated the glomerular filtration rates (GFR) of acute coronary syndrome patient groups who were hypertensive and those who were not. Methods: This retrospective analysis comprised 764 patients with acute coronary syndrome who had applied to our institution before coronary angiography. There were two groups created from these patients. In the first group, there were 383 hypertensive patients; in the second group, there were 381 non-hypertensive patients. To assess how well these patients' kidneys were functioning, GFR was determined and compared. Results: The mean age of the two groups did not significantly differ from one another (p = 0.053). The standard lipid measures of total cholesterol, triglyceride, low-density lipoprotein-cholesterol, and high-density lipoprotein-cholesterol levels did not differ substantially between the two groups. The two groups had no discernible difference regarding high-sensitivity C-reactive protein, N-terminal fragment brain natriuretic peptides, creatinine, and thrombocyte levels. Systolic and diastolic blood pressure, as well as diabetes mellitus, were all considerably higher in the hypertensive patients’ group (p < 0.001). The GFR in hypertensive patients was substantially lower (64.83 ± 19.76 vs. 70.71 ± 19.19, p < 0.001) Conclusions: Our research revealed a strong link between hypertension and diminished renal function. This leads us to believe that hypertension may be a separate risk factor for the decline in renal function in acute coronary syndrome patients.

Elevated Cardiovascular Disease Risk in Patients with Restless Legs Syndrome.

There are studies in the literature that link restless legs syndrome with increasing cardiovascular disease risk. The reason for this was that increased sympathomimetic activation in restless legs syndrome causes tachycardia, hypertension, and autonomic instability. We intended to assess the cardiovascular disease risk in patients with restless legs syndrome using electrocardiogram parameters. The present investigation compared the demographic characteristics, electrocardiogram variables, and lab results of 40 patients diagnosed with restless legs syndrome with 43 healthy controls. Restless legs syndrome patients had a higher frontal QRS-T angle than healthy control patients. Restless legs syndrome patients had lower hemoglobin, neutrophil, lymphocyte, basophil, albumin, and high-density lipoprotein cholesterol levels. There was a significant increase in eosinophil, platelet, C-reactive protein, total cholesterol, low-density lipoprotein cholesterol, platelet-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, and C-reactive protein-to-albumin ratio values in patients with restless legs syndrome. The frontal QRS-T angle is highly correlated with the neutrophil-to-lymphocyte ratio (P = .001). Similarly, monocyte-to-lymphocyte ratio and C-reactive protein-to-albumin ratio values were significantly correlated with frontal QRS-T (P = .011 and P = .24). The fact that frontal QRS-T angle and neutrophil-to-lymphocyte ratio were correlated in the restless legs syndrome group in our study suggests that the inflammatory process may have increased the risk of cardiovascular disease in restless legs syndrome patients. Our findings show that the frontal QRS-T angle is high in restless legs syndrome patients. We conclude that C-reactive protein-to-albumin ratio, neutrophil-to-lymphocyte ratio, and monocyte-to-lymphocyte ratio are higher in the restless legs syndrome patient group and are related to cardiovascular disease risk.

Evaluation of patients with antiphospholipid syndrome subsequently COVID-19 vaccinations: A retrospective cohort study.

The aim of this study is to evaluate development of side effects, thrombotic or obstetric complications in our antiphospholipid syndrome (APS) patient group, after vaccination against coronavirus disease 2019 (COVID-19). A cohort was formed from patients who have previously been followed up with a diagnosis of APS. The patients of the cohort were evaluated retrospectively to find out if they were vaccinated with CoronaVac and/or BNT162b2 vaccines which are being used in our country. To evaluate the side effects seen after the vaccination, the information was collected by the patients in their outpatient appointments or making a phone call. Thirty-five APS patients who had received at least 1 dose of any of the COVID-19 vaccines were included in the study. Median (min-max) number of vaccine doses per patient was 2 (1-3). Eleven patients had a booster dose after primary vaccination. Twenty patients were ever vaccinated with BNT162b2 and 18 with CoronaVac. Among BNT162b2 recipients, 9 (45.0%) and among CoronaVac recipients 15 (42.9%) reported an adverse event after a vaccine administration. The most common adverse events were myalgia and malaise after any dose of both vaccines. No vaccine-related new thrombotic events or APS flares were observed. Our results were comparable with those reported in the literature. Comprehensive large-scale studies are needed for more accurate results on the evaluation of side effects after COVID-19 vaccination in APS patients.

Brain morphometric changes in patients with fibromyalgia.

The aim of this study was to determine whether there is a decrease or an increase in the volume of different regions of the brain by comparing brain morphometry ofpatients diagnosed with Fibromyalgia Syndrome and healthy control subjects. The study included 23 female patients who were diagnosed with fibromyalgia, and 18 females, age-matched healthy subjects. Structural Mitral Regurgitation data was processed using Surface-Based Morphometry (SBM) on the Freesurfer 6.0 programme (http://surfer.nmr.mgh.harvard.edu). As a result of the surface-based analyses, a statistically significant reduction was determined in the Fibromyalgia Syndrome patient group in some brain region. A statistically signficant increase was determined in the FMS patient group with respect to the left anterior occipital sulcus volume, left inferior temporal gyrus thickness and left anterior occipital sulcus area. The results of this study showed that FMS affected brain morphometry through the brain central pain mechanisms and the normal brain morphology was changed because of atrophy in some areas and hypertrophy in some areas.

An Adaptive Approach to Detection of Dermatoglyphic Patterns of Bangladeshi People With Down Syndrome Using Fingerprint Classification

Introduction: Dermatoglyphics is studying the patterns of the ridged skin of the palms, fingers, soles and toes. The patterns are formed early in the foetus. This study was designed to observe dermatoglyphic changes amongst the Down syndrome patients and compare the change with the typical healthy research participants. Materials and Methods: This cross-sectional observational analytical study was conducted in the Department of Anatomy, Chittagong Medical College (CMC), Chattogram, from January 2018 to January 2019. A total of 200 participants were included by convenient sampling according to inclusion and exclusion criteria. One hundred Down syndrome patients were recruited in the study group from different Down syndrome society organisations in Bangladesh. One hundred other medical science and dental background students studying at CMC were selected as controls irrespective of sex. Dermatoglyphic print was taken by the ink and paper method. The detailed dermatoglyphic analysis was done by using a magnifying glass, calculator and scale. A two-sample proportion test has been conducted to compare the proportion of fingerprint patterns of whorls, ulnar loops, radial loops and arches of both hands in the Down syndrome patient and control groups. Multiple linear regression analyses were conducted to evaluate the prediction of fingerprint pattern from the presence of Down syndrome and gender. Results: It is observed that the ulnar loop is more prominent in both hands of Down syndrome patients than in the control group irrespective of sex (P < 0.001), while arch and whorl patterns are more prominent in controls than in Down syndrome patients (P < 0.001). Conclusion: It is revealed that there were significant differences in fingertip print patterns between Down syndrome patients and healthy controls. Hence, it can be used as a diagnostic aid for the Down syndrome patient.

Complete atrioventricular septal defect: Impact of Down syndrome on atrioventricular valve morphology and haemodynamics and clinical outcomes

Complete atrioventricular septal defect (CAVSD) is a common congenital heart disease among children with Donw syndrome Investigate the impact of Down syndrome on atrioventricular valve morphology and haemodynamics as well as on outcomes in children with CAVSD. We performed a single-centre, retrospective, analytic study with a prospective follow-up in the Congenital Heart Disease Unit of cardiology department over a 9-year period (from December 2008 to September 2017).We compared 2 groups of patients with CAVSD: Down syndrome patients (group 1) and non-Down syndrome patients (group 2). Among the 2778 patients registered in our CHD Unit during the study period, 225 (8%) were diagnosed with CAVSD, 121 (54%) in group 1 and 104 (46%) in group 2. Median age at diagnosis was 5 months [0–17 years] in group 1 versus 5 months [1month–10 years] in group 2. The situs was solitus in all group 1 patients. However, in group 2, the situs was inversus in 4 patients (3.8%) and ambiguous in 17 (16.3%) (P < 0.001). Ventricles were unbalanced in 4 patients (3.3%) in group 1 versus 30patients (28.8%)in group 2 (P < 0.001). Atrioventricular valve annulus was hypoplastic in 6 patients (5.8%) of group 2 whereas all patients in group 1 had a normally developed atrioventricular valve annulus (P = 0.024). Papillary muscles were abnormal in 8 patients (6.6%) in group 1 versus 15 patients (14.4%) of group 2 (P = 0.048). Significant preoperative left atrioventricular valve regurgitation was lower in group 1 patients: 11 (9.1%) versus 23 (22.1%) (P = 0.02). Median age at surgery was 6 months [1month–7 years] in group 1 versus 7 months [1month–11 years] in group 2 (P = 0.023). Mortality rate was lower in group 1; 14 (11.5%) versus 23 (22.1%) (P = 0.03). Down syndrome patients have a better atrioventricular valve anatomy, fewer preoperative left atrioventricular valve regurgitation and a lower long-term mortality rate after surgery.

Cytokine profiles and clinical characteristics in primary Sjögren´s syndrome patient groups.

BackgroundPrimary Sjögren's syndrome (pSS) is an autoimmune disease characterized by a lymphocytic infiltrate in salivary glands driving to epithelial damage. The pSS patients present heterogenic clinical and serological characteristics. This heterogenicity could be due to the cytokine microenvironment. Cytokine levels have been analyzed and reported individually, showing controversial results; for that reason, we considered essential to evaluate a cluster of cytokines and relate them with antibody levels and clinical characteristics to find pSS subgroups.MethodsNinety‐nine pSS patients, diagnosed by the 2016 ACR/EULAR classification criteria, and 76 control subjects (CS) were included. Cytokine quantification was performed by Multiplex assay. Principal component analysis (PCA) was realized, and the K‐mean test was used to identify clusters/groups. Groups were analyzed by the Kruskal‐Wallis test and the Bonferroni test.ResultsHigher IFN‐γ, IL‐17F, IL‐21, IL‐23, IL‐4, and IL‐31 levels were observed in pSS patients in comparison with control subjects. PCA analysis showed three groups. The severe group was characterized by higher cytokine concentrations as well as an increase in clinical parameters such as antibody levels, damage index score, and others. The moderate group presented intermediate severity; meanwhile, the mild group presented the lowest severity.ConclusionCluster analysis revealed three groups that were different in cytokine levels and clinical parameters in which the mild group was defined by lower severity, the moderate group with intermediate severity, and the severe group with higher severity. This analysis could help subclassify the primary Sjögren syndrome patients for a better understanding of the clinical phenotype that impacts the treatment approach.

Growth Differentiation Factor 15 in Patients with Acute Coronary Syndrome and Its Relation to Type 2 Diabetes Mellitus

Background: Growth differentiation factor 15 (GDF15) gene expression level is a novel biomarker that reflects inflammation and oxidative stress in patients with acute coronary syndrome and those complicated with type 2 diabetes mellitus (T2DM). Growth differentiation factor 15 high levels could be a reliable sensitive biomarker for the prediction of acute coronary syndrome. Patients and Methods: This Cross-sectional/case-control study was conducted at the Cardiology Department, Assiut University during the period from January 2018 to December 2019, and patients were selected with the exclusion of any inflammatory or autoimmune disease. Results: Growth differentiation factor 15 gene expression was significantly higher in acute coronary syndrome patients compared to the controls (p-value <0.001) and its expression was significantly higher in acute coronary syndrome patients with type 2 diabetes mellitus group compared to acute coronary syndrome patient group (p-value<0.05). Growth differentiation factor 15 had 92% sensitivity and 77% specificity in the prediction of acute coronary syndrome which was statistically significant (p-value< 0.001), while yielded 73% sensitivity and 53% specificity of no statistical significance (p-value=0.829) in the prediction of type 2 diabetes mellitus among patients with acute coronary syndrome. Conclusion: Growth differentiation factor 15 gene expression could be used as a reliable sensitive biomarker for prediction of the acute coronary syndrome but more studies will be mandatory soon to clarify its role as a predictive marker for type 2 diabetes mellitus development among patients with the acute coronary syndrome.

Association Between Burning Mouth Syndrome and the Development of Depression, Anxiety, Dementia, and Parkinson Disease

Burning mouth syndrome is a chronic oral pain disorder that is characterized by a generalized or localized burning sensation without the presence of any specific mucosal lesions. It remains unclear, however, whether burning mouth syndrome is associated with the development of psychoneurological conditions among patients with the syndrome. To evaluate the risk of developing psychoneurological conditions, including depression, anxiety, dementia, and Parkinson disease, in patients with burning mouth syndrome. This retrospective population-based cohort study was conducted using a nationwide representative cohort sample from the Korean National Health Insurance Service-National Sample Cohort, which consists of data from approximately 1 million patients in South Korea. The study included 586 patients with burning mouth syndrome (patient group) and 1172 individuals without burning mouth syndrome (comparison group). The patient group included all patients who received inpatient and outpatient care for an initial diagnosis of burning mouth syndrome between January 1, 2002, and December 31, 2012. The comparison group was selected (2 individuals without burning mouth syndrome for each patient with burning mouth syndrome) using propensity score matching for sex, age, location of residence, household income level, and comorbidities. Data were collected and analyzed from January 1, 2002, to December 31, 2013. Death and the incidence of psychopathological diseases. Affective disorder events that occurred among participants during the follow-up period were investigated using survival analysis, a log-rank test, and Cox proportional hazards regression models to estimate the incidence rates, survival rates, and hazard ratios, respectively, of participants who developed psychoneurological conditions. Of 1758 total participants, 1086 (61.8%) were female; 701 participants (39.9%) were younger than 45 years, 667 (37.9%) were aged 45 to 64 years, and 390 (22.2%) were older than 64 years. The overall incidence of depression and anxiety was higher in patients with burning mouth syndrome (n = 586; 30.8 incidents and 44.2 incidents per 1000 person-years, respectively) than in individuals without burning mouth syndrome (n = 1172; 11.7 incidents and 19.0 incidents per 1000 person-years, respectively). The results also indicated a similar incidence of dementia and Parkinson disease between the patient group (6.5 incidents and 2.5 incidents per 1000 person-years, respectively) and the comparison group (4.9 incidents and 1.7 incidents per 1000 person-years, respectively). After adjusting for sociodemographic factors (age, location of residence, household income level, and comorbidities), the adjusted hazard ratios for the development of depression and anxiety among patients with burning mouth syndrome were 2.77 (95% CI, 2.22-3.45) and 2.42 (95% CI, 2.02-2.90), respectively. However, no association was found between burning mouth syndrome and the risk of developing dementia and Parkinson disease. Results of this observational study suggest that burning mouth syndrome is associated with increases in the incidence of depression and anxiety but not in the incidence of dementia and Parkinson disease among patients with the syndrome. Clinicians should be aware of this association and be prepared to make referrals to appropriate mental health care professionals.

The effect of clomiphene citrate on oxidative stress parameters in polycystic ovarian syndrome

This study aimed to examine the possible association between the oxidative stress parameters and clomiphene citrate resistance in polycystic ovary syndrome. The demographic data, hormone profiles and oxidant and antioxidant values of 50 clomiphene citrate-resistant polycystic ovary syndrome patients (Group 1), 32 clomiphene citrate-sensitive polycystic ovary syndrome patients (Group 2) and 87 non-polycystic ovary syndrome patients (Group 3) were compared. The average age, follicle-stimulating hormone, oestradiol, thyroid-stimulating hormone and prolactin values of the three groups were found to be homogeneous. Ferroxidase, catalase and myeloperoxidase levels were determined to be lower in the clomiphene citrate-resistant group compared to clomiphene citrate-sensitive and non-polycystic ovary syndrome groups (p < .001). As a result, Polycystic ovary syndrome patients with clomiphene resistance had lower antioxidant (catalase and ferroxidase) levels compared to those who were sensitive to clomiphene and who did not have polycystic ovary syndrome. The myeloperoxidase levels also demonstrated the same trend, which might be due to a compensation mechanism. Impact Statement What is already known on this subject? In the literature, there are many studies evaluating the association between PCOS and oxidative stress. No research related to antioxidants in clomiphene citrate-sensitive and clomiphene citrate-resistant PCOS patients was found in the relevant literature. What do the results of this study add? In this study, the antioxidants catalase and ferroxidase were found to be lower in PCOS women compared to non-PCOS; however, they were the lowest in clomiphene citrate-resistant PCOS women. Interestingly, myeloperoxidase, which is a part of oxidative stress, was also found to be higher in the non-PCOS group. What are the implications of these findings for clinical practice and/or further research? This study contributes to the literature because it is the first to compare the relation between CC and oxidant and antioxidant markers. These markers will be a guide for PCOS management in patients with CC-R.

Prognosis for patients with cognitive motor dissociation identified by brain-computer interface.

Cognitive motor dissociation describes a subset of patients with disorders of consciousness who show neuroimaging evidence of consciousness but no detectable command-following behaviours. Although essential for family counselling, decision-making, and the design of rehabilitation programmes, the prognosis for patients with cognitive motor dissociation remains under-investigated. The current study included 78 patients with disorders of consciousness who showed no detectable command-following behaviours. These patients included 45 patients with unresponsive wakefulness syndrome and 33 patients in a minimally conscious state, as diagnosed using the Coma Recovery Scale-Revised. Each patient underwent an EEG-based brain-computer interface experiment, in which he or she was instructed to perform an item-selection task (i.e. select a photograph or a number from two candidates). Patients who achieved statistically significant brain-computer interface accuracies were identified as cognitive motor dissociation. Two evaluations using the Coma Recovery Scale-Revised, one before the experiment and the other 3 months later, were carried out to measure the patients' behavioural improvements. Among the 78 patients with disorders of consciousness, our results showed that within the unresponsive wakefulness syndrome patient group, 15 of 18 patients with cognitive motor dissociation (83.33%) regained consciousness, while only five of the other 27 unresponsive wakefulness syndrome patients without significant brain-computer interface accuracies (18.52%) regained consciousness. Furthermore, within the minimally conscious state patient group, 14 of 16 patients with cognitive motor dissociation (87.5%) showed improvements in their Coma Recovery Scale-Revised scores, whereas only four of the other 17 minimally conscious state patients without significant brain-computer interface accuracies (23.53%) had improved Coma Recovery Scale-Revised scores. Our results suggest that patients with cognitive motor dissociation have a better outcome than other patients. Our findings extend current knowledge of the prognosis for patients with cognitive motor dissociation and have important implications for brain-computer interface-based clinical diagnosis and prognosis for patients with disorders of consciousness.

Vitamin D level in nephrotic syndrome, Factors of impact?

Introduction Nephrotic syndrome (NS) usually responds to steroid therapy; however, the majority of children relapse, resulting in prolonged and repeated courses of steroid therapy. Vitamin D is a vital component of bone metabolism and calcium homeostasis. Maintenance of adequate levels of vitamin D is recommended to maintain good bone health and other organ systems of NS patients. The study aimed to assess serum 25 (OH) D levels in children with NS, compare its level with healthy age and sex-matched controls and compare its level in different types of NS. Patients and Methods It was a cross-sectional study for measuring 25(OH) D levels in 60 patients with NS and 60 apparently healthy children, to be compared as controls. Nephrotic patients were classified as steroid sensitive (20 cases) steroid dependent (20cases), and steroid resistant (20 cases). Serum 25-hydroxyvitamin [25(OH) D] was measured using Enzyme Linked Immune Sorbent Assay (ELISA) technique. Results Serum 25(OH) D was significantly lower in NS patients than control group (p<0.001).Steroid resistant nephrotic syndrome (SRNS) patient group showed the highest drop than the other 2 groups (p<0.001). There was significant negative correlation between vitamin D level and number of relapses, 24 hours urinary proteins and serum cholesterol. Conclusion It is recommended that NS patients especially on long term steroid therapy should undergo regular follow up of vitamin D level and early prophylactic supplementation with calcium and vitamin D should be advised.

Evaluation of the subjective efficacy of nasal surgery.

This study aimed to evaluate subjective symptom changes in obstructive sleep apnoea hypopnea syndrome patients following nasal surgery, and to explore treatment efficacy in improving patient quality of life. Patients with nasal blockage accompanied by habitual snoring were stratified into four groups. Their subjective symptoms were evaluated before and after nasal surgery. There was a significant decrease in the nasal blockage symptom visual analogue scale, Epworth Sleepiness Scale, Snore Outcomes Survey, Spouse/Bed Partners Survey and Sino-Nasal Outcome Test 20 scores for all patients at six months after surgery. The visual analogue scale score for subjective olfactory function was significantly improved in the severe obstructive sleep apnoea hypopnea syndrome patient group. Nasal surgery can effectively improve the subjective symptoms of patients with simple snoring accompanied by nasal blockage and of patients with obstructive sleep apnoea hypopnea syndrome, thus improving their quality of life.

Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD

Estrogen replacement therapy in Turner syndrome should theoretically mimic the physiology of healthy girls. The objective of this study was to describe final height and bone mineral density (BMD) in a group of 17 Turner syndrome patients (group E) who started their ethinyl estradiol therapy with an ultra-low dosage (1-5 ng/kg/day) from 9.8-13.7 years. The subjects in group E had been treated with GH 0.35 mg/kg/week since the average age of 7.4 years. The 30 subjects in group L, one of the historical groups, were given comparable doses of GH, and conjugated estrogen 0.3125 mg/week ∼0.3125 mg/day was initiated at 12.2-18.7 years. The subjects in group S, the other historical group, were 21 patients who experienced breast development and menarche spontaneously. Final height (height gain < 2 cm/year) in group E was 152.4 ± 3.4 cm and the standard deviation (SD) was 2.02 ± 0.62 for Turner syndrome. The final height in group L was 148.5 ± 3.0 cm with a SD of 1.30 ± 0.55, which was significantly different from the values for group E. The volumetric BMD of group S (0.290 ± 0.026 g/cm3) was significantly different from that of group L or E (0.262 or 0.262 g/cm3 as a mean, respectively). This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. Our estrogen therapy in group E produced good final height but not ideal BMD.

Investigation of the relationship between neutrophil-to-lymphocyte ratio and obstructive sleep apnoea syndrome.

To investigate the neutrophil-to-lymphocyte ratio and sleep apnoea severity relationship. Patients (n = 178) were assigned to five groups according to apnoea-hypopnea indices and continuous positive airway pressure use. White blood cell, neutrophil, lymphocyte and neutrophil-to-lymphocyte ratio values were compared for each group. The neutrophil-to-lymphocyte ratio values of severe obstructive sleep apnoea syndrome patients (group 4) were significantly higher than those of: control patients (group 1), mild obstructive sleep apnoea syndrome patients (group 2) and patients treated with continuous positive airway pressure (group 5) (p = 0.008, p = 0.008 and p = 0.003). Minimum oxygen saturation values of group 4 were significantly lower than those of groups 1, 2 and 5 (p = 0.0005, p = 0.011 and p = 0.001). There was a positive correlation between apnoea-hypopnea index and neutrophil-to-lymphocyte ratio (r = 0.758, p = 0.034), and a negative correlation between apnoea-hypopnea index and minimum oxygen saturation (r = -0.179, p = 0.012). Neutrophil-to-lymphocyte ratio may be used to determine disease severity, complementing polysomnography.

Rs2043211 polymorphism in CARD8 is not associated with Tourette syndrome in a family-based association study in the Chinese Han population.

Previous studies showed that postinfectious autoimmunity and immune deficiency played an important role in the pathogenesis of Tourette syndrome. CARD8 can suppress activity of NF-ΚB activated by inflammatory mediators. To study the association between the rs2043211 polymorphism in CARD8 and susceptibility to Tourette syndrome in Chinese Han population. We recruited 279 patients diagnosed with Tourette syndrome and their parents for the study. Genotyping for CARD8 rs2043211 single-nucleotide polymorphism was performed using predesigned TaqMan single-nucleotide polymorphism genotyping assay. The genetic contribution of this single-nucleotide polymorphism was evaluated using transmission disequilibrium test and haplotype relative risk and the haplotype-based haplotype relative risk. The results of the allelic and genotypic distribution of rs2043211 polymorphism in CARD8 showed that both the Tourette syndrome patients group and the parents group are in Hardy-Weinberg equilibrium. No significant differences were observed in the mutant allele transmission (transmission disequilibrium test = 1.107, df = 1, p = 0.322). Results of haplotype relative risk analysis showed that no statistical significant difference was found in the genotypic frequency (AA/AT/TT) of Tourette syndrome patients passed from parents (haplotype relative risk = 1.152, χ(2 )= 0.494, p = 0.482, 95% CI = 0.777-1.708). Similarly, the analysis of haplotype-based haplotype relative risk was also not to support a statistically significant association in allelic frequency (A/T) of Tourette syndrome patients passed from parents (haplotype-based haplotype relative risk = 1.130, χ(2 )= 1.037, p = 0.308, 95% CI = 0.893-1.429). Our results suggest CARD8 might not play a role in the pathogenesis of Tourette syndrome in Chinese Han population. However, the results still need to be tested in a larger sample and different populations.

Association analysis of SNP-63 and indel-19 variant in the calpain-10 gene with polycystic ovary syndrome in women of reproductive age1

Abstract Background Polycystic ovary syndrome is a complex and heterogeneous disease leading to reproductive, as well as metabolic problems. It has been suggested that there may be a genetic predisposition in the aetiology of polycystic ovary syndrome. The identification of calpain 10 gene (CAPN10) as the first candidate gene for type 2 diabetes mellitus has focused the interest in investigating their possible connection with the polycystic ovary syndrome. This syndrome is associated with hyperinsulinaemia and insulin resistance, two metabolic abnormalities associated with type 2 diabetes mellitus. Objective To investigate if there is association between the SNP-63 and the genetic variant indel-19 of CAPN10 gene and polycystic ovary syndrome in women of reproductive age. Material and methods This study included 101 women (55 with polycystic ovary syndrome and 46 without polycystic ovary syndrome). The genetic variant indel-19 was identified by electrophoresis of the amplified fragments by PCR, and the SNP-63 by PCR-RFLP. Results The allele and genotype frequencies of the two variants do not differ significantly between women with polycystic ovary syndrome and the control women group. The haplotype 21 (defined by the insertion allele of indel-19 variant and C allele of SNP-63) was found with higher frequency in both study groups, being more frequent in the polycystic ovary syndrome patients group, however, this difference was not statistically significant. Conclusions The results suggest that SNP-63 and indel-19 variant of CAPN10 gene do not represent a risk factor for polycystic ovary syndrome in our patient group.

Análisis de asociación del SNP-63 y la variante indel-19 del gen de calpaína-10 con síndrome de ovario poliquístico en mujeres en edad reproductiva

BackgroundPolycystic ovary syndrome is a complex and heterogeneous disease leading to reproductive, as well as metabolic problems. It has been suggested that there may be a genetic predisposition in the aetiology of polycystic ovary syndrome. The identification of calpain 10 gene (CAPN10) as the first candidate gene for type 2 diabetes mellitus has focused the interest in investigating their possible connection with the polycystic ovary syndrome. This syndrome is associated with hyperinsulinaemia and insulin resistance, two metabolic abnormalities associated with type 2 diabetes mellitus. ObjectiveTo investigate if there is association between the SNP-63 and the genetic variant indel-19 of CAPN10 gene and polycystic ovary syndrome in women of reproductive age. Material and methodsThis study included 101 women (55 with polycystic ovary syndrome and 46 without polycystic ovary syndrome). The genetic variant indel-19 was identified by electrophoresis of the amplified fragments by PCR, and the SNP-63 by PCR-RFLP. ResultsThe allele and genotype frequencies of the two variants do not differ significantly between women with polycystic ovary syndrome and the control women group. The haplotype 21 (defined by the insertion allele of indel-19 variant and C allele of SNP-63) was found with higher frequency in both study groups, being more frequent in the polycystic ovary syndrome patients group, however, this difference was not statistically significant. ConclusionsThe results suggest that SNP-63 and indel-19 variant of CAPN10 gene do not represent a risk factor for polycystic ovary syndrome in our patient group.

Low Prevalence of Metabolic Syndrome in a Group of Patients with Chronic Psychotic Disorders Taking Antipsychotic Polypharmacy in Residential Treatment While Adhering to a Mediterranean Diet

The aim of this abbreviated report is to describe the prevalence of the Metabolic Syndrome (MS) in a sample group of patients with psychosis in residential treatment in Spain, who have been treated with antipsychotic polypharmacy for 5 years or more. We designed a cross sectional study to describe the prevalence of MS in a population sample of 21 of such patients. Using the criteria recommended by the Third Report of the National Cholesterol Education program Expert panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (NCP-ATP III), In this group 19, 04% of these patients met such criteria. The prevalence is much smaller than those reported in other countries, especially the U.S. This is even more remarkable, given the use of antipsychotic polypharmacy in this sample group of patients, which is an additional risk factor for the development of M.S. Residential treatment (a controlled living environment), Short Communication Forcen et al; JSRR, Article no. JSRR.2014.12.01

Metabolic syndrome and systemic inflammation in patients with chronic obstructive pulmonary disease

BackgroundMetabolic syndrome is a group of metabolic conditions that occur together representing a combination of cardiovascular risk determinants such as obesity, insulin resistance and lipid abnormalities such as hypertriglyceridemia, increased free fatty acids, low high-density-cholesterol and hypertension. Interleukin-6 (IL-6), is a 20.5kDa protein that induces the expression of acute phase proteins and it is secreted by many different cell types. Aim of this workTo study the incidence of metabolic syndrome in COPD patients and to evaluate the role of IL 6 as a potent inflammatory marker in COPD patients with or without metabolic syndrome. Patients and methodsIL 6 levels were assayed in 50 patients diagnosed as having COPD with or without metabolic syndrome (patient group) as well as in 35 age and sex matched apparently healthy non smoker volunteers with no history of chronic chest troubles (control group) using the enzyme linked immunosorbent assay (ELISA) technique. ResultsIt was found that there were statistically significant differences between the two groups regarding the incidence of metabolic syndrome (P value=0.0438). There was highly statistically significant difference between the two groups regarding the serum IL 6 level (P value <0.0001). ConclusionIn conclusion, our findings suggest that the features of the metabolic syndrome may be frequent in patients with COPD than in the general population, so it is recommended to screen all the COPD patients for associated metabolic syndrome as well as elevated levels of inflammatory mediators including IL 6.