Neutrophil Cytosolic Factor-1 Genotyping in Acne Vulgaris

2021 ◽  
pp. 1-6
Author(s):  
Ola Bakry ◽  
Mohamed Shoeib ◽  
Shimaa Soliman ◽  
Lamiaa Kamal
Keyword(s):  
Copy Number ◽  
Disease Duration ◽  
Disease Risk ◽  
Acne Vulgaris ◽  
Control Group ◽  
Ros Production ◽  
Predisposing Factor ◽  
Inflammatory Dermatosis ◽  
Gene Copies ◽  
Cytosolic Factor

Acne vulgaris (AV) is a very common inflammatory dermatosis. It has a complex pathogenesis in which oxidative stress plays an important role. Neutrophil cytosolic factor (NCF)-1 gene encodes for NCF1 protein which shares in reactive oxygen species (ROS) production. Copy number variation (CNV) is a type of genetic variance in which gene copies are duplicated or deleted. The current work aimed to detect the association between NCF1 CNV and NCF-1 genotypes and AV to explore their possible role in increased disease risk or influencing its clinical presentation. Twenty-five cases with AV and 25 age- and gender-matched healthy volunteers were selected. NCF1 CNV and genotypes were determined using quantitative real-time polymerase chain reaction. NCF1 copy number was significantly increased in patients compared to the control group (p = 0.02). Higher copy number increased the risk of occurrence of AV by about 4-fold. The NCF1 genotype was more prevalent in patients (72%) compared to NCF1B (24%) and NCF1C (4%) variants, while NCF1B and NCF1C variants (68%) were more prevalent in the control group. The NCF1B genotype decreased the risk of occurrence of AV by 0.2-fold. NCF1 was significantly associated with cases more than controls (p = 0.005). It increased the risk of occurrence of acne by 5.4-fold. There was significant association between NCF1 copy number and disease duration where higher number was associated with long disease duration (p = 0.03). Higher copy number was also associated with the NCF1 genotype (p = 0.01). This study suggests that increased copy number of NCF1 gene may be a predisposing factor for AV development. However, the presence of NCF1B and NCF1C variants lowers ROS production and subsequently decreases the risk of development of AV.

Understanding Schizophrenia: Genetic Causes and Treatment

2019 ◽  
Vol 1 (1) ◽  
pp. 6-12
Author(s):  
Fatima Javeria ◽  
Shazma Altaf ◽  
Alishah Zair ◽  
Rana Khalid Iqbal
Keyword(s):  
Copy Number ◽  
Drug Targets ◽  
Disease Risk ◽  
Mental Disease ◽  
Copy Number Variants ◽  
Aminobutyric Acid ◽  
Epigenetic Mechanisms ◽  
Gamma Aminobutyric Acid ◽  
Wide Range ◽  
Severe Mental Disease

Schizophrenia is a severe mental disease. The word schizophrenia literally means split mind. There are three major categories of symptoms which include positive, negative and cognitive symptoms. The disease is characterized by symptoms of hallucination, delusions, disorganized thinking and speech. Schizophrenia is related to many other mental and psychological problems like suicide, depression, hallucinations. Including these, it is also a problem for the patient’s family and the caregiver. There is no clear reason for the disease, but with the advances in molecular genetics; certain epigenetic mechanisms are involved in the pathophysiology of the disease. Epigenetic mechanisms that are mainly involved are the DNA methylation, copy number variants. With the advent of GWAS, a wide range of SNPs is found linked with the etiology of schizophrenia. These SNPs serve as ‘hubs’; because these all are integrating with each other in causing of schizophrenia risk. Until recently, there is no treatment available to cure the disease; but anti-psychotics can reduce the disease risk by minimizing its symptoms. Dopamine, serotonin, gamma-aminobutyric acid, are the neurotransmitters which serve as drug targets in the treatment of schizophrenia. Due to the involvement of genetic and epigenetic mechanisms, drugs available are already targeting certain genes involved in the etiology of the disease.

Risk of Depression in Adolescents and Young Adults with Rheumatic Diseases

2020 ◽  
Vol 62 (1) ◽  
pp. 38-42
Author(s):  
Anna Kostiukow ◽  
Wojciech Strzelecki ◽  
Mateusz W. Romanowski ◽  
Marta Rosołek ◽  
Ewa Mojs ◽  
...  
Keyword(s):  
Young Adults ◽  
Young People ◽  
Rheumatic Diseases ◽  
Disease Risk ◽  
Statistical Significance ◽  
Energy Levels ◽  
Young Patients ◽  
Depression Scale ◽  
Adolescents And Young Adults ◽  
Control Group

Introduction: The study is aimed at drawing the attention of the medical environment to the mental health aspects of young patients as a factor that significantly influences the efficiency of their rheumatic disease treatment. Aim: This paper is to check the risk of depression among a group of adolescents and young adults with rheumatic diseases. Material and Methods: The study was conducted among a group of 68 late adolescents and young adults (18-22 years old) with rheumatic diseases. The control group consisted of 102 young people (18-22 years old) without a diagnosed chronic disease. Risk of depression was measured using a screening tool – the Kutcher Adolescent Depression Scale (KADS). Results: The analysis showed that the probability of depression in the study group was 35.3%. In the control group, this rate was 19.6%. The results were statistical significance (p=0.028). Conclusions: The results of this study prove that the risk of depression among adolescents and young adults with rheumatic diseases is significantly higher than in healthy young people. The highest risk of depression is related to feeling tired, fatigue, low energy levels and lack of motivation as well as feeling worried, nervous, panicky, tense, keyed-up and anxious.

Alteration of intrapancreatic serotonin, homocysteine, TNF-α, and NGF levels as predisposing factors for diabetes following exposure to 900-MHz waves

2021 ◽  
pp. 074823372110226
Author(s):  
Gholamali Jelodar ◽  
Mansour Azimzadeh ◽  
Fatemeh Radmard ◽  
Narges Darvishhoo
Keyword(s):  
Cell Damage ◽  
Pancreatic Beta Cell ◽  
Predisposing Factors ◽  
Male Rats ◽  
Control Group ◽  
Predisposing Factor ◽  
Time Exposure ◽  
Tnf Α ◽  
Long Time ◽  
Short Time

Exposure to mobile phone radiation causes deleterious health effects on biological systems. The objects of this study were to investigate the effect of 900-MHz radiofrequency waves (RFW) emitted from base transceiver station antenna on intrapancreatic homocysteine (Hcy), tumor necrosis factor-α (TNF-α), and nerve growth factor (NGF) as predisposing factors involved in pancreatic beta cell damage. Thirty male rats (Sprague-Dawley, 200 ± 10 g) were randomly divided into the control (without any exposure) and exposed groups: short time (2 h/day), long time (4 h/day), and exposed to 900-MHz RFW for 30 consecutive days. On the last days of the experiment, animals were killed and pancreas tissue was dissected out for evaluation of serotonin, Hcy, TNF-α, and NGF. There was a significant decrease in the serotonin and NGF levels in the pancreatic tissue of exposed groups compared to the control group ( p < 0.05). Also, the levels of serotonin and NGF in the long-time exposure were significantly lower than the short-time exposure ( p < 0.05). However, levels of Hcy and TNF-α were significantly increased in the pancreas of exposed groups compared to the control groups ( p < 0.05). Exposure to 900-MHz RFW decreased pancreatic NGF and serotonin levels and increased the proinflammatory markers (Hcy and TNF-α), which can be a predisposing factor for type 2 diabetes.

scholarly journals Investigation of TAGAP gene polymorphism (rs1738074) in Turkish pediatric celiac patients

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  
Keyword(s):  
Pediatric Patients ◽  
Disease Risk ◽  
Polymerase Chain Reaction Method ◽  
Control Group ◽  
Healthy Children ◽  
Single Nucleotide ◽  
Significant Difference ◽  
Allele Specific ◽  
And Control

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.

scholarly journals From Benign Inflammatory Dermatosis to Cutaneous Lymphoma. DNA Copy Number Imbalances in Mycosis Fungoides versus Large Plaque Parapsoriasis

Medicina ◽  
2021 ◽  
Vol 57 (5) ◽  
pp. 502
Author(s):  
Georgiana Gug ◽  
Caius Solovan
Keyword(s):  
Mycosis Fungoides ◽  
Copy Number ◽  
Snp Array ◽  
Chromosome 1 ◽  
Copy Number Alterations ◽  
Dna Copy Number ◽  
Large Plaque ◽  
Inflammatory Dermatosis ◽  
Fresh Frozen ◽  
Dna Copy Number Alterations

Background and Objectives: Mycosis fungoides (MF) and large plaque parapsoriasis (LPP) evolution provide intriguing data and are the cause of numerous debates. The diagnosis of MF and LPP is associated with confusion and imprecise definition. Copy number alterations (CNAs) may play an essential role in the genesis of cancer out of genes expression dysregulation. Objectives: Due to the heterogeneity of MF and LPP and the scarcity of the cases, there are an exceedingly small number of studies that have identified molecular changes in these pathologies. We aim to identify and compare DNA copy number alterations and gene expression changes between MF and LPP to highlight the similarities and the differences between these pathologies. Materials and Methods: The patients were prospectively selected from University Clinic of Dermatology and Venereology Timișoara, Romania. From fresh frozen skin biopsies, we extracted DNA using single nucleotide polymorphism (SNP) data. The use of SNP array for copy number profiling is a promising approach for genome-wide analysis. Results: After reviewing each group, we observed that the histograms generated for chromosome 1–22 were remarkably similar and had a lot of CNAs in common, but also significant differences were seen. Conclusions: This study took a step forward in finding out the differences and similarities between MF and LPP, for a more specific and implicitly correct approach of the case. The similarity between these two pathologies in terms of CNAs is striking, emphasizing once again the difficulty of approaching and differentiating them.

scholarly journals Cardiovascular Disease Risk in Bears and Other Gay Men: A Descriptive Study from Poland

2021 ◽  
Vol 18 (3) ◽  
pp. 1044
Author(s):  
Magdalena Mijas ◽  
Karolina Koziara ◽  
Andrzej Galbarczyk ◽  
Grazyna Jasienska
Keyword(s):  
Risk Factors ◽  
Cardiovascular Disease ◽  
Gay Men ◽  
Disease Risk ◽  
Older Age ◽  
Analysis Of Covariance ◽  
Control Group ◽  
Cvd Risk Factors ◽  
Cvd Risk ◽  
Wide Range

A risk of cardiovascular disease (CVD) is increased by multiple factors including psychosocial stress and health behaviors. Sexual minority men who identify as Bears form a subculture distinguished by characteristics associated with increased CVD risk such as elevated stress and high body weight. However, none of the previous studies comprehensively investigated CVD risk in this population. Our study compared Bears (N = 31) with other gay men (N = 105) across a wide range of CVD risk factors. Logistic regression and analysis of covariance (ANCOVA) models were performed to compare both groups concerning behavioral (e.g., physical activity), medical (e.g., self-reported hypertension), and psychosocial (e.g., depressiveness) CVD risk factors. Bears were characterized by older age and higher body mass index (BMI) than the control group. We also observed higher resilience, self-esteem, as well as greater prevalence of self-reported hypertension, diabetes, and hypercholesterolemia in Bears. None of these differences remained statistically significant after adjusting for age and, in the case of self-reported diagnosis of diabetes, both age and BMI. Our study demonstrates that Bears are characterized by increased CVD risk associated predominantly with older age and higher BMI. Health promotion interventions addressed to this community should be tailored to Bears’ subcultural norms and should encourage a healthier lifestyle instead of weight loss.

scholarly journals A Cohort Study Risk Factor Analysis for Endemic Disease in Pre-Weaned Dairy Heifer Calves

Animals ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 378
Author(s):  
Kate F. Johnson ◽  
Natalie Chancellor ◽  
D. Claire Wathes
Keyword(s):  
Cohort Study ◽  
Disease Duration ◽  
Disease Risk ◽  
Passive Transfer ◽  
Marginal Benefit ◽  
Higher Temperature ◽  
Dairy Heifer ◽  
Milk Solids ◽  
Poor Welfare ◽  
Preweaning Period

Dairy heifer calves experience high levels of contagious disease during their preweaning period, which may result in poor welfare, reduced performance or mortality. We determined risk factors for disease in a cohort study of 492 heifers recruited from 11 commercial UK dairy farms. Every animal received a weekly examination by a veterinarian from birth to nine weeks using the Wisconsin scoring system. Multivariable models were constructed using a hierarchical model with calf nested within farm. Outcome variables for each disease included a binary outcome (yes/no), disease duration and a composite disease score (CDS) including both severity and duration. Diarrhoea, bovine respiratory disease (BRD) and umbilical disease were recorded in 48.2%, 45.9% and 28.7% of calves, respectively. A higher heifer calving intensity in the week of birth reduced the CDS for diarrhoea, with a marginal benefit of improved passive transfer (serum immunoglobulin G (IgG) measured at recruitment). The CDS for BRD was reduced by housing in fixed groups, higher mean temperature in month of birth, increasing milk solids fed, increasing IgG, and higher plasma IGF-1 at recruitment. Conversely, higher calving intensity and higher temperature both increased the CDS for umbilical disease, whereas high IGF-1 was again protective. Although good passive transfer reduced the severity of BRD, it was not significant in models for diarrhoea and umbilical disease, emphasising the need to optimise other aspects of management. Measuring IGF-1 in the first week was a useful additional indicator for disease risk.

Effect of Type 2 Diabetes Mellitus and diabetic medication on Pulmonary Function

2021 ◽  
Vol 17 ◽  
Author(s):  
Alaa M. Hammad ◽  
Waleed Qirim ◽  
Ameen Alassi ◽  
Dana Hyassat
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Type 2 Diabetes Mellitus ◽  
Glycemic Control ◽  
Pulmonary Function ◽  
Disease Duration ◽  
Linear Regression Analysis ◽  
Forced Expiratory Volume ◽  
Control Group

Background: Type 2 diabetes mellitus (T2DM) is a chronic condition with an impairing effect on multiple organs. Numerous respiratory disorders have been observed in patients with T2DM. However, T2DM e ect on pulmonary function is ff inconclusive. Aims: In this study, we investigated the effect of T2DM on respiratory function and the correlation of glycemic control, diabetes duration and insulin intake. Methods: 1500 patients were recruited for this study, 560 having T2DM for at least a year were included in the final data, in addition to 540 healthy volunteers. Forced expiratory volume in one second (FEV1), forced vital capacity (FVC), forced expiratory flow at 25-75% (FEF 25-75%), as well as FEV1/FVC ratio values were measured. Results: A two-sample t-test showed that z-scores produced by Al-Qerem et al.’s equations for FEV1, FVC, and FEF 25-75% were significantly lower for the T2DM group than the control group (p < 0.01). FEV1/FVC ratio in T2DM group were significantly higher (p < 0.01). Multiple linear regression analysis found that glycemic control represented by HbA1c as well as disease duration were negatively associated with pulmonary function (p < 0.01). However, insulin intake was found to have no significant correlation with the pulmonary function. Conclusion: T2DM was linked to reduced pulmonary function and was consistent with a restrictive ventilation pattern. HbA1c as well as disease duration were independent risk factors for reduced pulmonary function.

The use of heart rate turbulence and heart rate variability in the assessment of autonomic regulation and circadian rhythm in patients with systemic lupus erythematosus without apparent heart disease

Lupus ◽  
2017 ◽  
Vol 27 (3) ◽  
pp. 436-444 ◽  
Author(s):  
A R Poliwczak ◽  
E Waszczykowska ◽  
B Dziankowska-Bartkowiak ◽  
M Koziróg ◽  
K Dworniak
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Heart Rate ◽  
Heart Rate Variability ◽  
Lupus Erythematosus ◽  
High Frequency ◽  
Autonomic Function ◽  
Disease Duration ◽  
Control Group ◽  
Systemic Lupus ◽  
Heart Rate Turbulence

Background Systemic lupus erythematosus is a progressive autoimmune disease. There are reports suggesting that patients even without overt signs of cardiovascular complications have impaired autonomic function. The aim of this study was to assess autonomic function using heart rate turbulence and heart rate variability parameters indicated in 24-hour ECG Holter monitoring. Methods Twenty-six women with systemic lupus erythematosus and 30 healthy women were included. Twenty-four hour ambulatory ECG-Holter was performed in home conditions. The basic parameters of heart rate turbulence and heart rate variability were calculated. The analyses were performed for the entire day and separately for daytime activity and night time rest. Results There were no statistically significant differences in the basic anthropometric parameters. The mean duration of disease was 11.52 ± 7.42. There was a statistically significant higher turbulence onset (To) value in patients with systemic lupus erythematosus, median To = –0.17% (minimum –1.47, maximum 3.0) versus To = –1.36% (minimum –4.53, maximum –0.41), P < 0.001. There were no such differences for turbulence slope (Ts). In the 24-hour analysis almost all heart rate variability parameters were significantly lower in the systemic lupus erythematosus group than in the healthy controls, including SDANN and r-MSSD and p50NN. Concerning the morning activity and night resting periods, the results were similar as for the whole day. In the control group, higher values in morning activity were noted for parameters that characterise sympathetic activity, especially SDANN, and were significantly lower for parasympathetic parameters, including r-MSSD and p50NN, which prevailed at night. There were no statistically significant changes for systemic lupus erythematosus patients for p50NN and low and very low frequency. There was a positive correlation between disease duration and SDNN, R = 0.417; P < 0.05 and SDANN, R = 0.464; P < 0.05, a negative correlation between low/high frequency ratio and r-MSSD, R = –0.454; P < 0.05; p50NN, R = –0.435; P < 0.05 and high frequency, R = –0.478; P < 0.05. In contrast, there was no statistically significant correlation between heart rate turbulence and other variables evaluated, including disease duration and the type of autoantibodies. Conclusion: Our study confirms the presence of autonomic disorders with respect to both heart rate variability and heart rate turbulence parameters and the presence of diurnal disturbances of sympathetic–parasympathetic balance. Further studies are required.

scholarly journals Inhibition ofα-Glucosidase by Thiosulfinate as a Target for Glucose Modulation in Diabetic Rats

2016 ◽  
Vol 2016 ◽  
pp. 1-5 ◽  
Author(s):  
Abdulrahman L. Al-Malki
Keyword(s):  
Body Weight ◽  
Blood Glucose ◽  
Hydrolytic Enzyme ◽  
Positive Control ◽  
Diabetic Rats ◽  
Postprandial Hyperglycemia ◽  
Postprandial Blood Glucose ◽  
Control Group ◽  
Albino Rats ◽  
Predisposing Factor

Postprandial hyperglycemia is a predisposing factor for vascular dysfunction and organ damage.α-glucosidase is a hydrolytic enzyme that increases the glucose absorption rate and subsequently elevates blood glucose levels. Garlic (Allium sativumL.) is a rich source of several phytonutrients, including thiosulfinate (THIO). The aim of this study was to evaluate the ability of THIO, a potent inhibitor of intestinalα-glucosidase, to reduce postprandial blood glucose. Male albino rats were randomly assigned to five different groups (n=10/group). Group 1 served as the control group. Groups 2–5 were injected intraperitoneally with a single dose of streptozotocin (STZ) to induce diabetes. Group 2 comprised untreated diabetic rats. Groups 3 and 4 contained diabetic rats that were given THIO orally (20 mg/kg body weight/day and 40 mg/kg body weight/day, resp.). Group 5 was the positive control having diabetic rats treated orally with acarbose (10 mg/kg body weight/day; positive control). Diabetic rats treated with THIO displayed a significant blood glucose reduction (p<0.001and < 0.01 by analysis of variance, resp.) and a significant elevation in insulin compared with that of untreated rats. THIO is an effective noncompetitive intestinalα-glucosidase inhibitor that promotes hypoglycemic action (p<0.001) in STZ-injected rats. THIO is a promising agent for the management of postprandial hyperglycemia.

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