scholarly journals Understanding the genetic determinant of severity in viral diseases: a case of SARS-Cov-2 infection

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Babayemi Olawale Oladejo ◽  
Covenant Femi Adeboboye ◽  
Tinuola Tokunbo Adebolu
Keyword(s):  
Genetic Factors ◽  
Viral Infections ◽  
Genetic Diagnosis ◽  
Young Patients ◽  
Disease Genes ◽  
Main Body ◽  
Severe Condition ◽  
Increased Risk ◽  
Co Morbidity ◽  
Wide Range

Abstract Background Numerous research studies have identified specific human gene variants that affect enhanced susceptibility to viral infections. More recently is the current pandemic where the SARS-CoV-2 infection has shown a high degree of person-to-person clinical variability. A wide range of disease severity occurs in the patients’ experiences, from asymptomatic cases, mild infections to serious life threatening conditions requiring admission into the intensive care unit (ICU). Main body of the abstract Although, it is generally reported that age and co-morbidities contribute significantly to the variations in the clinical outcome of the scourge of COVID-19, a hypothetical question of the possibility of genetic involvement in the susceptibility and severity of the disease arose when some unique severe outcomes were seen among young patients with no co-morbidity. The role human genetics play in clinical response to the viral infections is scarcely understood; however, several ongoing researches all around the world are currently focusing on possible genetic factors. This review reports the possible genetic factors that have been widely studied in defining the severity of viral infections using SARS-CoV-2 as a case study. These involve the possible involvements of ACE2, HLA, and TLR genes such as TLR7 and TLR3 in the presentation of a more severe condition. Short conclusion Understanding these variations could help to inform efforts to identify people at increased risk of infection outbreaks through genetic diagnosis of infections by locating disease genes or mutations that predispose patients to severe infection. This will also suggest specific targets for therapy and prophylaxis.

The helps toolkit - a tool to promote the physical health of residents in psychiatric facilities across Europe

2011 ◽  
Vol 26 (S2) ◽  
pp. 587-587
Author(s):  
P. Weiser ◽  
T. Becker ◽  
R. Kilian
Keyword(s):  
Mental Health ◽  
Health Care ◽  
Mental Health Care ◽  
Physical Health ◽  
Health Care Facilities ◽  
Medical Care System ◽  
Increased Risk ◽  
Co Morbidity ◽  
Wide Range ◽  
Care Facilities

IntroductionPeople with a mental disorder are at increased risk for physical illness and therefore their risk of premature death is raised. An unhealthy lifestyle, living conditions, medication side-effects and a lack of physical health monitoring are regarded as the main causes of high somatic morbidity. But up to now only little research has addressed the physical co-morbidity in mentally ill. At present, there are no specific policies to improve the health status of residents in mental health care facilities.Objectives / methodsAgainst this background a multi-disciplinary network of experts from 15 European countries was set up. Working together with researchers, stakeholders, professionals, networks, practitioners, and relevant organizations, the HELPS network developed a “physical health promotion toolkit” for routine application in a wide range of mental health care facilities across Europe. The HELPS toolkit intends to empower patients and staff to identify the most relevant risk factors in their specific context and subsequently select the most appropriate action out of a range of defined health promoting interventions. In doing so, the toolkit takes into account the heterogeneity of mental disorders, the high number of somatic problems, aspects of lifestyle, environment, medical care system, personal goals of patients and their motivation for health behavior.Results / conclusionsThe poster presents the HELPS toolkit. It illustrates the individual components of the tool and the processes of its implementation and evaluation. First results of the pilot study concerning the feasibility of the toolkit will be presented and discussed.

scholarly journals Genetic factors and cancer: diagnosis, prognosis and future perspectives

2021 ◽  
Vol 11 (3) ◽  
pp. 1-2
Author(s):  
Fernando Russo Costa do Bomfim
Keyword(s):  
Genetic Factors ◽  
Environmental Changes ◽  
Genetic Diseases ◽  
Genetic Modifications ◽  
Increased Risk ◽  
Wide Range ◽  
Different Types ◽  
Genetic Mechanisms ◽  
External Causes ◽  
And Behavior

Genetics is specifically responsible for several pathologies or, at the least, it is associated with a wide range of them, either as a primary causal agent (congenital genetic diseases) or secondary, being a factor within several possible for a given disease. One of the most critical genetic concepts is developed from the phenotype, equivalent to the genotype associated with the environment. In other words, for a condition to manifest itself, cancer, for example, we need a genetic alteration within the environment, which somehow influences carcinogenesis from stochastic or induced interactions. Cancer cases are approximately 80% and 90% associated with external causes, and environmental changes are mainly motivated by human actions, habits, and behavior, leading to an increased risk of different types of cancer. These changes lead to the formation of a cycle since man promotes environmental changes, leading to genetic modifications responsible for 10-20% of cancer formation. Although the percentage seems not to be significant, we have, in fact, several genetic mechanisms that will lead to the emergence of the most diverse types of cancer, including polymorphisms, mutations, oxidative stress, oncogenes, and genes that regulate the cell cycle, including apoptosis.

scholarly journals The Link between Cannabis Use, Immune System, and Viral Infections

Viruses ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1099
Author(s):  
Sanjay B. Maggirwar ◽  
Jag H. Khalsa
Keyword(s):  
Immune Function ◽  
Viral Infections ◽  
Immune Dysfunction ◽  
Cannabis Use ◽  
Human Immune Deficiency Virus ◽  
Type I ◽  
Long Term Effects ◽  
Human T Cell ◽  
Increased Risk ◽  
Wide Range

Cannabis continues to be the most used drug in the world today. Research shows that cannabis use is associated with a wide range of adverse health consequences that may involve almost every physiological and biochemical system including respiratory/pulmonary complications such as chronic cough and emphysema, impairment of immune function, and increased risk of acquiring or transmitting viral infections such as HIV, HCV, and others. The review of published research shows that cannabis use may impair immune function in many instances and thereby exerts an impact on viral infections including human immune deficiency virus (HIV), hepatitis C infection (HCV), and human T-cell lymphotropic type I and II virus (HTLV-I/II). The need for more research is also highlighted in the areas of long-term effects of cannabis use on pulmonary/respiratory diseases, immune dysfunction and the risk of infection transmission, and the molecular/genetic basis of immune dysfunction in chronic cannabis users.

Exome Sequencing Identifies a Novel DES Mutation (R227C) in a Chinese Dilated Cardiomyopathy Family

Cardiology ◽  
2017 ◽  
Vol 137 (2) ◽  
pp. 78-82 ◽  
Author(s):  
Rong Yu ◽  
Lv Liu ◽  
Chan Chen ◽  
Jin-Mei Shen
Keyword(s):  
Dilated Cardiomyopathy ◽  
Exome Sequencing ◽  
Genetic Factors ◽  
Novel Mutation ◽  
Genetic Diagnosis ◽  
Chinese Family ◽  
Common Disease ◽  
Disease Genes ◽  
Whole Exome ◽  
Gene Filtering

Objectives: Dilated cardiomyopathy (DCM) is a common disease in the clinic, and it is the leading cause of heart failure and sudden cardiac death. Previous studies have proven that genetic factors play a crucial role in the occurrence of DCM; more than 50 disease genes including desmin (DES) have been identified to be associated with DCM. At present, most DES mutations are reported in desmin-related myofibrilla myopathy patients, but variants leading to isolated DCM are rarely reported. Methods: We applied whole-exome sequencing and cardiomyopathy-related gene filtering strategies to discover the genetic factors in a Chinese DCM family. Results: A novel mutation (c.679 C>T /p.R227C) in exon 3 of DES was identified and cosegregated with the affected members of a Chinese family with isolated DCM phenotypes (left ventricle and left atrial diameters). Conclusion: This mutation leads to a substitution of arginine by cysteine and it is predicted to be deleterious by bioinformatics programs. Our study not only contributes to the genetic diagnosis and counseling of families with DCM, but it also further proves that DES mutations may lead to isolated DCM and provides a new case for the study of the relationship between DES mutations and DCM.

scholarly journals Association between prenatal exposure to analgesics and risk of schizophrenia

2004 ◽  
Vol 185 (5) ◽  
pp. 366-371 ◽  
Author(s):  
Holger J. Sørensen ◽  
Erik L. Mortensen ◽  
June M. Reinisch ◽  
Sarnoff A. Mednick
Keyword(s):  
Prenatal Exposure ◽  
Viral Infections ◽  
Second Trimester ◽  
Parental History ◽  
Central Register ◽  
Increased Risk ◽  
Wide Range ◽  
History Of ◽  
The Central Nervous System ◽  
Using Data

BackgroundDisturbances in the central nervous system originating during foetal life may increase the risk of schizophrenia.AimsTo illuminate the hypothesis that prenatal exposure to analgesics may affect foetal neurodevelopment, leading to increased risk of schizophrenia in adulthood.MethodUsing data from the Copenhagen Perinatal Cohort and from the Danish Psychiatric Central Register, we studied the relationship between prenatal exposure to analgesics and the risk of schizophrenia. The effect of prenatal exposure was adjusted for parental history of schizophrenia, second-trimester viral infections, concomitant drug treatment during pregnancy, an index of pregnancy complications, parental social status and parental age.ResultsIn a risk set of 7999 individuals, 116 cases of schizophrenia were found (1.5%). Prenatal exposure to analgesics in the second trimester was associated with an elevated risk (adjusted odds ratio 4.75, 95% CI1.9–12.0). Independent of the covariates, the effect remained statistically significant.ConclusionsIndependent of a wide range of possible confounders, a significant association between second-trimester exposure to analgesics and increased risk of schizophrenia was observed.

scholarly journals Monogenic forms of DSD: An update

2021 ◽  
Author(s):  
Kenneth McElreavey ◽  
Anu Bashamboo
Keyword(s):  
Genetic Factors ◽  
Association Studies ◽  
Genetic Diagnosis ◽  
Genetic Association Studies ◽  
Genetic Modifiers ◽  
Genomic Variants ◽  
Sequencing Technologies ◽  
Wide Range ◽  
And Function ◽  
Reproductive Phenotype

DSD encompasses a wide range of pathologies that impact gonad formation, development and function in both 46,XX and 46,XY individuals. The majority of these conditions are considered to be monogenic, although the expression of the phenotype may be influenced by genetic modifiers. Although considered monogenic, establishing the genetic etiology in DSD has been difficult compared to other congenital disorders for a number of reasons including the absence of family cases for classical genetic association studies and the lack of evolutionary conservation of key genetic factors involved in gonad formation. In recent years, the widespread use of genomic sequencing technologies has resulted in multiple genes being identified and proposed as novel monogenic causes of 46,XX and/or 46,XY DSD. In this review, we will focus on the main genomic findings of recent years, which consists of new candidate genes or loci for DSD as well as new reproductive phenotypes associated with genes that are well established to cause DSD. For each gene or loci, we summarise the data that is currently available in favor of or against a role for these genes in DSD or the contribution of genomic variants within well-established genes to a new reproductive phenotype. Based on this analysis we propose a series of recommendations that should aid the interpretation of genomic data and ultimately help to improve the accuracy and yield genetic diagnosis of DSD.

Zinc Depletion Increases Readmission in Older Patients: An Example of Interactions Between Nutrition and Disease

2017 ◽  
Vol 87 (1-2) ◽  
pp. 10-16 ◽  
Author(s):  
Salah Gariballa ◽  
Awad Alessa
Keyword(s):  
Nutritional Status ◽  
Inductively Coupled Plasma ◽  
Older Patients ◽  
Controlled Trial ◽  
Prognostic Indicators ◽  
Hospitalised Patients ◽  
Increased Risk ◽  
Co Morbidity ◽  
The Impact ◽  
Poor Nutrition

Abstract. Background: ill health may lead to poor nutrition and poor nutrition to ill health, so identifying priorities for management still remains a challenge. The aim of this report is to present data on the impact of plasma zinc (Zn) depletion on important health outcomes after adjusting for other poor prognostic indicators in hospitalised patients. Methods: Hospitalised acutely ill older patients who were part of a large randomised controlled trial had their nutritional status assessed using anthropometric, hematological and biochemical data. Plasma Zn concentrations were measured at baseline, 6 weeks and at 6 months using inductively- coupled plasma spectroscopy method. Other clinical outcome measures of health were also measured. Results: A total of 345 patients assessed at baseline, 133 at 6 weeks and 163 at 6 months. At baseline 254 (74%) patients had a plasma Zn concentration below 10.71 μmol/L indicating biochemical depletion. The figures at 6 weeks and 6 months were 86 (65%) and 114 (70%) patients respectively. After adjusting for age, co-morbidity, nutritional status and tissue inflammation measured using CRP, only muscle mass and serum albumin showed significant and independent effects on plasma Zn concentrations. The risk of non-elective readmission in the 6-months follow up period was significantly lower in patients with normal Zn concentrations compared with those diagnosed with Zn depletion (adjusted hazard ratio 0.62 (95% CI: 0.38 to 0.99), p = 0.047. Conclusions: Zn depletion is common and associated with increased risk of readmission in acutely-ill older patients, however, the influence of underlying comorbidity on these results can not excluded.

Role of genetic factors in the development of hypertension in young patients with metabolic syndrome

2020 ◽  
pp. 23-32
Author(s):  
Elena Korneeva ◽  
Mikhail Voevoda ◽  
Sergey Semaev ◽  
Vladimir Maksimov
Keyword(s):  
Metabolic Syndrome ◽  
High Risk ◽  
Arterial Hypertension ◽  
Genetic Factors ◽  
Young Patients ◽  
Integrin Αiibβ3 ◽  
Ace Gene ◽  
The Metabolic Syndrome

Results of the study related to polymorphism of ACE gene (rs1799752)‎, integrin αIIbβ3, and CSK gene (rs1378942) influencing development of arterial hypertension in young patients with metabolic syndrome are presented. Hypertension as a component of the metabolic syndrome was detected in 15.0% of young patients. Prevalence of mutant alleles of the studied genes among the examined patients was quite high, so homozygous DD genotype was found in 21.6%, and mutant D allele of the ACE gene in 47.4%. A high risk of hypertension in patients with MS was detected in carriers of the T allele of the CSK (rs1378942) gene – 54.8%, which was most often observed in a combination of polymorphic ACE and CSK gene loci (p = 0.0053).

Exploring siRNA Umpired Nanogels: A Tale of Barrier Combating Carrier

2020 ◽  
Vol 26 (27) ◽  
pp. 3234-3250
Author(s):  
Sushil K. Kashaw ◽  
Prashant Sahu ◽  
Vaibhav Rajoriya ◽  
Pradeep Jana ◽  
Varsha Kashaw ◽  
...  
Keyword(s):  
Drug Delivery ◽  
Biomedical Engineering ◽  
Viral Infections ◽  
Slow Release ◽  
Molecular Level ◽  
Release Kinetics ◽  
Biologically Active ◽  
Release Process ◽  
Rapid Release ◽  
Wide Range

Potential short interfering RNAs (siRNA) modulating gene expression have emerged as a novel therapeutic arsenal against a wide range of maladies and disorders containing cancer, viral infections, bacterial ailments and metabolic snags at the molecular level. Nanogel, in the current medicinal era, displayed a comprehensive range of significant drug delivery prospects. Biodegradation, swelling and de-swelling tendency, pHsensitive drug release and thermo-sensitivity are some of the renowned associated benefits of nanogel drug delivery system. Global researches have also showed that nanogel system significantly targets and delivers the biomolecules including DNAs, siRNA, protein, peptides and other biologically active molecules. Biomolecules delivery via nanogel system explored a wide range of pharmaceutical, biomedical engineering and agro-medicinal application. The siRNAs and DNAs delivery plays a vivacious role by addressing the hitches allied with chronic and contemporary therapeutic like generic possession and low constancy. They also incite release kinetics approach from slow-release while mingling to rapid release at the targets will be beneficial as interference RNAs delivery carriers. Therefore, in this research, we focused on the latest improvements in the delivery of siRNA loaded nanogels by enhancing the absorption, stability, sensitivity and combating the hindrances in cellular trafficking and release process.

Molecular Evaluation of MicroRNA-146 Gene Variability (rs2910164 C> G) and its Association with Increased Susceptibility to Coronary Artery Disease

MicroRNA ◽  
2020 ◽  
Vol 09 ◽  
Author(s):  
Rashid Mir ◽  
Imadeldin Elfaki ◽  
Chandan k Jha ◽  
Jamsheed Javid ◽  
Suriya Rehman ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Genetic Factors ◽  
Mirna Gene ◽  
Amplification Refractory Mutation System ◽  
Coronary Artery Diseases ◽  
Increased Risk ◽  
Inheritance Model ◽  
Artery Disease ◽  
Increased Susceptibility

Aim: Apart from the modifiable risk factors, genetic factors are believed to also influence the outcome of the coronary artery diseases (CAD). Under the genetic factors, miRNA polymorphisms, namely Hsa-miR-146a-5p (rs2910164) have become an important tool to study the mechanism that underlies the pathogenesis of this disease. Therefore, we investigated the association of miR-146a gene variations with susceptibility of coronary artery diseases. Methodology: This study was conducted on 100 CAD patients and 117 matched healthy individuals. Genotyping of the Hsa-miR-146a-5p C>G gene variation was performed by using amplification refractory mutation system PCR method (ARMS-PCR). Results: The distribution of Hsa-miR-146a-5p rs2910164 C>G genotypes observed between patients and controls was significantly different (P=0.048). Moreover, the frequency of G allele (fG) was found to be significantly higher among patients than in controls (0.36 vs. 0.25). Our findings showed that the Hsa-miR-146a-5p C>G variant was associated with an increased risk of CAD in codominant inheritance model CC vs. CG genotype (OR = 1.84, 95 % CI, 1.02-3.31; p=0.040) and (OR = 3.18, 95 % CI, 1.02-9.9; p=0.045) for CC vs. GG genotype in dominant inheritance model. Whereas the G allele significantly increased the risk of coronary artery disease (OR =1,81, 95 % CI, 1.18-2.78; p=0.006) compared to C allele. Taken together, these results demonstrated that miR-146a/rs2910164 is associated with susceptibility to coronary artery disease, providing novel insights into the genetic etiology and underlying biology of coronary artery disease. Conclusion: Our findings indicated that Hsa-miR-146a-5p rs2910164 GG genotype and G allele are associated with an increased susceptibility to Coronary Artery Disease. A larger sample size can be the key to progress in establishing the genetic co-relation of miRNA gene polymorphisms and cardiovascular diseases.

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