-
The Science of the Total Environment Jun 2024Children's heightened susceptibility to environmental exposure arises from their underdeveloped detoxification mechanisms and augmented per-unit body-weight absorption... (Review)
Review
Children's heightened susceptibility to environmental exposure arises from their underdeveloped detoxification mechanisms and augmented per-unit body-weight absorption capacity for chemical compounds. Primary teeth are an emerging biomatrix, which aid in storing crucial data on early exposure to harmful substances and developmental illnesses. This systematic review aimed to evaluate the association between environmental chemical exposure and health outcomes in children and adolescents using primary teeth as a matrix. The study protocol was registered with PROSPERO (CRD42023428013). The review spanned studies published between 1974 and 2023, identified through an extensive literature search on databases like MEDLINE, EMBASE, LILACS, CINAHL, the Cochrane Oral Health Group Specialized Register, Scopus, and Web of Science. Distiller SR software was used to assess study quality and extract the outcome data. The NTP-OHAT scale assessed evidence quality, and case-control, cross-sectional, and cohort studies in English were included. Comprehensively reviewing 5287 articles resulted in 29 studies being included in the final analysis, comprising 15 cross-sectional, seven case-control, and seven cohort studies. All 29 studies qualified for qualitative analysis. Eleven studies analyzed lead (Pb) effects on health outcomes, four analyzed manganese (Mn), and 14 investigated other element groups. Primary teeth biomatrix assessed various health outcomes: neurobehavior, childhood behaviour, ADHD, birth outcomes, fetal alcohol syndrome disease, inflammatory bowel disease, and dental caries. This study contributes to existing evidence, reinforcing a link between environmental metal exposure and health consequences. The evidence extends to prenatal and postnatal periods, substantiated by primary teeth biomatrix analysis. Lead level fluctuations can influence neuropsychological functioning, potentially causing cognitive impairments. Altered manganese levels correlate with behavioral issues, adverse effects on visuospatial development, and birth weight changes. Primary teeth biomatrices aid fetal alcohol spectrum disorders diagnosis, and correlations between organo-chemical exposure and autism were observed.
Topics: Adolescent; Child; Child, Preschool; Humans; Environmental Exposure; Environmental Pollutants; Tooth, Deciduous; Manganese; Neurodevelopmental Disorders
PubMed: 38554965
DOI: 10.1016/j.scitotenv.2024.172032 -
Semergen Mar 2024The variability in expression and evolution of COVID is not completely explained by clinical factors. In fact, genetic factors play an important role. Moreover, it is...
INTRODUCTION
The variability in expression and evolution of COVID is not completely explained by clinical factors. In fact, genetic factors play an important role. Moreover, it is unknown whether the genetic factor that contribute to susceptibility and severity are also involved in the onset and evolution of long-COVID. The objective of this review is to gather information from literature to understand which genetic factors are involved in the onset of persistent COVID.
MATERIAL AND METHODS
Systematic review in PubMed and bioRxiv and medRxiv repositories based on MeSH-descriptors and MeSH-terms related to COVID and genetic factors. Using these terms 2715 articles were pooled. An initial screening performed by authors independently, selected 205 articles of interest. A final deeper screening a total of 85 articles were chosen for complete reading and summarized in this review.
RESULTS
Although ACE2 and TMPSS6 are involved in COVID susceptibility, their involvement in long-COVID has not been found. On the other hand, the severity of the disease and the onset of long-COVID has been associated with different genes involved in the inflammatory and immune response. Particularly interesting has been the association found with the FOXP4 locus.
CONCLUSIONS
Although studies on long-COVID are insufficient to fully comprehend the cause, it is clear that the current identified genetic factors do not fully explain the progression and onset of long-COVID. Other factors such as polygenic action, pleiotropic genes, the microbiota and epigenetic changes must be considered and studied.
Topics: Humans; Post-Acute COVID-19 Syndrome; COVID-19; Forkhead Transcription Factors
PubMed: 38277732
DOI: 10.1016/j.semerg.2023.102187 -
Hemoglobin Nov 2023The sickle cell disease (SCD) population has been considered particularly vulnerable to viral pandemics since the emergence of H1N1 in 2009. In this sense, the advance... (Meta-Analysis)
Meta-Analysis Review
The sickle cell disease (SCD) population has been considered particularly vulnerable to viral pandemics since the emergence of H1N1 in 2009. In this sense, the advance of the COVID-19 pandemic from 2020 has brought this group of patients to the center of concern. However, scientific knowledge about the susceptibility of patients with SCD to a severe COVID-19 pandemic is still insufficient, and efforts to establish a general profile of the disease in these patients, remain inadequate. The present study, therefore, sought to characterize the case fatality rate and severity of COVID-19 in patients with SCD throughout the world. A systematic review of Pubmed/MEDLINE, Scopus, Cochrane Library, and Virtual Health Library databases through December 2021 was then performed. Subsequently, the primary and secondary outcomes were used in the meta-analysis in RStudio® software. Seventy-two studies were included with 6,011 SCD patients confirmed to have SARS-CoV-2 infection between mid-2020 and early 2022. The mean age of patients was 27 years. During this period, 218 deaths caused by COVID-19 were reported in the studied population, corresponding to an overall case fatality rate of 3%. In addition, 10% of patients with SCD were admitted to the ICU after complications caused by COVID-19, and 4% of them required invasive ventilatory support. In conclusion, the high fatality rate, intensive care unit admission and need for mechanical ventilation due to COVID-19 in young patients with SCD indicate that this population is at high risk for severe disease progression.
Topics: Humans; Adult; COVID-19; SARS-CoV-2; Pandemics; Influenza A Virus, H1N1 Subtype; Anemia, Sickle Cell
PubMed: 37325879
DOI: 10.1080/03630269.2023.2219847 -
Chemico-biological Interactions Sep 2023Cumulating evidence links environmental toxicants, such as organophosphate (OP) pesticides, to the pathogenesis of Alzheimer's disease (AD). The calcium-dependent... (Meta-Analysis)
Meta-Analysis
Cumulating evidence links environmental toxicants, such as organophosphate (OP) pesticides, to the pathogenesis of Alzheimer's disease (AD). The calcium-dependent Paraoxonase 1 (PON1) can neutralize these toxicants with good catalytic efficiency, thus protecting from OP-induced biological damage. Although different previous studies have already partially described an association between PON1 activity and AD, this intriguing relationship has not yet been comprehensively examined. To fill this gap, we performed a meta-analysis of existing data comparing the PON1 arylesterase activity in AD and healthy subjects from the general population. Data were obtained by searching MEDLINE, Embase and CENTRAL, Google Scholar, and SCOPUS electronic databases for all studies published at any time up to February 2023, reporting and comparing the PON1- paraoxonase activity between AD patients and controls. Seven studies, based on 615 subjects (281 AD and 356 controls) met the inclusion criteria and were included into the final analysis. A random effect model revealed that PON1 arylesterase activity was significantly lower in the AD group compared to controls, exhibiting low level of heterogeneity (SMD = - 1.62, 95% CI = -2.65 to -0.58, p = 0.0021, I = 12%). These findings suggest that PON1 activity might be reduced in AD reflecting a major susceptibility to OPs neurotoxicity. Further studies should be conducted to definitely ascertain this link and to establish the cause-effect relationship between PON1 reduction and AD onset.
Topics: Humans; Aryldialkylphosphatase; Alzheimer Disease; Organophosphorus Compounds
PubMed: 37330180
DOI: 10.1016/j.cbi.2023.110601 -
Journal of Developmental Origins of... Dec 2023The developmental origins of health and disease (DOHaD) framework has highlighted the importance of the early life period on disease risk in later life with impacts that... (Review)
Review
The developmental origins of health and disease (DOHaD) framework has highlighted the importance of the early life period on disease risk in later life with impacts that can span generations. A primary focus to date has been around maternal health and the 'First Thousand Days' as a key developmental window whereby an adverse environment can have lasting impacts on both mother and offspring. More recently, the impact of paternal health has gathered increasing traction as a key window for early life developmental programming. However, to date, adolescents, the next generation of parents, have attracted less attention as a key DOHaD window although many behavioural traits become entrained during adolescence and track into adulthood. This systematic review examined literature focused on identifying adolescent understanding of DOHaD concepts. Consistent across the eligible articles was that overall understanding of DOHaD-related concepts in adolescents was low. Three key themes emerged: 1. Individual-level awareness of DOHaD concepts (cognitive engagement and action of the adolescents themselves); 2. Interpersonal communication and social awareness of DOHaD concepts (cognitive engagement and communication of the DOHaD concepts to family and wider community); and 3. Health literacy and the promotion of adolescence as a key DOHaD life stage. These findings highlight the need to develop strategic approaches to increase DOHaD awareness that are not only appealing to adolescents but can also support sustained changes in health behaviour. Investment in today's adolescents has the potential to act as a NCD 'circuit breaker' and thus will yield significant dividends for future generations.
Topics: Male; Female; Humans; Adolescent; Health Behavior; Mothers; Disease Susceptibility; Fathers; Health Literacy
PubMed: 38258455
DOI: 10.1017/S2040174423000442 -
The Journal of Allergy and Clinical... May 2024Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare clinical syndrome characterized by vulnerability to weakly virulent mycobacterial species, including...
BACKGROUND
Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare clinical syndrome characterized by vulnerability to weakly virulent mycobacterial species, including Bacillus Calmette-Guérin (BCG) vaccines and environmental mycobacteria.
OBJECTIVE
We sought to perform a systematic review of the genetic, immunologic, and clinical findings for reported patients with MSMD.
METHODS
We searched PubMed, Web of Science, and Scopus databases for publications in English relating to MSMD. All full texts were evaluated for eligibility for inclusion. Two reviewers independently selected the publications, with a third reviewer consulted in cases of disagreement.
RESULTS
A primary systematic search and searches of other resources identified 16,155 articles. In total, 158 articles from 63 countries were included in qualitative and quantitative analyses. In total, 830 patients-436 males (52.5%), 369 females (44.5%), and 25 patients of unknown sex (3.0%)-from 581 families were evaluated. A positive family history was reported in 347 patients (45.5%). The patients had a mean age of 10.41 ± 0.42 (SEM) years. The frequency of MSMD was highest in Iran, Turkey, and Saudi Arabia. Lymphadenopathy was the most common clinical manifestation of MSMD, reported in 378 (45.5%) cases and multifocal in 35.1%. Fever, organomegaly, and sepsis were the next most frequent findings, reported in 251 (30.2%), 206 (24.8%), and 171 (20.8%) cases, respectively. In total, 299 unique mutations in 21 genes known to be involved in MSMD were reported: 100 missense (34%), 80 indel-frameshift (insertion or deletion, 27%), 53 nonsense (18%), 35 splice site (12%), 10 indel-in frame (2.7%), 6 indel (2%), and 15 large deletion/duplication mutations. Finally, 61% of the reported patients with MSMD had mutations of IL12RB1 (41%) or IFNGR1 (20%). At the time of the report, 177 of the patients (21.3%) were dead and 597 (71.9%) were still alive.
CONCLUSIONS
MSMD is associated with a high mortality rate, mostly due to impaired control of infection. Preexposure strategies, such as changes in vaccination policy in endemic areas, the establishment of a worldwide registry of patients with MSMD, and precise follow-up over generations in affected families, appear to be vital to decrease MSMD-related mortality.
Topics: Humans; Mycobacterium Infections; Genetic Predisposition to Disease; Male; Female; Child; BCG Vaccine
PubMed: 38341181
DOI: 10.1016/j.jaci.2024.01.021 -
Journal of Neurology Jun 2024Moyamoya disease (MMD) is a rare disorder causing ischemic and hemorrhagic juvenile stroke. It is associated with the founder susceptibility variant p.R4810K in the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Moyamoya disease (MMD) is a rare disorder causing ischemic and hemorrhagic juvenile stroke. It is associated with the founder susceptibility variant p.R4810K in the RNF213 gene in East Asia. Our aim was to enhance understanding of MMD in so far poorly characterized Southeast Asians and exploring differences with Caucasian Europeans.
METHODS
By retrospective analysis of medical records and systematic database search on PubMed for all published cases, we identified Southeast Asian patients with MMD. We extracted and pooled proportions using fixed-effects models. Our own cohort was tested for the East Asian RNF213 founder variant p.R4810K. One of our Southeast Asian patients underwent post-mortem histopathological examination.
RESULTS
The study cohort comprised 32 Southeast Asians. Mean age at onset in the entire cohort was 32.5 ± 20.3 years (n = 24), 43.4 ± 8.7 years in patients admitted to our center (n = 11), and 23.4 ± 22.4 years in patients from the international literature (n = 13). Female-to-male ratio was 1.6:1. MMD predominantly affected bilateral anterior intracranial vessels. Cerebral ischemia outnumbered transient ischemic attacks (TIAs) and intracranial hemorrhage. TIAs, arterial hypertension and obesity were significantly less frequent in Southeast Asian patients compared to Caucasian Europeans. p.R4810K was absent in all examined Southeast Asians despite of typical histopathological signs of MMD in one autopsy case.
CONCLUSION
Clinical and histopathological manifestations of MMD in Southeast Asians are similar to those in Caucasian Europeans. The genotype of MMD in Southeast Asians differs from that of most East Asian patients.
Topics: Moyamoya Disease; Humans; Male; Female; Adult; Autopsy; Middle Aged; Young Adult; Ubiquitin-Protein Ligases; Asia, Southeastern; Asian People; Adenosine Triphosphatases; Retrospective Studies; Adolescent; Southeast Asian People
PubMed: 38478032
DOI: 10.1007/s00415-024-12228-0 -
Ageing Research Reviews Jun 2024Caffeine is one of the most consumed psychoactive substances globally. Caffeine-gene interactions in Parkinson's disease (PD) has not been systematically examined. (Review)
Review
BACKGROUND
Caffeine is one of the most consumed psychoactive substances globally. Caffeine-gene interactions in Parkinson's disease (PD) has not been systematically examined.
OBJECTIVES
To conduct a systematic review on the interaction between caffeine consumption and genetic susceptibility to PD.
METHODOLOGY
We conducted PubMed and Embase search using terms "Genetic association studies", "Caffeine", "polymorphism" and "Parkinson's disease", from inception till 2023. Of the initial 2391 studies, 21 case-control studies were included. The demographic, genetic and clinical data were extracted and analyzed.
RESULTS
We identified 21 studies which involved a total of 607,074 study subjects and 17 gene loci (SNCA, MAPT, HLA-DRA, NOS1, NOS3, GBA, ApoE, BST1, ESR2, NAT2, SLC2A13, LRRK2, NOS2A, GRIN2A, CYP1A2, ESR1, ADORA2A) have been investigated for the effect of gene-caffeine interaction and PD risk. The genes were identified through PD GWAS or involved in caffeine or related metabolism pathways. Based on the genetic association and interaction studies, only MAPT, SLC2A13, LRRK2, ApoE, NOS2A, GRIN2A, CYP1A2, and ADORA2A have been shown by at least one study to have a positive caffeine-gene interaction influencing the risk of PD.
CONCLUSION
Studies have shown an interaction between caffeine with genetic variants of MAPT, SLC2A13, LRRK2, ApoE, NOS2A, GRIN2A, CYP1A2, and ADORA2A in modulating the risk of PD. Due to the potential limitations of these discovery/pilot studies, further independent replication studies are needed. Better designed genetic association studies in multi-ancestry and admixed cohorts to identify potential shared or unique multivariate gene-environmental interactions, as well as functional studies of gene-caffeine interactions will be useful.
PubMed: 38914264
DOI: 10.1016/j.arr.2024.102381 -
Acta Neurologica Belgica Dec 2023Studies on the relationship between Phosphodiesterase 4 D (PDE4D) gene polymorphism with the risk of ischemic stroke (IS) have shown discordant results. The present... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND AND PURPOSE
Studies on the relationship between Phosphodiesterase 4 D (PDE4D) gene polymorphism with the risk of ischemic stroke (IS) have shown discordant results. The present meta-analysis was aimed to clarify the relationship between PDE4D gene polymorphism with the risk of IS by estimating pooled analysis of published epidemiological studies.
METHODS
A comprehensive literature search for all the published articles was performed in various electronic databases, including PubMed, EMbase, Cochrane Library, Trip Database, Worldwide Science, CINAHL, and Google Scholar up to 22 December 2021. Pooled Odds ratios (ORs) with 95% Confidence Intervals (CIs) under dominant, recessive, and allelic models were calculated. Subgroup analysis based on ethnicity (Caucasian vs. Asian) was performed to examine the reliability of these findings. Sensitivity analysis was also performed to detect the heterogeneity between studies. Finally, Begg's funnel plot was used to assess the potential for publication bias.
RESULTS
In our meta-analysis, we identified a total of 47 case-control studies with 20,644 ischemic stroke (IS) cases and 23,201 control subjects, including 17 studies of Caucasian descent and 30 studies of Asian descent. Our findings suggest that there was a significant relationship between SNP45 gene polymorphism and risk of IS (Recessive model: OR = 2.06, 95% CI 1.31-3.23), SNP83 overall (allelic model: OR = 1.22, 95% CI 1.04-1.42), Asian (allelic model: OR = 1.20, 95% CI 1.05-1.37), and SNP89 Asian (Dominant model: OR = 1.43, 95% CI 1.29-1.59, recessive model: OR = 1.42, 95% CI 1.28-1.58) respectively. However, no significant relationship was found between SNP32, SNP41, SNP26, SNP56, and SNP87 gene polymorphisms and risk of IS.
CONCLUSION
Findings of this meta-analysis conclude that SNP45, SNP83, and SNP89 polymorphism could be capable of increasing stroke susceptibility in Asians but not in the Caucasian population. Genotyping of SNP 45, 83, 89 polymorphisms may be used as a predictor for the occurrence of IS.
Topics: Humans; Ischemic Stroke; Cyclic Nucleotide Phosphodiesterases, Type 4; Genetic Predisposition to Disease; Reproducibility of Results; Polymorphism, Single Nucleotide; Stroke; Brain Ischemia
PubMed: 36862303
DOI: 10.1007/s13760-023-02218-w -
Cytokine Jan 2024Endothelial nitric oxide (NO) produced by endothelial Nitric Oxide Synthase (eNOS) can promote the expression of pro-angiogenic cytokines and is favorable for... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Endothelial nitric oxide (NO) produced by endothelial Nitric Oxide Synthase (eNOS) can promote the expression of pro-angiogenic cytokines and is favorable for angiogenesis. However, the relationship between NOS3 gene polymorphisms and genetic susceptibility to congenital heart disease (CHD) was still unclear.
METHODS
We searched five databases including Pubmed, Cochrane Library, Embase, Web of Science, CNKI, and Wan Fang, to find all studies on NOS3 gene polymorphisms and CHD. Rstudio was used to merge the data included in the study to obtain OR, 95%CI, and forest plots.
RESULTS
Five relevant literatures were included, including three sites of NOS3 gene, rs1799983 (G894T), rs2070744 (T-786C), and rs7830 (G10T). Several models including the homozygous model of rs1799983 (G894T) gene polymorphism (TT VS GG: OR = 1.602, 95%CI: 1.098 ∼ 2.337, P = 0.027), rs7830 (G10T) gene polymorphism allele model (A VS C: OR = 1.171, 95%CI: 1.029 ∼ 1.333, P = 0.017), homozygous model (AA VS CC: OR = 1.474, 95%CI: 1.122 ∼ 1.936, P = 0.005) and implicit model (AA VS CC + AC: OR = 1.451, 95%CI: 1.133 ∼ 1.859, P = 0.003) indicated that there was a correlation. The results of the combined analysis of each gene model of rs2070744 (T-786C) gene polymorphism sites were not statistically significant, and their P values were all>0.05.
CONCLUSION
rs1799983 (G894T) and rs7830 (G10T) polymorphic sites might play a role in the susceptibility of sporadic congenital heart disease and increase the risk of CHD. Yet, it is still necessary to expand the sample size and conduct more prospective/retrospective studies to confirm whether the rs2070744 (T-786C) polymorphism tended to increase the incidence of CHD.
Topics: Humans; Nitric Oxide Synthase Type III; Retrospective Studies; Prospective Studies; Polymorphism, Genetic; Genetic Predisposition to Disease; Case-Control Studies; Heart Defects, Congenital; Polymorphism, Single Nucleotide; Genotype
PubMed: 37952311
DOI: 10.1016/j.cyto.2023.156415