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World Journal of Pediatric Surgery 2022Previous studies have suggested an association between vascular endothelial growth factor A () rs3025039 polymorphism and biliary atresia (BA). However, this conclusion... (Review)
Review
BACKGROUND
Previous studies have suggested an association between vascular endothelial growth factor A () rs3025039 polymorphism and biliary atresia (BA). However, this conclusion is controversial and there is no published pooled evidence of this association.
METHODS
This study was conducted and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. The protocol was registered with PROSPERO (International Prospective Register of Systematic Reviews). A thorough search was performed on databases including PubMed, Embase, and Chinese Biomedical Database up to August 2020. This study included 846 cases of BA and 2821 controls concerning rs3025039 polymorphism. We selected relevant studies based on the following inclusion criteria: (1) the study design was case-control and cohort and (2) the patients carried standard clinical diagnoses of BA, etc. The exclusion criteria were as follows: (1) patients with other related diseases, (2) lack of requisite information and (3) duplicate data. The OR (odd ratio) and the corresponding 95% CI (confidence interval) were calculated to estimate the association.
RESULTS
This study on rs3025039 polymorphism in the Chinese population included 846 cases and 2821 controls. The results showed that there was no significant association between rs3025039 and susceptibility to BA under four genetic models. The results of the subgroup analysis were similar to the overall results.
CONCLUSIONS
This meta-analysis shows that rs3025039 was not associated with susceptibility to BA in the Chinese population. Further validation may entail additional research.
PROSPERO REGISTRATION NUMBER
CRD42020203812.
PubMed: 36474631
DOI: 10.1136/wjps-2021-000344 -
The Cochrane Database of Systematic... Oct 2015Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop... (Review)
Review
BACKGROUND
Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications. This is an update of a previously published review.
OBJECTIVES
To determine if newborn population screening for the diagnosis of homocystinuria due to cystathionine beta synthase deficiency leads to clinical benefit compared to later clinical diagnosis.
SEARCH METHODS
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.Date of the most recent search of the Inborn Errors of Metabolism Register: 08 June 2015.
SELECTION CRITERIA
Randomised controlled trials and controlled clinical trials assessing the use of any neonatal screening test to diagnose infants with homocystinuria before the condition becomes clinically evident. Eligible studies compare a screened population versus a non-screened population.
DATA COLLECTION AND ANALYSIS
No studies were identified for inclusion in the review.
MAIN RESULTS
No studies were identified for inclusion in the review.
AUTHORS' CONCLUSIONS
We were unable to identify eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on controlled studies; however, we are aware of uncontrolled case-series which support the efficacy of newborn screening for homocystinuria and its early treatment. Any future randomised controlled trial would need to be both multicentre and long term in order to provide robust evidence for or against screening and to allow a cost effectiveness analysis to be undertaken.
Topics: Cystathionine beta-Synthase; Early Diagnosis; Homocystinuria; Humans; Infant, Newborn; Neonatal Screening
PubMed: 26423208
DOI: 10.1002/14651858.CD008840.pub4 -
Sleep Medicine Reviews Oct 2021Epidemiological and interventional research has highlighted sleep as a potentially modifiable risk factor associated with poor physical and mental health. Emerging... (Meta-Analysis)
Meta-Analysis Review
Epidemiological and interventional research has highlighted sleep as a potentially modifiable risk factor associated with poor physical and mental health. Emerging evidence from (behavioral) genetic research also shows that sleep characteristics are under strong genetic control. With this study we aimed to meta-analyze the literature in this area to quantify the heritability of sleep duration and sleep quality in the general population. We conducted a systematic literature search in five online databases on January 24th 2020. Two authors independently screened 5644 abstracts, and 160 complete articles for the inclusion criteria of twin studies from the general population reporting heritability statistics on sleep duration and/or quality, and written in English. We ultimately included 23 papers (19 independent samples: 45,328 twins between 6 mo and 88 y) for sleep duration, and 13 papers (10 independent samples: 39,020 twins between 16 and 95 y) for sleep quality. Collectively, we showed that 46% of the variability in sleep duration and 44% of the variability in sleep quality is genetically determined. The remaining variation in the sleep characteristics can mostly be attributed to the unique environment the twins experience, although the shared environment seemed to play a role for the variability of childhood sleep duration. Meta-analyzed heritability estimates for sleep duration, however, varied substantially with age (17% infancy, 20-52% childhood, 69% adolescence and 42-45% adulthood) and reporter (8% parent-report, 38-52% self-report). Heritability estimates for actigraphic and Polysomnography (PSG)-estimated sleep were based on few small samples, warranting more research. Our findings highlight the importance of considering genetic influences when aiming to understand the underlying mechanisms contributing to the trajectories of sleep patterns across the lifespan.
Topics: Actigraphy; Adolescent; Adult; Humans; Polysomnography; Self Report; Sleep; Sleep Wake Disorders
PubMed: 33636423
DOI: 10.1016/j.smrv.2021.101448 -
European Review For Medical and... Jan 2017Thyroid disorders, especially Hashimoto's thyroiditis (HT), are observed significantly more often in patients with polycystic ovary syndrome (PCOS) than in the general... (Review)
Review
OBJECTIVE
Thyroid disorders, especially Hashimoto's thyroiditis (HT), are observed significantly more often in patients with polycystic ovary syndrome (PCOS) than in the general population - approximately 27% and 8%, respectively. This is extremely important in young women, because both disorders are connected with fertility problems. As HT and PCOS occur together, fertility problems may become a serious clinical issue in these patients.
MATERIALS AND METHODS
A systematic literature review in PubMed of PCOS- and HT-related articles in English, published until December 2015 was conducted.
RESULTS
The reasons for joint prevalence still remain unclear. Genetic and autoimmune backgrounds are recognized to be possible common etiological factors. Three genetic polymorphisms have been described to play a role in PCOS as well as in HT. They are polymorphism of the gene for fibrillin 3 (FBN3) regulating the activity of transforming growth factor-b (TGF-b) and regulatory T cell levels, gonadotropin-releasing hormone receptor (GnRHR) polymorphism and CYP1B1 polymorphism standing for estradiol hydroxylation. High estrogen-to-progesterone ratios owing to anovulatory cycles, as well as high estrogen levels during prenatal life, disrupt development of the thymus and its function in maintaining immune tolerance, and are suspected to enhance autoimmune response in PCOS. Vitamin D deficiency could be also involved in the pathogenesis of HT and PCOS.
CONCLUSIONS
The above-mentioned common etiological factors associated with fertility problems in HT and PCOS require further research.
Topics: Cytochrome P-450 CYP1B1; Female; Fibrillins; Hashimoto Disease; Humans; Polycystic Ovary Syndrome; Receptors, LHRH; Transforming Growth Factor beta
PubMed: 28165551
DOI: No ID Found -
Aging Clinical and Experimental Research Sep 2021Bitter taste receptors (TAS2R) are involved in a variety of non-tasting physiological processes, including immune-inflammatory ones. Therefore, their genetic variations... (Meta-Analysis)
Meta-Analysis Review
Bitter taste receptors (TAS2R) are involved in a variety of non-tasting physiological processes, including immune-inflammatory ones. Therefore, their genetic variations might influence various traits. In particular, in different populations of South Italy (Calabria, Cilento, and Sardinia), polymorphisms of TAS2R16 and TAS238 have been analysed in association with longevity with inconsistent results. A meta-analytic approach to quantitatively synthesize the possible effect of the previous variants and, possibly, to reconcile the inconsistencies has been used in the present paper. TAS2R38 variants in the Cilento population were also analysed for their possible association with longevity and the obtained data have been included in the relative meta-analysis. In population from Cilento no association was found between TAS2R38 and longevity, and no association was observed as well, performing the meta-analysis with data of the other studies. Concerning TAS2R16 gene, instead, the genotype associated with longevity in the Calabria population maintained its significance in the meta-analysis with data from Cilento population, that, alone, were not significant in the previously published study. In conclusion, our results suggest that TAS2R16 genotype variant is associated with longevity in South Italy.
Topics: Genotype; Humans; Longevity; Polymorphism, Single Nucleotide; Receptors, G-Protein-Coupled; Taste
PubMed: 33170488
DOI: 10.1007/s40520-020-01745-3 -
Human Vaccines & Immunotherapeutics Nov 2016Antigenic drift of seasonal influenza viruses and the occasional introduction of influenza viruses of novel subtypes into the human population complicate the timely... (Review)
Review
Antigenic drift of seasonal influenza viruses and the occasional introduction of influenza viruses of novel subtypes into the human population complicate the timely production of effective vaccines that antigenically match the virus strains that cause epidemic or pandemic outbreaks. The development of game-changing vaccines that induce broadly protective immunity against a wide variety of influenza viruses is an unmet need, in which recombinant viral vectors may provide. Use of viral vectors allows the delivery of any influenza virus antigen, or derivative thereof, to the immune system, resulting in the optimal induction of virus-specific B- and T-cell responses against this antigen of choice. This systematic review discusses results obtained with vectored influenza virus vaccines and advantages and disadvantages of the currently available viral vectors.
Topics: Animals; Drug Carriers; Genetic Vectors; Humans; Influenza Vaccines; Vaccines, Attenuated; Vaccines, Synthetic; Viruses
PubMed: 27455345
DOI: 10.1080/21645515.2016.1210729 -
Journal of Neuromuscular Diseases 2023Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression. (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Dystrophinopathies are associated with neuropsychiatric disorders due to alterations in dystrophin/DMD expression.
OBJECTIVE
The objective was to estimate the association of developmental disorders, autism spectrum disorders (ASD), attention deficit hyperactivity disorder (ADHD), depression, anxiety disorders, and obsessive-compulsive disorder with the dystrophin/DMD genotype in population with dystrophinopathies.
METHODS
Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to September 2022. We included observational studies in the population with Becker or Duchenne muscular dystrophies (BMD, DMD) that estimated the prevalence of these disorders according to Dp140 and/or Dp71 genotype. Meta-analysis of the prevalence ratio (PR) of genotype comparisons was conducted for each disorder.
RESULTS
Ten studies were included in the systematic review. In BMD, Dp140+ vs. Dp140- and Dp71+ vs. Dp71- were associated with developmental disorders with a PR of 0.11 (0.04, 0.34) and 0.22 (0.07, 0.67), respectively. In DMD, Dp140+/Dp71+ vs. Dp140- /Dp71- had a PR of 0.40 (0.28, 0.57), and Dp71+ vs. Dp71- had a PR of 0.47 (0.36, 0.63) for ADHD. However, there was no association of genotype with ASD, only a trend was observed for Dp71+ vs. Dp71-, with a PR of 0.61 (0.35, 1.06). Moreover, the data showed no association of these isoforms with emotional-related disorders.
CONCLUSIONS
In BMD, Dp140 and Dp71 could be associated with developmental disorders, while ADHD might be associated with the Dp71 genotype in DMD. Further research is needed regarding Dp140 and Dp71, especially in DMD for ASD.
Topics: Humans; Dystrophin; Genetic Predisposition to Disease; Genotype; Mental Disorders; Muscular Dystrophies; Muscular Dystrophy, Duchenne; Prevalence
PubMed: 36565132
DOI: 10.3233/JND-221586 -
PLoS Neglected Tropical Diseases Feb 2020We review epidemiological and clinical data on human myiasis from Ecuador, based on data from the Ministry of Public Health (MPH) and a review of the available...
We review epidemiological and clinical data on human myiasis from Ecuador, based on data from the Ministry of Public Health (MPH) and a review of the available literature for clinical cases. The larvae of four flies, Dermatobia hominis, Cochliomyia hominivorax, Sarcophaga haemorrhoidalis, and Lucilia eximia, were identified as the causative agents in 39 reported clinical cases. The obligate D. hominis, causing furuncular lesions, caused 17 (43.5%) cases distributed along the tropical Pacific coast and the Amazon regions. The facultative C. hominivorax was identified in 15 (38%) clinical cases, infesting wound and cavitary lesions including orbital, nasal, aural and vaginal, and occurred in both subtropical and Andean regions. C. hominivorax was also identified in a nosocomial hospital-acquired wound. Single infestations were reported for S. haemorrhoidalis and L. eximia. Of the 39 clinical cases, 8 (21%) occurred in tourists. Ivermectin, when it became available, was used to treat furuncular, wound, and cavitary lesions successfully. MPH data for 2013-2015 registered 2,187 cases of which 54% were reported in men; 46% occurred in the tropical Pacific coast, 30% in the temperate Andes, 24% in the tropical Amazon, and 0.2% in the Galapagos Islands. The highest annual incidence was reported in the Amazon (23 cases/100,000 population), followed by Coast (5.1/100,000) and Andes (4.7/100,000). Human myiasis is a neglected and understudied ectoparasitic infestation, being endemic in both temperate and tropical regions of Ecuador. Improved education and awareness among populations living in, visitors to, and health personnel working in high-risk regions, is required for improved epidemiological surveillance, prevention, and correct diagnosis and treatment.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Animals; Child; Child, Preschool; Diptera; Ecuador; Female; Humans; Infant; Male; Middle Aged; Myiasis; Travel; Young Adult
PubMed: 32084134
DOI: 10.1371/journal.pntd.0007858 -
Evolution, Medicine, and Public Health 2021Social scientists have long understood race to be a social category invented to justify slavery and evolutionary biologists know the socially constructed racial... (Review)
Review
Social scientists have long understood race to be a social category invented to justify slavery and evolutionary biologists know the socially constructed racial categories do not align with our biological understanding of genetic variation. The completion of the Human Genome Project in 2003 confirmed humans are 99.9% identical at the DNA level and there is no genetic basis for race. A systematic review of the PubMed medical literature published since 2003 was conducted to assess the use of African ancestry to denote study populations in genetic studies categorized as clinical trials, to examine the stated rationale for its use and to assess the use of evolutionary principles to explain human genetic diversity. We searched for papers that included the terms 'African', 'African American' or 'Black' in studies of behavior (20 papers), physiological responses, the pharmacokinetics of drugs and/or disease associations (62 papers), and as a genetic category in studies, including the examination of genotypes associated with life stress, pain, stuttering and drug clearance (126 papers). Of these, we identified 74 studies in which self-reported race alone or in combination with admixture mapping was used to define the study population. However, none of these studies provided a genetic explanation for the use of the self-identified race as a genetic category and only seven proffered evolutionary explanations of their data. The concept of continuous genetic variation was not clearly articulated in any of these papers, presumably due to the paucity of evolutionary science in the college and medical school curricula.
PubMed: 34815885
DOI: 10.1093/emph/eoab018 -
Genetics in Medicine : Official Journal... Jun 2023Microcosting can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to... (Review)
Review
PURPOSE
Microcosting can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to identify studies employing microcosting methods to estimate the cost of genomic sequencing to diagnose cancer and rare diseases.
METHODS
Four electronic databases, Medline, Embase, EconLit, and Cumulated Index to Nursing and Allied Health Literature were searched. Reference lists of identified studies were also searched. Studies were included if they had estimated the cost of genome sequencing or exome sequencing for cancer or rare disease diagnosis using microcosting methods.
RESULTS
Seven studies met the inclusion criteria. Cost estimates for genome sequencing and exome sequencing ranged between US$2094 and $9706 and US$716 and $4817 per patient, respectively. All studies disaggregated resource use and cost inputs into labor, equipment, and consumables, with consumables being the main cost component. Considerable differences in the level of detail used to report the steps and resources used in each of the sequencing steps limited study comparisons.
CONCLUSION
Defining a standard microcosting methodology is challenging because of the heterogeneous nature of genomic sequencing. Reporting of detailed and complete sequencing procedures, inclusion of sensitivity analyses and clear justifications of resource use, and measurement of unit costs can improve comparability, transferability, and generalizability of study findings.
Topics: Humans; Neoplasms; Exome Sequencing; Cost-Benefit Analysis; Chromosome Mapping; Rare Diseases; Genomics
PubMed: 36939042
DOI: 10.1016/j.gim.2023.100829