The Genetic Contribution to Drug Response in Spondyloarthritis: A Systematic Literature Review.
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ABSTRACT:
SUBMITTER: Ortolan A
PROVIDER: S-EPMC8329488 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Since the 1960s, drugs have been known to cause teratogenic effects in humans. Such teratogenicity has been postulated to be influenced by genetics. The aim of this review was to provide an overview of the current knowledge on genetic susceptibility to drug teratogenicity in humans and reflect on future directions within the field of genetic teratology. We focused on 12 drugs and drug classes with evidence of teratogenic action, as well as 29 drugs and drug classes with conflicting evidence of fetal safety in humans. An extensive literature search was performed in the PubMed and EMBASE databases using terms related to the drugs of interest, congenital anomalies and fetal development abnormalities, and genetic variation and susceptibility. A total of 29 studies were included in the final data extraction. The eligible studies were published between 1999 and 2020 in 10 different countries, and comprised 28 candidate gene and 1 whole-exome sequencing studies. The sample sizes ranged from 20 to 9,774 individuals. Several drugs were investigated, including antidepressants (nine studies), thalidomide (seven studies), antiepileptic drugs (five studies), glucocorticoids (four studies), acetaminophen (two studies), and sex hormones (estrogens, one study; 17-alpha hydroxyprogesterone caproate, one study). The main neonatal phenotypic outcomes included perinatal complications, cardiovascular congenital anomalies, and neurodevelopmental outcomes. The review demonstrated that studies on genetic teratology are generally small, heterogeneous, and exhibit inconsistent results. The most convincing findings were genetic variants in SLC6A4, MTHFR, and NR3C1, which were associated with drug teratogenicity by antidepressants, antiepileptics, and glucocorticoids, respectively. Notably, this review demonstrated the large knowledge gap regarding genetic susceptibility to drug teratogenicity, emphasizing the need for further efforts in the field. Future studies may be improved by increasing the sample size and applying genome-wide approaches to promote the interpretation of results. Such studies could support the clinical implementation of genetic screening to provide safer drug use in pregnant women in need of drugs.
| S-EPMC8107476 | biostudies-literature
Project description:ObjectivesTo summarize the evidence on the performance of MRI for the diagnosis of axial SpA.MethodsThis was a systematic literature review of all studies from January 2013 to March 2017 including adult patients with clinically suspected axial SpA undergoing MRI. Studies from a previously published systematic literature review up to January 2013 were also included.ResultsThirty-one studies were included. Six studies demonstrated good sensitivity and specificity for SI joint (SIJ) bone marrow oedema (BMO). Specificity was increased by the presence of other structural lesions alongside BMO, particularly erosions or fat infiltration. Four studies addressed the utility of SIJ fat infiltration, finding good sensitivity but poor specificity. SIJ erosions showed good specificity in five studies. Studies addressing high T1 signal in the SIJ, fluid signal in the SIJ, ankylosis, sclerosis, capsulitis, backfill and vacuum phenomenon reported limited diagnostic value. In the spine, four studies reported moderate sensitivity and specificity for corner inflammatory lesions, and four reported poor sensitivity and specificity for spinal fat infiltration. Five studies evaluated the added value of spinal MRI over SIJ MRI alone, with variable results depending on the cohort. Six studies addressed the effect of acquisition parameters on diagnostic accuracy: fat-saturated T2-weighted imaging and short tau inversion recovery (STIR) imaging showed comparable utility in identifying BMO. Three studies showed that gadolinium was of minimal added value in the detection of BMO.ConclusionsThese results confirmed the diagnostic utility of MRI in axial SpA. Performance varied according to the characteristics of the cohort and the number and combination of MRI lesions considered.
| S-EPMC6812711 | biostudies-literature
Project description:PurposeTo assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.MethodsAfter a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved. Studies that did not include data on hearing assessment were excluded. Relative frequencies were used for qualitative variables to compare different studies and to obtain average values. Genetic variants and genes were listed and clustered according to their potential role in tinnitus development.ResultsThe average prevalence of tinnitus estimated from population-based studies was 26.3% for any tinnitus, and 20% of patients with tinnitus reported it as an annoying symptom. One study has reported population-specific differences in the prevalence of tinnitus, the white ancestry being the population with a higher prevalence. Genome-wide association studies have identified and replicated two common variants in the Chinese population (rs2846071; rs4149577) in the intron of TNFRSF1A, associated with noise-induced tinnitus. Moreover, gene burden analyses in sequencing data from Spanish and Swede patients with severe tinnitus have identified and replicated ANK2, AKAP9, and TSC2 genes.ConclusionsThe genetic contribution to tinnitus is starting to be revealed and it shows population-specific effects in European and Asian populations. The common allelic variants associated with tinnitus that showed replication are associated with noise-induced tinnitus. Although severe tinnitus has been associated with rare variants with large effect, their role on hearing or hyperacusis has not been established.
| S-EPMC10907330 | biostudies-literature
Project description:BACKGROUND: A systematic literature review was carried out to study the benefits of teleconsultation and videoconferencing on the multifaceted process of diabetes care. Previous reviews focused primarily on usability of technology and considered mainly one-sided interventions. OBJECTIVE: The objective was to determine the benefits and deficiencies of teleconsultation and videoconferencing regarding clinical, behavioral, and care coordination outcomes of diabetes care. METHODS: Electronic databases (Medline, PiCarta, PsycINFO, ScienceDirect, Telemedicine Information Exchange, ISI Web of Science, Google Scholar) were searched for relevant publications. The contribution to diabetes care was examined for clinical outcomes (eg, HbA(1c), blood pressure, quality of life), behavioral outcomes (patient-caregiver interaction, self-care), and care coordination outcomes (usability of technology, cost-effectiveness, transparency of guidelines, equity of care access). Randomized controlled trials (RCTs) with HbA(1c) as an outcome were pooled using standard meta-analytical methods. RESULTS: Of 852 publications identified, 39 met the inclusion criteria for electronic communication between (groups of) caregivers and patients with type 1, type 2, or gestational diabetes. Studies that evaluated teleconsultation or videoconferencing not particularly aimed at diabetes were excluded, as were those that described interventions aimed solely at clinical improvements (eg, HbA(1c)). There were 22 interventions related to teleconsultation, 13 to videoconferencing, and 4 to combined teleconsultation and videoconferencing. The heterogeneous nature of the identified videoconferencing studies did not permit a formal meta-analysis. Pooled results from the six RCTs of the identified teleconsultation studies did not show a significant reduction in HbA(1c) (0.03%, 95% CI = - 0.31% to 0.24%) compared to usual care. There was no significant statistical heterogeneity among the pooled RCTs (chi(2) (7)= 7.99, P = .33). It can be concluded that in the period under review (1994-2006) 39 studies had a scope broader than clinical outcomes and involved interventions allowing patient-caregiver interaction. Most of the reported improvements concerned satisfaction with technology (26/39 studies), improved metabolic control (21/39), and cost reductions (16/39). Improvements in quality of life (6/39 studies), transparency (5/39), and better access to care (4/39) were hardly observed. Teleconsultation programs involving daily monitoring of clinical data, education, and personal feedback proved to be most successful in realizing behavioral change and reducing costs. The benefits of videoconferencing were mainly related to its effects on socioeconomic factors such as education and cost reduction, but also on monitoring disease. Additionally, videoconferencing seemed to maintain quality of care while producing cost savings. CONCLUSIONS: The selected studies suggest that both teleconsultation and videoconferencing are practical, cost-effective, and reliable ways of delivering a worthwhile health care service to diabetics. However, the diversity in study design and reported findings makes a strong conclusion premature. To further the contribution of technology to diabetes care, interactive systems should be developed that integrate monitoring and personalized feedback functions.
| S-EPMC2270420 | biostudies-other
Project description:Extensive media coverage of the potential health benefits of vitamin D supplementation has translated into substantial increases in supplement sales over recent years. Yet, the potential for drug-vitamin D interactions is rarely considered. This systematic review of the literature was conducted to evaluate the extent to which drugs affect vitamin D status or supplementation alters drug effectiveness or toxicity in humans. Electronic databases were used to identify eligible peer-reviewed studies published through September 1, 2010. Study characteristics and findings were abstracted, and quality was assessed for each study. A total of 109 unique reports met the inclusion criteria. The majority of eligible studies were classified as class C (nonrandomized trials, case-control studies, or time series) or D (cross-sectional, trend, case report/series, or before-and-after studies). Only 2 class C and 3 class D studies were of positive quality. Insufficient evidence was available to determine whether lipase inhibitors, antimicrobial agents, antiepileptic drugs, highly active antiretroviral agents, or H2 receptor antagonists alter serum 25(OH)D concentrations. Atorvastatin appears to increase 25(OH)D concentrations, whereas concurrent vitamin D supplementation decreases concentrations of atorvastatin. Use of thiazide diuretics in combination with calcium and vitamin D supplements may cause hypercalcemia in the elderly or those with compromised renal function or hyperparathyroidism. Larger studies with stronger study designs are needed to clarify potential drug-vitamin D interactions, especially for drugs metabolized by cytochrome P450 3A4 (CYP3A4). Healthcare providers should be aware of the potential for drug-vitamin D interactions.
| S-EPMC5623087 | biostudies-literature
Project description:Spondyloarthritis (SpA) is a group of rheumatic diseases that cause joint inflammation. Accumulating studies have focused on the metabolomic profiling of SpA in recent years. We conducted a systematic review to provide a collective summary of previous findings on metabolomic profiling associated with SpA. We systematically searched PubMed, Medline, Embase and Web of Science for studies on comparisons of the metabolomic analysis of SpA patients and non-SpA controls. The Newcastle-Ottawa Scale (NOS) was used to assess the quality of the included articles. From 482 records identified, 31 studies were included in the analysis. A number of metabolites were differentially distributed between SpA and non-SpA cases. SpA patients showed higher levels of glucose, succinic acid, malic acid and lactate in carbohydrate metabolism, higher glycerol levels and lower fatty acid (especially unsaturated fatty acid) levels in lipid metabolism, and lower levels of tryptophan and glutamine in amino acid metabolism than healthy controls. Both conventional and biological therapy of SpA can insufficiently reverse the aberrant metabolism state toward that of the controls. However, the differences in the results of metabolic profiling between patients with SpA and other inflammatory diseases as well as among patients with several subtypes of SpA are inconsistent across studies. Studies on metabolomics have provided insights into etiological factors and biomarkers for SpA. Supplementation with the metabolites that exhibit decreased levels, such as short-chain fatty acids (SCFAs), has good treatment prospects for modulating immunity. Further studies are needed to elucidate the role of disordered metabolic molecules in the pathogenesis of SpA.
| S-EPMC9479008 | biostudies-literature
Project description:ObjectiveRA and axial SpA have an important impact on patients' lives. The objective of this study was to explore the reporting of different aspects of that impact in publications, with a focus on differences between diseases and over time.MethodsA systematic literature review retrieved all articles reporting on the life impact of RA or axial radiographic SpA in adults published within the last 10 years and issued from European research. The data were classified into physical impact (including pain, functional assessment and fatigue), psychological impact (including psychological distress and coping) and social impact (including relationships, family and social life). The number of articles published over time was analysed by linear regression.ResultsIn all, 1352 abstracts were screened and 149 publications (40,056 patients) were analysed: 129 articles (86.5%) concerned RA and 16 (10.7%) concerned axial SpA. The mean number of articles reporting on the physical aspects of impact was 11.4 (s.d. 4.8) per 2-year period, but increased more than 2-fold (from 7 articles in 2001-3 to 15 in 2010-11), in particular due to recent publications on fatigue, whereas the number of articles on psychological aspects [mean 12.4 (s.d. 4.0)] decreased markedly after 2006. Publications reporting on social aspects [mean 8.2 (s.d. 4.1)] remained globally stable.ConclusionIn the era of biologics, there is an interest in the patient-perceived life impact of RA and axial SpA in the European literature, but the impact of RA has been the subject of greater exploration. There are clearly trends over time in the reporting of impact.
| S-EPMC4065006 | biostudies-literature
Project description:BackgroundPatients with inflammatory bowel disease (IBD) have an excess burden of axial spondyloarthritis (axSpA), which, if left untreated, may significantly impact on clinical outcomes. We aimed to estimate the prevalence of axSpA, including previously undiagnosed cases, in IBD patients from studies involving cross-sectional imaging and identify the IBD features potentially associated with axSpA.MethodsPubMed, Embase and Cochrane databases were searched systematically between 1990 and 2018. Article reference lists and key conference abstract lists from 2012 to 2018 were also reviewed. All abstracts were reviewed by two authors to determine eligibility for inclusion. The study inclusion criteria were (a) adults aged 18 years or above, (b) a clinical diagnosis of IBD and (c) reporting identification of sacroiliitis using cross-sectional imaging.ResultsA total of 20 observational studies were identified: 12 used CT, 6 used MR and 2 utilised both computed tomography (CT) and magnetic resonance (MR) imaging. Sample sizes ranged from 25 to 1247 (a total of 4096 patients); 31 studies were considered to have low selection bias, 13 included two or more radiology readers, and 3 included rheumatological assessments. The prevalence of sacroiliitis, the most commonly reported axSpA feature, ranged from 2.2% to 68.0% with a pooled prevalence of 21.0% [95% confidence interval (CI) 17-26%]. Associated IBD features include increasing IBD duration, increasing age, male sex, IBD location, inflammatory back pain and peripheral arthritis. No significant difference in the prevalence of sacroiliitis between Crohn's disease and ulcerative colitis was identified. Study limitations include variability in the individual study sample sizes and patient demographics.ConclusionThis review highlights the need for larger, well-designed studies using more sensitive imaging modalities and multivariable modelling to better estimate the prevalence of axSpA in IBD. An improved knowledge of the IBD phenotype(s) associated with axSpA and use of cross-sectional imaging intended for IBD assessment to screen for axSpA may help clinicians identify those patients most at risk.
| S-EPMC7958176 | biostudies-literature
Project description:Large-scale transcriptome and methylome data analyses obtained by high-throughput technologies have been enabling the identification of novel imprinted genes. We investigated genome-wide DNA methylation patterns in multiple human tissues, using a high-resolution microarray to uncover hemimethylated CpGs located in promoters overlapping CpG islands, aiming to identify novel candidate imprinted genes. Using our approach, we recovered ~30% of the known human imprinted genes, further 168 candidates were identified, 61 of which with at least three hemimethylated CpGs shared by more than two tissue types. Thirty-four of these candidate genes are members of the protocadherins cluster on 5q31.3; in mice, protocadherin genes have non-imprinted monoallelic randomic expression, which might be the case in humans. Among the remaining 27 genes, ZNF331 was recently validated as an imprinted gene, and six of them have been reported as candidates, supporting our prediction. Five candidates (CCDC166, ARC, PLEC, TONSL and VPS28) map to 8q24.3, and might constitute a novel imprinted cluster. Additionally, we performed a comprehensive compilation of known human and mice imprinted genes from literature and databases, and a comparison among high-throughput imprinting studies in humans. The screening for hemimethylated CpGs shared by multiple human tissues, together with the extensive review, appears as a useful approach to reveal candidate imprinted genes.
2017-09-26 | GSE103413 | GEO
Project description:Identification of axial spondyloarthritis (axSpA) remains challenging, frequently resulting in a diagnostic delay for patients. Current benchmarks of delay are usually reported as mean data, which are typically skewed and therefore may be overestimating delay. Our aim was to determine the extent of median delay patients' experience in receiving a diagnosis of axSpA and examine whether specific factors are associated with the presence of such delay. We conducted a systematic review across five literature databases (from inception to November 2021), with studies reporting the average time period of diagnostic delay in patients with axSpA being included. Any additional information examining associations between specific factors and delay were also extracted. A narrative synthesis was used to report the median range of diagnostic delay experienced by patients with axSpA and summarise which factors have a role in the delay. From an initial 11,995 articles, 69 reported an average time period of diagnostic delay, with 25 of these providing a median delay from symptom onset to diagnosis. Across these studies, delay ranged from 0.67 to 8 years, with over three-quarters reporting a median of between 2 years and 6 years. A third of all studies reported median delay data ranging from just 2 to 2.3 years. Of seven variables reported with sufficient frequency to evaluate, only 'gender' and 'family history of axSpA' had sufficient concordant data to draw any conclusion on their role, neither influenced the extent of the delay. Despite improvements in recent decades, patients with axSpA frequently experience years of diagnostic delay and this remains an extensive worldwide problem. This is further compounded by a mixed picture of the disease, patient and healthcare-related factors influencing delay. Key points • Despite improvements in recent decades, patients with axSpA frequently experience years of diagnostic delay. • Median diagnostic delay typically ranges from 2 to 6 years globally. • Neither 'gender' nor 'family history of axSpA' influenced the extent of diagnostic delay experienced. • Diagnostic delay based on mean, rather than median, data influences the interpretation of the delay time period and consistently reports a longer delay period.
| S-EPMC9187558 | biostudies-literature