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Journal of Geriatric Oncology May 2024Frailty is a syndrome affecting primarily older adults that can impact disease course, treatment, and outcomes in patients with lung cancer (LC). We systematically... (Review)
Review
INTRODUCTION
Frailty is a syndrome affecting primarily older adults that can impact disease course, treatment, and outcomes in patients with lung cancer (LC). We systematically reviewed current data on the correlation between frailty and overall survival (OS), recurrence-free survival (RFS), and the risk of complications in older patients with LC.
MATERIALS AND METHODS
PubMed, EMBASE, and Scopus databases were searched for observational cohort, cross-sectional, and case-control studies involving participants aged 18 years or older diagnosed with LC. Eligible studies were required to perform frailty assessments and have non-frail participants as a comparator group. Random-effects models were used for analysis, and the reported effect sizes were represented as hazards ratio (HR) or odds ratios (OR) with associated 95% confidence intervals (CI).
RESULTS
Seventeen studies were included, most with a retrospective cohort design (n = 16) and patients with non-small cell lung carcinoma (NSCLC). Older patients with LC and frailty had lower OS (HR 1.70, 95% CI: 1.39, 2.07) and RFS (HR 2.50, 95% CI: 1.02, 6.12), compared to non-frail subjects. Frail subjects also had increased risk of complications (OR 1.89, 95% CI: 1.42, 2.53).
DISCUSSION
The observed association between frailty and OS, RFS, and an increased susceptibility to complications emphasizes the potential significance of frailty status as a substantial prognostic indicator. Our results underscore the vital role of including frailty assessment as an integral element within the management plan for patients dealing with lung cancer.
PubMed: 38824058
DOI: 10.1016/j.jgo.2024.101804 -
BMC Pregnancy and Childbirth May 2024The causes of infertility have remained an important challenge. The relationship between VDR gene polymorphisms and infertility has been reported, with controversial... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The causes of infertility have remained an important challenge. The relationship between VDR gene polymorphisms and infertility has been reported, with controversial findings.
OBJECTIVE AND RATIONALE
We aimed to determine this relationship by conducting a systematic review and meta-analysis.
SEARCH METHODS
The study was started with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) declaration and the final draft was registered as a protocol in PROSPERO (ID: CRD42023416535). The international electronic databases including PubMed (Medline), Scopus, Web of Sciences, and Cumulative Index to Nursing and Allied Health Literature (CINHAL) were searched until January 30, 2023, by using appropriate keywords. The quality of the final studies was assessed using the NOS Checklist for case-control studies. The odds ratios (ORs) for each of the genetic models were pooled, and a subgroup analysis based on geographical region and types of infertility was carried out by the MetaGenyo online tool.
OUTCOMES
Case-control studies including 18 and 2 studies about infertility in women and men, respectively, and 4 miscarriage studies were entered into the meta-analysis. The VDR gene TaqI polymorphism was associated with infertility susceptibility in women in the allele contrast [OR = 1.2065, 95% CI (1.0846-1.3421); P = 0.0005], Recessive model [OR = 1.3836, 95% CI (1.1197-1.7096); P = 0.002], Dominant model [OR = 1.2146, 95% CI (0.0484-1.4072); P = 0.009], Homozygote [OR = 1.4596, 95% CI (1.1627-1.8325); P = 0.001], and TT vs. Tt [OR = 1.2853, 95% CI (1.0249-1.6117); P = 0.029. ApaI and FokI gene polymorphisms were found to be significantly protective SNPs against women and men infertility in the Dominant model [OR = 0.8379, 95% CI (0.7039- 0.9975); P = 0.046] and Recessive model [OR = 0.421, 95% CI (0.1821-0.9767); P = 0.043], respectively. Sub-group meta-analysis showed a protection association of ApaI in dominant [OR = 0.7738, 95% CI = 0.6249-0.9580; P = 0.018] and AA vs. aa [OR = 0.7404, 95 CI% (0.5860-0.9353) P = 0.011725] models in PCOS subgroup, however, a negative association with idiopathic infertility was found in AA vs. Aa [OR = 1.7063, 95% CI (1.1039-2.6375); P = 0.016187] and Aa vs. aa [OR = 0.6069, 95% CI (0.3761-0.9792); P = 0.040754]. TaqI SNP was significantly associated with infertility in the African population and BsmI was associated with the disease mostly in the Asian population.
CONCLUSION
This meta-analysis showed that the TaqI polymorphism may be linked to women's infertility susceptibility. However, ApaI and FokI might be the protective SNPs against infertility in Women and men, respectively.
Topics: Humans; Receptors, Calcitriol; Female; Genetic Predisposition to Disease; Male; Polymorphism, Genetic; Infertility, Female; Case-Control Studies; Infertility; Infertility, Male
PubMed: 38816754
DOI: 10.1186/s12884-024-06590-0 -
PloS One 2024Familial Pancreatic Cancer (FPC) presents a notable risk, with 3-10% of pancreatic adenocarcinoma cases having a family history. Studies link FPC to syndromes like HBOC,... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Familial Pancreatic Cancer (FPC) presents a notable risk, with 3-10% of pancreatic adenocarcinoma cases having a family history. Studies link FPC to syndromes like HBOC, suggesting BRCA1/BRCA2 mutations play a role. BRCA gene functions in DNA repair impact FPC management, influencing sensitivity to therapies like PARP inhibitors. Identifying mutations not only aids FPC treatment but also reveals broader cancer risks. However, challenges persist in selectively applying genetic testing due to cost constraints. This Systematic Review focuses on BRCA1/BRCA2 significance in FPC, diagnostic criteria, prognostic value, and limitations.
METHOD
Original articles published from 2013 to January 2023 were sourced from databases such as Scopus, PubMed, ProQuest, and ScienceDirect. Inclusion criteria comprised observational cohort or diagnostic studies related to the role of BRCA1/2 mutation in correlation to familial pancreatic cancer (FPC), while article reviews, narrative reviews, and non-relevant content were excluded. The assessment of bias used ROBINS-I, and the results were organized using PICOS criteria in a Google spreadsheet table. The systematic review adhered to the PRISMA 2020 checklist.
RESULT
We analyzed 9 diagnostic studies encompassing 1325 families and 4267 patients from Italy, USA, and Poland. Despite the limitation of limited homogenous PICO studies, our findings effectively present evidence. BRCA1/2 demonstrates benefits in detecting first-degree relatives FPC involvement with 2.26-10 times higher risk. These mutation findings also play an important role since with the BRCA1/2 targeted therapy, Poly-ADP Ribose Polymerase inhibitors (PARP) may give better outcomes of FPC treatment. Analysis of BRCA1 and BRCA2 administration's impact on odds ratio (OR) based on six and five studies respectively. BRCA1 exhibited non-significant effects (OR = 1.26, P = 0.51), while BRCA2 showed significance (OR = 1.68, P = 0.04). No heterogeneity observed, indicating consistent results. Further research on BRCA1 is warranted.
CONCLUSION
Detecting the BRCA1/2 mutation gene offers numerous advantages, particularly in its correlation with FPC. For diagnostic and prognostic purposes, testing is strongly recommended for first-degree relatives, who face a significantly higher risk (2.26-10 times) of being affected. Additionally, FPC patients with identified BRCA1/2 mutations exhibit a more favorable prognosis compared to the non-mutated population. This is attributed to the availability of targeted BRCA1/2 therapy, which maximizes treatment outcomes.
Topics: Humans; Pancreatic Neoplasms; Germ-Line Mutation; BRCA2 Protein; BRCA1 Protein; Genetic Predisposition to Disease; Carcinoma
PubMed: 38809921
DOI: 10.1371/journal.pone.0299276 -
Journal of Renal Care May 2024Exercise has the potential to reduce the susceptibility to comorbidity and cardiovascular disease in kidney transplant recipients. However, kidney transplant recipients... (Review)
Review
BACKGROUND
Exercise has the potential to reduce the susceptibility to comorbidity and cardiovascular disease in kidney transplant recipients. However, kidney transplant recipients report lower levels of exercise compared to the general population, prompting an investigation into the barriers and enablers to exercise in this transplant cohort.
OBJECTIVES
This systematic review aimed to explore and map the barriers and enablers to exercise in kidney transplant recipients.
METHODS
Seven electronic databases were systematically searched. Themes were synthesised and then deductively categorised using the Theoretical Domains Framework.
RESULTS
Eleven studies were included in the review. Commonly reported barriers to exercise were lack of exercise guidance (n = 9 studies), physical limitations (n = 5 studies) and a fear of harming the kidney (n = 7 studies). Enablers were a desire to return to normality (n = 5 studies), physical and mental benefits (n = 3 studies), goal setting and tracking improvements (n = 3 studies). At the local level, barriers identified by kidney transplant recipients were a lack of knowledge, fear of injuring the kidney, bad weather and physical limitations. Perceived enablers were already living an active lifestyle, mental benefits, exercise preferences and social support.
CONCLUSION
Key findings of this research were an increased demand for specific/explicit exercise information regarding type and intensity, and personalised guidance and support for kidney transplant recipients after transplantation. These findings can be used to inform the development of exercise resources and interventions for kidney transplant recipients and their health care professionals within the local community and at a greater level.
PubMed: 38806247
DOI: 10.1111/jorc.12497 -
Journal of Neurology May 2024Loss of dorsolateral nigral hyperintensity (DNH) on iron-sensitive brain MRI is useful for Parkinson's disease detection. DNH loss could also be of diagnostic value in... (Review)
Review
INTRODUCTION
Loss of dorsolateral nigral hyperintensity (DNH) on iron-sensitive brain MRI is useful for Parkinson's disease detection. DNH loss could also be of diagnostic value in dementia with Lewy bodies (DLB), an a-synuclein-related pathology. We aim to quantitatively synthesize evidence, investigating the role of MRI, a first-line imaging modality, in early DLB detection and differentiation from other dementias.
METHODS
Our study was conducted according to the PRISMA statement. MEDLINE, Scopus, Web of Science, and Cochrane Library were searched using the terms like "dementia with Lewy bodies", "dorsolateral nigral hyperintensity", and "MRI". Only English-written peer-reviewed diagnostic accuracy studies were included. We used QUADAS-2 for quality assessment.
RESULTS
Our search yielded 363 search results. Three studies were eligible, all with satisfying, high quality. The total population of 227 patients included 63 with DLB and 164 with other diseases (Alzheimer disease, frontotemporal dementia, mild cognitive impairment). Using a univariate random-effects logistic regression model, our meta-analysis resulted in pooled sensitivity, specificity and DOR of 0.82 [0.62; 0.92], 0.79 [0.70; 0.86] and 16.26 ([3.3276; 79.4702], p = 0.0006), respectively, for scans with mixed field strength (1.5 and 3 T). Subgroup analysis of 3 T scans showed pooled sensitivity, specificity and DOR of 0.82 [0.61; 0.93], 0.82 [0.72; 0.89] and 18.36 ([4.24; 79.46], p < 0.0001), respectively.
DISCUSSION
DNH loss on iron-sensitive MRI might comprise a supportive biomarker for DLB detection, that could augment the value of the DLB diagnostic criteria. Further evaluation using standardized protocols is needed, as well as direct comparison to other supportive and indicative biomarkers.
PubMed: 38801432
DOI: 10.1007/s00415-024-12381-6 -
The Lancet. Infectious Diseases May 2024Targeted next-generation sequencing (NGS) can rapidly and simultaneously detect mutations associated with resistance to tuberculosis drugs across multiple gene targets....
BACKGROUND
Targeted next-generation sequencing (NGS) can rapidly and simultaneously detect mutations associated with resistance to tuberculosis drugs across multiple gene targets. The use of targeted NGS to diagnose drug-resistant tuberculosis, as described in publicly available data, has not been comprehensively reviewed. We aimed to identify targeted NGS assays that diagnose drug-resistant tuberculosis, determine how widely this technology has been used, and assess the diagnostic accuracy of these assays.
METHODS
In this systematic review and meta-analysis, we searched MEDLINE, Embase, Cochrane Library, Web of Science Core Collection, Global Index Medicus, Google Scholar, ClinicalTrials.gov, and the WHO International Clinical Trials Registry Platform for published and unpublished reports on targeted NGS for drug-resistant tuberculosis from Jan 1, 2005, to Oct 14, 2022, with updates to our search in Embase and Google Scholar until Feb 13, 2024. Studies eligible for the systematic review described targeted NGS approaches to predict drug resistance in Mycobacterium tuberculosis infections using primary samples, reference strain collections, or cultured isolates from individuals with presumed or confirmed tuberculosis. Our search had no limitations on study type or language, although only reports in English, German, and French were screened for eligibility. For the meta-analysis, we included test accuracy studies that used any reference standard, and we assessed risk of bias using the Quality Assessment of Diagnostic Accuracy Studies-2 tool. The primary outcomes for the meta-analysis were sensitivity and specificity of targeted NGS to diagnose drug-resistant tuberculosis compared to phenotypic and genotypic drug susceptibility testing. We used a Bayesian bivariate model to generate summary receiver operating characteristic plots and diagnostic accuracy measures, overall and stratified by drug and sample type. This study is registered with PROSPERO, CRD42022368707.
FINDINGS
We identified and screened 2920 reports, of which 124 were eligible for our systematic review, including 37 review articles and 87 reports of studies collecting samples for targeted NGS. Sequencing was mainly done in the USA (14 [16%] of 87), western Europe (ten [11%]), India (ten [11%]), and China (nine [10%]). We included 24 test accuracy studies in the meta-analysis, in which 23 different tuberculosis drugs or drug groups were assessed, covering first-line drugs, injectable drugs, and fluoroquinolones and predominantly comparing targeted NGS with phenotypic drug susceptibility testing. The combined sensitivity of targeted NGS across all drugs was 94·1% (95% credible interval [CrI] 90·9-96·3) and specificity was 98·1% (97·0-98·9). Sensitivity for individual drugs ranged from 76·5% (52·5-92·3) for capreomycin to 99·1% (98·3-99·7) for rifampicin; specificity ranged from 93·1% (88·0-96·3) for ethambutol to 99·4% (98·3-99·8) for amikacin. Diagnostic accuracy was similar for primary clinical samples and culture isolates overall and for rifampicin, isoniazid, ethambutol, streptomycin, and fluoroquinolones, and similar after excluding studies at high risk of bias (overall sensitivity 95·2% [95% CrI 91·7-97·1] and specificity 98·6% [97·4-99·3]).
INTERPRETATION
Targeted NGS is highly sensitive and specific for detecting drug resistance across panels of tuberculosis drugs and can be performed directly on clinical samples. There is a paucity of data on performance for some currently recommended drugs. The barriers preventing the use of targeted NGS to diagnose drug-resistant tuberculosis in high-burden countries need to be addressed.
FUNDING
National Institutes of Allergy and Infectious Diseases and Swiss National Science Foundation.
PubMed: 38795712
DOI: 10.1016/S1473-3099(24)00263-9 -
International Journal of Molecular... May 2024Sickle cell nephropathy (SCN) is a common complication of sickle cell disease (SCD) that significantly contributes to morbidity and mortality. In addition to clinical... (Review)
Review
Sickle cell nephropathy (SCN) is a common complication of sickle cell disease (SCD) that significantly contributes to morbidity and mortality. In addition to clinical and life-style factors, genetic variants influence this risk. We performed a systematic review, searching five databases. Studies evaluating the effect of genetic modifiers on SCN were eligible. Twenty-eight studies (fair-to-good quality) were included: one genome-wide association study, twenty-six case-control studies, and one article combining both approaches. was significantly associated with albuminuria and hyperfiltration in children and with worse glomerular filtration in adults. On the other hand, alpha-thalassemia protected patients against albuminuria and hyperfiltration, while variants were protective against albuminuria alone. The long GT-tandem repeat polymorphism led to a lower glomerular filtration rate. No modifiers for the risk of hyposthenuria were identified. A genome-wide association approach identified three new loci for proteinuria (, , and ) and nine loci were linked with eGFR (, , , , , , , , and ). In conclusion, this systematic review supports the role of genetic modifiers in influencing the risk and progression of SCN. Incorporating and expanding this knowledge is crucial to improving the management and clinical outcomes of patients at risk.
Topics: Humans; Anemia, Sickle Cell; Genome-Wide Association Study; Genetic Predisposition to Disease; Kidney Diseases; Apolipoprotein L1; Disease Progression; Genes, Modifier; Glomerular Filtration Rate
PubMed: 38791464
DOI: 10.3390/ijms25105427 -
Life Sciences Jul 2024Here, we present a systematic review that compiles in vivo experimental data regarding the effect of the WD on the gut microbiota and its impact on the circadian rhythm.... (Review)
Review
AIMS
Here, we present a systematic review that compiles in vivo experimental data regarding the effect of the WD on the gut microbiota and its impact on the circadian rhythm. Additionally, we reviewed studies evaluating the combined effects of WD and circadian cycle disruption on gut microbiota and circadian cycle markers.
MATERIALS AND METHODS
The original studies indexed in PubMed/Medline, Scopus, and Web of Science databases were screened according to the PRISMA strategy.
KEY FINDINGS
Preclinical studies revealed that WD triggers circadian rhythmicity disruption, reduces the alpha-diversity of the microbiota and favors the growth of bacterial groups that are detrimental to intestinal homeostasis, such as Clostridaceae, Enterococcus, Parasutterella and Proteobacteria. When the WD is combined with circadian clock disruption, gut dysbiosis become more pronounced. Reduced cycling of Per3, Rev-erb and CLOCK in the intestine, which are related to dysregulation of lipid metabolism and potential metabolic disease, was observed.
SIGNIFICANCE
In conclusion, current evidence supports the potential of WD to trigger microbiota dysregulation, disrupt the biological clock, and increase susceptibility to metabolic disorders and potentially chronic diseases.
Topics: Gastrointestinal Microbiome; Circadian Rhythm; Animals; Humans; Diet, Western; Dysbiosis; Metabolic Diseases
PubMed: 38788974
DOI: 10.1016/j.lfs.2024.122741 -
F1000Research 2024Previous studies have linked genetics to knee osteoarthritis. Angiotensin-converting enzyme (ACE) gene I/D polymorphism may cause OA. However, evidence remains... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Previous studies have linked genetics to knee osteoarthritis. Angiotensin-converting enzyme (ACE) gene I/D polymorphism may cause OA. However, evidence remains inconsistent. This study examines knee OA risk and ACE gene I/D polymorphism.
METHODS
We explored Europe PMC, Medline, Scopus, and Cochrane Library using keywords. Three assessment bias factors were assessed using the Newcastle-Ottawa Scale (NOS). Criteria for inclusion: (1) Split the study population into knee OA patients and healthy controls; (2) Analysed the ACE gene I/D polymorphism; (3) Case-control or cross-sectional surveys. Studies with non-knee OA, incomplete data, and no full-text were excluded. The odds ratio (OR) and 95% confidence intervals (95% CI) were calculated using random-effect models.
RESULTS
A total of 6 case-control studies consist of 1,226 patients with knee OA and 1,145 healthy subjects as controls were included. Our pooled analysis revealed that a significant association between ACE gene I/D polymorphism and risk of knee OA was only seen in the dominant (DD + ID vs. II) [OR 1.69 (95% CI 1.14 - 2.50), p = 0.009, I2 = 72%], and ID vs. II [OR 1.37 (95% CI 1.01- 1.86), p = 0.04, I2 = 43%] genotype models. Other genotype models, including recessive (DD vs. ID + II), alleles (D vs. I), DD vs. ID, and DD vs. II models did not show a significant association with knee OA risk. Further regression analysis revealed that ethnicity and sex may influence those relationships in several genotype models.
CONCLUSIONS
Dominant and ID vs. II ACE gene I/D polymorphism models increased knee OA risk significantly. More research with larger samples and different ethnic groups is needed to confirm our findings. After ethnicity subgroup analysis, some genetic models in our study showed significant heterogeneities, and most studies are from Asian countries with Asian populations, with little evidence on Arabs.
Topics: Humans; Case-Control Studies; Genetic Association Studies; Genetic Predisposition to Disease; INDEL Mutation; Osteoarthritis, Knee; Peptidyl-Dipeptidase A; Polymorphism, Genetic; Risk Factors
PubMed: 38779312
DOI: 10.12688/f1000research.140233.1 -
Molecular Diagnosis & Therapy Jul 2024Psoriasis is a chronic, inflammatory, T-cell-mediated disease with a multifactorial pathogenesis. MicroRNA (miRNA) alteration in psoriasis has been identified within the... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Psoriasis is a chronic, inflammatory, T-cell-mediated disease with a multifactorial pathogenesis. MicroRNA (miRNA) alteration in psoriasis has been identified within the last few years. In particular, miR-146a levels were altered. However, previous studies have equivocal or even contradictory findings.
OBJECTIVE
The current study aimed to perform a systematic review and meta-analysis to evaluate the miRNA expression profile in different tissues in patients with psoriasis. Further, the correlation between miR-146a levels and psoriasis severity as well as the specific expression patterns of the miR-146a profile in patients with psoriasis after treatment were evaluated.
METHODS
To retrieve studies investigating the correlation between miRNA and psoriasis, a comprehensive search of databases including PubMed, Cochrane Library, and Embase was performed from inception to 30 June 2023. Relevant journals and references of the included studies were also reviewed. A meta-analysis was conducted using the comprehensive meta-analysis version 3.
RESULTS
The correlation between the miR-146a expression levels and psoriasis susceptibility in 14 studies was assessed. Results showed that the miR-146a expression level was upregulated in psoriasis samples [P = 0.001, standardized mean difference (SMD) = 1.489, 95% confidence interval (CI) = 0.618-2.360]. In a subgroup analysis based on sample type, the correlation between the peripheral blood mononuclear cell, blood, and tissue miR-146a expression level and psoriasis was significant (SMD = 1.293, 95% CI 0.310-2.276, P = 0.01; SMD = 2.526, 95% CI 1.710-3.342, P = 0.000; SMD = 3.153, 95% CI 1.432-4.874, P = 0.00, respectively). A positive correlation was observed between the miR-146a expression levels and Psoriasis Area and Severity Index (PASI) score. However, the result was not statistically significant (correlation coefficient = 0.29, 95% CI - 0.038 to 0.575, P = 0.081). Further, the miR-146a levels decreased after treatment (SMD = - 1.592, 95% CI - 2.067 to - 1.117, P = 0.000, I = 74.104).
CONCLUSIONS
The miR-146a expression level is positively correlated with and can contribute to the pathobiology of psoriasis.
Topics: Psoriasis; Humans; MicroRNAs; Gene Expression Regulation; Biomarkers; Gene Expression Profiling; Severity of Illness Index
PubMed: 38773009
DOI: 10.1007/s40291-024-00714-0