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Genetics in Medicine : Official Journal... Jan 2024Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
Genetic counseling (GC) is standard of care in genetic cancer risk assessment (GCRA). A rigorous assessment of the data reported from published studies is crucial to ensure the evidence-based implementation of GC.
METHODS
We conducted a systematic review and meta-analysis of 17 patient-reported and health-services-related outcomes associated with pre- and post-test GC in GCRA in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and Grading of Recommendations Assessment, Development and Evaluation (GRADE) methodology.
RESULTS
Twenty-five of 5393 screened articles met inclusion criteria. No articles reporting post-test GC outcomes met inclusion criteria. For patient-reported outcomes, pre-test GC significantly decreased worry, increased knowledge, and decreased perceived risk but did not significantly affect patient anxiety, depression, decisional conflict, satisfaction, or intent to pursue genetic testing. For health-services outcomes, pre-test GC increased correct genetic test ordering, reduced inappropriate services, increased spousal support for genetic testing, and expedited care delivery but did not consistently improve cancer prevention behaviors nor lead to accurate risk assessment. The GRADE certainty in the evidence was very low or low. No included studies elucidated GC effect on mortality, cascade testing, cost-effectiveness, care coordination, shared decision making, or patient time burden.
CONCLUSION
The true impact of GC on relevant outcomes is not known low quality or absent evidence. Although a meta-analysis found that pre-test GC had beneficial effects on knowledge, worry, and risk perception, the certainty of this evidence was low according to GRADE methodology. Further studies are needed to support the evidence-based application of GC in GCRA.
Topics: Humans; Genetic Counseling; Neoplasms; Genetic Testing
PubMed: 37688462
DOI: 10.1016/j.gim.2023.100980 -
Frontiers in Endocrinology 2023Preimplantation genetic testing for aneuploidy (PGT-A) is an emerging technology that aims to identify euploid embryos for transfer, reducing the risk of embryonic... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Preimplantation genetic testing for aneuploidy (PGT-A) is an emerging technology that aims to identify euploid embryos for transfer, reducing the risk of embryonic chromosomal abnormalities. However, the clinical benefits of PGT-A in recurrent pregnancy failure (RPF) patients, particularly in young RPF patients, remains uncertain.
OBJECTIVE AND RATIONALE
This meta-analysis aimed to determine whether RPF patients undergoing PGT-A had better clinical outcomes compared to those not undergoing PGT-A, thus assessing the value of PGT-A in clinical practice.
SEARCH METHODS
We systematically searched PubMed, the Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang Data, and VIP Database for Chinese Technical Periodicals (VIP) from 2002 to 2022. Thirteen published studies involving 930 RPF patients screened using PGT-A and over 1,434 RPF patients screened without PGT-A were included in this meta-analysis. Clinical outcomes were evaluated based on embryo transfers after PGT-A (n=1,015) and without PGT-A (n=1,799).
CLINICAL OUTCOMES
The PGT-A group demonstrated superior clinical outcomes compared to the fertilization (IVF)/intracytoplasmic sperm injection (ICSI) group. The PGT-A group had a significantly higher implantation rate (IR) (RR=2.01, 95% CI: [1.73; 2.34]), clinical pregnancy rate (CPR) (RR=1.53, 95% CI: [1.36; 1.71]), ongoing pregnancy rate (OPR) (RR=1.76, 95% CI: [1.35; 2.29]), live birth rate (LBR) (RR=1.75, 95% CI: [1.51; 2.03]), and significantly lower clinical miscarriage rate (CMR) (RR=0.74, 95% CI: [0.54; 0.99]). Subgroup analysis based on patient age (under 35 years and 35 years or older) showed that both PGT-A subgroups had significantly better CPR (P<0.01) and LBR (P<0.05) values compared to the IVF/ICSI groups.
SUMMARY
This meta-analysis demonstrates that PGT-A in RPF patients, is associated with improved clinical outcomes, including higher IR, CPR, OPR, and LBR values, and lower CMR compared to the IVF/ICSI group. These findings support the positive clinical application of PGT-A in RPF patients.
SYSTEMATIC REVIEW REGISTRATION
http://INPLASY.com, identifier INPLASY 202320118.
Topics: Pregnancy; Female; Humans; Male; Adult; Preimplantation Diagnosis; Semen; Genetic Testing; Fertilization in Vitro; Abortion, Spontaneous; Aneuploidy
PubMed: 37850092
DOI: 10.3389/fendo.2023.1178294 -
Cerebellum (London, England) Nov 2023Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing... (Review)
Review
Next-generation sequencing (NGS), comprising targeted panels (TP), exome sequencing (ES), and genome sequencing (GS) became robust clinical tools for diagnosing hereditary ataxia (HA). Determining their diagnostic yield (DY) is crucial for optimal clinical decision-making. We conducted a comprehensive systematic literature review on the DY of NGS tests for HA. We searched PubMed and Embase databases for relevant studies between 2016 and 2022 and manually examined reference lists of relevant reviews. Eligible studies described the DY of NGS tests in patients with ataxia as a significant feature. Data from 33 eligible studies showed a median DY of 43% (IQR = 9.5-100%). The median DY for TP and ES was 46% and 41.9%, respectively. Higher DY was associated with specific phenotype selection, such as episodic ataxia at 68.35% and early and late onset of ataxia at 46.4% and 54.4%. Parental consanguinity had a DY of 52.4% (p = 0.009), and the presumed autosomal recessive (AR) inheritance pattern showed 62.5%. There was a difference between the median DY of studies that performed targeted sequencing (tandem repeat expansion, TRE) screening and those that did not (p = 0.047). A weak inverse correlation was found between DY and the extent of previous genetic investigation (rho = - 0.323; p = 0.065). The most common genes were CACNA1A and SACS. DY was higher for presumed AR inheritance pattern, positive family history, and parental consanguinity. ES appears more advantageous due to the inclusion of rare genes that might be excluded in TP.
PubMed: 37950147
DOI: 10.1007/s12311-023-01629-y -
International Journal of Molecular... Jun 2024A central role for neuroinflammation in epileptogenesis has recently been suggested by several investigations. This systematic review explores the role of inflammatory... (Review)
Review
A central role for neuroinflammation in epileptogenesis has recently been suggested by several investigations. This systematic review explores the role of inflammatory mediators in epileptogenesis, its association with seizure severity, and its correlation with drug-resistant epilepsy (DRE). The study analysed articles published in JCR journals from 2019 to 2024. The search strategy comprised the MESH, free terms of "Neuroinflammation", and selective searches for the following single biomarkers that had previously been selected from the relevant literature: "High mobility group box 1/HMGB1", "Toll-Like-Receptor 4/TLR-4", "Interleukin-1/IL-1", "Interleukin-6/IL-6", "Transforming growth factor beta/TGF-β", and "Tumour necrosis factor-alpha/TNF-α". These queries were all combined with the MESH terms "Epileptogenesis" and "Epilepsy". We found 243 articles related to epileptogenesis and neuroinflammation, with 356 articles from selective searches by biomarker type. After eliminating duplicates, 324 articles were evaluated, with 272 excluded and 55 evaluated by the authors. A total of 21 articles were included in the qualitative evaluation, including 18 case-control studies, 2 case series, and 1 prospective study. As conclusion, this systematic review provides acceptable support for five biomarkers, including TNF-α and some of its soluble receptors (sTNFr2), HMGB1, TLR-4, CCL2 and IL-33. Certain receptors, cytokines, and chemokines are examples of neuroinflammation-related biomarkers that may be crucial for the early diagnosis of refractory epilepsy or may be connected to the control of epileptic seizures. Their value will be better defined by future studies.
Topics: Humans; Biomarkers; Neuroinflammatory Diseases; HMGB1 Protein; Epilepsy; Cytokines; Toll-Like Receptor 4; Drug Resistant Epilepsy
PubMed: 38928193
DOI: 10.3390/ijms25126488 -
Genes Apr 2024Neurofilament proteins have been implicated to be altered in amyotrophic lateral sclerosis (ALS). The objectives of this study were to assess the diagnostic and... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Neurofilament proteins have been implicated to be altered in amyotrophic lateral sclerosis (ALS). The objectives of this study were to assess the diagnostic and prognostic utility of neurofilaments in ALS.
METHODS
Studies were conducted in electronic databases (PubMed/MEDLINE, Embase, Web of Science, and Cochrane CENTRAL) from inception to 17 August 2023, and investigated neurofilament light (NfL) or phosphorylated neurofilament heavy chain (pNfH) in ALS. The study design, enrolment criteria, neurofilament concentrations, test accuracy, relationship between neurofilaments in cerebrospinal fluid (CSF) and blood, and clinical outcome were recorded. The protocol was registered with PROSPERO, CRD42022376939.
RESULTS
Sixty studies with 8801 participants were included. Both NfL and pNfH measured in CSF showed high sensitivity and specificity in distinguishing ALS from disease mimics. Both NfL and pNfH measured in CSF correlated with their corresponding levels in blood (plasma or serum); however, there were stronger correlations between CSF NfL and blood NfL. NfL measured in blood exhibited high sensitivity and specificity in distinguishing ALS from controls. Both higher levels of NfL and pNfH either measured in blood or CSF were correlated with more severe symptoms as assessed by the ALS Functional Rating Scale Revised score and with a faster disease progression rate; however, only blood NfL levels were associated with shorter survival.
DISCUSSION
Both NfL and pNfH measured in CSF or blood show high diagnostic utility and association with ALS functional scores and disease progression, while CSF NfL correlates strongly with blood (either plasma or serum) and is also associated with survival, supporting its use in clinical diagnostics and prognosis. Future work must be conducted in a prospective manner with standardized bio-specimen collection methods and analytical platforms, further improvement in immunoassays for quantification of pNfH in blood, and the identification of cut-offs across the ALS spectrum and controls.
Topics: Amyotrophic Lateral Sclerosis; Humans; Neurofilament Proteins; Biomarkers; Intermediate Filaments; Prognosis
PubMed: 38674431
DOI: 10.3390/genes15040496 -
Journal of Translational Medicine Jun 2024Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating illness medically unexplained, affecting approximately 1% of the global population. Due to... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating illness medically unexplained, affecting approximately 1% of the global population. Due to the subjective complaint, assessing the exact severity of fatigue is a clinical challenge, thus, this study aimed to produce comprehensive features of fatigue severity in ME/CFS patients.
METHODS
We systematically extracted the data for fatigue levels of participants in randomized controlled trials (RCTs) targeting ME/CFS from PubMed, Cochrane Library, Web of Science, and CINAHL throughout January 31, 2024. We normalized each different measurement to a maximum 100-point scale and performed a meta-analysis to assess fatigue severity by subgroups of age, fatigue domain, intervention, case definition, and assessment tool, respectively.
RESULTS
Among the total of 497 relevant studies, 60 RCTs finally met our eligibility criteria, which included a total of 7088 ME/CFS patients (males 1815, females 4532, and no information 741). The fatigue severity of the whole 7,088 patients was 77.9 (95% CI 74.7-81.0), showing 77.7 (95% CI 74.3-81.0) from 54 RCTs in 6,706 adults and 79.6 (95% CI 69.8-89.3) from 6 RCTs in 382 adolescents. Regarding the domain of fatigue, 'cognitive' (74.2, 95% CI 65.4-83.0) and 'physical' fatigue (74.3, 95% CI 68.3-80.3) were a little higher than 'mental' fatigue (70.1, 95% CI 64.4-75.8). The ME/CFS participants for non-pharmacological intervention (79.1, 95% CI 75.2-83.0) showed a higher fatigue level than those for pharmacological intervention (75.5, 95% CI 70.0-81.0). The fatigue levels of ME/CFS patients varied according to diagnostic criteria and assessment tools adapted in RCTs, likely from 54.2 by ICC (International Consensus Criteria) to 83.6 by Canadian criteria and 54.2 by MFS (Mental Fatigue Scale) to 88.6 by CIS (Checklist Individual Strength), respectively.
CONCLUSIONS
This systematic review firstly produced comprehensive features of fatigue severity in patients with ME/CFS. Our data will provide insights for clinicians in diagnosis, therapeutic assessment, and patient management, as well as for researchers in fatigue-related investigations.
Topics: Humans; Fatigue Syndrome, Chronic; Randomized Controlled Trials as Topic; Fatigue; Severity of Illness Index; Male; Female; Adult; Middle Aged
PubMed: 38831460
DOI: 10.1186/s12967-024-05349-7 -
European Geriatric Medicine Dec 2023There is a scarcity of summarizing data on the epidemiology of insomnia in older persons, especially when diagnosed with international criteria. This study aimed to... (Meta-Analysis)
Meta-Analysis Review
PURPOSE
There is a scarcity of summarizing data on the epidemiology of insomnia in older persons, especially when diagnosed with international criteria. This study aimed to estimate the prevalence and correlates of insomnia disorder in older persons, according to the Diagnostic and Statistical Manual of Mental Disorders (DSM).
METHODS
Through PubMed/MEDLINE, EMBASE, and Web of Science (WoS), we searched for relevant articles published before June 28, 2023. The risk of bias was weighed using the Joanna Briggs Institute's (JBI's) critical appraisal checklist for studies reporting prevalence data. For our analyses, we used a random-effect model, with subgroup analyses, meta-regression, and sensitivity analyses to explore potential sources of heterogeneity. We followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses statement.
RESULTS
We included 18,270 participants across 16 studies. The male/female ratio was 0.89 (12 studies), and the mean age varied from 65.9 to 83.1 years (8 studies). The pooled prevalence of insomnia was 19.6% (95% CI = [12.3%; 28.3%]), with substantial heterogeneity. This prevalence fluctuated according to the sample size, the minimal age for inclusion, and the study quality, considering that the risk of bias was moderate for most of studies. There was a publication bias, with a very low level of certainty. Insomnia disorder was associated with the female gender, depression, anxiety, and somatic illnesses notably cardiovascular, respiratory, and painful ones.
CONCLUSION
Nearly one in every five old individuals was considered to have insomnia disorder, which was associated with the gender and the existence of mental health and/or somatic conditions.
REGISTRATION
We registered the protocol in the International Prospective Register of Systematic Reviews (PROSPERO) with registration number: CRD42022344675.
Topics: Humans; Male; Female; Aged; Aged, 80 and over; Sleep Initiation and Maintenance Disorders; Diagnostic and Statistical Manual of Mental Disorders; Mental Health
PubMed: 37725311
DOI: 10.1007/s41999-023-00862-2 -
Brain Sciences Aug 2023Social cognition has a broad theoretical definition, which includes the ability to mentalise, i.e., recognise and infer mental states to explain and predict another's... (Review)
Review
Social cognition has a broad theoretical definition, which includes the ability to mentalise, i.e., recognise and infer mental states to explain and predict another's behaviour. There is growing recognition of the clinical, diagnostic, and prognostic value of assessing a person's ability to perform social cognitive tasks, particularly aspects of theory of mind, such as mentalising. One such measure of mentalising is the 'Reading the Mind in the Eyes' test (RMET). This systematic review and meta-analysis consider performance on the RMET, applied to people with neurodegenerative conditions in matched control studies, since its publication in 2001. Overall, this review includes 22 papers with data from N = 800 participants with neurodegenerative conditions: Alzheimer's disease, = 31; Parkinson's disease, = 221; Lewy body dementia, = 33; motor neuron disease, = 218; Huntington's disease = 80; multiple sclerosis, = 217; and N = 601 matched typical controls. Our meta-analyses show that deficits in mentalising, as measured by the RMET, are consistently reported across neurodegenerative conditions, with participants in both early and late disease stages being affected. Social cognition is an emerging field of cognitive neuroscience requiring specific and sensitive measurement across each subdomain. Adult-based meta-normative data feature, for which future groups or individuals could be compared against, and hypotheses relating to the source of these mentalising deficits are further discussed. This review was registered with PROSPERO (CRD42020182874).
PubMed: 37759869
DOI: 10.3390/brainsci13091268 -
Nutrition (Burbank, Los Angeles County,... Mar 2024The aim of this scoping review was to characterize the diagnostic criteria, their cutoff values, and the prevalence of cachexia in Asians. We systematically reviewed... (Review)
Review
The aim of this scoping review was to characterize the diagnostic criteria, their cutoff values, and the prevalence of cachexia in Asians. We systematically reviewed studies involving Asian adult patients with cachexia due to cancer and chronic diseases other than cancer, such as heart and renal failure. Sources in English and Japanese published between December 2008 and April 2022, including observational, longitudinal, cross-sectional, and clinical trials, were examined. We searched six databases. Altogether, 4131 studies were screened, and 107 eligible articles were identified, of which 11 and 96 were conducted on non-cancer and cancer patients, respectively. The most common clinical indicators used for diagnosis were weight loss, body mass index (BMI), and muscle mass. The most frequently employed diagnostic criteria for cachexia in non-cancer patients were the modified/excerpt Evans criteria. Contrarily, the original Fearon's criteria were often used in patients with cancer. Additionally, cutoff values for BMI and muscle mass affected by racial anthropometric differences were investigated. The mean or median value of BMI ranges were 18.3 to 25.2 and 17.5 to 25 kg/m for non-cancer and cancer patients, respectively. The prevalence rates of cachexia were 3.4% to 66.2% and 6.2% to 93% in non-cancer and cancer patients, respectively. Several diagnostic criteria, such as BMI and muscle mass, have been used, which are affected by racial differences in body size. However, few studies have used cutoff values for Asians.
Topics: Adult; Humans; Cachexia; Prevalence; Cross-Sectional Studies; Neoplasms; Weight Loss; Sarcopenia
PubMed: 38113614
DOI: 10.1016/j.nut.2023.112301 -
Addiction (Abingdon, England) Dec 2023Craving is central in the definition of addictive disorders because of its diagnostic and prognostic value. Its measurement is essential in clinical practice. Previous... (Review)
Review
BACKGROUND AND AIMS
Craving is central in the definition of addictive disorders because of its diagnostic and prognostic value. Its measurement is essential in clinical practice. Previous reviews provided a better overview of existing instruments; however, they do not consider emerging substances and behaviors such as sexual addictions. Our objectives were threefold: (1) to provide a systematic review of craving assessment instruments and their psychometric characteristics within a transdiagnostic approach, (2) to highlight and map their conceptual relationships and (3) to identify potential sexual craving assessment instruments.
METHODS
The review was conducted using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology. The PubMed, Embase, PsychInfo and Cochrane/Central databases were searched for publications that met the following inclusion criterion: validation studies of craving assessment instruments, regardless of target substance or behavior. The original search identified 4561 references and included 147 articles. Each selected study was a peer-reviewed publication.
RESULTS
This review provides a synthesis of the psychometric properties of 36 original instruments and identified 93 variations of these instruments (e.g. translations). We were able to highlight five transdiagnostic families of instruments, each corresponding to a conceptual model. Only one instrument for assessing craving in the domain of compulsive sexual behavior, focused on pornography use, has been identified: the Pornography Craving Questionnaire.
CONCLUSION
This review mapped all craving assessment instruments from a transdiagnostic perspective, finding 36 original instruments and 93 variations. The evolution of instruments to measure craving mirrors the evolution of the concept of craving which has progressively integrated cognitive, conditioning and sensory dimensions, and attests to the importance of the context of assessment. Development of an instrument to measure 'sexual craving' is needed and could be based on the data from our review.
Topics: Humans; Craving; Sexual Behavior; Behavior, Addictive; Compulsive Behavior; Surveys and Questionnaires; Psychometrics
PubMed: 37493019
DOI: 10.1111/add.16287