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Translational Psychiatry Jun 2024Mapping brain-behaviour associations is paramount to understand and treat psychiatric disorders. Standard approaches involve investigating the association between one... (Review)
Review
Mapping brain-behaviour associations is paramount to understand and treat psychiatric disorders. Standard approaches involve investigating the association between one brain and one behavioural variable (univariate) or multiple variables against one brain/behaviour feature ('single' multivariate). Recently, large multimodal datasets have propelled a new wave of studies that leverage on 'doubly' multivariate approaches capable of parsing the multifaceted nature of both brain and behaviour simultaneously. Within this movement, canonical correlation analysis (CCA) and partial least squares (PLS) emerge as the most popular techniques. Both seek to capture shared information between brain and behaviour in the form of latent variables. We provide an overview of these methods, review the literature in psychiatric disorders, and discuss the main challenges from a predictive modelling perspective. We identified 39 studies across four diagnostic groups: attention deficit and hyperactive disorder (ADHD, k = 4, N = 569), autism spectrum disorders (ASD, k = 6, N = 1731), major depressive disorder (MDD, k = 5, N = 938), psychosis spectrum disorders (PSD, k = 13, N = 1150) and one transdiagnostic group (TD, k = 11, N = 5731). Most studies (67%) used CCA and focused on the association between either brain morphology, resting-state functional connectivity or fractional anisotropy against symptoms and/or cognition. There were three main findings. First, most diagnoses shared a link between clinical/cognitive symptoms and two brain measures, namely frontal morphology/brain activity and white matter association fibres (tracts between cortical areas in the same hemisphere). Second, typically less investigated behavioural variables in multivariate models such as physical health (e.g., BMI, drug use) and clinical history (e.g., childhood trauma) were identified as important features. Finally, most studies were at risk of bias due to low sample size/feature ratio and/or in-sample testing only. We highlight the importance of carefully mitigating these sources of bias with an exemplar application of CCA.
Topics: Humans; Brain; Mental Disorders; Autism Spectrum Disorder; Depressive Disorder, Major; Canonical Correlation Analysis; Attention Deficit Disorder with Hyperactivity; Least-Squares Analysis
PubMed: 38824172
DOI: 10.1038/s41398-024-02954-4 -
BMC Public Health May 2024Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Screening for sickle cell traits before marriage or producing children is one of the outstanding preventive measures for sickle cell disease (SCD).The disease is a collection of inherited blood disorders that impact millions globally, with a predominant 75% occurrence in the sub-Saharan region. With increasing burden of SCD on the continent amidst a cost effective prevention method, no study has systematically reviewed or presented meta-analytic uptake or practice of premarital sickle cell trait screening.
METHODS
This review systematically explored the uptake or practice of premarital genotype screening in Africa. We searched PubMed and Scopus databases for African studies on premarital screening for sickle cell traits.
RESULTS
Our results indicate that the pooled uptake of premarital sickle cell trait screening in Africa is 47.82% (95% CI: [46.53-49.11]; I: 98.95% [98.74-99.13]). Our review observed, a significant relationship between the awareness of sickle cell disease and the uptake of genotype screening; F(1, 13) = 12.04, p = 0.004). The model explained approximately 48.08% of the variation in genotype screening (R² = 0.4808) and predicted a 0.729 increase in the likelihood of genotype screening uptake for every unit rise in sickle cell disease awareness (β = 0.729, p = 0.004). Additionally, Pearson correlation (r = 0.6934) indicated a moderately strong positive correlation between the two variables.
CONCLUSION
With over 75% of the global burden of sickle cell disease domiciled in Africa, the continent cannot overlook the cost of hemoglobinopathies. The uptake of sickle cell traits screening is suboptimal across the continent. To achieve the mandate of sustainable development goal number (3); to end preventable deaths of newborns and children under 5 years of age by 2030, there is need to intensify campaigns on premarital genetic screening through education and other health promotion tools.
Topics: Humans; Sickle Cell Trait; Africa; Anemia, Sickle Cell; Premarital Examinations; Mass Screening; Genetic Testing
PubMed: 38822327
DOI: 10.1186/s12889-024-19001-y -
PloS One 2024Despite improvements, the prevalence of HIV, syphilis, and hepatitis B remains high in Asia. These sexually transmitted infections (STIs) can be transmitted from...
A systematic review of barriers and facilitators to antenatal screening for HIV, syphilis or hepatitis B in Asia: Perspectives of pregnant women, their relatives and health care providers.
BACKGROUND
Despite improvements, the prevalence of HIV, syphilis, and hepatitis B remains high in Asia. These sexually transmitted infections (STIs) can be transmitted from infected mothers to their children. Antenatal screening and treatment are effective interventions to prevent mother-to-child transmission (MTCT), but coverage of antenatal screening remains low. Understanding factors influencing antenatal screening is essential to increase its uptake and design effective interventions. This systematic literature review aims to investigate barriers and facilitators to antenatal screening for HIV, syphilis, and hepatitis B in Asia.
METHODS
We conducted a systematic review by searching Ovid (MEDLINE, Embase, PsycINFO), Scopus, Global Index Medicus and Web of Science for published articles between January 2000 and June 2023, and screening abstracts and full articles. Eligible studies include peer-reviewed journal articles of quantitative, qualitative and mixed-method studies that explored factors influencing the use of antenatal screening for HIV, syphilis or hepatitis B in Asia. We extracted key information including study characteristics, sample, aim, identified barriers and facilitators to screening. We conducted a narrative synthesis to summarise the findings and presented barriers and facilitators following Andersen's conceptual model.
RESULTS
The literature search revealed 23 articles suitable for inclusion, 19 used quantitative methods, 3 qualitative and one mixed method. We found only three studies on syphilis screening and one on hepatitis B. The analysis demonstrates that antenatal screening for HIV in Asia is influenced by many barriers and facilitators including (1) predisposing characteristics of pregnant women (age, education level, knowledge) (2) enabling factors (wealth, place of residence, husband support, health facilities characteristics, health workers support and training) (3) need factors of pregnant women (risk perception, perceived benefits of screening).
CONCLUSION
Knowledge of identified barriers to antenatal screening may support implementation of appropriate interventions to prevent MTCT and help countries achieve Sustainable Development Goals' targets for HIV and STIs.
Topics: Humans; Female; Hepatitis B; Pregnancy; Syphilis; HIV Infections; Prenatal Diagnosis; Asia; Pregnancy Complications, Infectious; Infectious Disease Transmission, Vertical; Health Personnel; Pregnant Women; Mass Screening; Family
PubMed: 38820339
DOI: 10.1371/journal.pone.0300581 -
The Medical Journal of Malaysia May 2024Thalassaemia has been prevalent with high morbidity and mortality rates since 1925. Although there is a lack of systematic review on the costs of prevention that has...
INTRODUCTION
Thalassaemia has been prevalent with high morbidity and mortality rates since 1925. Although there is a lack of systematic review on the costs of prevention that has yielded reductions in thalassaemia prevalence, this review will show a widespread presence of complex but effective strategies in reducing national thalassaemia prevalence.
MATERIALS AND METHODS
A systematic search was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA 2020). Designated keywords were combined with search functions and Boolean operators in databases like Scopus, Web of Science and several other search databases.
RESULTS
The search identifed 5425 potential articles. Most countries reported a decline in thalassaemia prevalence after implementing intervention programmes for several decades. The screening methods, however, varies, and the speed of reductions depends on the type of screening approach that involves blood screening of adolescence and antenatal mothers and, in some countries, includes termination of pregnancy. In addition, the cost of these initiatives varies as it was challenging to find a common denominator. However, the endpoint concedes that the cost of screening, although substantial, would be offset by the cost of reduction of cases. In some countries, cost-effectiveness analyses have been reported to support the initiatives of thalassaemia screening and prevention in the long run.
CONCLUSION
The results showed significant variations in success rates with a significant reduction in the prevalence of Thalassaemia. Most successful are countries with comprehensive and aggressive prevention and control programmes that engaged with lab screening, counselling, and termination of pregnancy as a package.
Topics: Humans; Thalassemia; Pregnancy; Female; Mass Screening; Cost-Benefit Analysis; Prevalence; Prenatal Diagnosis
PubMed: 38817070
DOI: No ID Found -
BMC Psychiatry May 2024Coupled with its rising prevalence, Autism spectrum disorder (ASD) has become a globally recognized public health concern. Nevertheless, large-scale, multicenter studies... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Coupled with its rising prevalence, Autism spectrum disorder (ASD) has become a globally recognized public health concern. Nevertheless, large-scale, multicenter studies that analyze the epidemiology of ASD in China are relatively scarce.
METHODS
Literature searches were conducted in PubMed/Medline, Embase, the Cochrane Library, Wanfang Data Knowledge Service Platform, China Biology Medicine database (CBM), China Science and Technology Journal Database (CSTJ), and China National Knowledge Infrastructure (CNKI) to retrieve studies published before April 8, 2023, related to ASD prevalence among children aged 0 to 14 years in mainland China. Meta-analysis was conducted using RevMan 5.2 and Stata 14.0.
RESULTS
Twenty-one articles were included. The ASD prevalence among children in mainland China has been 0.7% (95% confidence interval(CI): 0.006-0.008) since 2017. The prevalence of ASD among boys was 1.0% (95% CI: 0.008-0.011), which was significantly higher than that among girls at 0.2% (95% CI: 0.002-0.003), with a statistically significant difference (OR = 3.198, 95% CI: 2.489-4.109, P = 0.000). Among the included studies, 18 reported an ASD prevalence of 0.8% (95% CI: 0.007-0.010), while 3 studies reported an autistic disorder (AD) prevalence of 0.7% (95% CI: 0.006-0.008). The prevalence of autism among urban children was 23.9% (95% CI: 0.149-0.328), and in rural areas, it was 0.7% (95% CI: 0.002-0.013), with no statistically significant difference (OR = 1.342, 95% CI: 0.258-6.975, P = 0.727). Regression analysis showed that factors such as region (P = 0.000), age (P = 0.000), study period (P = 0.000), sample size (P = 0.000), sampling method (P = 0.002), population source (P = 0.000), disease type (P = 0.000), quality score of the study (P = 0.000), and diagnostic criteria (P = 0.000) might have contributed to the heterogeneity in ASD prevalence.
CONCLUSION
The prevalence of ASD in China from 2017 to 2023 was 7/1000, showing an upward trend compared to that before 2017 (26.50/10,000). The male-to-female prevalence ratio was 5:1.The overall prevalence remained significantly lower than that reported in foreign countries.
Topics: Humans; Autism Spectrum Disorder; China; Prevalence; Child; Adolescent; Male; Child, Preschool; Female; Infant
PubMed: 38811881
DOI: 10.1186/s12888-024-05729-9 -
PLoS Medicine May 2024India accounts for about one-quarter of people contracting tuberculosis (TB) disease annually and nearly one-third of TB deaths globally. Many Indians do not navigate...
BACKGROUND
India accounts for about one-quarter of people contracting tuberculosis (TB) disease annually and nearly one-third of TB deaths globally. Many Indians do not navigate all care cascade stages to receive TB treatment and achieve recurrence-free survival. Guided by a population/exposure/comparison/outcomes (PECO) framework, we report findings of a systematic review to identify factors contributing to unfavorable outcomes across each care cascade gap for TB disease in India.
METHODS AND FINDINGS
We defined care cascade gaps as comprising people with confirmed or presumptive TB who did not: start the TB diagnostic workup (Gap 1), complete the workup (Gap 2), start treatment (Gap 3), achieve treatment success (Gap 4), or achieve TB recurrence-free survival (Gap 5). Three systematic searches of PubMed, Embase, and Web of Science from January 1, 2000 to August 14, 2023 were conducted. We identified articles evaluating factors associated with unfavorable outcomes for each gap (reported as adjusted odds, relative risk, or hazard ratios) and, among people experiencing unfavorable outcomes, reasons for these outcomes (reported as proportions), with specific quality or risk of bias criteria for each gap. Findings were organized into person-, family-, and society-, or health system-related factors, using a social-ecological framework. Factors associated with unfavorable outcomes across multiple cascade stages included: male sex, older age, poverty-related factors, lower symptom severity or duration, undernutrition, alcohol use, smoking, and distrust of (or dissatisfaction with) health services. People previously treated for TB were more likely to seek care and engage in the diagnostic workup (Gaps 1 and 2) but more likely to suffer pretreatment loss to follow-up (Gap 3) and unfavorable treatment outcomes (Gap 4), especially those who were lost to follow-up during their prior treatment. For individual care cascade gaps, multiple studies highlighted lack of TB knowledge and structural barriers (e.g., transportation challenges) as contributing to lack of care-seeking for TB symptoms (Gap 1, 14 studies); lack of access to diagnostics (e.g., X-ray), non-identification of eligible people for testing, and failure of providers to communicate concern for TB as contributing to non-completion of the diagnostic workup (Gap 2, 17 studies); stigma, poor recording of patient contact information by providers, and early death from diagnostic delays as contributing to pretreatment loss to follow-up (Gap 3, 15 studies); and lack of TB knowledge, stigma, depression, and medication adverse effects as contributing to unfavorable treatment outcomes (Gap 4, 86 studies). Medication nonadherence contributed to unfavorable treatment outcomes (Gap 4) and TB recurrence (Gap 5, 14 studies). Limitations include lack of meta-analyses due to the heterogeneity of findings and limited generalizability to some Indian regions, given the country's diverse population.
CONCLUSIONS
This systematic review illuminates common patterns of risk that shape outcomes for Indians with TB, while highlighting knowledge gaps-particularly regarding TB care for children or in the private sector-to guide future research. Findings may inform targeting of support services to people with TB who have higher risk of poor outcomes and inform multicomponent interventions to close gaps in the care cascade.
Topics: Humans; India; Tuberculosis; Health Services Accessibility; Treatment Outcome; Male
PubMed: 38805509
DOI: 10.1371/journal.pmed.1004409 -
Cureus Apr 2024This systematic review aimed to critically assess the effectiveness of mammography, ultrasound, and magnetic resonance imaging (MRI) in the detection of breast... (Review)
Review
This systematic review aimed to critically assess the effectiveness of mammography, ultrasound, and magnetic resonance imaging (MRI) in the detection of breast carcinoma within dense breast tissue. An exhaustive search of contemporary literature was undertaken, focusing on the diagnostic accuracy, false positive and negative rates, and clinical implications of the aforementioned imaging modalities. Each modality was assessed in isolation and side by side against the others to draw comparative inferences. While mammography remains a foundational imaging modality, its effectiveness waned within the context of dense breast tissue. Ultrasound demonstrated a strong differentiation prowess, especially among specific demographic cohorts. MRI, despite its exceptional precision and differentiation capabilities, exhibited a tendency for slightly elevated false positive rates. No single modality emerged as singularly superior for all cases. Instead, an integrated approach, combining the strengths of each modality based on individual patient profiles and clinical scenarios, is recommended. This tailored approach ensures optimized detection rates and minimizes diagnostic ambiguities, underscoring the significance of individualized patient care in the field of diagnostic radiology.
PubMed: 38800325
DOI: 10.7759/cureus.59054 -
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 -
Genes May 2024When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is... (Review)
Review
When stroke occurs in pediatric age, it might be mistakenly interpreted as non-accidental head injury (NAHI). In these situations, a multidisciplinary approach is fundamental, including a thorough personal and familial history, along with accurate physical examination and additional investigations. Especially when the clinical picture is uncertain, it is important to remember that certain genetic conditions can cause bleeding inside the brain, which may resemble NAHI. Pediatric strokes occurring around the time of birth can also be an initial sign of undiagnosed genetic disorders. Hence, it is crucial to conduct a thorough evaluation, including genetic testing, when there is a suspicion of NAHI but the symptoms are unclear. In these cases, a characteristic set of symptoms is often observed. This study aims to summarize some of the genetic causes of hemorrhagic stroke in the pediatric population, thus mimicking non-accidental head injury, considering elements that can be useful in characterizing pathologies. A systematic review of genetic disorders that may cause ICH in children was carried out according to the Preferred Reporting Item for Systematic Review (PRISMA) standards. We selected 10 articles regarding the main genetic diseases in stroke; we additionally selected 11 papers concerning patients with pediatric stroke and genetic diseases, or studies outlining the characteristics of stroke in these patients. The disorders we identified were Moyamoya disease (MMD), , pathogenic variant, Ehlers-Danlos syndrome (E-D), neurofibromatosis type 1 (Nf1), sickle cell disease (SCD), cerebral cavernous malformations (CCM), hereditary hemorrhagic telangiectasia (HHT) and Marfan syndrome. In conclusion, this paper provides a comprehensive overview of the genetic disorders that could be tested in children when there is a suspicion of NAHI but an unclear picture.
Topics: Humans; Hemorrhagic Stroke; Child, Preschool; Genetic Testing; Craniocerebral Trauma; Infant; Diagnosis, Differential
PubMed: 38790247
DOI: 10.3390/genes15050618 -
BMC Infectious Diseases May 2024Human papillomavirus (HPV) is increasingly recognized as a significant risk factor in the development of head and neck cancers (HNCs), with varying prevalence and... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Human papillomavirus (HPV) is increasingly recognized as a significant risk factor in the development of head and neck cancers (HNCs), with varying prevalence and impact. This study aims to systematically review and analyze the prevalence of HPV in HNCs in India, providing insights into regional variations.
METHODS
A comprehensive literature search was carried out using PubMed, Embase, and Web of Science up to November 10, 2023. Inclusion criteria focused on original research reporting HPV-positive cases among HNC patients in India. We used Nested-Knowledge software, for screening, and data extraction. The modified Newcastle-Ottawa Scale was used for quality assessment of included studies. We pooled the prevalence of HPV among HNC patients and performed a random-effects model meta-analysis using R software (version 4.3).
RESULTS
The search yielded 33 studies, encompassing 4654 HNC patients. The pooled prevalence of HPV infection was found to be 33% (95% CI: 25.8-42.6), with notable heterogeneity (I² = 95%). Analysis of subgroups according to geographical location indicated varying prevalence rates. Specifically, the prevalence was 47% (95% CI: 32.2-62.4) in the eastern regions and 19.8% (95% CI: 10.8-33.4) in the western regions. No evidence of publication bias was detected.
CONCLUSION
The observed considerable regional disparities on the prevalence of HPV in HNC patients in India emphasizes the need for integrated HPV vaccination and screening programs in public health strategies. The findings underline the necessity for further research to explore regional variations and treatment responses in HPV-associated HNCs, considering the impact of factors such as tobacco use and the potential benefits of HPV vaccination.
Topics: Female; Humans; Male; Head and Neck Neoplasms; Human Papillomavirus Viruses; India; Papillomavirus Infections; Prevalence; Risk Factors
PubMed: 38783184
DOI: 10.1186/s12879-024-09357-2