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Communications Medicine Oct 2023Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and...
BACKGROUND
Monogenic diabetes presents opportunities for precision medicine but is underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria and (2) methods for genetic testing for monogenic diabetes, summarized resources for (3) considering a gene or (4) variant as causal for monogenic diabetes, provided expert recommendations for (5) reporting of results; and reviewed (6) next steps after monogenic diabetes diagnosis and (7) challenges in precision medicine field.
METHODS
Pubmed and Embase databases were searched (1990-2022) using inclusion/exclusion criteria for studies that sequenced one or more monogenic diabetes genes in at least 100 probands (Question 1), evaluated a non-obsolete genetic testing method to diagnose monogenic diabetes (Question 2). The risk of bias was assessed using the revised QUADAS-2 tool. Existing guidelines were summarized for questions 3-5, and review of studies for questions 6-7, supplemented by expert recommendations. Results were summarized in tables and informed recommendations for clinical practice.
RESULTS
There are 100, 32, 36, and 14 studies included for questions 1, 2, 6, and 7 respectively. On this basis, four recommendations for who to test and five on how to test for monogenic diabetes are provided. Existing guidelines for variant curation and gene-disease validity curation are summarized. Reporting by gene names is recommended as an alternative to the term MODY. Key steps after making a genetic diagnosis and major gaps in our current knowledge are highlighted.
CONCLUSIONS
We provide a synthesis of current evidence and expert opinion on how to use precision diagnostics to identify individuals with monogenic diabetes.
PubMed: 37794142
DOI: 10.1038/s43856-023-00369-8 -
Patient Preference and Adherence 2023Poor medication adherence hampers hypertension control and increases the risk of adverse health outcomes. Medication adherence can be measured with direct and indirect... (Review)
Review
BACKGROUND
Poor medication adherence hampers hypertension control and increases the risk of adverse health outcomes. Medication adherence can be measured with direct and indirect methods. The Hill-Bone Compliance to High Blood Pressure Therapy (HBCHBPT) Scale, one of the most popular adherence measures, indirectly assesses adherence to hypertension therapy in three behavioral domains: appointment keeping, diet and medication adherence.
AIM
To synthesize evidence on the use of the HBCHBPT Scale, including psychometric properties, utility in diverse patient populations, and directions for future clinical use and research.
METHODS
We searched electronic databases, specifically CINAHL, PubMed, PsychInfo, Embase, and Web of Science. We included original studies that used the HBCHBPT Scale or its subscales to measure a health outcome, or methodological studies involving translations and validations of the scale. We extracted and synthesized data following the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) guidelines.
RESULTS
Fifty studies were included in this review, 44 on hypertension, two on diabetes, and others on other chronic conditions. The scale was successfully translated into numerous languages and used in descriptive and intervention studies. The scale demonstrated sound psychometric properties (Cronbach's α coefficient 0.75) and sensitivity to capture intervention effects when used to evaluate the effectiveness of high blood pressure adherence interventions. The medication-taking subscale of HBCHBPT performs best and is widely used in diverse contexts to assess medication adherence for chronic conditions.
CONCLUSION
The HBCHBPT Scale has high versatility globally and has been used in various settings by various healthcare worker cadres and researchers. The scale has several strengths, including high adherence phenotyping capabilities, contributing to the paradigm shift toward personalized health care.
PubMed: 37790863
DOI: 10.2147/PPA.S412198 -
Anaesthesiology Intensive Therapy 2023Relatives of critically ill patients who either die or survive the intensive care unit (ICU) may develop substantial mental health problems that are collectively defined...
INTRODUCTION
Relatives of critically ill patients who either die or survive the intensive care unit (ICU) may develop substantial mental health problems that are collectively defined as post-intensive care syndrome in family (PICS-F).
MATERIAL AND METHODS
By using a systematised search strategy we included studies that focused on PICS-F in relatives of adult ICU patients and reported the risk factors associated with its development. The search was conducted within PubMed, Embase, SCOPUS, clinicaltrials.gov, and Cochrane Library on the 23 August 2022. PRISMA 2020 guidelines were implemented for appropriate reporting. The objective was to document all possible risk factors associated with the development of PICS-F.
RESULTS
We included 51 papers covering 9302 relatives. The frequency of PICS-F varied between 2.5 and 69%. We identified 51 different risk factors of PICS-F, among which we distinguished patient-related ( n = 16), relative-related ( n = 27), and medical staff-related ( n = 8) risk factors. Among 21 studies of the highest quality, we identified the 33 variables associated with the development of PICS-F, of which younger age of a patient, death of a patient, depression in relatives during the ICU stay, history of mental disorders in relatives, being a female relative, being a spouse, and having low satisfaction with communication and care in the ICU were the most commonly reported risk factors.
CONCLUSIONS
PICS-F is a highly frequent phenomenon that can be exacerbated by several risk factors. Special attention should be paid to relatives of younger patients with worse prognosis and with the following relative-related risk factors: female sex, being a spouse, and history of mental health disorders. Finally, the medical staff play a role in preventing the PICS-F development, not only by maintenance of proper communication, but also by early identification of relatives prone to PICS-F.
Topics: Humans; Adult; Female; Critical Illness; Family; Risk Factors; Communication
PubMed: 37728444
DOI: 10.5114/ait.2023.130831 -
BMC Geriatrics Aug 2023To address the care needs of older adults, it is important to identify and understand the forms of care support older adults received. This systematic review aims to...
PURPOSE
To address the care needs of older adults, it is important to identify and understand the forms of care support older adults received. This systematic review aims to examine the social networks of older adults receiving informal or formal care and the factors that influenced their networks.
METHODS
A systematic review was conducted by searching six databases from inception to January 31, 2023. The review included primary studies focusing on older adults receiving long-term care, encompassing both informal and formal care. To assess the risk of bias in the included studies, validated appraisal tools specifically designed for different study types were utilized. Network analysis was employed to identify the grouping of study concepts, which subsequently formed the foundation for describing themes through narrative synthesis.
RESULTS
We identified 121 studies relating to the formal and informal care of older adults' networks. A variety of social ties were examined by included studies. The most commonly examined sources of care support were family members (such as children and spouses) and friends. Several factors were consistently reported to influence the provision of informal care, including the intensity of networks, reciprocity, and geographical proximity. In terms of formal care utilization, older age and poor health status were found to be associated with increased use of healthcare services. Additionally, physical limitations and cognitive impairment were identified as factors contributing to decreased social engagement.
CONCLUSION
This review found that older people were embedded within a diverse network. The findings of this review emphasize the importance of recognizing and incorporating the diversity of social networks in care plans and policies to enhance the effectiveness of interventions and improve the overall well-being of older adults.
Topics: Humans; Aged; Social Networking; Cognitive Dysfunction; Databases, Factual; Family; Friends
PubMed: 37653368
DOI: 10.1186/s12877-023-04190-9 -
Cells Aug 2023Immunotherapy has recently been incorporated into the spectrum of biliary tract cancer (BTC) treatment. The identification of predictive response biomarkers is essential... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Immunotherapy has recently been incorporated into the spectrum of biliary tract cancer (BTC) treatment. The identification of predictive response biomarkers is essential in order to identify those patients who may benefit most from this novel treatment option. Here, we propose a systematic literature review and a meta-analysis of PD-1, PD-L1, and other immune-related biomarker expression levels in patients with BTC.
METHODS
Prisma guidelines were followed for this systematic review and meta-analysis. Eligible studies were searched on PubMed. Studies published between 2017 and 2022, reporting data on PD-1/PD-L1 expression and other immune-related biomarkers in patients with BTC, were considered eligible.
RESULTS
A total of 61 eligible studies were identified. Despite the great heterogeneity between 39 studies reporting data on PD-L1 expression, we found a mean PD-L1 expression percentage (by choosing the lowest cut-off per study) of 25.6% (95% CI 21.0 to 30.3) in BTCs. The mean expression percentages of PD-L1 were 27.3%, 21.3%, and 27.4% in intrahepatic cholangiocarcinomas (iCCAs-15 studies), perihilar-distal CCAs (p/dCCAs-7 studies), and gallbladder cancer (GBC-5 studies), respectively. Furthermore, 4.6% (95% CI 2.38 to 6.97) and 2.5% (95% CI 1.75 to 3.34) of BTCs could be classified as TMB-H and MSI/MMRd tumors, respectively.
CONCLUSION
From our analysis, PD-L1 expression was found to occur approximately in 26% of BTC patients, with minimal differences based on anatomical location. TMB-H and MSI molecular phenotypes occurred less frequently. We still lack a reliable biomarker, especially in patients with mismatch-proficient tumors, and we must need to make an effort to conceive new prospective biomarker discovery studies.
Topics: Humans; B7-H1 Antigen; Programmed Cell Death 1 Receptor; Biliary Tract Neoplasms; Immunotherapy; Biomarkers; Bile Duct Neoplasms; Bile Ducts, Intrahepatic
PubMed: 37626908
DOI: 10.3390/cells12162098 -
CVIR Endovascular Aug 2023Occult gastrointestinal bleeding (GIB) is a challenge for physicians to diagnose and treat. A systematic literature search of the PubMed and Embase databases was... (Review)
Review
Occult gastrointestinal bleeding (GIB) is a challenge for physicians to diagnose and treat. A systematic literature search of the PubMed and Embase databases was conducted up to January 1, 2023. Eligible studies included primary research studies with patients undergoing provocative mesenteric angiography (PMA) for diagnosis or localization of occult GIB. Twenty-seven articles (230 patients) were included in the review. Most patients (64.8%) presented with lower GIB. The average positivity rate for provocative angiography was 48.7% (58% with heparin and 46.7% in thrombolytics). Embolization was performed in 46.4% of patients, and surgical management was performed in 37.5%. Complications were rare. PMA can be an important diagnostic and treatment tool but studies with high-level evidence and standardized protocols are needed to establish its safety and optimal use.
PubMed: 37589781
DOI: 10.1186/s42155-023-00386-7 -
Innovation in Aging 2023Subjective cognitive decline (SCD) may be indicative of future objective cognitive decline. However, factors other than objective cognitive performance may influence... (Review)
Review
BACKGROUND AND OBJECTIVES
Subjective cognitive decline (SCD) may be indicative of future objective cognitive decline. However, factors other than objective cognitive performance may influence SCD. This review addresses whether family history or close, nonfamilial exposure to dementia is associated with self-reported SCD.
RESEARCH DESIGN AND METHODS
Searches were conducted in PubMed, PsycINFO, Web of Science, and the Dissertations and Theses database. Eligible articles included measures of self-reported cognition for community-dwelling middle-aged or older adults (40+ years) not diagnosed with dementia, and who had either a family history of dementia, a family member, spouse, or close friend with dementia. The quality of evidence was evaluated using the LEGEND Appraisal Tool. Evidence was synthesized narratively.
RESULTS
A total of 32 articles were included, with 28 rated as . Across studies, the relationship between dementia exposure and SCD was inconsistent. A significant association between exposure and SCD was found in 6 studies; however, 17 reviewed studies found no evidence of a relationship. The remaining 9 studies found mixed associations. Modifying factors that could potentially influence these associations were exploratorily identified among studies to provide context to our results. These factors included dementia worry, emotional closeness, and measurement sensitivity.
DISCUSSION AND IMPLICATIONS
Findings of this review suggest that both first-degree relatives and spouses of persons with dementia may have an increased likelihood of reporting SCD, although the current heterogeneity in definitions of exposure to dementia and SCD may influence these findings. In addition to the relationship between dementia exposure and SCD, future research should examine potential modifiers, including meaning attributed to exposure, as identifying how these perceptions affect cognition may promote early intervention.
PubMed: 37497342
DOI: 10.1093/geroni/igad056 -
Substance Abuse : Research and Treatment 2023The parent-infant relationship is critical for socioemotional development and is adversely impacted by perinatal substance use. This systematic review posits that the... (Review)
Review
The parent-infant relationship is critical for socioemotional development and is adversely impacted by perinatal substance use. This systematic review posits that the mechanisms underlying these risks to mother-infant relationships center on 3 primary processes: (1) mothers' childhood maltreatment experiences; (2) attachment styles and consequent internal working models of interpersonal relationships; and (3) perinatal substance use. Further, the review considers the role of hyperkatifeia, or hypersensitivity to negative affect which occurs when people with substance use disorders are not using substances, and which drives the negative reinforcement in addiction. The authors performed a systematic review of articles (published 2000-2022) related to these constructs and their impact on mother-infant relationships and offspring outcomes, including original clinical research articles addressing relationships between these constructs, and excluding case studies, reviews, non-human animal studies, intervention studies, studies with fewer than 30% female-sex participants, clinical guidelines, studies limited to obstetric outcomes, mechanistic/biological studies, and studies with methodological issues precluding interpretation. Overall 1844 articles were screened, 377 were selected for full text review, and data were extracted from 157 articles. Results revealed strong relationships between mothers' childhood maltreatment experiences, less optimal internal working models, and increased risk for perinatal substance use, and importantly, all of these predictors interacted with hyperkatifeia and exerted a marked impact on mother-infant relationships with less data available on offspring outcomes. These data strongly support the need for future studies addressing the additive impact of maternal childhood maltreatment experiences, suboptimal internal working models, and perinatal substance use, with hyperkatifeia as a potential moderator, and their interacting effects on mother-infant socioemotional outcomes.
PubMed: 37476500
DOI: 10.1177/11782218231186371 -
Heart International 2023: Patients with prediabetes are at increased risk of coronary artery disease (CAD). However, the association between prediabetes and adverse clinical outcomes following... (Review)
Review
Outcomes of Prediabetes Compared with Normoglycaemia and Diabetes Mellitus in Patients Undergoing Percutaneous Coronary Intervention: A Systematic Review and Meta-analysis.
: Patients with prediabetes are at increased risk of coronary artery disease (CAD). However, the association between prediabetes and adverse clinical outcomes following percutaneous coronary intervention (PCI) is inconsistent, in contrast to outcomes in patients with diabetes mellitus (DM). Thus, this meta-analysis evaluated the impact of dysglycaemia on PCI outcomes. : The PubMed, Embase, Cochrane, and ClinicalTrials.gov databases were systematically reviewed from inception of databases until June 2022. In 17 studies, outcomes of PCI in patients with prediabetes were compared with patients who were normoglycaemic, and patients with DM. The primary outcome was all-cause mortality at the longest follow-up. : Included were 12 prospective and five retrospective studies, with 11,868, 14,894 and 13,536 patients undergoing PCI in the prediabetes, normoglycaemic and DM groups, respectively. Normoglycaemic patients had a statistically lower risk of all-cause mortality, (risk ratio [RR] 0.66, 95% confidence interval [CI] 0.52-0.84), myocardial infarction (MI; RR 0.76, 95% CI 0.61-0.95) and cardiac mortality (RR 0.58, 95% CI 0.39-0.87) compared with prediabetic patients undergoing PCI at the longest follow-up. Patients with prediabetes had a lower risk of all-cause mortality (RR=0.72 [95% CI 0.53-0.97]) and cardiac mortality (RR =0.47 [95% CI 0.23-0.93]) compared with patients with DM who underwent PCI. : Among patients who underwent PCI for CAD, the risk of all-cause and cardiac mortality, major adverse cardiovascular events and MI in prediabetic patients was higher compared with normoglycaemic patients but lower compared with patients with DM.
PubMed: 37456347
DOI: 10.17925/HI.2023.17.1.45 -
The Journal of Pediatrics Nov 2023To evaluate the ethics of involving adolescents in HIV research, we conducted a systematic review of the empiric literature.
OBJECTIVE
To evaluate the ethics of involving adolescents in HIV research, we conducted a systematic review of the empiric literature.
METHODS
Electronic databases Ovid Medline, Embase, and CINAHL were systematically searched using controlled vocabulary terms related to ethics, HIV, specified age groups, and empiric research studies. We reviewed titles and abstracts, including studies that collected qualitative or quantitative data, evaluated ethical issues in HIV research, and included adolescents. Studies were appraised for quality, data were extracted, and studies were analyzed using narrative synthesis.
RESULTS
We included 41 studies: 24 qualitative, 11 quantitative, 6 mixed methods; 22 from high-income countries (HIC), 18 from low- or middle-income countries (LMIC), and 1 from both HIC and LMIC. Adolescent, parent, and community perspectives assert the benefits of involving minors in HIV research. Participants in LMIC expressed mixed views regarding parental consent requirements and confidentiality, given adolescents' both increasing autonomy and continued need for adult support. In studies in HIC, sexual or gender minority youth would not participate in research if parental consent were required or if there were confidentiality concerns. There was variation in the comprehension of research concepts, but adolescents generally demonstrated good comprehension of informed consent. Informed consent processes can be improved to increase comprehension and study accessibility. Vulnerable participants face complex social barriers that should be considered in study design.
CONCLUSIONS
Data support the inclusion of adolescents in HIV research. Empiric research can inform consent processes and procedural safeguards to ensure appropriate access.
Topics: Adult; Adolescent; Humans; Informed Consent; Minors; Parental Consent; Parents; Confidentiality; HIV Infections
PubMed: 37399918
DOI: 10.1016/j.jpeds.2023.113589