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Frontiers in Endocrinology 2024Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding...
INTRODUCTION
Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents with severe symptoms including acute pancreatitis, xanthomas, and lipemia retinalis.
METHODS
We described the clinical characteristics of three Slovenian patients (an 8-year-old female, an 18-year-old man, and a 57-year-old female) and one Pakistani patient (a 59-year-old male) with LPL deficiency. We performed next-generation sequencing (NGS) targeting all coding exons and intron-exon boundaries of the gene, and Sanger sequencing for variant confirmation. In addition, we performed a systematic literature review of all cases with three identified variants and described their clinical characteristics.
RESULTS
Two Slovenian patients with a heterozygous pathogenic variant NM_000237.3:c.984G>T (p.Met328Ile) were diagnosed within the first three years of life and had triglyceride (TG) values of 16 and 20 mmol/L. An asymptomatic Pakistani patient with TG values of 36.8 mmol/L until the age of 44 years, was identified as heterozygous for a pathogenic variant NM_000237.3:c.724G>A (p.Asp242Asn). His TG levels dropped to 12.7 mmol/L on dietary modifications and by using fibrates. A Slovenian patient who first suffered from pancreatitis at the age of 18 years with a TG value of 34 mmol/L was found to be homozygous for NM_000237.3:c.337T>C (p.Trp113Arg).
CONCLUSIONS
Patients with LPL deficiency had high TG levels at diagnosis. Homozygous patients had worse outcomes. Good diet and medication compliance can reduce severity.
Topics: Humans; Male; Female; Slovenia; Adolescent; Middle Aged; Lipoprotein Lipase; Child; Pakistan; Hyperlipoproteinemia Type I; Mutation
PubMed: 38911039
DOI: 10.3389/fendo.2024.1387419 -
Frontiers in Pediatrics 2024In 2019, 80% of the 7.4 million global child deaths occurred in low- and middle-income countries (LMICs). Global and regional estimates of cause of hospital death and...
In 2019, 80% of the 7.4 million global child deaths occurred in low- and middle-income countries (LMICs). Global and regional estimates of cause of hospital death and admission in LMIC children are needed to guide global and local priority setting and resource allocation but are currently lacking. The study objective was to estimate global and regional prevalence for common causes of pediatric hospital mortality and admission in LMICs. We performed a systematic review and meta-analysis to identify LMIC observational studies published January 1, 2005-February 26, 2021. Eligible studies included: a general pediatric admission population, a cause of admission or death, and total admissions. We excluded studies with data before 2,000 or without a full text. Two authors independently screened and extracted data. We performed methodological assessment using domains adapted from the Quality in Prognosis Studies tool. Data were pooled using random-effects models where possible. We reported prevalence as a proportion of cause of death or admission per 1,000 admissions with 95% confidence intervals (95% CI). Our search identified 29,637 texts. After duplicate removal and screening, we analyzed 253 studies representing 21.8 million pediatric hospitalizations in 59 LMICs. All-cause pediatric hospital mortality was 4.1% [95% CI 3.4%-4.7%]. The most common causes of mortality (deaths/1,000 admissions) were infectious [12 (95% CI 9-14)]; respiratory [9 (95% CI 5-13)]; and gastrointestinal [9 (95% CI 6-11)]. Common causes of admission (cases/1,000 admissions) were respiratory [255 (95% CI 231-280)]; infectious [214 (95% CI 193-234)]; and gastrointestinal [166 (95% CI 143-190)]. We observed regional variation in estimates. Pediatric hospital mortality remains high in LMICs. Global child health efforts must include measures to reduce hospital mortality including basic emergency and critical care services tailored to the local disease burden. Resources are urgently needed to promote equity in child health research, support researchers, and collect high-quality data in LMICs to further guide priority setting and resource allocation.
PubMed: 38910960
DOI: 10.3389/fped.2024.1397232 -
Cureus May 2024Diagnosing endometrial carcinoma correctly is essential for appropriate treatment, as it is a major health risk. As machine learning (ML) and artificial intelligence... (Review)
Review
Diagnosing endometrial carcinoma correctly is essential for appropriate treatment, as it is a major health risk. As machine learning (ML) and artificial intelligence (AI) have grown in popularity, so has interest in their potential to improve cancer diagnosis accuracy. In the context of endometrial cancer, this study attempts to examine the efficacy as well as the accuracy of AI-assisted diagnostic approaches. Additionally, it aims to methodically evaluate the contribution of AI and ML techniques to the improvement of endometrial cancer diagnosis. Following PRISMA guidelines, we performed a thorough search of numerous databases, including Medline via Ovid, PubMed, Scopus, Web of Science, and Google Scholar. Ten years were searched, encompassing both basic and advanced research. Peer-reviewed papers and original research studies that explicitly looked at the application of AI/ML in endometrial cancer diagnosis were the main targets of the well-defined selection criteria. Using the Critical Appraisal Skills Programme (CASP) methodology, two independent researchers conducted a thorough screening process and quality assessment of included studies. The review found a notable inclination towards the effective use of AI in endometrial carcinoma diagnostics, namely in the identification and categorization of endometrial cancer. Artificial intelligence models, particularly Convolutional Neural Networks (CNNs) and deep learning algorithms have shown remarkable precision in detecting endometrial cancer. They frequently achieve or even exceed the diagnostic proficiency of human specialists. The use of artificial intelligence in medical diagnostics signifies revolutionary progress in the field of oncology. AI-assisted diagnostic tools have demonstrated the potential to improve the precision and effectiveness of cancer diagnosis, namely in cases of endometrial carcinoma. This innovation not only enhances the quality of patient care but also indicates a transition towards more individualized and efficient treatment approaches in the field of oncology. The advancement of AI technology is expected to play a crucial role in medical diagnostics, particularly in the field of cancer detection and treatment, perhaps leading to a significant transformation in the approach to these areas.
PubMed: 38910646
DOI: 10.7759/cureus.60973 -
Sleep Medicine Jun 2024Parkinson's disease (PD) is a progressive neurodegenerative disorder, involving motor and non-motor symptoms (NMS). Sleep disturbances (SD) are the second most common... (Review)
Review
Parkinson's disease (PD) is a progressive neurodegenerative disorder, involving motor and non-motor symptoms (NMS). Sleep disturbances (SD) are the second most common NMS in PD and include rapid eye movement (REM) sleep behavior disorder (RBD), excessive daytime sleepiness and insomnia. Freezing of gait (FOG) is a gait impairment frequently reported in people with PD greatly hampering functional independence and quality of life. Presence of FOG has been associated with increased frequency and severity of NMS, including SD. Thus, the aim of this study was to systematically review the literature comparing the number of people with FOG in PD with (PD + SD) and without SD (PD-SD). By systematically searching PubMed and Web of Science databases to identify original peer-reviewed articles, 8 studies including 5251 people with PD (2025 PD + SD and 3226 PD-SD) met eligibility criteria and were included in the review. In 6 studies (4 studies investigating RBD, 2 studies investigating overall sleep quality), the group of PD + SD had higher prevalence of FOG compared with PD-SD. Although a limited number of studies, our findings suggest that PD + SD present more frequently FOG than PD-SD. More studies are required to investigate the possible mechanism underlying this association between FOG and sleep.
PubMed: 38908269
DOI: 10.1016/j.sleep.2024.06.001 -
Medicina Oral, Patologia Oral Y Cirugia... Jun 2024The DNA mismatch repair (MMR) system serves as a sophisticated guardian of the precise functioning of the human genome. Dysregulation within this system is linked to the...
BACKGROUND
The DNA mismatch repair (MMR) system serves as a sophisticated guardian of the precise functioning of the human genome. Dysregulation within this system is linked to the oncogenesis process. Reduced expression of MMR system proteins identified in salivary gland tumors (SGTs) suggests an increased risk of tumoral occurrence. This study aims to analyze the expression of MMR proteins in SGTs and discuss the relevance of this association to the development of these neoplasms.
MATERIAL AND METHODS
This review was conducted following the PRISMA guidelines and was registered in PROSPERO (CRD42023465590). A comprehensive search of the PubMed/MEDLINE, Web of Science, Scopus, Embase, and ProQuest (non-peer reviewed platform) was performed to answer the question "Do DNA MMR system proteins exhibit expression in SGTs?". The methodological quality of the selected studies was assessed using the JBI's Critical Appraisal Tool.
RESULTS
A total of 142 patients with benign SGTs and 84 with malignant SGTs were included in this review. The literature analysis showed a notable reduction in the expression of DNA MMR system proteins (hHMS2, hMLH1, hMSH3 and hMSH6) in the percentage of marked cells.
CONCLUSIONS
The reduction in the expression of the DNA MMR system proteins suggests an interesting correlation with the development of malignant and benign SGTs. Nevertheless, further investigations are warranted to better clarify the precision of measuring biomarker protein expression.
PubMed: 38907641
DOI: 10.4317/medoral.26647 -
Journal of Osteopathic Medicine Jun 2024Anxiety disorders have a far-reaching impact on society, with profound implications on both mental and physical health. In response, there is growing interest in manual...
CONTEXT
Anxiety disorders have a far-reaching impact on society, with profound implications on both mental and physical health. In response, there is growing interest in manual therapy modalities, with emerging research suggesting their potential to alleviate related symptoms.
OBJECTIVES
To establish a consensus regarding manual therapy modalities for addressing anxiety symptoms, a systematic review of current literature was conducted.
METHODS
A literature search was conducted between May and August 2023, utilizing a systematic search on both PubMed and Google Scholar, adhering to the defined inclusion criteria. In addition, information was gathered utilizing the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Both authors (KLW and TH) conducted the literature review. The inclusion criteria include articles written in English, peer-reviewed, anxiety conditions documented, and manual therapy delivered by a respectfully qualified professional. Manual therapy modalities include massage therapy, osteopathic manipulative treatment (OMT), foot reflexology, acupressure, manual therapy, healing touch, therapeutic touch, and gentle touch. After initial data collection, both researchers independently screened articles utilizing two metrics: a level of evidence (LOE) table and a screening criterion incorporating unique elements from the search process. The quality of the included articles was assessed utilizing Strength of Recommendation Taxonomy (SORT). When reviewer discrepancies arose, authors reread full-text studies and discussed the inclusion and exclusion criteria to achieve consensus.
RESULTS
The data searches identified 8,979 articles, with 239 articles remaining after duplicates and nonapplicable articles were removed. A total of 42 articles met the inclusion criteria, with only 40 articles able to be obtained for full-article review. After full review and the exclusion of articles with invalid author conclusions, meta-analysis, or systematic reviews, 34 articles were included in the review. All articles received an LOE rating of 2 or better and aligned with our specific screening criteria. Based on SORT, each modality was assigned a "B" rating. Among the included articles, n=27 demonstrated statistical significance in favor of manual therapy modalities as an anxiety treatment. The positive results for the aforementioned manual therapies on anxiety symptom improvement are shown: 15/18 (83 %) massage therapy, 2/6 (33 %) OMT, 5/5 (100 %) foot reflexology, 1/1 (100 %) acupressure, 1/1 (100 %) manual therapy, 0/2 (0 %) healing touch, 1/1 (100 %) therapeutic touch, and 1/1 (100 %) gentle touch.
CONCLUSIONS
A pattern emerged, wherein individuals receiving manual therapy interventions displayed a statistically significant reduction in anxiety intensity. Considering the positive results, manual therapy should be considered an effective strategy for anxiety management.
PubMed: 38905700
DOI: 10.1515/jom-2024-0001 -
Frontiers in Nutrition 2024Physical exertion during exercise often leads to increased oxidative stress and inflammatory responses, significantly affecting physical performance. Current strategies...
BACKGROUND
Physical exertion during exercise often leads to increased oxidative stress and inflammatory responses, significantly affecting physical performance. Current strategies to mitigate these effects are limited by their effectiveness and potential side effects. Molecular hydrogen (H₂) has gained attention for its antioxidant and anti-inflammatory properties. Studies have suggested that H supplementation contributes to antioxidant potential and anti-fatigue during exercise, but the variance in the observations and study protocols is presented across those studies.
OBJECTIVE
This systematic review and meta-analysis aimed to comprehensively characterize the effects of H₂ supplementation on physical performance (i.e., endurance, muscular strength, and explosive power), providing knowledge that can inform strategies using H for enhancing physical performance.
METHODS
We conducted a literature search of six databases (PubMed, Web of Science, Medline, Sport-Discus, Embase, and PsycINFO) according to the PRISMA guidelines. The data were extracted from the included studies and converted into the standardized mean difference (SMD). After that, we performed random-effects meta-analyses and used the statistic to evaluate heterogeneity. The Grading of Recommendations Assessment, Development, and Evaluation (GRADE) was used to assess the quality of the evidence obtained from this meta-analysis.
RESULTS
In total, 27 publications consisting of 597 participants were included. The search finally included aerobic endurance, anaerobic endurance, muscular strength, lower limb explosive power, rating of perceived exertion (RPE), blood lactate (BLA), and average heart rate (HR) in the effect size (ES) synthesis. The ES of H on aerobic endurance, including V̇O (SMD = 0.09, = 0.394; = 0%) and aerobic endurance exercise (SMD = 0.04, = 0.687; = 0%), were not significant and trivial; the ES of H on 30 s maximal anaerobic endurance (SMD = 0.19, = 0.239; = 0%) was not significant and trivial; the ES of H on muscular strength (SMD = 0.19, = 0.265; = 0%) was not significant and trivial; but the ES of H on lower limb explosive power (SMD = 0.30, = 0.018; = 0%) was significant and small. In addition, H reduces RPE (SMD = -0.37, = 0.009; = 58.0%) and BLA (SMD = -0.37, = 0.001; = 22.0%) during exercise, but not HR (SMD = -0.27, = 0.094; = 0%).
CONCLUSION
These findings suggest that H supplementation is favorable in healthy adults to improve lower limb explosive power, alleviate fatigue, and boost BLA clearance, but may not be effectively improving aerobic and anaerobic endurance and muscular strength. Future studies with more rigorous designs are thus needed to examine and confirm the effects of H on these important functionalities in humans.
SYSTEMATIC REVIEW REGISTRATION
http://www.crd.york.ac.uk/PROSPERO.
PubMed: 38903627
DOI: 10.3389/fnut.2024.1387657 -
Frontiers in Psychology 2024This study analyzes the existing academic literature to identify the effects of artificial intelligence (AI) on human resource (HR) activities, highlighting both...
INTRODUCTION
This study analyzes the existing academic literature to identify the effects of artificial intelligence (AI) on human resource (HR) activities, highlighting both opportunities and associated challenges, and on the roles of employees, line managers, and HR professionals, collectively referred to as the HR triad.
METHODS
We employed the scoping review method to capture and synthesize relevant academic literature in the AI-human resource management (HRM) field, examining 27 years of research (43 peer-reviewed articles are included).
RESULTS
Based on the results, we propose an integrative framework that outlines the five primary effects of AI on HR activities: task automation, optimized HR data use, augmentation of human capabilities, work context redesign, and transformation of the social and relational aspects of work. We also detail the opportunities and challenges associated with each of these effects and the changes in the roles of the HR triad.
DISCUSSION
This research contributes to the ongoing debate on AI-augmented HRM by discussing the theoretical contributions and managerial implications of our findings, along with avenues for future research. By considering the most recent studies on the topic, this scoping review sheds light on the effects of AI on the roles of the HR triad, enabling these key stakeholders to better prepare for this technological change. The findings can inform future academic research, organizations using or considering the application of AI in HRM, and policymakers. This is particularly timely, given the growing adoption of AI in HRM activities.
PubMed: 38903456
DOI: 10.3389/fpsyg.2024.1360401 -
Sexual & Reproductive Healthcare :... Jun 2024Literature surrounding miscarriage is broad in scope, yet narrative constructions following miscarriage are significantly under-researched. Few studies have sought to... (Review)
Review
Literature surrounding miscarriage is broad in scope, yet narrative constructions following miscarriage are significantly under-researched. Few studies have sought to understand sense-making processes following miscarriage, including how and why people story their experience. Consequently, the complexities and nuances of these processes have not been adequately explored. This review aimed to gain insight into what is already known about how people story their experience of miscarriage, as well as research gaps and limitations. A systematic literature review of qualitative literature was conducted across four databases to identify relevant research related to miscarriage narratives and sense-making. Eligibility criteria was applied to a staged screening process to identify the highest quality, peer-reviewed research. Ten studies were included in the review and presented as a narrative synthesis. The literature was divided into five collective themes: women's perspectives, male partner's perspectives, couples' perspectives, healthcare professional's perspectives, and cultural perspectives. The literature review summarises existing knowledge about narrative processes in relation to miscarriage, as well as highlighting research gaps, clinical implications, and directions for future research. When working with those who have experienced involuntary child loss and infertility, there is a need for professionals to have appropriate training to support the provision of compassionate, individualised care and decision-making. The role of language requires consideration as there is a need to address over-medicalised systems of knowledge, and it is important that there is understanding regarding the need for expression, and the various ways that individuals might express their feelings and loss.
PubMed: 38901061
DOI: 10.1016/j.srhc.2024.100997 -
Journal of Medical Internet Research Jun 2024Despite the well-documented health benefits associated with wearable monitoring devices (WMDs), adherence among community-dwelling older adults remains low. By providing... (Review)
Review
Effects of Peer- or Professional-Led Support in Enhancing Adherence to Wearable Monitoring Devices Among Community-Dwelling Older Adults: Systematic Review of Randomized Controlled Trials.
BACKGROUND
Despite the well-documented health benefits associated with wearable monitoring devices (WMDs), adherence among community-dwelling older adults remains low. By providing guidance on the purpose and benefits of using WMDs, facilitating goal-setting aligned with the device's features, promoting comprehension of the health data captured by the device, and assisting in overcoming technological challenges, peers and health care professionals can potentially enhance older adults' adherence to WMDs. However, the effectiveness of such support mechanisms in promoting adherence to WMDs among older adults remains poorly understood.
OBJECTIVE
The aims of this systematic review were to examine the effects of peer- or professional-led intervention programs designed to improve adherence to WMDs among community-dwelling older adults and to identify the intervention components that may positively influence the effects of the intervention.
METHODS
We conducted a comprehensive search across 7 electronic databases (Cochrane Central Register of Controlled Trials [CENTRAL], PubMed, EMBASE, PsycINFO, British Nursing Index, Web of Science, and CINAHL) to identify articles published between January 1, 2010, and June 26, 2023. We specifically targeted randomized controlled trials that examined the impact of peer- or professional-led interventions on enhancing adherence to WMDs among individuals aged 60 years and older residing in the community. Two independent reviewers extracted data from the included studies and assessed the potential risk of bias in accordance with the Cochrane Risk of Bias tool for randomized trials, version 2.
RESULTS
A total of 10,511 studies were identified through the database search. Eventually, we included 3 randomized controlled trials involving 154 community-dwelling older adults. The participants had a mean age of 65 years. Our review revealed that increasing awareness of being monitored and implementing the SystemCHANGE approach, a habit change tool focusing on personal goals and feedback, were effective strategies for enhancing adherence to WMDs among older adults. All of the included studies exhibited a low risk of bias.
CONCLUSIONS
By collaboratively designing specific goals related to WMDs with health care professionals, including nurses and physicians, older adults exhibited a higher likelihood of adhering to the prescribed use of WMDs. These goal-setting tools provided a framework for structure and motivation, facilitating the seamless integration of WMDs into their daily routines. Researchers should prioritize interventions that target awareness and goal-setting as effective approaches to enhance adherence to WMDs among older adults, thereby maximizing the realization of associated health benefits.
Topics: Humans; Aged; Independent Living; Wearable Electronic Devices; Randomized Controlled Trials as Topic; Patient Compliance; Peer Group; Middle Aged; Female; Male; Aged, 80 and over
PubMed: 38900546
DOI: 10.2196/53607