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Orphanet Journal of Rare Diseases Feb 2024Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. There are sex differences in fat metabolism and it is not known whether late-onset MADD affects men and women equally.
METHODS
In this systematic review and meta-analysis, the PubMed, Embase, Web of Science, CNKI, CBM, and Wanfang databases were searched until 01/08/2023. Studies reporting sex distribution in patients with late-onset MADD were included. Two authors independently screened studies for eligibility, extracted data, and assessed risk of bias. Pre-specified outcomes of interest were the male-to-female ratio (MFR) of patients with late-onset MADD, the differences of clinical characteristics between the sexes, and factors influencing the MFR.
RESULTS
Of 3379 identified studies, 34 met inclusion criteria, yielding a total of 609 late-onset MADD patients. The overall pooled percentage of males was 58% (95% CI, 54-63%) with low heterogeneity across studies (I = 2.99%; P = 0.42). The mean onset ages, diagnostic delay, serum creatine kinase (CK), and allelic frequencies of 3 hotspot variants in ETFDH gene were similar between male and female patients (P > 0.05). Meta-regressions revealed that ethnic group was associated with the MFR in late-onset MADD, and subgroup meta-analyses demonstrated that East-Asian patients had a higher percentage of male, lower CK, and higher proportion of hotspot variants in ETFDH gene than non-East-Asian patients (P < 0.05).
CONCLUSIONS
Male patients with late-onset MADD were more common than female patients. Ethnicity was proved to be a factor influencing the MFR in late-onset MADD. These findings suggest that male sex may be a risk factor for the disease.
Topics: Humans; Male; Female; Multiple Acyl Coenzyme A Dehydrogenase Deficiency; Mutation; Delayed Diagnosis; Electron-Transferring Flavoproteins; Iron-Sulfur Proteins; Oxidoreductases Acting on CH-NH Group Donors; Acyl-CoA Dehydrogenase
PubMed: 38365830
DOI: 10.1186/s13023-024-03072-6 -
Current Medical Research and Opinion Apr 2024To systematically review the literature and summarize the health-related quality-of-life (HRQoL) of patients undergoing treatment for mucopolysaccharidoses (MPS), a...
OBJECTIVE
To systematically review the literature and summarize the health-related quality-of-life (HRQoL) of patients undergoing treatment for mucopolysaccharidoses (MPS), a rare, hereditary lysosomal storage disorder.
METHODS
A systematic review was performed in accordance with PRISMA guidelines to identify research studies that describe the humanistic burden of MPS. A comprehensive literature search was conducted in EMBASE, MEDLINE, and eligible conferences were screened to include applicable abstracts.
RESULTS
Of 870 identified articles, 15 studies reported the HRQoL burden of patients with MPS undergoing or with a history of ERT and/or HSCT. These studies include patients of MPS I ( = 2), MPS II ( = 4), MPS IV ( = 6), MPS VI ( = 1), and subtype not mentioned ( = 2). Although the quality-of-life of MPS patients is influenced by time of diagnosis, pain, cognitive involvement, severity of disease, mobility, dependence, and time of treatment initiation, the HRQoL scores of MPS patients across all the scales were below the median reference population scores across all dimensions. This is seen in comparison to healthy participants but also in comparison to patients with other chronic illnesses. The multi-organ involvement, neurological impairment, pain, and morbidity associated with the condition not only affects activity of daily living but also affects social functioning, emotional status, employment status among adults, and school functioning among children.
CONCLUSIONS
This systematic literature review revealed the substantial humanistic burden of individuals affected by MPS as well as caregivers. Significant variation in HRQoL scores was observed, however studies indicate that the quality-of-life of MPS patients is influenced primarily by severity of disease (MPS type and phenotype), and then by time of diagnosis, pain, cognitive involvement, mobility, dependence, and time of treatment initiation. Further studies are needed to assess the global humanistic burden of MPS, particularly in MPS III, VI, VII, and IX subtypes, in adults, and for a longer follow-up period. Considering the vast array of HRQoL assessment tools available and used in this study, researchers should also consider using scales with condition-specific measures to ensure appropriate estimates of effectiveness.
Topics: Child; Adult; Humans; Mucopolysaccharidoses; Quality of Life; Chronic Disease; Caregivers; Pain
PubMed: 38328952
DOI: 10.1080/03007995.2024.2316213 -
Journal of Human Lactation : Official... May 2024Raw, never stored or pasteurized mother's own milk (MOM) is not always available to feed preterm infants; however, storage and pasteurization of MOM diminishes some... (Review)
Review
BACKGROUND
Raw, never stored or pasteurized mother's own milk (MOM) is not always available to feed preterm infants; however, storage and pasteurization of MOM diminishes some bioactive components. It can be difficult to feed raw MOM to preterm infants due to transportation and storage of small volumes that might be pumped away from the infant, and a concern that they might harbor bacteria. However, the higher availability of bioactive components in raw MOM may provide benefits to preterm infants compared to frozen or pasteurized MOM.
RESEARCH AIM
To systematically review and summarize the results of studies on feeding raw MOM versus frozen or pasteurized MOM to preterm infants born at less than 37 weeks of gestation.
METHODS
Four databases were searched (Cochrane, Embase, Ovid MEDLINE, and Web of Science) for this systematic review. Of 542 studies identified, nine met inclusion criteria and were critically evaluated using the quality assessment tool for quantitative studies by the Effective Public Health Practice Project. Studies were organized using the Breastfeeding Challenges Facing Preterm Mother-Infant Dyads theoretical framework.
RESULTS
Included studies evaluated the outcomes of preterm infants fed raw versus pasteurized MOM ( = 7, 77.8%) or raw versus frozen MOM ( = 2, 22.2%). Researchers found that raw MOM did not increase infant infections and may have improved health and growth outcomes for study participants.
CONCLUSION
There is laboratory evidence supporting the safety and efficacy of the use of raw MOM for preterm infants. A raw MOM diet is recommended for preterm infants by professional organizations. Despite this, it may not be universally prioritized and could require purposeful implementation by each institution. Further research is needed to pursue the potential benefits of a raw MOM diet for preterm infants.
Topics: Infant; Female; Infant, Newborn; Humans; Infant, Premature; Breast Feeding; Milk, Human; Mothers; Diet; Infant, Very Low Birth Weight; Intensive Care Units, Neonatal
PubMed: 38328919
DOI: 10.1177/08903344241227941 -
Epidemiologic Reviews Feb 2024For lethal means safety counseling interventions (LMSC) to reduce population-level suicide rates, interventions must be deployed across many settings and populations. We...
For lethal means safety counseling interventions (LMSC) to reduce population-level suicide rates, interventions must be deployed across many settings and populations. We conducted a systematic search in six databases to review the current state of LMSC interventions across study designs, settings, messengers, populations, and injury prevention levels (e.g., universal). Eligibility criteria were: any individual or group receiving a LMSC intervention involving a human-to-human component aiming to influence adult behaviors related to lethal suicide methods, and outcome assessment of storage behaviors and/or suicidal self-directed violence (SDV). Risk of bias was assessed using the Effective Public Health Practice Project (EPHPP) quality assessment tool. A descriptive synthesis approach was used for analysis. Twenty-two studies were included that reported medication and/or firearm storage behaviors and/or SDV following LMSC. Fourteen of the 19 studies assessing behavioral change reported a significant improvement in safe storage behaviors, and all studies measuring acceptability reported that participants found the interventions favorable. Quality of evidence was limited. No studies were rated low risk of bias, and 77% were rated high risk of bias. There was substantial heterogeneity in the settings, populations, injury prevention levels, delivery methods, and intervention elements. Many included studies focused on caregivers of pediatric populations, and few studies assessed SDV outcomes. Higher quality trials conducted across a variety of settings, particularly those focusing on adults at risk of suicide, are needed. There was no funding for this review, and it was preregistered on the International Prospective Register of Systematic Reviews (PROSPERO) (ID: CRD42021230668).
PubMed: 38324739
DOI: 10.1093/epirev/mxae001 -
BMC Oral Health Feb 2024Human saliva as a bodily fluid-similar to blood-is utilized for diagnostic purposes. Unlike blood sampling, collecting saliva is non-invasive, inexpensive, and readily...
BACKGROUND
Human saliva as a bodily fluid-similar to blood-is utilized for diagnostic purposes. Unlike blood sampling, collecting saliva is non-invasive, inexpensive, and readily accessible. There are no previously published systematic reviews regarding different collection, transportation, preparation, and storage methods for human saliva.
DESIGN
This study has been prepared and organized according to the preferred reporting items for systematic reviews and meta-analyses (PRISMA) 2020 guidelines. This systematic review has been registered at PROSPERO (Registration ID: CRD42023415384). The study question according to the PICO format was as followed: Comparison of the performance (C) of different saliva sampling, handling, transportation, and storage techniques and methods (I) assessed for analyzing stimulated or unstimulated human saliva (P and O). An electronic search was executed in Scopus, Google Scholar, and PubMed.
RESULTS
Twenty-three descriptive human clinical studies published between 1995 and 2022 were included. Eight categories of salivary features and biomarkers were investigated (i.e., salivary flow rate, total saliva quantity, total protein, cortisol, testosterone, DNA quality and quantity, pH and buffering pH). Twenty-two saliva sampling methods/devices were utilized. Passive drooling, Salivette®, and spitting were the most utilized methods. Sampling times with optimum capabilities for cortisol, iodine, and oral cancer metabolites are suggested to be 7:30 AM to 9:00 AM, 10:30 AM to 11:00 AM, and 14:00 PM to 20:00 PM, respectively. There were 6 storage methods. Centrifuging samples and storing them at -70 °C to -80 °C was the most utilized storage method. For DNA quantity and quality, analyzing samples immediately after collection without centrifuging or storage, outperformed centrifuging samples and storing them at -70 °C to -80 °C. Non-coated Salivette® was the most successful method/device for analyzing salivary flow rate.
CONCLUSION
It is highly suggested that scientists take aid from the reported categorized outcomes, and design their study questions based on the current voids for each method/device.
Topics: Humans; Hydrocortisone; Saliva; Biomarkers; Specimen Handling; DNA
PubMed: 38308289
DOI: 10.1186/s12903-024-03902-w -
Journal of Clinical and Experimental... 2024The magnitude of potential benefits that hypothermic oxygenated perfusion (HOPE) may provide for liver transplantation (LT) patients compared to static cold storage...
BACKGROUND
The magnitude of potential benefits that hypothermic oxygenated perfusion (HOPE) may provide for liver transplantation (LT) patients compared to static cold storage (SCS) remains uncertain. In this systematic review and meta-analysis, we aimed to investigate the therapeutic effect that HOPE can offer LT recipients relative to SCS by synthesizing available evidence.
METHODS
A literature search was conducted in Embase, Medline, Web of Science, and the Cochrane database up to 1 June, 2023. The included studies were pooled for meta-analysis to synthesize their findings. Subgroup analysis was performed to investigate potential differences between HOPE and SCS for specific subgroups.
RESULTS
A total of 11 studies comprising 1765 patients were included. Compared with SCS, HOPE was associated with a significant reduction in the incidence of early allograft dysfunction (EAD) (OR: 0.36, 95% CI: 0.26-0.50), as well as a noteworthy decrease in graft loss rate within one year (OR: 0.57, 95% CI: 0.33-0.97) and a lower occurrence of Clavien-Dindo grade IIIa or higher complications (OR: 0.62, 95% CI: 0.43-0.89). Subgroup analysis revealed that HOPE significantly reduced the one-year mortality rate, any biliary complications incidence, and acute rejection of transplanted liver rate in patients who received organs from donation after cardiac death (DCD).
CONCLUSIONS
HOPE has demonstrated efficacy in reducing the incidence of EAD after LT and shows some potential in diminishing postoperative complications such as biliary complications and acute rejection. This ultimately leads to improved patient prognosis, particularly among those receiving DCD grafts.
PubMed: 38298754
DOI: 10.1016/j.jceh.2023.101337 -
Research in Veterinary Science Mar 2024Exhaled breath condensate (EBC) collection is a non-invasive sampling method that provides valuable information regarding the health status of the respiratory system by... (Review)
Review
Exhaled breath condensate (EBC) collection is a non-invasive sampling method that provides valuable information regarding the health status of the respiratory system by measuring inflammatory mediators, such as pH, hydrogen peroxide, and leukotriene B4. This scoping review aimed to provide an update on the collection and analysis of EBC in horses. A systematic search of three electronic databases, PubMed, Google Scholar, Science Direct, identified 40,978 articles, of which 1590 duplicates were excluded. Moreover, 39,388 articles were excluded because of irrelevance to this review, such as studies on other species, studies on respiratory exhalation, reviews, and theses. Finally, we evaluated 14 articles in this review. Our review revealed significant differences in the collection, storage, and processing of EBC samples, emphasizing the need for standardizing the technique and using specific equipment to improve the interpretation of the results.
Topics: Animals; Biomarkers; Breath Tests; Exhalation; Horses; Hydrogen-Ion Concentration; Leukotriene B4; Respiratory System
PubMed: 38278027
DOI: 10.1016/j.rvsc.2024.105160 -
Ecology and Evolution Jan 2024Naturalistic plantings, such as meadow-style plantings, can improve the quality of urban green spaces through aesthetic, biodiversity and low maintenance features.... (Review)
Review
Naturalistic plantings, such as meadow-style plantings, can improve the quality of urban green spaces through aesthetic, biodiversity and low maintenance features. Species selection for, and maintenance of naturalistic plantings are key to their success. While herbaceous and grassy meadows can be mowed, naturalistic plantings with woody plants require more intense maintenance to remove biomass and promote resprouting. We aim to understand woody plant responses to diverse disturbance regimes to potentially inform the selection and management of woody species in urban plantings. We conducted a quantitative systematic literature review of 72 papers and investigated what main external (climate, disturbance regime) and internal (buds, life stage, storage reserves) factors influence the resprouting response of woody plants. We found resprouting literature is geographically widespread for woody plants, but studies are skewed towards Temperate climates in USA and Australia, with a focus on high severity and high frequency fire disturbance. Resprouting response was mostly defined as a continuous response to disturbance dependent on disturbance regime, climate and plant traits. Maintenance and management of naturalistic woody plantings, through hard pruning techniques such as coppicing, may be informed by analogous high severity and high frequency disturbance studies. However, the literature on woody plant resprouting has several knowledge gaps for lower severity and lower frequency disturbance regimes and in more arid climates. Future research should evaluate the response of naturalistic woody plantings to disturbance in specific urban contexts.
PubMed: 38235408
DOI: 10.1002/ece3.10839 -
JMIR MHealth and UHealth Feb 2024In the modern world, mobile apps are essential for human advancement, and pandemic control is no exception. The use of mobile apps and technology for the detection and... (Review)
Review
BACKGROUND
In the modern world, mobile apps are essential for human advancement, and pandemic control is no exception. The use of mobile apps and technology for the detection and diagnosis of COVID-19 has been the subject of numerous investigations, although no thorough analysis of COVID-19 pandemic prevention has been conducted using mobile apps, creating a gap.
OBJECTIVE
With the intention of helping software companies and clinical researchers, this study provides comprehensive information regarding the different fields in which mobile apps were used to diagnose COVID-19 during the pandemic.
METHODS
In this systematic review, 535 studies were found after searching 5 major research databases (ScienceDirect, Scopus, PubMed, Web of Science, and IEEE). Of these, only 42 (7.9%) studies concerned with diagnosing and detecting COVID-19 were chosen after applying inclusion and exclusion criteria using the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) protocol.
RESULTS
Mobile apps were categorized into 6 areas based on the content of these 42 studies: contact tracing, data gathering, data visualization, artificial intelligence (AI)-based diagnosis, rule- and guideline-based diagnosis, and data transformation. Patients with COVID-19 were identified via mobile apps using a variety of clinical, geographic, demographic, radiological, serological, and laboratory data. Most studies concentrated on using AI methods to identify people who might have COVID-19. Additionally, symptoms, cough sounds, and radiological images were used more frequently compared to other data types. Deep learning techniques, such as convolutional neural networks, performed comparatively better in the processing of health care data than other types of AI techniques, which improved the diagnosis of COVID-19.
CONCLUSIONS
Mobile apps could soon play a significant role as a powerful tool for data collection, epidemic health data analysis, and the early identification of suspected cases. These technologies can work with the internet of things, cloud storage, 5th-generation technology, and cloud computing. Processing pipelines can be moved to mobile device processing cores using new deep learning methods, such as lightweight neural networks. In the event of future pandemics, mobile apps will play a critical role in rapid diagnosis using various image data and clinical symptoms. Consequently, the rapid diagnosis of these diseases can improve the management of their effects and obtain excellent results in treating patients.
Topics: Humans; COVID-19; Pandemics; Artificial Intelligence; SARS-CoV-2; Mobile Applications; COVID-19 Testing
PubMed: 38231538
DOI: 10.2196/44406 -
JMIR Cancer Jan 2024Breast cancer is a widespread disease, and its incidence is rapidly increasing in the Middle East and North Africa region. With the increasing availability of smartphone...
BACKGROUND
Breast cancer is a widespread disease, and its incidence is rapidly increasing in the Middle East and North Africa region. With the increasing availability of smartphone apps for various health purposes, breast cancer apps have emerged as tools for raising awareness, providing support, and empowering women affected by this disease. These apps offer many features, including information on breast cancer risk factors, self-examination guides, appointment reminders, and community support groups or hotlines. Using apps raises the risk of privacy and security issues, and we hope that examining these features of the apps will contribute to the understanding of how technology can be used to improve these apps and provide insights for future development and improvement of breast cancer apps.
OBJECTIVE
This study aims to critically review the quality, privacy, and security of breast cancer apps available to Arabic speakers.
METHODS
Similar to several recent studies, we used a systematic search for apps available in Google Play and Apple App stores using both the web interface and the built-in native stores installed on smartphones. The search was conducted in mid-December 2022 in Arabic using the following keywords: سرطان الثدي - فحص سرطان الثدي - علاج سرطان الثدي - مرض سرطان الثدي - أعراض سرطان الثدي - فحص الثدي (breast cancer, breast cancer treatment, breast cancer disease, breast cancer symptoms, breast cancer screening, and breast test). These preidentified search terms are based on earlier work concerning the top searched breast cancer topics by Arabic speakers through Google's search engine. We excluded apps that did not have an Arabic interface, were developed for non-Arabic speakers, were paid, needed a subscription, or were directed toward health care workers. The Mobile App Rating Scale was used to evaluate the quality of the apps concerning their engagement, functionality, aesthetics, and information. A risk score was calculated for the apps to determine their security risk factors.
RESULTS
Only 9 apps were included, with most (6/9, 67%) being supported by advertisements and categorized as informational. Overall, the apps had low numbers of downloads (>10 to >1000). The majority of the included apps (8/9, 89%) requested dangerous access permissions, including access to storage, media files, and the camera. The average security score of the included apps was 3.22, while only 2 apps provided information about data security and privacy. The included apps achieved an overall average quality score of 3.27, with individual dimension scores of 4.75 for functionality, 3.04 for information, 3.00 for aesthetics, and 2.32 for engagement.
CONCLUSIONS
The limited availability of breast cancer apps available to Arabic speakers should be a call to action and prompt health care organizations and developers to join forces and collaboratively develop information-rich, usable, functional, engaging, and secure apps.
PubMed: 38227353
DOI: 10.2196/48428