Editorial: LRRK2-Fifteen Years From Cloning to the Clinic.
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ABSTRACT:
SUBMITTER: Rideout H
PROVIDER: S-EPMC9036085 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
Publications
Editorial: LRRK2-Fifteen Years From Cloning to the Clinic.
Rideout Hardy H Greggio Elisa E Kortholt Arjan A Nichols R Jeremy RJ
Frontiers in neuroscience 20220411
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Project description:BMC Medicine was launched in November 2003 as an open access, open peer-reviewed general medical journal that has a broad remit to publish "outstanding and influential research in all areas of clinical practice, translational medicine, medical and health advances, public health, global health, policy, and general topics of interest to the biomedical and sociomedical professional communities". Here, I discuss the last 15 years of epidemiological research published by BMC Medicine, with a specific focus on how this reflects changes occurring in the field of epidemiology over this period; the impact of 'Big Data'; the reinvigoration of debates about causality; and, as we increasingly work across and with many diverse disciplines, the use of the name 'population health science'. Reviewing all publications from the first volume to the end of 2018, I show that most BMC Medicine papers are epidemiological in nature, and the majority of them are applied epidemiology, with few methodological papers. Good research must address important translational questions that should not be driven by the increasing availability of data, but should take appropriate advantage of it. Over the next 15 years it would be good to see more publications that integrate results from several different methods, each with different sources of bias, in a triangulation framework.
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Project description:Apolipoprotein A5 (APOA5) is a small protein, expressed predominantly in the liver. In plasma, it is located on triglyceride rich lipoprotein particles (chylomicrones and VLDL) and on HDL. Plasma concentration of apolipoprotein A5 is very low, suggesting rather regulatory (activation of lipoprotein lipase, …) than structural function. APOA5 is an important determinant of plasma triglyceride concentration; this effect has been confirmed both on animal models, as well as on human studies. Minor alleles of three commonly analysed variants within this gene (rs662799, rs3135506, rs2075291) are associated with higher plasma TG values and increased risk of myocardial infarction, with some important interethnic differences observed. Further roles of APOA5; determination of BMI, diabetes and last but not least nutri- and pharmaco-genetic interactions are suggested, but without the definitive conclusions.
| S-EPMC7108956 | biostudies-literature
Project description:IntroductionEmergency medicine (EM) throughout Africa exists in various stages of development. The number and types of scientific EM literature can serve as a proxy indicator of EM regional development and activity. The goal of this scoping review is a preliminary assessment of potential size and scope of available African EM literature published over 15 years.MethodsWe searched five indexed international databases as well as non-indexed grey literature from 1999-2014 using key search terms including "Africa", "emergency medicine", "emergency medical services", and "disaster." Two trained physician reviewers independently assessed whether each article met one or more of five inclusion criteria, and discordant results were adjudicated by a senior reviewer. Articles were categorised by subject and country of origin. Publication number per country was normalised by 1,000,000 population.ResultsOf 6091 identified articles, 633 (10.4%) were included. African publications increased 10-fold from 1999 to 2013 (9 to 94 articles, respectively). Western Africa had the highest number (212, 33.5%) per region. South Africa had the largest number of articles per country (171, 27.0%) followed by Nigeria, Kenya, and Ghana. 537 (84.8%) articles pertained to facility-based EM, 188 (29.7%) to out-of-hospital emergency medicine, and 109 (17.2%) to disaster medicine. Predominant content areas were epidemiology (374, 59.1%), EM systems (321, 50.7%) and clinical care (262, 41.4%). The most common study design was observational (479, 75.7%), with only 28 (4.4%) interventional studies. All-comers (382, 59.9%) and children (91, 14.1%) were the most commonly studied patient populations. Undifferentiated (313, 49.4%) and traumatic (180, 28.4%) complaints were most common.ConclusionOur review revealed a considerable increase in the growth of African EM literature from 1999 to 2014. Overwhelmingly, articles were observational, studied all-comers, and focused on undifferentiated complaints. The articles discovered in this scoping review are reflective of the relatively immature and growing state of African EM.
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Project description:Balance impairment is a major mechanism behind falling along with environmental hazards. Under physiological conditions, ageing leads to a progressive decline in balance control per se. Moreover, various neurological disorders further increase the risk of falls by deteriorating specific nervous system functions contributing to balance. Over the last 15 years, significant advancements in technology have provided wearable solutions for balance evaluation and the management of postural instability in patients with neurological disorders. This narrative review aims to address the topic of balance and wireless sensors in several neurological disorders, including Alzheimer's disease, Parkinson's disease, multiple sclerosis, stroke, and other neurodegenerative and acute clinical syndromes. The review discusses the physiological and pathophysiological bases of balance in neurological disorders as well as the traditional and innovative instruments currently available for balance assessment. The technical and clinical perspectives of wearable technologies, as well as current challenges in the field of teleneurology, are also examined.
| S-EPMC7308812 | biostudies-literature
Project description:Over the past 15 years, irinotecan has emerged as an important agent for treating pediatric sarcoma patients. This review summarizes the activity noted in previous studies, and outlines current issues regarding scheduling, route of administration, and amelioration of side effects. Also discussed are new pegylated and nanoliposomal formulations of irinotecan and its active metabolite, SN-38, as well as future plans for how irinotecan may be used in combination with other conventional cytotoxic as well as targeted agents.
| S-EPMC4552408 | biostudies-literature
Project description:BackgroundPrevious associations between surgeon volume with adrenalectomy outcomes examined only a sample of procedures. We performed an analysis of all adrenalectomies performed in New York state to assess the effect of surgeon volume and specialty on clinical outcomes.MethodsAdrenalectomies performed in adults were identified from the New York Statewide Planning and Research Cooperative System from 2000-2014. Surgeon specialty, volume, and patient demographics were assessed. High volume was defined using a significance threshold at ≥4 adrenalectomies per year. Outcome variables included in-hospital mortality, duration of stay, and in-hospital complications.ResultsA total of 6,054 adrenalectomies were included. Median patient age was 56 years; 41.9% were men and 68.3% were white. Urologists (n = 462) performed 46.8% of adrenalectomies, general surgeons (n = 599) performed 35.0%, and endocrine surgeons (n = 23) performed 18.1%. Significantly more endocrine surgeons were high-volume compared with urologists and general surgeons (65.2% vs 10.2% and 6.7%, respectively, P < .001). High-volume surgeons had significantly lower mortality compared with low-volume surgeons (0.56% vs 1.25%, P = .004) and a lower rate of complications (10.2% vs 16.4%, P = < .001). Endocrine surgeons were more likely to perform laparoscopic procedures (34.8% vs 22.4% general surgeons and 27.7% US, P < .001) and had the lowest median hospital duration of stay (2 days vs 4 days general surgeons and 3 days urologists, P < .001). After risk adjustment, low surgeon volume was an independent predictor of inpatient complications (odds ratio = 0.96, P = .002).ConclusionPatients with adrenal disease should be referred to surgeons based on adrenalectomy volume regardless of specialty, but most endocrine surgeons that perform adrenalectomy are high-volume for the procedure.
| S-EPMC5903575 | biostudies-literature
Project description:Mutations in the Parkinson's disease (PD) protein Leucine Rich Repeat Kinase 2 (LRRK2) have been under study for more than 15 years and our understanding of the cellular phenotypes for the pathogenic mutant forms of LRRK2 has significantly advanced. In parallel to research on LRRK2 mutations in experimental systems, clinical characterization of patients carrying LRRK2 mutations has advanced, as has the analysis of cells that are derived from these patients, including fibroblasts, blood-derived cells, or cells rendered pluripotent. Under the hypothesis that patient clinical phenotypes are a consequence of a cascade of underlying molecular mechanisms gone astray, we currently have a unique opportunity to compare findings from patients and patient-derived cells to ask the question of whether the clinical phenotype of LRRK2 Parkinson's disease and cellular phenotypes of LRRK2 patient-derived cells may be mutually informative. In this review, we aim to summarize the available information on phenotypes of LRRK2 mutations in the clinic, in patient-derived cells, and in experimental models in order to better understand the relationship between the three at the molecular and cellular levels and identify trends and gaps in correlating the data.
| S-EPMC8145309 | biostudies-literature
Project description:In October 2024 we celebrated the 15th anniversary of the first launch of ChEMBL, Europe's most impactful, open-access drug discovery database, hosted by EMBL's European Bioinformatics Institute (EMBL-EBI). This is a good moment to reflect on ChEMBL's history, the role that ChEMBL plays in Cheminformatics and Drug Discovery as well as innovations accelerated using data extracted from it. The review closes by discussing current challenges and possible directions that need to be taken to guarantee that ChEMBL continues to be the pioneering resource for highly curated, open bioactivity data on the European continent and beyond.
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Project description:IntroductionScabies is a major public health problem in the Pacific and is associated with an increased risk of bacterial skin infections, glomerulonephritis and rheumatic fever. Mass drug administration with ivermectin is a promising strategy for the control of scabies. Mass treatment with ivermectin followed by active case finding was conducted in five communities in the Solomon Islands between 1997 and 2000 and resulted in a significant reduction in the prevalence of both scabies and bacterial skin infections.MethodsWe conducted a prospective follow-up study of the communities where the original scabies control programme had been undertaken. All residents underwent a standardised examination for the detection of scabies and impetigo.ResultsThree hundred and thirty eight residents were examined, representing 69% of the total population of the five communities. Only 1 case of scabies was found, in an adult who had recently returned from the mainland. The prevalence of active impetigo was 8.8% overall and 12.4% in children aged 12 years or less.DiscussionWe found an extremely low prevalence of scabies 15 years after the cessation of a scabies control programme. The prevalence of impetigo had also declined further since the end of the control programme. Our results suggest that a combination of mass treatment with ivermectin and intensive active case finding may result in long term control of scabies. Larger scale studies and integration with other neglected tropical disease control programmes should be priorities for scabies control efforts.
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