Inbreeding and relationship metrics among and within populations are useful measures for genetic management of wild populations, but accuracy and precision of estimates can be influenced by the number of individual genotypes analysed. Biologists are confronted with varied advice regarding the sample size necessary for reliable estimates when using genomic tools. We developed a simulation framework to identify the optimal sample size for three widely used metrics to enable quantification of expected variance and relative bias of estimates and a comparison of results among populations. We applied this approach to analyse empirical genomic data for 30 individuals from each of four different free-ranging Rocky Mountain bighorn sheep (Ovis canadensis canadensis) populations in Montana and Wyoming, USA, through cross-species application of an Ovine array and analysis of approximately 14,000 single nucleotide polymorphisms (SNPs) after filtering. We examined intra- and interpopulation relationships using kinship and identity by state metrics, as well as F between populations. By evaluating our simulation results, we concluded that a sample size of 25 was adequate for assessing these metrics using the Ovine array to genotype Rocky Mountain bighorn sheep herds. However, we conclude that a universal sample size rule may not be able to sufficiently address the complexities that impact genomic kinship and inbreeding estimates. Thus, we recommend that a pilot study and sample size simulation using R code we developed that includes empirical genotypes from a subset of populations of interest would be an effective approach to ensure rigour in estimating genomic kinship and population differentiation.
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http://dx.doi.org/10.1111/1755-0998.12898 | DOI Listing |
Mov Disord
January 2025
Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität (LMU) München, Munich, Germany.
Background: The recent Movement Disorders Society (MDS)-progressive supranuclear palsy (PSP) diagnostic criteria conceptualized three clinical diagnostic certainty levels: "suggestive of PSP" for sensitive early diagnosis based on subtle clinical signs, "possible PSP" balancing sensitivity and specificity, and "probable PSP" highly specific for PSP pathology.
Objective: The aim of this study was to prospectively validate the criteria against long-term clinical follow-up and characterize the diagnostic certainty increase over time.
Methods: Patients with "possible PSP" or "suggestive of PSP" diagnosis and clinical follow-up were recruited in two German multicenter longitudinal observational studies (ProPSP and DescribePSP).
J Clin Med
December 2024
Pető András Faculty, Semmelweis University, 1125 Budapest, Hungary.
Cerebral palsy (CP) manifests with abnormal posture and impaired selective motor control, notably affecting trunk control and dynamic balance coordination, leading to inadequate postural control. Previous research has indicated the benefits of pulsed electromagnetic field (PEMF) therapy for various musculoskeletal and neurological conditions. Therefore, we conducted a randomized pilot study to assess the feasibility of our preliminary research design and examine the effect of the PEMF treatment among children with CP.
View Article and Find Full Text PDFJ Clin Med
December 2024
Molecular Biology Department, Surgery and Cardiovascular Biomedicine, National Institute of Cardiology Ignacio Chávez, Juan Badiano 1, Tlalpan, Mexico City 14080, Mexico.
Aortic valve calcification results from degenerative processes associated with several pathologies. These processes are influenced by age, chronic inflammation, and high concentrations of phosphate ions in the plasma, which contribute to induce mineralization in the aortic valve and deterioration of cardiovascular health. Environmental factors, such as wood smoke that emits harmful and carcinogenic pollutants, carbon monoxide (CO), and nitrogen oxide (NO), as well as other reactive compounds may also be implicated.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Emergency Medicine, Chonnam National University Hospital, Gwangju 61469, Republic of Korea.
: Sudden cardiac death (SCD) poses a significant burden on the modern-day public health system; however, while our understanding of the underlying pathophysiology is still evolving and may not be complete, many insights are known and applied every day. Targeted prevention methods are continually being developed and refined. We conducted a systemic review and meta-analysis to identify a blood nutritional biomarker that can predict and screen population groups at high risk for cardiovascular disease mortality (CVD mortality) or SCD.
View Article and Find Full Text PDFJ Clin Med
December 2024
Department of Rehabilitation and Physiotherapy, Medical University of Lublin, 20-093 Lublin, Poland.
: Temporomandibular disorders (TMDs) represent a significant public health issue, among which masticatory muscle pain is the most common. Current publications increasingly indicate surface electromyography (sEMG) as an effective diagnostic tool for muscle dysfunctions that may be employed in TMDs recognition. The objective of this study was to establish reference ranges for TMDs patients with masticatory muscle pain and healthy individuals in the electromyographic Functional Clenching Index (FCI) for the temporalis muscles (TAs) and masseter muscles (MMs).
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