ABSTRACT
BACKGROUND: Goats were domesticated in the Fertile Crescent about 10,000 years before present (YBP) and subsequently spread across Eurasia and Africa. This dispersal is expected to generate a gradient of declining genetic diversity with increasing distance from the areas of early livestock management. Previous studies have reported the existence of such genetic cline in European goat populations, but they were based on a limited number of microsatellite markers. Here, we have analyzed data generated by the AdaptMap project and other studies. More specifically, we have used the geographic coordinates and estimates of the observed (Ho) and expected (He) heterozygosities of 1077 European, 1187 African and 617 Asian goats belonging to 38, 43 and 22 different breeds, respectively, to find out whether genetic diversity and distance to Ganj Dareh, a Neolithic settlement in western Iran for which evidence of an early management of domestic goats has been obtained, are significantly correlated. RESULTS: Principal component and ADMIXTURE analyses revealed an incomplete regional differentiation of European breeds, but two genetic clusters representing Northern Europe and the British-Irish Isles were remarkably differentiated from the remaining European populations. In African breeds, we observed five main clusters: (1) North Africa, (2) West Africa, (3) East Africa, (4) South Africa, and (5) Madagascar. Regarding Asian breeds, three well differentiated West Asian, South Asian and East Asian groups were observed. For European and Asian goats, no strong evidence of significant correlations between Ho and He and distance to Ganj Dareh was found. In contrast, in African breeds we detected a significant gradient of diversity, which decreased with distance to Ganj Dareh. CONCLUSIONS: The detection of a genetic cline associated with distance to the Ganj Dareh in African but not in European or Asian goat breeds might reflect differences in the post-domestication dispersal process and subsequent migratory movements associated with the management of caprine populations from these three continents.
Subject(s)
Genetic Variation , Goats , Microsatellite Repeats , Animals , Goats/genetics , Europe , Africa , Asia , Domestication , Genetics, Population , Heterozygote , PhylogeographyABSTRACT
The study aimed to validate the Jenkins Sleep Scale (JSS-4) in six Spanish-Speaking countries. A total of 1726 people participated and were distributed between men (32.4%) and women (67.6%). Confirmatory factor analysis confirmed the unidimensional structure and high reliability of the JSS-4 overall (α = 0.85, ω = 0.81) and within each country. The invariance analysis revealed that JSS-4 exhibited complete invariance across countries, thus establishing a robust foundation for inter-group comparisons. Interestingly, a comparative analysis revealed significant differences in the average levels of sleep difficulties, with particularly high rates in Spain and Chile. Item Response Theory (IRT) showed sufficient discrimination parameters for all items, and a correlation of 0.998 between Confirmatory Factor Analysis (CFA) and IRT highlighted the robustness and reliability of the results obtained. In summary, JSS-4 exhibits strong evidence of validity and consistency in measurement invariance across the six countries.
ABSTRACT
Iron accumulation in tumors contributes to disease progression and chemoresistance. While targeting this process can influence various hallmarks of cancer, the immunomodulatory effects of iron chelation in the tumor microenvironment are unknown. Here, we report that treatment with deferiprone, an FDA-approved iron chelator, unleashes innate immune responses that restrain ovarian cancer. Deferiprone reprogrammed ovarian cancer cells towards an immunostimulatory state characterized by production of type I interferon (IFN) and overexpression of molecules that activate natural killer (NK) cells. Mechanistically, these effects were driven by innate sensing of mitochondrial DNA in the cytosol and concomitant activation of nuclear DNA damage responses triggered upon iron chelation. Deferiprone synergized with chemotherapy and prolonged the survival of mice with ovarian cancer by bolstering type I IFN responses that drove NK cell-dependent control of metastatic disease. Hence, iron chelation may represent an alternative immunotherapeutic strategy for malignancies that are refractory to current T cell-centric modalities.
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Introduction: Dance, as a performance activity, is associated with various problems. Among these challenges, sleep disturbances are notably prevalent. Aims: This study aimed to explore the potential relationship between sleep characteristics-specifically chronotype and subjective sleep quality- and psychological inflexibility in dance students. Methods: This research adopted a cross-sectional design using non-probabilistic sampling. The data were collected in paper format by visiting public conservatories and private academies, and online. One hundred fourteen dance students, with a mean age of 23.87 years, participated in the study. Assessment tools included the Acceptance and Action Questionnaire-II, Pittsburgh Sleep Quality Index, and the Composite Scale of Morningness. Results: The results revealed that 80.7% of all students reported poor sleep quality, compared to 19.3% who reported good sleep quality. Differences emerged in both subjective sleep quality (F(2, 113) = 4.825, P = .010) and chronotype (F(2, 113) = 6.172, P = .003) when students were grouped according to low, medium, or high levels of psychological inflexibility. Those with low inflexibility, as opposed to those with high inflexibility, report better sleep quality, with no differences observed between medium and high inflexibility groups. Students with high-medium levels of psychological inflexibility showed a higher risk (OR = 6.373 times higher) of experiencing poor sleep quality compared to those with low psychological inflexibility. In terms of chronotype, the low inflexibility group is inclined to be more of a morning type than the medium and high inflexibility groups, with no differences between the latter 2 groups. Students categorized as having low inflexibility tend to have a longer history of dancing under the guidance of a teacher and dedicate more hours and days per week to rehearsal. Conclusion: Conservatories can become "healthy spaces." In this regard, sleep hygiene programs and Acceptance and Commitment Therapy interventions can provide guidance to professionals working with dancers in professional companies and conservatories.
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BACKGROUND: Prostate cancer (PC) is the second most frequent tumor in men worldwide; however, its etiology remains largely unknown, with the exception of age and family history. The wide variability in incidence/mortality across countries suggests a certain role for environmental exposures that has not yet been clarified. OBJECTIVE: To evaluate the association between risk of PC (by clinical profile) and residential proximity to pollutant industrial installations (by industrial groups, groups of carcinogens, and specific pollutants released), within the context of a Spanish population-based multicase-control study of incident cancer (MCC-Spain). METHODS: This study included 1186 controls and 234 PC cases, frequency matched by age and province of residence. Distances from participants' residences to the 58 industries located in the study area were calculated and categorized into "near" (considering different limits between ≤1 km and ≤ 3 km) or "far" (>3 km). Odds ratios (ORs) and 95 % confidence intervals (95%CIs) were estimated using mixed and multinomial logistic regression models, adjusted for potential confounders and matching variables. RESULTS: No excess risk was detected near the overall industries, with ORs ranging from 0.66 (≤2 km) to 1.11 (≤1 km). However, positive associations (OR; 95%CI) were found, by industrial group, near (≤3 km) industries of ceramic (2.54; 1.28-5.07), food/beverage (2.18; 1.32-3.62), and disposal/recycling of animal waste (2.67; 1.12-6.37); and, by specific pollutant, near plants releasing fluorine (4.65; 1.45-14.91 at ≤1.5 km) and chlorine (5.21; 1.56-17.35 at ≤1 km). In contrast, inverse associations were detected near industries releasing ammonia, methane, dioxins+furans, polycyclic aromatic hydrocarbons, trichloroethylene, and vanadium to air. CONCLUSIONS: The results suggest no association between risk of PC and proximity to the overall industrial installations. However, some both positive and inverse associations were detected near certain industrial groups and industries emitting specific pollutants.
Subject(s)
Environmental Exposure , Prostatic Neoplasms , Spain/epidemiology , Male , Humans , Prostatic Neoplasms/epidemiology , Environmental Exposure/statistics & numerical data , Middle Aged , Aged , Industry , Case-Control Studies , Risk Factors , Environmental Pollutants/analysisABSTRACT
Maintenance of astronaut health during spaceflight will require monitoring and potentially modulating their microbiomes. However, documenting microbial shifts during spaceflight has been difficult due to mission constraints that lead to limited sampling and profiling. Here we executed a six-month longitudinal study to quantify the high-resolution human microbiome response to three days in orbit for four individuals. Using paired metagenomics and metatranscriptomics alongside single-nuclei immune cell profiling, we characterized time-dependent, multikingdom microbiome changes across 750 samples and 10 body sites before, during and after spaceflight at eight timepoints. We found that most alterations were transient across body sites; for example, viruses increased in skin sites mostly during flight. However, longer-term shifts were observed in the oral microbiome, including increased plaque-associated bacteria (for example, Fusobacteriota), which correlated with immune cell gene expression. Further, microbial genes associated with phage activity, toxin-antitoxin systems and stress response were enriched across multiple body sites. In total, this study reveals in-depth characterization of microbiome and immune response shifts experienced by astronauts during short-term spaceflight and the associated changes to the living environment, which can help guide future missions, spacecraft design and space habitat planning.
Subject(s)
Astronauts , Bacteria , Metagenomics , Microbiota , Space Flight , Humans , Longitudinal Studies , Microbiota/immunology , Bacteria/classification , Bacteria/genetics , Bacteria/immunology , Male , Gene Expression Profiling , Adult , Middle Aged , Female , Transcriptome , MultiomicsABSTRACT
Spaceflight induces molecular, cellular and physiological shifts in astronauts and poses myriad biomedical challenges to the human body, which are becoming increasingly relevant as more humans venture into space1-6. Yet current frameworks for aerospace medicine are nascent and lag far behind advancements in precision medicine on Earth, underscoring the need for rapid development of space medicine databases, tools and protocols. Here we present the Space Omics and Medical Atlas (SOMA), an integrated data and sample repository for clinical, cellular and multi-omic research profiles from a diverse range of missions, including the NASA Twins Study7, JAXA CFE study8,9, SpaceX Inspiration4 crew10-12, Axiom and Polaris. The SOMA resource represents a more than tenfold increase in publicly available human space omics data, with matched samples available from the Cornell Aerospace Medicine Biobank. The Atlas includes extensive molecular and physiological profiles encompassing genomics, epigenomics, transcriptomics, proteomics, metabolomics and microbiome datasets, which reveal some consistent features across missions, including cytokine shifts, telomere elongation and gene expression changes, as well as mission-specific molecular responses and links to orthologous, tissue-specific mouse datasets. Leveraging the datasets, tools and resources in SOMA can help to accelerate precision aerospace medicine, bringing needed health monitoring, risk mitigation and countermeasure data for upcoming lunar, Mars and exploration-class missions.
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BACKGROUND: In addition to other stroke-related deficits, the risk of seizures may impact driving ability after stroke. METHODS: We analysed data from a multicentre international cohort, including 4452 adults with acute ischaemic stroke and no prior seizures. We calculated the Chance of Occurrence of Seizure in the next Year (COSY) according to the SeLECT2.0 prognostic model. We considered COSY<20% safe for private and <2% for professional driving, aligning with commonly used cut-offs. RESULTS: Seizure risks in the next year were mainly influenced by the baseline risk-stratified according to the SeLECT2.0 score and, to a lesser extent, by the poststroke seizure-free interval (SFI). Those without acute symptomatic seizures (SeLECT2.0 0-6 points) had low COSY (0.7%-11%) immediately after stroke, not requiring an SFI. In stroke survivors with acute symptomatic seizures (SeLECT2.0 3-13 points), COSY after a 3-month SFI ranged from 2% to 92%, showing substantial interindividual variability. Stroke survivors with acute symptomatic status epilepticus (SeLECT2.0 7-13 points) had the highest risk (14%-92%). CONCLUSIONS: Personalised prognostic models, such as SeLECT2.0, may offer better guidance for poststroke driving decisions than generic SFIs. Our findings provide practical tools, including a smartphone-based or web-based application, to assess seizure risks and determine appropriate SFIs for safe driving.
Subject(s)
Automobile Driving , Ischemic Stroke , Seizures , Humans , Seizures/etiology , Seizures/complications , Ischemic Stroke/complications , Male , Female , Aged , Middle Aged , Risk Factors , Aged, 80 and over , Prognosis , Cohort Studies , AdultABSTRACT
Background: Video-oculography constitutes a highly-sensitive method of characterizing ocular movements, which could detect subtle premotor changes and contribute to the early diagnosis of Parkinson's disease (PD). Objective: To investigate potential oculomotor differences between idiopathic PD (iPD) and PD associated with the G2019S variant of LRRK2 (L2PD), as well as to evaluate oculomotor function in asymptomatic carriers of the G2019S variant of LRRK2. Methods: The study enrolled 129 subjects: 30 PD (16 iPD, 14 L2PD), 23 asymptomatic carriers, 13 non-carrier relatives of L2PD patients, and 63 unrelated HCs. The video-oculographic evaluation included fixation, prosaccade, antisaccade, and memory saccade tests. Results: We did not find significant differences between iPD and L2PD. Compared to controls, PD patients displayed widespread oculomotor deficits including larger microsaccades, hypometric vertical prosaccades, increased latencies in all tests, and lower percentages of successful antisaccades and memory saccades. Non-carrier relatives showed oculomotor changes with parkinsonian features, such as fixation instability and hypometric vertical saccades. Asymptomatic carriers shared multiple similarities with PD, including signs of unstable fixation and hypometric vertical prosaccades; however, they were able to reach percentages of successful antisaccade and memory saccades similar to controls, although at the expense of longer latencies. Classification accuracy of significant oculomotor parameters to differentiate asymptomatic carriers from HCs ranged from 0.68 to 0.74, with BCEA, a marker of global fixation instability, being the parameter with the greatest classification accuracy. Conclusions: iPD and LRRK2-G2019S PD patients do not seem to display a differential oculomotor profile. Several oculomotor changes in asymptomatic carriers of LRRK2 mutations could be considered premotor biomarkers.
Subject(s)
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 , Parkinson Disease , Humans , Leucine-Rich Repeat Serine-Threonine Protein Kinase-2/genetics , Parkinson Disease/physiopathology , Parkinson Disease/genetics , Parkinson Disease/complications , Parkinson Disease/diagnosis , Female , Male , Middle Aged , Aged , Ocular Motility Disorders/etiology , Ocular Motility Disorders/physiopathology , Ocular Motility Disorders/genetics , Ocular Motility Disorders/diagnosis , Saccades/physiology , Heterozygote , AdultABSTRACT
Improving human healthspan in our rapidly aging population has never been more imperative. Telomeres, protective "caps" at the ends of linear chromosomes, are essential for maintaining genome stability of eukaryotic genomes. Due to their physical location and the "end-replication problem" first envisioned by Dr. Alexey Olovnikov, telomeres shorten with cell division, the implications of which are remarkably profound. Telomeres are hallmarks and molecular drivers of aging, as well as fundamental integrating components of the cumulative effects of genetic, lifestyle, and environmental factors that erode telomere length over time. Ongoing telomere attrition and the resulting limit to replicative potential imposed by cellular senescence serves a powerful tumor suppressor function, and also underlies aging and a spectrum of age-related degenerative pathologies, including reduced fertility, dementias, cardiovascular disease and cancer. However, very little data exists regarding the extraordinary stressors and exposures associated with long-duration space exploration and eventual habitation of other planets, nor how such missions will influence telomeres, reproduction, health, disease risk, and aging. Here, we briefly review our current understanding, which has advanced significantly in recent years as a result of the NASA Twins Study, the most comprehensive evaluation of human health effects associated with spaceflight ever conducted. Thus, the Twins Study is at the forefront of personalized space medicine approaches for astronauts and sets the stage for subsequent missions. We also extrapolate from current understanding to future missions, highlighting potential biological and biochemical strategies that may enable human survival, and consider the prospect of longevity in the extreme environment of space.
Subject(s)
Aging , Telomere , Humans , Aging/genetics , Cellular Senescence , Longevity/genetics , Planets , Twin Studies as TopicABSTRACT
Italy has a long history in beef production, with local breeds such as Marchigiana, Chianina, Romagnola, Maremmana, and Podolica which produce high-quality meat. Selection has improved meat production, precocity, growth ability and muscle development, but the genetic determinism of such traits is mostly unknown. Using 33K SNPs-data from young bulls (N = 4064) belonging to these five Italian breeds, we demonstrated that the Maremmana and Podolica rustic breeds are closely related, while the specialised Marchigiana, Chianina, and Romagnola breeds are more differentiated. A genome-wide association study for growth and muscle development traits (average daily gain during the performance test, weight at 1 year old, muscularity) was conducted in the five Italian breeds. Results indicated a region on chromosome 2, containing the myostatin gene (MSTN), which displayed significant genome-wide associations with muscularity in Marchigiana cattle, a breed in which the muscle hypertrophy phenotype is segregating. Moreover, a significant SNP on chromosome 14 was associated, in the Chianina breed, to muscularity. The identification of diverse genomic regions associated with conformation traits might increase our knowledge about the genomic basis of such traits in Italian beef cattle and, eventually, such information could be used to implement marker-assisted selection of young bulls tested in the performance test.
Subject(s)
Genome-Wide Association Study , Genomics , Cattle/genetics , Animals , Male , Humans , Chromosomes, Human, Pair 14 , Italy , PhenotypeABSTRACT
BACKGROUND: Mammographic density (MD) is the most important breast cancer biomarker. Ambient pollution is a carcinogen, and its relationship with MD is unclear. This study aims to explore the association between exposure to traffic pollution and MD in premenopausal women. METHODOLOGY: This Spanish cross-sectional study involved 769 women attending gynecological examinations in Madrid. Annual Average Daily Traffic (AADT), extracted from 1944 measurement road points provided by the City Council of Madrid, was weighted by distances (d) between road points and women's addresses to develop a Weighted Traffic Exposure Index (WTEI). Three methods were employed: method-1 (1dAADT), method-2 (1dAADT), and method-3 (e1dAADT). Multiple linear regression models, considering both log-transformed percentage of MD and untransformed MD, were used to estimate MD differences by WTEI quartiles, through two strategies: "exposed (exposure buffers between 50 and 200 m) vs. not exposed (>200 m)"; and "degree of traffic exposure". RESULTS: Results showed no association between MD and traffic pollution according to buffers of exposure to the WTEI (first strategy) for the three methods. The highest reductions in MD, although not statistically significant, were detected in the quartile with the highest traffic exposure. For instance, method-3 revealed a suggestive inverse trend (eßQ1 = 1.23, eßQ2 = 0.96, eßQ3 = 0.85, eßQ4 = 0.85, p-trend = 0.099) in the case of 75 m buffer. Similar non-statistically significant trends were observed with Methods-1 and -2. When we examined the effect of traffic exposure considering all the 1944 measurement road points in every participant (second strategy), results showed no association for any of the three methods. A slightly decreased MD, although not significant, was observed only in the quartile with the highest traffic exposure: eßQ4 = 0.98 (method-1), and eßQ4 = 0.95 (methods-2 and -3). CONCLUSIONS: Our results showed no association between exposure to traffic pollution and MD in premenopausal women. Further research is needed to validate these findings.
Subject(s)
Breast Density , Environmental Exposure , Premenopause , Humans , Female , Environmental Exposure/statistics & numerical data , Cross-Sectional Studies , Adult , Spain , Traffic-Related Pollution/adverse effects , Breast Neoplasms/epidemiology , Middle Aged , Vehicle Emissions/analysis , Mammography , Air Pollutants/analysisABSTRACT
BACKGROUND: Latin America (LATAM) is a large region from Mexico to southern Patagonia in Chile and includes most islands in the Caribbean where Spanish is an official language. Efforts to address nursing specialization in the care of patients with cancer throughout the cancer continuum are described in narratives of oncology nursing struggles and achievements from eight Latin American countries. METHODS: Contributions by authors from Mexico, Costa Rica, Ecuador, Brazil and Chile are complemented by interview data (in Spanish by a bilingual medical anthropologist) to share the history and present status in the Dominican Republic, Peru and Argentina. RESULTS: We present stories of the pioneers of oncology nursing and a brief description of health systems in several of the included countries to show the disparate approaches towards cancer control and the context in which the oncology nurses work. We include key demographics and cancer data from the highlighted countries. We follow with descriptions of the formation and importance of oncology nursing associations/societies and share the history of oncology nursing education efforts, scopes of practice and recommendations for improvement in oncology nursing. CONCLUSIONS: Despite the challenges, oncology nurse leaders across LATAM are determined to raise the standards of care with structured specialization education/training, and to create advanced practice oncology nursing roles. It is critical that the achievements of oncology nurses are nationally acknowledged and appropriately compensated by governments and national and local authorities. The future is now for oncology nursing to be recognized as a critical specialized healthcare workforce to effectively address the growing threat of cancer and to ensure optimal control of this public health crisis across the region.
Subject(s)
Neoplasms , Oncology Nursing , Humans , Latin America , Mexico , Public HealthABSTRACT
Antimicrobial resistance (AMR) poses a critical threat to global health and development, with environmental factors-particularly in urban areas-contributing significantly to the spread of antibiotic resistance genes (ARGs). However, most research to date has been conducted at a local level, leaving significant gaps in our understanding of the global status of antibiotic resistance in urban environments. To address this issue, we thoroughly analyzed a total of 86,213 ARGs detected within 4,728 metagenome samples, which were collected by the MetaSUB International Consortium involving diverse urban environments in 60 cities of 27 countries, utilizing a deep-learning based methodology. Our findings demonstrated the strong geographical specificity of urban environmental resistome, and their correlation with various local socioeconomic and medical conditions. We also identified distinctive evolutionary patterns of ARG-related biosynthetic gene clusters (BGCs) across different countries, and discovered that the urban environment represents a rich source of novel antibiotics. Our study provides a comprehensive overview of the global urban environmental resistome, and fills a significant gap in our knowledge of large-scale urban antibiotic resistome analysis.
Subject(s)
Anti-Bacterial Agents , Cities , Humans , Anti-Bacterial Agents/pharmacology , Socioeconomic Factors , Metagenome/genetics , Drug Resistance, Bacterial/genetics , Drug Resistance, Microbial/genetics , Genes, Bacterial , Bacteria/genetics , Bacteria/drug effects , Bacteria/classification , Multigene Family , Global HealthABSTRACT
The brain regulates multiple metabolic processes, such as food intake, energy expenditure, insulin secretion, hepatic glucose production, and glucose and fatty acid metabolism in adipose tissue, which are fundamental for the maintenance of energy and glucose homeostasis during lactation and pregnancy. In addition, brain expression has a fundamental impact on the development of maternal behavior. Although brain functions are partly regulated by long noncoding RNAs (lncRNAs), their expression profiles have not been characterized in depth in any ruminant species. We have sequenced the transcriptome of 12 brain tissues from 3 goats that were 1 mo pregnant and 4 nonpregnant goats to investigate their lncRNA expression patterns. Between 4,363 (adenohypophysis) and 4,604 (olfactory bulb) lncRNAs were expressed in brain tissues, leading us to establish a set of 794 already annotated lncRNAs and 5,098 novel lncRNA candidates. The detected lncRNAs shared features with those of other mammals, and tissue-specific lncRNAs were enriched in brain development-related terms. Differential expression analyses between goats that were 1 mo pregnant and nonpregnant goats showed that the lncRNA expression profiles of certain brain regions experience substantial changes associated with early pregnancy (238 lncRNAs are differentially expressed in the olfactory bulb), but others do not. Enrichment analysis showed that differentially expressed lncRNAs from the olfactory bulb are co-expressed with genes previously linked to behavioral changes related to pregnancy. These findings provide a first characterization of the landscape of lncRNA expression in the goat brain and provides valuable clues to understand the molecular events triggered by early pregnancy in the central nervous system.
Subject(s)
Brain , Goats , RNA, Long Noncoding , Animals , Goats/genetics , Goats/metabolism , RNA, Long Noncoding/genetics , RNA, Long Noncoding/metabolism , Female , Brain/metabolism , Pregnancy , Transcriptome , Lactation/geneticsABSTRACT
IMPORTANCE: A reliable evaluation of anterolateral rotatory instability in the anterior cruciate ligament (ACL) deficient knee is important to help surgeons determine which patients might need concurrent anterolateral augmentation procedures. OBJECTIVE: The purpose of this study was to systematically review studies that assess the intra-observer and inter-observer reliability of instruments used to measure anterolateral rotatory laxity of the knee. EVIDENCE REVIEW: A comprehensive literature review was conducted according to the 2020 Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement, using PubMed, Embase, Scopus, and Google Scholar databases for original, English-language studies evaluating the reliability of objective or instrument-based anterolateral rotatory laxity of the knee until October 31, 2022. Reliability data were extracted from text, tables, and figures. FINDINGS: Twelve studies, with patients between the ages of 14-63 years, were included. The instruments used to measure anterolateral rotatory knee laxity included inertial sensors (n â= â9), magnetic resonance imaging (n â= â1), and navigation systems (n â= â2). The global intra-observer intraclass correlation coefficient for these devices was between 0.63 and 0.97, and the global inter-observer reliability was between 0.63 and 0.99. CONCLUSION AND RELEVANCE: Instrument-based anterolateral rotatory knee laxity assessment has moderate to good intra- and inter-observer reliability. Evaluating anterolateral instability in ACL-deficient knees with these devices could help in decision-making when considering anterolateral augmentation. LEVEL OF EVIDENCE: IV.
Subject(s)
Anterior Cruciate Ligament Injuries , Joint Instability , Humans , Adolescent , Young Adult , Adult , Middle Aged , Anterior Cruciate Ligament Injuries/diagnosis , Anterior Cruciate Ligament Injuries/surgery , Reproducibility of Results , Joint Instability/diagnosis , Joint Instability/surgery , Knee Joint/surgery , Anterior Cruciate Ligament/surgeryABSTRACT
Milk yield and composition phenotypes are systematically recorded across several lactations in goats, but the majority of genome-wide association studies (GWAS) performed so far have rather ignored the longitudinal nature of such data. Here, we have used two different GWAS approaches to analyse data from three lactations recorded in Murciano-Granadina goats. In Analysis 1, independent GWAS have been carried out for each trait and lactation, while a single longitudinal GWAS, jointly considering all data, has been performed in Analysis 2. In both analyses, genome-wide significant QTL for lactose percentage on chromosome 2 (129.77-131.01 Mb) and for milk protein percentage on the chromosome 6 (74.8-94.6 Mb) casein gene cluster region were detected. In Analysis 1, several QTL were not replicated in all three lactations, possibly due to the existence of lactation-specific genetic determinants. In Analysis 2, we identified several genome-wide significant QTL related to milk yield and protein content that were not uncovered in Analysis 1. The increased number of QTL identified in Analysis 2 suggests that the longitudinal GWAS is particularly well suited for the genetic analysis of dairy traits. Moreover, our data confirm that variability within or close to the casein complex is the main genetic determinant of milk protein percentage in Murciano-Granadina goats.