Miracle-dz/UniFAR-FTUs huggingface dataset:
Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?

Chromothripsis, which is the local massive shattering of one or more chromosomes and their reassembly in a disordered array with frequent loss of some fragments, has been mainly reported in association with abnormal phenotypes. We report three unrelated healthy persons, two of which parenting a child with some degree of intellectual disability, carrying a chromothripsis involving respectively one, two, and three chromosomes, which was detected only after whole‐genome sequencing. Unexpectedly, in all three cases a fragment from one of the chromothripsed chromosomes resulted to be inserted within a nonchromothripsed one.
Ultrasound anatomy of the normal stifle in the sheep

Though the ovine stifle is commonly used as a model in research, there is no description of its anatomy at ultrasonography (US). The objective of this study was to provide reference US images of the ovine stifle that are relevant in musculoskeletal research. Four pairs of hindlimbs were scanned, whilst four other pairs were frozen and cut in different planes to compare gross anatomy to US scans. In another pair, the synovial compartments of the stifle were injected and scanned. This study demonstrated that US could be used to assess the ovine stifle. Several structures of clinical interest could be identified with cranial, lateral and medial approaches, such as (a) the tendons of m. quadriceps femoris, m. gluteobiceps, m. popliteus, (b) the common tendon of m. peroneus tertius–extensor longus digitorum–extensor digiti III proprius, (c) the patellar ligament, (d) the medial and lateral collateral ligaments, (e) the cranial horn and middle segment of medial and lateral meniscus, and (f) the synovial recesses. However, the caudal approach was not successful to identify caudal anatomical structures of the joint, due to the muscular mass, that is the caudal aspects of the articular surfaces of the femoral and tibial condyles, the caudal horns of the menisci and the supracondylar synovial recesses. In addition, US remained challenging to assess the internal structures such as cruciate ligaments and articular surfaces. The feasibility of US needs to be tested in vivo.
Rabbit Model of Extending Knee Joint Contracture: Progression of Joint Motion Restriction and Subsequent Joint Capsule Changes after Immobilization

Abstract This study aimed to develop a rabbit model of knee contracture in extension and investigate the natural history of motion loss and time-dependent changes in the joint capsule after immobilization. We immobilized the unilateral knee joints of 32 rabbits by maintaining the knee joint in a plaster cast at full extension. Eight rabbits were euthanized at 2, 4, 6, and 8 weeks after casting, respectively, and the lower extremities were disarticulated at the hip joint. Eight control group rabbits that did not undergo immobilization were also examined. We assessed the progression of joint contracture by measuring the joint range of motion, evaluating the histologic alteration of the capsule, and assessing the mRNA levels of transforming growth factor β1 (TGF-β1) in the anterior and posterior joint capsules. After 2 weeks of joint immobilization, the knee joint range of motion was limited, the synovial membrane of the suprapatellar and posterior joint capsules was thickened, the collagen deposition was increased, and the mRNA levels of TGF-β1 were elevated in the anterior and posterior joint capsules. These changes progressed rapidly until 6 weeks of immobilization and may advance slowly after 6 weeks. Joint contracture developed at the early stage of immobilization and progressed over time. The changes in the anterior and posterior joint capsules after joint immobilization may contribute to the limitation in flexion. The elevated mRNA expression of TGF-β1 may be related to joint capsule fibrosis and may be one of the causes of joint contracture.
LAYANAN INFORMASI KARIR MEMBANTU PESERTA DIDIK DALAM MENINGKATKAN PEMAHAMAN KARIR

Peserta didik akan selalu dihadapkan dengan sejumlah alternatif, baik yang berhubungan kehidupan pribadi, sosial, belajar maupun kariernya. Mereka sering mengalami kesulitan untuk mengambil keputusan dalam menentukan alternatif mana yang harus dipilih. Salah satunya adalah kesulitan dalam memahami diri yang berkaitan dengan karirnya dan pengambilan keputusan yang berhubungan dengan rencana-rencana karier yang akan dipilih untuk masa depannya. Kesulitan-kesulitan untuk mengambil keputusan karier dapat dihindari ketika siswa memiliki sejumlah informasi yang memadai tentang hal-hal yang berhubungan dengan dunia kariernya. Karena itu mereka perlu mendapatkan layanan informassi karir, bimbingan dan pendampingan secara penuh supaya memperoleh pemahaman yang memadai tentang berbagai kondisi dan karakteristik dirinya, baik tentang bakat, minat, cita-cita, berbagai kekuatan serta kelemahan yang ada dalam dirinya dan tidak salah dalam menentukan karir yang dipilihnya.
Studies on the performance of selective laser melting porous dental implant by finite element model simulation, fatigue testing and in vivo experiments

Biomaterials have been widely used for stomatological reconstructive surgery in recent years. Many studies have demonstrated that the porous structure of an implant promotes bone ingrowth and its stiffness can be controlled via the design of the porosity. Although some researchers have paid attention to investigating the porous structure for dental implants, the biomechanical properties and osseointegration have not been well studied. In this study, finite element analysis and experiments have been used to evaluate the biomechanical performance and osseointegration of dental implants with porous/solid structures fabricated by selective laser melting using commercially pure titanium (CP-Ti, Grade 2). The implants were tested and the fracture surfaces were observed by scanning electron microscope to investigate the failure mechanisms. To reduce bone resorption, the porosity of dental implant was designed to optimize its stiffness. Finally, animal experiments revealed that bone tissue ingrowth was seen into the porous structure. It is believed that the porous dental implants have great potential in future applications.
Immunohistochemical characteristic of C cells in European bison thyroid gland.

INTRODUCTION C cells constitute a small percentage of thyroid gland parenchyma. The number, morphology and distribution of C cells differ among species; however, data regarding their characteristics in European bison are sparse. The aim of this study was to evaluate the morphology, distribution pattern and percentage of C cells in European bison thyroid gland together with morphometric analysis. MATERIAL AND METHODS Thyroid glands from 28 European bisons of different sex and age were collected either in autumn-winter (13/28) or in spring-summer (15/28) periods and analyzed by immunohistochemistry. RESULTS The mean total C cell number per all endocrine (follicular and C cells) cell number (C cell concentration) was 7.33%. The tendency to increase the C cell number from periphery to the central region of thyroid lobe was observed with the mean C cell concentration of 3.95%, 7.89% and 9.97% in peripheral, intermediate and central areas, respectively. Most frequently, C cells were situated intrafolliculary whereas epifollicular and interfollicular positions were observed less often. C cells were polymorphic with long cytoplasmic processes. The mean C cell area was 61.97 μm2 and the mean C cell perimeter, length and width were: 34.92 μm, 12.85 μm and 4.91 μm, respectively. In the majority of C cells, strong immunohistochemical cytoplasmic reaction was observed with the mean color intensity of 78.32. In autumn-winter period, C cells were significantly larger with lower color intensity than during spring and summer. CONCLUSIONS This study leads to deeper characteristics of thyroid gland C cells in European bison. The histomorphometric data suggest that in European bison production of calcitonin by C cells may differ depending on the time of the year.
Expert consensus for respiratory physiotherapy management of mechanically ventilated adults with community‐acquired pneumonia: A Delphi study

RATIONALE AND AIMS Patients with community-acquired pneumonia (CAP) are frequently admitted to an intensive care unit. Physiotherapy may be provided to optimize respiratory function; however, there is significant variability in clinical practice and limited research directing best practice for this cohort. This study aimed to determine expert consensus for best physiotherapy practice for invasively ventilated adults with CAP. METHOD A modified Delphi technique involved an international expert panel completing three rounds of an online questionnaire. The initial 35-statement questionnaire, based on a systematic literature review and survey of current clinical practice, covered physiotherapy assessment and treatment of intubated patients with CAP. Quantitative data using Likert scales determined level of agreement, with qualitative data collected through open-ended responses. Consensus threshold was set a priori at 70%. Items not achieving consensus were modified and new items added based on themes from qualitative data. Quantitative data were analysed descriptively, with thematic analysis used on qualitative data. RESULTS The panel comprised 29 international clinical and academic experts in critical care physiotherapy. Response rate was more than 95% for each round. Outcome achieved was 38 consensus statements covering assessment and treatment, with 28 statements (74%) providing consensus on recommended clinical practice, two consensus disagreement statements (7%) for what practice is not recommended, and eight statements (21%) indicating which treatments may be beneficial. CONCLUSION Expert consensus regarding physiotherapy for intubated adults with CAP patients provides an evidence-based approach to guide clinical practice. The consensus statements can also be used to guide research evaluating physiotherapy interventions for patients with CAP.
Twelve weeks of low volume sprint interval training improves cardio-metabolic health outcomes in overweight females

ABSTRACT This study compared the effects of 12-week sprint interval training (SIT), high-intensity interval training (HIIT), and moderate-intensity continuous training (MICT) on cardiorespiratory fitness (V̇O2peak), body mass and insulin sensitivity in overweight females. Forty-two overweight women (age 21.2 ± 1.4 years, BMI 26.3 ± 2.5 kg·m−2) were randomized to the groups of SIT (80 × 6-s sprints + 9-s rest), and isoenergetic (300KJ) HIIT (~9 × 4-min cycling at 90% V̇O2peak + 3-min rest) and MICT (cycling at 60% V̇O2peak for ~ 61-min). Training intervention was performed 3 d·week−1 for 12 weeks. After intervention, all three groups induced the same improvement in V̇O2peak (~ +25%, p < 0.001) and a similar reduction in body mass (~ – 5%, p < 0.001). Insulin sensitivity and fasting insulin levels were improved significantly on post-training measures in SIT and HIIT by ~26% and ~39% (p < 0.01), respectively, but remain unchanged in MICT. In contrast, fasting glucose levels were only reduced with MICT (p < 0.01). The three training strategies are equally effective in improving V̇O2peak and reducing body mass, however, the SIT is time-efficient. High-intensity training (i.e. SIT and HIIT) seems to be more beneficial than MICT in improving insulin sensitivity. Abbreviations: BMI: body mass index; CVD: cardiovascular disease; HIEG: hyperinsulinaemic euglycaemic glucose; HIIT: high-intensity interval training; HOMA-IR: homeostasis model assessment of insulin resistance; HR: heart rate; MICT: moderate-intensity continuous training; RPE: ratings of perceived exertion; SIT: sprint interval training; T2D: type 2 diabetes; V̇O2peak: peak oxygen consumption
Identifying mouse developmental essential genes using machine learning

ABSTRACT The genes that are required for organismal survival are annotated as ‘essential genes’. Identifying all the essential genes of an animal species can reveal critical functions that are needed during the development of the organism. To inform studies on mouse development, we developed a supervised machine learning classifier based on phenotype data from mouse knockout experiments. We used this classifier to predict the essentiality of mouse genes lacking experimental data. Validation of our predictions against a blind test set of recent mouse knockout experimental data indicated a high level of accuracy (>80%). We also validated our predictions for other mouse mutagenesis methodologies, demonstrating that the predictions are accurate for lethal phenotypes isolated in random chemical mutagenesis screens and embryonic stem cell screens. The biological functions that are enriched in essential and non-essential genes have been identified, showing that essential genes tend to encode intracellular proteins that interact with nucleic acids. The genome distribution of predicted essential and non-essential genes was analysed, demonstrating that the density of essential genes varies throughout the genome. A comparison with human essential and non-essential genes was performed, revealing conservation between human and mouse gene essentiality status. Our genome-wide predictions of mouse essential genes will be of value for the planning of mouse knockout experiments and phenotyping assays, for understanding the functional processes required during mouse development, and for the prioritisation of disease candidate genes identified in human genome and exome sequence datasets. Summary: Here, we used computer-based machine learning methodology to predict which genes in the mouse genome are essential for development, and present a database of mouse essential and non-essential genes.
Mitochondrial Oxidative Stress and Antioxidants Balance in Fatty Liver Disease

Fatty liver disease is one of the most prevalent forms of chronic liver disease that encompasses both alcoholic liver disease (ALD) and nonalcoholic fatty liver disease (NAFLD). Alcoholic steatohepatitis (ASH) and nonalcoholic steatohepatitis (NASH) are intermediate stages of ALD and NAFLD, which can progress to more advanced forms, including cirrhosis and hepatocellular carcinoma. Oxidative stress and particularly alterations in mitochondrial function are thought to play a significant role in both ASH and NASH and recognized to contribute to the generation of reactive oxygen species (ROS), as documented in experimental models. Despite the evidence of ROS generation, the therapeutic efficacy of treatment with antioxidants in patients with fatty liver disease has yielded poor results. Although oxidative stress is considered to be the disequilibrium between ROS and antioxidants, there is evidence that a subtle balance among antioxidants, particularly in mitochondria, is necessary to avoid the generation of ROS and hence oxidative stress. Conclusion: As mitochondria are a major source of ROS, the present review summarizes the role of mitochondrial oxidative stress in ASH and NASH and presents emerging data indicating the need to preserve mitochondrial antioxidant balance as a potential approach for the treatment of human fatty liver disease, which may pave the way for the design of future trials to test the therapeutic role of antioxidants in fatty liver disease.
The Role of Job Demands–Resources (JDR) between Service Workers’ Emotional Labor and Burnout: New Directions for Labor Policy at Local Government

Recently, research on service workers’ emotional labor has received considerable attention, both in theory and practice. Emotional labor has been reported to cause both stress and burnout in service workers, eventually leading to a decrease in organizational productivity. In this context, there is also a growing interest in identifying ways to reduce such burnout. This study aimed to examine the influence of emotional labor and job demands–resources (JD–R) on service workers’ burnout. Specifically, we analyzed the direct, indirect, and moderating effects of JD–R on burnout. Data were collected from service workers (N = 1517) in public sectors. Results revealed that three dimensions—emotional labor, intensity/variety, and surface acting—increase burnout, whereas deep acting decreases it. Additionally, job demands were found to increase burnout, while job resources decreased it. Among the job demands, customer contact had the greatest positive impact on burnout, followed by role ambiguity and workload, respectively. Among the job resources, self-efficacy and social support had the greatest negative impact on burnout. Finally, customer contact, role ambiguity, job autonomy, and social support were identified as moderators that worsened or buffered the impact of emotional labor on burnout.
Cooling Rates of Hyperthermic Humans Wearing American Football Uniforms When Cold-Water Immersion Is Delayed.

CONTEXT Treatment delays can be contributing factors in the deaths of American football athletes from exertional heat stroke. Ideally, clinicians begin cold-water immersion (CWI) to reduce rectal temperature (Trec) to <38.9°C within 30 minutes of collapse. If delays occur, experts recommend Trec cooling rates that exceed 0.15°C/min. Whether treatment delays affect CWI cooling rates or perceptual variables when football uniforms are worn is unknown. OBJECTIVE To answer 3 questions: (1) Does wearing a football uniform and delaying CWI by 5 minutes or 30 minutes affect Trec cooling rates? (2) Do Trec cooling rates exceed 0.15°C/min when treatment delays have occurred and individuals wear football uniforms during CWI? (3) How do treatment delays affect thermal sensation and Environmental Symptoms Questionnaire responses? DESIGN Crossover study. SETTING Laboratory. PATIENTS OR OTHER PARTICIPANTS Ten physically active men (age = 22 ± 2 y, height = 183.0 ± 6.9 cm, mass = 78.9 ± 6.0 kg). INTERVENTION(S) On 2 days, participants wore American football uniforms and exercised in the heat until Trec was 39.75°C. Then they sat in the heat, with equipment on, for either 5 or 30 minutes before undergoing CWI (10.6°C ± 0.1°C) until Trec reached 37.75°C. MAIN OUTCOME MEASURE(S) Rectal temperature and CWI duration were used to calculate cooling rates. Thermal sensation was measured pre-exercise, postexercise, postdelay, and post-CWI. Responses to the Environmental Symptoms Questionnaire were obtained pre-exercise, postdelay, and post-CWI. RESULTS The Trec cooling rates exceeded recommendations and were unaffected by treatment delays (5-minute delay = 0.20°C/min ± 0.07°C/min, 30-minute delay = 0.19°C/min ± 0.05°C/min; P = .4). Thermal sensation differed between conditions only postdelay (5-minute delay = 6.5 ± 0.6, 30-minute delay = 5.5 ± 0.7; P < .05). Environmental Symptoms Questionnaire responses differed between conditions only postdelay (5-minute delay = 27 ± 15, 30-minute delay = 16 ± 12; P < .05). CONCLUSIONS Treatment delays and football equipment did not impair CWI's effectiveness. Because participants felt cooler and better after the 30-minute delay despite still having elevated Trec, clinicians should use objective measurements (eg, Trec) to guide their decision making for patients with possible exertional heat stroke.
Black Males, Trauma, and Mental Health Service Use: A Systematic Review.

Objective To systematically review the evidence of and synthesize results from relevant studies that have examined barriers and facilitators to professional mental health service use for Black male trauma survivors ages 18 and older. Methods A thorough search of selected databases that included EBSCO, ProQuest, and Web of Science Core Collection and careful consideration of inclusion and exclusion criteria yielded a final six studies for detailed review. Results Black male trauma survivors were significantly less likely to be utilizing mental health services than other sex-ethnic groups. High levels of daily crises, a lack of knowledge of steps to obtain services, and service eligibility issues were significant individual barriers to mental health service use for Black males, whereas social support, occupational disability, and PTSD symptoms severity were significant facilitators for mental health service use. Conclusion Exposure to trauma, whether through witnessing or direct victimization, is often a daily reality for many Black males. Findings from this review suggest that 56-74% of Black males exposed to traumatic events may have an unmet need for mental health services. Future research examining the relationship between trauma and mental health service use for Black men and factors that moderate and/or mediate this relationship is warranted.
Relationship of DNA methylation to mutational changes and transcriptional organization in fusion‐positive and fusion‐negative rhabdomyosarcoma

Our previous study of DNA methylation in the pediatric soft tissue tumor rhabdomyosarcoma (RMS) demonstrated that fusion‐positive (FP) and fusion‐negative (FN) RMS tumors exhibit distinct DNA methylation patterns. To further examine the significance of DNA methylation differences in RMS, we investigated genome‐wide DNA methylation profiles in discovery and validation cohorts. Unsupervised analysis of DNA methylation data identified novel distinct subsets associated with the specific fusion subtype in FP RMS and with RAS mutation status in FN RMS. Furthermore, the methylation pattern in normal muscle is most similar to the FN subset with wild‐type RAS mutation status. Several biologically relevant genes were identified with methylation and expression differences between the two fusion subtypes of FP RMS or between the RAS wild‐type and mutant subsets of FN RMS. Genomic localization studies showed that promoter and intergenic regions were hypomethylated and the 3′ untranslated regions were hypermethylated in FP compared to FN tumors. There was also a significant difference in the distribution of PAX3‐FOXO1 binding sites between genes with and without differential methylation. Moreover, genes with PAX3‐FOXO1 binding sites and promoter hypomethylation exhibited the highest frequency of overexpression in FP tumors. Finally, a comparison of RMS model systems revealed that patient‐derived xenografts most closely recapitulate the DNA methylation patterns found in human RMS tumors compared to cell lines and cell line‐derived xenografts. In conclusion, these findings highlight the interaction of epigenetic changes with mutational alterations and transcriptional organization in RMS tumors, and contribute to improved molecular categorization of these tumors.
Disaggregating Mass Public Shootings: A Comparative Analysis of Disgruntled Employee, School, Ideologically motivated, and Rampage Shooters

This study compares the demographic, background, motivation, and pre‐event and event‐level behaviors across four types of mass public shooters: disgruntled employee, school, ideologically motivated, and rampage offenders. Using a database containing detailed information on 318 mass public shootings that occurred in the United States between 1966 and 2017, we find systematic differences in the characteristics, motivations, target selection, planning, and incident‐level behaviors among these offenders. The results show that ideologically motivated shooters to be the most patient, and methodical, and as a result the most lethal. Conversely, disgruntled employees, who are driven by revenge, tend to have little time to plan and consequently are the least lethal shooters. These, among other differences, underscore the need for prevention strategies and policies to be tailored to specific types of offenders. Furthermore, the results also highlight commonalities across offender type, suggesting that the social and psychological pathways to violence are universal across offenders.