21 research outputs found

    Stress Hormone and Heart Rate Responses to Various Exercise Training Methods

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    Background: Blood Flow Resistance (BFR) training has garnered attention for its ability to induce positive physiological adaptations with low-load resistance exercise. The present study aimed to examine the responses of catabolic hormones and heart rates (HR) to various BFR training protocols. This investigation seeks to provide insights into the stress levels induced by different protocols and identification behind the most effective protocol for optimal positive exercise-related adaptations. Methods: Study population involved 10 healthy adult males (height: 175.0±5.0 cm, weight: 96.67±26.6 kg, age: 21.3±2.67 yr.) in a five-session investigation. Informed consent paperwork, pre-testing and anthropometric measurements served as session 1; sessions 2-5 focused on 4 different protocol-specific trainings, using a randomized within-subjects design to assess Cortisol and HR responses. The training protocols included: 20% 1-RM with BFR+rest pause (RP), 20% 1-RM with BFR+drop set (DS), 70-80% 1-RM (HI) without BFR, and 20% 1-RM without BFR with matched RP volumes (CON). Prior to RP and DS sessions, BFR pneumatic cuffs were placed around the upper third of the quadriceps bilaterally and inflated to a pressure that allows for skin to regain its color within 1-2 sec. after pressure has been applied with the thumb. Training sessions encompassed two-circuits (each with leg press and leg extension exercises) that were separated by 5 minutes of passive rest. Each exercise was performed until the participant could no longer perform the action with proper form (volitional fatigue) or until the set number of reps and sets of leg press and leg extension exercises were completed. Salivary samples that were collected pre- and post-training using passive drool saliva collection method were labeled and stored immediately by qualified study personnel at 4-8°C refrigeration. Results: Statistical analyses revealed significant time main effects for RP (p Conclusion: Identifying the optimal exercise protocol for maximizing sporadic exercise session benefits is crucial, given time constraints as a significant factor contributing to physical inactivity. Notable increases in Cortisol from the RP protocol may indicate the level of muscle damage, as GH and Cortisol concentrations are linked to heightened exercise intensities. The findings suggest that the RP protocol with BFR could generate similar or greater intensities (supported by significantly higher HR) and favorable adaptations compared to HI protocols, all while using lighter loads. However, caution is advised against engaging in this protocol more than once a week, as excessive Cortisol elevation is associated with overtraining, potentially leading to increased skeletal muscle breakdown and impaired recovery. This study, alongside similar research, underscores the diverse potential of BFR training within various fitness domains

    Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

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    We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic MBD4 variants within four families and these individuals had a personal and/or family history of adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. MBD4 encodes a glycosylase involved in repair of G:T mismatches resulting from deamination of 5′-methylcytosine. The colorectal adenomas from MBD4-deficient individuals showed a mutator phenotype attributable to mutational signature SBS1, consistent with the function of MBD4. MBD4-deficient polyps harbored somatic mutations in similar driver genes to sporadic colorectal tumors, although AMER1 mutations were more common and KRAS mutations less frequent. Our findings expand the role of BER deficiencies in tumor predisposition. Inclusion of MBD4 in genetic testing for polyposis and multi-tumor phenotypes is warranted to improve disease management

    Amyotrophic lateral sclerosis and frontotemporal dementia: distinct and overlapping changes in eating behaviour and metabolism.

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    Metabolic changes incorporating fluctuations in weight, insulin resistance, and cholesterol concentrations have been identified in several neurodegenerative disorders. Whether these changes result from the neurodegenerative process affecting brain regions necessary for metabolic regulation or whether they drive the degenerative process is unknown. Emerging evidence from epidemiological, clinical, pathological, and experimental studies emphasises a range of changes in eating behaviours and metabolism in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). In ALS, metabolic changes have been linked to disease progression and prognosis. Furthermore, changes in eating behaviour that affect metabolism have been incorporated into the diagnostic criteria for FTD, which has some clinical and pathological overlap with ALS. Whether the distinct and shared metabolic and eating changes represent a component of the proposed spectrum of the two diseases is an intriguing possibility. Moreover, future research should aim to unravel the complex connections between eating, metabolism, and neurodegeneration in ALS and FTD, and aim to understand the potential for targeting modifiable risk factors in disease development and progression.This work was supported by funding to Forefront, a collaborative research group dedicated to the study of frontotemporal dementia and motor neurone disease, from the National Health and Medical Research Council of Australia (NHMRC) program grant (#1037746 to GH, MK and JH) and the Australian Research Council Centre of Excellence in Cognition and its Disorders Memory Node (#CE110001021 to OP and JH) and other grants/sources (NHMRC project grant #1003139). We are grateful to the research participants involved with the ForeFront research studies. RA is a Royal Australasian College of Physicians PhD scholar and MND Australia PhD scholar. MI is an ARC Discovery Early Career Researcher Award Fellow (#DE130100463). OP is an NHMRC Career Development Research Fellow (#1022684). GH is a NHMRC Senior Principal Research Fellow (#1079679). L.M.I. is a NHMRC Senior Research Fellow (#1003083).This is the author accepted manuscript. The final version is available from Elsevier at http://dx.doi.org/10.1016/S1474-4422(15)00380-4

    Germline MBD4-deficiency causes a multi-tumor predisposition syndrome

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    We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic MBD4 variants within four families and these individuals had a personal and/or family history of adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. MBD4 encodes a glycosylase involved in repair of G:T mismatches resulting from deamination of 5′-methylcytosine. The colorectal adenomas from MBD4-deficient individuals showed a mutator phenotype attributable to mutational signature SBS1, consistent with the function of MBD4. MBD4-deficient polyps harbored somatic mutations in similar driver genes to sporadic colorectal tumors, although AMER1 mutations were more common and KRAS mutations less frequent. Our findings expand the role of BER deficiencies in tumor predisposition. Inclusion of MBD4 in genetic testing for polyposis and multi-tumor phenotypes is warranted to improve disease management

    GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

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    The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.</p

    Expanding the diversity of mycobacteriophages: insights into genome architecture and evolution.

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    Mycobacteriophages are viruses that infect mycobacterial hosts such as Mycobacterium smegmatis and Mycobacterium tuberculosis. All mycobacteriophages characterized to date are dsDNA tailed phages, and have either siphoviral or myoviral morphotypes. However, their genetic diversity is considerable, and although sixty-two genomes have been sequenced and comparatively analyzed, these likely represent only a small portion of the diversity of the mycobacteriophage population at large. Here we report the isolation, sequencing and comparative genomic analysis of 18 new mycobacteriophages isolated from geographically distinct locations within the United States. Although no clear correlation between location and genome type can be discerned, these genomes expand our knowledge of mycobacteriophage diversity and enhance our understanding of the roles of mobile elements in viral evolution. Expansion of the number of mycobacteriophages grouped within Cluster A provides insights into the basis of immune specificity in these temperate phages, and we also describe a novel example of apparent immunity theft. The isolation and genomic analysis of bacteriophages by freshman college students provides an example of an authentic research experience for novice scientists

    Marketing strategies of general insurance companies

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    The insurance industry has grown tremendously over the years and competition among the companies has also intensified. The purpose of this project is to gain an insight into the general insurance industry, to obtain an understanding of the marketing strategies adopted by the companies, and make a comparison between the marketing strategies adopted by both local and foreign general insurance companies.BUSINES

    Expanding the Diversity of Mycobacteriophages: Insights into Genome Architecture and Evolution

    No full text
    Mycobacteriophages are viruses that infect mycobacterial hosts such as Mycobacterium smegmatis and Mycobacterium tuberculosis. All mycobacteriophages characterized to date are dsDNA tailed phages, and have either siphoviral or myoviral morphotypes. However, their genetic diversity is considerable, and although sixty-two genomes have been sequenced and comparatively analyzed, these likely represent only a small portion of the diversity of the mycobacteriophage population at large. Here we report the isolation, sequencing and comparative genomic analysis of 18 new mycobacteriophages isolated from geographically distinct locations within the United States. Although no clear correlation between location and genome type can be discerned, these genomes expand our knowledge of mycobacteriophage diversity and enhance our understanding of the roles of mobile elements in viral evolution. Expansion of the number of mycobacteriophages grouped within Cluster A provides insights into the basis of immune specificity in these temperate phages, and we also describe a novel example of apparent immunity theft. The isolation and genomic analysis of bacteriophages by freshman college students provides an example of an authentic research experience for novice scientists
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