Identification of Genomic Predictors of Muscle Fiber Size.

The greater muscle fiber cross-sectional area (CSA) is associated with greater skeletal muscle mass and strength, whereas muscle fiber atrophy is considered a major feature of sarcopenia. Muscle fiber size is a polygenic trait influenced by both environmental and genetic factors. However, the genetic variants underlying inter-individual differences in muscle fiber size remain largely unknown. The aim of our study was to determine whether 1535 genetic variants previously identified in a genome-wide association study of appendicular lean mass are associated with the CSA of fast-twitch muscle fibers (which better predict muscle strength) in the m. vastus lateralis of 148 physically active individuals (19 power-trained and 28 endurance-trained females, age 28.0 ± 1.1; 28 power-trained and 73 endurance-trained males, age 31.1 ± 0.8). Fifty-seven single-nucleotide polymorphisms (SNPs) were identified as having an association with muscle fiber size (p < 0.05). Of these 57 SNPs, 31 variants were also associated with handgrip strength in the UK Biobank cohort (n = 359,729). Furthermore, using East Asian and East European athletic (n = 731) and non-athletic (n = 515) cohorts, we identified 16 SNPs associated with athlete statuses (sprinter, wrestler, strength, and speed-strength athlete) and weightlifting performance. All SNPs had the same direction of association, i.e., the lean mass-increasing allele was positively associated with the CSA of muscle fibers, handgrip strength, weightlifting performance, and power athlete status. In conclusion, we identified 57 genetic variants associated with both appendicular lean mass and fast-twitch muscle fiber size of m. vastus lateralis that may, in part, contribute to a greater predisposition to power sports.

Reversible focal intracranial hypertension swine model with continuous multimodal neuromonitoring.

BACKGROUND: Intracranial hypertension (HI) is associated with worse neurological outcomes and higher mortality. Although there are several experimental models of HI, in this article we present a reproducible, reversible, and reliable model of intracranial hypertension, with continuous multimodal monitoring. NEW METHOD: A reversible intracranial hypertension model in swine with multimodal monitoring including intracranial pressure, arterial blood pressure, heart rate variation, brain tissue oxygenation, and electroencephalogram is developed to understand the relationship of ICP and EEG. By inflating and deflating a balloon, located 20 mm anterior to the coronal suture and a 15 mm sagittal suture, we generate intracranial hypertension events and simultaneously measure intracranial pressure and oxygenation in the contralateral hemisphere and the EEG, simulating the usual configuration in humans. RESULTS: We completed 5 experiments and in all of them, we were able to complete at least 6 events of intracranial hypertension in a stable and safe way. For events of 20-40 mmHg of ICP we need an median (IQR) of 4.2 (3.64) ml of saline solution into the Foley balloon, a median (IQR) infusion time of 226 (185) second in each event and for events of 40-50 mmHg of ICP we need a median (IQR) of 5.1 (4.66) ml of saline solution, a median (IQR) infusion time of 280 (48) seconds and a median (IQR). The median (IQR) maintenance time was 352 (77) seconds and 392 (166) seconds for 20-40 mmHg and 40-50 mmHg of ICP, respectively. COMPARISON WITH EXISTING METHOD(S): Existing methods do not include EEG measures and do not present the reversibility of intracranial hypertension. CONCLUSIONS: Our model is fully reproducible, it is capable of generating reversible focal intracranial hypertension through strict control of the injected volume, it is possible to generate different infusion rates of the volume in the balloon, in order to generate different scenarios, the data obtained are sufficient to determine the brain complacency in real time. and useful for understanding the pathophysiology of ICP and the relationship between ICP (CPP) and EEG.

Heart rate variability follow-up during COVID-19 -a case report.

BACKGROUND: To detect an early increase in the inflammatory response might prove to be vital for mitigating the deleterious effects of the disease over time. CASES: A 52-year-old obese man with moderate asthma and hypertension, who developed COVID-19 and had moderate symptoms, used a wearable device to record heart rate variability (HRV) during his illness. He had low parasympathetic tone, which decreased daily until it reached almost 2 standard deviations (SD) below normal values at the end of the second week. His sympathetic tone increased from > 3 SD to > 5 SD. CONCLUSIONS: Conclusions: These findings suggest an altered modulation of the sympathetic and parasympathetic nervous systems in COVID-19, such that the sympathetic tone is augmented and the parasympathetic tone is reduced. Population norms of COVID-19 infections should be further studied over the short-term and using 24 h HRV measurements.

Transport genes of Chromobacterium violaceum: an overview.

The complete genome sequence of the free-living bacterium Chromobacterium violaceum has been determined by a consortium of laboratories in Brazil. Almost 500 open reading frames (ORFs) coding for transport-related membrane proteins were identified in C. violaceum, which represents 11% of all genes found. The main class of transporter proteins is the primary active transporters (212 ORFs), followed by electrochemical potential-driven transporters (154 ORFs) and channels/pores (62 ORFs). Other classes (61 ORFs) include group translocators, transport electron carriers, accessory factors, and incompletely characterized systems. Therefore, all major categories of transport-related membrane proteins currently recognized in the Transport Protein Database (http://tcdb.ucsd.edu/tcdb) are present in C. violaceum. The complex apparatus of transporters of C. violaceum is certainly an important factor that makes this bacterium a dominant microorganism in a variety of ecosystems in tropical and subtropical regions. From a biotechnological point of view, the most important finding is the transporters of heavy metals, which could lead to the exploitation of C. violaceum for bioremediation.

The generation and utilization of a cancer-oriented representation of the human transcriptome by using expressed sequence tags.

Whereas genome sequencing defines the genetic potential of an organism, transcript sequencing defines the utilization of this potential and links the genome with most areas of biology. To exploit the information within the human genome in the fight against cancer, we have deposited some two million expressed sequence tags (ESTs) from human tumors and their corresponding normal tissues in the public databases. The data currently define approximately 23,500 genes, of which only approximately 1,250 are still represented only by ESTs. Examination of the EST coverage of known cancer-related (CR) genes reveals that <1% do not have corresponding ESTs, indicating that the representation of genes associated with commonly studied tumors is high. The careful recording of the origin of all ESTs we have produced has enabled detailed definition of where the genes they represent are expressed in the human body. More than 100,000 ESTs are available for seven tissues, indicating a surprising variability of gene usage that has led to the discovery of a significant number of genes with restricted expression, and that may thus be therapeutically useful. The ESTs also reveal novel nonsynonymous germline variants (although the one-pass nature of the data necessitates careful validation) and many alternatively spliced transcripts. Although widely exploited by the scientific community, vindicating our totally open source policy, the EST data generated still provide extensive information that remains to be systematically explored, and that may further facilitate progress toward both the understanding and treatment of human cancers.