Replicability of Strength Domains in Australian Rules Football Athletes.

Geneau, MC, Carey, DL, Gastin, PB, Robertson, S, and James, LP. Replicability of strength domains in Australian rules football athletes. J Strength Cond Res XX(X): 000-000, 2024-Maximal lower body strength is a multidimensional construct defined as the maximum force application under specific task constraints.

Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings.

Recent studies have revealed a role for zinc in insulin secretion and glucose homeostasis. Randomized placebo-controlled zinc supplementation trials have demonstrated improved glycemic traits in patients with type II diabetes (T2D). Moreover, rare loss-of-function variants in the zinc efflux transporter reduce T2D risk.

Increased frequency of germline pathogenic variants among individuals with dermatofibrosarcoma protuberans.

Purpose: To identify candidate susceptibility genes for dermatofibrosarcoma protuberans (DFSP).

Methods: All individuals with DFSP from the International Sarcoma Kindred Study ( = 3767 individuals with sarcoma diagnoses from Australia, Europe, New Zealand, and United States) and cohorts that were not ascertained based on sarcoma status or other phenotypes (Geisinger MyCode,  = 170,503 individuals, United States; UK Biobank,  = 469,789 individuals, United Kingdom) were evaluated for germline pathogenic or likely pathogenic (P/LP) variants in 156 cancer genes.

Results: There were 92 unrelated individuals with DFSP across the 3 cohorts.

A Genome-Wide Association Study and Rare Variant Analysis for Dupuytren Disease in a North American Population.

Purpose: Although European genome-wide association studies (GWAS) have aided in defining genetic associations in Dupuytren disease (DD), North American populations have been infrequently analyzed. Additionally, there are a paucity of rare variant analyses (RVA) for DD, which can help define both trait variability and risk for low-frequency variants. Our purpose was to perform a GWAS and RVA for DD using a North American database.

Long-term neuroplasticity in language networks after anterior temporal lobe resection.

Objective: Anterior temporal lobe resection (ATLR) is an effective treatment for drug-resistant temporal lobe epilepsy (TLE), although language deficits may occur after both left and right ATLR. Functional reorganization of the language network has been observed in the ipsilateral and contralateral hemispheres within 12 months after ATLR, but little is known of longer-term plasticity effects. Our aim was to examine the plasticity of language functions up to a decade after ATLR, in relation to cognitive profiles.

Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals.

Introduction: Hidradenitis suppurativa (HS) is a prevalent and persistent inflammatory skin disorder, lacking a known cure or effective biomarkers for early diagnosis at present. The genetic determinants of HS have not been fully documented, but it is believed to result from a combination of genetic and environmental factors.

Methods: To identify relevant HS gene variants in sporadic HS patients, this study utilized longitudinal electronic health records (EHRs) and whole-exome sequencing.

Genomic ascertainment of -related cancer predisposition.

Purpose: There is clear evidence that deleterious germline variants in increases risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers. Genomic ascertainment was used to quantify cancer risk in germline pathogenic variant heterozygotes.

Patients And Methods: Germline variants were extracted from two exome-sequenced biobanks linked to the electronic health record: UK Biobank (n= 469,765) and Geisinger MyCode (n=170,503).

Molecular basis of TMED9 oligomerization and entrapment of misfolded protein cargo in the early secretory pathway.

Intracellular accumulation of misfolded proteins causes serious human proteinopathies. The transmembrane emp24 domain 9 (TMED9) cargo receptor promotes a general mechanism of cytotoxicity by entrapping misfolded protein cargos in the early secretory pathway. However, the molecular basis for this TMED9-mediated cargo retention remains elusive.

A genome-first approach to characterize DICER1 pathogenic variant prevalence, penetrance and cancer, thyroid, and other phenotypes in 2 population-scale cohorts.

Purpose: Population-scale, exome-sequenced cohorts with linked electronic health records (EHR) permit genome-first exploration of phenotype. Phenotype and cancer risk are well-characterized in children with a pathogenic (HGNC ID:17098) variant. Here, the prevalence, penetrance and phenotype of pathogenic germline variants in adults was investigated in two population-scale cohorts.

Hospital charges for laparoscopic sleeve gastrectomy compared to robotic sleeve gastrectomy: a multicenter study.

Background: Sleeve gastrectomy has become a gold standard in addressing medically refractory obesity. Robotic platforms are becoming more utilized, however, data on its cost-effectiveness compared to laparoscopy remain controversial (1-3). At NYU Langone Health, many of the bariatric surgeons adopted robotic surgery as part of their practices starting in 2021.

A framework for test measurement selection in athlete physical preparation.

Preparing athletes for competition requires the diagnosis and monitoring of relevant physical qualities (e.g., strength, power, speed, endurance characteristics).

Classification of Force-Time Metrics Into Lower-Body Strength Domains.

Geneau, MC, Carey, DL, Gastin, PB, Robertson, S, and James, LP. Classification of force-time metrics into lower-body strength domains. J Strength Cond Res 38(9): 1561-1567, 2024-The purpose of this study was to classify force-time metrics into distinct lower-body strength domains using a systematic data reduction analysis.

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.

We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) and γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals with liver function tests and a validation cohort of 21,689 cases and 617,729 controls, we identify and validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism.

Rare GPR37L1 Variants Reveal Potential Association between GPR37L1 and Disorders of Anxiety and Migraine.

GPR37L1 is an orphan receptor that couples through heterotrimeric G-proteins to regulate physiological functions. Since its role in humans is not fully defined, we used an unbiased computational approach to assess the clinical significance of rare () genetic variants found among 51,289 whole-exome sequences from the DiscovEHR cohort. Rare coding variants were binned according to predicted pathogenicity and analyzed by sequence kernel association testing to reveal significant associations with disease diagnostic codes for epilepsy and migraine, among others.

3D Topographical Scanning for the Detection of Osteoporosis.

Objectives: Osteoporosis is associated with greater risk of fracture, which can lead to increased morbidity and mortality. DEXA scans are often inaccessible for patients, leaving many cases of osteoporosis undetected. A portable 3D topographical scan offers an easily accessible and inexpensive potential adjunct screening tool.

Hemispheric asymmetry of hand and tool perception in left- and right-handers with known language dominance.

Regions in the brain that are selective for images of hands and tools have been suggested to be lateralised to the left hemisphere of right-handed individuals. In left-handers, many functions related to tool use or tool pantomime may also depend more on the left hemisphere. This result seems surprising, given that the dominant hand of these individuals is controlled by the right hemisphere.

Applying a genetic risk score model to enhance prediction of future multiple sclerosis diagnosis at first presentation with optic neuritis.

Optic neuritis (ON) is associated with numerous immune-mediated inflammatory diseases, but 50% patients are ultimately diagnosed with multiple sclerosis (MS). Differentiating MS-ON from non-MS-ON acutely is challenging but important; non-MS ON often requires urgent immunosuppression to preserve vision. Using data from the United Kingdom Biobank we showed that combining an MS-genetic risk score (GRS) with demographic risk factors (age, sex) significantly improved MS prediction in undifferentiated ON; one standard deviation of MS-GRS increased the Hazard of MS 1.