Clinical and molecular characterization of patients with YWHAG‐related epilepsy

Objective YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures, developmental delay/intellectual disability, and facial dysmorphisms. Through description of a large cohort, which doubles the number of reported patients, we further delineate the spectrum of YWHAG-related epilepsy. Methods We included in this study 24 patients, 21 new and three previously described, with pathogenic/likely pathogenic variants in YWHAG. We extended the analysis of clinical, electroencephalographic, brain magnetic resonance imaging, and molecular genetic information to 24 previously published patients. Results The phenotypic spectrum of YWHAG-related disorders ranges from mild developmental delay to developmental and epileptic encephalopathy (DEE). Epilepsy onset is in the first 2 years of life. Seizure freedom can be achieved in half of the patients (13/24, 54%). Intellectual disability (23/24, 96%), behavioral disorders (18/24, 75%), neurological signs (13/24, 54%), and dysmorphisms (6/24, 25%) are common. A genotype–phenotype correlation emerged, as DEE is more represented in patients with missense variants located in the ligand-binding domain than in those with truncating or missense variants in other domains (90% vs. 19%, p < .001). Significance This study suggests that pathogenic YWHAG variants cause a wide range of clinical presentations with variable severity, ranging from mild developmental delay to DEE. In this allelic series, a genotype–phenotype correlation begins to emerge, potentially providing prognostic information for clinical management and genetic counseling

Eight Decades of Hatchery Salmon Releases in the California Central Valley: Factors Influencing Straying and Resilience

The California Central Valley contains the southernmost native populations of Chinook Salmon Oncorhynchus tshawytscha, which inhabit a highly variable, anthropogenically altered environment. To mitigate habitat loss and support fisheries, millions of fall‐run hatchery salmon are released each year, often transported downstream to avoid in‐river mortality, with consequences not fully understood. We synthesize historical trends in release location and timing (1941–2017), focusing on outcomes influencing stock resilience, adult straying, and ocean arrival timing. Over time, juveniles have been transported increasing distances from the source hatchery, particularly during droughts. Transport distance was strongly associated with straying rate (averaging 0–9% vs. 7–89% for salmon released on site vs. in the bay upstream of Golden Gate Bridge, respectively), increasing the effects of hatchery releases on natural spawners. Decreasing variation in release location and timing could reduce spatiotemporal buffering, narrowing ocean arrival timings and increasing risk of mismatch with peak prey production. Central Valley salmon epitomize the pervasive challenge of balancing short‐term (e.g., abundance) against long‐term (e.g., stability) goals

Influence of sequence of stress on fatigue damage

Rome, Ital

Determinazione dello stato di sforzo presente nelle ali delle travi ad I di gru a ponte monorotaia

Lucca L

Experimental and numerical Analysis of the Body of a Refuse Collecting Vehicle

Object of the present work is the body of a vehicle for the refuse collection. The main part of the body and the hatchback door have been studied, both experimentally, by means of strain gauges measurements and numerically, by means of finite element models. The aim of the study was to determine the pressure profile generated by refuse of different kind on the body walls during the typical operating conditions of the vehicle and to analyse the correspondent stress and strain distribution. The strain gauges measurements were carried out in different days on the vehicle operating ‘in the field’, during the collection of solid urban refuse, paper and plastics. Eighty grids were applied to the vehicle body for this aim and the measurements were taken during the charging of the refuse from the boxes and during the subsequent tamping and discharging phases. A numerical model of the body was also developed, and an unit pressure was applied on different zones of it, calculating the correspondent strains in the strain gauges locations and determining in this way the influence coefficients. The pressure distribution was then evaluated by minimizing the differences between the so calculated strains and those experimentally measured: it shows different profiles, depending on the refuse type. Finally, the global stress and strain state of the body was numerically determined applying the pressure profiles found as above: the highest stresses were found in the back-lower part of the body and in particular in the hatchback door

Racing kart handling behaviour: an analytical and experimental study

none4M. Gobbi; S. Matteazzi; L. Solazzi; L. TabaglioGobbi, Massimiliano; S., Matteazzi; L., Solazzi; L., Tabagli

Racing kart handling behaviour an analytical and experimental study

Milan