Biological Maturity Status, Anthropometric Percentiles, and Core Flexion to Extension Strength Ratio as Possible Traumatic and Overuse Injury Risk Factors in Youth Alpine Ski Racers: A Four-Year Prospective Study

The aim of the present study was to investigate prospectively the role of biological maturity status, anthropometric percentiles, and core flexion to extension strength ratios in the context of traumatic and overuse injury risk identification in youth ski racing. In this study, 72 elite youth ski racers (45 males, 27 females) were prospectively observed from the age of 10 to 14 years. Anthropometric parameters, biological maturity status, and core flexion to extension strength ratios were assessed twice per year. Type and severity of traumatic and overuse injuries were prospectively recorded during the 4 years. Generalized estimating equations were used to model the binary outcome (0: no injury; 1: ≥1 injury). Factors tested on association with injury risk were sex, relative age quarter, age, maturity group, puberty status, core flexion to extension strength ratio, height percentile group, and weight percentile group. In total, 104 traumatic injuries and 39 overuse injuries were recorded. Age (odds ratio (OR) = 3.36) and weight percentile group (OR = 0.38) were significant risk factors for traumatic injuries (tendency: pubertal status). No significant risk factor for overuse injuries was identified (tendency: maturity group, puberty status, height percentile group). Future studies should focus on identifying risk factors for overuse injuries; growth rates might be of importance

Disruption on the Way? The Role of Mobile Applications for Electric Vehicle Diffusion

Disruptive eco-innovations that replace existing unsustainable modes of transportation could contribute to achieve substantial improvements in environmental sustainability. Electric vehicles (EVs) have the potential to provide a more sustainable means of individual mobility, but, thus far, customer adoption remains relatively low. Following disruptive innovations theory developed by Christensen, the disruptive potential of EVs can be realized if their performance on traditional attributes that customer\u27s value improves. Here, information systems can play a key role. In this paper, we use a large scale (n = 1461) empirical investigation to examine which attributes must be addressed and assess the ability of existing mobile applications (apps) to do so. Our results indicate that apps contribute to a more reliable and convenient EV-user experience. We shed light on the role of apps in connecting the vehicle, the infrastructure and the user and in creating a digital eco-system that enhances the diffusion of EVs

PLoS ONE / Influential factors on the relative age effect in alpine ski racing

The relative age effect (RAE), which refers to an over-representation of selected athletes born early in the selection year, was proven to be present in alpine ski racing in all age categories at both national and international levels. However, the influential factors on, or the causal mechanisms of, the RAE are still unknown. Therefore, the aim of the present study was to examine three possible influential factors on the relative age effect in alpine skiing: physical performance, anthropometric characteristics and biological maturational status. The study included the investigation of 282 elite Austrian youth ski racers and 413 non-athletes (comparison group) of the same age (1013 years) and region. Six physical performance tests were performed, body mass and height were assessed, and the age at peak height velocity (APHV) was calculated. A significant RAE was present in the ski racers. No differences were shown in the physical performance characteristics or in the calculated APHV between the relative age quarters. These results suggest that ski racers born in the last quarter can counteract the relative age disadvantages if they already present the same level of physical performance and maturational status as those born at the beginning of the year. The height and weight of ski racers born at the beginning of the year were significantly higher compared to the non-athletes, and ski racers born in relative age quarter 1 were taller and heavier compared to the ski racers of the other quarters. This indicates that the anthropometric characteristics influence the selection process in alpine ski racing, and that relatively older athletes are more likely to be selected if they exhibit advanced anthropometric characteristics.(VLID)191309

An Overview of Recent Application of Medical Infrared Thermography in Sports Medicine in Austria

Medical infrared thermography (MIT) is used for analyzing physiological functions related to skin temperature. Technological advances have made MIT a reliable medical measurement tool. This paper provides an overview of MIT’s technical requirements and usefulness in sports medicine, with a special focus on overuse and traumatic knee injuries. Case studies are used to illustrate the clinical applicability and limitations of MIT. It is concluded that MIT is a non-invasive, non-radiating, low cost detection tool which should be applied for pre-scanning athletes in sports medicine

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

Background The majority of cases with severe pulmonary alveolar proteinosis (PAP) are caused by auto-antibodies against GM-CSF. A multitude of genetic and exogenous causes are responsible for few other cases. Goal of this study was to determine the prevalence of GATA2 deficiency in children and adults with PAP and hematologic disorders. Methods Of 21 patients with GM-CSF-autoantibody negative PAP, 13 had no other organ involvement and 8 had some form of hematologic disorder. The latter were sequenced for GATA2. Results Age at start of PAP ranged from 0.3 to 64 years, 4 patients were children. In half of the subjects GATA2-sequence variations were found, two of which were considered disease causing. Those two patients had the typical phenotype of GATA2 deficiency, one of whom additionally showed a previously undescribed feature – a cholesterol pneumonia. Hematologic disorders included chronic myeloic leukemia, juvenile myelo-monocytic leukemia, lymphoblastic leukemia, sideroblastic anemia and two cases of myelodysplastic syndrome (MDS). A 4 year old child with MDS and DiGeorge Syndrome Type 2 was rescued with repetitive whole lung lavages and her PAP was cured with heterologous stem cell transplant. Conclusions In children and adults with severe GM-CSF negative PAP a close cooperation between pneumologists and hemato-oncologists is needed to diagnose the underlying diseases, some of which are caused by mutations of transcription factor GATA2. Treatment with whole lung lavages as well as stem cell transplant may be successful

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome

Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of ESRD in the first two decades of life. Effective treatment is lacking. First insights into disease mechanisms came from identification of single-gene causes of SRNS. However, the frequency of single-gene causation and its age distribution in large cohorts are unknown. We performed exon sequencing of NPHS2 and WT1 for 1783 unrelated, international families with SRNS. We then examined all patients by microfluidic multiplex PCR and next-generation sequencing for all 27 genes known to cause SRNS if mutated. We detected a single-gene cause in 29.5% (526 of 1783) of families with SRNS that manifested before 25 years of age. The fraction of families in whom a single-gene cause was identified inversely correlated with age of onset. Within clinically relevant age groups, the fraction of families with detection of the single-gene cause was as follows: onset in the first 3 months of life (69.4%), between 4 and 12 months old (49.7%), between 1 and 6 years old (25.3%), between 7 and 12 years old (17.8%), and between 13 and 18 years old (10.8%). For PLCE1, specific mutations correlated with age of onset. Notably, 1% of individuals carried mutations in genes that function within the coenzyme Q10 biosynthesis pathway, suggesting that SRNS may be treatable in these individuals. Our study results should facilitate molecular genetic diagnostics of SRNS, etiologic classification for therapeutic studies, generation of genotype-phenotype correlations, and the identification of individuals in whom a targeted treatment for SRNS may be available

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency

Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. All mutations resulted in reduced or absent SGPL1 protein and/or enzyme activity. Overexpression of cDNA representing SGPL1 mutations resulted in subcellular mislocalization of SGPL1. Furthermore, expression of WT human SGPL1 rescued growth of SGPL1-deficient dpl1. yeast strains, whereas expression of disease-associated variants did not. Immunofluorescence revealed SGPL1 expression in mouse podocytes and mesangial cells. Knockdown of Sgpl1 in rat mesangial cells inhibited cell migration, which was partially rescued by VPC23109, an S1P receptor antagonist. In Drosophila, Sply mutants, which lack SGPL1, displayed a phenotype reminiscent of nephrotic syndrome in nephrocytes. WT Sply, but not the disease-associated variants, rescued this phenotype. Together, these results indicate that SGPL1 mutations cause a syndromic form of SRNS

Mutations in KEOPS-Complex Genes Cause Nephrotic Syndrome with Primary Microcephaly

Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue. Furthermore, knockdown of these genes impaired protein translation, caused endoplasmic reticulum stress, activated DNA-damage-response signaling, and ultimately induced apoptosis. Knockdown of OSGEP or TP53RK induced defects in the actin cytoskeleton and decreased the migration rate of human podocytes, an established intermediate phenotype of SRNS. We thus identified four new monogenic causes of GAMOS, describe a link between KEOPS function and human disease, and delineate potential pathogenic mechanisms