Agreement and Sensitivity of the Acceleration-Velocity Profile Derived via Local Positioning System.

Sprint performance is commonly assessed via discrete sprint tests and analyzed through kinematic estimates modeled using a mono-exponential equation, including estimated maximal sprinting speed (MSS), relative acceleration (TAU), maximum acceleration (MAC), and relative propulsive maximal power (PMAX). The acceleration-velocity profile (AVP) provides a simple summary of short sprint performance using two parameters: MSS and MAC, which are useful for simplifying descriptions of sprint performance, comparison between athletes and groups of athletes, and estimating changes in performance over time or due to training intervention. However, discrete testing poses logistical challenges and defines an athlete's AVP exclusively from the performance achieved in an isolated testing environment.

Differences in anthropometric and vertical jump force-time characteristics between U16 and U18 female basketball players.

Considering the importance of body composition and lower-body strength and power for basketball players' on-court performance, as well as a lack of sports science research focused on female athletes, the purpose of the present investigation was to record the anthropometric and countermovement vertical jump (CMJ) characteristics of top-tier U16 and U18 female basketball players and examine between-group differences in the aforementioned tests. Thirty-two athletes who were a part of the national basketball academy volunteered to participate in the present investigation. Following the body composition assessment conducted via a segmental multifrequency bioimpedance analyzer, athletes performed three CMJs while standing on a force plate system sampling at 1000 Hz.

Pathology skills lab: use of macroscopic tumor models in pathology teaching.

Background: The shortage of pathologists in Germany, coupled with an aging workforce, requires innovative approaches to attract medical students to the field. Medical education must address different learning styles to ensure that all students are successful.

Methods: The pilot project "Practical Pathology" aims to enhance students' understanding of pathology by providing hands-on experience in macroscopic gross analysis through the use of tumor dummies built from scratch.

Effects of the Flying Start on Estimated Short Sprint Profiles Using Timing Gates.

Short sprints are predominantly assessed using timing gates and analyzed through parameters of the mono-exponential equation, including estimated maximal sprinting speed (MSS) and relative acceleration (TAU), derived maximum acceleration (MAC), and relative propulsive maximal power (PMAX), further referred to as the No Correction model. However, the frequently recommended flying start technique introduces a bias during parameter estimation. To correct this, two additional models (Estimated TC and Estimated FD) were proposed.

Amplification Is Frequent in Solid Tumors and Predicts Enfortumab Vedotin Response in Metastatic Urothelial Cancer.

Purpose: The anti-NECTIN4 antibody-drug conjugate enfortumab vedotin (EV) is approved for patients with metastatic urothelial cancer (mUC). However, durable benefit is only achieved in a small, yet uncharacterized patient subset. is located on chromosome 1q23.

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

Purpose: We aimed to elucidate the underlying disease in a Hungarian family, with only one affected family member, a 16-year-old male Hungarian patient, who developed global developmental delay, cognitive impairment, behavioral problems, short stature, intermittent headaches, recurrent dizziness, strabismus, hypermetropia, complex movement disorder and partial pituitary dysfunction. After years of detailed clinical investigations and careful pediatric care, the exact diagnosis of the patient and the cause of the disease was still unknown.

Methods: We aimed to perform whole exome sequencing (WES) in order to investigate whether the affected patient is suffering from a rare monogenic disease.

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation.

We present here the case histories of two siblings, a boy and a girl, with Leber's congenital amaurosis (LCA). The diagnosis was based on non-recordable full-field electroretinogram (ffERG). The long-term ophthalmologic follow-up included kinetic perimetry (Goldmann), visual evoked potentials with flash stimulation, optical coherence tomography (OCT: B-scan images at the area of fovea), and multifocal ERG.

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the Gene in BCNS.

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 () gene and the suppressor of the fused homolog () gene. In a few cases, variants of patched 2 () have been found in patients who met the criteria for BCNS.

Inflammatory fibroid polyp of the renal pelvis: first report at an extra-gastrointestinal site with molecular confirmation.

Inflammatory fibroid polyps (IFP) are rare and benign mesenchymal tumours of the gastrointestinal tract. They are submucosal spindle cell lesions with an eosinophilic-rich inflammatory infiltrate and mutations in the platelet-derived growth factor receptor alpha (PDGFRA) gene. In this report, we present the case of a 74-year-old female with a solid tumour of the kidney, which presented as a bland proliferation of spindle cells with thin-walled blood vessels and an inflammatory infiltrate with eosinophilic granulocytes.

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.

Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital nonsyndromic hearing loss (NSHL) cases are caused by hereditary factors. Previously, the majority of NSHL studies focused on the gene; however, with the availability of next-generation sequencing (NGS) methods, the number of novel variants associated with NSHL has increased.

Comparison of Metabolic Characteristics of Physically Active Individuals with Different Training Habits during Incremental Treadmill Test.

The number of people engaging in self-conducted regular physical activity is increasing, but the effects of home fitness and individually planned workouts on health and metabolism are unknown. We aimed to examine the effects of regular training conducted without the supervision of professionals on exercise metabolism in our cross-sectional observational study. Forty-five physically active volunteers, classified into three groups, based on the type and frequency of their training (group 1 frequent long-term endurance, group 2 three times per week aerobic training, and group 3 two times per week short aerobic and resistance training), fulfilled a vita maxima incremental treadmill test.

Spontaneous reshaping of vertebral fractures in an adolescent with osteogenesis imperfecta.

Background: Vertebral compression fractures (VFs) are a common and severe finding in patients with osteoporosis. In children, VFs have the unique potential to reshape and regain their original configuration. Spontaneous vertebral body reshaping (, medication-unassisted) has been reported in secondary osteoporosis.

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

-related disorders (also known as White-Sutton syndrome) encompass a wide range of neurocognitive abnormalities and other accompanying anomalies. Disease severity varies widely among patients and studies investigating genotype-phenotype association are scarce. Therefore, our aim was to collect data on previously unreported patients and perform a large-scale phenotype-genotype comparison from published data.

Genotype-Phenotype Associations in Patients With Type-1, Type-2, and Atypical Microdeletions.

Neurofibromatosis type 1 is a tumor predisposition syndrome inherited in autosomal dominant manner. Besides the intragenic loss-of-function mutations in gene, large deletions encompassing the gene and its flanking regions are responsible for the development of the variable clinical phenotype. These large deletions titled as microdeletions lead to a more severe clinical phenotype than those observed in patients with intragenic mutations.

Influencing Factors of Cardiac Adaptation in Adolescent Athletes.

Endurance training-induced changes in left ventricular diastolic function and right ventricular parameters have been investigated extensively in adolescent athletes. Our aim was to examine the parameters for adolescent athletes (n=121, 15.1±1.

Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region.

Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development.

[Genetic aspects of Gorlin‒Goltz syndrome].

Összefoglaló. A Gorlin-Goltz-szindróma - más néven naevoid basalsejtes carcinoma szindróma - egy ritka, viszont számos orvosi társszakmát érintő, rendkívül változatos megjelenésű és genetikailag is heterogén betegség. Bár a tudományos kutatások egyik kedvenc területe, az aránylag alacsony betegszám, valamint a genotípus és a fenotípus közötti, igen komplex összefüggések miatt a kórképről meglévő ismereteink még nem teljesek.

Associations between fitness levels and self-perceived health-related quality of life in community - dwelling for a group of older females.

Background: For older adults perceived quality of life has been linked to the ability to accomplish everyday tasks, a functional capacity which is thought to be based upon physical fitness. Although there is a relationship between physical activity and quality of life in older adults, the fitness of older adults and its relationship to quality of life needs more investigation. Therefore, the purpose of this study was to examine the associations between self-reported health-related quality of life and physical fitness in community-dwelling older females.

Skin wipe test: A simple, inexpensive, and fast approach in the diagnosis of cystic fibrosis.

Objective: To assess the performance of a newly developed skin wipe test (SWT) for the diagnosis of cystic fibrosis (CF).

Study Design: Spontaneously formed sweat from the forearm was wiped by a cotton swab moistened with 100 µL of deionized (DI) water and extracted into 400 µL of DI water (SWT). The conventional Macroduct sweat test (ST) was performed simultaneously.

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the degeneration of motor neurons. Genetic factors play a key role in ALS, and identifying variants that contribute to ALS susceptibility is an important step toward understanding the etiology of the disease. The frequency of protein altering variants in ALS patients has been extensively investigated in populations of different ethnic origin.

Peptidergic signaling from clock neurons regulates reproductive dormancy in Drosophila melanogaster.

With the approach of winter, many insects switch to an alternative protective developmental program called diapause. Drosophila melanogaster females overwinter as adults by inducing a reproductive arrest that is characterized by inhibition of ovarian development at previtellogenic stages. The insulin producing cells (IPCs) are key regulators of this process, since they produce and release insulin-like peptides that act as diapause-antagonizing hormones.

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.

Congenital heart diseases (CHDs) are the most common birth defects among life births, which could be presented as isolated or syndromic with other congenital malformations. The etiology of CHD largely unknown, genetic and environmental factors contribute to the disease. Recurrent copy number variants (CNVs) have been reported in the pathogenesis of CHD.