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Evaluation of sleep disorders in children and adolescents affected by Klinefelter syndrome.
Eur J Pediatr
January 2025
Department of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Unlabelled: Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males (47,XXY karyotype in 80-90% of cases), primarily characterized by hypergonadotropic hypogonadism and infertility. It encompasses a broad phenotypic spectrum, leading to variability in neurocognitive and psychosocial outcomes among affected individuals. Despite the recognized correlation between KS and various neuropsychiatric conditions, studies investigating potential sleep disorders, particularly in pediatric subjects, are lacking.
View Article and Find Full Text PDFClinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.
J Community Genet
January 2025
Medical Genetics Unit, University Hospital of Parma, Parma, Italy.
In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues.
View Article and Find Full Text PDFTransosseous Flexor Hallucis Longus Tendon Transfer for Large Achilles Tendon Defects: Surgery Technique and Outcome.
Foot Ankle Int
January 2025
Department of Foot Surgery, Schulthess Klinik, Zurich, Switzerland.
Background: Operative management of chronic Achilles tendinopathy with large defects can be surgically challenging. Concerns exist regarding transosseous transfer of the flexor hallucis longus (FHL) tendon because of the shortened lever arm of flexion and weakening of the big toe. The aim of this study was to demonstrate the 2-year outcome of transosseous FHL transfer for the treatment of large Achilles tendon defects.
View Article and Find Full Text PDFGrowth modeling of the European grayling (Thymallus thymallus L.) in a large alpine river based on age-at-length, mark-recapture, and length-frequency data.
J Fish Biol
January 2025
Aquatic Systems Biology Unit, TUM School of Life Sciences, Technical University of Munich, Freising, Germany.
Animal growth is a fundamental component of population dynamics, which is closely tied to mortality, fecundity, and maturation. As a result, estimating growth often serves as the basis of population assessments. In fish, analysing growth typically involves fitting a growth model to age-at-length data derived from counting growth rings in calcified structures.
View Article and Find Full Text PDFRealizing Antithermal Quenching Red Emission in Mn-Activated RbNaVF for Optical Thermometry Sensor Application.
Luminescence
January 2025
Faculty of Materials Science and Chemistry, China University of Geosciences, Wuhan, China.
Currently, the development of red Mn-activated fluoride luminescent materials attracts a lot of attention in optical thermometry sensors, solid lighting, display, and plant growth areas. Nevertheless, the thermal stability of Mn-activated fluoride luminescent materials is still a crucial issue. Herein, a new red RbNaVF:Mn luminescent material with outstanding thermal stability was successfully synthesized through the facial coprecipitation method.
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