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Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described. Here, we report a family with a unique clinical presentation., Methods: Exome sequencing was performed for twin siblings with micropenis, suspected??? HH, and congenital giant bladder diverticula., Results: We identified a novel likely pathogenic heterozygous TBX3 variant c.844G>T p.(Gly282Cys) inherited from the apparently unaffected mother. Reverse phenotyping confirmed that the mother and the twins had features suggestive of UMS spectrum. The mother had been diagnosed as having HH, with an hypoplastic pituitary gland. The physical examination revealed a bifid nasal tip and a bi-lobulated tongue tip typical for UMS with no apparent limb or mammary defects., Discussion: This report extends the phenotype of the TBX3-related disorder to include HH and bladder anomalies without significant limb or mammary manifestations., Competing Interests: Declaration of Competing Interest We declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2025. Published by Elsevier Masson SAS.)

It is well known that elite athletes of specific ethnicities and/or nationalities dominate certain sports disciplines (e.g., East Africans in marathon running). However, we do not know the nationalities of the fastest non-professional IRONMAN triathletes. Therefore, this study intended to identify the fastest athletes by country of origin competing in IRONMAN triathlon events, focusing on non-professional age group triathletes. Data from all IRONMAN age group athletes competing worldwide between 2002 and 2022 in all official IRONMAN races were collected. Sex, age group, country of origin of the athletes, location and year of the event, split times, overall race times, and transition times were obtained. Additionally, the dataset was augmented with specific data (i.e. event characteristics such as temperatures for water and air and course characteristics for all three split disciplines) related to the different race locations. We limited the analysis to the top 150 countries by participation (i.e. countries with at least 13 successful finishers records in the sample). A total of 677,320 records of IRONMAN age group triathletes originating from 150 different countries and participating in 443 races over 65 different locations were analyzed. European countries such as Germany, Austria, Denmark, Belgium, Switzerland, Norway, Czechia, Estonia, and Slovenia have the fastest IRONMAN age group athletes. IRONMAN Hawaii, IRONMAN Vitoria-Gasteiz and IRONMAN Hamburg are the fastest races. Hilly running and cycling race courses led to slower race times, while flat surfaces, rolling cycling and ocean swimming led to faster race times. Optimal water temperatures were found at 23-25 °C and optimal air temperature ranged between 19-21 and 25-28 °C. The fastest IRONMAN age group triathletes from European countries such as Germany, Austria, Denmark, Belgium, Switzerland, Norway, Czechia, Estonia, and Slovenia. With the presented results for optimal air and water temperatures and description of the optimal cycling and running course characteristics, IRONMAN age group athletes might be able to select an IRONMAN race with the best conditions in order to achieve a fast IRONMAN race time., Competing Interests: Declarations. Ethics approval: This study was approved by the Institutional Review Board of Kanton St. Gallen, Switzerland, with a waiver of the requirement for informed consent of the participants as the study involved the analysis of publicly available data (EKSG 01/06/2010). The study was conducted in accordance with recognized ethical standards according to the Declaration of Helsinki adopted in 1964 and revised in 2013. Competing interests: The authors declare no competing interests., (© 2025. The Author(s).)

Background/objectives: Despite the abundant body of evidence linking high-intensity interval training (HIIT) to cardiometabolic markers, little is known about how HIIT affects liver enzymes, particularly in obese adolescents. This study aimed to investigate the effects of HIIT on metabolic dysfunction-associated steatotic liver disease (MASLD)-related biomarkers in overweight/obese adolescent girls., Methods: Thirty-three overweight/obese adolescent girls (age, 17.0 ± 1.15 yr.; body mass index, 33.3 ± 4.77 kg/m 2 ) were randomly assigned to HIIT ( n = 17) or control ( n = 16) groups. The HIIT group participated in a nine-week HIIT program (three times weekly) without caloric restriction. Maximal aerobic speed, body composition indexes, blood pressure, MASLD-related biomarkers [liver enzymes (alanine aminotransferase (ALT) and aspartate aminotransferase (AST)), plasma lipids, uric acid, platelet count, and homeostasis model assessment index for insulin-resistance (HOMA-IR)] were examined at baseline and after the intervention., Results: Significant "time × group" interactions were found for body composition indexes, systolic blood pressure, maximal aerobic speed, liver enzymes ALT and AST, plasma lipids, glucose, and HOMA-IR. The HIIT program resulted in an increase in maximal aerobic speed ( p = 0.035) and a decrease in body composition and plasma lipids ( p < 0.01), systolic blood pressure ( p = 0.011), ALT ( p = 0.013), AST ( p = 0.012), and HOMA-IR ( p = 0.01), but no significant changes in uric acid and platelet count. None of these markers changed in the control group., Conclusions: HIIT resulted in an improvement in MASLD-related biomarkers. HIIT could be an effective exercise therapy to prevent and reverse MASLD in adolescents with obesity.

This study aims to investigate anthropometric and training characteristics associated with injuries in runners using a complex approach. We conducted a cross-sectional study with 97 Brazilian runners of both sexes (age: 39.1 ± 11.5 years; body mass index: 24.2 ± 4.2 kg/m 2 ). A web survey was used for data collection, including age, sex, body weight, body height, training volume/frequency, session duration, running pace and injury information (yes or no; the number of injuries). The partial correlation parameter was used for network estimation, considering both sexes. For women, injury occurrence was positively and strongly associated with training frequency ( r  = 0.57) and the number of competitions ( r  = 0.64), while for men, a negative and strong association was found with age ( r =-0.69), and positive associations were observed with BMI ( r  = 0.89) and training volume ( r  = 0.82). Network centrality showed that training session duration and the number of competitions/year presented a higher expected influence value for women (-1.47) and men (-1.31). Using a non-linear approach with Brazilian non-professional runners, training characteristics had a stronger influence on running-related injuries.