The purpose of this study was to examine the influence of the energy cost of swimming, body composition, and technical parameters on swimming performance in young swimmers. Twenty-nine swimmers, 15 prepubertal (11.9 +/- 0.3 years; Tanner Stages 1-2) and 14 pubertal (14.3 +/- 1.4 years; Tanner Stages 3-4) boys participated in the study. The energy cost of swimming (Cs) and stroking parameters we...

OBJECTIVE To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at fir...

Goalball is a Paralympic sport exclusively for athletes who are visually impaired and blind. The aims of this study were twofold: to describe game performance of elite male goalball players based upon the degree of visual impairment, and to determine if game performance was related to anthropometric characteristics of elite male goalball players. The study sample consisted of 44 male goalball a...

Deficiency of the short stature homeobox-containing (SHOX) gene is a frequent cause of short stature in children (2-15%). Here, we report 7 siblings with SHOX deficiency due to a point mutation in the SHOX gene. Index case was a 3-year-old male who presented for evaluation of short stature. His past medical history and birth history were unremarkable. Family history was notable for multiple ind...

A 53-year-old Caucasian woman was diagnosed in late childhood with Marfan syndrome according to characteristic skeletal features and bilateral lens dislocation. In addition, she has a history of nonischemic cardiomyopathy with severe left ventricular failure and atrial fibrillation, diabetes mellitus type 2, hyperlipidemia, progressive dementia, numbness in the lower extremities, and hypothyroi...

To determine the differences between arm and leg muscle quality (MQ) across the adult life span in men and women, concentric (Con) and eccentric (Ecc) peak torque (PT) were measured in 703 subjects (364 men and 339 women, age range 19-93 yr) and appendicular skeletal muscle mass (MM) was determined in the arm and leg in a subgroup of 502 of these subjects (224 men and 278 women). Regression ana...