An additional patient with SMAD4-Juvenile Polyposis-Hereditary hemorrhagic telangiectasia and connective tissue abnormalities: SMAD4 loss-of-function and gain-of-function pathogenic variants result in contrasting phenotypes.

Loss-of-function pathogenic variants in somatic and germline cells in SMAD4 may cause cancer and juvenile polyposis-Hereditary Hemorrhagic Telangiectasia (SMAD4-JP-HHT), respectively. In a similar manner, gain-of-function somatic and germline pathogenic variants in SMAD4 can cause various forms of cancer as well as Myhre syndrome. The different SMAD4 molecular mechanisms result in contrasting clinical phenotypes demonstrated by SMAD4-JP-HHT and Myhre syndrome.

Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.

Turner syndrome is recognized now as a syndrome familiar not only to pediatricians and pediatric specialists, medical geneticists, adult endocrinologists, and cardiologists, but also increasingly to primary care providers, internal medicine specialists, obstetricians, and reproductive medicine specialists. In addition, the care of women with Turner syndrome may involve social services, and various educational and neuropsychologic therapies. This article focuses on the recognition and management of Turner syndrome from adolescents in transition, through adulthood, and into another transition as older women.

Diagnosis and prevention of overtraining syndrome: an opinion on education strategies.

Overtraining syndrome is a condition of maladapted physiology in the setting of excessive exercise without adequate rest. The exact etiology and pathogenesis are unknown and being investigated. Symptoms are multisystem in nature and often representative of underlying hormonal, immunologic, neurologic, and psychologic disturbances.

Overtraining syndrome: a practical guide.

Context: Fatigue and underperformance are common in athletes. Understanding overtraining syndrome (OTS) is helpful in the evaluation, management, and education of athletes.

Evidence Acquisition: Relevant articles in English were searched with OVID (1948-2011) and PubMed using the following keywords: overtraining syndrome, overtraining, overreaching, unexplained underperformance, staleness, pathophysiology, management, treatment, evaluation.

Attention deficit hyperactivity disorder and the athlete: an American Medical Society for Sports Medicine position statement.

Attention deficit hyperactivity disorder (ADHD) is an important issue for the physician taking care of athletes since ADHD is common in the athletic population, and comorbid issues affect athletes of all ages. The health care provider taking care of athletes should be familiar with making the diagnosis of ADHD, the management of ADHD, and how treatment medications impact exercise and performance. In this statement, the term "Team Physician" is used in reference to all healthcare providers that take care of athletes.

Clavicle fractures.

Clavicle fractures are most common in children and young adults, typically occurring in persons younger than 25 years. Its superficial location, its thin midshaft, and the forces transmitted across it make the clavicle a common site for injury. The most common mechanism of injury is a forceful fall with the arm at the side, which commonly occurs during contact sports.