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. We report an additional patient with SMAD4-JP-HHT and aortopathy, and expand the phenotype to include severe valvulopathy, cutaneous, ophthalmologic, and musculoskeletal features consistent with an inherited disorder of connective tissue. We compared this 70-year-old man with SMAD4-JP-HHT to 18 additional literature cases, and also compared patients with SMAD4-JP-HHT to those with Myhre syndrome. In contrast to aorta dilation, hypermobility, and loose skin in SMAD4-JP-HHT, Myhre syndrome has aorta hypoplasia, stiff joints, and firm skin representing an intriguing phenotypic contrast, which can be attributed to different molecular mechanisms involving SMAD4. We remind clinicians about the possibility of significant cardiac valvulopathy and aortopathy, as well as connective tissue disease in SMAD4-JP-HHT. Additional patients and longer follow-up will help determine if more intensive surveillance improves care amongst these patients.

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. It can be viewed as an interpretation of recent international guidelines, complementary to those recommendations, and in some instances, an update. An attempt was made to provide an international perspective. Finally, the women and families who live with Turner syndrome and who inspired several sections, are themselves part of the broad readership that may benefit from this review.

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. Unfortunately, systematic review of the literature does not clearly direct diagnosis, management, or prevention. However, given the severity of symptoms and impairment to quality of life, prevention of overtraining syndrome should be considered by all who interact with endurance athletes. This article will provide suggestions for management of at-risk athletes despite absence of validated diagnostic tests and preventative measures.

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. Bibliographies were reviewed for additional resources. RESULTS: OTS appears to be a maladapted response to excessive exercise without adequate rest, resulting in perturbations of multiple body systems (neurologic, endocrinologic, immunologic) coupled with mood changes. Many hypotheses of OTS pathogenesis are reviewed, and a clinical approach to athletes with possible OTS (including history, testing, and prevention) is presented. CONCLUSIONS: OTS remains a clinical diagnosis with arbitrary definitions per the European College of Sports Science's position statement. History and, in most situations, limited serologies are helpful. However, much remains to be learned given that most past research has been on athletes with overreaching rather than OTS.

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. These providers should understand the side effects of medications, regulatory issues regarding stimulant medications, and indications for additional testing. This position statement is not intended to be a comprehensive review of ADHD, but rather a directed review of the core issues related to the athlete with ADHD.

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. Diagnosis can often be made by the history and physical examination, although appropriate radiography should be used to confirm the diagnosis and guide treatment options. Most clavicle fractures occur in the midshaft and can be treated nonoperatively. A prominent callus is common in children, and parents may require reassurance. If a child has no history of trauma, then malignancy, rickets, and physical abuse should be considered. Surgery is an option in fractures that have high potential for nonunion (e.g., displaced or communited fractures, fractures with more than 15 to 20 mm clavicle shortening). Distal fractures are classified based on the relationship to the coracoclavicular ligaments, which determines the likelihood of displacement. Most distal fractures can also be treated nonoperatively; however, certain factors must be considered in children.