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 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The relationships between the discipline of exercise physiology and the activities of the Harvard Fatigue Laboratory were examined. Even though 5 decades have elapsed since the Laboratory's closure, its existence, leaders, and accomplishments continue to be revered by exercise physiologists. The Laboratory was unique because it was the first research facility of its type and because no single exercise physiology laboratory in the United States since 1947 has been able to attract the stature of the national and international investigators that conducted the interdisciplinary research published by the Laboratory. Despite the inference from its name, the Laboratory's purpose was not to advance the discipline of exercise physiology; rather, it was to advance our understanding and interactions of applied physiology, physiology, and sociology. Consequently, its contributions to the critical mass of exercise physiology literature were limited even though may of the publications were seminal in nature. As documented by the Horvaths, the closure resulted in the establishment of many different research laboratories by former Laboratory staff members and associates (R.E. Johnson at Illinois, Horvath at Santa Barbara, and Dill at Nevada); however, their impact on exercise physiology was delayed because Keys and Robinson had left for Minnesota and Indiana, respectively, well in advance of closing. Unfortunately, the administrative structure and organization of the Laboratory was not conducive to the training of Ph.D candidates with an interest in exercise physiology. Consequently, only two individuals graduated during its existence. Since departments of physiology or biology had limited faculty or interest in preparing students for such a future before and after closure, departments of physical education with specialization graduate programs in exercise physiology assumed this responsibility, which was facilitated by post-World War II funding that supported mass education, graduate training, health related research, and facility development. Today, the majority of the leaders in exercise physiology are the "products" of the specialization movement. Although undergraduates were encouraged to participate in the research activities, the talented faculty of the Laboratory did not offer formal courses in exercise physiology. Thus, the development of an academic discipline in exercise physiology was left to institutions that required a science-oriented curriculum in their undergraduate and graduate degree programs in physical education, exercise science, or kinesiology. The emergence of exercise physiology as a discipline in the United States was enhanced by the publications of the Journal of Applied Physiology in 1948 and by Medicine and Science in Sports in 1969. These were peer-reviewed journals that were interested in publishing research studies on exercise topics. Two other reasons contributed to its development. The first was the creation of an Applied Physiology Study Section at the National Institute of Health in 1964, whose purpose was to evaluate grant proposals in subject matter area intrinsic to exercise physiology, while the second reason was the formation of the American College of Sports Medicine in 1954. ACSM was an important for the establishment of the discipline because it had an organizational structure that encouraged exercise physiologists to join, provided opportunities for members to present at regional and national meetings, and would publish their findings. Although the American Physiological Society had been established more than a 100 years ago, only a limited number of its members were interested and active in exercise physiology at the time of the Laboratory's closure or at the beginning of the specialization era (1963). However, in 1977, APS created a membership section that included exercise physiology in its title. Currently, both APS and ACSM are effectively representing the professional interests of exercise ph
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PMID:Contemporary exercise physiology: fifty years after the closure of Harvard Fatigue Laboratory. 969 94

A 32-year-old student reported fatigue and malaise since two months in the absence of specific symptoms. Clinical examination and extensive laboratory testing revealed no abnormalities at his first presentation. Some weeks thereafter, on re-admission, hyperpigmentation suggestive of Addison's disease was observed and pathognomonic autoantibodies directed against the thyroid gland and the adrenal cortex were detected. Further evaluation led to the diagnosis autoimmune polyglandular deficiency syndrome, also named "Schmidt syndrome", comprising adrenocortical insufficiency (Addison's disease) and lymphocytic thyroiditis (Hashimoto thyroiditis). The diagnosis of polyglandular insufficiency is often delayed due to non-specific symptoms at early disease stages and progression may be rapid, culminating in Addisonian crisis under physical stress or infection, requiring immediate high-dose hormone replacement therapy. Hence, careful re-examination is mandatory to ensure adequate treatment before life-threatening complications occur. Nowadays this type of disease is classified as autoimmune polyglandular syndrome type II (APS type II) with an increased risk of developing insulin-dependent diabetes mellitus (IDDM), vitiligo, alopecia, pernicious anaemia, coeliac disease, myasthenia gravis and primary hypogonadism. The cause of the disease remains obscure but in addition to an autosomal dominant trait with variable penetrance some hints at viral infection triggering the disease process exist.
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PMID:32-year old patient presenting with autoimmune polyglandular syndrome. 1131 87

Autoimmune polyglandular syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare autoimmune disease that results from autosomal recessive mutations of the human autoimmune regulatory (AIRE) gene. We present the case of a 17-year-old North American girl of primarily Norwegian descent with a novel AIRE gene mutation causing APS-1. In addition to the classic triad of chronic candidiasis, hypoparathyoidism and autoimmune adrenocortical insufficiency, she also has vitiligo, intestinal malabsorption, autoimmune hepatitis, autoimmune hypothyroidism, myositis, myalgias, chronic fatigue, and failure to thrive. Genetic testing revealed heterozygosity for c.20_115de196 and c.967_979del13 mutations in the AIRE gene. The AIRE gene c.20_115de196 mutation has not been previously reported.
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PMID:Polyglandular autoimmune syndrome type I - a novel AIRE mutation in a North American patient. 2494 21

Adrenal insufficiency is a rare, potentially life-threatening condition whose diagnosis requires a high index of suspicion. Adrenal insufficiency may be primary, secondary, or tertiary with varied etiologies. Primary insufficiency may be part of a cluster of autoimmune diseases, referred to as autoimmune polyglandular syndrome(s) (APS). We describe a case of a 15-year-old male who presents to a local emergency department complaining of fatigue, fever, abdominal pain, nausea, and vomiting for a few days with a preceding viral illness. The patient was hyponatremic and hyperkalemic with skin hyperpigmentation, raising concern for adrenal insufficiency. Laboratory workup confirmed autoimmune primary adrenal insufficiency, with subsequent laboratory studies revealing autoimmune thyroiditis and celiac disease. Concomitant Addison's and Hashimoto's diseases led to a diagnosis of APS type 2. The patient was started on steroid replacement with rapid clinical improvement.
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PMID:A Rare Case of Autoimmune Polyglandular Syndrome Type 2 in a Child With Persistent Fatigue. 3108 Aug 49

Background Primary adrenal insufficiency (PAI) in children is a rare condition and potentially lethal. The clinical characteristics are non-specific. It may be manifested as a chronic condition or crisis. The etiologies of PAI in children are different from the adult population. Therefore, diagnostic investigation becomes challenging. Methods A retrospective study was conducted at The First Affiliated Sun Yat Sen University Pediatric Endocrine unit between September 1989 and July 2016. Results A total of 434 patients (237 males, 197 females) were identified as having PAI. Congenital adrenal hyperplasia (CAH) was the most frequent etiology (83.4%, n = 362, male:female = 174:188), of which 351 (97.2%) were 21-hydroxylase deficiency (21-OH) CAH. Non-CAH etiology accounted for 11.3% (n = 49, male:female = 47:2), of which 46 (93.9%) were of non-autoimmune. The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). The etiology was not identified for 23 patients (5.3%, male:female =16:7). Clinical symptoms were in accordance with the incidence of genital ambiguity (42.6%), digestive symptoms (vomiting and diarrhea) (35.5%), failure to thrive (26.5%), gonadal-associated symptom (premature puberty, sexual infantilism and amenorrhea) (21.2%), hyperpigmentation (9.7%), adrenal crisis (AC; 4.1%), neurological symptoms (3.2%), fatigue (2.5%) and prolonged jaundice (2.1%). Through physical examination, 58.5% were found to have hyperpigmentation. Conclusions This study spanned 29 years at our institution. The etiology of PAI in children was mostly of congenital forms, which exhibits a wide spectrum of clinical characteristics. For etiological diagnosis, chromosomal karyotyping is recommended for female phenotype patients.
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PMID:Etiology of primary adrenal insufficiency in children: a 29-year single-center experience. 3114 83