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1.
Am J Med Genet A ; 194(5): e63538, 2024 May.
Article in English | MEDLINE | ID: mdl-38214061

ABSTRACT

Individuals with differing forms of skeletal dysplasias (SD) frequently report impaired mobility and symptoms. With the objetive to evaluate mobility and associated symptoms in people with SD at an Argentinian pediatric hospital, using an Argentinian version of the Screening Tool for Everyday Mobility and Symptoms (STEMS), a simple questionnaire that allows clinicians to quickly identify the presence of symptoms associated with mobility in people with SD, while considering different environmental settings and the use of assistive devices, an analytical study of a consecutive sample of patients older than 5 years with SD and their affected relatives was carried out.Diagnosis, comorbidities, socioenvironmental, therapeutic, auxological and mobility variables were recorded. The presence and intensity of symptoms was noted through use of both the STEMS and validated scales. Descriptive, association and correlation analyzes were performed. One hundred and nineteen individuals with SD were enrolled in the study and divided into groups: Osteogenesis Imperfecta (OI, n = 55), Achondroplasia (ACH, n = 36) and Other SD resulting in disproportionate short stature (n = 28). Mobility assistive devices were almost exclusively used by individuals with OI. They were more frequently used by individuals with overweight and obesity, more severe form of the disease and in the outdoor settings. Two thirds (66.4%) of the individuals assessed in this study reported pain, 87.4% reported fatigue, and 58.8% reported both pain and fatigue. The intensity of symptoms was similar between groups and correlated with age and auxological variables. The STEMS was clear, easy and quick to use for identifying presence of pain and fatigue in this population group. The STEMS proved to be a simple and useful tool for evaluating functional mobility and associated symptoms in our population of individuals with SD.


Subject(s)
Achondroplasia , Osteogenesis Imperfecta , Child , Humans , Osteogenesis Imperfecta/diagnosis , Achondroplasia/diagnosis , Achondroplasia/epidemiology , Achondroplasia/complications , Surveys and Questionnaires , Pain , Fatigue/diagnosis
2.
Science ; 204(4393): 611-3, 1979 May 11.
Article in English | MEDLINE | ID: mdl-17839483

ABSTRACT

SOLTRAN is a flexible computer model for the direct solar beam intensity spectrum at the earth's surface. It has been derived by combining the extra-terrestrial solar spectrum with the atmospheric transmittance spectrum. Application of SOLTRAN to the calculation of the potential efficiency of photovoltaic cells demonstrates the effect of atmospheric absorption bands. These bands prevent unequivocal assignment of optimum energy gap values.

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