نتایج جستجو برای: jampel syndrome
تعداد نتایج: 621922 فیلتر نتایج به سال:
Schwartz-Jampel syndrome (SJS) is a heterogeneous autosomal recessive syndrome of myotonia and bone dysplasia. Two types have been recognised: the classical type with late infantile or childhood manifestation and a rarer form with neonatal manifestation. We report five families with a total of 11 children affected with severe neonatal SJS. All presented after birth with skeletal abnormalities a...
PURPOSE To describe a patient with Schwartz Jampel vel Aberfeld syndrome (SJS) who underwent orbicularis oculi myectomy as a treatment for blepharospasm. CASE REPORT A 4-year-old child with SJS did not respond to an injection of a single dose of botulinum toxin after one month, so orbicularis myectomy was then performed under general anesthesia. During the procedure, orbicularis vermiform mov...
To elucidate the subjective thermal strain of workers in kitchen working environments, we performed a cross-sectional study involving 991 workers in 126 kitchen facilities in Japan, using a self-reporting questionnaire survey and subjective judgment scales (SJS). The ambient temperature, mean radiant temperature (MRT), and wet-bulb globe temperature (WBGT) index were measured in 10 kitchen faci...
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