Neurosciences
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Gerstmann-Straussler-Scheinker syndrome (GSS) is an exceedingly rare prion disease. There are only 3 case reports of GSS in China. Here we report the first GSS family in southern China. ⋯ This revealed a P102L mutation in the prion protein gene (PRNP) gene, which is commonly found in GSS featuring cerebellar ataxia. However, GSS is an uncommon cause of hereditary cerebellar ataxia that might be overlooked because many neurologists are unfamiliar with it. To avoid misdiagnosis in the patients with hereditary cerebellar ataxia, GSS should be taken into account if other causes are absent, especially in patients that have accompanying psychiatric symptoms and a short survival time.
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To study the safety and efficacy of an innovative device using distraction-based magnetically controlled growing rods (MCGR) for the treatment of pediatric scoliosis. ⋯ Level IV of medical evidence supports the use of MCGR as a safe and effective alternative for the treatment of severe pediatric scoliosis. Recommendation Grade C supports the role of MCGR with DR construct as an option to achieve a better correction of the scoliotic curve and to maximize the postoperative T1 - S1 spinal length.
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To investigate the existence of depression and/or anxiety with underlying risk factors among parents of children with classical phenylketonuria (PKU). ⋯ A subset of parents with PKU patients have an anxiety or depressive disorder. Supportive services dealing with the parents of chronically ill children such as PKU are needed in order to reduce the level of anxiety.
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Case Reports
A rare case of nonenhancing primary central nervous system lymphoma mimic multiple sclerosis.
Primary central nervous system lymphoma (PCNSL) is reported to have increased in the last decades. Early diagnosis is crucial for proper management of this tumor. We report a case of a 48-year-old man who was initially diagnosed with multiple sclerosis. ⋯ However, this individual was correctly diagnosed with PCNSL after biopsy and further histological analysis. Primary central nervous system lymphoma must be considered even when nonenhancing, diffuse lesions are seen on MRI. A visible tumor on imaging is essential to ensure an early brain biopsy and histological diagnosis.
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To identify the level of depression, the level of life quality, and the relationship between these, in patients applying to sleep centers for various sleep problems. ⋯ Sleep quality was significantly poorer in patients who were older aged, married, not working, and who had a chronic disease, and a severe depressive symptom. There was a significantly negative correlation among depression, sleep quality, and life quality, while there was a significantly positive correlation between life quality and depression.