Articles: disease.
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Autosomal recessive polycystic kidney disease (ARPKD) is an autosomal recessive hepatorenal fibrocystic syndrome. The majority of ARPKD patients progress to end-stage renal disease. Precise molecular diagnosis of ARPKD has proven valuable for understanding its mechanism and selecting optimal therapy. ⋯ The novel mutation in polycystic kidney and hepatic disease 1 gene identified by WES might be molecular pathogenic basis of this disorder.
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The aim of this study was to evaluate the clinical and imaging results of transforaminal debridement with a posterior-only approach involving placement of an interbody bone graft combined with diseased vertebral fixation for the treatment of thoracic and lumbar tuberculosis (TB) with a minimum 5-year follow-up. Sixty-five patients who presented with active thoracic and lumbar TB between October 2006 and August 2013 were retrospectively analyzed: 20 were thoracic TB (group A), 17 were thoracolumbar TB (group B), and 28 were lumbar TB (group C). The patient data, operating time, blood loss, Visual Analog Scale score, Oswestry Disability Index score, correction of kyphosis, recovery of neurological function, and complications were recorded and analyzed. ⋯ The posterior-only approach for the surgical treatment of thoracic and lumbar TB achieved satisfactory outcomes over long-term follow-up. The implantation of pedicle screws in diseased vertebrae reduced the range of fixation, but patients with thoracic and thoracolumbar TB should undergo fixation to at least 1 adjacent normal segment. There were some cases of recurrence after TB healed, and long-term follow-up is therefore necessary.
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Observational Study
Characteristics of diffusion tensor imaging of central nervous system in children with tourette's disease.
To investigate the characteristics of diffusion tensor imaging (DTI) of the central nervous system in children with Tourette syndrome (TS). Fifteen children with TS (TS group) and 15 normal children (control group) were studied, and all of them underwent DTI. The apparent diffusion coefficient (ADC) and fractional anisotropy (FA) parameters were calculated using the DTIStudio software. ⋯ No correlation was found between FA and ADC values in other brain regions and the YGTSS score (P > .05). After the DTI analyses, abnormalities were found in the left globus pallidus, right caudate nucleus, and bilateral thalamus in children with TS. Especially the changes in the left thalamus structure was crucial in the pathophysiological clock of TS.
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Malignant peritoneal mesothelioma is a rare tumor with a poor prognosis and has no recommended therapy after first-line pemetrexed and platinum-based chemotherapy. Moreover, effects of immune checkpoint inhibitors on peritoneal mesothelioma remains to be elucidated. We herein report the case of a 75-year-old man with peritoneal mesothelioma treated with cisplatin plus pemetrexed and subsequent nivolumab. ⋯ To our knowledge, this is the first report of hyperprogressive disease in a case of peritoneal mesothelioma after nivolumab treatment. While immune checkpoint inhibitors may be promising therapeutic strategies for treating malignant peritoneal mesothelioma, careful monitoring must be practiced with their application.
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Case Reports
Rehabilitative management of an infant with Pelizaeus-Merzbacher disease: A case report.
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive trait and a rare disease characterized by abnormal myelin formation in the central nervous system. Since Pelizaeus and Merzbacher reported the pathology of PMD in the 1990s most studies have examined pharmacological treatments. No studies have reported the effects of rehabilitation on patients with PMD aimed at improving their functional abilities. We report the first case of improved development after rehabilitation in a patient with Pelizaeus-Merzbacher disease. ⋯ Rehabilitation training can help PMD patients achieve maximal function and catch-up in their growth.