J Formos Med Assoc
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Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and weakness. HSP type 15 (SPG15) is an autosomal recessive subtype caused by ZFYVE26 mutations. The aim of this study was to investigate the frequency and clinical and genetic features of ZFYVE26 mutations in a Taiwanese HSP cohort. ⋯ SPG15 accounts for approximately 0.5% (1/195) of the Taiwanese HSP cohort. This study identified the first Taiwanese SPG15 case and delineated the clinical, genetic, neuropsychological, and neuroimaging features. These findings expand the mutational spectrum of ZFYVE26 and also broaden the knowledge of clinical and neuropsychological characteristics of SPG15.
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Donepezil was approved for the treatment of Alzheimer's disease (AD) but causes variable therapeutic responses. Thus, identifying specific genetic polymorphisms, which can predict a therapeutic response to donepezil, would enable a development of personalized strategy to treatment for patients with AD. The research aimed to exam the impact of the cytochrome P450 2D6 (CYP2D6) single nucleotide polymorphism (SNP) rs1080985 on the concentration of and therapeutic response to donepezil in AD. ⋯ The CYP2D6 SNP rs1080985 might be a useful pharmacogenetic marker of the long-term therapeutic response to donepezil in patients with AD.
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Esophageal acid burden in reflux patients with normal endoscopy: Does esophageal peristalsis matter?
A majority of patients with gastroesophageal reflux disease (GERD) have normal endoscopy. We aimed to investigate whether esophageal primary and secondary peristalsis influence esophageal reflux parameters in patients with normal endoscopy. ⋯ In the setting of normal endoscopy, acid reflux burden is more profound in patients with absent primary peristalsis, as well as in patients lacking a secondary peristaltic response to esophageal air distension.
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Fontan operation is the standard surgical procedure for achieving long-term survival in single-ventricular complex congenital heart diseases (SV-CHD). We aim to identify the perioperative outcomes and impact of heterotaxy syndrome (HS) after Fontan operation in a tertiary pediatric cardiology center. ⋯ Surgical outcome has improved much in current era. Perioperative outcome is poorer in patients with HS than other SV-CHD, but HS is not a predictor of perioperative mortality after adjusting for hemodynamic factors.
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To investigate the clinical presentation and survival outcomes of patients with both a high prostate-specific antigen (PSA) value and non-metastatic prostate cancer (PC). ⋯ Patients with a high PSA value were not destined to have metastatic PC. Non-metastatic PC patients with a high PSA level obtained a survival benefit from local prostate-definitive treatments.