Spinocerebellar ataxias (SCAs) are autosomal dominant neurodegenerative disorders which disrupt the afferent and efferent pathways of the cerebellum that cause cerebellar ataxia. Spectrin beta non-erythrocytic 2 (SPTBN2) gene encodes the β-III spectrin protein with high expression in Purkinje cells that is involved in excitatory glutamate signaling through stabilization of the glutamate transporter, and its mutation is known to cause spinocerebellar ataxia type 5. Three years and 5 months old boy with delayed development showed leukodystrophy and cerebellar atrophy in brain magnetic resonance imaging (MRI). Diagnostic exome sequencing revealed that the patient has heterozygous mutation in SPTBN2 (p.Glu1251Gln) which is a causative genetic mutation for spinocerebellar ataxia type 5. With the patient's clinical findings, it seems reasonable to conclude that p.Glu1251Gln mutation of SPTBN2 gene caused spinocerebellar ataxia type 5 in this patient.
Amino Acid Transport System X-AG ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Efferent Pathways ; Exome ; Glutamic Acid ; Humans ; Magnetic Resonance Imaging ; Male ; Neurodegenerative Diseases ; Purkinje Cells ; Spectrin ; Spinocerebellar Ataxias*

OBJECTIVES: To identify the factors that are most significantly associated with the decline of Activities of Daily Living (ADL) status in subjects with Mild Cognitive Impairment (MCI) and early dementia of primary degenerative cause. METHODS: Medical records, results of neuropsychological tests, and Activities of Daily Living scale were retrospectively analyzed in 134 subjects meeting the diagnostic criteria of MCI or early dementia, respectively. Demographic factors, memory functions, depressive symptoms and executive functions of the participants were also analyzed. RESULTS: Correlations revealed that measures of executive functions were significantly associated with ADL status in participants with MCI, while both memory and executive functions were significantly associated in early demented elderly. Stroop test which measures the ability of inhibition showed the closest relation to executive function. Depressive symptoms did not have a significant influence on ADL status. CONCLUSION: Among participants with MCI, the early functional difficulties are associated mainly with executive function, which enables inhibition in particular. In participants with early dementia, on the contrary, the ADL status was associated with both executive function and memory. Further studies on the symptom pattern and related neuropathology in process of dementia progression are needed for Quality of Life (QoL) in elderly population.
Activities of Daily Living ; Aged ; Dementia ; Demography ; Depression ; Executive Function ; Humans ; Medical Records ; Memory ; Mild Cognitive Impairment ; Neuropsychological Tests ; Quality of Life ; Retrospective Studies ; Stroop Test

In this study, the antibacterial effect was evaluated to determine the benefits of high speed drying (HSD) and far-infrared radiation drying (FIR) compared to the freeze drying (FD) method. Citrus press-cakes (CPCs) are released as a by-product in the citrus processing industry. Previous studies have shown that the HSD and FIR drying methods are much more economical for drying time and mass drying than those of FD, even though FD is the most qualified drying method. The disk diffusion assay was conducted, and the minimum inhibitory concentration (MIC) and minimum bactericidal concentration (MBC) were determined with methanol extracts of the dried CPCs against 11 fish and five food-related pathogenic bacteria. The disk diffusion results indicated that the CPCs dried by HSD, FIR, and FD prevented growth of all tested bacteria almost identically. The MIC and MBC results showed a range from 0.5-8.0 mg/mL and 1.0-16.0 mg/mL respectively. Scanning electron microscopy indicated that the extracts changed the morphology of the bacteria cell wall, leading to destruction. These results suggest that CPCs dried by HSD and FIR showed strong antibacterial activity against pathogenic bacteria and are more useful drying methods than that of the classic FD method in CPCs utilization.
Bacteria ; Cell Wall ; Citrus ; Diffusion ; Freeze Drying ; Methanol ; Microbial Sensitivity Tests ; Microscopy, Electron, Scanning

Portal vein thrombosis (PVT) is a form of venous thrombosis that usually presents in chronic form without any sequalae in patients with hepatocellular carcinoma (HCC) or liver cirrhosis. Accurate differential diagnosis of bland PVT from neoplastic PVT is an important step for planning treatment options, but the acute form can be challenging. Here we present a case of acute hepatic infarction caused by acute bland PVT combined with pylephlebitis, which was misdiagnosed as infiltrative hepatic malignancy with neoplastic PVT owing to the perplexing imaging results and elevated tumor markers.
Biomarkers, Tumor ; Carcinoma, Hepatocellular ; Diagnosis, Differential ; Hepatitis B, Chronic ; Humans ; Infarction* ; Liver Cirrhosis ; Portal Vein* ; Tenofovir ; Thrombophlebitis* ; Thrombosis* ; Venous Thrombosis

Hepatocellular carcinoma (HCC) has extremely poor prognosis. Immunotherapy has emerged as a new treatment for a number of cancers. Adoptive immunotherapy is one of the important cancer immunotherapy, which relies on the various lymphocytes including cytotoxic T lymphocytes, natural killer (NK) and cytokine induced killer cells. Also, there has been advance in techniques of NK cell activation to more effectively kill the cancer cells. Of note, recently the blocking antibodies targeting programmed cell death protein 1 (PD-1) have shown promising results in diverse cancers including HCC. We report our recent experience of a patient accompanying advanced HCC with extrahepatic metastases. Disease progression had occurred after sorafenib administration, while the patient showed local tumor control and tumor marker decrease by NK cell immunotherapy combined with PD-1 inhibitor therapy. Though, there was no definite survival advantage due to impaired liver function, which might be caused by treatment related toxicities as well as cancer progression.
Antibodies, Blocking ; Carcinoma, Hepatocellular ; Cell Death ; Cytokine-Induced Killer Cells ; Disease Progression ; Humans ; Immunotherapy ; Immunotherapy, Adoptive ; Killer Cells, Natural ; Liver ; Lymphocytes ; Neoplasm Metastasis ; Prognosis ; Programmed Cell Death 1 Receptor ; T-Lymphocytes, Cytotoxic