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141.
Wen-Chen Liang Yukiko K. Hayashi Megumu Ogawa Chien-Hua Wang Wan-Ting Huang Ichizo Nishino Yuh-Jyh Jong 《Neuromuscular disorders : NMD》2013,23(8):675-681
Alpha-dystroglycanopathy is caused by the glycosylation defects of α-dystroglycan (α-DG). The clinical spectrum ranges from severe congenital muscular dystrophy (CMD) to later-onset limb girdle muscular dystrophy (LGMD). Among all α-dystroglycanopathies, LGMD type 2I caused by FKRP mutations is most commonly seen in Europe but appears to be rare in Asia. We screened uncategorized 40 LGMD and 10 CMD patients by immunohistochemistry for α-DG and found 7 with reduced α-DG immunostaining. Immunoblotting with laminin overlay assay confirmed the impaired glycosylation of α-DG. Among them, five LGMD patients harbored FKRP mutations leading to the diagnosis of LGMD2I. One common mutation, c.948delC, was identified and cardiomyopathy was found to be very common in our cohort. Muscle images showed severe involvement of gluteal muscles and posterior compartment at both thigh and calf levels, which is helpful for the differential diagnosis. Due to the higher frequency of LGMD2I with cardiomyopathy in our series, the early introduction of mutation analysis of FKRP in undiagnosed Taiwanese LGMD patients is highly recommended. 相似文献
142.
Takashi Kurashige Tetsuya Takahashi Yu Yamazaki Yoshito Nagano Keita Kondo Takeshi Nakamura Takemori Yamawaki Rie Tsuburaya Yukiko K. Hayashi Ikuya Nonaka Ichizo Nishino Masayasu Matsumoto 《Neuromuscular disorders : NMD》2013,23(11):911-916
Here we report what is to our knowledge the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. The index case is a 52-year-old man with almost 40 years of progressive proximal muscle weakness. High urinary β2 microglobulin, normal serum β2 microglobulin, autophagic vacuoles with sarcolemmal features, and a hemizygous c.164–7T>G mutation in the VMA21 gene were found. His two maternal uncles had similar clinicopathological findings. High urinary β2 microglobulin without obvious renal dysfunction might result from decreased urine acidification in the distal convoluted tubules caused by the VMA21 gene mutation. These findings might prove to be useful as a preliminary marker suggestive of X-linked myopathy with excessive autophagy. 相似文献
143.
144.
Yamaguchi Kosei Kitamura Mineaki Takazono Takahiro Yamamoto Kazuko Hashiguchi Junichiroh Harada Takashi Funakoshi Satoshi Mukae Hiroshi Nishino Tomoya 《Clinical and experimental nephrology》2022,26(10):1022-1029
Clinical and Experimental Nephrology - Withdrawal from maintenance hemodialysis is unavoidable in some patients due to their poor general condition; however, their survival days vary depending on... 相似文献
145.
Yokoyama Keitaro Hashimoto Teruo Okuda Yuri Matsumoto Yu Ito Kyoko Yamada Ryoichi Susai Hiroyuki Nishino Noriaki 《Clinical and experimental nephrology》2022,26(7):688-699
Clinical and Experimental Nephrology - Ferric citrate hydrate (FC) is an oral iron-based phosphate binder that is used to treat hyperphosphatemia in patients with chronic kidney disease (CKD). This... 相似文献
146.
Acute effects of zolpidem on daytime alertness, psychomotor and physical performance 总被引:2,自引:0,他引:2
Ito SU Kanbayashi T Takemura T Kondo H Inomata S Szilagyi G Shimizu T Nishino S 《Neuroscience research》2007,59(3):309-313
In a double-blind cross-over study, seven athletes received zolpidem (10mg) or placebo in two sessions over two nights. Residual effects on subsequent daytime functions were evaluated objectively by measuring psychomotor and physical performance using a combined test of finger dexterity, a simple discriminatory reaction test, critical flicker fusion test (CFF), vertical jump, and 50-m sprint, as well as subjectively, by visual analog scales. Zolpidem shortened self-estimated sleep latency and increased total sleep at nighttime. There was no change in alertness and fatigue scales on the following day in the zolpidem session, but realm of daytime well-being was slightly worsened. The CFF test showed significantly better results in the zolpidem group than in the placebo group. Zolpidem did not have effects in athletic evaluation. Zolpidem has a hypnotic activity without disturbing psychomotor and physical performance on the following day when given to healthy adults, suggesting zolpidem may be used in healthy athletes to adjust their extrinsic sleep disturbances and their consecutive psychomotor and physical impairments. 相似文献
147.
Lu LJ Nishino TK Khamapirad T Grady JJ Leonard MH Brunder DG 《Physics in medicine and biology》2007,52(16):4905-4921
Breast density (the percentage of fibroglandular tissue in the breast) has been suggested to be a useful surrogate marker for breast cancer risk. It is conventionally measured using screen-film mammographic images by a labor-intensive histogram segmentation method (HSM). We have adapted and modified the HSM for measuring breast density from raw digital mammograms acquired by full-field digital mammography. Multiple regression model analyses showed that many of the instrument parameters for acquiring the screening mammograms (e.g. breast compression thickness, radiological thickness, radiation dose, compression force, etc) and image pixel intensity statistics of the imaged breasts were strong predictors of the observed threshold values (model R(2) = 0.93) and %-density (R(2) = 0.84). The intra-class correlation coefficient of the %-density for duplicate images was estimated to be 0.80, using the regression model-derived threshold values, and 0.94 if estimated directly from the parameter estimates of the %-density prediction regression model. Therefore, with additional research, these mathematical models could be used to compute breast density objectively, automatically bypassing the HSM step, and could greatly facilitate breast cancer research studies. 相似文献
148.
Rojas M Nakamura K Seijas D Squiuante G Pieters MA Infante S 《Investigación clínica》2007,48(3):305-315
To assess mercury exposure and potential risk, total mercury (THg-H) and methylmercury (MeHg-H) in hair were studied in 160 adults. The study group consisted of 60 individuals living in the north central coast of Venezuela. A section of the area was known to be contaminated with mercury from a chlor-alkali plant installed near one of the tributary rivers of the Caribbean Sea. The study group was selected from 4 inclusion criteria points. The control group was composed of 100 individuals selected from Carabobo state with no known exposure to Hg. A questionnaire was designed to collect demographic, health information, work activities and fish consumption habits. Hair samples were analyzed for THg. Samples with THg-H > 5 microg/g were also analyzed for MeHg. The mean THg-H was 1.88 +/- 1.50 and 0.99 +/- 0.87 microg/g for the study and control groups, respectively. The study group was statistically higher than control individuals, however, no statistical differences of THg-H were found between each of the 4 categories of both groups. Mean MeHg-H value was 3.67 +/- 1.25 microg/g. Associations were made between Hg-H and several variables. No significant relationship was noted between Hg-H levels and clinical symptoms. R analyses and t-tests were used to determine associations between questionnaire variables and THg-H. The main predictors of THg-H levels in the study group were fish consumption and frequency. As both groups presented relatively low values for THg-H and MeHg-H, the results of this study indicate that Hg exposure did not exceed safe levels. However, a more in-depth exposure assessment should be conducted to more accurately assess this exposure, specifically in terms of Hg content in water and fish sampling. 相似文献
149.
Watanabe R Fujimoto M Ishiura N Kuwano Y Nakashima H Yazawa N Okochi H Sato S Tedder TF Tamaki K 《The American journal of pathology》2007,171(2):560-570
Contact hypersensitivity (CHS) is a cutaneous immune reaction mediated mainly by antigen-specific effector T cells and is regarded as a model for Th1/Tc1-mediated inflammation. However, recent reports have suggested pivotal roles of B cells in CHS. CD19 serves as a positive B-cell response regulator that defines signaling thresholds critical for B-cell responses. In the current study, we assessed the role of the B-cell-specific surface molecule CD19 on the development of CHS by examining CD19-deficient mice. Although CD19-deficient mice are hyposensitive to a variety of transmembrane signals, CD19 loss resulted in increased and prolonged reaction of CHS, suggesting an inhibitory role of CD19 expression in CHS. Sensitized lymph nodes and elicited ear lesions from CD19-deficient mice exhibited Th1/Tc1-shifted cytokine profile with increased interferon-gamma expression and decreased interleukin-10 expression. Adoptive transfer experiments revealed that CD19 expression in recipient mice was required for optimal suppression of CHS response, indicating its role in the elicitation phase. Furthermore, spleen B cells, especially marginal zone B cells, from wild-type mice were able to normalize exaggerated CHS reactions in CD19-deficient mice. Thus, CD19 expression in B cells is critical for termination of CHS responses, possibly through the function of regulatory B cells. 相似文献
150.
The deep cerebellar nuclei (DCN) integrate inputs from the brain stem, the inferior olive, and the spinal cord with Purkinje cell output from cerebellar cortex and provide the major output of the cerebellum. Despite their crucial function in motor control and learning, the various populations of neurons in the DCN are poorly defined and characterized. Importantly, differences in electrophysiological properties between glutamatergic and GABAergic cells of the DCN have been largely elusive. Here, we used glutamate decarboxylase (GAD) 67-green fluorescent protein (GFP) knock-in mice to unambiguously identify GABAergic (GAD-positive) and non-GABAergic (GAD-negative, most likely glutamatergic) neurons of the DCN. Morphological analysis of DCN neurons patch-clamped with biocytin-containing electrodes revealed a significant overlap in the distributions of the soma sizes of GAD-positive and GAD-negative cells. Compared with GAD-negative DCN neurons, GAD-positive DCN neurons fire broader action potentials, display stronger frequency accommodation, and do not reach as high firing frequencies during depolarizing current injections. Furthermore, GAD-positive cells display slower spontaneous firing rates and have a more shallow frequency-to-current relationship than the GAD-negative cells but exhibit a longer-lasting rebound depolarization and associated spiking after a transient hyperpolarization. In contrast to the rather homogeneous population of GAD-positive cells, the GAD-negative cells were found to consist of two distinct populations as defined by cell size and electrophysiological features. We conclude that GABAergic DCN neurons are specialized to convey phasic spike rate information, whereas tonic spike rate is more faithfully relayed by the large non-GABAergic cells. 相似文献