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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
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Kojiro Eto Naoya Yoshida Masaaki Iwatsuki Junji Kurashige Satoshi Ida Takatsugu Ishimoto Yoshifumi Baba Yasuo Sakamoto Yuji Miyamoto Masayuki Watanabe Hideo Baba 《World journal of surgery》2016,40(5):1145-1151
Background
Recently, a simple and easy complication prediction system, the Surgical Apgar Sore (SAS) calculated by three intraoperative parameters (estimated blood loss, lowest mean arterial pressure, and lowest heart rate), has been proposed for general surgery. This study aimed to determine if the SAS could accurately predict perioperative morbidity in patients undergoing esophagectomy for esophageal cancer.Methods
We investigated 399 patients who underwent esophagectomy at the Kumamoto University Hospital between April 2007 and March 2015. Clinical data, including intraoperative parameters, were collected retrospectively. Patients had postoperative morbidities classified as Clavien–Dindo grade III or more. Univariate and multivariate analyses were performed to elucidate factors that affected the development of complications.Results
The mean age of the study population was 65.7 years, 357 patients (89.5 %) were male. The frequency of any morbidity was 32.3 %. Univariate analyses showed that the SAS as well as preoperative chemotherapy, volume of bleeding, and reconstruction of organs were associated with morbidities. Multivariate analysis showed that a SAS < 5 was found to be an independent risk factor for morbidities.Conclusion
The SAS is considered to be useful for predicting the development of postoperative morbidities after esophagectomy for esophageal cancer.25.
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Yukari Endo Yoshiaki Saito Taisuke Otsuki Akio Takahashi Yasuhiro Nakata Kazue Okada Mayumi Hirozane Takanobu Kaido Yuu Kaneko Eiko Takada Tetsuya Okazaki Takashi Enokizno Takashi Saito Hirofumi Komaki Eiji Nakagawa Kenji Sugai Masayuki Sasaki 《Brain & development》2014
An 8-year-old boy underwent a resection for focal cortical dysplasia at the left supplementary motor area (SMA) for the treatment of intractable epilepsy. The manifestations of SMA syndrome, such as transient mutism and right hemiparesis, resolved within a few weeks. Verbal disfluency and impaired executive function, accompanied by impulsivity and distractibility, persisted for more than 12 months. The verbal and behavioral problems caused serious difficulties in the school life of the patient, until they became less evident at 18 months after surgery. Tractography performed 18 months after surgery revealed a defect in the subportion of fronto-parietal association fibers within the left superior longitudinal fascicles. Verbal influency can persist with unusually long duration after resection of SMA during childhood. Although not discernible on the routine neuroimaging, white matter damage beneath the SMA region could result in serious disabilities in executive function. These complications should be recognized for the prediction and assessment of deficits in children after surgical intervention involving this region. 相似文献