Sun Y.,Leiden University |
Almomani R.,Leiden University |
Aten E.,Leiden University |
Celli J.,Leiden University |
And 11 more authors.
American Journal of Human Genetics | Year: 2010
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. After performing X-exome capture and sequencing, we identified a mutation at the last nucleotide of exon 31 of the FLNA gene as the most likely cause of the disease. The variant c.5217G>A was found in six unrelated cases (three families and three sporadic cases) and was not found in 400 control X chromosomes, pilot data from the 1000 Genomes Project, or the FLNA gene variant database. In the families, the variant segregated with the disease, and it was transmitted four times from a mildly affected mother to a more seriously affected daughter. We show that, because of nonrandom X chromosome inactivation, the mutant allele was not expressed in patient fibroblasts. RNA expression of the mutant allele was detected only in cultured fibroma cells obtained from 15-year-old surgically removed material. The variant activates a cryptic splice site, removing the last 48 nucleotides from exon 31. At the protein level, this results in a loss of 16 amino acids (p.Val1724-Thr1739del), predicted to remove a sequence at the surface of filamin repeat 15. Our data show that TOD is caused by this single recurrent mutation in the FLNA gene. © 2010 The American Society of Human Genetics. All rights reserved.
Muramatsu T.,Nagoya University |
Matsushita K.,Nagoya University |
Yamashita K.,Nagoya University |
Kondo T.,Nagoya University |
And 9 more authors.
Hypertension | Year: 2012
It has not been fully examined whether angiotensin II receptor blocker is superior to calcium channel blocker to reduce cardiovascular events in hypertensive patients with glucose intolerance. A prospective, open-labeled, randomized, controlled trial was conducted for Japanese hypertensive patients with type 2 diabetes mellitus or impaired glucose tolerance. A total of 1150 patients (women: 34%; mean age: 63 years; diabetes mellitus: 82%) were randomly assigned to receive either valsartan- or amlodipine-based antihypertensive treatment. Primary outcome was a composite of acute myocardial infarction, stroke, coronary revascularization, admission attributed to heart failure, or sudden cardiac death. Blood pressure was 145/82 and 144/81 mm Hg, and glycosylated hemoglobin was 7.0% and 6.9% at baseline in the valsartan group and the amlodipine group, respectively. Both of them were equally controlled between the 2 groups during the study. The median follow-up period was 3.2 years, and primary outcome had occurred in 54 patients in the valsartan group and 56 in the amlodipine group (hazard ratio: 0.97 [95% CI: 0.66-1.40]; P=0.85). Patients in the valsartan group had a significantly lower incidence of heart failure than in the amlodipine group (hazard ratio: 0.20 [95% CI: 0.06-0.69]; P=0.01). Other components and all-cause mortality were not significantly different between the 2 groups. Composite cardiovascular outcomes were comparable between the valsartan- and amlodipine-based treatments in Japanese hypertensive patients with glucose intolerance. Admission because of heart failure was significantly less in the valsartan group. © 2012 American Heart Association, Inc.
Tanemura E.,Nagoya University |
Nagatani T.,Nagoya University |
Aimi Y.,Yokkaichi Municipal Hospital |
Kishida Y.,Fukushima Medical University |
And 2 more authors.
Acta Neurochirurgica | Year: 2012
Background: Nonfunctioning pituitary macroadenoma (NFMA) is a benign neoplasm that causes visual function disturbances and headaches and can be treated by transsphenoidal surgery (TSS). It is unclear how quality of life (QOL) changes with surgery and which QOL factors are affected by treatment. Methods: The aim is to assess the temporal transition of QOL in NFMA patients undergoing TSS and to identify influential factors. The QOL of NFMA patients who underwent endoscopic TSS was investigated with the short-form 36 (SF-36) health survey questionnaire, general health questionnaire 30(GHQ30), and numerical rating scale (NRS) of pain at the following three time points: immediately before, 1 month after, and 6 months after surgery. Results: Twenty-four of 30 patients had visual deterioration. The SF-36 baseline value of visual function-impaired NFMA patients was lower than that of the normal population. SF-36 results showed that physical summary scores decreased at 1 month after the operation, but recovered up to the normal population level by 6 months. Mental summary scores generally increased at 1 month after surgery and remained stable until 6 months later. The GHQ30 results were similar to the SF-36 mental summary scores. The strongest factor related to the QOL was visual function. The amount of pain and the necessity of hormonal replacement were also influencing factors. Conclusions: The QOL of NFMA patients is affected both physically and mentally by surgical treatment and symptoms. This QOL assessment is important for planning treatment strategies. © Springer-Verlag 2012.
Niimi T.,Yokkaichi Municipal Hospital |
Gotoh M.,Yokkaichi Municipal Hospital
Kyobu geka. The Japanese journal of thoracic surgery | Year: 2010
We present a rare case of pneumothorax due to the perforation of bullae associated with congenital bronchial atresia. A 25-year-old woman complained of right chest pain and shortness of breath. Chest radiography revealed a right pneumothorax. Chest tube drainage was performed. When the lung re-expanded, chest computed tomography (CT) showed blind-ending B4 of the right middle lobe associated with mucoid impaction and hyperlucency of the corresponding lung parenchyma. Additionally, there were multiple air cysts located at the affected lung surface. A surgical procedure was considered because of persistent air leaks. At operation, several bullae projected above the pleural surface of the hyperinflated S4, and one of the bullae ruptured. A lateral segmentectomy of the middle lobe was successfully performed by thoracoscopy-assisted limited thoracotomy. Diagnosis of congenital bronchial atresia and subpleural bullae was confirmed by pathological examination.
Tamenishi A.,Yokkaichi Municipal Hospital |
Matsumura Y.,Yokkaichi Municipal Hospital |
Okamoto H.,Yokkaichi Municipal Hospital
Annals of Thoracic Surgery | Year: 2013
Solitary fibrous tumor of the pleura is a rare primary tumor arising from mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. Most solitary fibrous tumor of the pleura arises from the visceral or the parietal pleura, and asymptomatically occupies the hemithoracic cavity. We report a rare case of solitary fibrous tumor of the pleura causing cardiac tamponade. A 30-year-old woman presented with pericardial tumor. The surgical resection of the tumor was complete. We describe the details of this case and a brief review of the literature about solitary fibrous tumor. © 2013 The Society of Thoracic Surgeons.
Matsumura Y.,Yokkaichi Municipal Hospital
Kyobu geka. The Japanese journal of thoracic surgery | Year: 2012
Optimal timing of surgical repair for traumatic aortic injury (TAI) is still controversial. We have experienced 3 cases of TAI. The 1st one suffered from severe multisystem trauma in addition to TAI, so we performed graft replacement of the proximal descending aorta electively 31 days after the injury. The 2nd one had massive pleural effusion on admission and we performed urgent operation. They recovered uneventfully. The last one died of aortic re-rupture during anesthetic induction despite attempting emergent operation. In patients with serious multisystem trauma besides TAI, surgical repair can be delayed as long as there are no signs of on-going rupture and/or bleeding, however close observation, serial computed tomography( CT) check-ups and strict control of blood pressure are needed.
Shibayama M.,Yokkaichi Municipal Hospital
Nihon Arukōru Yakubutsu Igakkai zasshi = Japanese journal of alcohol studies & drug dependence | Year: 2012
We investigated the nature of patients who have a pathological drinking problem visiting the emergency department (ED). During the investigation period, 107 (1.2%) of 8,812 referred patients, including children, were suspected of having consumed alcohol by the medical staff in the ED on the basis of the interview, the smell of alcohol on the patient's breath, pre-hospital information, etc. One hundred and seven patients were divided into either of the two groups, "problem drinkers" or "others". When the patient fulfilled at least one of the following conditions, he/she was categorized as a "problem drinker". The conditions were either drunken patients who did not cooperate with the staff in the ED, who came to the ED after drinking more than two times during the investigation period, who usually consumed over 60 g of ethanol in a day, or who injured themselves intentionally after having consumed alcohol. Statistical significance was revealed with regard to "arrival time" and "diagnosis" between both groups. In the "problem drinkers" group, a larger number of patients visited the ED during the day (08:00-18:00 hrs.) and almost half the illness were diagnosed as trauma-related. The tendency of statistical significance was noted with regard to "sex" and "transportation". There was no statistical significance with regard to "age", "health insurance", "severity of illness", "opportunity to drink", or "CAGE questionnaire.
Uchida Y.,Nagoya University |
Ichimiya S.,Yokkaichi Municipal Hospital |
Ishii H.,Nagoya University |
Kanashiro M.,Yokkaichi Municipal Hospital |
And 7 more authors.
Circulation Journal | Year: 2012
Background: Microvascular impairment is associated with a poor prognosis even after successful percutaneous coronary intervention (PCI) in acute myocardial infarction. The aim of the present study was to examine the impact of metabolic syndrome (MetS) on various aspects of microvascular function and clinical outcomes. Methods and Results: In 216 consecutive patients with ST-segment elevation myocardial infarction (STEMI) after successful primary PCI, data were collected and analyzed on epicardial coronary flow, ST-segment resolution (STR) on electrocardiography, maximum serum creatine kinase levels, and the incidence of major adverse cardiac events (MACE). The prevalence of MetS was 40.7% (88 patients). Corrected Thrombolysis In Myocardial Infarction frame count was significantly higher in the MetS group than in the non-MetS group (28.1±9.4 vs. 24.7±7.9, P=0.04). STR ≥50% was observed in 51.1% and 69.5%, respectively (P=0.01). Patients with MetS also had higher maximum creatine kinase levels (3,470±2,320 IU/L vs. 2,664±1,850 IU/L, P=0.01). On logistic regression analysis after adjustment for confounders, MetS was an independent negative predictor of complete STR (odds ratio, 0.49; 95% confidence interval [CI]: 0.25-0.95, P=0.03). On Cox multivariate analysis, MetS was an independent predictor for MACE (hazard ratio, 4.85; 95% CI: 1.28-18.3, P=0.02). Conclusions: MetS may damage microcirculation after direct PCI in patients with STEMI and lead to poor prognosis.
Homma K.,Nihonkai General Hospital |
Otaki Y.,Nihonkai General Hospital |
Sugawara M.,Nihonkai General Hospital |
Kobayashi M.,Yokkaichi Municipal Hospital
Digestive Endoscopy | Year: 2012
Background and Aim: Secure manipulation of forceps in endoscopic submucosal dissection (ESD) for colorectal tumors is sometimes hindered by the characteristics of that organ. SB knife Jr, which are scissor forceps using a mono-pole high frequency, were developed to avoid the difficulty of ESD operation in the colorectum. The aim of the present study was to examine the effectiveness of the SB knife Jr in colorectal ESD in 11 hospitals, mostly in northeastern Japan. Materials: One hundred and two colorectal tumors (49 non-granular laterally spreading tumor [LST] lesions, 39 granular LST lesions and 14 other lesions) that were resected by ESD operations using SB knife Jr between October 2009 and March 2010. Results: All tumors (102/102) were resected en bloc and could be observed in detail. The mean size of the resected pieces was 40.3 mm. The mean operation time was 54.2 min. Of the complications, one case of micro-perforation occurred during the manipulation of submucosal dissection, and this case was treated with clips in that operation. The rates of resection carried out only with SB knife Jr were 74.5% (76/102). Conclusion: The novel ESD using SB knife Jr in the colorectum offers a breakthrough in resection techniques for not only expert endoscopists but also general endoscopists. © 2012 Japan Gastroenterological Endoscopy Society.
Hachisuka T.,Yokkaichi Municipal Hospital
Asian journal of endoscopic surgery | Year: 2012
INTRODUCTION: We report herein a new method of transumbilical laparoscopic surgery using a GelPort through an umbilical zigzag skin incision. The method involves collaborating with plastic surgeons to ensure the procedure was minimally invasive. MATERIALS AND SURGICAL TECHNIQUE: After marking a zigzag skin incision in the umbilical region, the skin was incised along this line. Then, a GelPort double-ring wound retractor was inserted through the incision, which enlarged the diameter of the fascial opening to 6 cm. The Gelport was latched on the wound retractor ring, following the inflation of the pneumoperitoneum by CO (2). One or more additional ports were inserted as necessary. All operations were performed in the standard fashion. The specimen was easily extracted from the abdomen through the umbilical incision, and anastomosis was performed. Using the above method, we performed the following procedures: one total gastrectomy, one distal gastrectomy, three gastric local resections, five right hemicolectomies, two high anterior resections, three cholecystectomies, and seven transabdominal preperitoneal hernioplasties. All cases were accomplished without any complications using this method. The wounds of the umbilical region were almost "scarless" in all cases. DISCUSSION: We developed an umbilical zigzag skin incision technique to perform abdominal laparoscopic operations using a GelPort, with a minimal number of skin incisions. We consider that our method reduces the technical difficulties associated with laparoscopic surgery and maintains cosmesis. © 2012 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and Blackwell Publishing Asia Pty Ltd.