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Okazaki, Japan

Kimura M.,Aichi Gakuin University | Nagao T.,Okazaki City Hospital | Nagao T.,Kings College | Machida J.,Toyota Memorial Hospital | Warnakulasuriya S.,Kings College
International Journal of Oral and Maxillofacial Surgery

White sponge nevus (WSN) is a rare autosomal dominant disorder characterized by white plaques of oral mucosa; it is benign condition with no effective treatment. The disorder usually manifests during early childhood or adolescence. Mutations of keratin 4 or 13 gene have been identified as causing WSN. The aim of this study is to determine whether keratin 4 or 13 gene mutation was the molecular basis of WSN in a Japanese family. The proband in this family was an 11-year-old boy, with three other people affected by WSN. Genomic DNA was extracted from two affected members and an unaffected member. Segments of keratin 4 and 13 genes were amplified by PCR, and direct DNA sequencing was carried out. Sequence analysis revealed a heterozygous 3 bp deletion (N160Del) localized in the helix-initiation motif at the beginning of alpha-helical domain 1A of keratin 4 gene from affected members. One member lacking the phenotype was genetically tested normal. The authors identified a mutation of the keratin 4 gene recurrent in a family affected by WSN. Further investigation of the multifunctional role of keratin genes is warranted in the group of inherited epithelial disorders that may result in identification of effective treatment for this genetic disease. © 2012 International Association of Oral and Maxillofacial Surgeons. Source

Abstract In advanced non-small-cell lung cancer (NSCLC) patients with severe comorbidity or who are elderly, significant differences exist at the induction of chemotherapy. A 68-year-old man with a history of severe aortic stenosis and cerebral infarction had been receiving hemodialysis for end-stage renal disease. On admission due to loss of consciousness caused by aortic stenosis, a mass in the upper lobe of the right lung with a small amount of pleural effusion was detected. The patient was diagnosed with adenocarcinoma of lung (cT2bN1M1a, stage IV). A weekly regimen of paclitaxel in combination with carboplatin is less toxic than the standard regimen of administering both simultaneously. Therefore, this regimen is preferable for patients with severe comorbidity or who are elderly. For the present case, combination chemotherapy of carboplatin and weekly paclitaxel was selected and administered for four cycles. Tumor response was evaluated as stable disease and adverse events were tolerable. This combination was found to be a candidate regimen for advanced NSCLC patients receiving hemodialysis with severe comorbidity. © 2014 The Author(s). Source

Yanagisawa S.,Okazaki City Hospital
Clinical interventions in aging

Despite the well-understood importance of beta-blocker therapy in heart failure, it is sometimes not possible to use beta-blockers in elderly patients due to poor tolerance. In this report, we describe the case of an 83-year-old patient with severe systolic heart failure complicated by aortic valve stenosis and atrial fibrillation. A simple therapeutic approach involving discontinuation of beta-blockers remarkably alleviated the symptoms such as left ventricular ejection fraction, and improved the chest radiography and laboratory findings; further, atrial fibrillation converted to sinus rhythm. It is important to carefully administer beta-blocker therapy to elderly patients with heart failure, especially after considering cardiac output. Source

Kawakami Y.,Nagoya University | Ito M.,Nagoya University | Hirayama M.,Nagoya University | Sahashi K.,Aichi Medical University | And 6 more authors.

Objective: Muscle-specific receptor tyrosine kinase (MuSK) antibody-positive myasthenia gravis (MG) accounts for 5%-15% of autoimmune MG. MuSK mediates the agrin-signaling pathway and also anchors the collagenic tail subunit (ColQ) of acetylcholinesterase (AChE). The exact molecular target of MuSK-immunoglobulin G (IgG), however, remains elusive. As acetylcholine receptor (AChR) deficiency is typically mild and as cholinesterase inhibitors are generally ineffective, we asked if MuSK-IgG interferes with binding of ColQ to MuSK. Methods: We used 3 assays: in vitro overlay of the human ColQ-tailed AChE to muscle sections of Colq-/- mice; in vitro plate-binding assay to quantitate binding of MuSK to ColQ and to LRP4; and passive transfer of MuSK-IgG to mice. Results: The in vitro overlay assay revealed that MuSK-IgG blocks binding of ColQ to the neuromuscular junction. The in vitro plate-binding assay showed that MuSK-IgG exerts a dosedependent block of MuSK binding to ColQ by but not to LRP4. Passive transfer of MuSK-IgG to mice reduced the size and density of ColQ tõ10% of controls and had a lesser effect on the size and density of AChR and MuSK. Conclusions: As lack of ColQ compromises agrin-mediated AChR clustering in Colq-/- mice, a similar mechanism may lead to AChR deficiency in MuSK-MG patients. Our experiments also predict partial AChE deficiency in MuSK-MG patients, but AChE is not reduced in biopsied NMJs. In humans, binding of ColQ to MuSK may be dispensable for clustering ColQ, but is required for facilitating AChR clustering. Further studies will be required to elucidate the basis of this paradox. Copyright © 2011 by AAN Enterprises, Inc. Source

Takanashi J.-i.,Kameda Medical Center | Imamura A.,Gifu Prefectural General Medical Center | Hayakawa F.,Okazaki City Hospital | Terada H.,Toho University
Journal of the Neurological Sciences

Two patients with clinically mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) exhibiting lesions in the white matter and entire corpus callosum (type 2) are reported. The time course differed between the splenial lesion and other lesions in the white matter and corpus callosum other than the splenium; the latter disappeared earlier than the former. These findings strongly suggest that MERS type 2 resolves completely through MERS type 1 exhibiting an isolated splenial lesion, and MERS types 1 and 2 have the same pathophysiology. The possible prior white matter lesions in patients with MERS type 1 may explain the neurological symptoms or EEG abnormalities. © 2010 Elsevier B.V. All rights reserved. Source

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