Kin i kyo Chuo Hospital

Sapporo, Japan

Kin i kyo Chuo Hospital

Sapporo, Japan
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Nakao K.-T.,National Hospital Organization | Usui T.,National Hospital Organization | Ikeda M.,National Hospital Organization | Mori Y.,National Hospital Organization | And 10 more authors.
Head and Neck | Year: 2013

Background: Multiple endocrine neoplasia type 2B (MEN2B) is the rarest and most aggressive form of MEN2. MEN2B cases usually carry either an M918T or A883T mutation of the RET, but to date, there are 3 atypical MEN2B caused by tandem mutations. Methods and Results: A 32-year-old woman with no family history of medullary thyroid carcinoma (MTC) presented with a neck tumor and multiple mucosal nodules. She was diagnosed with MEN2B. Genetic analyses of RET revealed that she had 2 mutations, Q781R and V804M. Subclone and genetic analyses revealed that Q781R was on the paternal allele and V804M was a de novo. In silico analysis of the tandem mutations showed a high prediction score. Conclusions: We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient. In silico analysis showed a high prediction score, which was compatible with the clinical phenotype in the present case. © 2012 Wiley Periodicals, Inc.

Zeniya S.,National Hospital Organization Disaster Medical Center | Yuno A.,Kin i kyo Chuo Hospital | Watanabe T.,Red Cross | Usui T.,National Hospital Organization Kyoto Medical Center | And 3 more authors.
Internal Medicine | Year: 2014

A 22-year-old woman presented to us with seizures of a few minutes duration. She had clinical features of Albright hereditary osteodystrophy (AHO), including hypocalcemia, hyperphosphatemia and resistance to parathyroid hormone. Genetic testing revealed a sporadic form of pseudohypoparathyroidism type Ib (PHPIb). This is the first Japanese case involving overlap between pseudohypoparathyroidism type Ia (PHP Ia) associated with AHO and PHP Ib. It is important to perform both DNA sequencing and methylation status analyses in cases of suspected PHP in patients with signs of AHO. © 2014 The Japanese Society of Internal Medicine.

Nanba K.,National Hospital Organization Kyoto Medical Center | Usui T.,National Hospital Organization Kyoto Medical Center | Nakamura M.,National Hospital Organization Kyoto Medical Center | Toyota Y.,National Hospital Organization Kyoto Medical Center | And 9 more authors.
Endocrine Practice | Year: 2013

Objective: Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification. Methods: A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed. Results: Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome. Conclusion: We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification. Copyright © 2013 AACE.

Koyama J.,Kin I Kyo Chuo Hospital | Honjo S.,Kin I Kyo Chuo Hospital | Morizono R.,Kin I Kyo Chuo Hospital | Morita K.,Kin I Kyo Chuo Hospital | And 6 more authors.
Acta Hepatologica Japonica | Year: 2010

A 75-year-old man has been followed up at our outpatient clinic for liver cirrhosis and hepatocellular carcinoma (HCC) caused by chronic hepatitis C virus infection. He had hematochezia found on March 2008, and subsequent colonoscopy identified the bleeding from rectal varices. In July 2008,he admitted to our hospital for the treatment of HCC. Portography via superior mesenteric and splenic artery was performed during the treatment, and no hepatofugal flow was detected. Instead, inferior mesenteric arterial portography revealed that inferior mesenteric artery feeded rectum, and visualized rectal varices, then outflow from inferior mesenteric vein to splenic vein as a drainage route. Thereafter we performed the combinational treatment with both endoscopic varices ligation (EVL) and endoscopic injection sclerotherapy (EIS).In details, we first operated EVL targeted the possible site for the out-wall flow of rectum at the oral edge of rectal varices, followed by the EIS under radiographical guidance. Subsequent contrast-enhanced CT confirmed the disappearance of the flow of the rectal varices. This case represented the successful treatment strategy of combined EVL and EIS following the evaluation of the hemodynamics of rectal varices using arterial portography. © 2010 The Japan Society of Hepatology.

Takagi H.,Kin I Kyo Chuo Hospital | Nishio H.,Kin I Kyo Chuo Hospital | Goto T.,Kin I Kyo Chuo Hospital | Morita K.,Kin I Kyo Chuo Hospital | And 6 more authors.
Journal of Japanese Society of Gastroenterology | Year: 2012

We report a case of a 68-year-old woman with chronic hepatitis C who presented with a small hepatocellular carcinoma in segment 8 (S8) of liver and a portal hepatic tumor. Transhepatic arterial infusion therapy was performed, followed by partial hepatic resection of S8 and excision of the portal hepatic tumor with lymph node metastasis. Histologically, the lymph nodes showed marked infiltration of large histiocytes with clear cytoplasm and emperipolesis in the specimen stained with hematoxylin-eosin. These findings were generally compatible with the histological features of Rosai-Dorfman disease (RDD). However, immunohistochemical analysis revealed the proliferating histiocytes were negative for CD1a CD68 and SlOO protein, but positive for only lysozyme. Therefore, we finally diagnosed it as a disease similar to RDD. This was a difficult case diagnostically distinguish between metastasis and benign disease.

Koyama J.,Kin I Kyo Chuo Hospital | Morizono R.,Kin I Kyo Chuo Hospital | Goto T.,Kin I Kyo Chuo Hospital | Morita K.,Kin I Kyo Chuo Hospital | And 4 more authors.
Acta Hepatologica Japonica | Year: 2013

A 73 year-old man who was diagnosed as hepatocellular carcinoma (HCC) underwent extended right hepatic lobectomy. Four years after the hepatectomy, multiple nodules in bilateral lungs were detected. A diagnostic percutaneous biopsy revealed pulmonary metastases from HCC. The patient was treated with oral uracil/tegafur (UFT) first. However, his condition deteriorated because of refractory massive hemoptysis. Therefore, bronchial arterial infusion (BAI) of epirubicin (EPI) was performed twice for a metastatic mass at right pulmonary hilum. In contrast to decreasing trend of tumor burden, improvement of hemoptysis was not observed. The replacement of EPI with fine-powder cisplatin (IAC) finally contributed to complete disappearance of a metastatic mass and his symptom. Additional treatment for another nodule at right azygos lobe was successfully performed as well. The efficacy of BAI for the other metastatic nodules without hypervascular stain by angiography was not certified. BAI could be a useful therapeutic option for symptomatic pulmonary metastases, if the primary lesion is well-controlled. © 2013 The Japan Society of Hepatology.

Koyama J.,Kin I Kyo Chuo Hospital | Honjo S.,Kin I Kyo Chuo Hospital | Morizono R.,Kin I Kyo Chuo Hospital | Goto T.,Kin I Kyo Chuo Hospital | And 5 more authors.
Japanese Journal of Cancer and Chemotherapy | Year: 2011

The patient was a 61-year-old female with alcoholic liver cirrhosis, who was admitted to our hospital due to elevation of AFP. During the evaluation, both abdominal ultrasound and enhanced abdominal CT revealed a hepatocellular carcinoma measuring 4 cm in the S6-7 region, complicated with an arteriovenous shunt. Additionally, the lung CT examination showed 20 isolated bilateral lung tumors, all of which were less than 1.4 cm in diameter. Following the diagnosis, we performed a transcatheter arterial infusion chemotherapy of SMANCS at 3 mg through the right heptic artery. Thereafter, the AFP level returned to normal. Additionally, the tumors previously observed in both liver and lung, and exhibited by both lung CT and enhanced abdominal MRI, had disappeared. The patient has been in clinical remission more than 10 years to date.

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