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Odawara, Japan

Kizawa T.,Yokohama City University | Nozawa T.,Yokohama City University | Kikuchi M.,Yokohama City University | Nagahama K.,Nippon Medical School | And 7 more authors.
Modern Rheumatology | Year: 2015

Objectives. We evaluated histological changes occurring in renal biopsy specimens, between the time before initial induction therapy and after 12 months’ maintenance therapy, as well as changes in laboratory parameters, SLE disease activity (SLEDAI), and dosage of corticosteroid (CS) in childhood-onset systemic lupus erythematosus (SLE) patients treated with mycophenolate mofetil (MMF). Methods. A retrospective analysis was performed on nine patients diagnosed with childhoodonset SLE and lupus nephritis. They were treated with pulsed mPSL and intravenous cyclophosphamide as induction therapy and MMF (500 – 1500 mg/day) plus CS as maintenance therapy. Renal biopsy was performed before the initial induction therapy and after 12 months’ maintenance therapy. Results. Pathological findings at second biopsy were improved in eight of nine patients (89%). The findings of SLEDAI, urinalysis, and blood tests also showed improvement. CS doses could be tapered satisfactorily. Adverse events were observed in two patients. No patients treated with MMF experienced any disease flares during maintenance therapy. Conclusions. MMF as maintenance therapy might be useful in that not only the histological findings of lupus nephritis were improved, but also CS doses could be beneficially tapered. Nonetheless, this is a retrospective report of only nine cases and further prospective multicenter studies are necessary. © 2014 Japan College of Rheumatology.

Makino H.,Odawara City Hospital
Gan to kagaku ryoho. Cancer & chemotherapy | Year: 2013

The patient was a 71-year-old woman who was referred to our hospital with a diagnosis of gastric cancer. Computed tomography( CT) scans revealed a liver tumor, which we diagnosed as liver metastasis from the gastric cancer. A type 2 tumor was observed in the lesser curvature side of the gastric angle, and a huge tumor measuring 75 mm was seen in the lateral segment of the liver. A tumor thrombus from the metastatic lesion in the liver jutting out into the umbilical portion of the portal vein was observed. Measurement of tumor marker levels showed that the α-fetoprotein (AFP) level was slightly elevated at 20.7 ng/mL. Distal gastrectomy and resection of the left lobe of the liver were performed at surgery. The results of the pathological examination indicated a tub2, T3 (ss), N1, M1 (HEP), ly0, v2, stage IV gastric cancer with liver metastasis, and without AFP expression. The postoperative course was favorable, and the patient was treated in the outpatient clinic with postoperative adjuvant chemotherapy consisting of 80 mg of S-1. No adverse events were noted, and it was possible to complete 10 courses of chemotherapy. Because there was no evidence of recurrence, treatment was completed in 1 year and 2 months. No recurrence was observed until the third year after surgery. Consistent with a slight elevation in the tumor marker levels at 3 years and 6 months, recurrence was observed in the remnant liver. The patient died of her disease at 3 years and 10 months. Gastric cancers that give rise to portal vein tumor thrombosis are rare. Their outcome is generally poor, and early recurrence in the remnant liver is common. In the present case, R0 resection was possible because the liver metastasis was solitary and the tumor thrombosis was mild. To a certain extent, an improvement in the outcome was observed. However, the recurrence progressed rapidly, making it impossible to perform adequate treatment. More diligent examinations and continuation of long-term treatment might have been required to improve the patient's prognosis.

Isojima T.,University of Tokyo | Doi K.,University of Tokyo | Mitsui J.,University of Tokyo | Oda Y.,Ohta Nishinouchi Hospital | And 9 more authors.
Journal of Bone and Mineral Research | Year: 2014

Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin-folding cofactor E (TBCE) gene, by the absence of mental retardation. In this study, we recruited four unrelated Japanese patients with typical sporadic KCS2, and performed exome sequencing in three patients and their parents to elucidate the molecular basis of KCS2. The possible candidate genes were explored by a de novo mutation detection method. A single gene, FAM111A (NM-001142519.1), was shared among three families. An identical missense mutation, R569H, was heterozygously detected in all three patients but not in the unaffected family members. This mutation was also found in an additional unrelated patient. These findings are in accordance with those of a recent independent report by a Swiss group that KCS2 is caused by a de novo mutation of FAM111A, and R569H is a hot spot mutation for KCS2. Although the function of FAM111A is not known, this study would provide evidence that FAM111A is a key molecule for normal bone development, height gain, and parathyroid hormone development and/or regulation. © 2014 American Society for Bone and Mineral Research.

Makino H.,Odawara City Hospital
Gan to kagaku ryoho. Cancer & chemotherapy | Year: 2011

A 71-year-old man was referred to our hospital for further evaluation of hepatic dysfunction. A diagnostic workup revealed an intrahepatic bile duct cancer, and a right hepatic lobectomy was performed. Postoperative adjuvant chemotherapy with gemcitabine (1,000 mg/m 2, given for 3 weeks, followed by a 1 week rest) was begun. Because grade 3 anorexia developed, the dose of gemcitabine was decreased to 800 mg/m 2 from the third cycle of chemotherapy. Computed tomography showed nodal recurrence 6 months after surgery. One year after surgery, computed tomography revealed an extensive periaortic nodal recurrence, as well as recurrence in the remnant liver. Treatment was switched to S-1 (100 mg/ day, given for 3 weeks, followed by a 1 week rest). Grade 3 thrombocytopenia was developed during the tenth cycle of therapy. The treatment schedule was therefore changed to 3 weeks of therapy, followed by a 2 week rest. From the 36th cycle, the dose of S-1 was lowered to 80 mg/day (given for 2 weeks, followed by a 2 week rest). Nodal recurrence was resolved in 2 years after the start of treatment with S-1, and recurrence in the remnant liver nearly resolved in 4 years after starting the treatment, indicating a partial response. The carcinoembryonic antigen level fell to the normal range and the CA19-9 level remains at about 100 U/mL. Although the patient had grade 2 thrombocytopenia, he is now receiving the 43rd cycle of S-1 and remains alive for 5 years and 1 month after surgery. We believe that the continuation of chemotherapy while monitoring the patient's general condition led to an improved outcome.

Makise K.,Odawara City Hospital | Inagawa G.,Kanagawa Childrens Medical Center | Ka K.,Kanagawa Childrens Medical Center
Japanese Journal of Anesthesiology | Year: 2011

A 4-year-old girl with trifunctional protein deficiency was scheduled for gastrostomy. She had recurrent episodes of rhabdomyolysis triggered by fasting, infection, stress and uncertain causes. In the management of anesthesia, we avoided both propofol and inhalational anesthetics and anesthetized her with benzodiazepine and opioid combined with regional anesthesia to minimize the stress response. Her metabolism was kept stable throughout the intraoperative period. However, on the second postoperative day, she developed rhabdomyolysis and was treated with glucose containing infusion. This case provides instructive information that strict management is needed for patients with trifunctional protein deficiency in the perioperative period.

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