scholarly journals A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome

2013 ◽  
Vol 22 (4) ◽  
pp. 83-86 ◽  
Author(s):  
Sayaka Yamamoto ◽  
Koji Okuhara ◽  
Hidefumi Tonoki ◽  
Susumu Iizuka ◽  
Noriko Nihei ◽  
...  
2001 ◽  
Vol 5 (2) ◽  
pp. 135-139 ◽  
Author(s):  
Yoshinori Aragane ◽  
Akira Kawada ◽  
Akira Maeda ◽  
Rieko Isogai ◽  
Noritaka Isogai ◽  
...  

Background: Localized scleroderma is known to be resistant to therapies. Recently, it has been reported that bath PUVA photochemotherapy is effective for treating this dermatosis. Objectives: Although according in earlier reports mainly white populations have been treated successfully with bath PUVA therapy, there is little knowledge of whether it is effective in treating colored populations. We treated a 64-year-old Japanese woman suffering from disseminated scleroderma with bath PUVA photochemotherapy to see its effects. Conclusion: Although rather high cumulative UVA doses were required for this patient compared with those needed in earlier reports, no adverse effects were observed. The lesions were markedly improved, suggesting that this therapeutic modality is well-tolerated and useful for colored patients such as the Japanese. Furthermore, it turns out that the thermographical assessment is useful to estimate clinical improvement of this sclerosing skin disorder.


2017 ◽  
Vol 88 (11) ◽  
pp. 292-297 ◽  
Author(s):  
Yusuke Ito ◽  
Akinari Sekine ◽  
Daisuke Takada ◽  
Junko Yabuuchi ◽  
Yuta Kogure ◽  
...  

2016 ◽  
Vol 7 (1) ◽  
pp. 148-153 ◽  
Author(s):  
Akiko Oka ◽  
Kengo Ikesugi ◽  
Mineo Kondo

Purpose: To report a rare case of idiopathic intracranial hypertension (IIH) in a prepubertal pediatric patient. Case Report: The patient was an 11-year-old Japanese boy. Initially, an ophthalmologist found severe papilledema, and the patient was diagnosed with IIH. He was unresponsive to conservative therapy, and a ventriculoperitoneal shunt was inserted in the Neurosurgery Department because the visual impairment was severe. Twelve months after the shunt, the improvement in vision was limited due to optic disc atrophy. Conclusion: Ophthalmologists need to be more aware of II, especially in cases with severe papilledema that can lead to permanent reduction of vision.


1996 ◽  
Vol 19 (4) ◽  
pp. 236-241 ◽  
Author(s):  
M. Yokoyama ◽  
Kyoko Takeda ◽  
K. Iyota ◽  
T. Okabayashi ◽  
K. Hashimoto

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Wataru Isono ◽  
Masanori Maruyama

Abstract Background We present a minimal skin wound abdominal hysterectomy for patients with leiomyomas and describe the characteristics of this technique. The skin wound was made as small as possible, with a maximum length of 6 cm. Methods In addition to introducing minimal skin wound abdominal hysterectomy, we retrospectively analyzed the medical records of 82 patients treated with minimal skin wound abdominal hysterectomy exclusively by two experts at Maruyama Memorial General Hospital between January 2013 and December 2016. Relationships between the leiomyoma characteristics and the difficulty of this operation, as estimated by operation time and blood loss, were statistically investigated. Results First, we introduce a case in which we performed minimal skin wound abdominal hysterectomy on a 46-year-old Japanese patient with multiple leiomyomas (maximum 8 cm in diameter). Then, we assessed the impacts of the leiomyoma characteristics on the difficulty of this operation. On multivariate analysis, the number of leiomyomas significantly affected operation difficulty. Other characteristics of the target leiomyoma showed no effect. Additionally, higher body mass index also made the operation more difficult. Conclusions Although multiple leiomyomas can make this procedure difficult, minimal skin wound abdominal hysterectomy is safe and effective for use in many cases.


2018 ◽  
Vol 2018 ◽  
pp. 1-6
Author(s):  
Masahiro Takeuchi ◽  
Yoshitaka Sakamoto ◽  
Hirotsugu Noguchi ◽  
Sohsuke Yamada ◽  
Keiji Hirata

Tubulocystic carcinoma of the bile duct is extremely rare and has not been reported in the literature. We reported a case of cystic neoplasm of the liver with distinct histopathological features that could not be clearly classified as of either mucinous or intraductal papillary neoplasm. A 68-year-old Japanese patient had a multicystic biliary tumor within the liver. This tumor was detected on follow-up of polymyalgia rheumatica. The exophytic, multicystic, 35 × 50 mm mass was composed of complex tubulocystic structures. We initially suspected cystadenocarcinoma of the liver and performed radical operation. However, pathology ultimately showed it to be very rare tubulocystic carcinoma that derived from the bile duct. We reviewed the literature and describe the process of our differential diagnosis.


Gut ◽  
2010 ◽  
Vol 60 (8) ◽  
pp. 1059-1059 ◽  
Author(s):  
N. Hosoe ◽  
R. Sakakibara ◽  
M. Yoshida ◽  
T. Wakabayashi ◽  
H. Kikuchi ◽  
...  

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