Nozu K.,Kobe University |
Iijima K.,Kobe University |
Kanda K.,Kobe University |
Nakanishi K.,Wakayama Medical University |
And 15 more authors.
Journal of Clinical Endocrinology and Metabolism | Year: 2010
Context: Our understanding of inherited salt-losing tubulopathies has improved with recent advances in molecular genetics. However, the terminology of Bartter syndrome and Gitelman syndrome does not always accurately reflect their pathophysiological basis or clinical presentation, and some patients are difficult to diagnose from their clinical presentations. Objective: In the present study,weconducted molecular analysisanddiuretic tests for patients with inherited salt-losing tubulopathies to clarify the pharmacological characteristics of these disorders. Patients: We detected mutations and subsequently conducted diuretic tests using furosemide and thiazide for 16 patients with salt-losing tubulopathies (two with SLC12A1; two with KCNJ1; nine with CLCNKB; and three with SLC12A3). Results: Patients with SLC12A1 mutations showed no response to furosemide, whereas those with SLC12A3 mutations showed no response to thiazide. However, patients with CLCNKB mutations showed no response to thiazide and a normal response to furosemide, and those with KCNJ1 mutations showed a good response to both diuretics. This study revealed the following characteristics of these disorders: 1) subjects with CLCNKB mutations showed one or more biochemical features of Gitelman syndrome (including hypomagnesemia, hypocalciuria,andfractional chloride excretion insensitivity to thiazide administration); and 2) subjects with KCNJ1 mutations appeared to show normal fractional chloride excretion sensitivity to furosemide and thiazide administration. Conclusions: These results indicate that these disorders are difficult to distinguish in some patients, even when using diuretic challenge. This clinical report provides important findings that can improve our understanding of inherited salt-losing tubulopathies and renal tubular physiology. Copyright © 2010 by The Endocrine Society. Source
Wada T.,Kanazawa University |
Kanegane H.,University of Toyama |
Ohta K.,Kanazawa Medical Center |
Katoh F.,Tokyo Womens Medical University |
And 9 more authors.
Cytokine | Year: 2014
X-linked lymphoproliferative syndrome (XLP) is a rare primary immunodeficiency characterized by increased vulnerability to Epstein-Barr virus infection. XLP type 1 is caused by mutations in SH2D1A, whereas X-linked inhibitor of apoptosis (XIAP) encoded by XIAP/. BIRC4 is mutated in XLP type 2. In XIAP deficiency, hemophagocytic lymphohistiocytosis (HLH) occurs more frequently and recurrence is common. However, the underlying mechanisms remain mostly unknown. We describe the characteristics of the cytokine profiles of serum samples from 10 XIAP-deficient patients. The concentration of interleukin (IL)-18 was strikingly elevated in the patients presented with HLH, and remained high after the recovery from HLH although levels of other pro-inflammatory cytokines approached the normal range. Longitudinal examination of two patients demonstrated marked exacerbation of IL-18 levels during every occasion of HLH. These findings may suggest the association between HLH susceptibility and high serum IL-18 levels in XIAP deficiency. © 2013 Elsevier Ltd. Source
Yao K.,Fukuoka University |
Doyama H.,Ishikawa Prefectural Central Hospital |
Gotoda T.,Tokyo Medical University |
Ishikawa H.,Kyoto Prefectural University of Medicine |
And 6 more authors.
Gastric Cancer | Year: 2014
Background: Curative treatment of patients with gastric cancer requires reliable detection of early gastric cancer. Magnifying endoscopy with narrow-band imaging (M-NBI) is useful for the accurate preoperative diagnosis of early gastric cancer. However, the role of M-NBI in screening endoscopy has not been established. The aims of this study were to determine the feasibility and limitations of M-NBI in screening endoscopy.Methods: We conducted a multicenter prospective uncontrolled trial of patients undergoing routine screening endoscopy patients. We determined the diagnostic accuracy, sensitivity and specificity of M-NBI according to the degree of certainty and need for biopsy, as assessed using the VS (vessel plus surface) classification system. We analyzed the endoscopic and histopathological characteristics of both false negative and false positive high confidence M-NBI diagnoses. We then developed a provisional diagnostic strategy based on the diagnostic performance and limitations identified in this study.Results: A total of 1097 patients were enrolled in the study. We analyzed 371 detected lesions (20 cancers and 351 non-cancers). The accuracy, sensitivity and specificity of high confidence M-NBI diagnoses were 98.1, 85.7 and 99.4 %, respectively. The false negative case was a pale mucosal lesion with tissue diagnosis of signet-ring cell carcinoma. Exclusion of pale mucosal lesions increased the accuracy, sensitivity and specificity of high confidence M-NBI diagnoses to 99.4, 100 and 99.4 %, respectively. We therefore propose a practical strategy targeting non-pale mucosal lesions.Conclusions: With a refined strategy considering its limitations, M-NBI can act as an “optical biopsy” in screening endoscopies. © 2014, The International Gastric Cancer Association and The Japanese Gastric Cancer Association. Source
Mano I.,Doshisha University |
Horii K.,Oyo Electrical Co |
Hagino H.,Tottori University |
Miki T.,Izumiotsu Municipal Hospital |
And 2 more authors.
Journal of Medical Ultrasonics | Year: 2015
Purpose: To verify the measurement of cortical bone thickness at the distal radius in vivo using an ultrasonic method. Methods: The method for estimating cortical bone thickness was derived from experiments with in vitro bovine specimens. Propagation time of echo waves and propagation time of slow waves were used for the estimation. The outside diameter of cortical bone and the cortical bone thickness at the distal 5.5 % site of radius were measured with the new ultrasonic bone measurement system, and the results were compared with X-ray pQCT clinical measurements. Results: There was a high positive correlation (r: 0.76) between the cortical bone thickness measured by the new ultrasonic system and the X-ray pQCT results. Conclusion: We will be able to measure not only cancellous bone density but also cortical bone thickness in vivo using ultrasonic waves (without X-ray) safely and repeatedly. © 2015, The Japan Society of Ultrasonics in Medicine. Source
Itoh T.,Izumiotsu Municipal Hospital
Japanese Journal of Chest Diseases | Year: 2013
A 41-year-old woman was referred to our hospital for further examination of pulmonary shadows during a lung cancer screening. Chest X-ray films revealed wandering infiltrations, and a bronchoalveolar lavage showed an increase in the number of lymphocytes and eosinophils. By careful history taking, she admitted she had taken Bofu-tsusho-san intermittently for three months before the lung cancer screening. Based on the above findings, we diagnosed this case as druginduced pneumonitis caused by Bofu-tsusho-san. The patient recovered after discontinuation of the drug without corticosteroid therapy. Source