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181.
182.
Masayo Kagami Kenji Kurosawa Osamu Miyazaki Fumitoshi Ishino Kentaro Matsuoka Tsutomu Ogata 《European journal of human genetics : EJHG》2015,23(11):1488-1498
Paternal uniparental disomy 14 (UPD(14)pat) and epimutations and microdeletions affecting the maternally derived 14q32.2 imprinted region lead to a unique constellation of clinical features such as facial abnormalities, small bell-shaped thorax with a coat-hanger appearance of the ribs, abdominal wall defects, placentomegaly, and polyhydramnios. In this study, we performed comprehensive clinical studies in patients with UPD(14)pat (n=23), epimutations (n=5), and microdeletions (n=6), and revealed several notable findings. First, a unique facial appearance with full cheeks and a protruding philtrum and distinctive chest roentgenograms with increased coat-hanger angles to the ribs constituted the pathognomonic features from infancy through childhood. Second, birth size was well preserved, with a median birth length of ±0 SD (range, −1.7 to +3.0 SD) and a median birth weight of +2.3 SD (range, +0.1 to +8.8 SD). Third, developmental delay and/or intellectual disability was invariably present, with a median developmental/intellectual quotient of 55 (range, 29–70). Fourth, hepatoblastoma was identified in three infantile patients (8.8%), and histological examination in two patients showed a poorly differentiated embryonal hepatoblastoma with focal macrotrabecular lesions and well-differentiated hepatoblastoma, respectively. These findings suggest the necessity of an adequate support for developmental delay and periodical screening for hepatoblastoma in the affected patients, and some phenotypic overlap between UPD(14)pat and related conditions and Beckwith–Wiedemann syndrome. On the basis of our previous and present studies that have made a significant contribution to the clarification of underlying (epi)genetic factors and the definition of clinical findings, we propose the name ‘Kagami–Ogata syndrome'' for UPD(14)pat and related conditions. 相似文献
183.
184.
Koji Fukushima Yoshiyuki Ueno Hirokazu Kanegane Yoko Yamagiwa Jun Inoue Osamu Kido Futoshi Nagasaki Takayuki Kogure Eiji Kakazu Yu Nakagome Yasunori Matsuda Noriyuki Obara Osamu Kimura Tooru Shimosegawa 《Hepatology research》2008,38(4):415-420
Severe hepatitis with an indistinct etiology manifested in a 16-year-old boy who had no particular history. The histological features of the liver and clinical course of the patient were similar to those of patients with autoimmune hepatitis characterized by interface hepatitis and severe lobular inflammation of the liver and recurrent exacerbations of hepatitis. We administered intravenous glycyrrhizin preparation daily or three times a week combined with the oral administration of ursodeoxycholic acid daily throughout the term after the initial onset of disease for the control of disease activity. The normalization of the concentration of alanine aminotransferase in serum was achieved in response to the therapy during the course. The serum concentration of immunoglobulins of the patient gradually decreased from the onset of the disease to an unacceptable level without globulin preparation during the following period of 17 months. Immunological tests revealed impairment of immunoglobulin production bythe B cell population of the patient, which led to the diagnosis of the patient as common variable immunodeficiency (CVID). The patient, with improved liver histology after 27 months from the onset of disease, benefited from the current combination therapy without severe infection through the avoidance of overimmunosuppression. CVID is defined as a heterogeneous syndrome characterized by various degrees of hypogammaglobulinemia without any specific predisposing causes, frequently associated with autoimmunity. Diagnostic criteria and therapeutic options of persistent hepatitis with CVID are to be established, as discussed in the current report. 相似文献
185.
Takeshi Asano Hidehiko Narazaki Kiyohiko Kaizu Shouhei Matsukawa Yuki Takema‐Tochikubo Shuichi Fujii Nobuyuki Saitoh Kunihiko Mashiko Osamu Fujino 《Pediatrics international》2015,57(5):988-990
Although thrombotic thrombocytopenic purpura (TTP) is rare, early diagnosis and treatment are important for decreasing the mortality rate. Acquired vitamin B12 deficiency is frequently overlooked because of its rarity in developed countries, particularly in children and adolescents. The hematological changes in vitamin B12 deficiency present as megaloblastic anemia, increased lactate dehydrogenase, vasoconstriction, increased platelet aggregation, and abnormal activation of the coagulation followed by microangiopathy as well as neutropenia and thrombocytopenia. We report herein the case of a 15‐year‐old girl who had been neglected, which might have caused pseudo‐TTP through malnutrition, particularly vitamin B12 deficiency. When we encounter cases of TTP in children, clinicians must be aware of the possibility of malnutrition, particularly with vitamin B12 deficiency, even in developed countries, and investigate the cause of malnutrition including neglect. 相似文献
186.
Hajime Uchida Akinari Fukuda Matsunami Masatoshi Kengo Sasaki Takanobu Shigeta Hiroyuki Kanazawa Atsuko Nakazawa Osamu Miyazaki Shunsuke Nosaka Seisuke Sakamoto Mureo Kasahara 《Pediatric transplantation》2015,19(6):E142-E145
The management of LSRS is a crucial problem to ensure a sufficient PV flow during pediatric LT. Although several techniques have been indicated to solve this problem, a more appropriate approach to LSRS is still needed in pediatric LT. We herein present a modified surgical approach to the ligation of LSRS via the left side of the IVC for a nine‐month‐old boy with severe portal hypertension and a history of Kasai portoenterostomy. LSRS was identified and exposed through the left side of the IVC and the dorsal surface of the pancreas from the superior side of the body of the pancreas. The post‐operative course was uneventful with an excellent PV flow. The central approach for the ligation of LSRS is worth considering as an alternative procedure for a patient with collateral vessels and a history of multiple laparotomies. 相似文献
187.
188.
Flow cytometric examination of p53 protein in primary tumors and metastases to the liver and lymph nodes of colorectal cancer 总被引:2,自引:0,他引:2
Dr. Osamu Kimura M.D. Kenji Sugamura M.D. Tosihisa Kijima M.D. Masato Makino M.D. Hiroyuki Shirai M.D. Shigeru Tatebe M.D. Hisao Ito M.D. Nobuaki Kaibara M.D. 《Diseases of the colon and rectum》1996,39(12):1428-1433
PURPOSE AND METHODS: To confirm prognostic significance of overexpression of p53 in cases of colorectal cancer, expression of p53 protein was examined by flow cytometry in 113 cases of colorectal cancer and its metastasis to the liver and lymph nodes. RESULTS: Overexpression of p53 was found in 44 (39 percent) of the 113 primary tumors. There were no significant correlations among the level of p53 protein in the primary tumor, clinicopathologic features, and prognosis of colorectal cancer. Overexpression of p53 protein was detected in 72 percent (18/25) of liver metastases and in 40 percent (10/25) of lymph node métastases. Frequency of samples that were positive for p53 was significantly higher for liver metastases than for primary tumors and lymph node metastases (P<0.01). By comparing overexpression of p53 in primary tumors with that in corresponding secondary tumors, a decrease of more than 5 percent in the fluorescence index, compared with primary tumor, was not found in liver metastasis but was found in 20 percent of lymph node metastases. Incidence of cases with lower level expression of p53, compared with primary tumor, was significantly higher in lymph node metastases (32 percent) than in liver metastases (8 percent;P<0.05). CONCLUSIONS: From these results, it seems possible that overexpression of p53 may not be a good prognostic indicator of colorectal cancer and may be influenced by environments of the tumor.Presented at the meeting of the Japanese Gastroenterological Surgery, Fukui City, Japan, July 20 and 21, 1995. 相似文献
189.
Yukihiro Tsuchiya Fumitake Ishihara Goro Kajiyama Saburo Nakazawa Masao Otho Hiroshi Tanimura Yoshikazu Akura Minoru Harada Masabumi Hihara Yukio Kawai Yukihiro Kono Hajime Koshiyama Masahiro Morita Michiko Nakajima Kyoichiro Nishina Hiroshi Sagawa Terufumi Sakai Mitsuo Shoji Kayoko Sone Yoshihiro Sugimoto Keiichi Sugiyama Osamu Takahara Tomoo Takamura Susumu Tazuma Hideki Wakamatsu 《Journal of gastroenterology》1995,30(6):768-774
The use of bile acid dissolution therapy in extracorporeal shockwave lithotripsy of gallstones, remains controversial. Our
study examined whether chemolitholysis after sufficient disintegration enhanced stone clearance within 6 months of the first
lithotripsy. A total of 143 patients who developed one to three radiolucent stones measuring⪯30 mm in diameter were randomly
separated into two treatment groups: 47% were given lithotripsy alone, and 53% lithotripsy plus ursodeoxycholic acid (UDCA).
Repeated piezoelectric lithotripsy was given, with no limit on the total number of treatment sessions, to pulverize or disintegrate
stones into fragments<3 mm. Stones were disintegrated in 97% of all patients, and the fragments were ⪯2 mm in 50% of these
patients. According to an intention-to-treat analysis, 52% in the lithotripsy alone group and 58% in the UDCA group were free
of stones 6 months after the first lithotripsy (P=0.61). Of the patients with fragments⪯2 mm, 71% in the former and 86% in the latter group were free of stones 6 months after
the first lithotripsy, with no significant difference between the groups. Biliary pain occurred in 25% of all patients, including
3 with acute cholecystitis. We concluded that the sufficient disintegration of gallstones achieved with repeated lithotripsy
enhanced the early clearance of fragments, regardless of whether chemolitholysis was employed. 相似文献
190.
Shinobu Osanai Toru Takahashi Hiroyuki Enomoto Nobuyuki Satoh Osamu Yahara Yuji Akiba Satoru Fujiuchi Hitoshi Nakano Yoshinobu Ohsaki and Kenjiro Kikuchi 《Respirology (Carlton, Vic.)》2001,6(2):163-166
We describe a case of a 21-year-old man with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) who presented with hypoxic ventilatory depression. He had chronic hypoventilation, which was not explained by weakness of respiratory muscles. His hypercapnic ventilatory response was not impaired. In contrast, hypoxic ventilatory depression was observed in the isocapnic progressive hypoxic response test. After exposure to hypoxic conditions, his respiratory frequency decreased and tidal volume was unchanged. The hypoxic ventilatory depression was partially blocked by pretreatment with aminophylline. In conclusion, we need to be careful with patients with MELAS who are hypoxaemic because a vicious circle of hypoxia and hypoventilation can occur. 相似文献