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| 1 | Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update显示文摘Ornithine transcarbamylase(OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle.OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed over evolution. For animals with a urea cycle, defects in OTC can trigger hyperammonemic episodes that can lead to brain damage and death. This is the fifth mutation update for human OTC with previous updates reported in 1993, 1995, 2002, and 2006. In the2006 update, 341 mutations were reported. This current update contains 417 disease-causing mutations, and also is the first report of this series to incorporate information about natural variation of the OTC gene in the general population through examination of publicly available genomic data and examination of phenotype/genotype correlations from patients participating in the Urea Cycle Disorders Consortium Longitudinal Study and the first to evaluate the suitability of systematic computational approaches to predict severity of disease associated with different types of OTC mutations. | Ljubica Caldovic Iman Abdikarim Sahas Narain Mendel Tuchman Hiroki Morizono | 2015 | Journal of Genetics and Genomics2015，42，5： | 19 |
| 2 | Arterial steroid injection therapy can inhibit the progression of severe acute hepatic failure toward fulminant liver failure显示文摘AIM: To utilize transcatheter arterial steroid injection therapy (TASIT) via the hepatic artery to reduce hepatic macrophage activity in patients with severe acute hepatic failure.METHODS: Thirty-four patients with severe acute hepatic failure were admitted to our hospital between June 2002 to June 2006 providing for the possibility of liver transplantation (LT). Seventeen patients were treated using traditional liver supportive procedures, and the other 17 patients additionally underwent TASIT with 1000 mg methylprednisolone per day for 3 continuous days. RESULTS: Of the 17 patients who received TASIT, 13 were cured without any complications, 2 died, and 2 underwent LT. Of the 17 patients who did not receive TASIT, 4 were self-limiting, 7 died, and 6 underwent LT. Univariate logistic analysis revealed that ascites, serum albumin, prothrombin time, platelet count, and TASIT were significant variables for predicating the prognosis. Multivariate logistic regression analysis using stepwise variable selection showed that prothrombin time, platelet count, and TASIT were independent predictive factors. CONCLUSION: TASIT might effectively prevent the progression of severe acute hepatic failure to a fatal stage of fulminant liver failure. | Kazuhiro Kotoh Munechika Enjoji Makoto Nakamuta Tsuyoshi Yoshimoto Motoyuki Kohjima Shusuke Morizono Shinsaku Yamashita Yuki Horikawa Kengo Yoshimitsu Tsuyoshi Tajima Yoshiki Asayama Kousei Ishigami Masakazu Hirakawa | 2006 | World Journal of Gastroenterology2006，12，41： | 13 |
| 3 | Local recurrence is an important prognostic factor of hepatocellular carcinoma显示文摘AIM: To clarify the importance of complete treatment by PEIT.METHODS: A total of 140 previously untreated cases of HCC were enrolled in this study from 1988 to 2002. The inclusion criteria were: a solitary tumor less than 4 cm in diameter or multiple tumors, fewer than four in number and less than 3 cm in diameter, without extrahepatic metastasis or vessel invasion. As general principles for the treatment of HCC, the patients underwent transcatheter arterial chemoembolization (TACE) prior to PEIT. After the initial treatment of the patients,ultrasonography and computed tomography were performed, and measurement of serum levels of α-fetoprotein (AFP) was determined. When tumor recurrences were detected, PEIT and/or TACE were repeated whenever the hepatic functional reserve of the patient permitted. We then analyzed the variables that could influence prognosis, including tumor size and number, the serum levels of AFP, the parameters of hepatic function (albumin, bilirubin, ALT, hepaplastin test,platelet number, and indocyanine green retention at 15min [ICG-R15]), combined therapy with TACE, distant recurrence, and local recurrence.RESULTS: Univariate analysis identified the ICG test,serum levels of AFP and albumin, tumor size and number,and local recurrence, but not distant recurrence, as significant prognostic variables. In multivariate analysis using those five parameters, the ICG test, tumor size, tumor number,and local recurrence were identified as significant prognostic factors. In both univariate and multivariate analyses, the relative risk for the ICG test was the highest, followed by local recurrence.CONCLUSION: We found that local recurrence is an independent prognostic factor of HCC, indicating that achieving complete treatment for HCC on first treatment is important for improving the prognosis of patients with HCC. | Eiichirou Arimura Kazuhiro Kotoh Makoto Nakamuta Shusuke Morizono Munechika Enjoji Hajime Nawata | 2005 | World Journal of Gastroenterology2005，11，36： | 7 |
| 4 | Scattered and rapid intrahepatic recurrences after radio frequency ablation for hepatocellular carcinoma显示文摘AIM: To evaluate a series of patients with hepatocellular carcinoma (HCC) treated with several different protocols and devices.METHODS: We treated 138 patients [chronic hepatitis/liver cirrhosis (Child-Pugh A/B/C), 3/135 (107/25/3)]with two different devices and protocols: cool-tip needle [initial ablation at 60 W (standard method) (n=37)or at 40 W (modified method) (n = 28)] or; ablation with a LeVeen needle using a standard single-step, full expansion (single-step) method (n = 39) or a multi-step,incremental expansion (multi-step) method.RESULTS: Eleven patients experienced rapid and scattered recurrences 1 to 7 mo after the ablation. Nine patients were treated by the cool-tip original protocol (60 W) (9/37=24%) and the other two by the LeVeen single-step method (2/39=5%). The location of the recurrence was surrounding and limited to the site of ablation segment in three cases, and spread over one lobule or both lobules in the other eight cases. There was no recurrence in the patients treated with the modified cool-tip modified method (40 W) or the LeVeen multi-step method.CONCLUSION: There is a risk of rapid and scattered recurrence after RFA, especially when the standard cooltip procedure is used. Because such recurrence would worsen the prognosis, we recommend that modified protocols for the cool-tip and LeVeen needle methods should be used in clinical practice. | Kazuhiro Kotoh Munechika Enjoji Eiichirou Arimura Shusuke Morizono Motoyuki Kohjima Hironori Sakai Makoto Nakamuta | 2005 | World Journal of Gastroenterology2005，11，43： | 7 |
| 5 | Baseline characterization of patients aged 70 years and above with hepatocellular carcinoma显示文摘AIM: To characterize the baseline profiles of patients aged 70 years and above with hepatocellular carcinoma (HCC).METHODS: A series of 127 consecutive patients with HCC were enrolled between 2000 and 2004, and none of them had been diagnosed as having HCC previously. Baseline profiles, including parameters of hepatic function such as serum transaminase and prothrombin time [PT (% activity)] were compared between patients aged ≥70 and <70 years.RESULTS: Patients ≥70 years old showed significantly lower levels of aspartate aminotransferase (P = 0.04)and alanine aminotransferase (P = 0.01), and significantly higher PTs (P= 0.04) and platelet counts (P = 0.02).Concomitantly, among ≥70-year-old patients, HCC was more common in non-cirrhotics, whereas among patients <70 years old, HCC was more common in cirrhotics. There was no significant difference between the groups in the number or size of tumors.CONCLUSION: Older HCC patients showed less inflammation and better preservation of hepatic function, indicating that not only cirrhotic patients but also noncirrhotic patients should be considered as a high-risk group among the elderly. | Makoto Nakamuta Shusuke Morizono Motoyuki Kohjima Kazuhiro Kotoh Munechika Enjoji | 2005 | World Journal of Gastroenterology2005，11，47： | 6 |
| 6 | Mammalian N-acetylglutamate synthase显示文摘 | Morizono H Caldovic L Shi D | 2004 | Mol Genet Metab2004，811，： | 1 |
| 7 | Transoral atlantoaxial anterior decompression and fusion 显示文摘 | Sakou T Morizono Y Morimoto N | 1984 | Clin Orthop Relat Res1984，，187： | 1 |
| 8 | Comparison of multi-lineage cells from human adipose tissue and bone marrow显示文摘 | De Ugarte D Morizono K Elbarbary A | 2000 | Cells Tissues Organs2000，174，： | 1 |
| 9 | Comparison of multi-lineage cells from human adipose tissue and bone marrow显示文摘 | De Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissues Organs2003，174，3： | 1 |
| 10 | Comparison of multi-lineage cells from human adipose tissue and bone marrow显示文摘 | De Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissues Organs2003，174，3： | 1 |
| 11 | Comparison of multi-lineage cells from human adipose tissue and bone marrow 显示文摘 | De Ugarte DA Morizono K | 2003 | Cells Tissue Organs2003，174，： | 1 |
| 12 | Comparision of multi-lineage cells from human adipose tissue and bone marrow显示文摘 | De Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissues Organs2003，174，3： | 1 |
| 13 | Comparison of multilineage cells from human adipose tissue and bone marrow显示文摘 | De Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissues Organs2003，174，3： | 1 |
| 14 | Mutations andpolymorphisms in the human ornithine transcarbamylase gene显示文摘 | Tuchman M Jaleel N Morizono H | 2002 | Hum Mutat2002，19，2： | 1 |
| 15 | Comparison of multi-lineage cells from human adipose tissue and bone marrow显示文摘 | De UgarteDA Morizono K Elbarbary A | | 0，，03： | 1 |
| 16 | Microstructure dependence of compactibility of rapidly solidified Ti - rich TiM alloy powders produced by plasma rotating electrode process显示文摘 | Nishida M Morizono Y Kai T | 1997 | Materials Transactions1997，38，4： | 1 |
| 17 | Compari- son of multilineage cells fromadipose tissue and bone mar- row显示文摘 | De Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissue Organs2003，174，3： | 1 |
| 18 | Superplasticity - like behavior of rapidly solidified Ti - rich TiA1 powders and its application to in - situ sintering bonding 显示文摘 | Morizono Y Kumagae R Nishida M | 2003 | Maerials Transactions2003，44，4： | 1 |
| 19 | Comparison of multi-lineage cells from human adipose tissue and bone marrow显示文摘 | de Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissues Organs2003，174，3： | 1 |
| 20 | Comparison of multi lineage cells from human adipose tissue and bone marrow显示文摘 | De Ugarte DA Morizono K Elbarbary A | 2003 | Cells Tissues Organs2003，174，3： | 1 |
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