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排序方式: 共有2617条查询结果,搜索用时 15 毫秒
91.
Hiroki Sato Mitsugu Uematsu Wakaba Endo Tojo Nakayama Tomoko Kobayashi Naomi Hino-Fukuyo Osamu Sakamoto Haruo Shintaku Shigeo Kure 《Brain & development》2014
Autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH) deficiency is an inborn error of tetrahydrobiopterin (BH4) synthesis from GTP. GTPCH deficiency causes severe reduction of BH4, resulting in hyperphenylalaninemia (HPA) and decreased dopamine and serotonin synthesis. Without treatment, a patient with GTPCH deficiency develops complex neurological dysfunctions, including dystonia and developmental delays. The first Japanese patient with GTPCH deficiency was discovered by HPA during asymptomatic newborn screening. The phenylalanine level at the age of 5 days was 1273 μmol/L (cutoff value, 180.0 μmol/L). The high serum phenylalanine level was decreased to normal after adequate BH4 oral supplementation. Serum and urinary pteridine examination revealed very low levels of neopterin and biopterin. Sequence analysis of GCH1 revealed compound heterozygous point mutations, including a novel point mutation (p.R235W). Replacement therapy with BH4 and L-dopa/carbidopa were started at the age of 1 month, and 5-hydroxytryptophan (5-HTP) was started at the age of 5 months. At 10 months of age, the patient showed slight dystonia but no obvious developmental delay. Cerebrospinal fluid should be examined to determine the appropriate dosage of supplement drugs. In conclusion, it is important to control the serum phenylalanine level and perform early replacement of neurotransmitters to prevent neurological dysfunction. 相似文献
92.
Dr. Manabu Yamamura M.D. Masaharu Nishi M.D. Haruo Furubayashi M.D. Koshiro Hioki M.D. Masakatsu Yamamoto M.D. 《Diseases of the colon and rectum》1985,28(5):347-352
A case of generalized peritonitis, secondary to a perforation of the rectosigmoid colon during barium-enema roentgenography,
is presented. The patient required immediate surgical intervention with the prime importance of the treatment being removal
of as much of the contaminating materials as possible. This was done successfully with irrigation and wiping, using urokinase
solution. Peritoneal lavage with urokinase solution was also carried out in the early postoperative period. Fluid replacement
with careful monitoring of fluid and electrolyte balance is essential before, during, and after the surgical procedure. Adequate
antibiotic therapy and careful respiratory and nutritional support are also important. 相似文献
93.
Shigeru Imai Shouichi Uchiyama Toshiki Suzuki Atsushi Arita Kazuaki Yoshida Hidebumi Kodama Takaya Sato Koho Akimaru Tetsuo Shibuya Haruo Kameda 《Journal of gastroenterology》1995,30(4):547-550
A very rare case of adenomyoma of the common hepatic duct is described. A 54-year-old woman was admitted with impending obstructive jaundice secondary to adenomyoma of the common hepatic duct. Our impression, formulated from her clinical presentation, endoscopic investigations, and biochemical and radiological findings, was a cancer of the proximal common hepatic duct. The patient was treated successfully by combination surgical resection and hepaticojejunostomy. Despite our obtaining an intraoperative frozen section, final histological examination was required to confirm the diagnosis. The patient remains well 16 months postoperatively. A survey of the world literature revealed that this is the second report of adenomyoma occurring in the common hepatic duct. 相似文献
94.
John K. Vyden Koichi Nagasawa Babeth Rabinowitz William W. Parmley Haruo Tomoda Eliot Corday H.J.C. Swan 《The American journal of cardiology》1974,34(6):677-686
Methylprednisolone sodium succinate, 50 mg/kg body weight, was given as an intravenous bolus injection to 15 dogs with acute myocardial infarction and the results were compared with data in control animals. Methylprednisolone was thought to improve the critical oxygen balance of the infarcted heart by two mechanisms: (1) by diminishing heart rate, afterload and preload in the initial 15 minutes after its administration and thereby decreasing the oxygen need of the heart, and (2) by increasing coronary arterial blood flow. Both mechanisms were believed to contribute to the increase in cardiac output, efficiency and ventricular performance. This improvement in performance was presumably not due to a positive inotropic effect, since studies in isolated heart muscle showed no effect of methylprednisolone on contractility. Regional circulations other than the coronary circulation seemed to be little affected by administration of methylprednisolone except for blood pressure-related increases in superior mesenteric and femoral arterial blood flow. 相似文献
95.
Delayed Removal of N-Terminal Methionine from Nascent Globin Chains in Sickle-Cell Anemia Reticulocytes 下载免费PDF全文
Haruo Suzuki Harvey A. Itano 《Proceedings of the National Academy of Sciences of the United States of America》1973,70(7):2059-2063
Synthetic αT1 and βT1, the N-terminal tryptic peptides of α-chain and β-chain of hemoglobin, and MetαT1 and MetβT1, peptides in which N-terminal methionyl residues are peptide-bonded to αT1 and βT1, were prepared by the solid-state method of Merrifield. These synthetic peptides were used to establish conditions for chromatographic purification and analysis. When tryptic digests of nascent globin chains from rabbit and sickle-cell anemia reticulocytes incubated with 35S- and 3H-labeled amino acids were analyzed, radioactivity not present in tryptic digests of labeled hemoglobin appeared at the elution positions of MetαT1 and MetβT1. The fraction of nascent chains with N-terminal methionine was higher in sickle-cell anemia reticulocytes than in rabbit reticulocytes. If rate of peptide-chain elongation in polysomes is uniform, nascent human chains must attain a greater length before removal of the initial methionyl residue. Length of nascent chain at time of removal was calculated from two independent sets of data, one obtained from [35S]methionine incorporation into MetαT1, MetβT1, αT5, and βT5, and the other obtained from [3H]lysine and [3H]valine incorporation into MetβT1 and βT1. 相似文献
96.
97.
Hanawa H Ma Y Mikolajczak SA Charles ML Yoshida T Yoshida R Strathdee CA Litchfield DW Ochi A 《Blood》2002,99(6):2138-2145
We have characterized a splice variant (isoform) of the human CD28 T cell costimulatory receptor. The nucleotide sequence of this CD28 isoform was identical to that of CD28 in the signal peptide, the transmembrane domain, and the cytoplasmic tail, but it was missing a large segment of the extracellular ligand-binding domain, which is encoded by the second exon. This isoform (CD28i), whose message level exceeded 25% of CD28, was a transmembrane homodimer. CD28i was found noncovalently associated with CD28 and was tyrosine-phosphorylated/PI3-kinase-complexed following the crosslinking of CD28, and the CD28 costimulatory signal was enhanced in T cells expressing CD28i. These data demonstrate that CD28i, via noncovalent association with CD28, plays a role as a costimulatory signal amplifier in human T cells. 相似文献
98.
99.
Manabu Komori Yuka Morita Tetsuya Tono Keiji Matsuda Yutaka Yamamoto Masafumi Sakagami Naohito Hato Hiromi Kojima Haruo Takahashi 《Auris, nasus, larynx》2021,48(4):555-564
ObjectiveThis study was aimed to determine the characteristics of middle ear cholesteatoma and to investigate short-term outcomes regarding the rates of residual and recurrent cholesteatoma and the postoperative hearing results in Japan, via a nationwide survey using staging and classification criteria for middle ear cholesteatoma, as proposed by the Japan Otological Society (JOS).MethodsThe first-round survey was conducted in 2016. The target was patients with middle ear cholesteatoma who were surgically treated in Japan between January and December 2015. Medical information on the patients was anonymized. The questionnaire entries were age, sex, cholesteatoma classification and stage, preoperative hearing level, mastoid development, status of the stapes, and surgical method. There were a total of 1,787 registered patients from 74 facilities from all over Japan. The second survey was conducted in January 2018 and received 1,456 responses from 49 facilities in Japan. Of the 1,456 cases, 1,060 were conducted in the postoperative hearing survey and 1,084 in the residual recurrence survey.ResultsThe most common cholesteatoma type was pars flaccida cholesteatoma (63.3%), followed by pars tensa cholesteatoma (13.0%), congenital cholesteatoma (12.9%), and cholesteatoma secondary to chronic tensa perforation (5.6%). Cholesteatoma of uncertain origin accounted for 5.0% (90 cases). Stage II was predominant in pars flaccida and pars tensa cholesteatoma, which frequently involves the mastoid, whereas about half of cases of cholesteatoma secondary to chronic tensa perforation and congenital cholesteatoma were classified as stage I. One hundred fifty-two of 1,084 cases (14.0%) had recurrent cholesteatoma, residual cholesteatoma, or both following first surgeries. The postoperative rates of hearing success rate was 63.3%.ConclusionWe were able to clarify not only the current epidemiological status of middle ear cholesteatoma but also the current trends of cholesteatoma surgery in Japan. The development of a staging system by the JOS Committee serving an epidemiological database for international or time-dependent comparison. It is possible to use this staging system with reasonable reliability. 相似文献
100.
Akinori Kashio Haruo Takahashi Kazunori Nishizaki Akira Hara Tatsuya Yamasoba Hiroshi Moriyama 《Auris, nasus, larynx》2021,48(4):622-629
ObjectiveTo conduct a longitudinal national survey of cochlear implantation (CI) in Japan from 1985 through 2017.MethodsA retrospective analysis of adult and pediatric CI cases from 1985 to 2017 using the Oto-Rhino-Laryngological Society of Japan CI registration database was conducted. Surgical statistics were obtained, including number of surgeries, age, implanted side, facilities, and preoperative threshold levels for CI.ResultsSince 1985, more than 11,100 CI surgeries have been conducted in Japan. The number exceeded 500 in 2005 and 1,000 in 2015. Since 2007, pediatric cases consistently surpassed adult cases until 2016. More facilities meet criteria for conducting CI as determined by Ministry of Health, Labor and Welfare and have now reached more than 100. Adult patients over 70 years old have become proportionally higher. Age at implantation steadily reduced in accordance with modifications of Japanese CI guidelines for children but is still not comparable to that in other developed countries. Although the number of CI surgeries for patients with moderate to severe hearing loss increased in the past ten years, the proportion was small.ConclusionsThe CI database in Japan is quite unique in that it documents almost all the CI surgeries in Japan, allowing us to summarize the present situation as follows: fewer CI surgeries occur than are necessary, and children receiving implants are older than those in other developed countries. Continuous improvement of CI awareness is needed in Japan. 相似文献