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991.
Satoshi Akamine Yoshito Ishizaki Yasunari Sakai Hiroyuki Torisu Ryoko Fukai Noriko Miyake Kazuhiro Ohkubo Hiroshi Koga Masafumi Sanefuji Ayumi Sakata Masahiko Kimura Seiji Yamaguchi Osamu Sakamoto Toshiro Hara Hirotomo Saitsu Naomichi Matsumoto Shouichi Ohga 《European journal of medical genetics》2018,61(8):451-454
Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. Because this disorder predominantly affects females, the full clinical spectrum of male patients remains elusive. We herein report a 16-year-old boy, who suffered from intractable seizures 20 days after birth. Serial electroencephalograms detected recurrent focal epileptiform discharges from age 4 months, which evolved to hypsarrhythmia later in infancy. Mass-spectrometric analyses revealed increase in urinary excretion of methylmalonic acid without perturbed concentrations of propionic acid, homocystein and methionine. Whole-exome sequencing identified a de novo, truncating mutation in CDKL5 (NM_003159.2:c.419dupA, p.Asn140Lysfs*8). Targeted sequencing excluded concomitant mutations in methylmalonic academia-associated genes. No methylmalonic acidemia has been reported in children with CDKL5 disorder. Extensive analyses on organic acid metabolism for males with CDKL5 mutations will gain more insight into their biochemical profiles in infancy. 相似文献
992.
Takashi Shigematsu Fumio Matsumoto Takeo Imai Iwao Sakurai Kohya Shiba Yoshindo Kawaguchi Osamu Sakai 《Journal of infection and chemotherapy》1995,1(2):116-121
Minocycline has been thought to induce “black thyroid”, a condition marked by discoloration due to brown deposits. However,
its effect on thyroid function in humans is still obscure. We conducted a prospective study of thyroid hormone levels in 17
patients who were administered 200 mg minocycline daily for 10 days. We found that minocycline significantly reduced the serum
total thyroxine level (8.43±0.61 to 7.09±0.45 μg/dl, mean ± SEM;P<0.01), and free thyroxine level (1.12±0.10 to 1.01±0.08 ng/dl, mean ± SEM;P<0.01). There was also a slight, but insignificant, elevation of thyroid stimulating hormone (TSH) in patients treated with
minocycline. Similar suppression of thyroxine and free thyroxine was not observed in control patients treated with β-lactam
and/or aminoglycoside antibiotics. Risk factors for the reduction in these thyroxine levels included age and a high serum
baseline level of free thyroxine. We found a significant correlation between the free baseline thyroxine level and a reduction
in free thyroxine after minocycline administration (Y=0.420X−0.377, r=0.597;P<0.01). Despite the observed alterations, the serum levels of all thyroid hormones after minocycline therapy were still within
the normal range. This antibiotic does not appear to induce clinical hypothyroidism, yet given the results of this study,
we would like to recommend pituitary-thyroid axis monitoring during the use of this antibiotic. 相似文献
993.
994.
Terazawa Takeshi Nishimura Takanori Mitani Tomohiro Ichii Osamu Ikeda Teppei Kosenda Keigo Tatsumi Eisuke Nakayama Yasuhide 《Journal of artificial organs》2018,21(3):387-391
Journal of Artificial Organs - A type-C mold based on in-body tissue architecture was previously developed for preparing small-diameter biotube vascular grafts with a 2-mm diameter and... 相似文献
995.
Mimura H Ikemura T Kotera O Sawada M Tashiro S Fuse E Ueno K Manabe H Ohshima E Karasawa A Miyaji H 《The Journal of pharmacology and experimental therapeutics》2005,314(1):244-251
Prostaglandin (PG) D2, a major cyclooxygenase metabolite generated from immunologically stimulated mast cells, is known to induce activation and chemotaxis in eosinophils, basophils, and T helper 2 (Th2) lymphocytes via a newly identified PGD2 receptor, chemoattractant receptor-homologous molecule expressed on Th2 cells (CRTH2). CRTH2 is hypothesized to play an important role in the outcome of allergic responses. However, the absence of selective CRTH2 antagonists has prevented the elucidation of the role of CRTH2 in pathogenesis of allergic diseases. We now report compounds discovered as selective CRTH2 antagonists, (2R*,4S*)-N-(1-benzoyl-2-methyl-1,2,3,4-tetrahydroquinolin-4-yl)-N-phenylisobutyramide (K117) and (2R*,4S*)-N-(1-benzoyl-2-methyl-1,2,3,4-tetrahydroquinolin-4-yl)-N-phenylcyclopropanecarboxamide (K604). K117 and K604 have inhibitory effects on human CRTH2 with Ki values of 5.5 and 11 nM, respectively. The effect of these compounds is CRTH2-specific with no cross-reactivity against 15 other receptors and four arachidonic acid-metabolizing enzymes. K117 and K604 has no effect on the basal Ca2+ level and inhibited the Ca2+ response induced by PGD2 in 293EBNA cells expressing human CRTH2. Also, K117 and K604 inhibit PGD2-induced human eosinophil chemotaxis with IC50 values of 7.8 and 42.2 nM, respectively, but they do not inhibit the CC-chemokine receptor 3 agonist eotaxin-induced chemotaxis. These results indicate that K117 and K604 are highly potent and selective antagonists for human CRTH2. These compounds have possibilities to become useful tools to explore CRTH2 functions in allergic diseases. 相似文献
996.
Background
Chronic lymphocytic leukemia (CLL) is a mature lymphoid neoplasm currently categorized as an indolent type of malignant lymphoma. CLL progresses slowly over years, but it eventually transforms to a more aggressive lymphoma such as the diffuse large B-cell (DLBCL) type, also known as Richter’s syndrome.Case presentation
We treated a 69-year-old Japanese male who was histologically diagnosed with Richter’s syndrome after 6 years of CLL. His lymphadenopathy had systemically progressed for years, with lymphocyte counts of less than 10,000 cells/μL and a disease status of Rai classification stage I and Binet classification B. He had high fever and hepatosplenomegaly upon Richter’s transformation. The patient was treated with ofatumumab for refractory CLL, which relieved his febrile lymphadenopathy. He received a total of 11 ofatumumab courses and achieved partial remission. On the day of the 12th course of ofatumumab, his disease relapsed with febrile lymphadenopathy. Computed tomography revealed multiple liver masses and systemic lymphadenopathy, while a liver biopsy confirmed T-cell lymphoma. Concomitantly, CD20-lacking CLL cells were detected in his peripheral blood and bone marrow, and pathological examination of his left cervical lymph node biopsy showed CD20-positive DLBCL. The final diagnosis was three different types of lymphoma pathologies: (1) CD20-positive DLBCL of the lymph nodes, (2) CD20-lacking CLL of the peripheral blood and bone marrow, and (3) peripheral T-cell lymphoma (PTCL) of the liver. He received intravenous and oral dexamethasone therapy as palliative care. He died because of the rapid progression of abdominal masses 2 months after the diagnosis of triple transformation CLL. An autopsy revealed aggressive PTCL with aggressive systemic involvement of the liver, spleen, gall bladder, pericardium, bone marrow, and mediastinal–paraaortic–intraceliac lymph nodes. T-cell receptor study of an autopsy specimen supported the diagnosis of PTCL that spread to the intraceliac organs and lymph nodes. We concluded that his pathogenicity progressed to a mixture of triple lymphoma as a result of double malignant transformations, which included PTCL from CLL, CD20-negative CLL, and CD20-positive DLBCL by Richter’s transformation.Conclusions
Our case provides information on the biology of CLL, to transform from a low-grade chemosensitive status to a malignant chemoresistant status.997.
Kato O 《Nihon rinsho. Japanese journal of clinical medicine》2005,63(11):1922-1927
The donor transplant coordinator system of our country started in about 1985. However, they were hospital dependent. The Japan organ transplant network (JOTNW) of independent establishments was established in 1995. As a result, The transplant coordinator divided into JOTNW and those who recommended the prefecture. However, the qualification of mediator is the same. Most of the donor in our country is non-heart beating kidney transplant donor. Therefore, the donor transplant coordinator in our country also has treated mainly the non-heart beating donor cases. However, the organ donation in the brain death became possible by enforcing the Organ Transplant Law in October, 1997. Then, it explains coordinator's role in the organ donation in the brain death of our country with a lot of restrictions compared with another country this time. 相似文献
998.
Preoperative diagnosis of clear cell sarcoma of the kidney by detection of BCOR internal tandem duplication in circulating tumor DNA 下载免费PDF全文
Hitomi Ueno‐Yokohata Hajime Okita Keiko Nakasato Tomoro Hishiki Ryota Shirai Shinichi Tsujimoto Tomoo Osumi Satoshi Yoshimura Yuji Yamada Yoko Shioda Chikako Kiyotani Keita Terashima Osamu Miyazaki Kimikazu Matsumoto Nobutaka Kiyokawa Takako Yoshioka Motohiro Kato 《Genes, chromosomes & cancer》2018,57(10):525-529
Clear cell sarcoma of the kidney (CCSK) is the second most common renal malignancy in children. The prognosis is poorer in CCSK than in Wilms’ tumor, and multimodal treatment including surgery, intensive chemotherapy, and radiation is required to improve the outcome for children with CCSK. Histological evaluation is required for the diagnosis. However, biopsies of tumors to obtain diagnostic specimens are not routinely performed because of the risk of spreading tumor cells during the procedure. Recently, internal tandem duplication (ITD) of BCOR has been recognized as a genetic hallmark of CCSK. We herein established a novel BCOR‐ITD‐specific polymerase chain reaction method with well‐designed primers, and then performed a liquid biopsy for cell‐free DNA (cfDNA) obtained from plasma of three children with nonmetastatic renal tumors (stage II) and from one control. BCOR‐ITD was positively detected in the cfDNA of two cases, both of which were later diagnosed as CCSK based on histological feature of the resected tumor specimen, while it was not detected for a normal control and a patient diagnosed with Wilms’ tumor. Our study is the first one of preoperative circulating tumor DNA assay in pediatric renal tumors. The liquid biopsy method enables less invasive, preoperative diagnosis of CCSK with no risk of tumor spillage, which can avoid iatrogenic upstaging. 相似文献
999.
1000.
Kimiaki Hashiguchi Takato Morioka Nobuya Murakami Osamu Togao Akio Hiwatashi Masayuki Ochiai Goki Eriguchi Junji Kishimoto Koji Iihara 《Child's nervous system》2016,32(6):1069-1078