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41.
Takaaki Hayashi Katsuhiro Hosono Akiko Kubo Kentaro Kurata Satoshi Katagiri Kei Mizobuchi Minehiro Kurai Norihito Mamiya Mineo Kondo Toshiaki Tachibana Hirotomo Saitsu Tsutomu Ogata Tadashi Nakano Yoshihiro Hotta 《American journal of medical genetics. Part A》2020,182(6):1500-1505
Mucolipidosis type IV (MLIV) is an autosomal recessively inherited lysosomal storage disorder characterized by progressive psychomotor delay and retinal degeneration that is associated with biallelic variants in the MCOLN1 gene. The gene, which is expressed in late endosomes and lysosomes of various tissue cells, encodes the transient receptor potential channel mucolipin 1 consisting of six transmembrane domains. Here, we described 14‐year follow‐up observation of a 4‐year‐old Japanese male MLIV patient with a novel homozygous in‐frame deletion variant p.(F313del), which was identified by whole‐exome sequencing analysis. Neurological examination revealed progressive psychomotor delay, and atrophy of the corpus callosum and cerebellum was observed on brain magnetic resonance images. Ophthalmologically, corneal clouding has remained unchanged during the follow‐up period, whereas optic nerve pallor and retinal degenerative changes exhibited progressive disease courses. Light‐adapted electroretinography was non‐recordable. Transmission electron microscopy of granulocytes revealed characteristic concentric multiple lamellar structures and an electron‐dense inclusion in lysosomes. The in‐frame deletion variant was located within the second transmembrane domain, which is of putative functional importance for channel properties. 相似文献
42.
Diagnostic utility of galectin-3 and CD26/DPPIV as preoperative diagnostic markers for thyroid nodules 总被引:3,自引:0,他引:3
Aratake Y Umeki K Kiyoyama K Hinoura Y Sato S Ohno A Kuribayashi T Hirai K Nabeshima K Kotani T 《Diagnostic cytopathology》2002,26(6):366-372
The aim of this study was to search for diagnostic markers that could correctly identify thyroid nodular lesions requiring urgent surgical treatment. We investigated whether galectin-3 and dipeptidyl peptidase IV (CD26/DPPIV) could be potential markers for improving the diagnostic accuracy of conventional cytology. Seventy-nine patients with histologically proven thyroid diseases were analyzed. The immunocytochemical staining results showed galectin-3 expression in neoplastic cells of all 37 papillary carcinomas, five of six follicular carcinomas, all three anaplastic carcinomas, one of three medullary carcinomas, and two of 14 follicular adenomas. All 16 adenomatous goiters were negative for galectin-3 immunostaining. On the other hand, all 37 papillary carcinomas, all six follicular carcinomas, and one of three anaplastic carcinomas revealed CD26/DPPIV expression, whereas all three medullary carcinomas were negative. Among benign thyroid lesions, four of 14 follicular adenomas and two of 16 adenomatous goiters exhibited varying degrees of immunoreactivity for CD26/DPPIV. RT-PCR analysis demonstrated overexpression of galectin-3 and CD26/DPPIV mRNAs in all six papillary and all three follicular carcinomas analyzed, whereas the mRNA expressions of these molecules were barely or not detectable in benign thyroid lesions and normal thyroid tissues, except for one case of follicular adenoma. In conclusion, we demonstrate that galectin-3 and CD26/DPPIV were consistently coexpressed at protein and mRNA levels in differentiated thyroid carcinomas. We propose that combined immunostaining for galectin-3 and CD26/DPPIV in the preoperative evaluation of thyroid nodules may play a role in accurate cytodiagnosis. 相似文献
43.
Tsuneyuki Sato Kentaro Toyosu Hitoshi Tanaka 《Macromolecular chemistry and physics.》1993,194(10):2797-2805
The system of lanthanum versatate ( 1 ) and p-chlorobenzenediazonium tetrafluoroborate ( 2 ) was found to induce effectively polymerizations of electron-accepting monomers such as methyl methacrylate ( 3 ) and di-2-ethylhexyl itaconate (DEHI). The polymerization rate (Rp) was expressed by Rp = k[ 1 / 2 ]0,44 [ 3 ]0,65 at 50°C fixing the mole ratio of 1 and 2 at unity. The overall activation energy of the polymerization was calculated to be 37, 1 kJ · mol?1. The spin trapping result revealed that the initiator system produces p-chloropheneyl radicals. The polymerization system of DEHI was observed to involve ESR-observable propagating polymer radicals, indicating that the polymerization initiated with the 1/2 system proceeds through radical mechanism. During the polymerization, the ESR spectrum was changed in shape, suggesting that the propagating polymer radicals interact with some species formed by the initiation reaction. Interacting polymer radicals were also observed in the polymerizations of diethyl itaconate and N-dodecylmaleimide with the 1/2 system. The polymerization systems of MMA, styrene and butyl acrylate were also found to involve ESR-observable radicals, although it is vague whether they are propagating polymer radicals or not. 相似文献
44.
The prevalence of TT virus (TTV) infection and its relationship to hepatitis in children 总被引:4,自引:0,他引:4
Iriyama M Kimura H Nishikawa K Yoshioka K Wakita T Nishimura N Shibata M Ozaki T Morishima T 《Medical microbiology and immunology》1999,188(2):83-89
TT virus (TTV) is a newly discovered virus from a patient with post-transfusion hepatitis. We investigated the frequency
and pathogenesis of TTV infection in children. A semi-nested PCR assay was used to amplify TTV-DNA in serum samples from 254
ambulatory children without liver disease, 20 with hepatitis of unknown etiology, and 18 transfusion recipients or hemophiliacs.
In positive samples, TTV-DNA was quantified by real-time quantitative PCR using a fluorescent probe. We detected TTV-DNA in
20% of children with hepatitis of unknown etiology, which was not statistically different from the 23% prevalence in ambulatory
children. In transfusion recipients or hemophiliacs, the frequency was higher (50%) than that in ambulatory children (P = 0.01). Among ambulatory children, TTV-DNA was frequently detected in children with acute gastroenteritis (36%). TTV-DNA
was detected in 10% of the infants under 6 months old, and 20% of the children from 7 to 12 months old. The prevalence was
constant after the age of 1 year; however, the copy number of TTV-DNA was significantly higher in children under 1 year of
age (mean: 105.4 versus 103.8 copies/ml, P= 0.008). Finally, TTV-DNA was quantified serially in three children with chronic hepatitis who were positive for TTV-DNA.
The presence or amount of TTV-DNA was unrelated to the serum alanine aminotransferase level. These results indicate that TTV
infection is common in children. The larger quantity of TTV-DNA in infants and the high prevalence of TTV in children of all
ages suggest that TTV may be transmitted in early childhood. Its relationship to hepatitis is doubtful in children.
Received: 8 April 1999 相似文献
45.
Denervation of dopaminergic neurons with 6-hydroxydopamine increases nerve growth factor content in rat brain. 总被引:4,自引:0,他引:4
A Nitta Y Furukawa K Hayashi M Hiramatsu T Kameyama T Hasegawa T Nabeshima 《Neuroscience letters》1992,144(1-2):152-156
Denervation of dopaminergic neurons by intra nigral injection of 6-hydroxydopamine (6-OHDA) increased nerve growth factor (NGF) content in the cortex and hippocampus, both of which are innervated by cholinergic neurons. The increase continued during an observation period of 0.5-28 days after the lesion. The time course of changes in NGF content was quite different from that of cholinergic neuron denervation. The decreased dopamine content produced in the striatum by 6-OHDA injection was not recovered during the observation period. These results suggest that dopaminergic neuron damage may affect NGF synthesis. 相似文献
46.
Shikata K Kukita Y Matsumoto T Esaki M Yao T Mochizuki Y Hayashi K Iida M 《American journal of medical genetics. Part A》2005,134(3):326-329
We treated a 39-year-old woman with hypoproteinemia and anemia who had profuse gastric polyposis. Radiographic and endoscopic examination showed numerous polyps restricted to the stomach. The patient had pulmonary arteriovenous malformations in the left lung. Histological examination of the resected stomach revealed the gastric polyposis to be composed of cystic dilatation of the glands with small areas of adenocarcinoma. These findings were compatible with gastric juvenile polyposis (GJP) accompanied by gastric cancer. Analysis of genomic DNA revealed that the patient had truncating mutation of SMAD4, a responsible gene for juvenile polyposis (JP). Our case suggests that SMAD4 is possibly a responsible gene for GJP. 相似文献
47.
48.
Journal of Anesthesia - 相似文献
49.
We identified dish-based dietary patterns for breakfast, lunch, and dinner and assessed the diet quality of each pattern. Dietary data were obtained from 392 Japanese adults aged 20–69 years in 2013, using a 4 d dietary record. K-means cluster analysis was conducted based on the amount of each dish group, separately for breakfasts (n = 1462), lunches (n = 1504), and dinners (n = 1500). The diet quality of each dietary pattern was assessed using the Healthy Eating Index 2015 (HEI-2015) and Nutrient-Rich Food Index 9.3 (NRF9.3). The extracted dietary patterns were as follows: ‘bread-based’ and ‘rice-based’ for breakfast; ‘bread’, ‘rice-based’, ‘ramen’, ‘udon/soba’, and ‘sushi/rice bowl dishes’ for lunch; and ‘miscellaneous’, ‘meat dish and beer’, and ‘hot pot dishes’ for dinner. For breakfast, the HEI-2015 and NRF9.3 total scores were higher in the ‘rice-based’ pattern than the ‘bread-based’ pattern. For lunch, the HEI-2015 and NRF9.3 total scores were relatively high in the ‘rice-based’ pattern and low in the ‘ramen’ pattern. For dinner, the HEI-2015 total score was the highest in the ‘meat dish and beer’ pattern, and the NRF9.3 total score was higher in the ‘hot pot dishes’ than the ‘miscellaneous’ pattern. These results suggested that breakfast, lunch, and dinner have distinctive dietary patterns with different diet qualities. 相似文献
50.
Kentaro Fujiwara Takanori Ochi Hiroyuki Koga Go Miyano Shogo Seo Tadaharu Okazaki Masahiko Urao Geoffrey J. Lane Risto J. Rintala Atsuyuki Yamataka 《Journal of pediatric surgery》2021,56(7):1136-1140
PurposeTo report the sequelae of and preventive strategies for selected lower urinary tract (LUT) complications, i.e., posterior urethral diverticulum (PUD), intraoperative LUT injuries, postoperative dysuria, and fistula recurrence in male imperforate anus (IA) with rectourethral/rectovesical (RU/RV) fistula after laparoscopy-assisted anorectoplasty (LAARP) or posterior sagittal anorectoplasty (PSARP).Methods153 boys with IA and RU/RV fistula treated 1986–2019 by LAARP (n = 56) or PSARP (n = 97) at two unrelated institutes were studied retrospectively.ResultsAfter mean follow-up of 17.0 years (range: 36.5 days-32.0 years), the overall incidences of LUT complications were: LAARP (6/56; 10.7%); PSARP (7/97; 7.2%); p = 0.55, comprising PUD: LAARP (n = 5), PSARP (n = 0); p = 0.006; injuries: LAARP (n = 0), PSARP (n = 5); p = 0.16; dysuria: LAARP (n = 1), PSARP (n = 1); p>0.999; and recurrence: LAARP (n = 0), PSARP (n = 1); p>0.999. Mean onset of PUD was 5.1 years (range: 1.0–15.1 years). Treatment: PUD: surgery (n = 2/5), conservative (n = 3/5); injuries: intraoperative repair (n = 5/5); dysuria: conservative (n = 2/2), and recurrence: redo PSARP (n = 1/1).ConclusionsStrategies devised to improve dissection accuracy resolved the specific technical issues causing LUT complications (remnant RU fistula dissection in LAARP and blind posterior access in PSARP). Currently, the incidence of new cases of PUD and LUT injuries is zero.Level of Evidence: Level III 相似文献