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排序方式: 共有10000条查询结果,搜索用时 15 毫秒
1.
Bodagh Neil Yap Reuben Kotadia Irum Sim Iain Bhalla Ajay Somerville Peter O’Neill Mark Williams Steven E. 《Journal of interventional cardiac electrophysiology》2022,65(1):271-286
Journal of Interventional Cardiac Electrophysiology - Atrial fibrillation is associated with an increased risk of cognitive impairment. It is unclear whether the restoration of sinus rhythm with... 相似文献
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Silvia Radenkovic Diego Martinelli Yuebo Zhang Graeme J. Preston Arianna Maiorana Alessandra Terracciano Maria Lisa Dentici Elisa Pisaneschi Antonio Novelli Wasantha Ranatunga Anna N. Ligezka Bart Ghesquière David R. Deyle Tamas Kozicz Filippo Pinto e Vairo Peter Witters Eva Morava 《Genetics in medicine》2022,24(4):894-904
PurposeTRAPPC9 deficiency is an autosomal recessive disorder mainly associated with intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has not been associated with biochemical abnormalities.MethodsExome sequencing was performed in 3 individuals with ID and dysmorphic features. N-Glycosylation analyses were performed in the patients’ blood samples to test for possible congenital disorder of glycosylation (CDG). TRAPPC9 gene, TRAPPC9 protein expression, and N-glycosylation markers were assessed in patient fibroblasts. Complementation with wild-type TRAPPC9 and immunofluorescence studies to assess TRAPPC9 expression and localization were performed. The metabolic consequences of TRAPPC9 deficiency were evaluated using tracer metabolomics.ResultsAll 3 patients carried biallelic missense variants in TRAPPC9 and presented with an N-glycosylation defect in blood, consistent with CDG type I. Extensive investigations in patient fibroblasts corroborated TRAPPC9 deficiency and an N-glycosylation defect. Tracer metabolomics revealed global metabolic changes with several affected glycosylation-related metabolites.ConclusionWe identified 3 TRAPPC9 deficient patients presenting with ID, dysmorphic features, and abnormal glycosylation. On the basis of our findings, we propose that TRAPPC9 deficiency could lead to a CDG (TRAPPC9-CDG). The finding of abnormal glycosylation in these patients is highly relevant for diagnosis, further elucidation of the pathophysiology, and management of the disease. 相似文献
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Shareen Forbes Anneliese J. Flatt Denise Bennett Robert Crookston Mirka Pimkova Linda Birtles Andrew Pernet Ruth C. Wood Keith Burling Peter Barker Claire Counter Alistair Lumb Pratik Choudhary Martin K. Rutter Miranda Rosenthal Andrew Sutherland John Casey Paul Johnson James A. M. Shaw 《American journal of transplantation》2022,22(1):154-164
The UK islet allotransplant program is nationally funded to deliver one or two transplants over 12 months to individuals with type 1 diabetes and recurrent severe hypoglycemia. Analyses were undertaken 10 years after program inception to evaluate associations between transplanted mass; single versus two transplants; time between two transplants and graft survival (stimulated C-peptide >50 pmol/L) and function. In total, 84 islet transplant recipients were studied. Uninterrupted graft survival over 12 months was attained in 23 (68%) single and 47 (94%) (p = .002) two transplant recipients (separated by [median (IQR)] 6 (3–8) months). 64% recipients of one or two transplants with uninterrupted function at 12 months sustained graft function at 6 years. Total transplanted mass was associated with Mixed Meal Tolerance Test stimulated C-peptide at 12 months (p < .01). Despite 1.9-fold greater transplanted mass in recipients of two versus one islet infusion (12 218 [9291–15 417] vs. 6442 [5156–7639] IEQ/kg; p < .0001), stimulated C-peptide was not significantly higher. Shorter time between transplants was associated with greater insulin dose reduction at 12 months (beta ?0.35; p = .02). Graft survival over the first 12 months was greater in recipients of two versus one islet transplant in the UK program, although function at 1 and 6 years was comparable. Minimizing the interval between 2 islet infusions may maximize cumulative impact on graft function. 相似文献
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Hommes Franziska Mohsenpour Amir Kropff Dana Pilgram Lisa Matusall Svenja von Philipsborn Peter Sell Kerstin 《Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz》2022,65(1):96-106
Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Akteure der öffentlichen Gesundheit (Public Health) tragen wesentlich zu Gesundheitsschutz, -förderung und... 相似文献
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Ibrahim Aldoss MD Salman Otoukesh MD Jianying Zhang PhD Sally Mokhtari PhD Dat Ngo PharmD Mona Mojtahedzadeh MD Monzr M. Al Malki MD Amandeep Salhotra MD Haris Ali MD Ahmed Aribi MD Karamjeet S. Sandhu MD Shukaib Arslan MD Paul Koller MD Brian Ball MD Forrest Stewart MD Peter Curtin MD Andrew Artz MD Ryotaro Nakamura MD Guido Marcucci MD Stephen J. Forman MD Anthony S. Stein MD Vinod Pullarkat MD 《Cancer》2022,128(3):529-535
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Rutenberg Michael S. Holtzman Adam L. Indelicato Daniel J. Huh Soon Rao Dinesh Fiester Peter J. Morris Christopher G. Tavanaiepour Daryoush Amdur Robert J. 《Journal of neuro-oncology》2022,157(3):425-433
Journal of Neuro-Oncology - To report disease control and treatment-related side effects among adult patients with craniopharyngioma treated with radiotherapy. We performed a single-institution... 相似文献
10.
Saghiri Mohammad Ali Freag Peter Nath Devyani Morgano Steven M. 《Odontology / the Society of the Nippon Dental University》2022,110(4):648-654
Odontology - This study was performed to evaluate the effect of diabetes mellitus (DM) on the tensile bond strength (TBS) of dental composite resin bonding to enamel and dentin of extracted human... 相似文献