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排序方式: 共有10000条查询结果,搜索用时 187 毫秒
1.
Sirufo Maria Maddalena Magnanimi Lina Maria Ginaldi Lia De Martinis Massimo 《Clinical rheumatology》2022,41(12):3921-3922
Clinical Rheumatology - 相似文献
2.
Abou-Dakn Michael Alexy Ute Beyer Kirsten Cremer Monika Ensenauer Regina Flothkötter Maria Geene Raimund Hellmers Claudia Joisten Christine Koletzko Berthold Mata Jutta Schiffner Ulrich Somm Irene Speck Melanie Weißenborn Anke Wöckel Achim 《Monatsschrift für Kinderheilkunde》2022,170(10):925-928
Monatsschrift Kinderheilkunde - 相似文献
3.
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
4.
Paula Pessin Fábrega Branisso Claudia Pinto Marques Souza de Oliveira Hilton Muniz Leão Filho Fabiana Roberto Lima Aritânia Sousa Santos Marcio Correa Mancini Maria Edna de Melo Flair José Carrilho Manoel de Souza Rocha Paul Clark Henrique José Pereira Branisso Cintia Cercato 《Annals of hepatology》2022,27(4):100707
IntroductionAlthough hyperferritinemia may reflect the inflammatory status of patients with non-alcoholic fatty liver disease (NAFLD), approximately 33% of hyperferritinemia cases reflect real hepatic iron overload.AimTo evaluate a non-invasive method for assessing mild iron overload in patients with NAFLD using 3T magnetic resonance imaging (MRI) relaxometry, serum hepcidin, and the expression of ferritin subunits.MethodsThis cross-sectional study assessed patients with biopsy-proven NAFLD. MRI relaxometry was performed using a 3T scanner in all patients, and the results were compared with iron content determined by liver biopsy. Ferritin, hepcidin, and ferritin subunits were assessed and classified according to ferritin levels and to siderosis identified by liver biopsy.ResultsA total of 67 patients with NAFLD were included in the study. MRI revealed mild iron overload in all patients (sensitivity, 73.5%; specificity, 70%). For mild (grade 1) siderosis, the transverse relaxation rate (R2*) threshold was 58.9 s?1 and the mean value was 72.5 s?1 (SD, 33.9), while for grades 2/3 it was 88.2 s?1 (SD, 31.9) (p < 0.001). The hepcidin threshold for siderosis was > 30.2 ng/mL (sensitivity, 87%; specificity, 82%). Ferritin H and ferritin L subunits were expressed similarly in patients with NAFLD, regardless of siderosis. There were no significant differences in laboratory test results between the groups, including glucose parameters and liver function tests.ConclusionsMRI relaxometry and serum hepcidin accurately assessed mild iron overload in patients with dysmetabolic iron overload syndrome. 相似文献
5.
Maria Eugenia Olmedo Raquel Cervera Luis Cabezon-Gutierrez Yolanda Lage Elena Corral de la Fuente Ana G mez Rueda Xabier Mielgo-Rubio Juan Carlos Trujillo Felipe Cou ago 《World journal of clinical oncology》2022,13(4):276-286
The 2004 discovery of EGFR mutations, followed by ALK rearrangements, ushered in a targeted therapy era for advanced non-small cell lung cancer (NSCLC). Tyrosine kinase inhibitors targeting gene alterations have substantially improved survival and quality of life for patients with NSCLC. In the last decade, rearrangements of the ROS1 oncogene have been incorporated into healthcare practice that are applicable to another small subgroup of patients who benefit from similar targeted strategies. Recent genome studies of lung adenocarcinoma have identified other possible therapeutic targets, including RET, NTRK fusions, c-MET alterations, and activating mutations in KRAS, BRAF, and HER2, all with frequencies greater than 1%. Lung cancers harbouring these genome changes can potentially be treated with agents approved for other indications or under clinical development. This review updates the therapeutic arsenal that especially targets those genes. 相似文献
6.
Amorim Mateus R. de Jesus Aline A. Santos-Junior Nilton N. Rocha Maria J. A. Nogueira Jonatas E. Batalhão Marcelo E. Cárnio Evelin C. Branco Luiz G. S. 《Inflammation》2022,45(3):1239-1253
Inflammation - Sepsis affects 31.5 million people worldwide. It is characterized by an intense drop in blood pressure driving to cardiovascular morbidity and mortality. Modern supportive care has... 相似文献
7.
Malou A.H. Nuijten Thijs M.H. Eijsvogels Valerie M. Monpellier Ignace M.C. Janssen Eric J. Hazebroek Maria T.E. Hopman 《Obesity reviews》2022,23(1):e13370
Postbariatric loss of muscle tissue could negatively affect long-term health due to its role in various bodily processes, such as metabolism and functional capacity. This meta-analysis aimed to unravel time-dependent changes in the magnitude and progress of lean body mass (LBM), fat-free mass (FFM), and skeletal muscle mass (SMM) loss following bariatric surgery. A systematic literature search was conducted in Pubmed, Embase, and Web of Science. Fifty-nine studies assessed LBM (n = 37), FFM (n = 20), or SMM (n = 3) preoperatively and ≥1 time points postsurgery. Random-effects meta-analyses were performed to determine pooled loss per outcome parameter and follow-up time point. At 12-month postsurgery, pooled LBM loss was ?8.13 kg [95%CI ?9.01; ?7.26]. FFM loss and SMM loss were ?8.23 kg [95%CI ?10.74; ?5.73] and ?3.18 kg [95%CI ?5.64; ?0.71], respectively. About 55% of 12-month LBM loss occurred within 3-month postsurgery, followed by a more gradual decrease up to 12 months. Similar patterns were seen for FFM and SMM. In conclusion, >8 kg of LBM and FFM loss was observed within 1-year postsurgery. LBM, FFM, and SMM were predominantly lost within 3-month postsurgery, highlighting that interventions to mitigate such losses should be implemented perioperatively. 相似文献
8.
Lara N. Roberts Ton Lisman Simon Stanworth Virginia Hernandez-Gea Maria Magnusson Armando Tripodi Jecko Thachil 《Journal of thrombosis and haemostasis》2022,20(1):39-47
Prolonged prothrombin time and thrombocytopenia are common in patients with cirrhosis. These parameters do not reflect the overall hemostatic rebalance or bleeding risk in the periprocedural setting; however, attempts to correct these parameters remain frequent. We review the literature on periprocedural bleeding risk, bleeding risk factors, and the risk and benefits of hemostatic interventions in patients with cirrhosis. We provide guidance recommendations on evaluating bleeding risk in this patient group and management of hemostatic abnormalities in the periprocedural setting. 相似文献
9.
10.
Kniggendorf Vinicius Souza Maria Eduarda Perrud Russo Thatiane de Lima Marcelo Andrade Grupenmacher Alex Treiger Regatieri Caio V. Dreyfuss Juliana L. 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2022,260(12):3847-3855
Graefe's Archive for Clinical and Experimental Ophthalmology - The purpose of this study was to measure the anti-angiogenic effect of N-desulfated Re–N-acetylated, a chemically modified... 相似文献