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Sirufo Maria Maddalena Magnanimi Lina Maria Ginaldi Lia De Martinis Massimo 《Clinical rheumatology》2022,41(12):3921-3922
Clinical Rheumatology - 相似文献
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Karhanová Marta Kalitová Jana Kovář Radim Schovánek Jan Karásek David Čivrný Jakub Hübnerová Petra Mlčák Petr Šín Martin 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2022,260(12):3977-3984
Graefe's Archive for Clinical and Experimental Ophthalmology - The purpose was to ascertain if any relation exists between the elevated intraocular pressure (IOP) in patients with... 相似文献
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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
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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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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
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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
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Elisa Moya-Sáez Rafael Navarro-González Santiago Cepeda Ángel Pérez-Núñez Rodrigo de Luis-García Santiago Aja-Fernández Carlos Alberola-López 《NMR in biomedicine》2022,35(9):e4754
Glioblastoma is an aggressive and fast-growing brain tumor with poor prognosis. Predicting the expected survival of patients with glioblastoma is a key task for efficient treatment and surgery planning. Survival predictions could be enhanced by means of a radiomic system. However, these systems demand high numbers of multicontrast images, the acquisitions of which are time consuming, giving rise to patient discomfort and low healthcare system efficiency. Synthetic MRI could favor deployment of radiomic systems in the clinic by allowing practitioners not only to reduce acquisition time, but also to retrospectively complete databases or to replace artifacted images. In this work we analyze the replacement of an actually acquired MR weighted image by a synthesized version to predict survival of glioblastoma patients with a radiomic system. Each synthesized version was realistically generated from two acquired images with a deep learning synthetic MRI approach based on a convolutional neural network. Specifically, two weighted images were considered for the replacement one at a time, a T2w and a FLAIR, which were synthesized from the pairs T1w and FLAIR, and T1w and T2w, respectively. Furthermore, a radiomic system for survival prediction, which can classify patients into two groups (survival >480 days and 480 days), was built. Results show that the radiomic system fed with the synthesized image achieves similar performance compared with using the acquired one, and better performance than a model that does not include this image. Hence, our results confirm that synthetic MRI does add to glioblastoma survival prediction within a radiomics-based approach. 相似文献