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Roni Shouval MD PhD Myriam Labopin MD Norbert C. Gorin MD David Bomze MSc Mohamed Houhou PhD Didier Blaise MD Tsila Zuckerman MD Gabriela M. Baerlocher MD Saveria Capria MD Edouard Forcade MD Anne Huynh MD Riccardo Saccardi MD Massimo Martino MD Michel Schaap MD PhD Depei Wu MD PhD Mohamad Mohty MD PhD Arnon Nagler MD MSc 《Cancer》2019,125(20):3566-3573
613.
Ferdinand Dhombres Patricia Morgan Bimal P. Chaudhari Isabel Filges Teresa N. Sparks Pablo Lapunzina Tony Roscioli Umber Agarwal Shagun Aggarwal Claire Beneteau Pilar Cacheiro Leigh C. Carmody Sophie Collardeau-Frachon Esther A. Dempsey Andreas Dufke Michael Henri Duyzend Mirna el Ghosh Jessica L. Giordano Ragnhild Glad Ieva Grinfelde Dominic G. Iliescu Markus S. Ladewig Monica C. Munoz-Torres Marzia Pollazzon Francesca Clementina Radio Carlota Rodo Raquel Gouveia Silva Damian Smedley Jagadish Chandrabose Sundaramurthi Sabrina Toro Irene Valenzuela Nicole A. Vasilevsky Ronald J. Wapner Roni Zemet Melissa A Haendel Peter N. Robinson 《American journal of medical genetics. Part C, Seminars in medical genetics》2022,190(2):231-242
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic disease can help to strategize treatment options and clinical preventive measures during the perinatal period, to plan in utero therapies, and to inform parental decision-making. Fetal phenotypes of genetic diseases are often unique and at present are not well understood; more comprehensive knowledge about prenatal phenotypes and computational resources have an enormous potential to improve diagnostics and translational research. The Human Phenotype Ontology (HPO) has been widely used to support diagnostics and translational research in human genetics. To better support prenatal usage, the HPO consortium conducted a series of workshops with a group of domain experts in a variety of medical specialties, diagnostic techniques, as well as diseases and phenotypes related to prenatal medicine, including perinatal pathology, musculoskeletal anomalies, neurology, medical genetics, hydrops fetalis, craniofacial malformations, cardiology, neonatal-perinatal medicine, fetal medicine, placental pathology, prenatal imaging, and bioinformatics. We expanded the representation of prenatal phenotypes in HPO by adding 95 new phenotype terms under the Abnormality of prenatal development or birth (HP:0001197) grouping term, and revised definitions, synonyms, and disease annotations for most of the 152 terms that existed before the beginning of this effort. The expansion of prenatal phenotypes in HPO will support phenotype-driven prenatal exome and genome sequencing for precision genetic diagnostics of rare diseases to support prenatal care. 相似文献
614.
Idit Ron PhD Ragad Mdah MSc Roni Zemet MD Rakefet Yoeli Ulman MD Moran Rathaus PhD Benny Brandt MD Shali Mazaki-Tovi MD Rina Hemi PhD Ehud Barhod PhD Amir Tirosh PhD 《Diabetes, obesity & metabolism》2023,25(11):3192-3201
Aims
One of the most common complications of pregnancy is gestational diabetes mellitus (GDM), which may result in significant health threats of the mother, fetus and the newborn. Fatty acid-binding protein 4 (FABP4) is an adipokine that regulates glucose homeostasis by promoting glucose production and liver insulin resistance in mouse models. FABP4 levels are increased in GDM and correlates with maternal indices of insulin resistance, with a rapid decline post-partum. We therefore aimed to determine the tissue origin of elevated circulating FABP4 levels in GDM and to assess its potential contribution in promoting glucagon-induced hepatic glucose production.Materials and Methods
FABP4 protein and gene expression was determined in biopsies from placenta, subcutaneous (sWAT) and visceral (vWAT) white adipose tissues from GDM and normoglycaemic pregnant women. FABP4 differential contribution in glucagon-stimulated hepatic glucose production was tested in conditioned media before and after its immune clearance.Results
We showed that FABP4 is expressed in placenta, sWAT and vWAT of pregnant women at term, with a significant increase in its secretion from vWAT of women with GDM compared with normoglycaemic pregnant women. Neutralizing FABP4 from both normoglycaemic pregnant women and GDM vWAT secretome, resulted in a decrease in glucagon-stimulated hepatic glucose production.Conclusions
This study provides new insights into the role of adipose tissue-derived FABP4 in GDM, highlighting this adipokine, as a potential co-activator of glucagon-stimulated hepatic glucose production during pregnancy. 相似文献615.
Shlomo Elias Samantha Brown Sean M. Devlin Juliet N. Barker Christina Cho David J. Chung Parastoo B. Dahi Sergio Giralt Boglarka Gyurkocza Ann A. Jakubowski Oscar B. Lahoud Heather Landau Richard J. Lin Esperanza B. Papadopoulos Ioannis Politikos Doris M. Ponce Michael Scordo Brian C. Shaffer Gunjan L. Shah Roni Tamari James W. Young Miguel-Angel Perales Roni Shouval 《British journal of haematology》2023,203(5):840-851
Comorbidity assessment before allogeneic haematopoietic cell transplantation (allo-HCT) is essential for estimating non-relapse mortality (NRM) risk. We previously developed the Simplified Comorbidity Index (SCI), which captures a small number of ‘high-yield’ comorbidities and older age. The SCI was predictive of NRM in myeloablative CD34-selected allo-HCT. Here, we evaluated the SCI in a single-centre cohort of 327 patients receiving reduced-intensity conditioning followed by unmanipulated allografts from HLA-matched donors. Among the SCI factors, age above 60, mild renal impairment, moderate pulmonary disease and cardiac disease were most frequent. SCI scores ranged from 0 to 8, with 39%, 20%, 20% and 21% having scores of 0–1, 2, 3 and ≥4 respectively. Corresponding cumulative incidences of 3-year NRM were 11%, 16%, 22% and 27%; p = 0.03. In multivariable models, higher SCI scores were associated with incremental risks of all-cause mortality and NRM. The SCI had an area under the receiver operating characteristic curve of 65.9%, 64.1% and 62.9% for predicting 1-, 2- and 3-year NRM versus 58.4%, 60.4% and 59.3% with the haematopoietic cell transplantation comorbidity index. These results demonstrate for the first time that the SCI is predictive of NRM in patients receiving allo-HCT from HLA-matched donors after reduced-intensity conditioning. 相似文献
616.
Christine E. Ryan Rebecca L. Zon Robert Redd David C. Fisher Roni Shouval Anita Kumar Jennifer L. Crombie Hossein Sadrzadeh Austin I. Kim Lakshmi Nayak Ugonma N. Chukwueke Caron A. Jacobson Matthew J. Frigault M. Lia Palomba Philippe Armand Zachary Epstein-Peterson Reid W. Merryman 《British journal of haematology》2023,203(5):774-780
Data describing outcomes of chimeric antigen receptor (CAR) T-cell therapy in patients with secondary central nervous system (SCNS) involvement of mantle cell lymphoma (MCL) are limited. We identified 10 patients with MCL and SCNS involvement treated with anti-CD19 CAR T-cell therapy at three US academic centres. Frequent objective responses were observed in the CNS (86%) and systemically (90%), and the 1-year progression-free survival was 47%. Seven patients developed immune-effector-cell-associated-neurotoxicity-syndrome (n = 2 Grade 1, n = 5 Grade 3). Our results suggest that anti-CD19 CAR T-cell therapy in this setting is feasible and additional data regarding neurotoxicity in this population may be warranted. 相似文献
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619.
Some aspects of our memory are enhanced by emotion, whereas others can be unaffected or even hindered. Previous studies reported impaired associative memory of emotional content, an effect termed associative “emotional interference”. The current study used EEG and an associative recognition paradigm to investigate the cognitive and neural mechanisms associated with this effect. In two experiments, participants studied negative and neutral stimulus-pairs that were either semantically related or unrelated. In Experiment 1 emotions were relevant to the encoding task (valence judgment) whereas in Experiment 2 emotions were irrelevant (familiarity judgment). In a subsequent associative recognition test, EEG was recorded while participants discriminated between intact, rearranged, and new pairs. An associative emotional interference effect was observed in both experiments, but was attenuated for semantically related pairs in Experiment 1, where valence was relevant to the task. Moreover, a modulation of an early associative memory ERP component (300–550 ms) occurred for negative pairs when valence was task-relevant (Experiment 1), but for semantically related pairs when valence was irrelevant (Experiment 2). A later ERP component (550–800 ms) showed a more general pattern, and was observed in all experimental conditions. These results suggest that both valence and semantic relations can act as an organizing principle that promotes associative binding. Their ability to contribute to successful retrieval depends on specific task demands. 相似文献
620.
Hadar Dikstein Tal Gilon-Mann Roni Halevi-Yosef Adi Enoch-Levi Sami Hamdan Eitan Gur Yair Bar Haim Amit Lazarov Janet Treasure Daniel Stein 《European eating disorders review》2023,31(2):285-302
Patients with anorexia nervosa (AN) display elevated anxiety and attention biases (ABs) in threat processing. Attention bias modification treatment (ABMT) is considered promising for anxiety disorders, but its potential for AN is limited. In this study, 154 young women hospitalised because of AN were assigned to ED-related and anxiety-related threat stimuli, or to a non-ABMT intervention control condition in a randomized control trial. Hundred-and-ten patients completed the study. ABMT was an add-on to the regular inpatient treatment. Research participants completed two pretreatment training sessions and eight biweekly sessions of ABMT. AB, ED-related symptoms, depression, anxiety and stress were assessed before and after ABMT in the research groups, and, similarly, 5 weeks apart, in the controls. We found that despite the different patterns of change in AB between the three groups following ABMT, the reduction in AB, or the between-group differences in AB-reduction, were not significant. While the severity of ED-symptoms, depression, anxiety and stress was reduced following ABMT, or control condition, in all groups, there were no between-group differences in these changes. Changes in AB were not correlated with baseline and pre-post-treatment changes in ED-related and comorbid symptomatology. Methodological and inpatient treatment-related considerations may explain our negative ABMT-related results. 相似文献