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https://www.readbyqxmd.com/read/28636531/nedd9-an-independent-good-prognostic-factor-in-intermediaterisk-acute-myeloid-leukemia-patients
#1
Victor Pallarès, Montserrat Hoyos, M Carmen Chillón, Eva Barragán, M Isabel Prieto Conde, Marta Llop, María Virtudes Céspedes, Josep F Nomdedeu, Salut Brunet, Miguel Ángel Sanz, Marcos González-Díaz, Jorge Sierra, Isolda Casanova, Ramon Mangues
Intermediate-risk acute myeloid leukemia (IR-AML) is the largest subgroup of AML patients and is highly heterogeneous. Whereas adverse and favourable risk patients have well-established treatment protocols, IR-AML patients have not. It is, therefore, crucial to find novel factors that stratify this subgroup to implement risk-adapted strategies. The CAS (Crk-associated substrate) adaptor protein family regulates cell proliferation, survival, migration and adhesion. Despite its association with metastatic dissemination and prognosis of different solid tumors, the role of these proteins in hematological malignancies has been scarcely evaluated...
June 16, 2017: Oncotarget
https://www.readbyqxmd.com/read/28629746/severe-disease-and-greater-impairment-of-nf-%C3%AE%C2%BAb-activation-in-i%C3%AE%C2%BAba-point-mutants-versus-truncation-mutants-in-autosomal-dominant-anhidrotic-ectodermal-dysplasia-with-immune-deficiency
#2
Daniel Petersheim, Michel J Massaad, Saetbyul Lee, Alessia Scarselli, Caterina Cancrini, Kunihiko Moriya, Yoji Sasahara, Arjan C Lankester, Morna Dorsey, Daniela Di Giovanni, Liliana Bezrodnik, Hidenori Ohnishi, Ryuta Nishikomori, Kay Tanita, Hirokazu Kanegane, Tomohiro Morio, Erwin W Gelfand, Ashish Jain, Elizabeth Secord, Capucine Picard, Jean-Laurent Casanova, Michael H Albert, Troy R Torgerson, Raif S Geha
BACKGROUND: Autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to S32 and S36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation, and thus activation of the canonical NF-κB pathway. The outcome of hematopoietic stem cell transplantation is poor in AD EDA-ID despite achievement of chimerism. Mice heterozygous for the S32I mutation in IκBα have impaired non-canonical NF-κB activity and defective lymphorganogenesis...
June 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28624268/-female-to-male-transgender-chest-reconstruction-a-retrospective-study-of-patient-satisfaction
#3
B Bertrand, A-S Perchenet, T R Colson, D Drai, D Casanova
BACKGROUND: Mammaplasty in gender reassignment surgery is often poorly understood, due to a lack of information about this condition and its therapy. The aim of this work was to evaluate patient satisfaction following bilateral mastectomy for female-to-male gender reassignment. METHODS: We contacted 22 patients who underwent mammaplasty for female-to-male gender reassignment between January 2012 and March 2013 in our university hospital. Patients were sent postal questionnaires...
June 14, 2017: Annales de Chirurgie Plastique et Esthétique
https://www.readbyqxmd.com/read/28623904/impact-of-preconceptional-micronutrient-supplementation-on-maternal-mental-health-during-pregnancy-and-postpartum-results-from-a-randomized-controlled-trial-in-vietnam
#4
Phuong H Nguyen, Ann M DiGirolamo, Ines Gonzalez-Casanova, Hoa Pham, Wei Hao, Hieu Nguyen, Truong V Truong, Son Nguyen, Kimberly B Harding, Gregory A Reinhart, Reynaldo Martorell, Usha Ramakrishnan
BACKGROUND: Micronutrient malnutrition has been associated with maternal depressive symptoms (MDS), but little is known about the effects of preconceptional micronutrient supplementation. This paper examined the effects of preconceptional micronutrient supplementation on MDS during pregnancy and postpartum. METHODS: We used data from a double-blind controlled trial (PRECONCEPT) in which 5011 Vietnamese women were randomized to receive weekly supplements containing either a) multiple micronutrients (MM) b) iron and folic acid (IFA) or c) folic acid (FA) until conception (n = 1813)...
June 17, 2017: BMC Women's Health
https://www.readbyqxmd.com/read/28615372/preconception-micronutrient-supplementation-with-iron-and-folic-acid-compared-with-folic-acid-alone-affects-linear-growth-and-fine-motor-development-at-2-years-of-age-a-randomized-controlled-trial-in-vietnam
#5
Phuong H Nguyen, Ines Gonzalez-Casanova, Melissa F Young, Truong Viet Truong, Hue Hoang, Huong Nguyen, Son Nguyen, Ann M DiGirolamo, Reynaldo Martorell, Usha Ramakrishnan
Background: Maternal health and nutrition play a crucial role in early child growth and development. However, little is known about the benefits of preconception micronutrient interventions beyond the role of folic acid (FA) and neural tube defects.Objective: We evaluated the impact of weekly preconception multiple micronutrient (MM) or iron and folic acid (IFA) supplementation on child growth and development through the age of 2 y compared with FA alone.Methods: We followed 1599 offspring born to women who participated in a randomized controlled trial of preconception supplementation in Vietnam...
June 14, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28613149/carlosrosaea-hohenbergiae-sp-nov-and-carlosrosaea-aechmeae-sp-nov-two-tremellaceous-yeasts-isolated-from-bromeliads-in-north-eastern-brazil
#6
Ciro R Felix, Hector Mauricio Casanova Navarro, Gustavo Vasconcelos Bastos Paulino, Leonardo Broetto, Melissa Fontes Landell
Yeast surveys associated with different bromeliads in north-eastern Brazil led to the proposal of two novel yeast species, Carlosrosaea hohenbergiae sp. nov. and Carlosrosaea aechmeae sp. nov., belonging to the Tremellales clade (Agaricomycotina, Basidiomycota). Analysis of the sequences of the internal transcribed spacer (ITS) region and D1/D2 domain of the LSU rRNA gene suggested an affinity with a phylogenetic lineage that includes recently reclassified Carlosrosaeavrieseae. Six isolates of the novel species were obtained from different bromeliad species collected in three Atlantic Forest fragments in Alagoas state, Brazil...
June 14, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/28612488/front-line-window-therapy-with-cisplatin-in-patients-with-primary-disseminated-ewing-sarcoma-a-study-by-the-associazione-italiana-di-ematologia-ed-oncologia-pediatrica-and-italian-sarcoma-group
#7
Roberto Luksch, Giovanni Grignani, Paolo D'Angelo, Arcangelo Prete, Nadia Puma, Marta Podda, Michela Casanova, Andrea Ferrari, Carlo Morosi, Franca Fagioli, Massimo Aglietta, Stefano Ferrari, Piero Picci, Maura Massimino
The aim was to assess the activity of cisplatin (CDDP) in Ewing sarcoma (ES). The study consisted of front-line window therapy with CDDP 120 mg/sqm every 3 weeks for two courses in children and young adults with primary disseminated ES. Response was assessed using the Response Evaluation Criteria in Solid Tumours criteria, and Simon's two-stage design was applied. Twelve consecutive patients were enrolled in stage 1. Only one objective response was observed. Since the target response rate was not achieved, accrual was stopped and CDDP as a single agent in ES was judged unworthy of further assessment...
June 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28606988/recurrent-rhinovirus-infections-in-a-child-with-inherited-mda5-deficiency
#8
Ian T Lamborn, Huie Jing, Yu Zhang, Scott B Drutman, Jordan K Abbott, Shirin Munir, Sangeeta Bade, Heardley M Murdock, Celia P Santos, Linda G Brock, Evan Masutani, Emmanuel Y Fordjour, Joshua J McElwee, Jason D Hughes, Dave P Nichols, Aziz Belkadi, Andrew J Oler, Corinne S Happel, Helen F Matthews, Laurent Abel, Peter L Collins, Kanta Subbarao, Erwin W Gelfand, Michael J Ciancanelli, Jean-Laurent Casanova, Helen C Su
MDA5 is a cytosolic sensor of double-stranded RNA (ds)RNA including viral byproducts and intermediates. We studied a child with life-threatening, recurrent respiratory tract infections, caused by viruses including human rhinovirus (HRV), influenza virus, and respiratory syncytial virus (RSV). We identified in her a homozygous missense mutation in IFIH1 that encodes MDA5. Mutant MDA5 was expressed but did not recognize the synthetic MDA5 agonist/(ds)RNA mimic polyinosinic-polycytidylic acid. When overexpressed, mutant MDA5 failed to drive luciferase activity from the IFNB1 promoter or promoters containing ISRE or NF-κB sequence motifs...
June 12, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28605510/phase-i-study-of-oral-sonidegib-lde225-in-pediatric-brain-and-solid-tumors-and-a-phase-ii-study-in-children-and-adults-with-relapsed-medulloblastoma
#9
Mark W Kieran, Julia Chisholm, Michela Casanova, Alba A Brandes, Isabelle Aerts, Eric Bouffet, Simon Bailey, Sarah Leary, Tobey J MacDonald, Francoise Mechinaud, Kenneth J Cohen, Riccardo Riccardi, Warren Mason, Darren Hargrave, Stacey Kalambakas, Priya Deshpande, Feng Tai, Eunju Hurh, Birgit Geoerger
Background.: Sonidegib (LDE225) is a potent, selective Hedgehog (Hh) inhibitor of SMOOTHENED. This study explored the safety and pharmacokinetics (PK) of sonidegib in children with relapsed/recurrent tumors followed by a phase II trial in pediatric and adult patients with relapsed medulloblastoma (MB) to assess tumor response. Methods.: Pediatric patients aged ≥1-<18 years were included according to a Bayesian design starting at 372mg/m2 of continuous once daily oral sonidegib...
June 9, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28604677/pramel7-mediates-ground-state-pluripotency-through-proteasomal-epigenetic-combined-pathways
#10
Urs Graf, Elisa A Casanova, Sarah Wyck, Damian Dalcher, Marco Gatti, Eva Vollenweider, Michal J Okoniewski, Fabienne A Weber, Sameera S Patel, Marc W Schmid, Jiwen Li, Jafar Sharif, Guido A Wanner, Haruhiko Koseki, Jiemin Wong, Pawel Pelczar, Lorenza Penengo, Raffaella Santoro, Paolo Cinelli
Naive pluripotency is established in preimplantation epiblast. Embryonic stem cells (ESCs) represent the immortalization of naive pluripotency. 2i culture has optimized this state, leading to a gene signature and DNA hypomethylation closely comparable to preimplantation epiblast, the developmental ground state. Here we show that Pramel7 (PRAME-like 7), a protein highly expressed in the inner cell mass (ICM) but expressed at low levels in ESCs, targets for proteasomal degradation UHRF1, a key factor for DNA methylation maintenance...
June 12, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28603914/mutation-in-il36rn-impairs-the-processing-and-regulatory-function-of-the-interleukin-36-receptor-antagonist-and-is-associated-with-ditra-syndrome
#11
Elodie Bal, Ai Ching Lim, Min Shen, Jason Douangpanya, Marine Madrange, Rihab Gazah, Marie Tauber, Walid Beghdadi, Jean Laurent Casanova, Emmanuelle Bourrat, Hervé Bachelez, Jennifer E Towne, Asma Smahi
No abstract text is available yet for this article.
June 11, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28599368/burn-effects-on-soil-properties-associated-to-heat-transfer-under-contrasting-moisture-content
#12
David Badía, Sergio López-García, Clara Martí, Oriol Ortíz-Perpiñá, Antonio Girona-García, José Casanova-Gascón
The aim of this work is to investigate the topsoil thickness affected by burning under contrasting soil moisture content (field capacity versus air-dried conditions). A mollic horizon of an Aleppo pine forest was sampled and burned in the laboratory, recording the temperature continuously at the topsoil surface and at soil depths of 1, 2, and 3cm. Changes in soil properties were measured at 0-1, 1-2, 2-3, and 3-4cm. Both the maximum temperature and the charring intensities were significantly lower in wet soils than in air-dried soils up to 3cm in depth...
June 5, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28597685/a-gain-of-function-mutation-of-stat1-a-novel-genetic-factor-contributing-to-chronic-mucocutaneous-candidiasis
#13
Narges Eslami, Marzieh Tavakol, Mehrnaz Mesdaghi, Mohammad Gharegozlou, Jean-Laurent Casanova, Anne Puel, Satoshi Okada, Saba Arshi, Mohammad Hassan Bemanian, Morteza Fallahpour, Rasool Molatefi, Farhad Seif, Samaneh Zoghi, Nima Rezaei, Mohammad Nabavi
Heterozygous gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) have increasingly been identified as a genetic cause of autosomal-dominant (AD) chronic mucocutaneous candidiasis (CMC). In this article, we describe a 33-year-old man who experienced chronic refractory candidiasis, recurrent otitis media, and pneumonia resulting in bronchiectasis, severe oral and esophageal candidiases with strictures associated with hypothyroidism and immune hemolytic anemia. His son also suffered from persistent candidiasis, chronic diarrhea, poor weight gain, and pneumonia that resulted in his demise because of sepsis...
June 9, 2017: Acta Microbiologica et Immunologica Hungarica
https://www.readbyqxmd.com/read/28597146/human-i%C3%AE%C2%BAb%C3%AE-gain-of-function-a-severe-and-syndromic-immunodeficiency
#14
REVIEW
Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova
Germline heterozygous gain-of-function (GOF) mutations of NFKBIA, encoding IκBα, cause an autosomal dominant (AD) form of anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Fourteen unrelated patients have been reported since the identification of the first case in 2003. All mutations enhanced the inhibitory activity of IκBα, by preventing its phosphorylation on serine 32 or 36 and its subsequent degradation. The mutation certainly or probably occurred de novo in 13 patients, whereas it was inherited from a parent with somatic mosaicism in one patient...
June 9, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28595751/pancreas-transplantation-50-years-of-experience
#15
Daniel Casanova
In December 1966, the first pancreas transplant ever was performed at the University of Minnesota. R. Lillehei and W. Kelly, transplanted a kidney and a pancreas in a diabetic patient on dialysis, getting function of both organs. Since then, the technical and immunological advances in this transplant have resulted in graft and patient survival results as the rest of the abdominal solid organ transplants. The balance of these 50 years is that more than 50,000 diabetic patients have been transplanted in more than 200 centers around the world...
May 2017: Cirugía Española
https://www.readbyqxmd.com/read/28589941/nanoimaging-of-resonating-hyperbolic-polaritons-in-linear-boron-nitride-antennas
#16
F J Alfaro-Mozaz, P Alonso-González, S Vélez, I Dolado, M Autore, S Mastel, F Casanova, L E Hueso, P Li, A Y Nikitin, R Hillenbrand
Polaritons in layered materials-including van der Waals materials-exhibit hyperbolic dispersion and strong field confinement, which makes them highly attractive for applications including optical nanofocusing, sensing and control of spontaneous emission. Here we report a near-field study of polaritonic Fabry-Perot resonances in linear antennas made of a hyperbolic material. Specifically, we study hyperbolic phonon-polaritons in rectangular waveguide antennas made of hexagonal boron nitride (h-BN, a prototypical van der Waals crystal)...
June 7, 2017: Nature Communications
https://www.readbyqxmd.com/read/28589356/characterization-of-the-b-cell-transcriptome-bound-by-rna-binding-proteins-with-iclip
#17
Manuel D Díaz-Muñoz, Elisa Monzón-Casanova, Martin Turner
Posttranscriptional regulation of gene expression shapes the B cell transcriptome and controls messenger RNA (mRNA) translation into protein. Recent reports have highlighted the importance of RNA binding proteins (RBPs) for mRNA splicing, subcellular location, stability, and translation during B lymphocyte development, activation, and differentiation. Here we describe individual-nucleotide resolution UV cross-linking and immunoprecipitation (iCLIP) in primary lymphocytes, a method that maps RNA-protein interactions in a genome-wide scale allowing mechanistic analysis of RBP function...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28585371/influences-of-early-child-nutritional-status-and-home-learning-environment-on-child-development-in-vietnam
#18
Phuong H Nguyen, Ann M DiGirolamo, Ines Gonzalez-Casanova, Melissa Young, Nicole Kim, Son Nguyen, Reynaldo Martorell, Usha Ramakrishnan
Early childhood development plays a key role in a child's future health, educational success, and economic status. However, suboptimal early development remains a global challenge. This study examines the influences of quality of the home learning environment (HOME) and child stunting in the first year of life on child development. We used data collected from a randomized controlled trial of preconceptional micronutrient supplementation in Vietnam (n = 1,458). The Bayley Scales of Infant Development-III were used to assess cognition, language, and motor development domains at 2 years...
June 6, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/28584022/ikk%C3%AE-mediated-resistance-to-skin-cancer-development-is-ink4a-arf-dependent
#19
Angustias Page, Ana Bravo, Cristian Suárez-Cabrera, Josefa P Alameda, M LLanos Casanova, Corina Lorz, Carmen Segrelles, Jose C Segovia, Jesus M Paramio, Manuel Navarro, Angel Ramírez
IKKβ (encoded by IKBKB) is a protein kinase that regulates the activity of numerous proteins important in several signaling pathways, such as the nuclear factor kappa B (NF-κB) pathway. IKKβ exerts a pro-tumorigenic role in several animal models of lung, hepatic, intestinal and oral cancer. In addition, genomic and proteomic studies of human tumors also indicate that IKBKB gene is amplified or overexpressed in multiple tumor types. Here, the relevance of IKKβ in skin cancer was determined by performing carcinogenesis studies in animal models overexpressing IKKβ in the basal skin layer...
June 5, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28577567/erratum-to-telomere-shortening-and-accelerated-aging-in-copd-findings-from-the-bode-cohort
#20
Elizabeth Cordoba-Lanus, Sara Cazorla-Rivero, Adriana Espinoza-Jimenez, Juan P de-Torres, María J Pajares, Armando Aguirre-Jaime, Bartolomé Celli, Ciro Casanova
No abstract text is available yet for this article.
June 2, 2017: Respiratory Research
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