Search results for " reports"
showing 10 items of 199 documents
A novel GABRB3 variant in Dravet syndrome: Case report and literature review
2020
Abstract Background Mutations in GABRB3 have been identified in subjects with different types of epilepsy and epileptic syndromes, including West syndrome (WS), Dravet syndrome (DS), Lennox‐Gastaut syndrome (LGS), myoclonic‐atonic epilepsy (MAE), and others. Methods and results We herewith report on a girl affected by DS, who has been followed from infancy to the current age of 18 years. Next‐generation sequencing (NGS)‐based genetic testing for multigene analysis of neurodevelopmental disorders identified two likely de novo pathogenic mutations, a missense variant in GABRB3 gene (c.842 C>T; p.Thr281IIe) and a nonsense variant found in BBS4 gene (c.883 C>T; p.Arg295Ter). Conclusion A likely…
L’annuaire des centres de ressources biologiques français
2011
Cette norme sera etendue aux CRB gerant des collections d’echantillons biologiques d’origines animale et vegetale en 2011. Cette evolution a ete rendue necessaire, tout en etant facilitee, par la mise en place de reseaux d’excellence de CRB/biobanques aux niveaux national (reseau des biobanques [6]), europeen (BBMRI [7], EMbaRC [8], EMBRC [9])1 et international (P3G [10]). C’est dans ce contexte que le projet « Infrastructure informatique interoperable pour les CRB » (I3-CRB [11]) a ete finance lors de l’appel a projet 2008 du Groupement d’interet scientifique « infrastructures en biologie sante et agronomie » (GIS IBiSA) et du CCRB. La communaute nationale des CRB a emis le souhait de disp…
Crystal structure of 12-benzylsulfanyl-2,9-dibromo-6H-dibenzo[b,g][1,8]naphthyridin-11-one
2015
The hetero-tetra-cene skeleton of the title mol-ecule, C23H14Br2N2OS, is defined by linear annulation of four six-membered rings, including two N heteroatoms. This moiety is nearly planar (r.m.s. deviation = 0.055 Å), with a slight twist of 4.1 (2)° between the two halves of the aromatic system. The dihedral angle between the least-squares plane of the skeleton and the benzyl group is 24.5 (3)°; the C-S-C angle involving the benzyl-sulfanyl group is 99.2 (4)°. In the crystal, mol-ecules are π-stacked in an anti-parallel fashion along [110], with a distance between the aromatic planes of 3.47 (2) Å. Inter-molecular N-H⋯O hydrogen bonds form chains extending parallel to [001] and bridge the a…
Hacia la ley europea del clima: las evaluaciones científicas y el futuro papel de las respuestas jurídicas de los estados miembros
2021
Los problemas climáticos son temas persistentes y omnipresentes dentro de las políticas y legislaciones contemporáneas, que exigen un enfoque interdisciplinario para promover soluciones jurídicas adecuadas para la complejidad del tema. Paradójicamente, las propagandas negacionistas, lejos de bloquear las acciones climáticas, las han propiciado, lo que ha llevado al establecimiento de un organismo científico super partes que reconociese las cuestiones climáticas a través de informes científicos avanzados: el Grupo Intergubernamental de Expertos sobre el Cambio Climático de la ONU (IPCC). Desde entonces, muchos países han usado los hallazgos del IPCC como base científica para desarrollar polí…
Twelve-Month Estrogen Levels in Premenopausal Women With Hormone Receptor–Positive Breast Cancer Receiving Adjuvant Triptorelin Plus Exemestane or Ta…
2016
Purpose To describe estradiol (E2), estrone (E1), and estrone sulfate (E1S) levels during the first year of monthly triptorelin plus exemestane or tamoxifen and to assess possible suboptimal suppression while receiving exemestane plus triptorelin. Patients and Methods Premenopausal patients with early breast cancer on the Suppression of Ovarian Function Trial who selected triptorelin as the ovarian suppression method and were randomly assigned to exemestane plus triptorelin or tamoxifen plus triptorelin were enrolled until the target population of 120 patients was reached. Blood sampling time points were 0, 3, 6, 12, 18, 24, 36, and 48 months. Serum estrogens were measured with a highly sen…
Clinical Features And Course Of Refractory Anemia With Ring Sideroblasts Associated With Marked Thrombocytosis
2012
Background Refractory anemia with ring sideroblasts associated with marked thrombocytosis was proposed as a provisional entity in the 2001 World Health Organization classification of myeloid neoplasms and also in the 2008 version, but its existence as a single entity is contested. We wish to define the clinical features of this rare myelodysplastic/myeloproliferative neoplasm and to compare its clinical outcome with that of refractory anemia with ring sideroblasts and essential thrombocythemia. Design and Methods We conducted a collaborative retrospective study across Europe. Our database included 200 patients diagnosed with refractory anemia with ring sideroblasts and marked thrombocytosis…
Evidence for Human Adaptation and Foodborne Transmission of Livestock-Associated Methicillin-Resistant Staphylococcus aureus
2016
We investigated the evolution and epidemiology of a novel livestock-associated methicillin-resistant Staphylococcus aureus strain, which colonizes and infects urban-dwelling Danes even without a Danish animal reservoir. Genetic evidence suggests both poultry and human adaptation, with poultry meat implicated as a probable source.
IL28B polymorphisms influence stage of fibrosis and spontaneous or interferon-induced viral clearance in thalassemia patients with hepatitis C virus …
2012
Background. Polymorphisms in the interleukin-28B are important determinants in the spontaneous and drug-induced control of hepatitis C virus infection. Design and Methods. We assessed the association of rs8099917 and rs12979860 polymorphisms with spontaneous viral clearance, severity of liver fibrosis, and response to interferon-monotherapy in 245 Thalassemia Major patients with Hepatitis C Virus infection. Results. Ninety-eight patients (40%) had a spontaneous viral clearance, while 147 patients (60%) developed a chronic infection. Spontaneous viral clearance was more frequent among patients with the T/T genotype of rs8099917 polymorphism (OR 2.130; p=0.008) or C/C genotype of rs12979860 p…
The monocytic population in chronic lymphocytic leukemia shows altered composition and deregulation of genes involved in phagocytosis and inflammatio…
2013
Macrophages reside in tissues infiltrated by chronic lymphocytic leukemia B cells and the extent of infiltration is associated with adverse prognostic factors. We studied blood monocyte population by flow cytometry and whole-genome microarrays. A mixed lymphocyte reaction was performed to evaluate proliferation of T cells in contact with monocytes from patients and normal donors. Migration and gene modulation in normal monocytes cultured with CLL cells were also evaluated. The absolute number of monocytes increased in chronic lymphocytic leukemia patients compared to the number in normal controls (792 +/- 86 cells/mu L versus 485 +/- 46 cells/mL, P=0.003). Higher numbers of non-classical CD…
Hematopoietic stem-cell transplantation for advanced systemic mastocytosis
2014
Purpose Advanced systemic mastocytosis (SM), a fatal hematopoietic malignancy characterized by drug resistance, has no standard therapy. The effectiveness of allogeneic hematopoietic stem-cell transplantation (alloHCT) in SM remains unknown. Patients and Methods In a global effort to define the value of HCT in SM, 57 patients with the following subtypes of SM were evaluated: SM associated with clonal hematologic non–mast cell disorders (SM-AHNMD; n = 38), mast cell leukemia (MCL; n = 12), and aggressive SM (ASM; n = 7). Median age of patients was 46 years (range, 11 to 67 years). Donors were HLA-identical (n = 34), unrelated (n = 17), umbilical cord blood (n = 2), HLA-haploidentical (n = 1)…