Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Autor: Baz-Redón N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Antolín M; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Clemente M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Campos A; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Mogas E; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Fernández-Cancio M; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Zafon E; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., García-Arumí E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Clinical and Molecular Genetics and Rare Disease, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Soler L; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., González-Llorens N; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Aguilar-Riera C; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain., Camats-Tarruella N; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Yeste D; Growth and Development Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Pediatric Endocrinology Section, Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pediatrics, Obstetrics and Gynecology and Preventive Medicine Department, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain.

Publikováno v: International journal of molecular sciences [Int J Mol Sci] 2024 Aug 03; Vol. 25 (15). Date of Electronic Publication: 2024 Aug 03.

Persistent or New Cytopenias Predict Relapse Better than Routine Bone Marrow Aspirate Evaluations After Hematopoietic Cell Transplantation for Acute Leukemia or Myelodysplastic Syndrome in Children and Young Adult Patients.

Autor: Kernan NA; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York. Electronic address: kernann@mskcc.org., Klein E; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York., Mauguen A; Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York., Torok-Castanza J; Division of Nursing, Memorial Sloan Kettering Cancer Center, New York, New York., Prockop SE; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Dana Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA Harvard Medical School, Boston, Massachusetts., Scaradavou A; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York., Curran K; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York., Spitzer B; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Hackensack University Medical Center, Hackensack, New Jersey., Cancio M; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York., Ruggiero J; Division of Nursing, Memorial Sloan Kettering Cancer Center, New York, New York., Allen J; Division of Nursing, Memorial Sloan Kettering Cancer Center, New York, New York., Harris A; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York., Oved J; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York., O'Reilly RJ; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York., Boelens JJ; Department of Pediatrics, Stem Cell Transplantation and Cellular Therapies Service, MSK Kids, Memorial Sloan Kettering Cancer Service. New York, New York; Department of Pediatrics, Weill Cornell Medicine, New York, New York.

Publikováno v: Transplantation and cellular therapy [Transplant Cell Ther] 2024 Jul; Vol. 30 (7), pp. 692.e1-692.e12. Date of Electronic Publication: 2024 Apr 20.

Two novel assays demonstrate persistent daratumumab exposure in a pediatric patient with delayed engraftment following allogeneic hematopoietic stem cell transplantation.

Autor: Major-Monfried H; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA. Electronic address: majormh@mskcc.org., Hosszu K; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., McAvoy DP; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Vallone A; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Shukla N; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Gillio A; Pediatric Blood and Marrow Transplantation, Hackensack University Medical Center, Hackensack, New Jersey, USA., Spitzer B; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA; Pediatric Blood and Marrow Transplantation, Hackensack University Medical Center, Hackensack, New Jersey, USA., Kung AL; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Cancio M; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Curran K; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Scaradavou A; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Oved JH; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., O'Reilly RJ; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Boelens JJ; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Harris AC; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York, USA.

Publikováno v: Cytotherapy [Cytotherapy] 2024 May; Vol. 26 (5), pp. 466-471. Date of Electronic Publication: 2024 Feb 29.

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Autor: Baz-Redón N; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Sánchez-Bellver L; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain., Fernández-Cancio M; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Rovira-Amigo S; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain., Burgoyne T; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London SW3 6NP, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Ranjit R; Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust, London SW3 6NP, UK., Aquino V; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain., Toro-Barrios N; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain., Carmona R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Plataforma Andaluza de Medicina Computacional, Fundación Pública Andaluza Progreso y Salud, 41092 Sevilla, Spain., Polverino E; Pneumology Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Pneumology Department, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain., Cols M; Paediatric Pulmonology Department and Cystic Fibrosis Unit, Hospital Sant Joan de Déu, 08950 Esplugues de Llobregat, Spain., Moreno-Galdó A; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Department of Paediatrics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Department of Paediatrics, Obstetrics, Gynecology, Preventive Medicine and Public Health, Universitat Autònoma de Barcelona, 08193 Bellaterra, Spain., Camats-Tarruella N; Growth and Development Research Group, Vall d'Hebron Research Institute (VHIR), Hospital Universitari Vall d'Hebron, 08035 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Marfany G; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Departament de Genètica, Microbiologia i Estadística, Universitat de Barcelona, 08028 Barcelona, Spain.; Institute of Biomedicine (IBUB-IRSJD), Universitat de Barcelona, 08028 Barcelona, Spain.

Publikováno v: Cells [Cells] 2024 Mar 16; Vol. 13 (6). Date of Electronic Publication: 2024 Mar 16.

Niveles plasmáticos de vitamina D en población autóctona y en poblaciones inmigrantes de diferentes etnias menores de 6 años de edad

Autor: Sánchez Muro, J.M., Yeste Fernández, D., Marín Muñoz, A., Fernández Cancio, M., Audí Parera, L., Carrascosa Lezcano, A.

Publikováno v: In Anales de Pediatria May 2015 82(5):316-324