Evaluation of the Sleep Profile in Children With Cri du Chat Syndrome: A Pilot Study.

Autor: Xavier SD; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Moysés-Oliveira M; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil., Kloster AK; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil., Balbueno B; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil., Tufik S; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil., Andersen ML; Sleep Institute, Associação Fundo de Incentivo à Pesquisa, São Paulo, Brazil; Departamento de Psicobiologia, Universidade Federal de São Paulo, São Paulo, Brazil. Electronic address: ml.andersen12@gmail.com.

Publikováno v: Pediatric neurology [Pediatr Neurol] 2024 Jul; Vol. 156, pp. 15-16. Date of Electronic Publication: 2024 Apr 10.

Molecular cytogenetic characterization of distal 5p deletion syndrome in a fetus with a de novo aberrant chromosome 5 at prenatal diagnosis.

Autor: Chen CP; Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com.

Publikováno v: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Mar; Vol. 63 (2), pp. 266-269.

[Neonatal cri-du-chat syndrome revelead by facial dysmorphism and weak suction: a case report].

Autor: Bouh AH; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc., Nejjari M; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc., Hassan AO; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc., Dini N; Faculté de Médecine et Pharmacie, Université Mohammed V, Rabat, Maroc., Ammari IA; Département de Pédiatrie-Néonatologie, Hôpital Universitaire International Mohammed VI, Université Mohammed VI des Sciences et de la Santé, Casablanca, Maroc.

Publikováno v: The Pan African medical journal [Pan Afr Med J] 2023 Dec 19; Vol. 46, pp. 109. Date of Electronic Publication: 2023 Dec 19 (Print Publication: 2023).

Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.

Autor: Holland P; Department of Microbiology, Oslo University Hospital, Oslo, Norway., Wildhagen M; Department of Microbiology, Oslo University Hospital, Oslo, Norway., Istre M; Department of Microbiology, Oslo University Hospital, Oslo, Norway., Reiakvam OM; Department of Microbiology, Oslo University Hospital, Oslo, Norway., Dahl JA; Department of Microbiology, Oslo University Hospital, Oslo, Norway., Søraas A; Department of Microbiology, Oslo University Hospital, Oslo, Norway. arne@meg.no.

Publikováno v: Clinical epigenetics [Clin Epigenetics] 2022 Oct 14; Vol. 14 (1), pp. 128. Date of Electronic Publication: 2022 Oct 14.

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Autor: Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Institute of Experimental Hematology, REBIRTH Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany., Laplantine E; Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France.; Institut de Recherche St. Louis, Hôpital St. Louis, INSERM U944, CNRS U7212, Paris Cité University, 75010 Paris, France., Staels F; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Lacey KA; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Van Nieuwenhove E; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatric Rheumatology and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Chrabieh M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Izmiryan A; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, 75015 Paris, France., Lorenzo L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Kochetkov T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Heesterbeek DAC; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Bardoel BW; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., DuMont AL; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Dobbs K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA., Chardonnet S; Plateforme Post-génomique de la Pitié-Salpêtrière, P3S, UMS Production et Analyse de données en Sciences de la vie et en Santé, PASS, INSERM, Sorbonne University, 75013 Paris, France., Heissel S; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA., Baslan T; Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Yang R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Bogunovic D; Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Wunderink HF; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Haas PA; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Molina H; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA., Van Buggenhout G; Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., Lyonnet S; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory Embryology and Genetics of Malformations, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA., Seppänen MRJ; Rare Disease and Pediatric Research Centers, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, 00260 Helsinki, Finland., Weil R; Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France., Seminario G; Center for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina., Gomez-Tello H; Immunology Department, Poblano Children's Hospital, 72190 Puebla, Mexico., Wouters C; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, 3000 Leuven, Belgium., Mesdaghi M; Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468-155514 Tehran, Iran., Shahrooei M; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, 15468-155514 Ahvaz, Iran., Bossuyt X; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Sag E; Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Hacettepe University, 06230 Ankara, Turkey., Ozen S; Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey., Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., van Eijk MMJ; Department of Intensive Care Medicine, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Bezrodnik L; Center for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina., Blancas Galicia L; Immune Deficiencies Laboratory National Institute of Pediatrics, 04530 Mexico City, Mexico., Hovnanian A; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, 75015 Paris, France.; Department of Genetics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Nassif A; Centre Médical, Institut Pasteur, 75724 Paris, France., Bader-Meunier B; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France., Neven B; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France., Meyts I; Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatrics, Jeffrey Modell Diagnostic and Research Network Center, University Hospitals Leuven, 3000 Leuven, Belgium., Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA., Torres VJ; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Humblet-Baron S; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Liston A; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; VIB Center for Brain and Disease Research, Leuven 3000, Belgium.; Immunology Programme, Babraham Institute, Babraham Research Campus, Cambridge CB22 3AT, UK., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.

Publikováno v: Science (New York, N.Y.) [Science] 2022 Jun 17; Vol. 376 (6599), pp. eabm6380. Date of Electronic Publication: 2022 Jun 17.