Acute Appendicitis after Liver Transplantation: A Case Report and Review of the Literature

Autor: SE Sheppard, HL Marecki, CM Psoinos, B Movahedi, MJ Furman, A Bozorgzadeh, PN Martins

Publikováno v: International Journal of Organ Transplantation Medicine, Vol 8, Iss 4 (2017)

Acute appendicitis is one of the most common etiologies for acute abdomen. However, fewer than 30 cases of acute appendicitis after liver transplantation have so far been reported in the literature. Previous case studies have concluded that acute app

Externí odkaz: https://doaj.org/article/4d7e112b7b6f4eb7afbcaa318afdf822

Central conducting lymphatic anomaly: from bench to bedside.

Autor: Garlisi Torales LD; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Sempowski BA; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Krikorian GL; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Woodis KM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Paulissen SM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA., Smith CL; Division of Cardiology, Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sheppard SE; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver, National Institute of Child Health and Human Development, NIH, Bethesda, Maryland, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Apr 15; Vol. 134 (8). Date of Electronic Publication: 2024 Apr 15.

Updates in Genetic Testing for Head and Neck Vascular Anomalies.

Autor: Woodis KM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA., Garlisi Torales LD; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA., Wolf A; Department of Pathology and ARUP Laboratories, University of Utah, 2000 Circle of Hope, Room 3100, Salt Lake City, UT 84112, USA., Britt A; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sheppard SE; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute for Child Health and Human Development, 10 Center Drive, MSC 1103, Bethesda, MD 20892-1103, USA. Electronic address: sarah.sheppard@nih.gov.

Publikováno v: Oral and maxillofacial surgery clinics of North America [Oral Maxillofac Surg Clin North Am] 2024 Feb; Vol. 36 (1), pp. 1-17. Date of Electronic Publication: 2023 Oct 20.

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Autor: Gracia-Diaz C; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Yang Q; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Maroofian R; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Espana-Bonilla P; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Lee CH; Department of Biomedical Sciences and Pharmacology, Seoul National University, College of Medicine, Seoul, South Korea., Zhang S; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Padilla N; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain., Fueyo R; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Waxman EA; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lei S; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Otrimski G; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Mark P; Department of Pediatrics, Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Powel C; Leicestershire Clinical Genetics Service, University Hospitals of Leicester NHS Trust, Leicester Royal Infirmary, Leicester, UK., Mohammed S; Guy's Hospital, London, UK., Maddirevula S; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alzaidan H; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Efthymiou S; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Turchetti V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Rahman F; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Maqbool S; Developmental and Behavioral Pediatrics, University of Child Health Sciences & The Children's Hospital, Lahore, Pakistan., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Ibrahim SH; Department of Pediatrics and Child Health, Aga Khan University Hospital, Karachi, Pakistan., di Rosa G; Child Neuropsychiatry Unit, Department of Pediatrics, University of Messina, Messina, 98100, Italy., Houlden H; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, UK., Alharbi MN; Maternity and Children Hospital Buraidah, Qassim Health Cluster, Buraydah, Saudi Arabia., Al-Sannaa NA; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Bauer P; Centogene GmbH, Rostock, Germany., Zifarelli G; Centogene GmbH, Rostock, Germany., Estaras C; Center for Translational Medicine, Department of Cardiovascular Sciences, Temple University, Philadelphia, PA, USA., Hurst ACE; University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Chassevent A; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks CL; Department of Neurogenetics, Neurology and Developmental Medicine Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, USA., de la Cruz X; Research Unit in Clinical and Translational Bioinformatics, Vall d'Hebron Institute of Research (VHIR), Universitat Autonoma de Barcelona, Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Holtz AM; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, 20877, USA., Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA., Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., French DL; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA., Heller EA; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Philadelphia, PA, USA., Saade M; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Song H; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Ming GL; Department of Neuroscience and Mahoney Institute for Neurosciences, University of Pennsylvania, Philadelphia, PA, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Agrawal PB; Division of Genetics & Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Division of Neonatology, Department of Pediatrics, University of Miami School of Medicine and Holtz Children's Hospital, Jackson Heath System, Miami, FL, USA., Reinberg D; HHMI/NYU Langone School of Medicine, New York, NY, USA., Bhoj EJ; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Martínez-Balbás MA; Department of Structural and Molecular Biology, Instituto de Biología Molecular de Barcelona (IBMB), Consejo Superior de Investigaciones Científicas (CSIC), Barcelona, Spain., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA. aquizun@chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. aquizun@chop.edu.

Publikováno v: Nature communications [Nat Commun] 2023 Jul 11; Vol. 14 (1), pp. 4109. Date of Electronic Publication: 2023 Jul 11.

Genomic profiling informs diagnoses and treatment in vascular anomalies.

Autor: Li D; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Lid2@chop.edu.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. Lid2@chop.edu., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., March ME; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Battig MR; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Surrey LF; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Srinivasan AS; Division of Interventional Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Matsuoka LS; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Tian L; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang F; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Seiler C; Zebrafish Core, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dayneka J; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Borst AJ; Division of Hematology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Matos MC; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Paulissen SM; Unit on Vascular Malformations, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, USA., Krishnamurthy G; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nriagu B; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sikder T; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Casey M; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Williams L; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rangu S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., O'Connor N; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Thomas A; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pinto E; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hou C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nguyen K; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Pellegrino da Silva R; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Chehimi SN; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kao C; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Biroc L; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Britt AD; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Queenan M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Reid JR; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Napoli JA; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Low DM; Division of Plastic, Reconstructive, and Oral Surgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vatsky S; Division of Interventional Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Treat J; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Smith CL; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cahill AM; Division of Interventional Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Snyder KM; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Adams DM; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dori Y; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@chop.edu.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@chop.edu.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. hakonarson@chop.edu.

Publikováno v: Nature medicine [Nat Med] 2023 Jun; Vol. 29 (6), pp. 1530-1539. Date of Electronic Publication: 2023 Jun 01.