Results 51 to 60 of about 13,796 (248)

A Case Report of Thrombocytopenia Caused by a May–Hegglin Anomaly in a Young Saudi Female

Journal of Investigative Medicine High Impact Case Reports
Low platelet count is rarely caused by inherited thrombocytopenia. May–Hegglin anomaly is an uncommon condition that falls under the umbrella of familial thrombocytopenia.
Rehab Y. Al-Ansari MBBS, SBIM, SBH, Rawan Rashed Aljohani MBBS, Rayan Mansour Aljurbua MBBS, Ali Mohammed Alasmari MBBS, IAUH, Muhammad F. Abdellatif MBBS, Nawaf Zakary MBBS, SBIM, AGHF, AATEF   +5 more
doaj   +1 more source

Generation of the human induced pluripotent stem cell line (SHAMUi001-A) carrying the heterozygous c.-128G>T mutation in the 5′-UTR of the ANKRD26 gene

Stem Cell Research, 2020
Thrombocytopenia 2 (THC2) is a major type of inherited thrombocytopenia caused by the persistent ANKRD26 expression during the late stage of megakaryocytopoiesis.
Chengning Tan, Limeng Dai, Wuchen Yang, Fengjie Li, Li Wang, Yanni Xiao, Xiaojie Wang, Yichi Zhang, Yali Wang, Cheng Zeng, Zheng Xiang, Xiaomei Zhang, Weiwei Zhang, Qian Ran, Maoshan Chen, Zhongjun Li, Li Chen   +16 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study

Hepatology, EarlyView., 2022
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study. Abstract Background and Aims Alagille syndrome (ALGS) is a multisystem disorder, characterized by cholestasis. Existing outcome data are largely derived from tertiary centers, and real‐world data are lacking.
Shannon M. Vandriel, Li‐Ting Li, Huiyu She, Jian‐She Wang, Melissa A. Gilbert, Irena Jankowska, Piotr Czubkowski, Dorota Gliwicz‐Miedzińska, Emmanuel M. Gonzales, Emmanuel Jacquemin, Jérôme Bouligand, Nancy B. Spinner, Kathleen M. Loomes, David A. Piccoli, Lorenzo D'Antiga, Emanuele Nicastro, Étienne Sokal, Tanguy Demaret, Noelle H. Ebel, Jeffrey A. Feinstein, Rima Fawaz, Silvia Nastasio, Florence Lacaille, Dominique Debray, Henrik Arnell, Björn Fischler, Susan Siew, Michael Stormon, Saul J. Karpen, Rene Romero, Kyung Mo Kim, Woo Yim Baek, Winita Hardikar, Sahana Shankar, Amin J. Roberts, Helen M. Evans, M. Kyle Jensen, Marianne Kavan, Shikha S. Sundaram, Alexander Chaidez, Palaniswamy Karthikeyan, Maria Camila Sanchez, Maria Lorena Cavalieri, Henkjan J. Verkade, Way Seah Lee, James E. Squires, Christina Hajinicolaou, Chatmanee Lertudomphonwanit, Ryan T. Fischer, Catherine Larson‐Nath, Yael Mozer‐Glassberg, Cigdem Arikan, Henry C. Lin, Jesus Quintero Bernabeu, Seema Alam, Deirdre A. Kelly, Elisa Carvalho, Cristina Targa Ferreira, Giuseppe Indolfi, Ruben E. Quiros‐Tejeira, Pinar Bulut, Pier Luigi Calvo, Zerrin Önal, Pamela L. Valentino, Dev M. Desai, John Eshun, Maria Rogalidou, Antal Dezsőfi, Sabina Wiecek, Gabriella Nebbia, Raquel Borges Pinto, Victorien M. Wolters, María Legarda Tamara, Andréanne N. Zizzo, Jennifer Garcia, Kathleen Schwarz, Marisa Beretta, Thomas Damgaard Sandahl, Carolina Jimenez‐Rivera, Nanda Kerkar, Jernej Brecelj, Quais Mujawar, Nathalie Rock, Cristina Molera Busoms, Wikrom Karnsakul, Eberhard Lurz, Ermelinda Santos‐Silva, Niviann Blondet, Luis Bujanda, Uzma Shah, Richard J. Thompson, Bettina E. Hansen, Binita M. Kamath, The Global ALagille Alliance (GALA) Study Group   +93 more
wiley   +1 more source

Isolated thrombocytopenia in pregnancy: A monocentric retrospective study of 63 pregnancies in 59 women

eJHaem
Thrombocytopenia during pregnancy is often thought to be associated with severe bleeding manifestations. Three are the main disorders associated with this condition: gestational thrombocytopenia (GT), immune thrombocytopenia (ITP), and inherited ...
Giulia Freddi, Enea Parimbelli, Federico Vai, Silvana Quaglini, Valeria Bozzi, Serena Barozzi, Fausta Beneventi, Irene De Maggio, Chiara Cavagnoli, Antonio Di Sabatino, Patrizia Noris, Federica Melazzini   +11 more
doaj   +1 more source

Metabolic and Fluid Biomarkers Support Microglia Activation in Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis is an incurable neurodegenerative disease involving motor neuron degeneration and metabolic and immune dysfunction. We combined clinical data, cerebrospinal fluid biomarkers and fluorodeoxyglucose positron emission tomography with magnetic resonance imaging to investigate the role of reactive microglia in disease ...
Matteo Zanovello, Francesca Serani, Alen Bebeti, Federica Paredi, Giulia Quadrio, Andrea Fortuna, Giacomo Maria Minicuci, Elena Pegoraro, Annachiara Cagnin, Diego Cecchin, Gianni Sorarù   +10 more
wiley   +1 more source

Serum bile acids as a prognostic biomarker in biliary atresia following Kasai portoenterostomy

Hepatology, EarlyView., 2022
Serum bile acid levels predict outcomes in patients with biliary atresia who achieve normalized bilirubin levels after Kasai portoenterostomy. Abstract Background and Aims In biliary atresia, serum bilirubin is commonly used to predict outcomes after Kasai portoenterostomy (KP).
Sanjiv Harpavat, Kieran Hawthorne, Kenneth D. R. Setchell, Monica Narvaez Rivas, Lisa Henn, Charlotte A. Beil, Saul J. Karpen, Vicky L. Ng, Estella M. Alonso, Jorge A. Bezerra, Stephen L. Guthery, Simon Horslen, Kathy M. Loomes, Patrick McKiernan, John C. Magee, Robert M. Merion, Jean P. Molleston, Philip Rosenthal, Richard J. Thompson, Kasper S. Wang, Ronald J. Sokol, Benjamin L. Shneider, for Childhood Liver Disease Research Network (ChiLDReN)   +22 more
wiley   +1 more source

Frequency and natural history of inherited bone marrow failure syndromes: the Israeli Inherited Bone Marrow Failure Registry

Haematologica, 2010
Background Inherited bone marrow failure syndromes are rare genetic disorders characterized by bone marrow failure, congenital anomalies, and cancer predisposition.
Hannah Tamary, Daniella Nishri, Joanne Yacobovich, Rama Zilber, Orly Dgany, Tanya Krasnov, Shraga Aviner, Polina Stepensky, Shoshana Ravel-Vilk, Menachem Bitan, Chaim Kaplinsky, Ayelet Ben Barak, Ronit Elhasid, Joseph Kapelusnik, Ariel Koren, Carina Levin, Dina Attias, Ruth Laor, Isaac Yaniv, Philip S. Rosenberg, Blanche P. Alter   +20 more
doaj   +1 more source

CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients

Haematologica, 2020
Congenital amegakaryocytic thrombocytopenia caused by deleterious homozygous or compound heterozygous mutations in MPL (CAMT-MPL) is a rare inherited bone marrow failure syndrome presenting as an isolated thrombocytopenia at birth progressing to ...
Manuela Germeshausen, Matthias Ballmaier
doaj   +1 more source

Inherited platelet disorders: thrombocytopenias and thrombocytopathies.

Blood transfusion = Trasfusione del sangue, 2009
Platelets play an important role in normal haemostasis halting blood flow immediately after injuries through four fundamental different mechanisms: adhesion, aggregation, secretion, and expression of procoagulant activity. First, in the presence of vascular damage, platelets adhere to the connective tissue and, particularly when the damage occurs in ...
D'ANDREA, GIOVANNA, MARGAGLIONE, MAURIZIO, CHETTA M   +2 more
openaire   +2 more sources