Results 61 to 70 of about 13,796 (248)

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

Inherited thrombocytopenias in the era of personalized medicine

Haematologica, 2015
Until 15 years ago, inherited thrombocytopenias (ITs) were quite an indistinct group of disorders, only a few forms of which had been clearly defined. Moreover, the genetic defect was known for only two disorders: Bernard-Soulier syndrome (BSS) and Wiskott Aldrich syndrome (WAS).
NORIS, PATRIZIA, BALDUINI, CARLO
openaire   +4 more sources

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

Arthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino, Yanjie Hao, Dylan Hansen, Yi‐Hsing Chen, Alberta Hoi, Vera Golder, Jiacai Cho, Aisha Lateef, Worawit Louthrenoo, Laniyati Hamijoyo, Shue Fen Luo, Yeong‐Jian Jan Wu, Sandra Navarra, Leonid Zamora, Chak Sing Lau, Shirley Chan, Zhanguo Li, Hai‐hong Yao, Sargunan Sockalingam, B. M. D. B. Basnayake, Yasuhiro Katsumata, Masayoshi Harigai, Zhuoli Zhang, Jun Kikuchi, Yuko Kaneko, Tsutomu Takeuchi, Madelynn Chan, Sang‐Cheol Bae, Fiona Goldblatt, Sean O'Neill, Geraldine Hassett, Kristine Ng, Nicola Tugnet, Mark Sapsford, Yih Jia Poh, Michael Tee, Cherica Tee, Naoaki Ohkubo, Yoshiya Tanaka, Rangi Kandane‐Rathnayake, Eric Morand, Shereen Oon, Mandana Nikpour   +42 more
wiley   +1 more source

ANKRD26 Gene Mutation and Thrombocytopenia—Is the Risk of Malignancy Dependent on the Mutation Variant?

Hematology Reports
Background and Clinical Significance: Inherited thrombocytopenia (IT) is a heterogeneous group of disorders caused by mutations in over 45 genes. Among these, ANKRD26-related thrombocytopenia (ANKRD26-RT) accounts for a notable subset and is associated ...
Eirik B. Tjønnfjord, Kristian Tveten, Signe Spetalen, Geir E. Tjønnfjord   +3 more
doaj   +1 more source

Discordance Between Systemic Lupus Erythematosus Disease Activity Index Domain Weights and Their Association With Organ Damage Accrual

Arthritis Care &Research, EarlyView.
Objective Studies of damage accrual in patients with systemic lupus erythematosus (SLE) show associations with disease activity measured by the SLE Disease Activity Index 2000 (SLEDAI‐2K), but these associations are imperfect. SLEDAI scores are powerfully influenced by weightings (1–8) assigned to each domain.
Kevin Zhang, Eric F. Morand, Sarah E. Boyd, François Petitjean, Alberta Hoi, Rachel Koelmeyer, Iolanda Miceli, Julie A. Monk, Hieu T. Nim   +8 more
wiley   +1 more source

A case of familial X-linked thrombocytopenia with a novel gene mutation [PDF]

Korean Journal of Pediatrics, 2013
Wiskott-Aldrich syndrome (WAS) is an inherited X-linked disorder. The WAS gene is located on the X chromosome and undergoes mutations, which affect various domains of the WAS protein, resulting in recurrent infection, eczema, and thrombocytopenia ...
Eu Kyoung Lee, Yeun-Joo Eem, Nack-Gyun Chung, Myung Shin Kim, Dae Chul Jeong   +4 more
doaj   +1 more source

Lessons in platelet production from inherited thrombocytopenias [PDF]

British Journal of Haematology, 2014
SummaryOur knowledge of the cellular and molecular mechanisms of platelet production has greatly expanded in recent years due to the opportunity to culturein vitromegakaryocytes and to create transgenic animals with specific genetic defects that interfere with platelet biogenesis.
PECCI, ALESSANDRO, BALDUINI, CARLO
openaire   +3 more sources

Impact of Six‐Month Monitoring Compared to Three‐Month Monitoring of Laboratories During Methotrexate Therapy

Arthritis Care &Research, EarlyView.
Objective To evaluate whether extending the American College of Rheumatology–recommended monitoring interval for complete blood count and liver function tests in patients receiving methotrexate (MTX) affects timely detection of medication‐related toxicity.
Spencer Simko, Ray Zhang, Sohini Mukherjee, Puneet Bajaj, Bonnie L. Bermas   +4 more
wiley   +1 more source

Successful management of neonatal alloimmune thrombocytopenia in the second pregnancy: a case report

Einstein (São Paulo)
Neonatal alloimmune thrombocytopenia is a serious disease, in which the mother produces antibodies against fetal platelet antigens inherited from the father; it is still an underdiagnosed disease.
Fabiana Mendes Conti, Sergio Hibner, Thiago Henrique Costa, Marcia Regina Dezan, Maria Giselda Aravechia, Ricardo Antonio D’Almeida Pereira, Andrea Tiemi Kondo, Élbio Antônio D’Amico, Mariza Mota, José Mauro Kutner   +9 more
doaj   +1 more source

Wiskott–Aldrich syndrome in a child presenting with macrothrombocytopenia

Platelets, 2017
Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive disease resulting from variants in the WAS gene, characterized by a triad of immunodeficiency, eczema, and thrombocytopenia. Despite the fact that WAS is traditionally differentiated from immune
Jose Maria Bastida, Monica Del Rey, Nuria Revilla, Rocio Benito, Martin Perez-Andrés, Berta González, Susana Riesco, Kamila Janusz, Jose Padilla, Ana Hortal Benito-Sendin, David Bueno, Elena Blanco, Maria Hernández-Rivas, Vicente Vicente, Jose Rivera, Ramon González-Porras, Maria Luisa Lozano   +16 more
doaj   +1 more source