Results 131 to 140 of about 432,090 (383)

Genotypic Heterogeneity of Orientia tsutsugamushi in Scrub Typhus Patients and Thrombocytopenia Syndrome Co-infection, Myanmar

Emerging Infectious Diseases, 2020
Serologic and molecular surveillance of serum collected from 152 suspected scrub typhus patients in Myanmar revealed Orientia tsutsugamushi of genotypic heterogeneity.
A. M. Win, Y. Nguyen, Yuri Kim, Na-Young Ha, Jun-Gu Kang, Hong-il Kim, B. San, Okkar Kyaw, W. W. Htike, D. Choi, Keun-Hwa Lee, Nam-Hyuk Cho   +11 more
semanticscholar   +1 more source

Extramedullary Disease—Achilles Heel in Myeloma?

American Journal of Hematology, EarlyView.
ABSTRACT Despite advances in therapy, extramedullary disease (EMD) remains an aggressive form of multiple myeloma associated with poor outcomes. Patients with true EMD, in which plasmacytomas have become completely independent of bone, have a particularly poor prognosis. The pathogenesis of EMD is driven by complex mechanisms involving loss of adhesion
Shaji Kumar, Joshua Richter, Saad Z. Usmani, Yael C. Cohen, Jing Christine Ye, María‐Victoria Mateos, Vania Hungria, Elena Zamagni   +7 more
wiley   +1 more source

Hetrombopag Added to Cyclosporine as the First‐Line Treatment for Patients With Non‐Severe Aplastic Anemia: A Phase 2 Multicenter Trial

American Journal of Hematology, EarlyView.
ABSTRACT Non‐severe aplastic anemia (NSAA) is a heterogeneous bone marrow failure syndrome with limited standardized treatment options. Cyclosporine A (CsA) monotherapy often yields suboptimal responses, highlighting an unmet clinical need for more effective therapies.
Lele Zhang, Ruonan Li, Qian Liang, Weiwang Li, Hong Pan, Zhen Gao, Liwei Fang, Jingyu Zhao, Xiao Yu, Zhexiang Kuang, Neng Nie, Jianping Li, Jinbo Huang, Xin Zhao, Meili Ge, Yizhou Zheng, Jun Li, Hong Zhang, Jun Shi   +18 more
wiley   +1 more source

Investigating thrombocytopenia in Meropenem-treated patients: a cross-sectional observational study

Future Journal of Pharmaceutical Sciences
Meropenem is frequently employed empirically to treat both single and polymicrobial infections. In clinical practice, meropenem injections have been shown to induce thrombocytopenia.
Ahmed E. Altyar, Sairah Hafeez Kamran, Hira Batool, Zikria Saleem, Noor Shahid   +4 more
doaj   +1 more source

Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. [PDF]

, 2018
Recent evidence has implicated EFL1 in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between EFL1 and the previously known causative gene SBDS accounting for the similarity in clinical features. Relatively little
Bacino, Carlos A, Bonner, Melanie J, Butler, Megan W, Cope, Heidi, Frush, Donald P, Jiang, Yong-Hui, Lachman, Ralph S, Lee, Brendan, McCall, Chad M, McDonald, Marie T, Pena, Loren DM, Pendse, Avani A, Rothman, Jennifer A, Shashi, Vandana, Spillmann, Rebecca C, Stong, Nicholas, Tan, Queenie K-G, Undiagnosed Diseases Network, Walley, Nicole   +18 more
core  

Practical guidance for the management of adults with immune thrombocytopenia during the COVID‐19 pandemic

British Journal of Haematology, 2020
This document aims to provide practical guidance for the assessment and management of patients with thrombocytopenia, with a particular focus on immune thrombocytopenia (ITP), during the COVID‐19 pandemic.
S. Pavord, J. Thachil, B. Hunt, M. Murphy, G. Lowe, M. Laffan, M. Makris, A. Newland, D. Provan, J. Grainger, Q. Hill   +10 more
semanticscholar   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

How I approach new onset thrombocytopenia

Platelets, 2020
Thrombocytopenia is a common reason for referral to hematologists in community and hospital practice. A broad differential diagnosis, combined with the potentially life-threatening nature of some presentations necessitates a rapid evaluation of the ...
Fiona Swain, Robert Bird
doaj   +1 more source