Results 91 to 100 of about 138,072 (341)

Short-term administration of JAK2 inhibitors reduces splenomegaly in mouse models of β-thalassemia intermedia and major

Haematologica, 2017
b-thalassemia is one of the most common congenital red blood cell (RBC) disorders characterized by limited bglobin synthesis and ineffective erythropoiesis. Based on the requirements for blood transfusion, the disease can be classified as non-transfusion
C. Casu, V. Presti, Paraskevi Rea Oikonomidou, L. Melchiori, O. Abdulmalik, P. Ramos, S. Rivella   +6 more
semanticscholar   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Targeting RAGE prevents muscle wasting and prolongs survival in cancer cachexia [PDF]

, 2020
Background: Cachexia, a multifactorial syndrome affecting more than 50% of patients with advanced cancer and responsible for ~20% of cancer-associated deaths, is still a poorly understood process without a standard cure available. Skeletal muscle atrophy
Chiappalupi, S., Coletti, D., Donato, R., Renga, G., Riuzzi, F., Romani, L., Sagheddu, R., Salvadori, L., Sorci, G., Vukasinovic, A.   +9 more
core   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

FOXP3+ Regulatory T Cells in Hepatic Fibrosis and Splenomegaly Caused by Schistosoma japonicum: The Spleen May Be a Major Source of Tregs in Subjects with Splenomegaly

PLoS Neglected Tropical Diseases, 2016
Schistosoma eggs cause chronic liver inflammation and a complex disease characterized by hepatic fibrosis (HF) and splenomegaly (SplM). FOXP3+ Tregs could regulate inflammation, but it is unclear where these cells are produced and what roles they play in
A. Romano, X. Hou, M. Sertorio, H. Dessein, Sandrine Cabantous, P. Oliveira, Jun Li, Sandrine Oyegue, Violaine Arnaud, Xinsong Luo, Martine Chavanieu, O. Mariani, X. Sastre, A. Dombey, Hongbin He, Yuesheng Li, A. Dessein   +16 more
semanticscholar   +1 more source

Disease Remission: A Scoping Review With Thematic Analysis of the Scientific Literature With Implications for Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Remission, a term used to describe a goal of treatment for some chronic diseases, has recently been proposed for chronic rhinosinusitis (CRS). However, it is unclear what remission means for CRS and why it should serve as a goal in the present‐day treatment of CRS.
Nikhil Parail, Lynn Warner, Stacey T. Gray, Claire Hopkins, Peter H. Hwang, Sarah K. Wise, Katie M. Phillips, Ahmad R. Sedaghat   +7 more
wiley   +1 more source

Establishment of a mouse model of propylthiouracil‐induced antineutrophil cytoplasmic antibody‐associated vasculitis

Animal Models and Experimental Medicine, EarlyView.
This graphical abstract summarizes our study in which we established a novel murine model of antineutrophil cytoplasmic antibody (ANCA)‐associated vasculitis. Neutrophil recruitment was induced using thioglycolate, followed by timed administration of propylthiouracil and phorbol 12‐myristate 13‐acetate to generate DNase I‐resistant neutrophil ...
Sakiko Masuda, Momo Uchizawa, Chihiro Terasaka, Takumi Abe, Tetsuro Nakamura, Yuka Nishibata, Yusho Ueda, Daigo Nakazawa, Utano Tomaru, Akihiro Ishizu   +9 more
wiley   +1 more source

Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic

Journal of Contemporary Medicine, 2020
Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
doaj   +1 more source

The use of K39 test in the diagnosis of visceral leishmaniasis [PDF]

, 2007
From time to time patients admitted with fever of unknown origin prove to be a diagnostic dilemma. While textbooks describe typical symptoms and signs, and also diagnostic tests, these are not always helpful.
Sciberras, Robert
core  

The SMAC mimetic LCL-161 selectively targets JAK2V617F mutant cells. [PDF]

, 2020
Background:Evasion from programmed cell death is a hallmark of cancer and can be achieved in cancer cells by overexpression of inhibitor of apoptosis proteins (IAPs).
Craver, Brianna M, Fleischman, Angela G, Huynh, Christy, Morse, Sarah J, Nguyen, Hellen, Nguyen, Jenny, Nguyen, Thanh Kim   +6 more
core