Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? [PDF]
Background: Gaucher disease (GD) and primary myelofibrosis (PMF) share similar clinical and laboratory features, such as cytopenia, hepatosplenomegaly, and marrow fibrosis, often resulting in a misdiagnosis.
Cardarelli, L+5 more
core +1 more source
Clinical presentation of splenomegaly at Kigali University Teaching Hospital, Rwanda - A retrospective descriptive study [PDF]
INTRODUCTION: Splenomegaly is a common condition in malaria endemic region and is frequently associated with cytopenias. Splenomegaly is usually a clinical finding, but imaging studies have helped to assess for or confirm it.
E. Nkusi+7 more
doaj
In primary myelofibrosis, extra-domain A fibronectin (EDA-FN), the result of alternative splicing of FN gene, sustains megakaryocyte proliferation and confers a pro-inflammatory phenotype to bone marrow cell niches. In this work we assessed the levels of
Alessandro Malara+6 more
doaj +1 more source
Epidemiology of Malaria in an Area Prepared for Clinical Trials in Korogwe, North-eastern Tanzania. [PDF]
Site preparation is a pre-requesite in conducting malaria vaccines trials. This study was conducted in 12 villages to determine malariometric indices and associated risk factors, during long and short rainy seasons, in an area with varying malaria ...
Acleus S Rutta+33 more
core +3 more sources
Challenges in the diagnosis of gaucher disease with multiple splenic lesions
The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient
Ahmad Alshomar
doaj +1 more source
Splenomegaly segmentation using global convolutional kernels and conditional generative adversarial networks [PDF]
Spleen volume estimation using automated image segmentation technique may be used to detect splenomegaly (abnormally enlarged spleen) on Magnetic Resonance Imaging (MRI) scans.
Yuankai Huo+9 more
semanticscholar +1 more source
Contemporary management of pain in cirrhosis: Toward precision therapy for pain
Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman+4 more
wiley +1 more source
Presenting signs and patient co-variables in Gaucher disease : outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative [PDF]
© 2018 The Authors. Internal Medicine Journal by Wiley Publishing Asia Pty Ltd on behalf of Royal Australasian College of Physicians.Background: Gaucher disease (GD) presents with a range of signs and symptoms.
Belmatoug , N+24 more
core +6 more sources
A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan+19 more
wiley +1 more source
Epidemiology of malaria in the Taabo health and demographic surveillance system, south-central Côte d'Ivoire [PDF]
A deep understanding of the local epidemiology of malaria is essential for the design and implementation of setting-specific control and elimination efforts.
Adiossan, Lukas G.+10 more
core +2 more sources