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Semin Neurol 2021 Mar 4. Epub 2021 Mar 4.

Division of Child Neurology, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Hereditary myelopathies are an important and likely underappreciated component of neurogenetic disease. While previously distinctions have been made by age of onset, the growing power and availability of high-quality neuroimaging and next-generation sequencing are increasingly expanding classical phenotypes and diminishing the utility of age-based classifications. Increasingly, cases of "atypical" disease presentations are challenging past assumptions regarding the age of onset and survival in many disorders and identifying allelic syndromes in others. Read More

Blood 2021 Mar 4. Epub 2021 Mar 4.

INSERM, Le Kremlin-Bicetre, France.

Von Willebrand disease (VWD) is characterized by its heterogeneous clinical manifestation, which complicates its diagnosis and management. The clinical management of VWD has remained essentially unchanged over the last 30 years or so, using von Willebrand factor (VWF) concentrates, desmopressin and anti-fibrinolytic agents as main tools to control bleeding. This is in contrast to hemophilia A, for which a continuous innovative path has led to novel treatment modalities. Read More

Poult Sci 2021 Jan 26;100(4):101018. Epub 2021 Jan 26.

Department of Poultry Diseases, National Veterinary Research Institute, 24-100 Puławy, Poland.

The objective of the present study was to characterize the atypical turkey coronavirus strain detected in a commercial meat turkey farm in Poland. Using the viral metagenomics approach, we obtained a complete genome sequence of coronavirus, isolated from duodenum samples of animals suffering from acute enteritis. The nearly full-length genome consisted of 27,614 nucleotides and presented a typical genetic organization similar to that of Polish infectious bronchitis virus (IBV) or French turkey coronavirus/guinea fowl coronavirus strains. Read More

Infect Genet Evol 2021 Mar 1:104778. Epub 2021 Mar 1.

Laboratory of Biology of Microorganisms, Universidade Federal do Delta do Parnaíba, Campus Ministro Reis Velloso, Parnaíba, Piauí, Brazil; Programa de Pós-graduação em Ciências Biomédicas da Universidade Federal do Delta do Parnaíba. Electronic address:

The association of polymorphisms in genes responsible for immunological mediators with dengue allows the identification of certain genetic alterations that increase or decrease the development risk of the disease. A few number of studies that correlate the interleukin 6-174 G > C (IL6-174 G > C) polymorphism (rs1800795) with dengue. However, there is an inconsistency on the polymorphism influence on the disease which motivated this meta-analysis. Read More

Int J Biochem Cell Biol 2021 Mar 1:105961. Epub 2021 Mar 1.

Centre for Rheumatology and Connective Tissue Disease, Division of Medicine, University College London, London, NW3 2PF, UK.

Connective tissue growth factor (CTGF, CCN2) is a matricellular protein which plays key roles in normal mammalian development and in tissue homeostasis and repair. In pathological conditions, dysregulated CCN2 has been associated with cancer, cardiovascular disease, and tissue fibrosis. In this study, genetic manipulation of the CCN2 gene was employed to investigate the role of CCN2 expression in vitro and in experimentally-induced models of pulmonary fibrosis and pulmonary arterial hypertension (PAH). Read More