Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12314
Abstract: TANGO2 disease is a severe inherited disorder associating multiple symptoms such as metabolic crises, encephalopathy, cardiac arrhythmias, and hypothyroidism. The mechanism of action of TANGO2 is currently unknown. Here, we describe a cohort of 20… read more here.
Keywords: metabolic crises; triggers metabolic; disease; clinical biological ... See more keywords
Clinical and biological data on the use of hydroxychloroquine against SARS‐CoV‐2 could support the role of the NLRP3 inflammasome in the pathogenesis of respiratory disease
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Medical Virology"
DOI: 10.1002/jmv.26217
Abstract: The use of hydroxychloroquine (HCL) has been very common in countries with a rapid spread of coronavirus disease 2019 (COVID-19), although controversial and the subject of heated scientific discussions with implications for the whole society.… read more here.
Keywords: data use; use hydroxychloroquine; disease; clinical biological ... See more keywords
Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients
Sign Up to like & getrecommendations! Published in 2021 at "Annals of Hematology"
DOI: 10.1007/s00277-020-04360-4
Abstract: SF3B1 is a highly mutated gene in myelodysplastic syndrome (MDS) patients, related to a specific subtype and parameters of good prognosis in MDS without excess blasts. More than 40% of MDS patients carry at least… read more here.
Keywords: biological prognostic; clinical biological; mds patients; mds ... See more keywords
Clinical and Biological Factors Associated With Recurrences of Severe Toxoplasmic Retinochoroiditis Confirmed by Aqueous Humor Analysis.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of ophthalmology"
DOI: 10.1016/j.ajo.2018.11.013
Abstract: PURPOSE To investigate clinical and biological factors influencing recurrences of severe toxoplasmic retinochoroiditis (TRC) confirmed by aqueous humor analysis. DESIGN Retrospective case series. METHODS Retrospective analysis of 87 subjects with severe TRC, proven by positive… read more here.
Keywords: biological factors; recurrences severe; analysis; aqueous humor ... See more keywords
Treatment resistant schizophrenia: Clinical, biological, and therapeutic perspectives
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2018.08.016
Abstract: Treatment resistant schizophrenia (TRS) refers to the significant proportion of schizophrenia patients who continue to have symptoms and poor outcomes despite treatment. While many definitions of TRS include failure of two different antipsychotics as a… read more here.
Keywords: schizophrenia; treatment resistant; resistant schizophrenia; treatment ... See more keywords
Clinical and biological significance of thymopoietin-α in gastric cancer
Sign Up to like & getrecommendations! Published in 2019 at "Annals of Oncology"
DOI: 10.1093/annonc/mdz343.038
Abstract: Abstract Background Gastric cancer (GC) is one of the most common malignancies in the world, yet little is known about the molecular process of its development and progression. In this study, we investigated the involvement… read more here.
Keywords: thymopoietin; gastric cancer; tmpo expression; clinical biological ... See more keywords
Response to ‘A clinical and biological review of keratoacanthoma’: reply from authors
Sign Up to like & getrecommendations! Published in 2021 at "British Journal of Dermatology"
DOI: 10.1111/bjd.20835
Abstract: We appreciate the interest of the authors in our review of keratoacanthoma (KA).1 They raise several points that were discussed in our manuscript. First, they suggest that the histopathological differentiation from KA and well-differentiated squamous… read more here.
Keywords: biological review; reply authors; review keratoacanthoma; clinical biological ... See more keywords
Clinical, biological, and outcome features of P2RY8‐CRLF2 and CRLF2 over‐expression in pediatric B‐cell precursor acute lymphoblastic leukemia according to the CCLG‐ALL 2008 and 2018 protocol
Sign Up to like & getrecommendations! Published in 2023 at "European Journal of Haematology"
DOI: 10.1111/ejh.13948
Abstract: CRLF2 alterations are associated with B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL). This study aimed to explore the clinical, biological, and outcome features of pediatric BCP‐ALL with CRLF2 abnormalities. read more here.
Keywords: crlf2; clinical biological; cell precursor; precursor acute ... See more keywords
Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria
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DOI: 10.1111/hae.14579
Abstract: The incidence of afibrinogenemia had not been previously reported in Algeria. Afibrinogenemia patients are prone to both haemorrhagic and thrombotic complications. Predictive markers of thrombosis in afibrinogenemia patients are not existent. read more here.
Keywords: clinical biological; biological genetic; afibrinogenemia patient; genetic features ... See more keywords
Antiphospholipid syndrome in patients over 65 years: A comparative study of clinical and biological features and thrombotic relapses
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DOI: 10.1177/09612033221130975
Abstract: Objective The aim of the study was to describe clinical and biological characteristics and thrombotic relapses of patients diagnosed with antiphospholipid syndrome (APS) after the age of 65 years, in comparison with patients diagnosed with… read more here.
Keywords: clinical biological; patients diagnosed; antiphospholipid syndrome; thrombotic relapses ... See more keywords
Myelodysplastic Syndromes with Isolated 20q Deletion: A New Clinical-Biological Entity?
Sign Up to like & getrecommendations! Published in 2018 at "Blood"
DOI: 10.1182/blood-2018-99-117069
Abstract: Deletion of the chromosome 20 long arm (del20q) has been reported in 3-7% of patients with Myelodysplastic Syndromes (MDS). In particular, isolated del20q seems to be associated with good prognosis, low risk of progression to… read more here.
Keywords: myelodysplastic syndromes; risk; biological entity; del20q ... See more keywords