0000000000142013
AUTHOR
Jean-françois Besancenot
showing 5 related works from this author
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element
2020
OBJECTIVE Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes were reported as PFBC causative when carrying pathogenic variants. Haploinsufficiency of SLC20A2, which encodes an inorganic phosphate importer, is a major cause of autosomal-dominant PFBC. However, PFBC remains genetically unexplained in a proportion of patients, suggesting the existence of additional genes or cryptic mutations. We analyzed exome sequencing data of 71 unrelated, genetically unexplained PFBC patients with the aim to detect copy number variations that may disrupt the expression of core PFBC-causing genes. METHODS Afte…
Should mild hypogammaglobulinemia be managed as severe hypogammaglobulinemia? A study of 389 patients with secondary hypogammaglobulinemia.
2014
Although secondary hypogammaglobulinemia is more frequent than primary hypogammaglobulinemia, its etiology and management are poorly described, particularly for mild hypogammaglobulinemia.This retrospective observational study included all adult patients with a gammaglobulin level6.4g/L on serum electrophoresis identified at Dijon teaching hospital between April and September 2012. Clinico-biological features, etiologies and infectious complications were collected at inclusion and compared between group 1 (gammaglobulin5g/L, severe hypogammaglobulinemia), and group 2 (gammaglobulin6.4 and ≥5g/L, mild hypogammaglobulinemia).Among the 4011 serum electrophoreses, 570 samples from 389 patients …
A New Prognosis Score to Predict Mortality After Acute Pneumonia in Very Elderly Patients
2016
International audience; Objectives: Acute pneumonia (AP) induces an excess of mortality among the elderly. We evaluated the value of a new predictive biomarker index compared to usual prognosis scores for predicting in-hospital and 1-year mortalities in elderly inpatients with AP.Design: Retrospective study in 6 clinical departments of a university hospital.Setting: Burgundy university hospital (France).Participants: All patients aged 75 and over with AP and hospitalized between January 1 and June 30, 2013, in the departments of medicine (5) and intensive care (1) of our university hospital.Measurements: A new index, which we named UBMo, was created by multiplying the uremia (U in the formu…
Stroke associated with giant cell arteritis: a population-based study
2014
Background Giant cell arteritis (GCA) is the most common vasculitis in people ≥50 years and can be associated with stroke. We aimed to evaluate the epidemiology and characteristics of stroke in patients with GCA. Methods All patients with a biopsy-proven diagnosis of GCA were identified among residents of the city of Dijon, France (152 000 inhabitants), between 2001 and 2012 using a prospective database. Among these, patients who suffered from stroke were retrieved by crossing data from the population-based Dijon Stroke Registry. Demographics and clinical features were recorded. We considered that the stroke was GCA-related if the stroke revealed GCA or occurred between the onset of symptom…
Giant cell arteritis (Horton's disease) in very elderly patients aged 80 years and older: A study of 25 cases
2015
Aim Analysis of the characteristics of very elderly patients with giant cell arteritis (GCA). Methods Patients aged 80 years and older diagnosed with GCA in our department between 1 January 2002 and 31 July 2008 were retrospectively included. For each patient, we recorded general characteristics, reason(s) for hospitalization, specialty of the physician or department that referred the patient to us, medical history, treatment at admission, GCA clinical features, time to diagnosis of GCA, biological screening and GCA treatment. Results We analyzed 25 clinical records, 18 women and seven men with a mean age of 83.9 years. General weakness, visual loss and inflammatory syndrome were the princi…