Search results for " onset"
showing 10 items of 418 documents
Apolipoprotein E polymorphism influences not only cerebral senile plaque load but also Alzheimer-type neurofibrillary tangle formation.
1995
Only recently, evidence was provided that apolipoprotein E allele epsilon 4 located on Chromosome 19 is associated with late onset (i.e. senile) sporadic Alzheimer's disease. Histologically, Alzheimer's disease is associated with intraneuronal neurofibrillary changes and extraneuronal A4/beta-amyloid deposition. We set out with a histological staging system which considers the gradual development of Alzheimer's disease-related histological changes over time and correlates highly with the cognitive decline ante mortem. Our analysis revealed that both the mean stage for A4/beta-amyloid deposits and the mean stage for neurofibrillary tangles get significantly shifted upwards in epsilon 4-carri…
A TNF-α Promoter Polymorphism Is Associated with Juvenile Onset Psoriasis and Psoriatic Arthritis
1997
Tumor necrosis factor-α is considered to be one of the important mediators in the pathogenesis of psoriasis. A strong association of juvenile onset psoriasis with the major histocompatibility complex encoded HLA-Cw6 antigen has been reported but it is unclear whether Cw6 itself or a closely linked gene is involved in the pathogenesis. This study has focused on the association of promoter polymorphisms of the major histocompatibility complex encoded tumor necrosis factor-α gene with psoriasis and psoriatic arthritis. Tumor necrosis factor-α promoter polymorphisms were sought by sequence-specific oligonucleotide hybridization and by direct sequencing in Caucasian patients with juvenile onset …
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3.
2014
Many neurodegenerative disorders present with sensory loss. In the group of hereditary sensory and autonomic neuropathies loss of nociception is one of the disease hallmarks. To determine underlying factors of sensory neurodegeneration we performed whole-exome sequencing in affected individuals with the disorder. In a family with sensory neuropathy with loss of pain perception and destruction of the pedal skeleton we report a missense mutation in a highly conserved amino acid residue of atlastin GTPase 3 (ATL3), an endoplasmic reticulum-shaping GTPase. The same mutation (p.Tyr192Cys) was identified in a second family with similar clinical outcome by screening a large cohort of 115 patients …
Monsoon Multidisciplinary Analysis (AMMA) : an integrated project for understanding of the West African climate system and its human dimension
2011
International audience; The intraseasonal time scale is critical in West Africa where resources are highly rainfall dependent. Three main modes of variability have been identified, two with a mean periodicity of 15 days and one with a mean periodicity around 40 days. These modes have a regional scale and can strongly influence precipitation and convective activity. They are mainly controlled by atmospheric dynamics and land-surface interactions. They can also modulate the very specific phase of the African summer monsoon onset. A better knowledge of the mechanisms controlling this scale is necessary to improve its predictability.
Levothyroxine and insulin requirement in autoimmune polyglandular type 3 syndrome: a real-life study
2020
Abstract Purpose To evaluate factors influencing the insulin and levothyroxine requirement in patients with autoimmune polyglandular syndrome type 3 (APS-3) vs. patients with type 1 diabetes mellitus (T1DM) and autoimmune hypothyroidism (AH) alone, respectively. Methods Fifty patients with APS-3, 60 patients with T1DM and 40 patients with AH were included. Anthropometric, clinical and biochemical parameters were evaluated in all patients. Insulin requirement was calculated in patients with APS-3 and T1DM, while levothyroxine requirement was calculated in APS-3 and AH. Results Patients with APS-3 showed higher age (p = 0.001), age of onset of diabetes (p = 0.006) and TSH (p = 0.004) and lowe…
Does age of first cannabis use and frequency of use influence age of first-episode psychosis (FEP)?
2016
Background: Cannabis is one of the most commonly used drugs among young people across Europe (EMCDDA data 2014), Moreover, it is one of the most abused illicit drugs among patients suffering from schizophrenia (Linszen et al., 1994) and, particularly, in patients at their first episode of psychosis (Donoghue et al., 2011). Furthermore, patients suffering from psychosis with a history of cannabis use have an earlier age of onset of psychosis (AOP) than those who never used it (Di Forti et al., 2013). We aim to investigate if the reported association between use of cannabis and AOP is consistent across to European samples with expected differences in pattern of cannabis use (i.e. age at first…
Registration of childhood cancer: Moving towards pan-European coverage?
2015
Cancer is relatively rare in childhood, but it contributes considerably to childhood mortality, years of life lost per person and late effects in survivors. Large populations need to be covered to set up meaningful studies of these rare conditions. Cancer registries ensure cancer surveillance, thus providing the basis for research as well as policy decisions. In this paper we examine coverage of childhood population by cancer registries in Europe and encourage national cancer registration. Over 200 cancer registries in various stages of development were identified as collecting data on childhood cancer patients in Europe. They cover 52% of the childhood population in the World Health Organi…
Familial breast cancer in Spain: A retrospective study of family history and clinical/pathologic characteristics from the GEICAM “El Álamo III” proje…
2013
e12513 Background: Family history (FH) of breast cancer (BC), ovarian cancer (OC), and individual features (IF), like early age of onset, bilateral BC, coexistence of BC and OC, and triple negative BC (TNBC) younger than 50 years, are suspicion criteria of hereditary BC. Although it is assumed in the literature that 15-30% of BC cases can be familial BC (FBC), only 5-10% of BC are hereditary, explained by a germline mutation in BRCA1 or 2. Moreover, there is no international consensus to define FBC (e.g. number of relatives affected, age of onset), in contrast with, e.g. Lynch syndrome and Amsterdam/Bethesda criteria, in order to offer genetic counseling. In Spain, there are not population…
Cetuximab-induced skin exanthema: Improvement by a reactive skin therapy
2010
More than 80% of patients treated with cetuximab develop an acneiform follicular skin exanthema. Grade 3 exanthema develops in 9-19% of these cases, bearing the risk of cetuximab dose-reduction or cessation. We retrospectively analysed a cohort of 20 patients treated with cetuximab and an in-house reactive skin protocol upon development of an exanthema. The reactive skin protocol was built up as follows: grade 1 exanthema: topical cleansing syndet (Dermowas®) + topical metronidazole cream (Rosiced®); grade 2 exanthema: grade 1 treatment + oral minocycline 50 mg twice per day; grade 3 exanthema: grade 2 treatment + topical corticoid (Dermatop®) + topical nadifloxacin (Nadixa®). As soon as a …
Carbapenem-Susceptible OXA-23-Producing Proteus mirabilis in the French Community
2019
International audience; Nineteen Proteus mirabilis isolates producing the carbapenemase OXA-23 were recovered over a 2-year period in 19 French hospitalized patients, of whom 12 had community onset infections. The isolates exhibited a slightly reduced susceptibility to carbapenems. Whole-genome analysis revealed that all 19 isolates formed a cluster compared to 149 other P. mirabilis isolates. Because of its susceptibility to carbapenems, this clone may be misidentified as a penicillinase producer while it constitutes a reservoir of the OXA-23-encoding gene in the community.