Search results for "ONSET"
showing 10 items of 496 documents
Gender-related effect of clinical and genetic variables on the cognitive impairment in multiple sclerosis
2004
BACKGROUND: Cognitive impairment may occur at any time during the course of multiple sclerosis (MS), and it is often a major cause of disability in patients with the disease. The APOE-epsilon4 allele is the major known genetic risk factor for late onset familial and sporadic Alzheimer's Disease (AD), and it seems to be implicated in cognitive decline in normal elderly persons. OBJECTIVE: To investigate the clinical and genetic variables that can be associated with the cognitive decline in patients with MS. METHODS: Five-hundred and three patients with clinically definite MS underwent a battery of neuropsychological tests and, according to the number of failed tests, were divided into cognit…
An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.
2011
This paper addresses a tenet of the literature on APOE, i.e., the relationship between the effects of the e4, one of the established genetic risk factor for Alzheimer's disease (AD), and its expression levels as determined by APOE promoter polymorphisms. Five polymorphisms (-491 rs449647, -427 rs769446, -219 rs405509, and e rs429358-rs7412) were studied in 1308 AD patients and 1082 control individuals from the Central-Northern Italy. Major findings of the present study are the following: 1) the variants -219T and e4 increase the risk for late onset AD (LOAD) when they are both present in cis on the same chromosome (in phase); 2) the correlation between the haplotype (-219T/e4) and AD risk p…
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.
The onset of the rainy season and farmers’ sowing strategy for pearl millet cultivation in Southwest Niger
2011
A multi-year (2004-2009) field survey of on-farm sowing practices in 10 villages located in south-west Niger close to Niamey, is analysed to investigate the relationships (i) between rainfall and the sowing date of pearl millet and the risk of sowing failure, (ii) between sowing and meteorological/agro-climatic onset dates, (iii) between sowing/onset dates, and simulated and observed yield/biomass at the end of the season. Even if some villages sow without any synchronous or anterior rainfall, most parcels (73% out of the 1551 available cases) are sown during and just after a 2-day wet spell receiving at least 10 mm. In fact, there is a strong correlation (r = 0.82-0.95 depending on onset d…
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoG…
2019
This multicenter/multinational, open-label, ascending-dose study (NCT01898364) evaluated safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat-dose avalglucosidase alfa (neoGAA), a second-generation, recombinant acid α-glucosidase replacement therapy, in late-onset Pompe disease (LOPD). Patients ≥18 years, alglucosidase alfa naïve (Naïve) or previously receiving alglucosidase alfa for ≥9 months (Switch), with baseline FVC ≥50% predicted and independently ambulatory, received every-other-week avalglucosidase alfa 5, 10, or 20 mg/kg over 24 weeks. 9/10 Naïve and 12/14 Switch patients completed the study. Avalglucosidase alfa was well-tolerated; no deaths…
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…