Search results for "GENETICS"
showing 10 items of 12494 documents
Neck Pain in Fibromyalgia: Treatment with Exercise and Mesotherapy
2023
Background and Objectives: Fibromyalgia is a very common musculoskeletal disease. The purpose of this study is to assess, on a population of fibromyalgic patients, the clinical efficacy of antalgic mesotherapy with diclofenac and thiocolchicoside in the treatment of cervical pain reduction for improvement of the functional capacity and quality of life of these patients. Materials and Methods: We conducted an observational study of 78 fibromyalgia patients recruited using our hospital database. Based on the different types of treatment received, the patients were divided into two groups: the treatment group (TG), who received antalgic mesotherapy with diclofenac, thiococolchicoside, and mepi…
Translation of HTT mRNA with expanded CAG repeats is regulated by the MID1-PP2A protein complex.
2012
Expansion of CAG repeats is a common feature of various neurodegenerative disorders, including Huntington's disease. Here we show that expanded CAG repeats bind to a translation regulatory protein complex containing MID1, protein phosphatase 2A and 40S ribosomal S6 kinase. Binding of the MID1-protein phosphatase 2A protein complex increases with CAG repeat size and stimulates translation of the CAG repeat expansion containing messenger RNA in a MID1-, protein phosphatase 2A- and mammalian target of rapamycin-dependent manner. Our data indicate that pathological CAG repeat expansions upregulate protein translation leading to an overproduction of aberrant protein and suggest that the MID1-com…
Analytical model for the long- distance tracer-transport in plants
2011
International audience; Recent investigations of long-distance transport in plants using non-invasive tracer techniques such as C radiolabeling monitored by positron emission tomography (PET) combined with magnetic resonance imaging (MRI) revealed the need of dedicated methods to allow a quantitative data analysis and comparison of such experiments. A mechanistic compartmental tracer transport model is presented, defined by a linear system of partial differential equations (PDEs). This model simplifies the complexity of axial transport and lateral exchanges in the transport pathways of plants (e.g. the phloem) by simulating transport and reversible exchange within three compartments using j…
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients
2011
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. HSP is a genetically highly heterogeneous condition with at least 46 gene loci identified so far, involving X-linked, autosomal recessive (AR) and autosomal dominant inheritance. For correct diagnosis, molecular testing is essential because clinical parameters by themselves are not reliable to differentiate HSP forms. The purpose of this study was to establish amplicon-based high-throughput genotyping for AR-HSP. A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying an array-based amplification stra…
Urban forest soils harbour distinct and more diverse communities of bacteria and fungi compared to less disturbed forest soils.
2022
Anthropogenic changes to land use drive concomitant changes in biodiversity, including that of the soil microbiota. However, it is not clear how increasing intensity of human disturbance is reflected in the soil microbial communities. To address this issue, we used amplicon sequencing to quantify the microbiota (bacteria and fungi) in the soil of forests (n=312) experiencing four different land uses, national parks (set aside for nature conservation), managed (for forestry purposes), suburban (on the border of an urban area) and urban (fully within a town or city), which broadly represent a gradient of anthropogenic disturbance. Alpha diversity of bacteria and fungi increased with increasin…
Effect of seasonality on physico-chemical and microbiological properties of nicastrese milk and artisanal cheese
2021
ABSTRACT Nicastrese is an indigenous Italian goat breed reared in the Calabria region under semi-extensive practices. From January to June, the milk yield of 400 multiparous Nicastrese goats was evaluated. In addition, tank milk and ripened cheese samples were subjected to physico-chemical and microbiological analyses with the aim to assess the effect of the seasonality on quality parameters. The volatile organic compounds profile of the ripened Nicastrese cheese samples was evaluated. Results showed that the seasonality had a significant effect on milk fat, lactose, urea, citric acid contents and acidity. Microbiological analysis of tank milk samples revealed variability among the differen…
Editorial: Searching for the Boundaries of Microbial Speciation in a Rapidly Evolving World
2021
Editorial on the Research Topic.
Isolation and characterization of nuclear microsatellite loci in the northern shrimp, Pandalus borealis
2012
Published version of an article published in the journal: Conservation Genetics Resources. Also available from the publisher at: http://dx.doi.org/10.1007/s12686-011-9486-4 We developed and characterized 20 microsatellite primer loci for the northern shrimp Pandalus borealis. All 20 loci were polymorphic with number of alleles ranging from 3 to 36 and with observed heterozygosity between 0.04 and 0.93. In addition, we tested the utility of these markers in three related shrimp species, P. montagui, Atlantopandalus propinqvus and Dichelopandalus bonnieri. These new markers will prove useful in the identification of stock structure and hence, assessment of the commercially important species P…
Does the evidence matter in medicine? The retinoblastoma paradigm.
2007
Retinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mech…