Rome in Egypt

Resoconto del sito web Rome in Egyp

Rome in Egypt. Egyptian Antiquities in Indian Museums

Prodotto multimedial

A laboratory study to evaluate the agronomic utilization of industrial lump sulphur by-product in alkaline soil

A laboratory experiment was carried out to investigate the possible utilization of lump sulphur coming from petroleum desulphurization in reducing pH of soils at high alkalinity reaction, as substitute of commercial elemental sulphur. An alkaline soil (pH = 8.37) was added with different amounts of lump sulphur (So) equivalent to 0, 1, 2.5, 5 and 10 t ha-' and modifications induced on chemical and biochemical parameters such as pH, EC, sulphur oxidation, total (TOC) and extractable (TEC) organic carbon, microbial biomass-C content (MBC-content), soil basal respiration, arylsulphatase (ArS-ase), o-diphenoloxidase (0-DPO) activities and total hydrolytic activity (FDA-hydrolysis). were monitored. Changes in soil microbial community was also investigated. Results showed that lump sulphur oxidative capacity of soil strictly depends on soil moisture level. As a consequence of sulphur oxidation soil pH decreased until a minimum value of 7.68, at the highest dose of lump sulphur added, within60 days of incubation. Significant increases of soil EC were also observed within 120 days. No significant changes in ArS-ase, o-DPO activities and FDA-hydrolysis were observed, while basal respiration indicated an initial stress suffered by the soil microbial community as consequence of sulphur addition. A shift in the microbial community towards sulphur-oxidizing bacteria was also observed in all sulphur treated soils

Movement disorders in a family carrying ATP7A variant

Objective: To report an early onset parkinsonism in a family carrying a pathogenic variant in the ATP7A gene. Background: ATP7A variants cause Menkes disease (MD), a rare X-linked recessive disorder mainly affecting males with onset in the first three month of life. Classical manifestations include regression of motor functions, seizures, pili torti and vascular tortuosity. The ATP7A protein is a copper transporter which carries copper outside enterocytes; thus, the MD phenotype probably results from reduced activity of copper-depending enzymes. A few affected females have been reported [1], most of them presenting an attenuated phenotype. Method: Clinical assessment, Sanger sequencing. Results: We report an Italian family carrying a pathogenic variant in the ATP7A gene. The proband, a 49-years-old woman, presented intellectual disability and epilepsy. She developed asymmetric parkinsonism with rest and postural tremor at 48 age, non-responsive to levodopa. Ceruloplasmin, serum and urinary copper were repeatedly normal. Brain MRI showed a high signal intensity of bilateral globus pallidus on T2-weighed images. The maternal grandmother and the mother were reported to be affected by tremor. Two brothers died for MD in early childhood. One 54-year-old sister developed non-levodopa-responsive parkinsonism with atypical tremor at 51 age. Brain SPECT showed bilateral asymmetric reduced uptake. Another 50-years-old sister is developing initial asymmetric parkinsonism. A third 43-years-old sister was not examined. All four sisters shared the ATP7A heterozygous intronic variant c.1946+5G>C. This variant has been previously reported in MD male patients [2], [3] and was shown to result in out-of-frame mRNA lacking exon 8 and premature protein truncation (p.Ser624MetfsX35). Conclusion: We describe the association between a pathogenic variant in the ATP7A gene and early-onset parkinsonism in females from an Italian family with MD. We suggest that ATP7A haploinsufficiency may result in dysregulation of copper metabolism in basal ganglia. Whole exome sequencing and an X-inactivation assay are in progress to further understand the contribution of this variant to the parkinsonian phenotype

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts. In this study we searched for pathogenic variants in RAB39B in two Italian families affected by X-linked early-onset Parkinsonism and Intellectual Disability

Ascertainment bias in dementias: a secondary to tertiary centre analysis in Central Italy and conceptual review

BACKGROUND AND AIMS: Ascertainment bias (AB) indicates a bias of an evaluation centre in estimating the prevalence/incidence of a disease due to the specific expertise of the centre. The aim of our study was to evaluate classification of different types of dementia in new cases appearing in secondary and tertiary centres, in order to evidence possible occurrence of AB in the various (secondary to tertiary) dementia centres. METHODS: To assess the mechanism of AB, the rates of new cases of the different forms of dementia reported by different centres were compared. The centres involved in the study were 11 hospital-based centres including a tertiary centre, located in the University Department of Clinical Neurology. The tertiary centre is endowed with state-of-the-art diagnostic facilities and its scientific production is prominently focused on dementia with Lewy bodies (DLB) thus suggesting the possible occurrence of a bias. Four main categories of dementia were identified: Alzheimer's disease (AD), DLB, fronto-temporal dementia (FTD), vascular dementia (VaD), with other forms in a category apart. The classification rate of new cases of dementia in the tertiary centre was compared with rates reported by secondary centres and rates of recoding were calculated during a follow-up of 2 years. RESULTS: The study classified 2,042 newly diagnosed cases of dementia in a population of 1,370,000 inhabitants of which 315,000 were older than 65. AD was categorized in 48-52 % of cases, DLB in 25-28 %, FTD in 2-4 % and VaD in 17-28 %. During the 2-year follow-up the diagnosis was re-classified in 40 patients (3 %). The rate of recoding was 5 % in the tertiary centre, 2-8 % in referrals from secondary to tertiary centre, 2-10 % in recodings performed in secondary centres and addressed to tertiary centre. Recoding or percentages of new cases of AD or DLB were not different in the comparison between secondary or between secondary and tertiary centres. FTD and VaD were instead significantly recoded. CONCLUSION: The results of the study suggest that in a homogeneous area, AB is not interfering with diagnosis of AD or DLB