Gianni Pes
Università di Sassari, Medicine, Surgery and Pharmacy, Faculty Member
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Research Interests: Geography and Humanities
Elevated plasma high-density lipoprotein (HDL) cholesterol levels have been regarded for decades as an important protective factor against cardiovascular disease.1 Besides their popularly known antiatherogenic effect, via modulation of... more
Elevated plasma high-density lipoprotein (HDL) cholesterol levels have been regarded for decades as an important protective factor against cardiovascular disease.1 Besides their popularly known antiatherogenic effect, via modulation of blood cholesterol trafficking, HDL cholesterol levels are directly involved in the proper functioning of many organs and tissues through activation of multiple antioxidant pathways and blunting of the inflammatory response.2 In the field of neurology, elevated plasma HDL cholesterol levels have recently been associated with a decreased risk for developing neurodegenerative diseases, including Parkinson disease (PD), although results are controversial.3
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Numerous studies on centenarians have been carried out around the world. Centenarians are the expression of exceptional individual longevity and examples of healthy ageing. Population longevity has received less interest among scientists,... more
Numerous studies on centenarians have been carried out around the world. Centenarians are the expression of exceptional individual longevity and examples of healthy ageing. Population longevity has received less interest among scientists, and even less in the media. In the framework of the activities linked to the International Database on Longevity, a population with exceptional longevity has been identified in Sardinia. The term “Blue Zone” given to an area defined as a limited region where the population shares a common lifestyle and environment and whose exceptional longevity has been accurately verified. So far, four “Blue Zones” have been identified around the world: a mountainous region of Sardinia; Okinawa in Japan; the Nicoya peninsula in Costa Rica; and the island of Ikaria in Greece. By identifying areas where people live the longest and comparing the characteristics of their inhabitants, the search for longevity determinants could be improved, as most people concerned are born and live in the same place and are therefore more likely to share the same genetic make-up, early life conditions, and traditional behaviours. The Blue Zones Community Project, an attempt to transfer the longevity lessons observed in Blue Zone populations to improve the health status and well-being of local communities in the US, is presented and discussed.
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Sardinian population experienced a late fertility transition and high level of marital fertility has been reported until the 1950’s. For the village of Villagrande in Ogliastra still involved in agro-pastoral activities with traditional... more
Sardinian population experienced a late fertility transition and high level of marital fertility has been reported until the 1950’s. For the village of Villagrande in Ogliastra still involved in agro-pastoral activities with traditional life style still prevalent, we reconstruct about one thousand completed families with mothers born between 1880 and 1965 and their children identified till 2013. The original results confirm that the natural fertility regime is prevalent till 1950 with a TFR25 of 6 children per mother. Thereafter the drop occurs in two steps, a fall to 4 children between 1952 and the end of the 50’s and a more important fall starting in 1965 till 2 children per mother. Anthropological surveys allowed identifying the main drivers of these important changes: improved well-being associated with better social security and development of the pension system, opening of the village to the external world and later the impact of compulsory education till 14 years for children that were used to help their parents. This interesting demographic and anthropological investigation is dealing with one of the last European populations where the couples that reduced their fertility are still alive
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Recent studies suggest that X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency entails a proinflammatory state that may increase the risk of several disease conditions. However, it is not clear how this relates to the degree of... more
Recent studies suggest that X-linked glucose-6-phosphate dehydrogenase (G6PD) deficiency entails a proinflammatory state that may increase the risk of several disease conditions. However, it is not clear how this relates to the degree of enzyme insufficiency and, in heterozygous females, to skewed inactivation of the X chromosome. This study aimed to (i) investigate the enzyme activity in a cohort of 232 subjects (54.3% females) from Northern Sardinia, Italy, further stratified into three subgroups (G6PD normal, partial deficiency and total deficiency); (ii) measure the levels of some non-specific inflammatory markers, such as erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and those derived from cell counts, such as neutrophil-to-lymphocyte ratio (NLR), monocyte-to-lymphocyte ratio (MLR) and platelet-to-lymphocyte ratio (PLR), in relation to the underlying molecular defect and X inactivation. G6PD activity was measured in red blood cells according to G6PD/6PGD ratio...
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Amplification and/or activation of the c-Myc protooncogene is one of the leading genetic events along hepatocarcinogenesis. The oncogenic potential of c-Myc has been proven experimentally by the finding that its overexpression in the... more
Amplification and/or activation of the c-Myc protooncogene is one of the leading genetic events along hepatocarcinogenesis. The oncogenic potential of c-Myc has been proven experimentally by the finding that its overexpression in the mouse liver triggers tumor formation. However, the molecular mechanism whereby c-Myc exerts its oncogenic activity in the liver remains poorly understood. Here, we demonstrate that the mammalian target of rapamycin complex 1 (mTORC1) cascade is activated and necessary for c-Myc dependent hepatocarcinogenesis. Specifically, we found that ablation of Raptor, the unique member of the mTORC1 complex, strongly inhibits c-Myc liver tumor formation. Also, p70S6K/ribosomal protein S6 (RPS6) and eukaryotic translation initiation factor 4E-binding protein 1/eukaryotic translation initiation factor 4E (4EBP1/eIF4E) signaling cascades downstream of mTORC1 are required for c-Myc-driven tumorigenesis. Intriguingly, microarray expression analysis revealed the upregula...
Research Interests: Nonparametric Statistics, Biology, Immunohistochemistry, Cancer Research, Apoptosis, and 15 moreMedicine, Hepatology, Signal Transduction, Humans, Mice, Animals, Hepatocellular Carcinoma, Phosphorylation, Clinical Sciences, Carcinogenesis, Sirolimus, Proportional Hazards Models, Random Allocation, Liver neoplasms, and Medical biochemistry and metabolomics
The validation of the ages of alleged centenarians is essential for scientific research in demography, genetics, epidemiology, and medicine. Age inaccuracy was often observed in past populations, and is still commonly observed today in... more
The validation of the ages of alleged centenarians is essential for scientific research in demography, genetics, epidemiology, and medicine. Age inaccuracy was often observed in past populations, and is still commonly observed today in populations without efficient civil registration. Most of alleged centenarians born before the XIX century cannot be validated and moreover JEUNE concluded that no centenarian died before 1800. In this contribution we reconsider the point with a scrupulous investigation of all alleged centenarians in Belgium and we extended the period to include all those who died before WWI. We also consider Sardinian centenarians from the same period. Based on 400 validated centenarians we characterise the survival above 100 years of age of these early centenarians. Our contribution will demonstrate that there were numerous centenarians born in the XVIII century and that their survival above 100 years was similar to the one of centenarians today.
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Villages in the island of Sardinia in the Mediterranean that display exceptional longevity are clustered within a defined mountainous region. Because of their unique location we hypothesize that these villages had a unique infectious... more
Villages in the island of Sardinia in the Mediterranean that display exceptional longevity are clustered within a defined mountainous region. Because of their unique location we hypothesize that these villages had a unique infectious disease exposure relevant to the observed successful longevity. These highland villages had a significant exposure to malaria in the first half of the 20th century after which malaria was eliminated due to vector control mechanisms. In addition, there is likely a high incidence of Helicobacter pylori infections among shepherds in Sardinia, the primary occupation of many living in the LBZ, as well as helminth infections among children. This suggests that individuals living in the LBZ had a unique infectious disease exposure. Specifically, we hypothesize that the continued high exposure of residents in the LBZ to these infectious agents prior to the 1950s lead to the generation of a uniquely trained (or imprinted) immune system. Once some of these disease...
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To evaluate whether a peculiar plasma profile of fatty acids and endocannabinoidome (eCBome)-related mediators may be associated to longevity, we assessed them in octogenarians (Old; n=42) living in the east-central mountain area of... more
To evaluate whether a peculiar plasma profile of fatty acids and endocannabinoidome (eCBome)-related mediators may be associated to longevity, we assessed them in octogenarians (Old; n=42) living in the east-central mountain area of Sardinia, a High-Longevity Zone (HLZ), compared to sexagenarian (Young; n=21) subjects from the same area, and to Olds (n=22) from the Northern Sardinia indicated as Lower-Longevity Zone (LLZ). We found significant increases in conjugated linoleic acid (CLA) and heptadecanoic acid (17:0) levels in Old-HLZ with respect to younger subjects and Old-LLZ subjects. Young-HLZ subjects exhibited higher circulating levels of pentadecanoic acid (15:0) and retinol. Palmitoleic acid (POA) was elevated in both Young and Old subjects from the HLZ. eCBome profile showed a significantly increased plasma level of the two endocannabinoids, N-arachidonoyl-ethanolamine (AEA) and 2-arachidonoyl-glycerol (2-AG) in Old-HLZ subjects compared to Young-HLZ and Old-LLZ respectivel...
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Background: The association of celiac disease (CD) with premature atherosclerosis, including increased carotid artery intima-media thickness and cardiovascular disease (CVD), is controversial. The aim of this study was to investigate this... more
Background: The association of celiac disease (CD) with premature atherosclerosis, including increased carotid artery intima-media thickness and cardiovascular disease (CVD), is controversial. The aim of this study was to investigate this relationship. Methods: Clinical records of patients from Northern Sardinia referred to the Gastroenterology section of the Department of Medicine, University of Sassari, Italy, were analyzed. Unadjusted and adjusted odds ratios (ORs) for CVD with their 95% confidence intervals (CIs) were calculated according to established risk factors, including age, sex, diabetes, dyslipidemia, overweight/obesity, blood hypertension, and cigarette smoking, as well as a possible risk factor such as H. pylori infection. Results: In a total of 8495 patients (mean age 52.1 ± 17.3 years; 64.7% females), 2504 reported a diagnosis of CVD and 632 of CD. Logistic regression analysis showed a significantly reduced risk of CVD among patients with CD (OR 0.30, 95% CI 0.22–0....
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Hepatocellular carcinoma (HCC) is a primary liver tumor with high lethality and increasing incidence worldwide. While tumor resection or liver transplantation is effective in the early stages of the disease, the therapeutic options for... more
Hepatocellular carcinoma (HCC) is a primary liver tumor with high lethality and increasing incidence worldwide. While tumor resection or liver transplantation is effective in the early stages of the disease, the therapeutic options for advanced HCC remain limited and the benefits are temporary. Thus, novel therapeutic targets and more efficacious treatments against this deadly cancer are urgently needed. Here, we investigated the pathogenetic and therapeutic role of eukaryotic initiation factor 4A1 (eIF4A1) in this tumor type. We observed consistent eIF4A1 upregulation in HCC lesions compared with non-tumorous surrounding liver tissues. In addition, eIF4A1 levels were negatively correlated with the prognosis of HCC patients. In HCC lines, the exposure to various eIF4A inhibitors triggered a remarkable decline in proliferation and augmented apoptosis, paralleled by the inhibition of several oncogenic pathways. Significantly, anti-growth effects were achieved at nanomolar concentratio...
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Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary condition caused by mutations on chromosome X and is transmitted by a sex-linked inheritance. However, impairment of G6PD activity may result from biochemical mechanisms... more
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a hereditary condition caused by mutations on chromosome X and is transmitted by a sex-linked inheritance. However, impairment of G6PD activity may result from biochemical mechanisms that are able to inhibit the enzyme in specific clinical conditions in the absence of a structural gene-level defect. In this narrative review, a number of clinical settings associated with an “acquired” G6PD deficiency, phenotypically undistinguishable from the primary deficiency, as well as the mechanisms involved, were examined. Hyperaldosteronism and diabetes are the most common culprits of acquired G6PD deficiency. Additional endocrine and metabolic conditions may cause G6PD deficiency in both hospitalized and outpatients. Contrary to the inherited defect, acquired G6PD deficiency is a condition that is potentially curable by removing the factor responsible for enzyme inhibition. Awareness regarding acquired G6PD deficiency by physicians might ...
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Over the past 50 years, the prevalence of Helicobacter pylori infection has fallen as standards of living improved. The changes in the prevalence of infection and its manifestations (peptic ulcer disease and gastric mucosal lesions) were... more
Over the past 50 years, the prevalence of Helicobacter pylori infection has fallen as standards of living improved. The changes in the prevalence of infection and its manifestations (peptic ulcer disease and gastric mucosal lesions) were investigated in a large cohort of Sardinians undergoing upper endoscopy for dyspepsia. A retrospective observational study was conducted involving patients undergoing endoscopy for dyspepsia from 1995 to 2013. H. pylori status was assessed by histology plus the rapid urease test or 13C-UBT. Gastric mucosal lesions were evaluated histologically. Data including non-steroidal anti-inflammatory drugs (NSAIDs) use and the presence of peptic ulcers were collected. The prevalence of H. pylori was calculated for each quartile and for each birth cohort from 1910 to 2000. 11,202 records were retrieved for the analysis (62.9 % women). The overall prevalence of H. pylori infection was 43.8 % (M: 46.6 % vs. F: 42.0 %; P = 0.0001). A dramatic decrease in the prev...
Background: Probiotic supplementation to antibiotic regimens against Helicobacter pylori infection has been proposed to improve eradication rate and to decrease detrimental effects on gut microbiota. Aims: To evaluate microbiota... more
Background: Probiotic supplementation to antibiotic regimens against Helicobacter pylori infection has been proposed to improve eradication rate and to decrease detrimental effects on gut microbiota. Aims: To evaluate microbiota modifications due to a low-dose quadruple therapy with bismuth or Lactobacillus reuteri. Methods: Forty-six patients infected with H. pylori were prospectively enrolled in a single-centre, randomized controlled trial to receive b.i.d. with meals for 10 days low-dose quadruple therapy consisting of rabeprazole 20 mg and bismuth (two capsules of Pylera® plus 250 mg each of tetracycline and metronidazole), or the same dose of rabeprazole and antibiotics plus Gastrus® (L. reuteri), one tablet twice-a-day for 27 days. Stool samples were collected at the enrolment, at the end and 30–40 days after the treatment. Gut microbiota composition was investigated with 16S rRNA gene sequencing. Results: Eradication rate was by ITT 78% in both groups, and by PP analysis 85.7...
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Celiac disease (CD) is characterized by a proinflammatory state associated with the production of reactive oxygen species, i.e., a condition of oxidative stress. In this study, we tested the hypothesis that the inherited deficiency of... more
Celiac disease (CD) is characterized by a proinflammatory state associated with the production of reactive oxygen species, i.e., a condition of oxidative stress. In this study, we tested the hypothesis that the inherited deficiency of glucose-6-phosphate dehydrogenase (G6PD), by causing impaired antioxidant defense, may increase the risk of CD. Methods: A retrospective monocentric case-control study was performed using the clinical records of 8338 outpatients (64.6% women) scheduled for upper endoscopy between 2002 and 2021 in Northern Sardinia. Overall, 627 were found to have CD (7.5%), and 1027 resulted to be G6PD-deficiency carriers (12.3%). Since randomization was impractical, the potential covariates imbalance between cases and controls was minimized using a 1:2 propensity-score-matched (PSM) analysis. Results: Overall, G6PD deficiency was associated with increased risk of CD (odds ratio (OR) 1.50; 95% confidence interval (CI) 1.19–1.90). The PSM procedure identified 1027 G6PD-...
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Helicobacter pylori infection has been reported to be positively associated with hypertension, although with conflicting results. In this study, the relationship between H. pylori infection and hypertension, as well as atherosclerotic... more
Helicobacter pylori infection has been reported to be positively associated with hypertension, although with conflicting results. In this study, the relationship between H. pylori infection and hypertension, as well as atherosclerotic carotid lesions, was analyzed. Methods. Clinical records of patients referred to undergo upper endoscopy and gastric biopsy were retrieved. Information regarding the presence of H. pylori infection with atrophy/metaplasia/dysplasia (interpreted as a long-lasting infection), and current or past H. pylori infection was collected, as well as demographic variables, smoking habits, body mass index (BMI), dyslipidemia, diabetes, hypertension, presence of carotid lesions, and current treatment, and analyzed by multivariable regression models. Results. A total of 7152 clinical records from patients older than 30 years (63.4% women) were available for the study. Hypertension was present in 2039 (28.5%) patients and the risk was significantly increased in those ...
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Cardiovascular disorders (CVD) are highly prevalent and the leading cause of death worldwide. Atherosclerosis is responsible for most cases of CVD. The plaque formation and subsequent thrombosis in atherosclerosis constitute an ongoing... more
Cardiovascular disorders (CVD) are highly prevalent and the leading cause of death worldwide. Atherosclerosis is responsible for most cases of CVD. The plaque formation and subsequent thrombosis in atherosclerosis constitute an ongoing process that is influenced by numerous risk factors such as hypertension, diabetes, dyslipidemia, obesity, smoking, inflammation, and sedentary lifestyle. Among the various risk and protective factors, the role of glucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common inborn enzyme disorder across populations, is still debated. For decades, it has been considered a protective factor against the development of CVD. However, in the recent years, growing scientific evidence has suggested that this inherited condition may act as a CVD risk factor. The role of G6PD deficiency in the atherogenic process has been investigated using in vitro or ex vivo cellular models, animal models, and epidemiological studies in human cohorts of variable size ...
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The relationship between eating disorders and diabetes is complex in terms of both reciprocity and comorbidity. In some cases, patients with eating disorders and diabetes develop 'purging' behaviours through the use of insulin as... more
The relationship between eating disorders and diabetes is complex in terms of both reciprocity and comorbidity. In some cases, patients with eating disorders and diabetes develop 'purging' behaviours through the use of insulin as a bodyweight control tool, with serious physical complications that can compared to those of untreated diabetes (diabulimia). The clinical cases presented have in common the distorted use of insulin: one patient failed to take the required amounts of insulin, incurring hyperglycaemia, while the other overused it, incurring hypoglycaemia. From a psychopathological point of view, both patients were diagnosed with Borderline Personality Disorder. While these are just two case reports, it is our clinical experience that female diabetic patients with eating disorders who use insulin as a tool for weight control (purging) following binge eating should be assessed for borderline personality disorder in order to tailor a more effective therapeutic approach.
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Constipation is a common complaint in older adults. The rise in life expectancy may amplify the problem and increase social expenditure. We investigated the major risk factors associated with constipation in a large sample of elderly.... more
Constipation is a common complaint in older adults. The rise in life expectancy may amplify the problem and increase social expenditure. We investigated the major risk factors associated with constipation in a large sample of elderly. Outpatients from Northern Sardinia attending a Geriatric Unit between 2001 and 2014 were enrolled. Demographic and anthropometric data, income, education and self-reported bowel function were collected. The presence of constipation was adjusted for cognitive status, assessed by the Mini-Mental State Examination (MMSE) test; single and cumulative illness rating scale (CIRS); current or past symptomatic depression and anxiety measured by the Geriatric Depression Scale (GDS); nutritional status, evaluated using the Mini-Nutritional Assessment (MNA); type and number of different medications used. 1328 elderly patients (mean age 77.7 ± 7.2 years) were enrolled. Constipation was present in 32.1%, more commonly in women (35.4% vs 28.3%) and increased with age...
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Dyspepsia is defined as symptoms related to the upper gastrointestinal tract. Approximately 25% of western populations complain of dyspeptic symptoms each year. 70% of them do not have an organic cause and symptoms are related to the... more
Dyspepsia is defined as symptoms related to the upper gastrointestinal tract. Approximately 25% of western populations complain of dyspeptic symptoms each year. 70% of them do not have an organic cause and symptoms are related to the so-called functional dyspepsia, characterized by epigastric pain, early satiety, and/or fullness during or after a meal occurring at least weekly and for at least 6 months according to ROME III criteria. In order to avoid invasive procedures and adverse effects, to minimize costs, to speed up diagnosis, and to provide the most appropriate treatments, primary care physicians need to recognize functional dyspepsia. Because symptoms do not reliably discriminate between organic and functional forms of the disease, anamnesis, family history of peptic ulcer and/or of gastric cancer, medication history, especially for nonsteroidal anti-inflammatory drugs, age, and physical examination could help the physician in discerning between functional dyspepsia and orga...
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ABSTRACT Autosomal Recessive Hypercholesterolemia (ARH) is a monogenic disorder characterized by elevated levels of LDL-cholesterol, massive tendon xanthomas and premature cardiovascular disease. The disorder has a relatively high... more
ABSTRACT Autosomal Recessive Hypercholesterolemia (ARH) is a monogenic disorder characterized by elevated levels of LDL-cholesterol, massive tendon xanthomas and premature cardiovascular disease. The disorder has a relatively high frequency in Sardinia (1:40,000), where two mutations in the ARH gene (G65A and 432insA) are responsible for all reported cases. In such population the screening of heterozygote carriers is very important for the genetic counselling and requires the availability of a rapid, reliable molecular test.Objective: to develop rapid RT-PCR tests based on TaqMan allelic discrimination system for the laboratory detection of the two common ARH mutations, both in homozygous and heterozygous subjects. Methods: Genomic DNA from previously genotyped ARH families and from 271 normal subjects was amplified with specific primers and fluorescent allele-specific probes using the ABI 7000 Sequence Detection System (Applied Biosystems). The reliability of these TaqMan assays was evaluated by comparison with the DNA sequence (ARH exons 1 and 4) in all samples. Results: the TaqMan assays identified one or two mutated alleles in all ARH patients and their first degree relatives. Moreover, we found the G65A substitution in 3 (0,55%) and the 432insA mutation in 2 (0,36%) out of 542 chromosomes from the representative sample of the Sardinian population. Conclusions: both RT-PCR TaqMan assays are simple, rapid and reliable, with a 100% concordance with DNA sequence analysis, and can be readily adaptable to the molecular characterization of patients with ARH as well as to identify ARH carriers in the general population.
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Research Interests: Genetics, Immune response, Biology, Medicine, Italy, and 15 moreAssociation study, Longevity, Humans, Haplotypes, Immune system, Linkage Disequilibrium, Amplification Refractory Mutation System, Allele, Life Span, Likelihood Functions, Allele Frequency, Haplotype, Gene frequency, Human leukocyte antigen, and Medical and Health Sciences
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Gender accounts for important differences in the incidence and prevalence of a variety of age-related diseases. Considering people of far advanced age, demographic data document a clear-cut prevalence of females compared to males,... more
Gender accounts for important differences in the incidence and prevalence of a variety of age-related diseases. Considering people of far advanced age, demographic data document a clear-cut prevalence of females compared to males, suggesting that sex-specific mortality rates follow different trajectories during aging. In the present investigation, we report data from a nationwide study on Italian centenarians (a total of 1162 subjects), and from two studies on centenarians living in two distinct zones of Italy, i.e., the island of Sardinia (a total of 222 subjects) and the Mantova province (Northern Italy) (a total of 43 subjects). The female/male ratio was about 2:1 in Sardinia, 4:1 in the whole of Italy, and about 7:1 in the Mantova province. Thus, a complex interaction of environmental, historical and genetic factors, differently characterizing the various parts of Italy, likely plays an important role in determining the gender-specific probability of achieving longevity. Gender differences in the health status of centenarians are also reported, and an innovative score method to classify long-lived people in different health categories, according to clinical and functional parameters, is proposed. Our data indicate that not only is this selected group of people, as a whole, highly heterogeneous, but also that a marked gender difference exists, since male centenarians are less heterogeneous and more healthy than female centenarians. Immunological factors regarding the age-related increase in pro-inflammatory status, and the frequency of HLA ancestral haplotypes also show gender differences that likely contribute to the different strategies that men and women seem to follow to achieve longevity. Concerning the different impact of genetic factors on the probability of reaching the extreme limits of the human life-span, emerging evidence (regarding mtDNA haplogroups, Thyrosine Hydroxilase, and IL-6 genes) suggests that female longevity is less dependent on genetics than male longevity, and that female centenarians likely exploited a healthier life-style and more favorable environmental conditions, owing to gender-specific cultural and anthropological characteristics of the Italian society in the last 100 years.
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... Luca Deiana; Rita Garuti; Giovanni Mario Pes; Ciriaco Carru; Alessandra Errigo; Marina Rolleri; Livia Pisciotta; Paola Masturzo; Alfredo ... 15. Goldfarb AW, Eliezer A, Rachmilewitz A, Eisenberg S. Abnormal low and high density... more
... Luca Deiana; Rita Garuti; Giovanni Mario Pes; Ciriaco Carru; Alessandra Errigo; Marina Rolleri; Livia Pisciotta; Paola Masturzo; Alfredo ... 15. Goldfarb AW, Eliezer A, Rachmilewitz A, Eisenberg S. Abnormal low and high density lipoproteins in homozygous beta-thalassaemia. ...
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Involvement of pyramidal cells and/or changes in excitability of brain areas remote from an ischemic stroke has been demonstrated. Since in Fabry disease (FD), specific cerebrovascular lesions are present, we thought to investigate motor... more
Involvement of pyramidal cells and/or changes in excitability of brain areas remote from an ischemic stroke has been demonstrated. Since in Fabry disease (FD), specific cerebrovascular lesions are present, we thought to investigate motor cortex excitability, using transcranial magnetic stimulation. Resting (RMT) and active (AMT) motor threshold, input-output curve (IN-OUT), central motor conduction time (CMCT), cortical silent period (cSP), short and long interval intracortical inhibition (SICI and LICI), intracortical facilitation (ICF), short interval intracortical facilitation (SICF) and short afferent inhibition (SAI) were measured in the cortical representation of the right first dorsal interosseous muscle in 11 patients with FD and 11 sex- and age matched healthy subjects. FD patients showed a significant increase of steepness in IN-OUT, ICF and SICF curves. RMT, AMT, CMCT, SICI, LICI and SAI were normal. Our data documented an increased activity of motor cortex glutamatergic excitatory circuits in FD, evident also in patients without brain MRI lesions. Following enzyme replacement treatment, this abnormality was partly reversed. We suggest that our findings are expression of subtle "biochemical brain lesions", due to an early involvement of neurons and/or astrocytes by the cascade of pathologic events leading to brain damage in FD.
Research Interests: Engineering, Neuroscience, Psychology, Biophysics, Magnetic Resonance Imaging, and 15 moreMedicine, Humans, Female, Male, Motor Cortex, Electromyography, Fabry Disease, Clinical Neurophysiology, Motor Evoked Potentials, Middle Aged, Rest, Adult, Analysis of Variance, Psychology and Cognitive Sciences, and Medical and Health Sciences
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Research Interests: Genetics, Atherosclerosis, Arterial hypertension, Apolipoproteins, Humans, and 15 moreFemale, Confidence intervals, Incidence, Clinical Sciences, Adult, Genetic Polymorphism, Familial Hypercholesterolemia, Indexation, Coronary Artery Disease, Base Sequence, Gene Expression Regulation, Case Control Studies, Cohort Studies, Cardiovascular medicine and haematology, and Environmental factor
The discovery early in this century of the exceptional longevity of the Sardinian population has given new impetus to demographic studies of this phenomenon during the classical period. In the 1970s, it was hypothesised that the average... more
The discovery early in this century of the exceptional longevity of the Sardinian population has given new impetus to demographic studies of this phenomenon during the classical period. In the 1970s, it was hypothesised that the average mortality rate in Roman Sardinia was lower than in metropolitan Rome itself, postulating an ancient precedent for the remarkable longevity observable nowadays in the island’s population. In the present study, the available evidence was examined in order to test this hypothesis. Literary, juridical, epigraphic, papyrological, anthropological and archaeological sources regarding the population of the Roman Empire, including Sardinia, were retrieved by accessing Science Direct, PubMed, Scopus and Google Scholar databases, as well as regional libraries, regardless of time limitation, and were independently reviewed by the authors. For Roman Sardinia, only funerary epitaphs were retrieved, in contrast with the numerous sources available for the whole Roma...
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The role of water hardness on human health is still debated, ranging from beneficial to harmful. Before the rise of drinking bottled water, it was a common habit to obtain supplies of drinking water directly from spring-fed public... more
The role of water hardness on human health is still debated, ranging from beneficial to harmful. Before the rise of drinking bottled water, it was a common habit to obtain supplies of drinking water directly from spring-fed public fountains. According to the geographic location, spring waters are characterized by a variable content of mineral components. In this ecological study, for the first time in Sardinia, Italy, the spatial association between spring water quality/composition and standardized mortality ratio (SMR) for coronary artery disease (CAD) in the decade from 1981 to 1991 was investigated using data retrieved from published databases. In a total of 377 municipalities, 9918 deaths due to CAD, including acute myocardial infarction (AMI), ICD-9 code 410, and ischemic heart disease (IHD), ICD-9 code 411–414, were retrieved. A conditional autoregressive model with spatially structured random effects for each municipality was used. The average SMR for CAD in municipalities wi...
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The discovery early in this century of the exceptional longevity of the Sardinian population has given new impetus to demographic studies of this phenomenon during the classical period. In the 1970s, it was hypothesised that the average... more
The discovery early in this century of the exceptional longevity of the Sardinian population has given new impetus to demographic studies of this phenomenon during the classical period. In the 1970s, it was hypothesised that the average mortality rate in Roman Sardinia was lower than in metropolitan Rome itself, postulating an ancient precedent for the remarkable longevity observable nowadays in the island’s population. In the present study, the available evidence was examined in order to test this hypothesis. Literary, juridical, epigraphic, papyrological, anthropological and archaeological sources regarding the population of the Roman Empire, including Sardinia, were retrieved by accessing Science Direct, PubMed, Scopus and Google Scholar databases, as well as regional libraries, regardless of time limitation, and were independently reviewed by the authors. For Roman Sardinia, only funerary epitaphs were retrieved, in contrast with the numerous sources available for the whole Roma...