Publications by authors named "Ruffo P"

Article Synopsis
  • Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable leg sensations and an urge to move, especially during rest, but its genetic causes are not fully known.
  • Researchers conducted a large-scale study analyzing the genomes of nearly 10,000 RLS cases and over 38,000 controls, discovering 9 genetic risk loci, including one novel locus (LMX1B).
  • The findings suggest significant genetic overlaps between RLS and other conditions like neuroticism, depression, and even intelligence, advancing the understanding of RLS's genetic determinants.
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  • Multiple system atrophy (MSA) is a neurodegenerative disease that leads to symptoms like parkinsonism and ataxia, but its genetic causes are not well understood and treatment options are limited to supportive care.
  • A comprehensive study involving the whole genome sequencing of nearly 900 MSA patients and over 7,000 controls discovered four key genetic risk factors associated with the disease.
  • The research identified potential susceptibility genes and provided insights into how genetic variations influence gene expression in brain cells, offering a valuable resource for further studies on similar diseases.
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  • - The study investigates hexanucleotide repeat expansions (RE) in genes associated with amyotrophic lateral sclerosis (ALS), particularly focusing on their frequency within the Italian population and their potential link to the disorder's clinical features.
  • - Researchers screened 302 ALS patients and compared their RE distribution with that of 167 healthy controls, finding similar distributions but a moderate correlation between longer repeat lengths and certain clinical features such as age of onset and family history.
  • - This research is the first of its kind in southern Italy, revealing that while REs are present, the rare pathogenic repeats do not show a significant association with ALS, contributing valuable insights to the genetic understanding of the disorder.
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Dementia with Lewy bodies (DLB) is a common form of dementia in the elderly population. We performed genome-wide DNA methylation mapping of cerebellar tissue from pathologically confirmed DLB cases and controls to study the epigenetic profile of this understudied disease. After quality control filtering, 728,197 CpG-sites in 278 cases and 172 controls were available for the analysis.

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Article Synopsis
  • Restless legs syndrome (RLS) is a neurological condition characterized by uncomfortable leg sensations and an urge to move, especially during rest; the causes are not fully understood.
  • A study involving genome sequencing of nearly 10,000 RLS cases and almost 39,000 controls identified nine genetic risk loci, including one new locus, which contributes to understanding the genetics behind RLS.
  • The research also found correlations between RLS and other conditions like neuroticism, depression, and intelligence, suggesting that common genetic variants play a significant role in this widespread disorder.
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  • The study explores how genetics, lifestyle, and health interact to influence individual disease susceptibility among adolescents.
  • It identifies specific genetic variants linked to metabolic and inflammatory markers in a group of 77 healthy teens, finding significant associations with genes related to cholesterol metabolism and inflammation.
  • The findings suggest that genetic profiling could play a crucial role in preventing and managing chronic diseases in young people.
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  • Adiponectin, a protein secreted by fat cells, is linked to the growth and spread of ERα-positive breast cancer by promoting cell proliferation and enhancing E-cadherin expression through the ERα/LKB1 complex.
  • In lab cultures, adiponectin increases E-cadherin levels, which is crucial for cancer cell growth; when E-cadherin is silenced, the growth effects of adiponectin disappear.
  • Adiponectin treatment leads to altered cell polarity as LKB1 and Cdc42 localize in the nucleus instead of working in the cytosol, resulting in greater breast cancer growth and increased metastasis in animal models.
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  • * Research indicates that certain microRNAs (miRNAs) may be involved in ALS, showing stable expression differences between ALS patients and healthy individuals in various bodily fluids like blood and CSF.
  • * A study identified specific miRNAs, particularly miR-132-5p, miR-132-3p, miR-124-3p, and miR-133a-3p, in the plasma of ALS-affected individuals as potential biomarkers for early disease progression, emphasizing their role in diagnostics and treatment development. *
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  • * Long non-coding RNAs (lncRNAs), which are over 200 nucleotides long, are key players in gene and chromosomal expression regulation and have been linked to neurodegenerative diseases like Alzheimer's and Parkinson's.
  • * The study of lncRNAs in the central nervous system may provide diagnostic and therapeutic insights, potentially paving the way for new treatments for currently incurable neurodegenerative disorders.
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  • * A review of 62 interventional clinical trials demonstrates how multi-omics approaches are being used for patient stratification, diagnosis, and drug evaluation in MNDs.
  • * The growing application of omics sciences in MND research is poised to revolutionize diagnosis and treatment, necessitating substantial investments for effective personalized medicine evolution.
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  • Amyotrophic lateral sclerosis (ALS) is a common motor neuron disease with unclear causes, and proper genetic classification is crucial for accurate diagnosis.
  • This study focused on re-evaluating previously reported genetic variants using established ACMG-AMP criteria, leading to many variants being reclassified as likely pathogenic or pathogenic through new bioinformatics and functional analysis.
  • Findings indicate a need for expert review of genetic data in complex diseases like ALS, emphasizing that while genetic classification can aid diagnosis, clinical assessment remains essential.
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Amnestic mild cognitive impairment (aMCI) and sporadic Alzheimer's disease (AD) are multifactorial conditions resulting from a complex crosstalk among multiple molecular and biological processes. The present study investigates the association of variants localized in genes and miRNAs with aMCI and AD, which may represent susceptibility, prognostic biomarkers or multi-target treatment options for such conditions. We included 371 patients (217 aMCI and 154 AD) and 503 healthy controls, which were genotyped for a panel of 120 single nucleotide polymorphisms (SNPs) and, subsequently, analyzed by statistical, bioinformatics and machine-learning approaches.

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  • - This study investigates how genetic variations in specific genes affect lipid profiles and other health-related factors in a young, healthy population, emphasizing the significance of genetics in public health.
  • - Researchers analyzed single nucleotide polymorphisms (SNPs) and found 26 significant associations impacting lipid metabolism, glycemic profiles, and body composition linked to genes like LPL, FNDC5, and PPARγ.
  • - The findings not only confirmed previously known associations but also identified 24 new genetic variants related to lipid levels and body composition, highlighting the importance of genetic factors in health outcomes.
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  • Next Generation Sequencing (NGS) allows for the detailed analysis of RNA from various samples, enhancing our understanding of the transcriptomic profiles related to complex diseases such as neurodegenerative disorders.
  • Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease marked by the loss of motor neurons, often lacks specific diagnostic criteria, making biomarker research critical for quicker and more accurate diagnoses.
  • This review focuses on the role of non-coding RNAs (like circRNAs, miRNAs, and lncRNAs) in ALS, emphasizing the need for further studies to identify these molecules as potential biomarkers for diagnosis and prognosis in ALS and related neurodegenerative diseases.
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Epigenetics is characterized by molecular modifications able to shape gene expression profiles in response to inner and external stimuli. Therefore, epigenetic elements are able to provide intriguing and useful information for the comprehension and management of different human conditions, including aging process, and diseases. On this subject, Age-related Macular Degeneration (AMD) represents one of the most frequent age-related disorders, dramatically affecting the quality of life of older adults worldwide.

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  • Age-related macular degeneration (AMD) shares common processes and risk factors with neurodegenerative disorders (NDDs), prompting research into genetic determinants that link the two.
  • A study involving 400 AMD patients identified 23 specific genetic variants (SNPs) associated with AMD risk, revealing potential genetic contributions to both AMD and NDDs.
  • The findings suggest shared mechanisms like oxidative stress and inflammation between AMD and NDDs, proposing that identified SNPs could serve as biomarkers for early diagnosis and treatment in aging populations.
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Background: Chemotherapy-induced nausea and vomiting (CINV) is a distressing side effect that can negatively impact patients' quality of life and could discourage completion of chemotherapy, thereby affecting overall treatment outcomes. Although adherence to antiemetic guidelines can reduce CINV incidence in patients receiving highly or moderately emetogenic chemotherapy, CINV control remains inadequate.

Aims: The objectives of this survey were to determine oncologists' practice patterns in CINV management, identify factors that contribute to antiemetic treatment failure, and determine the outcomes of uncontrolled CINV on health care resource utilisation and on patients' attitude towards chemotherapy.

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Background: The objective was to evaluate the cost-effectiveness of NEPA, an oral fixed combination netupitant (NETU, 300 mg) and palonosetron (PA, 0.5 mg) compared with aprepitant and palonosetron (APPA) or palonosetron (PA) alone, to prevent chemotherapy-induced nausea and vomiting (CINV) in patients undergoing treatment with highly or moderately emetogenic chemotherapy (HEC or MEC) in the UK.

Scope: A systematic literature review and meta-analysis were undertaken to compare NEPA with currently recommended anti-emetics.

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Background: chemotherapy-induced nausea and vomiting (CINV) has been commonly reported as one of the most distressing adverse effects among treated patients with cancer. Inadequately treated, CINV can lead to increased resource utilization and severely impair patients' daily functioning and quality of life. Direct costs include acquisition cost of antiemetic drugs and rescue medication, administration devices, add-on treatments, such as hydration, and additional patient care, that is, nursing and physician time, unscheduled office visits, emergency room admissions, and, in some cases, extended hospitalization or readmission.

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Background: Most of the studies on the identification of cardiovascular risk factors have been conducted either in northern Europe or in the United States. However, genetic as well as dietary factors may vary across different countries and geographical areas and there are few data about the cardiovascular risk profile in our country.

Methods: A sample of 3144 subjects (1463 males, 1681 females aged 35-74 years) were randomly selected among the population qualifying for healthcare assistance, registered with 170 general practitioners.

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Background: Many studies have indicated the adequate use of lipid-lowering drugs (LLDs) as a factor in reducing the risk of cardiovascular disease. However, in clinical practice, a very high percentage of patients are not adequately treated.

Objective: To analyze the management of hypercholesterolemia in a non-experimental setting and to estimate the factors associated with poor adherence to treatment.

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Introduction: acromegalic therapeutic goals are directed at removing the tumor, preventing tumor re-growth and reducing long-term morbidity and mortality. In this scenario, the acromegalic patient needs a variety of health resources (diagnostic tests, surgery, radiotherapy, specialist visits and drugs) for his/her cure, in order to decrease/stop the progression of the disease and to cure the co-morbid diseases. Lack of epidemiological data has suggested performing an Italian retrospective study aiming to assess the health resource consumption that is caused by acromegalic cure and the relative co-morbidities, in order to estimate the amount of the direct costs of acromegalic patients.

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This review collects together data concerning the measurement of patient behavior towards antihypertensives, considering all its aspects - adherence, persistence and switching. The wide heterogeneity of terms, outcome definitions and methods of assessment (the multiplicity of approaches did not allow a full meta-analysis, but a qualitative description of the results) are demonstrated. The percentages of adherence/compliance from the studies discussed in this review range from 15 to 99% across different study designs, populations and methods.

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Aim: The Pandora Project is a longitudinal database--implemented by general practitioners since June 1997 in the Ravenna area (Italy)--providing information on patients with hypertension. Data from 1,651 patients were followed up for I year in order to investigate the cost of hypertension. Only direct medical costs were considered in the perspective of the National Healthcare System.

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BACKGROUND: Depression is one of the most ancient and common diseases of the human race and its burden on society is really impressive. This stems both from the epidemiological spread (lifetime prevalence rate, up to 30 years of age, was estimated as greater than 14.4% by Angst et al.

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