A5075785437- Amyloidosis: Diagnosis, Treatment, Outcomes
- Obsessive-Compulsive Spectrum Disorders
- Peripheral Neuropathies and Disorders
- Dermatological and Skeletal Disorders
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Psychosomatic Disorders and Their Treatments
- Mental Health and Psychiatry
- Schizophrenia research and treatment
- Grief, Bereavement, and Mental Health
- Myasthenia Gravis and Thymoma
- Brain Metastases and Treatment
- Eosinophilic Disorders and Syndromes
- Cellular transport and secretion
- Pain Management and Placebo Effect
- Muscle Physiology and Disorders
- Neurotransmitter Receptor Influence on Behavior
- COVID-19 Impact on Reproduction
- Maternal Mental Health During Pregnancy and Postpartum
- Skin and Cellular Biology Research
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Parkinson's Disease and Spinal Disorders
- Empathy and Medical Education
- Personality Disorders and Psychopathology
- Pain Mechanisms and Treatments
Sapienza University of Rome
2019-2025
CTO Andrea Alesini
2024-2025
Azienda Ospedaliera Sant'Andrea
2021-2022
Abstract Background and purpose Hereditary transthyretin amyloidosis (ATTRv) is a life‐threatening disease caused by mutations in the gene encoding ( TTR ). The recent therapeutic advances have underlined importance of easily accessible, objective biomarkers both onset progression. Preliminary evidence suggests potential role this respect for neurofilament light chain (NfL). In study, aim was to determine serum NfL (sNfL) levels late‐onset ATTRv population evaluate whether it might represent...
Background/Objectives: Hereditary transthyretin-mediated amyloidosis (ATTRv) is a rare disease characterized by the deposition of amyloid in heart and peripheral nerves, particularly affecting small fibers. This study aims to evaluate autonomic cardiac involvement ATTRv. Methods: Twelve patients with ATTRv twelve sex- age-matched healthy subjects underwent 123I-mIBG scintigraphy early late heart-to-mediastinum ratio (eH/M lH/M), 99mTc-HDP bone scan scintigraphy, neurophysiological...
Hereditary transthyretin (ATTRv, v for variant) amyloidosis with polyneuropathy is a rare disease caused by mutations in the gene. In ATTRv amyloidosis, multisystem extracellular deposits of amyloid cause tissue and organ dysfunction. Patisiran small interfering RNA molecule drug that reduces circulating levels mutant wild-type TTR proteins. Prior to its regulatory approval, patisiran was available Italy through compassionate use programme (CUP). The aim this study analyse long-term outcomes...
Abstract Background Recent evidence suggests that both serum neurofilament light chain (sNfL) levels and small fiber related diagnostic variables may be valuable disease biomarkers of hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). Our study aimed to explore the relations between sNfL skin biopsy quantitative sensory testing (QST) parameters in a cohort ATTRv-PN patients pre-symptomatic carriers. Methods We retrospectively analyzed data from 13 ATTRv 21 carriers who...
Hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN) presymptomatic carriers often show preclinical abnormalities at small fiber-related diagnostic tests. However, no validated biomarker is currently available to use for carriers' follow-up, thus helping therapeutic decision making. Our study aimed assessing nerve conduction (NCS), quantitative sensory testing (QST), and skin biopsy parameters in a large cohort of late-onset ATTRv evaluate whether they correlated with predicted age...
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by myotonia and progressive muscular weakness atrophy. The aim of this study was to investigate the usefulness longitudinal muscle MRI in detecting activity progression DM1, better characterize edema, fat replacement atrophy overtime.
Abstract The aims of the present study were to 1) evaluate clinical differences between patients suffering from schizophrenia (SZ) with mild versus moderate/severe formal thought disorder (FTD); 2) explore relationships dimensions FTD, neuropsychological domains, and global functioning; 3) compare FTD in early late SZ. One hundred thirty-six individuals recruited evaluated during a nonacute phase illness. was assessed Thought, Language, Communication Scale. Partial correlations, t -tests,...
There are reports of mental health worsening during the COVID-19 pandemic. We aimed to assess whether this occurred in women who were pregnant at baseline (late 2019) and unaware pandemic, delivered after implementation restrictions threat (March-April 2020). To compare pandemic period with pre-pandemic, we capitalized on a retrospective 2014-2015 perinatal sample which had affective symptoms assessed. The COVID administered Postnatal Depression Scale (EPDS), Zung Self-Rating Anxiety (SAS),...
Research on the influence of neurocognitive factors suicide risk, regardless diagnosis, is inconsistent. Recently, risk studies propose applying a trans-diagnostic framework in line with launch Domain Criteria Cognitive Systems model. In present study, we highlight extent cognitive impairment using standardized battery psychiatric sample stratified for different degrees suicidal risk. We also differentiate our various profiles associated levels risk.We divided 106 subjects into three groups...
Pain is a common symptom of hereditary transthyretin amyloidosis (ATTRv), however, its occurrence in late-onset ATTRv has not been investigated thoroughly. Our aim was to describe the pain experience and impact on quality life (QoL) symptomatic patients presymptomatic carriers harboring (TTR) gene mutation with phenotype.Study participants (aged ≥18 years) were consecutively recruited from four Italian centers. Clinical disability assessed using Familial Amyloid Polyneuropathy (FAP) stage...
Introduction The curious effect of an increase the placebo across year publication has been shown for depression, schizophrenia, obsessive-compulsive disorder, as well some medical conditions like hypertension and pain. Objectives We aimed to observe how randomised clinical trials with a control behave at this respect in panic disorder trials. Methods searched PubMed database using strategy: (panic OR attack disorder) AND placebo, which on 3 November 2020 produced 779 records. Inclusion...