Profilo

Pharmacological treatment of alcohol use disorder represents an essential core of the therapeutic project in a multidisciplinary approach. While non-drug treatment is evolving, from a medical perspective few pharmacotherapies are available; in particular acamprosate, naltrexone and more recently nalmefene among anticraving drugs, disulfiram as an antidipsotropic medication. New studies are focusing on off-label drugs. Moreover, scientific evidence has to support any therapeutic indication which should be tailored on patient needs and comorbidity by considering the individual bio-psycho-social profile...

BACKGROUND: Limited data suggest that treatment with statins is associated with a reduced risk of Graves' orbitopathy (GO) in patients with Graves' disease (GD), attributed to the anti-inflammatory rather than to the hypolipemic effects of these medications. The aim of the present study was to investigate whether there is an association between high cholesterol and GO. The primary outcome was the relation between GO and low-density lipoprotein (LDL)-cholesterol. The secondary outcomes were the relation between severity or activity (the clinical activity score [CAS]) of GO and LDL-cholesterol...

Riassunto. I PARP inibitori interferiscono con la riparazione del danno nella singola elica del DNA determinando una progressione del difetto nella doppia elica. In circa il 50% delle pazienti con carcinoma dell'ovaio sieroso di alto grado sono presenti difetti nei meccanismi di ricombinazione omologa, deputati alla riparazione del danno della doppia elica del DNA. L'incapacità di riparare il danno si traduce nella morte cellulare, un processo definito "letalità sintetica". Nella famiglia dei PARP inibitori il niraparib è stato il primo a essere approvato dalla FDA nel trattamento delle pazienti con carcinoma ovarico ricorrente indipendentemente dalla presenza o assenza di mutazioni BRCA...

The solute carrier family 25 (SLC25) drives the import of a large diversity of metabolites into mitochondria, a key cellular structure involved in many metabolic functions. Mutations of the mitochondrial glutamate carrier SLC25A22 (also named GC1) have been identified in early epileptic encephalopathy (EEE) and migrating partial seizures in infancy (MPSI) but the pathophysiological mechanism of GC1 deficiency is still unknown, hampered by the absence of an in vivo model. This carrier is mainly expressed in astrocytes and is the principal gate for glutamate entry into mitochondria...

The mitochondrial aspartate-glutamate carrier isoform 1 (AGC1) catalyzes a Ca2+ -stimulated export of aspartate to the cytosol in exchange for glutamate, and is a key component of the malate-aspartate shuttle which transfers NADH reducing equivalents from the cytosol to mitochondria. By sustaining the complete glucose oxidation, AGC1 is thought to be important in providing energy for cells, in particular in the CNS and muscle where this protein is mainly expressed. Defects in the AGC1 gene cause AGC1 deficiency, an infantile encephalopathy with delayed myelination and reduced brain N-acetylaspartate (NAA) levels, the precursor of myelin synthesis in the CNS...

OBJECTIVE: Intravenous (iv) glucocorticoids (GC) (ivGC) are used for active Graves orbitopathy (GO), but factors affecting GO outcome are poorly understood. We performed a retrospective study to investigate the variables affecting GO after ivGC. METHODS: We evaluated 83 consecutive GO patients treated with ivGC but not orbital radiotherapy (ORT) and re-examined them after a median of 47 months. The endpoints were the relationships between GO outcome or additional treatments with age, sex, smoking habits, thyroid volume, thyroid treatment, time since thyroid treatment, antithyroid-stimulating hormone receptor antibodies (TRAb), GO duration, GO features, and follow-up time...

OBJECTIVE: Acute liver damage (ALD) is associated with high-dose intravenous (iv) glucocorticoid (GC) (ivGC) pulse therapy in ~1 % of patients for Graves' orbitopathy (GO). It has been proposed that statins may increase the risk of ALD. Here we investigated the frequency of ALD according to the assumption of statins in a large retrospective cohort study. METHODS: We studied 1076 consecutive patients with GO given ivGC. ALD was defined as an increase in alanine aminotransferase ≥300 U/l...

Objective Intravenous (iv) glucocorticoids (GC) (ivGC) are used for active Graves' orbitopathy (GO), but factors affecting GO outcome are poorly known. Here we performed a retrospective study aimed at investigating the variables affecting GO after ivGC. Methods We evaluated 83 consecutive GO patients treated with ivGC, but not with orbital radiotherapy, and re-examined them after a median period of 47 months. The end-points were the relation between GO outcome or additional treatments with age, gender, smoking, thyroid volume, thyroid treatment, time since thyroid treatment, TRAb, GO duration, GO features and follow-up time...

BACKGROUND: High-dose intravenous glucocorticoid (ivGC) pulse therapy, which is commonly used for Graves' orbitopathy (GO), has been associated with acute liver damage (ALD), resulting in a fatal outcome in a few cases. No certain risk factors for ALD have been established. Consequently, a large retrospective cohort study was performed. METHODS: The relationship between ALD and several potential risk factors was assessed in 1076 consecutive patients with GO given ivGC...

OBJECTIVE: Intravenous glucocorticoid (i.v.GC) pulse therapy for Graves' ophthalmopathy (GO) can be associated with acute liver damage (ALD), which was roughly estimated to occur in ∼1% of patients, with an overall mortality of 0.4%. The aim of this study was to evaluate the frequency of ALD after the introduction of a series of exclusion criteria and preventive measures. DESIGN: Retrospective evaluation of all consecutive patients candidate to i.v.GC over a period of 5 years...

OBJECTIVE: Intravenous (iv) glucocorticoids (GC) (ivGC) and orbital radiotherapy (ORT) are commonly used in active Graves' orbitopathy (GO), with favorable outcomes in up to 80% of patients. However, little is known on the factors that may affect GO outcome in the long term, an issue that we investigated here. METHODS: We studied retrospectively 96 untreated patients with GO, identified out of 787 consecutive patients who came to our GO Clinic for a follow-up visit between September 2010 and June 2013...

BACKGROUND: Clinically overt Graves' orbitopathy (GO) is associated with Graves' disease (GD) in approximately 95% of cases, whereas the remaining 5% is observed in patients with hypothyroid autoimmune thyroiditis (AT) or without overt thyroid dysfunction (euthyroid GO). However, it is not known whether there is a difference in terms of GO phenotype between patients with GD and those with hypothyroid AT or without thyroid dysfunction, and hence this is investigated here. METHODS: The study design was to evaluate retrospectively all consecutive patients with a recent manifestation of GO, seen at their first visit to a tertiary referral center over a period of 10 years...

The Vocal Activity Participation Profile (VAPP), originally developed in English, is a self-assessment tool used to measure individuals' voice activity limitation and participation restriction. Based on the fact that the cultural/linguistic adaptation is an essential step of validating a protocol in another language, the purpose was to linguistically and culturally adapt the VAPP into Italian. The adaptation was performed in accordance to the Scientific Advisory Committee of the Medical Outcomes Trust. The translation was performed by one bilingual speech-language pathologist and by one bilingual interpreter, who knew about the purpose of this project...

OBJECTIVES/HYPOTHESIS: The purpose of the study was to investigate the validity of the Profilo di Attività e Partecipazione Vocale (PAPV) and to identify the cutoff point of the total score that discriminates dysphonic from vocally healthy individuals. STUDY DESIGN: Cross-sectional, nonrandomized, prospective study with controls. METHODS: The PAPV was administered to 239 individuals, 108 with vocal complaint, 131 without vocal complaint, 141 female, 98 male, mean age of 45...

BACKGROUND: According to Rundle's curve, Graves' ophthalmopathy (GO) worsens during an initial phase up to a peak of maximum severity, then improves and reaches a static plateau, with the activity curve preceding the severity curve by a few months. To our knowledge, no studies have tried to replicate Rundle's curve, and very few have investigated the natural history of GO. Here, we studied GO natural history retrospectively and tried to identify factors that may affect it. METHODS: A total of 65 patients with untreated GO underwent an eye assessment after a median of seven months after the appearance of GO and then after a median of 40 months...

BACKGROUND: Graves' orbitopathy (GO) is thought to be related to one or more autoantigens present in the thyroid and in orbital tissues. Although this may not imply a quantitative relation between thyroid antigens and degree of GO, which in turn is a risk factor for a more pronounced GO, we postulated that the severity of GO may parallel the amount of thyroid tissue, namely, the size of the thyroid gland. This hypothesis is also based on the observation that patients with Graves' disease presenting with large goiters tend to have more severe hyperthyroidism...

Studies have shown that psychological hardiness is an important stress resilience resource for individuals. The 15-items Dispositional Resilience Scale (DRS-15) is a short, reliable and valid self-report instrument to measure hardiness that is not available in Italian. The present study was undertaken to create an Italian version of the DRS-15, and evaluate its psychometric properties and validity in the Italian context. An Italian version was produced using multiple independent bilingual translators. This version was administered to a non-clinical sample of adults (N=150), along with measure o psychological well-being (PWB-18) and health...

CONTEXT: In a previous study, we found that total thyroid ablation (thyroidectomy plus (131)I) is associated with a better outcome of Graves' orbitopathy (GO) compared with thyroidectomy alone, as observed shortly (9 months) after glucocorticoid (GC) treatment. OBJECTIVE: The objective of the study was to evaluate the outcome of GO in the same patients of the previous study over a longer period of time. DESIGN: This was a follow-up of a randomized study...

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