A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.

Background: The nondystrophic myotonias are rare muscle hyperexcitability disorders caused by gain-of-function mutations in the SCN4A gene or loss-of-function mutations in the CLCN1 gene. Clinically, they are characterized by myotonia, defined as delayed muscle relaxation after voluntary contraction, which leads to symptoms of muscle stiffness, pain, fatigue, and weakness. Diagnosis is based on history and examination findings, the presence of electrical myotonia on electromyography, and genetic confirmation.

Development of Riluzole Analogs with Improved Use-Dependent Inhibition of Skeletal Muscle Sodium Channels.

Several commercially available and newly synthesized riluzole analogs were evaluated in vitro as voltage-gated skeletal muscle sodium-channel blockers. Data obtained from the patch-clamp technique demonstrated that potency is well correlated with lipophilicity and the introduction of a protonatable amino function in the benzothiazole 2-position enhances the use-dependent behavior. The most interesting compound, the 2-piperazine analog of riluzole (), although slightly less potent than the parent compound in the patch-clamp assay as well as in an in vitro model of myotonia, showed greater use-dependent Nav1.

Anti-Angiogenic Activity of Drugs in Multiple Myeloma.

Angiogenesis represents a pivotal hallmark of multiple myeloma (MM) that correlates to patients' prognosis, overall survival, and drug resistance. Hence, several anti-angiogenic drugs that directly target angiogenic cytokines (i.e.

Drug repurposing in skeletal muscle ion channelopathies.

Skeletal muscle ion channelopathies are rare genetic diseases mainly characterized by myotonia (muscle stiffness) or periodic paralysis (muscle weakness). Here, we reviewed the available therapeutic options in non-dystrophic myotonias (NDM) and periodic paralyses (PP), which consists essentially in drug repositioning to address stiffness or weakness attacks. Empirical use followed by successful randomized clinical trials eventually led to the orphan drug designation and marketing authorization granting of mexiletine for NDM and dichlorphenamide for PP.

Integrated approach for legionellosis risk analysis in touristic-recreational facilities.

Legionellosis is a severe pneumonia caused by the inhalation of aerosols containing Legionella, Gram-negative bacteria present in the water systems of touristic-recreational facilities. The purpose of this study was to develop a scoring tool to predict the risk of both environmental contamination and Legionnaires' disease cases in such facilities in the Apulia region of southern Italy. We analyzed 47 structural and management parameters/risk factors related to the buildings, water systems, and air conditioning at the facilities.

First Detection of Severe Acute Respiratory Syndrome Coronavirus 2 on the Surfaces of Tourist-Recreational Facilities in Italy.

A Coronavirus disease (COVID-19), caused by a new virus called severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), spreads via direct contact through droplets produced by infected individuals. The transmission of this virus can also occur via indirect contact if objects and surfaces are contaminated by secretions from individuals with COVID-19 or asymptomatic carriers. Environmental contamination with SARS-CoV-2 is high in hospital settings; on the contrary, surface contamination in non-healthcare settings is still poorly studied.

Occurrence of Fungi in the Potable Water of Hospitals: A Public Health Threat.

Since the last decade, attention towards the occurrence of fungi in potable water has increased. Commensal and saprophytic microorganisms widely distributed in nature are also responsible for causing public health problems. Fungi can contaminate hospital environments, surviving and proliferating in moist and unsterile conditions.

Legionella and legionellosis in touristic-recreational facilities: Influence of climate factors and geostatistical analysis in Southern Italy (2001-2017).

Legionella is the causative agent of Legionnaires' disease, a flu-like illness normally acquired following inhalation or aspiration of contaminated water aerosols. Our recent studies revealed that climatic parameters can increase the number of reported cases of community-acquired Legionnaires' disease. Here, we evaluated the presence of Legionella in water networks and the distribution of Legionnaires' disease cases associated with touristic-recreational facilities in the Apulia region (southern Italy) during the period 2001-2017 using geostatistical and climatic analyses.