Small Complex Rearrangement in -Related Axonal Neuropathy.

Background: Autosomal recessive inherited pathogenetic variants in the histidine triad nucleotide-binding protein 1 () gene are responsible for an axonal Charcot-Marie-Tooth neuropathy associated with neuromyotonia, a phenomenon resulting from peripheral nerve hyperexcitability that causes a spontaneous muscle activity such as persistent muscle contraction, impaired relaxation and myokymias.

Methods: Herein, we describe two brothers in whom biallelic variants were identified following a multidisciplinary approach.

Results: The younger brother came to our attention for clinical evaluation of moderate intellectual disability, language developmental delay, and some behavioral issues.

Blue Bounty: Italy's Dual-Use Solution for Crab Invasion, Nutritional Value, Safety, and Valorization.

In the past few years, non-native blue crab has been expanding its range in the Adriatic and Mediterranean Seas. However, when non-indigenous species establish a lasting presence in a novel ecosystem and actively expand into other regions, posing potential risks to local biodiversity and economic harm, they are classified as invasive species. For this study, two different batches of blue crabs were collected: one from the Mediterranean Sea and the other from the Adriatic coast area.

Impact of high-flow oxygen therapy via high velocity nasal insufflation on diaphragmatic thickening fraction in healthy subjects.

Objective: The primary objective of this study was to evaluate the impact of high-flow nasal cannula oxygen therapy [HFNC] on the diaphragm thickening fraction.

Design: Prospective, descriptive, cohort study SETTING: The study was conducted in the Physiology and Respiratory Care Laboratory, Intensive Care Unit, Hospital Británico de Buenos Aires.

Participants: Thirteen healthy subjects >18 years old INTERVENTIONS: High-flow nasal cannula oxygen therapy MAIN VARIABLES OF INTEREST: Demographic data (age and gender), anthropometric data (weight, height, and body mass index), and clinical and respiratory variables (Diaphragm thickening fraction [DTf], esophageal pressure swing, respiratory rate [RR], esophageal pressure-time product per minute [PTPes/min]).

Development of a Chitosan-Based Film from Shellfish Waste for the Preservation of Various Cheese Types during Storage.

The global concern about the use of disposable plastics has fed the research on sustainable packaging for food products. Among the virtuous materials, chitosan emerges as a valid alternative to conventional polyethylene films because of its abundance in nature. In this work, a novel film for food wrapping was developed by exploiting shellfish waste according to a vision of circular economy.