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.

A Qualitative Study of Adult Protective Services Practitioners Responding to Allegations of Elder Abuse and Self-Neglect.

Adult Protective Services (APS) practitioners play an essential role in supporting older adults experiencing elder abuse and self-neglect (EASN), however, very little research has examined their experiences, from their perspectives. The purpose of this study was to examine the experiences of APS practitioners responding to allegations of EASN. Qualitative interviews were conducted with APS practitioners ( = 14) from the state of Maine.

cladode as fermentation feedstock for lactic acid production by LA 5.

cladodes are by-products which contain high amounts of fibres, bioactive and functional compounds. Given their high annual productivity per hectare, cladodes represent a cheap and suitable substrate, usable for fermentation processes. We investigated their potential as a substrate for the growth and production of lactic acid from Lactobacillus acidophilus LA-5.

Polyphenols from Mediterranean Plants: Biological Activities for Skin Photoprotection in Atopic Dermatitis, Psoriasis, and Chronic Urticaria.

Polyphenols are a diverse class of natural compounds that are widely distributed in various fruits, vegetables, and herbs. They possess antioxidant and anti-inflammatory properties and bring benefits in the prevention and treatment of various diseases. Studies suggested that polyphenols may improve cardiovascular health and may have neuroprotective effects.

Case Report: Decrypting an interchromosomal insertion associated with Marfan's syndrome: how optical genome mapping emphasizes the morbid burden of copy-neutral variants.

Optical genome mapping (OGM), which allows analysis of ultra-high molecular weight (UHMW) DNA molecules, represents a response to the restriction created by short-read next-generation-sequencing, even in cases where the causative variant is a neutral copy-number-variant insensitive to quantitative investigations. This study aimed to provide a molecular diagnosis to a boy with Marfan syndrome (MFS) and intellectual disability (ID) carrying a translocation involving chromosomes 3, 4, and 13 and a 1.7 Mb deletion at the breakpoint of chromosome 3.

Gourmet Table Salts: The Mineral Composition Showdown.

Table salts with their specialty flake size, textures, flavors, and colors can be considered a gastronomy niche food already increasing in demand worldwide. Being unrefined, they can contain trace elements potentially both healthy and toxic. In this study, 12 mineral elements (Al, Ca, Co, Cr, Cu, Fe, Hg, Mn, Ni, Pb, Se, and Zn) in 10 different salts commercially available in southern Italy namely, Atlantic grey, Baule volante, Guerande, Hawaiian pink, Hawaiian black, Himalayan pink, Maldon, Mozia, Persian blue, and smoked salts were analyzed by inductively coupled plasma mass spectrometry (ICP-MS) and thermal decomposition amalgamation-atomic absorption spectrophotometry (TDA-AAS).

Effect of an elder abuse and self-neglect intervention on repeat investigations by adult protective services: RISE project.

Background: Adult Protective Services (APS) is the primary agency responsible for investigating elder abuse and self-neglect (EASN) allegations in the United States. The harms of EASN are well established; however, APS lacks a conceptually derived evidenced-based intervention phase. RISE is a community-based intervention designed to complement APS that provides enhanced services and a longer intervention phase.

Quantitative Detection of Viable but Nonculturable in Frozen Bivalve Molluscs.

is a foodborne pathogen diffusely distributed in the marine environment and often isolated from raw seafood belonging to different species, mostly shellfish. Ingestion of under- or uncooked seafood contaminated by can cause severe gastrointestinal symptoms in humans. Due to its ability to withstand low temperatures, spp.

Use of Motivational Interviewing by Advocates in the Context of an Elder Abuse Response Intervention: The RISE Project.

Purpose: Despite the increasing number of elder abuse and self-neglect (EASN) cases, many older adults are reluctant to engage with formal support services, such as Adult Protective Services (APS). This study examined the use of motivational interviewing (MI) by advocates, as a component of a larger EASN intervention, RISE (epair Harm, nspire Change, upport Connection, mpower Choice), implemented in partnership with APS. Advocates applied MI as part of RISE to help clients explore and resolve ambivalence around pursuing change and ultimately enhance service engagement.

Behavior of Endotracheal Tube Cuff Pressure During a Routine Control Maneuver With Different Manometers.

Background: The main functions of the endotracheal tube (ETT) cuff are to prevent aspiration and to allow pressurization of the respiratory system. For this purpose, it is essential to maintain adequate pressure inside the cuff, thus reducing the risks for the patient. It is regularly checked using a manometer and is considered the best alternative.

Natural Pigments Production and Their Application in Food, Health and Other Industries.

In addition to fulfilling their function of giving color, many natural pigments are known as interesting bioactive compounds with potential health benefits. These compounds have various applications. In recent times, in the food industry, there has been a spread of natural pigment application in many fields, such as pharmacology and toxicology, in the textile and printing industry and in the dairy and fish industry, with almost all major natural pigment classes being used in at least one sector of the food industry.

Age-Related Diseases and Foods Generating Chlorinative Stress.

Background: Aging is a slow and inexorable process affecting all life beings and is characterised by age-related worsening in adaptation to external changes. Several factors contribute to such a process, and oxidative stress due to external damages is one key player. Of particular interest is the oxidative stress generated from halogen compounds such as chloride.

Statin therapy may protect against acute kidney injury in patients hospitalized for interstitial SARS-CoV2 pneumonia.

Background And Aims: COVID-19-associated acute kidney injury (AKI) represents an independent risk factor for all-cause in-hospital death in patients with COVID-19. Chronic statin therapy use is highly prevalent in individuals at risk for severe COVID-19. Our aim is to assess whether patients under treatment with statins have a lower risk of AKI and in-hospital mortality during hospitalization for interstitial SARS-CoV2 pneumonia.

A qualitative evaluation of the "RISE" elder abuse intervention from the perspective of adult protective services caseworkers: addressing a service system gap.

Our understanding of effective elder abuse (EA) response interventions is limited. Adult Protective Services (APS), the primary agency responsible for responding to EA, lacks a coherent, conceptually driven, prolonged intervention phase. Informed by an ecological-systems perspective and adapting evidence-based modalities from other fields, the RISE EA intervention addresses this APS systems gap.

Bioactive natural products in donkey and camel milk: a perspective review.

Mammalian milk has numerous components that exhibit chemical and functional activities. They support human homeostasis. Immunoglobulins, peptides with antibacterial and antimicrobial activities, carbohydrates, lipids, and minor molecules have positive effects on health.

Schwann Cells Induce Phenotypic Changes in Oral Cancer Cells.

Head and neck cancer (HNC) is the seventh most common cancer worldwide, the majority being oral squamous cell carcinoma. Despite advances in cancer diagnosis and treatment, the survival rate of patients with HNC remains stagnant. The cancer-nerve interaction has been recognized as an important driver of cancer progression.

Case Report: A Novel Homozygous Missense Variant of Supporting It Is a New Candidate Gene Causative of a Bardet-Biedl Syndrome-Like Phenotype.

Fibrillin proteins are extracellular matrix glycoproteins assembling into microfibrils. , , and encode the human fibrillins and mutations in and cause connective tissue disorders called fibrillinopathies, affecting cardiovascular, dermal, skeletal, and ocular tissues. Recently, mutations of the less characterized fibrillin family member, , have been associated in a single family with Bardet-Biedl syndrome (BBS).

RISE: A Conceptual Model of Integrated and Restorative Elder Abuse Intervention.

Despite a growing number of elder abuse (EA) cases nationwide, response programs such as adult protective services (APS) lack a defined, prolonged intervention phase to address these complex situations. This article presents RISE, a model of EA intervention that works alongside APS or other systems that interact with at-risk older adults. Informed by an ecological-systems perspective and adapting evidence-based modalities from other fields (including motivational interviewing, teaming, restorative justice, and goal attainment scaling), the RISE model intervenes at levels of the individual older adult victim, individual harmer, their relationship, and community to address EA risk and strengthen systems of support surrounding the victim-harmer dyad.