Decline in LDL-C control in patients with dyslipidemia treated with PCSK9-inhibitors: The role of obesity in LDL-C target achievement.

Background: Proprotein convertase subtilisin/kexin type 9 inhibitors (PCSK9-Is: alirocumab and evolocumab) have improved dyslipidemia management in patients with high cardiovascular risk. However, some patients fail to reach low-density lipoprotein cholesterol (LDL-C) targets.

Objective: To evaluate factors influencing PCSK9-I therapy effectiveness.

Lipidome of high-density lipoprotein is strongly perturbed in hyperalphalipoproteinemia resulting from a rare mutation in endothelial lipase.

Both low and extremely high concentrations of high-density lipoprotein (HDL)-cholesterol are associated with elevated cardiovascular risk. As extremely high HDL-cholesterol states of hyperalphalipoproteinemia (HALP) are rare, HDL particles in this condition remain poorly characterised. HALP may result from mutations in endothelial lipase (EL), a hydrolytic enzyme present in the circulation.

Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review.

Background: Alternating Hemiplegia of Childhood (AHC) is a severe channelopathy that manifests before 18 months of age, primarily caused by pathogenic variants in the ATP1A3 gene. It is characterized by recurrent and disabling episodes of plegia, dystonia, dysautonomia, along with chronic neurological features and cardiac arrhythmias. About 50% of AHC patients have epilepsy, and a subset of them may develop refractory or super-refractory status epilepticus.

Sustainable development goals: a call for future internal medicine.

2030 Agenda Sustainable Development Goals (SDGs) achievement is the main challenge in order to design a sustainable future society. SDG 3 ensure healthy lives and promote well-being for all at all ages, focusing on prevention and treatment of communicable diseases (CDs) and non-communicable diseases (NCDs). Moreover, access to care, affordable drugs, and vaccines is crucial to improve quality of life leaving no one behind.

Safety and effectiveness of evinacumab in an infant with homozygous familial hypercholesterolemia: A new renaissance for the very young?

The rare homozygous form of familial hypercholesterolemia (HoFH) is characterized by extremely high low-density lipoprotein (LDL) cholesterol levels, typically exceeding 13 mmol/L (500 mg/dL), and a variable phenotype that may include marked premature atherosclerotic cardiovascular disease. HoFH with null-null LDL receptor mutations can be highly resistant to standard pharmacological therapies. The standard of care treatment option is lipoprotein apheresis (LA).

Diagnosis and Screening Strategies for Detection of Familial Hypercholesterolaemia in Children and Adolescents in Italy: A Survey from the LIPIGEN Paediatric Group.

Background: Awareness, diagnosis, and treatment of familial hypercholesterolemia (FH) starting from childhood are a cornerstone of cardiovascular disease prevention. The LIPIGEN Paediatric Group, a network of specialised centres for the diagnosis and management of familial genetic dyslipidemia, is an active part of this mission.

Materials And Methods: This is the second exploratory survey organised within the LIPIGEN (LIpid transPort disorders Italian GEnetic Network) paediatric centres.

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

Importance: Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3-encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias.

Objective: To determine the impact of ATP1A3 variants on cardiac electrophysiology and whether lethal ventricular arrhythmias are associated with SUD in patients with AHC.

From Dysbiosis to Hepatic Inflammation: A Narrative Review on the Diet-Microbiota-Liver Axis in Steatotic Liver Disease.

The gut microbiota has emerged as a critical player in metabolic and liver health, with its influence extending to the pathogenesis and progression of steatotic liver diseases. This review delves into the gut-liver axis, a dynamic communication network linking the gut microbiome and liver through metabolic, immunological, and inflammatory pathways. Dysbiosis, characterized by altered microbial composition, contributes significantly to the development of hepatic steatosis, inflammation, and fibrosis via mechanisms such as gut barrier dysfunction, microbial metabolite production, and systemic inflammation.

Effect of egg consumption on health outcomes: An updated umbrella review of systematic reviews and meta-analysis of observational and intervention studies.

Aims: To evaluate the effect of egg consumption on health outcomes.

Data Synthesis: A systematic search in PubMed, Scopus, Lilacs, and Web of Science was developed using terms ("egg consumption" or "egg intake") and ("health" or "chronic diseases" or "diabetes" or "cancer" or "cholesterol" or "dyslipidemia"), and meta-analyses of observational or interventional studies published since January 2020 were included. The studies' quality was evaluated through AMSTAR-2 and NutriGrade, and the strength of evidence according to sample size, heterogeneity, and quality of articles.

Amino Acid Patterns in Children with Autistic Spectrum Disorder: A Preliminary Biochemical Evaluation.

Background: The metabolism of plasma amino acid (AA) in children with autism spectrum disorder (ASD) has been extensively investigated, yielding inconclusive results. This study aims to characterize the metabolic alterations in AA profiles among early-diagnosed children with ASD and compare the findings with those from non-ASD children.

Methods: We analyzed plasma AA profiles, measured by ion exchange chromatography, from 1242 ASD children (median age = 4 years; 81% male).

The use of the Crohn's disease exclusion diet (CDED) in adults with Crohn's disease: A randomized controlled trial.

Background: The Crohn's disease exclusion diet (CDED) has been shown to induce remission in adult Crohn's disease (CD) patients. The aim of the study is to provide additional evidence-based validation.

Methods: We conducted an open-label, randomized trial on adult CD patients with mild-to-moderate symptoms to assess CDED efficacy in inducing symptomatic remission using Mediterranean diet as control.

Predictive factors of health related quality of life in children and adolescents with celiac disease: An Italian multicenter study on behalf of the SIGENP.

Background: In pediatric patients, celiac disease (CD) may influence the health-related quality of life (HRQoL).

Aims: The study aimed to assess HRQoL and further characterise the clinical factors associated with reduced HRQoL, in a large multicenter pediatric cohort with CD.

Methods: The disease-specific questionnaire CD Dutch Questionnaire (CDDUX) and the generic questionnaire Paediatric Quality of Life Inventory (PedsQL) were used to assess the HRQoL.

Case report: A single novel calpain 3 gene variant associated with mild myopathy.

Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.

The Potential Effects of Red Wine and Its Components on Neurocognitive Disorders: A Narrative Review.

Background: The aging population is associated with a net increase in the incidence and prevalence of chronic-degenerative diseases, particularly neurocognitive disorders. Therefore, the identification of preventative strategies to restrain the burden of such chronic conditions is of key relevance. Red wine and its components have accumulated evidence regarding their positive effects in terms of neurological pathologies associated with neurocognitive symptoms.

Systematic Review and Clinical Insights: The Role of the Ketogenic Diet in Managing Glioblastoma in Cancer Neuroscience.

Recent scientific research has shown that the ketogenic diet may have potential benefits in a variety of medical fields, which has led to the diet receiving a substantial amount of attention. Clinical and experimental research on brain tumors has shown that the ketogenic diet has a satisfactory safety profile. This safety profile has been established in a variety of applications, including the management of obesity and the treatment of drug-resistant epileptic cases.

Baseline urinary osteopontin levels are associated with the improvement of metabolic syndrome.

Background And Aims: While serum osteopontin (OPN)'s established role in cardiometabolic risk is recognized, its potential as a predictor of metabolic syndrome (MetS) improvement through a urine assay has not yet been demonstrated. In this study, we propose its potential predictive role over a 12-month period of standard care, with the ability to complement anthropometric measures.

Methods And Results: Hierarchical clustering revealed a notable association of urinary OPN (uOPN) with MetS criteria and overcame anthropometric measures in predicting the improvement at 12 months (OR of 2.

Online Questionnaire with Fibromyalgia Patients Shows Negative Correlations between Disease Severity and Adherence to Mediterranean Diet.

Fibromyalgia (FM) is a multidimensional disorder in which intense chronic pain is accompanied by a variety of psychophysical symptoms that impose a burden on the patients' quality of life. Despite the efforts and the recent advancement in research, FM pathogenesis and effective treatment remain unknown. Recently, the possible role of dietary patterns and/or components has been gaining attention.

Food Intolerances, Food Allergies and IBS: Lights and Shadows.

This narrative review delves into the intricate relationship between irritable bowel syndrome (IBS) and food intolerances. IBS, a chronic functional gastrointestinal disorder, is characterized by symptoms like abdominal pain and altered bowel habits. The prevalence of IBS has increased globally, especially among young adults.

Adiponectin/leptin ratio predicts the remission of metabolic syndrome: A pilot study.

Background: Adipokines are key mediators of inflammation in metabolic syndrome perpetuating the effect of excess nutrient intake by setting a self-maintaining vicious circle. Here, we assess levels of adiponectin and leptin in a cohort of individuals with MetS undergoing dietary and behavioral counselling. Specifically, we investigate their role as predictors of metabolic syndrome remission after 1 year.

Institution of an interdisciplinary IBD centre is associated with improved healthcare utilisation.

Despite the institution of an interdisciplinary Inflammatory Bowel Disease (IBD) centre is encouraged, how it may improve patient care is still unknown. In a 5-year period following organisation of an IBD centre, hospitalisations per patient/year decreased (0.41-0.

The Real-Life Use of a Protein-Sparing Modified Fast Diet by Nasogastric Tube (ProMoFasT) in Adults with Obesity: An Open-Label Randomized Controlled Trial.

Background: Protein-sparing modified fast (PSMF) diet is a very-low-carbohydrate ketogenic diet administered to patients with obesity, which preserves lean mass and suppresses appetite as well as continuous enteral feeding. Thus, we aim to evaluate the effect of the PSMF diet administered continuously by nasogastric tube (NGT) or orally.

Methods: Patients with a body mass index (BMI) > 34.