De Novo Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review.

Pathogenic variants in , encoding dynamin-like protein-1 (DRP1), cause a lethal encephalopathy. DRP1 defective function results in altered mitochondrial networks, characterized by elongated/spaghetti-like, highly interconnected mitochondria. We validated in yeast the pathogenicity of a de novo variant identified by whole exome sequencing performed more than 10 years after the patient's death.

Expanding the Molecular Spectrum of Missense Variants: Clinical Insights and Literature Review.

Background/objectives: The failure of physiological left-right (LR) patterning, a critical embryological process responsible for establishing the asymmetric positioning of internal organs, leads to a spectrum of congenital abnormalities characterized by laterality defects, collectively known as "heterotaxy". biallelic variants have recently been associated with heterotaxy syndrome and congenital heart defects (CHD). However, the genotype-phenotype correlations and the underlying pathogenic mechanisms remain poorly understood.

Transition-related outcomes among a cohort of patients with juvenile idiopathic arthritis.

A major goal in juvenile idiopathic arthritis (JIA) long-term management is to ensure a successful transition to adult age. This study aims to assess transition outcomes in a group of JIA patients during their passage from pediatric to adult healthcare assistance at a single center. This is a cross-sectional study.

Long-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.

Long-acting growth hormones (LAGHs) represent a significant advancement in the treatment of pediatric growth hormone deficiency (GHD), offering an alternative to daily recombinant human growth hormone (rhGH) therapy. Traditional rhGH treatments, while effective, require daily injections, often leading to poor adherence due to the frequency of dosing, injection pain, and difficulties with storage and travel. In contrast, LAGHs, such as somatrogon, somapacitan, and lonapegsomatropin, are designed for once-weekly administration, improving patient compliance and quality of life.

Food Protein-Induced Allergic Proctocolitis: Real-World Experience from an Italian Cohort.

: Food protein-induced allergic proctocolitis (FPIAP) is a non-IgE-mediated food allergy, usually presenting as bloody stools in breastfed, well-appearing, and regularly growing infants. The aim of our study was to describe the clinical features of Italian infants affected by FPIAP and their management and natural history in a real-life setting. : A retrospective, observational study was performed at two tertiary pediatric hospitals (Florence and Trieste), including FPIAP-diagnosed infants between 2012 and 2022.

Lifestyle Factors Associated with Children's and Adolescents' Adherence to the Mediterranean Diet Living in Mediterranean Countries: The DELICIOUS Project.

Traditional dietary patterns are being abandoned in Mediterranean countries, especially among younger generations. This study aimed to investigate the potential lifestyle determinants that can increase adherence to the Mediterranean diet in children and adolescents. This study is a cross-sectional analysis of data from five Mediterranean countries (Italy, Spain, Portugal, Egypt, and Lebanon) within the context of the EU-funded project DELICIOUS (UnDErstanding consumer food choices & promotion of healthy and sustainable Mediterranean Diet and LIfestyle in Children and adolescents through behavIOUral change actionS).

Beyond the Norm: The emerging interplay of complement system and extracellular matrix in the tumor microenvironment.

Ground-breaking awareness has been reached about the intricate and dynamic connection between developing tumors and the host immune system. Being a powerful arm of innate immunity and a functional bridge with adaptive immunity, the complement system (C) has also emerged as a pivotal player in the tumor microenvironment (TME). Its "double-edged sword" role in cancer can find an explanation in the controversial relationship between C capability to mediate tumor cell cytolysis or, conversely, to sustain chronic inflammation and tumor progression by enhancing cell invasion, angiogenesis, and metastasis to distant organs.

Natural Compounds Targeting Thymic Stromal Lymphopoietin (TSLP): A Promising Therapeutic Strategy for Atopic Dermatitis.

Atopic dermatitis (AD) is a chronic inflammatory skin disease with rising prevalence, marked by eczematous lesions, itching, and a weakened skin barrier often tied to filaggrin gene mutations. This breakdown allows allergen and microbe entry, with thymic stromal lymphopoietin (TSLP) playing a crucial role by activating immune pathways that amplify the allergic response. TSLP's central role in AD pathogenesis makes it a promising therapeutic target.

The role of umbilical vein blood flow assessment in the prediction of fetal growth velocity and adverse outcome: a prospective observational cohort study.

Background: Identifying fetal growth restriction and distinguishing it from a constitutionally small fetus can be challenging. The umbilical vein blood flow is a surrogate parameter of the amount of oxygen and nutrients delivered to the fetus, providing valuable insights about the function of the placenta. Nevertheless, currently, this parameter is not used in the diagnosis and management of fetal growth restriction.

At First Sight: Fetal Eye Movements Reveal a Preference for Face-Like Configurations From 26 Weeks of Gestation.

Previous research indicates that both adults and newborns show enhanced electrophysiological and behavioral responses to schematic face-like configurations (FCs-three dots composing a downward-pointing triangle), as compared to the inverted configurations (ICs). Even fetuses, when exposed to light stimuli projected through the uterine wall, preferentially orient their heads toward FCs rather than ICs. However, when this effect emerges along the third trimester of pregnancy and in relation to the maturation of which brain structures is still unknown.

The diabetes mellitus comorbidity index in European Union member states based on the 2019 European Health Interview Survey.

Multiple chronic conditions reduce the quality of life and increase healthcare needs for people with diabetes mellitus (DM). This study aims to describe the prevalence of comorbidities associated with DM in the European Union (EU) at national and sub-national levels and to assess the utility of a comorbidity burden index. The study was carried out using microdata from European Health Interview Survey 2019 including adults aged 25 and older with DM from 26 EU member states (n = 20,042).

Polygenic Score: A Tool for Evaluating the Genetic Background of Sporadic Hidradenitis Suppurativa.

Sporadic hidradenitis suppurativa (spHS) is a multifactorial disease in which genetic predisposition is intertwined with environmental factors. Owing to the still-to-date limited knowledge of spHS genetics, we calculated polygenic scores (PGSs) to study the genetic underpinnings that contribute to spHS within European demographic. A total of 256 patients with spHS and 1686 healthy controls were analyzed across 6 European clinical centers.

Quality of care at childbirth during the COVID-19 pandemic in Belgium: a cross-sectional study based on WHO standards.

Objectives: To examine quality of maternal and newborn care (QMNC) around childbirth in facilities in Belgium during the COVID-19 pandemic and trends over time.

Design: A cross-sectional observational study.

Setting: Data of the Improving MAternal Newborn carE in the EURO region study in Belgium.

Upper airway obstructive events on noninvasive ventilation in NMD adolescents.

Home noninvasive ventilation (NIV) is expanding worldwide for pediatrics and is mainly indicated to treat nocturnal alveolar hypoventilation. Nasal mask is the most common interface used in children, but oronasal mask may be indicated in case of excessive mouth leaks or facial weakness. Obstructive events caused by the oronasal mask have been reported in a few studies on adult patients, but never in pediatrics.

Exploiting O-GlcNAc dyshomeostasis to screen O-GlcNAc transferase intellectual disability variants.

O-GlcNAcylation is an essential protein modification catalyzed by O-GlcNAc transferase (OGT). Missense variants in OGT are linked to a novel intellectual disability syndrome known as OGT congenital disorder of glycosylation (OGT-CDG). The mechanisms by which OGT missense variants lead to this heterogeneous syndrome are not understood, and no unified method exists for dissecting pathogenic from non-pathogenic variants.

Time-efficient strategies in human iPS cell-derived pancreatic progenitor differentiation and cryopreservation: advancing towards practical applications.

Background: Differentiation of patient-specific induced pluripotent stem cells (iPS) helps researchers to study the individual sensibility to drugs. However, differentiation protocols are time-consuming, and not all tissues have been studied. Few works are available regarding pancreatic exocrine differentiation of iPS cells, and little is known on culturing and cryopreserving these cells.

Monochorionic Pregnancy Complicated by Selective Intrauterine Fetal Death and Severe Anemia of the Co-Twin: The Role of Intrauterine Transfusion - Systematic Review of the Literature.

Introduction: The management of selective intrauterine demise in monochorionic pregnancies has high rates of adverse outcomes in the surviving co-twin. One of the complications might be severe anemia. The aim of this systematic review was to evaluate the role of intrauterine transfusion in case of selective intrauterine fetal death in monochorionic pregnancies with the surviving co-twin diagnosed with severe anemia.

Previous binaural experience supports compensatory strategies in hearing-impaired children's auditory horizontal localization.

This study investigates auditory localization in children with a diagnosis of hearing impairment rehabilitated with bilateral cochlear implants or hearing aids. Localization accuracy in the anterior horizontal field and its distribution along the angular position of the source were analyzed. Participants performed a localization task in a virtual environment where they could move their heads freely and were asked to point to an invisible sound source.

The proline-rich antimicrobial peptide B7-005: low bacterial resistance, safe for human cells and effective in zebrafish embryo bacteraemia model.

Proline-rich antimicrobial peptides (PrAMPs) have gained attention due to their antimicrobial properties and low cytotoxicity. B7-005, a small optimized PrAMP, exhibits a broader spectrum of activity than native PrAMPs, due to an antimicrobial mechanism based on inhibiting prokaryotic protein synthesis and destabilizing bacterial membranes. However, the toxicity and the efficacy of B7-005 remain poorly understood, so and microbiology and toxicology experiments were used to assess its suitability as an anti-infective agent.