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.

Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.

Mutations in the genes , , and cause three clinically overlapping thrombocytopenias characterized by a predisposition to hematological neoplasms. The gene, which encodes a protein involved in protein-protein interactions, is downregulated by RUNX1 during megakaryopoiesis. Mutations in 5'UTR of ANKRD26, leading to ANKRD26-RT, disrupt this regulation, resulting in the persistent expression of ANKRD26, which leads to impaired platelet biogenesis and an increased risk of leukemia.

In-Depth Phenotyping of -Related Disease and Its Role in 17q12 Genomic Disorder.

Glycosylphosphatidylinositol (GPI) biosynthesis defect 11 (GPIBD11), part of the heterogeneous group of congenital disorders of glycosylation, is caused by biallelic pathogenic variants in . This rare disorder has previously been described in only 12 patients. We report four novel patients: two sib fetuses with congenital anomalies affecting several organs, including the heart; a living girl with tetralogy of Fallot, global developmental delay, behavioral abnormalities, and atypic electroencephalography (EEG) without epilepsy; a girl with early-onset, treatment-resistant seizures, developmental regression, and recurrent infections, that ultimately passed away prematurely due to pneumonia.

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.

International multicenter validation of AI-driven ultrasound detection of ovarian cancer.

Ovarian lesions are common and often incidentally detected. A critical shortage of expert ultrasound examiners has raised concerns of unnecessary interventions and delayed cancer diagnoses. Deep learning has shown promising results in the detection of ovarian cancer in ultrasound images; however, external validation is lacking.

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. Due to the still to date limited knowledge of spHS genetics, we calculated Polygenic scores (PGS) to study the genetic underpinnings that contribute to spHS within European demographic. 256 spHS patients and 1686 healthy controls were analyzed across 6 European clinical centers.

Prevalence and outcomes of arthritis in pediatric IBD: A multicenter study from the Italian Society of Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: The aim of the present study was to assess prevalence and disease outcomes of arthritis in a nationwide cohort of pediatric patients with inflammatory bowel disease (IBD).

Methods: We collected data of pediatric IBD patients experiencing arthritis from the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition IBD registry. We gathered baseline and one-year follow-up data on concomitant IBD and arthritis diagnosis.

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.

Platelets as key cells in endometriosis patients: Insights from small extracellular vesicles in peritoneal fluid and endometriotic lesions analysis.

Endometriosis is a chronic inflammatory condition characterized by the presence of endometrium-like tissue outside the uterus, primarily affecting pelvic organs and tissues. In this study, we explored platelet activation in endometriosis. We utilized the STRING database to analyze the functional interactions among proteins previously identified in small extracellular vesicles (EVs) isolated from the peritoneal fluid of endometriosis patients and controls.

Epigenetic regulation of complement C1Q gene expression.

Human C1q is a multifaceted complement protein whose functions range from activating the complement classical pathway to immunomodulation and promoting placental development and tumorigenesis. It is encoded by the , , and genes located on chromosome 1. C1q, unlike most complement components, has extrahepatic expression by a range of cells including macrophages, monocytes and immature dendritic cells.

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.

Type I spinal muscular atrophy and disease modifying treatments: a nationwide study in children born since 2016.

Background: The advent of disease-modifying treatments (DMT) has changed natural history in 5q Spinal muscular atrophy (SMA). The aim of this study was to report survival and functional aspects in all the Italian type I children born since 2016.

Methods: The study included all symptomatic children with type I SMA born since January 1st, 2016, when DMTs became available in Italy.