Tommaso Toschetti

Down syndrome (DS), caused by trisomy 21, is associated with a wide spectrum of endocrine and gastrointestinal disorders that often arise early in life and significantly impact long-term health. This narrative review examines the pathophysiological mechanisms underlying these conditions, with a particular focus on their bidirectional interactions. Endocrine abnormalities in DS, including thyroid dysfunction, type 1 diabetes mellitus, growth impairment, and altered bone metabolism, occur at higher rates than in the general population and are largely driven by immune dysregulation, chronic inflammation, and gene dosage effects. Similarly, gastrointestinal disorders—ranging from congenital malformations to autoimmune conditions such as celiac disease—are highly prevalent and often present with atypical clinical features. Emerging evidence highlights the central role of gut dysbiosis, characterized by reduced microbial diversity and increased pro-inflammatory taxa, in modulating immune and metabolic pathways. This altered gut environment contributes to a chronic inflammatory state and may promote autoimmunity and endocrine dysfunction through the gut–endocrine–immune axis. Nutritional deficiencies and epigenetic factors, including microRNA dysregulation, further influence disease expression. Understanding this complex cross-talk is essential for improving clinical management. Integrated, multidisciplinary approaches and early screening strategies are crucial to optimize outcomes and guide future research in DS.

Background: Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disorder caused by mutations in the DMD gene, leading to progressive muscle degeneration, loss of ambulation, and multi-systemic complications. Beyond its impact on mobility, DMD is associated with significant endocrine and metabolic dysfunctions that develop over time. Objective: To provide a comprehensive analysis of growth disturbances, endocrine dysfunctions, and metabolic complications in DMD including bone metabolism, considering the underlying mechanisms, clinical implications, and management strategies for daily clinical guidance. Methods: In this narrative review, an evaluation of the literature was conducted by searching the Medline database via the PubMed, Scopus, and Web of Science interfaces. Results: Growth retardation is a hallmark feature of DMD, with patients exhibiting significantly shorter stature compared to their healthy peers. This is exacerbated by long-term glucocorticoid therapy, which disrupts the growth hormone/insulin-like growth factor-1 (GH/IGF-1) axis and delays puberty. Obesity prevalence follows a biphasic trend, with increased risk in early disease stages due to reduced mobility and corticosteroid use, followed by a decline in body mass index (BMI) in later stages due to muscle wasting. Metabolic complications, including insulin resistance, altered lipid metabolism, and hepatic steatosis, further characterize disease burden. Osteoporosis and increased fracture risk, primarily due to reduced mechanical loading and glucocorticoid-induced bone resorption, are major concerns, needing early screening and intervention. The RANK/RANKL/OPG signaling pathway has emerged as a critical factor in bone deterioration, providing potential therapeutic targets for improving skeletal health. Conclusions: Growth and endocrine disorders in DMD are complex and multifactorial, requiring proactive monitoring and early intervention. Addressing these issues requires a multidisciplinary approach integrating endocrine, nutritional, and bone health management. Further research is essential to refine treatment strategies that mitigate growth and metabolic disturbances while preserving overall patient well-being.

Background: Acute suppurative thyroiditis (AST) and subacute thyroiditis (SAT) are two distinct inflammatory conditions of the thyroid gland with different clinical presentation and treatment and that recognize different causes. AST is a rare but serious bacterial infection, often associated with congenital anomalies in children, whereas SAT is a self-limiting, post-viral condition that causes temporary thyroid dysfunction. Methods: A comprehensive literature review was conducted using PubMed and UpToDate, including systematic reviews, meta-analyses, case series, and case reports. Studies focusing on epidemiology, pathophysiology, clinical presentation, diagnosis, and treatment were selected, with special attention paid to pediatric cases. Results: AST accounts for fewer than 1% of thyroid diseases and is more common in children, with pyriform sinus fistulas being present in 21% of cases. It presents with fever, painful neck swelling, and complications such as abscess formation and airway obstruction. Early recognition and prompt management with broad-spectrum antibiotics, ultrasound-guided aspiration, or surgical drainage are crucial. In contrast, SAT can occur at any age but is most common in adult women and typically follows a viral infection. It presents with anterior neck pain and transient thyrotoxicosis and is generally managed with non-steroidal anti-inflammatory drugs or corticosteroids in severe cases. Accurate differential diagnosis is essential to prevent unnecessary interventions. Conclusions: Although rare, both AST and SAT require timely diagnosis and tailored treatment strategies to avoid complications. Advances in imaging and the early detection of congenital anomalies have improved AST outcomes, while SAT remains a self-limiting condition that primarily requires symptom management. Further research is needed to better understand risk factors, pathogenesis, and optimal treatment approaches, particularly in pediatric populations and resource-limited settings.

Background : Acute Suppurative Thyroiditis (AST) and Subacute Thyroiditis (SAT) are two distinct inflammatory conditions of the thyroid gland with different clinical presentation, treatment and that recognize different causes. AST is a rare but serious bacterial infection, often associated with congenital anomalies in children, whereas SAT is a self-limiting, post-viral condition that causes temporary thyroid dysfunction. Methods: A comprehensive literature review was conducted using PubMed and UpToDate, including systematic reviews, meta-analyses, case series, and case reports. Studies focusing on epidemiology, pathophysiology, clinical presentation, diagnosis, and treatment were selected, with special attention to pediatric cases. Results: AST accounts for fewer than 1% of thyroid diseases and is more common in children, with pyriform sinus fistulas being present in 21% of cases. It presents with fever, painful neck swelling, and complications such as abscess formation and airway obstruction. Early recognition and prompt management with broad-spectrum antibiotics, ultrasound-guided aspiration, or surgical drainage are crucial. In contrast, SAT can occur at any age but is most common in adult women and follows typically a viral infection. It presents with anterior neck pain and transient thyrotoxicosis and is generally managed with non-steroidal anti-inflammatory drugs or corticosteroids in severe cases. Accurate differential diagnosis is essential to prevent unnecessary interventions. Conclusions: Although rare, both AST and SAT require timely diagnosis and tailored treatment strategies to avoid complications. Advances in imaging and early detection of congenital anomalies have improved AST outcomes, while SAT remains a self-limiting condition that primarily requires symptom management. Further research is needed to better understand risk factors, pathogenesis, and optimal treatment approaches, particularly in pediatric populations and resource-limited settings.

A surgical site infection (SSI) is an infection that occurs in the incision created by an invasive surgical procedure. Although most infections are treatable with antibiotics, SSIs remain a significant cause of morbidity and mortality after surgery and have a significant economic impact on health systems. Preventive measures are essential to decrease the incidence of SSIs and antibiotic abuse, but data in the literature regarding risk factors for SSIs in the pediatric age group are scarce, and current guidelines for the prevention of the risk of developing SSIs are mainly focused on the adult population. This document describes the current knowledge on risk factors for SSIs in neonates and children undergoing surgery and has the purpose of providing guidance to health care professionals for the prevention of SSIs in this population. Our aim is to consider the possible non-pharmacological measures that can be adopted to prevent SSIs. To our knowledge, this is the first study to provide recommendations based on a careful review of the available scientific evidence for the non-pharmacological prevention of SSIs in neonates and children. The specific scenarios developed are intended to guide the healthcare professional in practice to ensure standardized management of the neonatal and pediatric patients, decrease the incidence of SSIs and reduce antibiotic abuse.