An uncommon case of neonatal asphyxia associated with infantile-onset Pompe disease.

Background: Pompe disease, also known as glycogenosis type II or acid maltase deficiency, is an autosomal recessive disease caused by a deficiency of alpha-glucosidase. The severity depends mainly on the type of mutation, which in turn determines early or late onset; therapy modifies the outcome but does not alter the severity of the disease at presentation.

Case Presentation: We present a case report of a male infant, inborn and delivered at a gestational age of 39 weeks.

Clozapine-induced cardiac toxicity and successful rechallenge in children and adolescents: a systematic review and new case report.

Treatment-resistant schizophrenia and bipolar disorder represent first-line indications for clozapine prescription in children and adolescents, who display treatment-resistance significantly more often than adults. However, titrating clozapine up to reach an effective dose may become impossible if serious adverse events occur, forcing drug discontinuation. Here we systematically review all articles available in PubMed regarding clozapine-associated cardiac toxicity in children and adolescents, primarily including myocarditis and pericarditis, and focus on the feasibility of clozapine rechallenge after drug discontinuation.

Changes in Coping Strategies of Parents and Girls with Central Precocious Puberty Before and After the COVID-19 Lockdown: Data from Four Italian Pediatric Endocrinology Centers.

The increased stress during the COVID-19 pandemic may have influenced the coping strategies used by children and parents who adapted to a diagnosis of central precocious puberty (CPP). This study aimed to explore whether the coping mechanisms of parents and their daughters diagnosed with CPP differed before and after the COVID-19 lockdown and if certain factors could be associated with these mechanisms. Specific questionnaires were completed by 174/524 girls with CPP enrolled at four different pediatric endocrinology centers in Italy.

Pediatric Acute Mastoiditis: Which Factors Influence CT Scan Prescription and Surgical Intervention? A Multivariate Analysis.

BACKGROUND: The aim of this study is to investigate factors associated with computed tomography (CT) scan prescription and surgical intervention in pediatric patients with acute mastoiditis (AM). METHODS: Children with AM admitted to Modena University Hospital over a 10-year period were retrospectively divided into 3 groups: those who did not undergo a CT scan nor surgery (Group A); those who underwent a CT scan but not surgery (Group B); and those who underwent CT scan and surgery (Group C). A multivariate analysis was performed to determine possible differences among groups in terms of clinical and laboratory variables.

Pediatric non-alcoholic Wernicke's encephalopathy: a case report.

Wernicke-Korsakoff syndrome is a neurological disorder caused by thiamine (vitamin B1) deficiency. This encephalopathy is typically suspected in alcoholics adults, but it is important to remember that other less known and suspected causes can determine the development of the non-alcoholic Wernicke's encephalopathy. In non-alcoholic patients, the primary causes of Wernicke's encephalopathy include hyperemesis gravidarum, restrictive diets and malnutrition, cancer, post-operative complications following bariatric surgery.

International Consensus Guideline on the Diagnosis and Management of Endocrine Complications of β and α Thalassemia in Children and Adolescents.

β thalassemia (βT) and α thalassemia (αT) are chronic hemolytic anemias caused by hereditary defects in the β or α chains of hemoglobin, respectively. According to the clinical picture, both forms of thalassemia are subdivided into minor, intermedia, or major. Previous guidelines focused on growth and endocrine dysfunctions in βT major, where the complications reported are consequences of iron toxicity.

Mometasone Furoate-Induced Iatrogenic Cushing's Syndrome and Secondary Adrenal Insufficiency: A Case Report.

Intranasal corticosteroids (INCS) are widely used to treat allergic rhinitis and nasal obstruction. While their safety profile is generally well established, both local and systemic side effects can occur. While it is well-known that a chronic exposure to systemic glucocorticoid treatment could determine Cushing's syndrome (CS) and suppression of the hypothalamic-pituitary-adrenal (HPA) axis, there is less awareness when the administration is topical or intranasal.

Use of gonadotropin-releasing hormone agonists in transgender and gender diverse youth: a systematic review.

Introduction: Puberty suppression using gonadotropin-releasing hormone agonists (GnRHa) is a reversible medical intervention that halts endogenous puberty, allowing transgender and gender-diverse (TGD) adolescents to avoid the development of secondary sexual characteristics that may cause psychological distress. This pause in pubertal progression provides time to explore gender identity or facilitates alignment with affirmed gender in those with an established identity. While widely used, long-term evidence on the efficacy and safety of GnRHa in this population remains limited.

Long-acting growth hormone in the treatment of children with growth hormone deficiency.

Introduction: The introduction of long-acting formulations in recent years is changing the landscape of growth hormone (GH) therapy. Daily recombinant human GH (rhGH) has been the treatment of choice for children and adults with GH deficiency (GHD), since its approval in 1985. However, decreasing adherence to treatment over time has been identified as a cause of the decline in rhGH efficacy, leading to significant efforts to develop long-acting rhGH (LAGH) formulations.

Preliminary Experience with Transdermal Preoperative Hormonal Treatment Before Severe Hypospadias Repair: Synergy Between Pediatric Surgeons and Endocrinologists.

The preoperative hormonal treatment (PHT) in eligible patients has the potential to become an asset for the treatment of severe hypospadias. The aim of the paper is to report the preliminary results on tolerability and efficacy of tailored transdermal PHT with testosterone before primary hypospadias repair, resulting by the joint activity between pediatric surgeons and endocrinologists. A retrospective study collected all the patients affected by severe hypospadias, with a glans width (GW) < 14 mm and/or a penile ventral curvature > 30°, treated with preoperative transdermal testosterone gel 2% at a standard dose of 2 mg/day after pediatric endocrinologist evaluation, from December 2020 to February 2024.

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.

Bacterial Meningitis in Infants Under 90 Days of Age: A Retrospective Single-Center Study.

Background: Bacterial meningitis (BM) in infants is a serious condition that can lead to significant complications. Lumbar puncture (LP) is essential to provide diagnoses, however false negatives may result if LP is performed after the starting of antibiotic therapy.

Methods: We conducted a retrospective analysis of infants of any gestational age with BM within their first 90 days of life and admitted to the Neonatal Intensive Care Unit of Modena Policlinico between 1 January 2011, and 31 December 2023.

Clinical, etiological, and therapeutic profile of early-onset absence seizures: A case series analysis.

Typical absence seizures represent a distinctive form of epileptic activity typically observed in pediatric populations, predominantly manifesting between the ages of 4 and 10, constituting Childhood Absence Epilepsy (CAE). However, a subset of patients presents with Early-onset Absence Epilepsy (EOAE), characterized by seizure onset before the fourth year of life, often displaying favorable outcomes with antiseizure medication. Conversely, atypical absence seizures exhibit prolonged duration and frequently entail tonic, atonic, or myoclonic motor elements, suggesting a more severe clinical course, commonly associated with epileptic encephalopathies of childhood onset.

Long-term safety and effectiveness of a somatropin biosimilar (Omnitrope) in children requiring growth hormone therapy: analysis of final data of Italian patients enrolled in the PATRO children study.

Purpose: Omnitrope (a somatropin biosimilar), used to treat growth disturbances, is considered to have a good safety profile in children. Here, we present the analysis of final data of the Italian cohort of the PAtients TReated with Omnitrope (PATRO) Children study.

Methods: This multicenter, open-label, longitudinal, post-marketing surveillance study enrolled eligible children during 2010-2018.

The assessment of urinary sexual hormones within minipuberty and correlations with anthropometrics in a cohort of healthy term children.

Introduction: Minipuberty follows different trends in boys and girls. Aim of our study was to explore timing and dynamics of minipuberty in healthy infants, analyzing urinary levels of sexual hormones. Moreover, we analyzed the association among HPG axis activity and linear growth, ano-genital distances (AGDs) in both sexes, and penile length in males.

Can a Shorter Dwell Time Reduce Infective Complications Associated with the Use of Umbilical Catheters?

Background: Umbilical venous catheters (UVCs) are the standard of care in neonatal intensive care units (NICUs) to administer fluids, parenteral nutrition and medications, although complications may occur, including central line-associated blood stream infections (CLABSIs). However, the dwell time to reduce CLABSI risk remains an open issue.

Methods: We performed a single-center retrospective study of newborns hospitalized in the Modena NICU with at least one UVC inserted over a 6-year period (period 1: January 2011-December 2013; period 2: January 2019-December 2021).

Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric emergency department use: a quasi-experimental study interrupted time-series analysis in North Italian hospitals, 2017 to 2022.

Background: The use of Non-Pharmaceutical Interventions (NPIs) during the COVID-19 pandemic is debated. Understanding the consequences these measures may have on vulnerable populations including children and adolescents is important.

Methods: This is a multicenter, quasi-experimental before-after study involving 12 hospitals of the North Italian Emilia-Romagna Region, with NPI implementation as the intervention event.

The Role of Nutrition on Thyroid Function.

Thyroid function is closely linked to nutrition through the diet-gut-thyroid axis. This narrative review highlights the influence of nutritional components and micronutrients on thyroid development and function, as well as on the gut microbiota. Micronutrients such as iodine, selenium, iron, zinc, copper, magnesium, vitamin A, and vitamin B12 influence thyroid hormone synthesis and regulation throughout life.

Identifying skull fractures after head trauma in infants with ultrasonography: is that possible?

Management of pediatric head trauma requires a delicate balance between accuracy and safety, with a dual emphasis on prompt diagnosis while minimizing radiation exposure. Ultrasonography (US) shows promise in this regard. A case study involving a 10-month-old infant with acute right parietal swelling revealed the utility of US in detecting a corresponding hypoechoic lesion, along with an underlying suspected fracture line of the vault and subdural hematoma.

Screening for sickle cell disease: focus on newborn investigations.

Drepanocytosis is a genetic disease relevant for its epidemiological, clinical and socio-economic aspects. In our country the prevalence is highly uneven with peaks in former malaria areas, but migration flows in recent years have led to significant changes. In this document we review the screening programs currently existing in Italy with particular emphasis on newborn screening, which in other countries around the world, including within Europe, is at most universal and mandatory.