Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

The neuronal SNARE complex drives synaptic vesicle exocytosis. Therefore, one of its core proteins syntaxin 1A (STX1A) has long been suspected to play a role in neurodevelopmental disorders. We assembled eight individuals harboring ultra rare variants in STX1A who present with a spectrum of intellectual disability, autism and epilepsy.

A proof-of-concept study on the genomic evolution of Sars-Cov-2 in molnupiravir-treated, paxlovid-treated and drug-naïve patients.

Little is known about SARS-CoV-2 evolution under Molnupiravir and Paxlovid, the only antivirals approved for COVID-19 treatment. By investigating SARS-CoV-2 variability in 8 Molnupiravir-treated, 7 Paxlovid-treated and 5 drug-naïve individuals at 4 time-points (Days 0-2-5-7), a higher genetic distance is found under Molnupiravir pressure compared to Paxlovid and no-drug pressure (nucleotide-substitutions/site mean±Standard error: 18.7 × 10 ± 2.

Reconstruction of metatarsal bone after giant cell tumor resection with no vascularized fibular graft in a pediatric patient: Case report and review of literature.

The Giant Cell tumor (GCT) is a benign, locally aggressive lesion that cause bone destruction and shows a malignant potential. It is a relatively common skeletal tumor that is therefore typically seen in young adults. Few cases are described in literature of GCT in the immature skeleton, and the metatarsal is an unusual location for a primary bone GCT, especially in pediatric age.

The development of the International Classification of Functioning, Disability and Health for Child and Youth (ICF-CY) Core Sets: a systematic review.

Purpose: The aim of this systematic review is to verify the development of the International Classification of Functioning, Disability and Health for Child and Youth (ICF-CY), investigating methodology and how many core sets have been created.

Methods: Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines were used to carry out the systematic review. Six bibliographic databases were searched: MEDLINE, SCOPUS, Web of Sciences, CINHAL, PEDro, and OT Seeker.

Patient safety implications of wearing a face mask for prevention in the era of COVID-19 pandemic: a systematic review and consensus recommendations.

In the past, the use of face masks in western countries was essentially limited to occupational health. Now, because of the COVID-19 pandemic, mask-wearing has been recommended as a public health intervention. As potential side effects and some contraindications are emerging, we reviewed the literature to assess the impact of them in daily life on patient safety and to provide appropriate guidelines and recommendations.

Quality of online information about migraine headache surgery.

Migraine headache is a debilitating disease that can lead to severe functional limitations and is the most common primary headache. In more than 30% of cases conservative therapies do not allow the control of symptoms or cause side effects. Peripheral nerve surgery should be considered in non-responsive chronic migraine or suspected peripheral origin.

Epidemiological characterization of SARS-CoV-2 variants in children over the four COVID-19 waves and correlation with clinical presentation.

Since the start of SARS-CoV-2 pandemic, children aged ≤ 12 years have always been defined as underrepresented in terms of SARS-CoV-2 infections' frequency and severity. By correlating SARS-CoV-2 transmission dynamics with clinical and virological features in 612 SARS-CoV-2 positive patients aged ≤ 12 years, we demonstrated a sizeable circulation of different SARS-CoV-2 lineages over the four pandemic waves in paediatric population, sustained by local transmission chains. Age < 5 years, highest viral load, gamma and delta clades positively influence this local transmission.

Narrative review on the management of moderate-severe atopic dermatitis in pediatric age of the Italian Society of Pediatric Allergology and Immunology (SIAIP), of the Italian Society of Pediatric Dermatology (SIDerP) and of the Italian Society of Pediatrics (SIP).

Currently, there are a few detailed guidelines on the overall management of children and adolescents with moderate-severe atopic dermatitis. AD ​​is a complex disease presenting with different clinical phenotypes, which require an individualized and multidisciplinary approach. Therefore, appropriate interaction between primary care pediatricians, pediatric allergists, and pediatric dermatologists is crucial to finding the best management strategy.

Health-related quality of life in Italian children and adolescents with congenital heart diseases.

Background: Congenital heart disease (CHD) is the most common congenital anomaly at birth, affecting approximately 1% of live births. In recent decades great medical and surgical advances have significantly increased life expectancy, shifting healthcare professionals' and researchers' interests in patients' Quality of Life (QoL). The main aims of our study were to evaluate generic and condition-specific QoL in a group of Italian children and adolescents with CHD and their parents and examine the level of agreement and directional disagreement between child/adolescent and parents reports on generic and condition-specific QoL.

TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.

Purpose: TRAPPC9 deficiency is an autosomal recessive disorder mainly associated with intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has not been associated with biochemical abnormalities.

Methods: Exome sequencing was performed in 3 individuals with ID and dysmorphic features.

Color Doppler Evaluation of Arterial Resistive Index in Infantile Hemangioma: A Useful Parameter to Monitor the Response to Oral Propranolol?

Infantile hemangioma (IH) is the most common benign vascular tumor in childhood. In more than 85% of all cases, IHs undergo spontaneous involution, but nearly 10-12% of IHs develop complications and require immediate therapy. Oral propranolol is currently the first-line treatment for IHs.

Lateral versus vertical hemispheric disconnection for epilepsy: a systematic review and meta-analysis.

Objective: Lateral periinsular hemispherotomy (LPH) and vertical parasagittal hemispherotomy (VPH) are the most popular disconnective techniques for intractable epilepsies associated with unilateral hemispheric pathologies. The authors aimed to investigate possible differences in seizure outcome and complication rates between patients who underwent LPH and VPH.

Methods: A comprehensive literature search of PubMed and Embase identified English-language articles published from database inception to December 2019 that reported series (minimum 12 patients with follow-up ≥ 12 months) on either LPH or VPH.

Epidemiology and prevention of respiratory syncytial virus infections in children in Italy.

Respiratory syncytial virus (RSV) is the leading global cause of respiratory infections in infants and the second most frequent cause of death during the first year of life. This highly contagious seasonal virus is responsible for approximately 3 million hospitalizations and 120,000 deaths annually among children under the age of 5 years. Bronchiolitis is the most common severe manifestation; however, RSV infections are associated with an increased long-term risk for recurring wheezing and the development of asthma.

All You Need Is Evidence: What We Know About Pneumonia in Children With Neuromuscular Diseases.

Neuromuscular diseases may involve all major respiratory muscles groups including inspiratory, expiratory, and bulbar muscles. Respiratory complications are the major cause of morbidity and mortality. Pneumonia represents a frequent cause of morbidity in children with neuromuscular disease.

Burned-Out Testicular Tumors in Adolescents: Clinical Aspects and Outcome.

Testicular germ cell tumors are the fourth most common neoplasm in adolescents, accounting for 8% of all tumors in the age group 15-19 years. On rare instances, the primary testicular lesion is not clinically or radiologically evident while nodal or visceral metastases represent the clinical manifestations of the disease. This phenomenon is described as "burned-out testicular tumor.

The Versatility of the Free Vastus Lateralis Muscle Flap: Orbital Reconstruction After Removal of Complex Vascular Malformation in a Pediatric Patient.

Vascular orbital lesions in pediatric population represent a demanding therapeutic challenge which requires a multidisciplinary team. In severe cases, orbital enucleation can be considered. Surgical management of enucleated orbital region in children, differently from the adults, represents a challenging procedure owing to the intrinsic relation between volume replacement and normal orbital growth.

Cariogenic Risk and COVID-19 Lockdown in a Paediatric Population.

The Severe Acute Respiratory Syndrome Coronavirus 2 disease COVID-19 pandemic caused several lifestyle changes, especially among younger people. The study aimed to describe the impact of eating habits, lifestyle, and home oral hygiene during the COVID-19 pandemic, on the cariogenic risk in the Italian paediatric population, by using an online survey. The survey was conducted through a virtual questionnaire divided into four parts: child personal and anthropometric data; oral health; child dietary habits (KIDMED test); and child lifestyle, before and during COVID-19 lockdown.

Polycystic ovary syndrome in pediatric obesity and diabetes.

Polycystic ovary syndrome is characterized by anovulation (amenorrhea, oligomenorrhea, irregular menstrual cycles) combined with symptoms of androgen excess (hirsutism, acne, alopecia). The clear definition and diagnosis in adolescents could be challenging considering that most of symptoms occur as part of the expected physiological hormonal imbalance of puberty. Therefore, different diagnostic criteria have been elaborated.

Assessing Family Functioning Before and After an Integrated Multidisciplinary Family Treatment for Adolescents With Restrictive Eating Disorders.

The present study presents an investigation of family functioning in the families of adolescents with severe restrictive eating disorders (REDs) assessed before and 6 months after a multidisciplinary family treatment program that combined psychodynamic psychotherapy, parental role intervention, and triadic or family-centered interventions. Nutritional counseling and neuropsychiatric monitoring of the overall treatment and care process were also provided. Family functioning was assessed using the clinical version of the Lausanne Trilogue Play (LTPc), a semi-structured procedure for observing family dynamics, previously validated for this patient population.