Piero Pavone
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View article: A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement
A Systematic Review of Cutaneous Hypopigmentation Disorder Associated with Neurologic Involvement Open
Background/Objectives: Cutaneous hypopigmentation is a common clinical sign observed in a variety of disorders. It may be congenital or acquired, localized or diffuse, and can range from benign to being associated with systemic conditions,…
View article: A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders Open
Introduction Microtubules are essential components of the neuronal cytoskeleton. The α - and β -tubulins, variably expressed in the central nervous system, play key roles in neurogenesis and brain development. Pathogenic variants in TUBB2A…
View article: Unraveling the link: SARS‑CoV‑2 infections and seizures in pediatric patients (Review)
Unraveling the link: SARS‑CoV‑2 infections and seizures in pediatric patients (Review) Open
View article: The Many Faces of Child Abuse: How Clinical, Genetic and Epigenetic Correlates Help Us See the Full Picture
The Many Faces of Child Abuse: How Clinical, Genetic and Epigenetic Correlates Help Us See the Full Picture Open
Background/Objectives: Child abuse is a pervasive global issue with significant implications for the physical, emotional, and psychological well-being of victims. This review highlights the clinical, molecular, and therapeutic dimensions o…
View article: Clinical Presentation, Diagnostic Approaches, and Management of Tornwaldt Cysts: A Comprehensive Narrative Review
Clinical Presentation, Diagnostic Approaches, and Management of Tornwaldt Cysts: A Comprehensive Narrative Review Open
Objective This narrative review aims to provide otolaryngologists with a comprehensive overview of the clinical presentation, diagnostic approaches, and management strategies for Tornwaldt cysts, synthesizing insights from the available li…
View article: Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon?
Is Precision Therapy in Infantile-Onset Epileptic Encephalopathies Still Too Far to Call Upon? Open
Epileptic and developmental encephalopathies (EDEs) are a group of severe, genetically various neurological conditions characterized by early-onset seizures and developmental impairments. Recent advances in molecular genetics and diagnosti…
View article: Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report
Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report Open
This case highlights the complex nature of diagnosing and managing congenital limb deformities driven by genetic factors. It underscores the critical importance of comprehensive genetic testing in determining the etiology of limb malformat…
View article: Novel finding of paroxysmal tonic downgaze in Loeys-Dietz syndrome: expanding neurological phenotype
Novel finding of paroxysmal tonic downgaze in Loeys-Dietz syndrome: expanding neurological phenotype Open
View article: Scurvy, a not obsolete disorder: Clinical report in eight young children and literature review
Scurvy, a not obsolete disorder: Clinical report in eight young children and literature review Open
Background Vitamin C is a key to many important functions. It stimulates the immune system by protecting humans from infections and shows notable anti-viral and anti-inflammatory properties. With the antioxidative properties it acts agains…
View article: The Microbiota: Impact and Interconnections for a Good Sleep
The Microbiota: Impact and Interconnections for a Good Sleep Open
Sleep is a cornerstone of human health, intricately regulated by neurological processes and profoundly influenced by the gut microbiota [1]. The interplay between these systems is dynamic, and the quality of our sleep can be a reflection o…
View article: Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic Review
Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic Review Open
Background: Extracorporeal membrane oxygenation (ECMO) is a life support in newborns with severe respiratory failure. Our main objective was to evaluate the mortality of patients and define positive and negative predictive factors of survi…
View article: Acute pain in children: A reappraisal on the modalities of grade evaluation and on treatment strategies (Review)
Acute pain in children: A reappraisal on the modalities of grade evaluation and on treatment strategies (Review) Open
View article: Intra-rater and inter-rater reliability of the fixed plumb line for postural and scoliosis assessment in the sagittal plane: a pilot study
Intra-rater and inter-rater reliability of the fixed plumb line for postural and scoliosis assessment in the sagittal plane: a pilot study Open
Background The plumb line (PL) is a common tool for assessing the sagittal curvatures of the spine, but its accuracy depends on the ability of the physician to use it correctly. This study aimed to present a fixed plumb line (FPL) no longe…
View article: Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
Correction to: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy Open
View article: High-Flow Oscillatory Ventilation: A Possible Therapeutic Option for Pediatric Patients with Cardiovascular Diseases
High-Flow Oscillatory Ventilation: A Possible Therapeutic Option for Pediatric Patients with Cardiovascular Diseases Open
High-flow oscillatory ventilation (HFOV) is a common rescue treatment in infants and children with respiratory failure. This type of ventilation is an effective technique in numerous diseases that affect a child in the postnatal period, su…
View article: High-Flow Oscillatory Ventilation in Pediatric Patients With Congenital Cardiovascular Diseases
High-Flow Oscillatory Ventilation in Pediatric Patients With Congenital Cardiovascular Diseases Open
High-flow oscillatory ventilation (HFOV) is a common rescue treatment in infants and children with respiratory failure. This type of ventilation is an effective technique in numerous diseases that affect a child in the postnatal period, su…
View article: Presentation, Radiologic Features, and Treatment Options of Congenital Tongue Tumors: A Comprehensive Review
Presentation, Radiologic Features, and Treatment Options of Congenital Tongue Tumors: A Comprehensive Review Open
AIM: Congenital tumors of the tongue are rare in pediatric patients but encompass a diverse range of entities. Each tumor type exhibits distinct clinical behaviors, necessitating a precise approach to differentiating the tumor types and a …
View article: A talented giant: a tribute to the memory of John M. Opitz
A talented giant: a tribute to the memory of John M. Opitz Open
View article: SARS-CoV-2-Related Parotitis in Children: A Narrative-Focused Review
SARS-CoV-2-Related Parotitis in Children: A Narrative-Focused Review Open
The COVID-19 pandemic has revealed a diverse spectrum of clinical manifestations in the pediatric population, including the rare but notable presentation of unilateral parotitis. This comprehensive review explores the complexities surround…
View article: CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy
CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy Open
View article: A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia
A Hundred Faces for a Unique Disorder: Hereditary Spastic Paraplegia Open
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View article: Adapted Physical Activity Programs for Children with Autism Spectrum Disorder and Neurotypical Children: Differences between Online and Face-to-Face Training
Adapted Physical Activity Programs for Children with Autism Spectrum Disorder and Neurotypical Children: Differences between Online and Face-to-Face Training Open
During the COVID-19 pandemic, physical activity was significantly decreased in all age groups. The purpose of this study is to investigate children’s motor skills by administering an adapted physical activity program for the development of…
View article: SARS-CoV-2 associated unilateral parotitis in children: A case report and literature review
SARS-CoV-2 associated unilateral parotitis in children: A case report and literature review Open
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection usually affects the respiratory system; however, a number of atypical manifestations of this disease have also been reported, especially in children. The present study …
View article: Pediatric Lemierre’s Syndrome: A Comprehensive Literature Review
Pediatric Lemierre’s Syndrome: A Comprehensive Literature Review Open
Background: Lemierre syndrome is a rare, potentially fatal complication of oropharyngeal infections characterized by septic thrombophlebitis of the internal jugular vein. It primarily affects healthy adolescents and young adults. Its incid…
View article: Urosepsis as the First Presentation of Discopathy in an Adolescent with Occult Neurogenic Bladder
Urosepsis as the First Presentation of Discopathy in an Adolescent with Occult Neurogenic Bladder Open
Urological complications are very common among patients with spinal cord injury, impacting meaningfully quality of life.While upper urinary tract dysfunction is less common, lower urinary tract dysfunction, such as "neurogenic bladder" is …
View article: Genetic epilepsy and role of mutation variants in 27 epileptic children: results from a “single tertiary centre” and literature review
Genetic epilepsy and role of mutation variants in 27 epileptic children: results from a “single tertiary centre” and literature review Open
Aim and scopeThe wide use of next-generation sequencing has allowed professionals to reach relevant progress in the medical field including diagnoses, prognoses, and genetic counselling and to help in recognizing the pathogenic mechanisms …
View article: <i>NRXN1-</i>related disorders, attempt to better define clinical assessment
<i>NRXN1-</i>related disorders, attempt to better define clinical assessment Open
Background NRXN1 -related disorders are uncommonly reported. The clinical features of the disorders are wide and heterogeneous mainly consisting of undistinctive facial dysmorphism, mild to severe intellectual and speech delay, epileptic s…
View article: Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome
Real-life data comparing the efficacy of vigabatrin and oral steroids given sequentially or combined for infantile epileptic spasms syndrome Open
View article: Urea/Creatinine Ratio’s Correlation with Creatine Kinase Normalization in Pediatric COVID-19 Patients with Myositis: Evaluating Prognostic and Predictive Value
Urea/Creatinine Ratio’s Correlation with Creatine Kinase Normalization in Pediatric COVID-19 Patients with Myositis: Evaluating Prognostic and Predictive Value Open
Coronavirus disease 2019 (COVID-19) has been chiefly linked with substantial respiratory complications. However, emerging studies have brought attention to the occurrence of severe muscle inflammation (myositis) related to COVID-19, potent…
View article: Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation
Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation Open
Background Microtia is an uncommon congenital malformation ranging from mild anatomic structural abnormalities to partial or complete absence of the ear leading to hearing impairment. Congenital microtia may present as a single malformatio…