Extracorporeal Membrane Oxygenation as Life Support in Neonatal Respiratory Failure: A Single-Center Cohort Study and a Systematic Review.

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 survival.

Methods: We performed a Strengthening the Reporting of Observational Studies in Epidemiology (STROBE)-conformed retrospective observational study and a systematic review, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

Acute suppurative thyroiditis in a child secondary to pyriform sinus fistula: From single case to systematic review.

Acute suppurative thyroiditis (AST), a rare yet potentially life-threatening infection, comprises less than 1 % of neck pathologies and requires prompt treatment. Symptoms range from neck pain and fever to dysphagia and possible abscess formation. Broad-spectrum antibiotics are the primary treatment; however, surgical drainage may be necessary for abscesses to prevent systemic infection.

related disorders, attempt to better define clinical assessment.

Background: -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 seizures, and motor dysfunction. Defects in gene have been identified in cases diagnosed as Pitt-Hopkins-like-syndrome 2 (PTHLS2; OMIM#614325).

Intra-rater and inter-rater reliability of the fixed plumb line for postural and scoliosis assessment in the sagittal plane: a pilot study.

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 longer held by a physician but fixed to a support, evaluating the reliability in posture assessment, comparing it with PL in both adolescent with and without scoliosis.

Methods: The study evaluated the sagittal distances of the spine using a PL and a FPL in 80 young adults aged between 28.

CDKL5 deficiency-related neurodevelopmental disorders: a multi-center cohort study in Italy.

CDKL5 deficiency disorder (CDD) is a complex clinical condition resulting from non-functional or absent CDKL5 protein, a serine-threonine kinase pivotal for neural maturation and synaptogenesis. The disorder manifests primarily as developmental epileptic encephalopathy, with associated neurological phenotypes, such as hypotonia, movement disorders, visual impairment, and gastrointestinal issues. Its prevalence is estimated at 1 in 40,000-60,000 live births, and it is more prevalent in females due to the lethality of germline mutations in males during fetal development.

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.

 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 malformation (isolated microtia) or sometimes associated with other congenital anomalies involving various organs. Microtia has been classified in three degrees according to the complexity of the auricular malformation and to anotia referred to the total absence of the ear.

Coronavirus OC43 and Influenza H3N2 Concomitant Unilateral Parotitis: The Importance of Laboratory Tests in Mumps-Like Parotitis.

Mumps is an acute generalized infection caused by a . Infection occurs mainly in school-aged children and adolescents and the most prominent clinical manifestation is nonsuppurative swelling and tenderness of the salivary glands, unilaterally or bilaterally. Negative serology for mumps requires a differential diagnosis with other infectious agents, but it is not routine.

Case report: Structural brain abnormalities in -tubulinopathies: a narrative review.

Introduction: Tubulin genes have been related to severe neurological complications and the term "tubulinopathy" now refers to a heterogeneous group of disorders involving an extensive family of tubulin genes with being the most common. A review was carried out on the complex and severe brain abnormalities associated with this genetic anomaly.

Methods: A literature review of the cases of -tubulopathy was performed to investigate the molecular findings linked with cerebral anomalies and to describe the clinical and neuroradiological features related to this genetic disorder.

A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report.

Chromosome 21q deletion syndrome is a rare disorder affecting the long arm of chromosome 21 and manifesting with wide phenotypic features depending on the size and position of the deleted region. In the syndrome, three distinct deleted regions have been distinguished: region 1, from the centromere to approximately 31.2 Mb (21q11.

Children under 6 years with acute headache in Pediatric Emergency Departments. A 2-year retrospective exploratory multicenter Italian study.

Background: Preschool age (i.e. children under six years of age) represents a red flag for requiring neuroimaging to exclude secondary potentially urgent intracranial conditions (PUIC) in patients with acute headache.

SARS-CoV-2 and Swabs: Disease Severity and the Numbers of Cycles of Gene Amplification, Single Center Experience.

Pediatric COVID-19 determines a mild clinical picture, but few data have been published about the correlation between disease severity and PCR amplification cycles of SARS-CoV-2 from respiratory samples. This correlation is clinically important because it permits the stratification of patients in relation to their risk of developing a serious disease. Therefore, the primary endpoint of this study was to establish whether disease severity at the onset, when evaluated with a LqSOFA score, correlated with the gene amplification of SARS-CoV-2.

Post-Infectious Acute Cerebellar Ataxia Treatment, a Case Report and Review of Literature.

Background: infectious mononucleosis is very common during childhood and neurological manifestations are extremely rare. However, when they occur, an appropriate treatment must be undertaken to reduce morbidity and mortality as well as to ensure appropriate management.

Methods: we describe the clinical and neurological records of a female patient with post-EBV acute cerebellar ataxia, whose symptoms rapidly resolved with intravenous immunoglobulin therapy.