Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report.

Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations. This report sheds light on a unique co-presentation involving mutations in both the GLI3 and TBX5 genes, offering a deeper understanding of the genetic interactions that may influence limb development. This case report is important to increase our knowledge on genetic bases of limb malformations.

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.

Early is Better: Report of a Cowden Syndrome.

In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic test. Cowden syndrome is one of these rare causes; it is an autosomal dominant genodermatosis characterized by multiple hamartomas of ectodermal, mesodermal, and endodermal origin.

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.

Shared metadata for data-centric materials science.

The expansive production of data in materials science, their widespread sharing and repurposing requires educated support and stewardship. In order to ensure that this need helps rather than hinders scientific work, the implementation of the FAIR-data principles () must not be too narrow. Besides, the wider materials-science community ought to agree on the strategies to tackle the challenges that are specific to its data, both from computations and experiments.

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.