A Nine-Year-Old Girl With Cornelia de Lange Syndrome: A Case Report and Review of the Literature.

Cornelia de Lange syndrome is a genetic disorder that affects multiple systems. It is characterized by growth delays and psychomotor retardation associated with various anomalies, including hirsutism, facial dysmorphism, cardiac abnormalities, upper-extremity malformations, and gastrointestinal disorders. Early detection and appropriate management of associated disorders are essential for achieving favorable outcomes.

Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.

Cornelia de Lange syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder. Pathogenic variants in genes encoding the structural subunits and regulatory proteins of the cohesin complex (, , , , and ) are the primary contributors to the pathogenesis of CdLS. Pathogenic variations in these genes disrupt normal cohesin function, leading to the syndrome's diverse and complex clinical presentation.

Management of Severe Pyogenic Spinal Infections: The 2SICK Study by the EANS Spine Section.

Background Context: Spondylodiscitis management presents significant clinical challenges, particularly in critically ill patients, where the risks and benefits of surgical intervention must be carefully balanced. The optimal timing of surgery in this context remains a subject of debate.

Purpose: This study aims to evaluate the effectiveness of early surgery versus delayed surgery or conservative management in critically ill patients with de novo pyogenic spondylodiscitis.

Unintended consequences of measures implemented in the school setting to contain the COVID-19 pandemic: a scoping review.

Background: Throughout the COVID-19 pandemic, schools were a key setting for intervening with public health and social measures (PHSM) to reduce transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Consequently, there is a need to assess the varied unintended consequences associated with PHSM implemented in the school setting, for students, teachers, and school staff, as well as for families and the wider community. This is an update of a Cochrane scoping review first published in 2022.

Dysphagia and Body Composition in Cornelia de Lange Syndrome.

Limited research had investigated nutritional status in patients with Cornelia de Lange Syndrome (CdLS) (OMIM 122470, 300590, 300882, 610759, 620568 and 614701). Body composition assessed via bioelectric impedance (BIA) is a particularly under-explored issue. In this cross-sectional study, we hypothesize that body composition imbalance is frequent in CdLS and may be associated with dysphagia.

Sensory-Motor Polyneuropathy in an 11-year- old Girl with a Pathogenic Variant in SMC1A: A Case Report.

Pathogenic variants in the gene are often dominant-negative and cause an X-linked form of Cornelia de Lange syndrome (CdLS) with growth retardation and typical facial features. However, rare variants cause a developmental and epileptic encephalopathy (DEE) with intractable early-onset epilepsy that is absent in CdLS. Here we describe an 11-year-old girl with epilepsy, walking disorder, and neurodevelopmental disorder.

Generation and characterization of two isogenic induced pluripotent stem cell lines from a young female with microcephaly carrying a compound heterozygous mutation in BUB1 gene.

Mutations in the Budding uninhibited by benzimidazoles (BUB1) gene were recently associated with neurodevelopmental disorders (Carvalhal et al., 2022). Here, we describe the generation and characterization of two induced pluripotent stem cells (iPSC) clones from a young female with microcephaly.

Audiological Characterization of Individuals with Cornelia de Lange Syndrome.

 Cornelia de Lange Syndrome (CdLS) is a genetic disorder in which individuals may present sensorineural and/or conductive hearing loss, and the results of behavioral auditory assessments are not accurate.  To characterize the audiological profile of individuals with CdLS through behavioral, electroacoustic, and electrophysiological audiological assessments.  The study included 13 individuals of both sexes, aged between 3 and 26 years, with diagnoses confirmed through genetic studies.

The NIPBL-gene mutation of a Cornelia de Lange Syndrome patient causes deficits in the hepatocyte differentiation of induced Pluripotent Stem Cells via altered chromatin-accessibility.

The Cornelia de Lange syndrome (CdLS) is a rare genetic disease, which is characterized by a cohesinopathy. Mutations of the NIPBL gene are observed in 65% of CdLS patients. A novel iPSC (induced Pluripotent Stem Cell) line was reprogrammed from the leukocytes of a CdLS patient carrying a missense mutation of the NIPBL gene.