A Novel Large Duplication on the X Chromosome as a Cause of Familial Generalized Dystonia: A Case Report.

Chromosomal aberrations are rare but known causes of movement disorders, presenting with broad phenotypes in which dystonia may be predominant. During the investigation of such cases, chromosomal studies are not often considered as a first approach. In this article, the authors describe a family affected by a generalized form of dystonia, evolving from a focal phenotype, for which a new X chromosome large duplication was found to be the likely causative, therefore highlighting the role of such studies when facing complex movement disorders.

Cardiovascular Performance in Neonates with Hypoxic-Ischemic Encephalopathy Under Therapeutic Hypothermia: Evaluation by Conventional and Advanced Echocardiographic Techniques.

This study aimed to evaluate the hemodynamic and ventricular performance of neonates with hypoxic-ischemic encephalopathy (HIE) undergoing therapeutic hypothermia using conventional and advanced echocardiographic techniques. This observational, prospective study included 22 neonates with HIE matched with 22 healthy neonates. Echocardiographic studies were performed 24 h after achieving target temperature during hypothermia and 24 h after rewarming.

International Expert-Based Consensus Definition, Classification Criteria, and Minimum Data Elements for Osteoradionecrosis of the Jaw: An Inter-Disciplinary Modified Delphi Study.

Purpose: Osteoradionecrosis of the jaw (ORNJ) is a severe iatrogenic disease characterized by bone death after radiation therapy (RT) to the head and neck. With over 9 published definitions and at least 16 classification systems, the true incidence and severity of ORNJ are obscured by lack of a standard for disease definition and severity assessment, leading to inaccurate estimation of incidence, reporting ambiguity, and likely under-diagnosis worldwide. This study aimed to achieve consensus on an explicit definition and phenotype of ORNJ and related precursor states through data standardization to facilitate effective diagnosis, monitoring, and multidisciplinary management of ORNJ.

Risk of Malignant Transformation of Oral Lichen Planus and Oral Lichenoid Lesions: A Single Centre, 10-Year Review.

Background: Oral lichen planus (OLP) and oral lichenoid lesions (OLL) are common chronic inflammatory diseases associated with malignant transformation. Risk factors associated with malignant transformation of OLP and OLL are not well defined.

Methods: A retrospective chart review assessed risk factors for progression of OLP and OLL to oral epithelial dysplasia (OED) or oral squamous cell carcinoma (OSCC) at a tertiary care centre in Toronto, Canada.

Antarctic nematodes survival in Martian and Lunar regolith simulants under terrestrial conditions.

The exploration of extraterrestrial environments has become a focal point of scientific inquiry, driven by advancements in technology and a growing interest in the potential for life beyond Earth. This study investigates the adaptability of Antarctic nematodes, known for thriving in extreme cold and isolation, to simulated Martian (MGS-1) and Lunar (LMS-1) soils. The experiment revealed differential responses in nematode survivability to the two simulants, with Lunar soil demonstrating better adaptability compared to Martian soil.