Current Advances and Challenges in Gene Therapies for Neurologic Disorders: A Review for the Clinician.

Over 300 million people globally are affected by rare diseases, many of which present predominantly with neurologic symptoms. Rare neurologic disorders pose significant diagnostic and therapeutic challenges including delayed diagnoses, limited treatment options, and a shortage of specialists. However, advancements in diagnostics, particularly next-generation sequencing and expansion of newborn screening, have significantly shortened the time to diagnosis for many of these disorders.

Football-related maxillofacial injuries.

Maxillofacial injuries sustained playing sports are becoming increasingly common, and in the UK where football is the most popular team sport, associated maxillofacial injuries are a regular occurrence. This study retrospectively examined data on patients who were referred with facial injuries sustained playing football between 2007 and 2019 (n = 265). Demographics, mechanism of injury, diagnosis, and treatment received were analysed.

Combining whole exome sequencing with in silico analysis and clinical data to identify candidate variants in pediatric left ventricular noncompaction.

Background: Understanding the overall variant burden in pediatric patients with left ventricular noncompaction (LVNC) has clinical implications. Whole exome sequencing (WES) allows detection of coding variants in both candidate cardiomyopathy genes and those included on commercial panels. Other lines of evidence, including in silico analysis, are necessary to reduce the overwhelming number of variants to those most likely having a phenotypic impact.

Neutrophil to lymphocyte ratio as a prognostic marker of deep neck space infections secondary to odontogenic infection.

Neutrophil to lymphocyte ratio (NLR) is a marker of infection and is used as a prognostic marker for cancer and cardiovascular disease. There is little application of NLR as a biomarker for odontogenic infection. C-reactive protein (CRP) is a commonly used marker for odontogenic infection that correlates with length of stay (LOS).