-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.

In recent years, the affordability and availability of genetic testing have led to its increased use in clinical care. The increased frequency of testing has led to variants being identified as one of the more common variants associated with neurological disorders. In this review, we aim to summarize the common clinical phenotypes associated with pathogenic variants, provide an overview of their known natural history, and discuss current research into the genotype to phenotype correlation.

Annular pustular psoriasis in a 14-month-old girl: a therapeutic challenge.

Annular pustular psoriasis (annular PP) is a rare but severe variant of psoriasis, which may even occur in early childhood. At this age, therapeutic options are limited and medication issues can be challenging. We report clinical features, diagnostic findings and treatment of an 11-month-old girl with annular PP.

An 8-month history of meningitis in an extremely low birth weight infant? - Long-lasting Infection with Ureaplasma parvum.

Introduction: Ureaplasma spp. have been implicated in the pathogenesis of both preterm labor and neonatal morbidity including pneumonia and sepsis and the development of chronic lung disease of prematurity. Data on Ureaplasma meningitis are limited and partly controversially discussed.