Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.

Background: Periventricular nodular heterotopia (PNH), associated with FLNA mutations, is a rare clinical condition potentially associated with multiple systemic conditions, including cardiac, pulmonary, skeletal, and cutaneous diseases. However, due to a paucity of information in the literature, accurate prognostic advice cannot be provided to patients with the disease.

Case Presentation: We report a 2-year-old female whose PNH was associated with a nonsense mutation in the q28 region of the X chromosome, in exon 31 of FLNA (c.

Expression and significance of serum vitamin D and LL-37 levels in infants with bacterial pneumonia.

Objective: To investigate the significance of vitamin D and human antimicrobial peptide LL-37 in the occurrence and development of bacterial pneumonia in infants.

Methods: From January 2021 to January 2022, 80 infants with bacterial pneumonia were selected, including 33 cases of gram-positive bacterial infection (GP) and 47 cases of gram-negative bacterial infection (GN). During the same period, 40 infants who underwent health examination in The Affiliated Hospital of Hangzhou Normal University served as the healthy control group.