Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.

Background: Whole exome sequencing allows rapid identification of causative single nucleotide variants and short insertions/deletions in children with congenital anomalies and/or intellectual disability, which aids in accurate diagnosis, prognosis, appropriate therapeutic interventions, and family counselling. Recently, de novo variants in the MED13 gene were described in patients with an intellectual developmental disorder that included global developmental delay, mild congenital heart anomalies, and hearing and vision problems in some patients.

Results: Here we describe an infant who carried a de novo p.

Iatrogenic Glossopharyngeal Neuropathy in Aesthetic Practice: A Case Report.

Iatrogenic glossopharyngeal nerve injuries are commonly associated with procedures such as a tonsillectomy, carotid endarterectomy, and endotracheal intubation. We present a previously unreported complication of a thread lift procedure in the jowl region, causing damage to the glossopharyngeal nerve through compression. The glossopharyngeal nerve belongs to the bulbar group of the cranial nerves.

Clinical course of novel COVID-19 infection in pregnant women.

Objectives: Evaluation of clinical course of COVID-19 during pregnancy and maternal and perinatal outcomes of this pregnancy.

Methods: 66 women with polymerase chain reaction (PCR) - confirmed SARS-CoV-2 and their 42 neonates were included in the prospective observational study. Demographic, epidemiological, clinical, laboratory and instrumental data of pregnancy, delivery, postpartum period, including pharmacotherapy and neonatal outcomes were analyzed.