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.Pro835Ser missense variant in the MED13 gene, according to whole exome trio sequencing. He presented with congenital heart anomalies, dysmorphic features, hydrocephalic changes, hypoplastic corpus callosum, bilateral optic nerve atrophy, optic chiasm atrophy, brain stem atrophy, and overall a more severe condition compared to previously described patients. CONCLUSIONS: Therefore, we propose to expand the MED13-associated phenotype to include severe complications that could end up with multiple organ failure and neonatal death.

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. It is connected with the vagus and, therefore, is closely associated with the latter functionally and anatomically. Damage to the former may present with cardiovascular complications associated with the vagus nerve. The presented case demonstrates the diagnostic and treatment aspects of iatrogenic injury to the glossopharyngeal nerve.

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. RESULTS: 15 (22.7%) women were asymptomatic, 25 (38%) had mild disease, while moderate and severe forms were detected in 20 (30.2%) and 6 (9.1%) cases, respectively. Additional oxygenation was required in 6 (9%) cases: 4 (6%) received CPAP therapy and 2 (3%) - mechanical ventilation. Main clinical symptoms were cough (51.5%), anosmia (34.9%), and hyperthermia (33.3%). Laboratory changes included increased levels of lactate dehydrogenase (LDH), creatinine, d-dimer, and C-reactive protein (CRP), anemia, and leukopenia. All pregnant women received low molecular weight heparin and interferon alfa-2b according to the National clinical recommendations. Antimicrobial drugs included Amoxicillin/Clavulanic acid (46%) and macrolides (28%) or carbapenems in severe cases of disease. Spontaneous abortion was reported in 6.1% of cases. Eight preterm (19%) and 34 term deliveries (81%) occurred. The mean weight of neonates was (3283 ± 477) g, 1- and 5-min Apgar score was (7.8 ± 0.6) and (8.7 ± 0.5), respectively. No cases of neonatal COVID-19 infection were reported. CONCLUSIONS: Mostly, the manifestations of COVID-19 were mild. However, 9% of cases were severe, and could contribute to preterm delivery or maternal morbidity. Main predictors of severe COVID-19 course in pregnant women were a decrease in the levels of erythrocytes and lymphocytes and increase in the levels of alanine aminotransferase and CRP. Elimination of the virus in pregnant women required more time due to altered immunity. No evidence of vertical transmission during pregnancy and delivery was found. However, the possibility of this cannot be excluded.