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.

[Surgical treatment of focal drug-resistant epilepsy associated with temporal lobe encephalocele].

Background: In recent years, temporal lobe encephalocele has become more common in patients with focal drug-resistant epilepsy. Despite available experience, there are still no clear recommendations for choosing the extent of surgery in these patients.

Objective: To evaluate the effectiveness of diagnosis and surgical treatment of focal drug-resistant epilepsy associated with temporal lobe encephalocele.

[Epileptic syndromes associated with focal clonic seizures].

Objective: To study clinical, electroencephalographic and neuroimaging features in children with epileptic syndromes associated with focal clonic seizures (FCS).

Material And Methods: We examined 1258 patients with various forms of epilepsy with the onset of seizures from the first day of life to 18 years.

Results: FCS was identified in 263 patients (20.

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.

[The effectiveness of botulinum therapy of trigeminal neuralgia].

Objective: To evaluate the treatment protocol with the use of onabotulinum toxin type A (botox) and the efficacy of a single botulinum therapy procedure for clinical manifestations in patients with trigeminal neuralgia (TN).

Material And Methods: We studied 90 patients (57 women, 33 men), including 80 people with primary TN and 10 people with secondary TN. Then 20 patients with primary TN (11 women and 9 men, mean age 61.