Publications by authors named "M Yu Dorofeeva"

Patients with tuberous sclerosis complex present with cognitive, behavioral, and psychiatric impairments, such as intellectual disabilities, autism spectrum disorders, and drug-resistant epilepsy. It has been shown that these disorders are associated with the presence of cortical tubers. Tuberous sclerosis complex results from inactivating mutations in the or genes, resulting in hyperactivation of the mTOR signaling pathway, which regulates cell growth, proliferation, survival, and autophagy.

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Unlabelled: Most children with tuberous sclerosis (TS) present with intractable seizures. Various factors including demography, clinical data and surgery option are mentioned to affect the outcome after epilepsy surgery in these cases.

Objective: To evaluate some demographic and clinical variables probably related to seizure outcome.

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Chordoma associated with tuberous sclerosis complex (TSC) is an extremely rare tumor that was described only in 13 cases since 1975. Сhordoma itself is a malignant slow-growing bone tumor thought to arise from vestigial or ectopic notochordal tissue. Chordoma associated with TSC differs from chordoma in the general pediatric population in the median age, where the diagnosis of TSC-associated chordoma is 6.

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Background: CYP2C19 and CYP3A are the main enzymes involved in omeprazole metabolism, while CYP3A is the principal enzyme family for amlodipine biotransformation. Concomitant use of these drugs in patients with hypertension and acid-related disorders (ARD) might lead to drug-drug interaction.

Purpose: The aim of the study was to find if adding omeprazole for treating ARD to amlodipine long-term therapy of hypertension influenced blood pressure of CYP2C19 polymorphism carriers.

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The review addresses the problem of the diagnosis of Lennox-Gastaut syndrome, a severe epileptic encephalopathy. Despite the presence of a vivid clinical and encephalographic picture, classical Lennox-Gastaut syndrome, which meets all of its diagnostic criteria, is quite rare. Many authors believe that the diagnosis of the syndrome is possible if the patient has tonic seizures and typical ictal and interictal patterns on the electroencephalogram (EEG).

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