[Status epilepticus in a pregnant patient with a previously unrecognized POLG-associated disease]. / Epilepticheskii status u beremennoi patsientki s vpervye vyyavlennym POLG-assotsiirovannym zabolevaniem.

POLG-associated diseases are rare causes of pharmacoresistant epilepsy and status epilepticus, especially in adult patients. Phenotypic and genotypic variability in these conditions causes the complexity of their diagnosis. In the study, we report a case of a 33-year-old female patient who developed recurrent convulsive status epilepticus with focal clonic onset at the week 22/23 of pregnancy. Intensive anti-seizure therapy was administered, including the use of valproic acid, as well as the treatment of somatic complications. Given the acute onset, the semiology of seizures, the presence of psychopathological symptoms, autoimmune etiology of the disease was initially suspected. A month after the withdrawal of valproic acid, the patient began to show signs of toxic hepatitis, which eventually led to death. According to the results of whole-exome sequencing obtained later, the patient was a carrier of a pathogenic homozygous variant c.2243G>C (p.W748S) in the POLG gene. The presented case highlights the importance of molecular genetic testing and the risk associated with valproic acid hepatotoxicity in patients with cryptogenic epileptic status.

Prospects for the use of graphene-based biological sensors in the early diagnosis of Alzheimer's disease (review of literature).

Among the most significant challenges presented to modern medicine is the problem of cognitive disorders. The relevance of her research is determined by the wide spread of disorders of the higher cortical functions, their significant negative impact on the quality of life of patients, as well as high economic costs on the part of the state and the patient's relatives aimed at organizing medical, diagnostic and rehabilitation processes. The main cause of cognitive impairment in the elderly is Alzheimer's disease. Currently, the criteria for the diagnosis of this nosological form have been developed and are widely used in practice. However, it should be noted that their use is most effective if the patient has a detailed clinical picture, at the stage of dementia. In addition, they provide for the study of biomarkers in a number of cases in the cerebrospinal fluid or using positron emission tomography, which presents certain technical difficulties. Especially significant problems arise in the pre-dement stages. This situation dictates the need to search for new promising diagnostic methods that will have high sensitivity and specificity, as well as the possibility of application in the early stages of Alzheimer's disease, including in outpatient settings. The article provides information about modern methods of computer neuroimaging, discusses the research directions of individual biomarkers, and also shows the prospects for using diagnostic test panels developed on the basis of graphene biosensors, taking into account the latest achievements of nanotechnology and their integration into medical science.