The pathology of carotid arteries takes a significant place in the structure of cerebral vascular diseases. The review of literature on pathologic tortuosity of carotid arteries is presented in the paper; the influence of this state on cerebral circulation disturbance is discussed; the etiology, diagnosis and methods of treatment of pathologic deformity of magistral arteries of the head are considered.
The article presents a clinical study of an infant with rare inherited metabolism disorder – molybdenum cofactor deficiency, for the first time in Russian literature. The onset of disorder – in early neonatal period with a suppression syndrome and myoclonic seizures combined with a burstsuppression electroencephalographic patterns, followed by a reveal of psychomotor delay. Сraniofacial dystrophies were present, including craniostenosis and microcephaly. Somatic status was characterized by hepatolienomegaly, dysmetabolic changes of kidneys’ parenchyma (suggested by ultrasound) and crystalluria. Neuroimaging data were contradictory. Neurosonography results allowed diagnosing concomitant inborn brain development defect: true porencephalia of large hemispheres. However, brain magnetic resonance imaging revealed a picture of diffuse leukomalacia with pseudocyst formation, which were considered a consequence of perinatal brain damage. Magnetic resonance imaging revealed a picture of diffuse leukomalacia with pseudocyst formation, which were considered a consequence of perinatal brain damage. Differential diagnosis was held between the early infantile epileptic encephalopathy (Ohtahara syndrome) and early myoclonic encephalopathy (Aicardi syndrome). However, etiology of the disease remained unclear. To eliminate inherited metabolic disease accompanied by epilepsy, Inherited Epilepsy Panel DNA sequencing was used. The results showed a homozygotic mutation on the exon 6 of MOCS2 gene, leading to deletion of amino acid in position 158 of the protein, which was described before in patients with molybdenum cofactor deficiency (OMIM: 252160).
The first review on the effectiveness of remote monitoring in cardiovascular patients was published in 2007, which is still relevant, reaching the peak during the Coronavirus disease 2019 (COVID-19) pandemic. Reduced availability of elective outpatient care, and sometimes reluctance of patients to visit the office due to the pandemic, required changes in ambulatory follow-up. In order to increase the availability of healthcare and reduce the mortality of Perm Krai population from cardiovascular diseases during the COVID-19 pandemic, a project for remote monitoring of high-cardiovascular-risk patients was developed and implemented.The developed remote monitoring project represents regular phone contacts with a patient included in the remote monitoring program, according to which the need for further face-to-face consultation, additional diagnostic tests and treatment strategy is determined. The working group of the project identified indications for including patients in remote monitoring, algorithms for phone contacts and management options depending on the responses received from patients.The project was launched in July 2020. Initially, it included five medical institutions, which selected 3901 patients.The results will be published as the project moves forward.
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