[Status epilepticus in a pregnant patient with a previously unrecognized POLG-associated disease].

-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.

Dual-tracer PET/CT imaging to determine tumor heterogeneity in a patient with metastatic ACTH-secreting neuroendocrine neoplasm: A case report and literature review.

Introduction: We present a case of a patient with disseminated ACTH-secreting neuroendocrine neoplasm with biologic heterogeneity between a primary tumor and metastases. The diagnosis was obtained and multidisciplinary management was conducted with a positron emission tomography/computed tomography (PET/CT) scan with Gallium-68 [68Ga]-labeled dodecanetetraacetic acid-tyrosine-3-octreotate ([68Ga]-DOTA-TATE) and Fluor-18 [18F]-fluorodeoxyglucose ([18F]-FDG).

Case Report: A PET/CT scan revealed a difference between [68Ga]-DOTA-TATE and [18F]-FDG uptake in primary tumor and several metastases.

Analysis of blood pressure-heart rate feedback regulation under non-stationary conditions: beyond baroreflex sensitivity.

The feedback regulation of blood pressure and heart rate is an important indicator of human autonomic function usually assessed by baroreflex sensitivity (BRS). We suggest a new method yielding a higher temporal resolution than standard BRS methods. Our approach is based on a regression analysis of the first differences of inter-heartbeat intervals and blood pressure values.

Desmin mutations in a St. Petersburg cohort of cardiomyopathies.

Several desmin mutations have been described over the past few years in patients with dilated and restrictive cardiomyopathy, often in association with distal myopathy. However, the role of desmin mutations as a cause of various types of cardiomyopathy is still undetermined. The aim of this study was to analyse the frequency of desmin mutations in patients with cardiomyopathy identified and diagnosed in the St.