Introduction. The clinical picture of Wilson-Konovalov disease (WKD) is characterized by pronounced polymorphism and classical laboratory findings often do not allow to make diagnosis. The most reliable way to confirm the presence of WKD is to identify mutations in the ATP7B gene. Materials and methods. In the course of the research, we developed a method of genetic diagnostics, including realtime PCR to determine a point mutation in combination with fragment analysis to identify deletions and insertions. 20 patients were collected in whom the diagnosis of WKD was made basing on the results of clinical and laboratory criteria of the disease according to the Leipzig scoring system. All patients were genotyped with the developed technique. Anamnestic, clinical, and laboratory data were collected for 12 patients. Results. We detected the following aberrancies in patients from the group 1: heterozygous mutations according to H1069Q (60%), homozygous mutations according to H1069Q (30%), combination of mutations 3627_3630del.4/ H1069Q in heterozygous form (5%), combination of mutations1770insT/H1069Q in heterozygous form (5%). Discussion. Clinical feature of WKD is non-specific, and the combination of liver and nervous system damage typical for WKD, Kayser–Fleischer rings are far from being present in all patients or appear in the later stages of the disease. A considerable amount of false-negative results of WKD laboratory markers indicates the insufficient sensitivity of these research methods. The variability of clinical and laboratory markers of WKD delays the etiology diagnosis and the onset of pathogenetic therapy. Conclusion. The developed method of genetic diagnosis of WKD is recommended for all patients of the Russian population with suspected hepatic, neurological or mixed form of WKD in order to make a timely diagnosis and start treatment.
Given the high percentage of disability and mortality resulting from a stroke, search of new ways to improve early diagnosis and optimize therapeutic approaches is highly relevant. The article reviews the studies of NR2 antibodies to glutamate N-methyl-D-aspartate (NMDA) receptors as a biomarker in acute stroke. The review shows that this biomarker is suitable for determining the presence of ischemic process in the brain and the degree of destruction of brain tissue, both in the first hours of stroke and at follow-up. In addition, the analysis of NR2 antibodies can be informative to predict the worsening, the increase in the locus size, which can contribute to the timely correction of treatment and will improve the effectiveness of the therapy. The prognostic potential of NR2 antibodies can be used for personalized therapeutic approach. However, currently the lack of studies of NR2 antibodies in acute stroke requires further study of this biomarker.
Background. Application of a biomarker panel during the acute period of the ischemic stroke (IS) can contribute to a more accurate and prompter diagnostics and verification of the optimal approach to a patients’ management.Objective. We aimed to clarify values of neuron-specific enolase (NSE), glial fibrillar acidic protein (GFAP) and antibodies for NMDA receptor’s NR2-subunit (NR2-antibodies) in the acute period of IS, to compare with such values in patients without IS, to assess their relationship with severity of neurological deficit and short-term outcome and also to establish sensitivity and specificity of the biomarker panel.Design and methods. 63 patients with IS and 31 people (11 with chronic brain ischemia and 20 healthy individuals) as controls were included. Results. NSE and GFAP values in IS group exceeded reference values at the onset of disease, lowering significally by 10-14 day, while NR2-antibodies’ values were lower at the onset of the disease compared with controls, rising by 10-14 day. In patients with unfavourable short-term outcome higher levels of NSE, GFAP and NR2-antibodies were found. A panel of such biomarkers has higher sensitivity and specificity than each of them individually.Conclusion. Researched substances can be used in a biomarker panel for IS diagnostics, brain damage monitoring, patient’s condition evaluation and short outcome prognosing.
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