[Iron deficiency anemia in a patient with hereditary hemorrhagic telangiectasia. Case report].

Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant disease. It is characterized by vascular dysplasia with the formation of telangiectasias on the skin, mucous membranes of the respiratory and digestive tracts, arteriovenous malformations (AVMs) in the internal organs, which is manifested by bleeding. Diagnosis is based on Curacao criteria: recurrent and spontaneous nosebleeds, multiple telangiectases on the characteristic localizations, AVMs in one or more of the internal organs, a family history of HHT (i.

[A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom - skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report].

Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes. The change in transthyretin conformation, leading to its destabilization and amyloidogenicity, can be acquired (wild type, ATTRwt) and hereditary due to mutations in the gene (variant, ATTRv) [1, 2]. Hereditary ATTR-amyloidosis has an earlier onset and greater phenotypic diversity.

[The levels of certain circulating microRNAs in hypertrophic cardiomyopathy are associated with echocardiographic parameters].

Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease; it is characterized by left ventricular (LV) hypertrophy that cannot be explained by hemodynamic causes. It is believed that sarcomere dysfunction underlies the pathogenesis of this disease, however, only half of patients with the HCM phenotype have mutations in sarcomere-encoding genes. HCM is distinguished by both high genetic and clinical heterogeneity and therefore more studies are seeking to investigate a regulation of gene expression in HCM and how the abnormalities in this process can affect disease phenotype.

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder characterized by marked clinical and genetic heterogeneity. Ethnic groups underrepresented in studies may have distinctive characteristics. We sought to evaluate the clinical and genetic landscape of Russian HCM patients.

Overlapping Phenotype of Adult-Onset -Cardiomyopathy in the Setting of Two Novel Variants.

Inherited cardiomyopathies (CMPs) are fairly common causes of morbidity and mortality, particularly, in young individuals. In substantial number of cases, only morphological diagnostic criteria cannot distinguish one CMP from another because of incomplete penetrance, advanced stage of the disease, or overlapping phenotypes. Genetic testing has become a mandatory tool for definite diagnosis that is required for family screening, individual prognosis, and personalized treatment strategy in routine practice.

Etiology and efficacy of anti-microbial treatment for community-acquired pneumonia in adults requiring hospital admission in Ukraine.

Background And Aim: Empiric therapy of community-acquired pneumonia (CAP) remains the standard care and guidelines are mostly based on published data from the United States or Europe. In this study, we determined the bacterial etiology of CAP and evaluated the clinical outcomes under antimicrobial treatment of CAP in Ukraine.

Methods: A total of 98 adult subjects with CAP and PORT risk II-IV were recruited for the study.

Circulating miR-499a-5p Is a Potential Biomarker of -Associated Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is the most common inherited myocardial disease with significant genetic and phenotypic heterogeneity. To search for novel biomarkers, which could increase the accuracy of HCM diagnosis and improve understanding of its phenotype formation, we analyzed the levels of circulating miRNAs—stable non-coding RNAs involved in post-transcriptional gene regulation. Performed high throughput sequencing of miRNAs in plasma of HCM patients and controls pinpointed miR-499a-5p as one of 35 miRNAs dysregulated in HCM.

Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With -Compound Heterozygous Variant.

Hypertrophic cardiomyopathy (HCM) is one of the most common hereditary diseases, and it is associated with fatal complications. The clinical heterogeneity of HCM requires risk prediction models to identify patients at a high risk of adverse events. Most HCM cases are caused by mutations in genes encoding sarcomere proteins.

SURGICAL STABILIZATION OF MULTIPLE RIB FRACTURES AND MULTIPLE LONG BONE FRACTURES OF LOWER EXTREMITIES IN POLYTRAUMA PATIENTS.

Objectives - determine the impact of rib osteosynthesis on the incidence of complications development and mortality in patients with multiple rib fractures and multiple long bone fractures of lower extremities. A prospective controlled trial was conducted from June 2015 to December 2019, and included adult patients with polytrauma, Injury Severity Score (ISS) ≥18p, multiple long bone fractures of lower extremities, one of which is the femur, and multiple rib fractures. All included patients were divided into two groups: in Group I - 17 patients who underwent surgical stabilization of rib fractures, Group II - 24 included patients treated without rib osteosynthesis.

[The hardware techniques for the restoration of the gait stereotype in the patients following total hip replacement: the personalized approach].

Background: total hip replacement has long ago become the «golden standard» for the treatment of dysplastic coxarthrosis in thousands of the patients receiving it every year. In the meantime, the analysis of the specialized literature gives evidence of the lack of a systematic and personified approach to the rehabilitation treatment.

Aim: The objective of the present study was to improve medical rehabilitation of the patients following the total hip replacement and to develop the personalized programs for walking modality reconstruction taking into consideration the age and the body weight of the patients.

[Clinical evaluation of the effectiveness of cholinesterase inhibition with neuromidin in the treatment of primary glaucoma patients].

Aim: to investigate neuromidin effectiveness in the treatment of patients with primary glaucoma and compensated intraocular pressure (IOP).

Material And Methods: A total of 40 patients (80 eyes) were examined. Of them, 10 eyes with early glaucoma, 36 eyes with moderate-stage glaucoma, 33 eyes with advanced glaucoma, and 1 eye with end-stage glaucoma.