Outcomes of Patients with Newly Diagnosed Cardiac Myxoma: A Retrospective Multicentric Study

The patient database at the First Department of Internal Medicine in Martin, the Central Slovak Institute for Cardiac and Vascular Diseases in Banska Bystrica, and the National Slovak Institute of Cardiovascular Diseases in Bratislava was searched to identify patients with benign tumors of the heart seen during the 5-year period between 2011 and 2016. Forty-one patients with primary cardiac myxomas were identified and their medical records were reviewed for details pertaining to presenting symptoms, staging modalities, treatment approaches, and outcomes. Most of the studied patients were diagnosed with echocardiography (n=35, 85%). The occurrence of the tumor was higher in the female population (n=25, 61%). The most common presenting symptoms were dyspnoea (n=17, 42%), chest pain (n=3, 7%), or pain and paraesthesia of the limbs (n=2, 5%). Acute embolic event due to embolization of tumor fragments resulted in cerebral stroke (n=5, 12%). All patients were treated by resection. Only one comorbid patient died due to multiple-organ dysfunction syndrome two weeks after the resection. The most common postoperative complication was bleeding (n=2, 5%) and infection (n=2, 5%). The early diagnosis and appropriate treatment are often curative, with very low risk of recurrence. Postoperative survival is high

Prevalence and epidemiological characteristics of patients with diabetic retinopathy in Slovakia: 12-month results from the DIARET SK study.

PURPOSE:To evaluate the prevalence and epidemiological characteristics of diabetic retinopathy (DR) in Slovakian patients with Type 1 and 2 diabetes mellitus (DM) in the DIARET SK study. PATIENTS AND METHODS:An epidemiological multi-center survey that included 4,078 adult patients (aged ≥18 years) from 51 diabetologists and 47 ophthalmologists. Data were collected from February to December 2015. RESULTS:The final data set consisted of 4,014 patients; 3,700 were enrolled (Type 2 DM = 3,405, Type 1 DM = 295) using a quasi-random approach; 16 (Type 2 DM = 15, Type 1 DM = 1) patients in the pre-specified group had DM duration of 11.0 HbA1c in Type 1 DM (5.8%) than Type 2 (2.0%). The mean (SD) duration of Type 2 DM was shorter compared with Type 1 (7.5 [5.2] vs 10.3 [6.9] years). In Type 2 DM patients, there were 516 (15.5%) cases of DR, 19 (0.56%) of proliferative DR (PDR), and 106 (3.11%) of diabetic macular edema (DME). In Type 1 DM patients, there were 86 (29.15%) cases of DR, 10 (3.39%) PDR, and 12 (4.07%) DME. CONCLUSIONS:In Slovakian patients with DM, the duration of disease and higher HbA1c were the most prevalent factors that contributed to the development of DR and DME

A Functional Assay for the Determination of Heparin-Induced Thrombocytopenia via Flow Cytometry

Heparin-induced thrombocytopenia (HIT) is a life-threatening complication of heparin therapy (both unfractionated heparin and low-molecular-weight heparin). In our study, we examined a group of 122 patients with suspected HIT. The samples of all patients were analyzed in the first step using an immunoassay (ID-PaGIA Heparin/PF4, Hemos1L-Acustar HIT IgG, ZYMUTEST HIA Monostrip IgG) to detect the presence of antibodies against heparin–PF4 complexes (platelet factor 4). When the immunoassay was positive, the sample was subsequently analyzed for HIT with a functional flow cytometry assay, the HITAlert kit, the purpose of which was to demonstrate the ability of the antibodies present to activate platelets. A diagnosis of HIT can be made only after a positive functional test result. In this article, we present an overview of our practical experience with the use of the new functional method of analysis, HIT, with flow cytometry. In this work, we compared the mutual sensitivity of two functional tests, SRA and the flow cytometry HITAlert kit, in patients perceived as being at risk for HIT. This work aims to delineate the principle, procedure, advantages, pitfalls, and possibilities of the application of the functional test HITAlert using flow cytometry

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents

<div><p>Background</p><p>Inactivating mutations of the hypothalamic transcription factor singleminded1 (SIM1) have been shown as a cause of early-onset severe obesity. However, to date, the contribution of <i>SIM1</i> mutations to the obesity phenotype has only been studied in a few populations. In this study, we screened the functional regions of <i>SIM1</i> in severely obese children of Slovak and Moravian descent to determine if genetic variants within <i>SIM1</i> may influence the development of obesity in these populations.</p><p>Methods</p><p>The <i>SIM1</i> promoter region, exons and exon-intron boundaries were sequenced in 126 unrelated obese children and adolescents (2–18 years of age) and 41 adult lean controls of Slovak and Moravian origin. Inclusion criteria for the children and adolescents were a body mass index standard deviation score higher than 2 SD for an appropriate age and sex, and obesity onset at less than 5 years of age. The clinical phenotypes of the <i>SIM1</i> variant carriers were compared with clinical phenotypes of 4 <i>MC4R</i> variant carriers and with 27 unrelated <i>SIM1</i> and <i>MC4R</i> mutation negative obese controls that were matched for age and gender.</p><p>Results</p><p>Seven previously described <i>SIM1</i> variants and one novel heterozygous variant p.D134N were identified. The novel variant was predicted to be pathogenic by 7 <i>in silico</i> software analyses and is located at a highly conserved position of the SIM1 protein. The p.D134N variant was found in an 18 year old female proband (BMI 44.2kg/m²; +7.5 SD), and in 3 obese family members. Regardless of early onset severe obesity, the proband and her brother (age 16 years) did not fulfill the criteria of metabolic syndrome. Moreover, the variant carriers had significantly lower preferences for high sugar (<i>p</i> = 0.02) and low fat, low carbohydrate, high protein (<i>p</i> = 0.02) foods compared to the obese controls.</p><p>Conclusions</p><p>We have identified a novel <i>SIM1</i> variant, p.D134N, in 4 obese individuals from a single pedigree which is also associated with lower preference for certain foods.</p></div

Distribution of <i>SIM1</i> variants among carriers and <i>in silico</i> analyses.

<p>Distribution of <i>SIM1</i> variants among carriers and <i>in silico</i> analyses.</p

Pedigree of the family with the novel <i>SIM1</i> variant p.D134N.

<p>Squares represent males; circles represent females; filled symbols indicate obese individuals. Proband is indicated by an arrow. The text below each individual indicates mutational status (NM—heterozygous p.D134N carrier; NN—non-carrier), age at diagnosis of obesity, current age, and BMI (BMI SDS). ND—not determined.</p

Food preference for the novel SIM1 variant p.D134N carriers (proband, her father and brother) compared to unrelated obese adult controls.

<p>A) Food preference for the low fat, low carbohydrate and high protein food and B) Food preference for the high sugar food.</p