Association of the C-Reactive protein gene (CRP) rs1205 C>T polymorphism with aortic valve calcification in patients with aortic stenosis

Elevation in C-reactive protein (CRP) levels have been shown in patients with aortic valve stenosis (AS). Minor allele of the CRP gene (CRP) rs1205 C>T polymorphism has been associated with lower plasma CRP concentrations in cohorts of healthy and atherosclerotic patients. Considering the existing similarities between atherosclerosis and AS, we examined the effect of CRP rs1205 C>T polymorphism on the AS severity. Three hundred consecutive Caucasian patients diagnosed with AS were genotyped for the rs1205 C>T polymorphism using the TaqMan assay. Severity of the AS was assessed using transthoracic echocardiography. The degree of calcification was analyzed semi-quantitatively. Carriers of the rs1205 T allele were characterized by elevated serum CRP levels (2.53 (1.51–3.96) vs. 1.68 (0.98–2.90) mg/L, p < 0.001) and a higher proportion of the severe aortic valve calcification (70.4% vs. 55.1%, p = 0.01) compared with major homozygotes. The effect of CRP rs1205 polymorphism on CRP levels is opposite in AS-affected than in unaffected subjects, suggesting existence of a disease-specific molecular regulatory mechanism. Furthermore, rs1205 variant allele predisposes to larger aortic valve calcification, potentially being a novel genetic risk marker of disease progression

The CIA 3.0 and EDE-Q questionnaire as a tool for assessing eating disorders among students of the Academy of Applied Sciences in Nowy Sacz

Introduction Eating disorders are a serious problem affecting people of all ages and genders, cultures and origins, affecting not only the physical sphere, but above all the human psyche. In many cases, they are still taboo, as eating disorder issues can often be mistaken for trivialities. Their psychopathology is very complex and it is impossible to pinpoint a single cause. However, it is indisputable that food intake is related to the physiological, but also psychological and social spheres. The core of psychopathology is a distorted perception of the importance of figure, weight, appearance and their constant control. Aim The aim of the study was to determine the scale of eating disorders among students of ANS in Nowy Sącz and the impact of the COVID-19 pandemic on the change in body weight of students. Material and methods The research tool was a questionnaire developed on the basis of the EDE-Q 6.0 and CIA 3.0 questionnaires (Christopher et al., 2008), consisting of open and closed questions regarding the perception of the importance of one's figure, body weight, appearance and their control. Based on the students' answers, the body mass index before and after the pandemic was calculated COVID-19, and also analyzed answers that may indicate problems with nutrition and attitude to your own body. The study was conducted online via the Google Forms online survey platform, in the period from 7 to 21 October 2022, on a representative group of 255 students of the Academy of Applied Sciences in Nowy Sącz. Results The survey participants were mostly young women (average age 21.24), undergraduate full-time students, living in rural areas. There were no significant differences in body mass index (BMI) between men and women before and during the pandemic. In the study group, the question concerning the influence of diet, physical exercise or feelings regarding nutrition, figure and body weight deserve attention, with more than 50% of students indicating the influence of the above-mentioned factors. factors for: critical thinking about yourself, source of nervousness, worry, making you feel guilty, or feeling ashamed of yourself. In the questions regarding the sense of satisfaction with their figure, body weight and appearance, over 50% of students indicated a lack of satisfaction, i.e. a negative perception of themselves in terms of body weight (striving to lose weight, fear of gaining weight, feeling of being fat, limiting amount of food eaten). Conclusion Based on the conducted research, it can be concluded that students of the ANS in Nowy Sącz are at risk of eating disorders. It is therefore worth taking preventive measures aimed at raising awareness of the scale of the problem and popularizing the available forms of psychological support in this area

Plasma fibrin clot properties as determinants of bleeding time in human subjects : association with histidine-rich glycoprotein

Aims. Fibrin formation and histidine-rich glycoprotein (HRG) are involved in primary hemostasis and wound healing. Little is known regarding the relationship of clot characteristics, bleeding time, and wound healing. Methods and Results. We studied 154 patients with coronary artery disease (CAD) and 154 subjects free of CAD matched for age, obesity, and current smoking. We evaluated bleeding time (BT) using standardized skin incisions on a forearm, along with plasma clot permeability (s), clot lysis time (CLT), and histidine-rich glycoprotein (HRG). Compared with controls, BT was 45% shorter in CAD cases. CAD patients had 32% lower s and 17% longer CLT as well as 50% lower HRG compared with controls (all ). After adjusting for potential confounders, s and HRG levels were independent predictors of prolonged BT in CAD patients (OR 23.70, 95% CI 4.65-120.8 and OR 10.27, 95% CI 2.05-51.31, respectively) and controls (OR 10.89, 95% CI 2.31-51.11 and OR 4.54, 95% CI 1.07-19.27, respectively). Scar formation (, 25.6%) was independently predicted by both short and prolonged BT in CAD cases (OR 21.87, 95% CI 7.41-64.55 and OR 10.17, 95% CI 2.88-35.97) and controls (OR 5.94, 95% CI 2.29-15.41 and OR 14.76, 95% CI 4.29-50.77, respectively). Conclusions. The study shows that plasma fibrin clot density and HRG may influence BT and that appropriate skin wound healing is associated with medium BT. Translational Perspective. Elucidation of the complex relationships between plasma fibrin clot phenotype and wound healing might have important practical implications

Novel splice site mutation in the PROS1 gene in a Polish patient with venous thromboembolism : c.602-2delA, splice acceptor site of exon 7

We identified a novel splice site mutation of the PROS1 gene in a Polish family with protein S (PS) deficiency and explored the molecular pathogenesis of this previously undescribed variant. A novel mutation was detected in a 26-year-old woman with a history of venous thromboembolism (VTE) provoked by oral contraceptives. Her family history of VTE was positive. The sequence analysis of the PROS1 gene was performed in the proband and the proband’s family. The proband and their asymptomatic father had lower free PS levels (45% and 50%, respectively) and PS activity (48% and 44%, respectively). Total PS levels were normal (65.6% and 62.4%, respectively). The sequence analysis of the PROS1 gene revealed the presence of heterozygous deletion at the nucleotide position c.602-2 in intron 6, just upstream of exon 7, detected in the proband and her father. This variant alters the splice acceptor site of exon 7, and, according to the in silico prediction, it is highly likely to cause in-frame exon 7 skipping. We also presented follow-up data of two other Polish patients with PS deficiency associated with splice site mutations in PROS1 gene

Wczesne wyniki leczenia skolioz idiopatycznych z zastosowaniem gorsetu dynamicznego SpineCor

Wstęp: Skolioza idiopatyczna to trójpłaszczyznowa deformacja kręgosłupa. Leczenie uzależnione jest od wielu czynników, spośród których wielkość skrzywienia i stopień dojrzałości kostnej wydają się być najbardziej istotne. W przypadku progresujących skrzywień o kącie <40° zalecane jest stosowanie gorsetu. Dostępnych jest wiele rodzajów gorsetów, najczęściej o sztywnej konstrukcji. Gorset dynamiczny SpineCor to system elastycznych taśm, które po założeniu bezpośrednio korygują deformację kręgosłupa nieograniczając jego ruchomości. Cel pracy: Celem pracy jest przedstawienie wczesnych wyników leczenia skolioz idiopatycznych z zastosowaniem gorsetu dynamicznego SpineCor. Materiał i metodyka: Kryterium rozpoczęcia leczenia gorsetem była obecność progresującego skrzywienia kręgosłupa u chorych z dojrzałością kostną według Rissera 0-3. Aplikacja gorsetu odbywało się według założeń metody. Badaną grupę stanowiło 42 chorych, 36 dziewcząt i 6 chłopców. Wiek w chwili rozpoczęcia leczenia wynosił średnio 11,9 lat. Okres obserwacji wynosił średnio 11 miesięcy. Wyjściowy kąt skrzywienia w odcinku piersiowym wynosił średnio 33,1°, zaś w odcinku lędźwiowym 29,4°. Badana grupa została podzielona na podgrupy na podstawie: wielkości wyjściowego skrzywienia, lokalizacji skrzywienia, płci. Wyniki oceniano jako korekcję (zmniejszenie kąta o >=5°), stabilizację (zmiana kąta +/- 5°) lub progresję (zwiększenie kąta o >=5°). Wyniki: Wielkość kąta skrzywienia w ostatniej kontroli w odcinku piersiowym wyniosła średnio 29,7°, zaś w odcinku lędźwiowym 25,5°. U 21 chorych skrzywienie uległo korekcji (50%), 14 osiągnęło stabilizację (33,3%) a 7 progresję (16,6%). Najlepsze wyniki osiągnięto w grupie chorych z wyjściowym kątem <25° (p < 0,05) - 60% chorych z korekcją. Przeciwnie w grupie chorych z wyjściowym kątem >45° tylko 37,5% osiągnęło korekcję. Nie zanotowano znaczących różnic w wynikach leczenia w zależności od płci. Wnioski: Gorset SpineCor stanowi dobrą alternatywę dla sztywnych gorsetów, zwłaszcza w przypadkach małych skrzywień. Pozwala on na zachowanie ruchomości kręgosłupa. Tego typu gorset jest dobrze akceptowalny przez młodych chorych. Niezbędne są dalsze długofalowe obserwacje celem ostatecznych wniosków.Introdcution: Idiopathic scoliosis is a three-dimensional deformation of the spine. Treatment of this condition depends on many factors, with curve magnitude (Cobb angle) and skeletal maturity (Risser sign) being the most important indices. In progressing curves of <40°, bracing is recommended. Different types of braces are available, most of them are of a rigid type. The SpineCor dynamic brace is a system of elastic bands designed to directly correct the spinal column deformity without restricting motion of the spine. Aim of the paper: The aim of this paper is to present early results of adolescent idiopathic scoliosis treatment with the SpineCor brace. Material and methods: Inclusion criteria for brace the application included the presence of a progressing curve in a skeletally immature child (Risser 0 - 3). The SpineCor brace was applied according to the principles of the method. The study group comprised 42 patients: 36 girls, 6 boys. The mean age at brace application was 11.9 years. The mean follow-up was 11 months. The mean initial curve size in the whole group was 33.1° in the thoracic spine and 29.4° in the lumbar spine. The evaluated group was subsequently divided into different subgroups depending on: initial curve size, curve type and sex. Results were classified as correction (decrease of curve size of >=5°), stablisation (curve change +/- 5°) or progression (increase of curve size of >=5°). Results: Mean curve size at the final follow-up was 29.7° in the thoracic spine and 25.5° in the lumbar spine. Twenty one patients improved (50%), 14 had curve stabilisation (33.3%) and 7 progressed (16.6%). The best results were achieved in curves lower than 25° Cobb angle (p < 0.05) - 60% of patients improved. In contrast, in the over-45° group, only 37.5% of patients improved. No significant differences were found between treatment results with regard to sex. Conclusion: SpineCor brace seems to be a good alternative for rigid braces, especially in minor curves. It enables preservation of motion of the spine. This type of brace is easily accepted by young patients. Further follow-up is needed to present long-term results

Increased activity of lipoprotein-associated phospholipase A2 in non-severe asthma

Background Given increased risk of cardiovascular events in asthma we hypothesized that lipoprotein-associated phospholipase A2 (Lp-PLA2), an enzyme involved in atherosclerosis, is associated with proinflammatory and prothrombotic blood alterations in this disease. Methods In 164 adult asthmatics (63 with severe asthma) we measured plasma Lp-PLA2 activity using the PLAC test. We determined its relations to inflammation and prothrombotic blood alterations. Results In asthma, Lp-PLA2 was inversely related to the age (β = −0.1 [−0.18 to −0.02]) and was lower in women (n = 122 [74%], 205 [182–242] vs. 243 [203–262] nmol/min/ml, p = 0.001). Interestingly, Lp-PLA2 correlated negatively with the asthma severity score (β = −0.15 [−0.23 to −0.07]), being 10.3% higher in those with non-severe (mild or moderate) asthma (n = 101, 62%) as compared to the severe disease subtype (224 [191–261] vs. 203 [181–229], p = 0.006 after adjustment for potential confounders). Lp-PLA2 activity was positively related to the levels of low-density lipoprotein (β = 0.1 [0.02–0.18]), triglycerides (β = 0.11 [0.03–0.19]) and glucose (β = 0.1 [0.02–0.18]) and inversely to the tumor necrosis factor α (β = −0.27 [−0.35 to −0.2]), high sensitivity C-reactive protein (β = −0.1 [−0.19 to −0.02]) and fibrinogen (β = −0.12 [−0.21 to −0.03]), as well as prothrombin (β = −0.16 [−0.24 to −0.08]), and parameters describing thrombin generation potential, such as endogenous thrombin potential (β = −0.14 [−0.21 to −0.06]) and peak thrombin generated (β = −0.2 [−0.28 to −0.12]). Conclusions Elevated Lp-PLA2 activity in non-severe asthmatics suggests increased atherosclerotic risk in this group. Lower Lp-PLA2 activity accompanied by its inverse relationship to inflammatory or prothrombotic blood biomarkers observed in turn in severe asthmatics might be related to the pathogenesis of more severe asthma phenotype