👤 Sabahattin Gündüz

Prosthetic valve thrombosis (PVT) is a critical and life-threatening condition driven by multifactorial etiologies, including genetic predispositions. The study was designed as a single-center retrospective manner. Echocardiographic features and genetic test including factor II/prothrombin (G20210A), factor V Leiden (G1691A), factor V R2 (A4070G), apolipoprotein (Apo) B-100 (G10708A), ApoE (C112R), ApoE (R158C), methylenetetrahydrofolate reductase (MTHFR) C677T, MTHFR A1298C, factor XIII G103T (V34L), β-fibrinogen (455G>A), PAI-1 4G/5G, and HPA-1 GPIIIa (T196C) genotyping variations were assessed. We performed genetic tests on 175 patients with PVT (biologically women [n = 124, 70.9%], with a mean age of 49.8 ± 13.1 years) and 101 patients (biologically women [n = 57, 56.4%], with a mean age of 54.7 ± 13.6 years) without thrombus formation. The thrombosis group was significantly younger compared with controls (p = 0.004). The percentage of patients with mechanical aortic valves was significantly lower in the thrombosis group compared with controls (22.3% vs 34.7%, p = 0.025). A significant difference was observed between the thrombosis and control groups regarding the genotype ratios of factor II/prothrombin (G20210A) (heterozygous, 6.8% vs 1%, p = 0.043) and HPA-1 GPIIIa (T196C) (homozygous mutant, 7.8% vs 0%, p = 0.034). In addition, there was a significant association of heterozygous MTHFR (A1298C) variation with obstructive thrombosis compared with nonobstructive thrombosis (46.9% vs 29.2%, p = 0.046). In conclusion, this is the first study to report a potential association between genetic variants, including HPA-1 GPIIIa (T196C), factor II/prothrombin (G20210A), MTHFR (A1298C), and PVT, necessitating extensive further research and additional clinical consideration. Show less

Genetic and numerous epidemiologic studies have identified lipoprotein (a) [Lp(a)] as a risk factor for atherothrombotic diseases. The structure of Lp(a) is similar to plasminogen and tissue plasminogen activator and it competes with plasminogen for its binding site, leading to reduced fibrinolysis. Furthermore, since Lp(a) stimulates the secretion of plasminogen activator inhibitor-1, it may lead to thrombogenesis. In this cross-sectional study, we aimed to investigate Lp(a) levels in patients with mechanical prosthetic valve thrombosis (MPVT). Blood samples for Lp(a) determination were obtained from 80 MPVT patients (median age: 48.5 (39-59.75) years; 47 male) and 75 age and sex matched controls (median age: 52 (39-63) years; 44 male) with normally functioning mechanical prosthetic valves. The Lp(a) levels in the PVT group were significantly higher than in the controls [22(16.2-39.4) vs. 6.9(2.9-24.6) mg/dL, p < 0.001]. Elevated Lp(a) levels, recent history of subtherapeutic anticoagulation, history of cerebrovascular accidents (CVA) and a low value of international normalized ratio on admission were found to be the independent predictors of PVT. Lp(a) levels above 19.6 mg/dL predicted PVT with a sensitivity of 65% and a specificity of 71% (AUC:0.767; 95%CI: 0.687 to 0.847; p < 0.001). Lp(a) levels were significantly higher in PVT patients with a history of CVA [42.0 (23.6-53.6) vs. 21.1 (16.1- 36.2) mg/dL, p = 0.012]. Elevated Lp(a) levels may be associated with MPVT. The assessment of plasma Lp(a) levels in patients with prosthetic heart valves may provide additive information regarding the risk of PVT and CVA. Show less

Around 70 percent of cases of Primary Ovarian Insufficiency (POI) etiology remain unexplained. The aim of our study is to contribute to the etiology and genetic background of POI. A total of 37 POI patients and 30 women in the reproductive period were included in this prospective, case-control study between August 2020 and December 2021. The women were examined for 36 genes with next-generation sequencing (NGS) panel. Gene variations were detected in 59.5 percent of the patients in the case group. Show less

Neuronal ceroid lipofuscinoses (NCLs) are a broad class of inherited lysosomal storage disorders. Known mutations in at least 13 different genes can result in NCL with variable ages of onset, symptoms, and pathologic findings. Generally, these patients experience cognitive and motor decline, seizures, visual impairment, and premature death. Pathologically, NCL patients display heterogeneous histologic abnormalities, but consistently exhibit neuronal loss, reactive gliosis, and lysosomal accumulation of autofluorescent storage material or lipopigment. Juvenile-onset NCL has been classically referred to as Batten disease. By far the most prevalent NCL is Herein, we describe a 16-year-old patient with LysoSM-509 is a biomarker which is elevated especially in Niemann Pick Type C. We can consider that a high LysoSM-509 level might be also an indicator of NCL, especially NCL type 3. Show less