128 research outputs found
A Phenomenology of Religion?
This research explores the possibility of a phenomenology of religion that is ontological, founded on Martin Heidegger’s philosophical thought. The research attempts to utilise Heidegger’s formulation of phenomenology as ontology while also engaging in a critical relation with his path of thinking; as a barrier to the phenomenological interpretation of the meaning of Religion. This research formulates Religion as an ontological problem wherein the primary question becomes: how are humans, in our being, able to be religious and thus also able to understand the meaning of ‘religion’ or something like ‘religion’? This study focuses on the problem of foundation; of whether it is possible to provide an adequate foundation for the study of religion(s) via the notion ‘Religion’. Further, this study also aims to explore the problem of methodological foundation; of how preconceptions of the meaning of Religion predetermine how religion(s) and religious phenomena are studied. Finally, this research moves toward the possibility of founding a regional ontological basis for the study of religion(s) insofar as the research explores the ontological ground of Religion as a phenomenon. Due to the exploratory and methodological/foundational emphasis of the research, the thesis is almost entirely preliminary. Herein, the research focuses on three main issues: how the notion of Religion is preconceived, how Heidegger’s phenomenology can be tailored to the phenomenon of Religion, and how philosophical thought (in this case, Pre-Socratic philosophy) discloses indications of the meaning of Religion. Pre-Socratic thought is then utilised as a foundation for a preliminary interpretation of how Religion belongs-to humans in our being. This research provides two interrelated theses: the provision of an interpretation of Religion as an existential phenomenon, and an interpretation of Religion in its ground of being-human. With regard to the former, I argue that Religion signifies a potential relation with the ‘originary ground’ of life as meaningful. Accordingly, the second interpretation discloses the meaning of Religion as grounded in being-human; that for humans in our being, the meaning of life is an intrinsic question/dilemma for us. This being-characteristic, I argue, can be called belief
Impact of metabolic syndrome on ST segment resolution after thrombolytic therapy for acute myocardial infarction
Objectives: It has been shown that metabolic syndrome is associated with poor short-term outcome and poor long-term survival in patients with acute myocardial infarction. We aimed to investigate the effect of metabolic syndrome on ST segment resolution in patients received thrombolytic therapy for acute myocardial infarction.Materials and methods: We retrospectively analyzed 161 patients, who were admitted to our clinics with acute ST-elevated-myocardial infarction and received thrombolytic therapy within 12 hours of chest pain. Metabolic syndrome was diagnosed according to National Cholesterol Education Program Adult Treatment Panel III criteria. Resolution of ST segment elevation was assessed on the baseline and 90-minute electrocardiograms. ST segment resolution ≥70% was defined as complete resolution.Results: Metabolic syndrome was found in 56.5% of patients. The proportion of patients with metabolic syndrome who achieved complete ST segment resolution after thrombolysis was significantly lower than that of patients without metabolic syndrome (32.9% versus 58.6%, p=0.001). On multivariate analysis metabolic syndrome was the only independent predictor of ST segment resolution (p=0.01, Odds ratio=2.543, %95 CI:1.248-5.179)Conclusion: The patients with metabolic syndrome had lower rates of complete ST segment resolution after thrombolytic therapy for acute myocardial infarction. This finding may contribute to the higher morbidity and mortality of patients with metabolic syndrome
Impact of transcatheter aortic valve implantation on the left ventricular mass
Background: Aortic stenosis (AS) induces pressure overload of the left ventricle (LV) and results in left ventricular hypertrophy. The remodeling of the LV in patients with AS is a comÂplex process including structural and functional disturbances. After aortic valve replacement, reverse remodeling of LV begins. The aim of this study was to evaluate the impact of transcatheter aortic valve ımplantation (TAVI) on LV mass (LVM) in early and mid-term follow-ups after the procedure.
Methods and Results: We enrolled consecutive 75 patients who underwent successful TAVI. Transthoracic echocardiography was performed prior to TAVI and at hospital discharge, in the 1st month and 6th month of the follow-ups. The mean LV ejection fraction improved significantly after TAVI (54.2 ± 15.0% to 57.3 ± 11.7%, p < 0.001). There were no significant changes between the baseline and discharge mean LVM and LVM index values (LVMI; p = 0.1). However, LVMI decreased significantly in the 1st month of follow-up compared to baseline (123.3 ± 20.3 to 127.9 ± 21.3 g/m2, respectively, p < 0.001). Also, significant regression of LVM was observed at the 1st month of follow-up compared to baseline (228.3 ± 33.5 g vs. 236.5 ± 34.2 g, respectively, p < 0.001). Furthermore, the significant regression in both of LVM and LVMI continued at 1st and 6th months of the follow-ups (p < 0.001).
Conclusions: A significant regression of LVM was observed after TAVI. These changes may have prognostic value in patients with severe AS
Successful Management of Ornithine Transcarbamylase Deficiency Presenting with Reversible Metabolic Stroke in a Child
Impact of transcatheter aortic valve implantation in patients with reduced ejection fraction
Background: Aortic stenosis increases with age. According to guidelines, left ventricular systolic dysfunction is an indication for aortic valve replacement, even in asymptomatic patients. There is no clear data on the application of transcatheter aortic valve implantation (TAVI), which is a method showing continuous improvement in recent years, in patients with reduced ejection fraction (REF) having a poor prognosis for surgical aortic valve replacement. We therefore aimed to investigate the effect of TAVI on left ventricular ejection fraction (LVEF) and also its efficacy and safety in patients with REF. Methods and results: The study included 104 patients who underwent transfemoral TAVI in our clinic. The patients were divided into two groups: LVEF ≤ 45% (REF group, n = 28) and LVEF > 45% (preserved ejection fraction [PEF] group, n = 76). Follow-up measureÂments were performed at baseline, discharge, 1st, 6th and 12th months. No statistical difference was found between the groups with respect to complications and mortality rates. A statistically significant difference was detected in LVEF after TAVI, either in all patients (53.9 ± 14.6, 57.0 ± 11.4, 59.4 ± 8.4, 60.4 ± 6.8, 63.2 ± 3.9, respectively, at baseline, discharge, 1st, 6th and 12th months, p < 0.001) or in the groups separately. A statistically significant increase in LVEF (p < 0.001) was determined at discharge, 1st, 6th and 12th months, whereas LVEF increased in all follow-ups of the PEF group, however this elevation reached a statistical significance only at the 1st month (p = 0.04). Conclusions: Our study has shown the positive effect of TAVI on LVEF and its effective and safe applicability in patients with REF.
Siblings with Ethylmalonic Encephalopathy: Case Report
Deficiency of mitochondrial sulfur dioxygenase (ETHE1) causes a rare inborn error of metabolism, ethylmalonic encephalopathy, which is characterized by early-onset encephalopathy, chronic hemorrhagic diarrhea, recurrent petechiae, orthostatic acrocyanosis, defective cytochrome C oxidase because of hydrogen sulfide accumulation and death in the first years of life. Biochemical hallmarks of the disease are high level of lactate, C4-C5-acylcarnitines in blood and markedly elevated urinary excretion of methylsuccinic and ethylmalonic acids. We report on two siblings who were admitted to a pediatric metabolic unit with acrocyanosis, chronic diarrhea and psychomotor retardation later diagnosed as ethylmalonic encephalopathy. Molecular analyses revealed a homozygous for p.R163Q (c.488 G>A) mutation in ETHE1 gene
Immediate recovery of the left atrial and left ventricular diastolic function after transcatheter aortic valve implantation: A transesophageal echocardiography study
Background: Chronic increased afterload due to severe aortic stenosis (AS) results in comÂpensatory concentric left ventricular (LV) hypertrophy and LV dysfunction. These in turn cause remodeling of the left heart. The aim of this study was to investigate the acute effect of transcatheter aortic valve implantation (TAVI) on left atrial (LA) mechanics and LV diastolic function.
Methods: The study consisted of a total of 35 consecutive patients (mean age was 77.7 ± 5.0 years, 25 female) undergoing TAVI. All TAVI procedures have been performed under the transesophageal echocardiography (TEE) guidance. Before and 24 h after TAVI, all patients underwent transthoracic echocardiography (TTE) and mitral inflow velocities with pulsed-wave (PW) Doppler including early filling wave (E), late diastolic filling wave (A), and E/A ratio were obtained. LV diastolic function was also explored by pulsed tissue Doppler imaging (TDI). Early (E’) and late (A’) diastolic annular velocities, E’/A’ ratio and E/E’ ratio were obtained. In addition, during the procedure before and minutes after the valve implantation, the left atrial appendage-peak antegrade flow velocity (LAA-PAFV) was measured and recorded with TEE.
Results: Compared with baseline, the mean mitral E, septal E’ and E’/A’ ratio increased significantly after TAVI. In addition, the LAA-PAFV increased significantly within minutes of TAVI (32.45 ± 10.7 cm/s vs. 47.6 ± 12.6 cm/s, p < 0.001).
Conclusions: TAVI improves LV diastolic function and LA performance immediately
QT Dispersion in the Severe Aortic Stenosis, before and after Transaortic Valve Implantation
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive genetic disorder affecting the biosynthesis of dopamine, a precursor of both norepinephrine and epinephrine, and serotonin. Diagnosis is based on the analysis of CSF or plasma metabolites, AADC activity in plasma and genetic testing for variants in the DDC gene. The exact prevalence of AADC deficiency, the number of patients, and the variant and genotype prevalence are not known. Here, we present the DDC variant (n = 143) and genotype (n = 151) prevalence of 348 patients with AADC deficiency, 121 of whom were previously not reported. In addition, we report 26 new DDC variants, classify them according to the ACMG/AMP/ACGS recommendations for pathogenicity and score them based on the predicted structural effect. The splice variant c.714+4A>T, with a founder effect in Taiwan and China, was the most common variant (allele frequency = 32.4%), and c.[714+4A>T];[714+4A>T] was the most common genotype (genotype frequency = 21.3%). Approximately 90% of genotypes had variants classified as pathogenic or likely pathogenic, while 7% had one VUS allele and 3% had two VUS alleles. Only one benign variant was reported. Homozygous and compound heterozygous genotypes were interpreted in terms of AADC protein and categorized as: i) devoid of full-length AADC, ii) bearing one type of AADC homodimeric variant or iii) producing an AADC protein population composed of two homodimeric and one heterodimeric variant. Based on structural features, a score was attributed for all homodimers, and a tentative prediction was advanced for the heterodimer. Almost all AADC protein variants were pathogenic or likely pathogenic
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