Bratisl Med J
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Inherited metabolic disorders of glycoconjugate metabolism include congenital disorders of glycosylation (CDG) - disorders in biosynthesis of glycoconjugates; and some of the lysosomal storage diseases (LSD) - disorders of their degradation. This review summarizes the brief characteristics of metabolic pathways of synthesis and catabolism of glycoconjugates as well as the latest update of relevant enzymatic defects discovered in population. Every year the number of known subtypes of these disorders dramatically increases as a result of high-throughput analytical infrastructure applied. ⋯ Thus, disorders of glycoconjugate metabolism should be considered and ruled out in any unexplained syndrome. The collaboration between scientists and physicians plays an important role in the progress of such personalized diagnostics, that is essential mainly for rare diseases (Tab. 2, Fig. 1, Ref. 49). Keywords: congenital disorders of glycosylation, lysosomal storage disorders.
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To compare clinical parameters and quality of life in patients with pulmonary arterial hypertension (PAH) at the time of diagnosis, at the time of LenusPro pump implantation and during intravenous treptostinil treatment. ⋯ In patients who do not tolerate subcutaneous treptostinil treatment, the use of the LenusPro implantable pump results in a significant improvement in quality of life with an acceptable safety profile (Tab. 2, Fig. 2, Ref. 19).
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Observational Study
Retrospective study assessing efficacy and safety of left atrial appendage occlusion.
To describe the initial experience with Amplatzer Amulet in left atrial appendage occlusion in Slovakia. To evaluate procedural efficacy and safety. ⋯ Left atrial appendage occlusion was shown to be an effective and safe alternative to anticoagulation therapy in patients with atrial fibrillation, at a high risk of stroke and bleeding. The procedure is safe, when performed carefully even by less experienced cardiologists (Tab. 6, Fig. 4, Ref. 29). Text in PDF www.elis.sk Keywords: atrial fibrillation, stroke, haemorrhage, left atrial appendage occlusion, Amplatzer Amulet.
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Phosphorus-31 magnetic resonance spectroscopy (31P MRS) is currently not accepted as a diagnostic tool in the neuro-oncological practice, although it provides useful non-invasive information about biochemical processes ongoing in the intracranial tumours. This pilot study was aimed to present the diagnostic capability of the 31P MRS in brain tumour examination, even its application on clinical 1.5T MR scanner. Seven patients with brain tumorous lesions (four glioblastomas, one ependymoma, and two lung metastasis) underwent multivoxel in vivo 31P MRS performed on clinical 1.5 T MR scanner within measurement time of 20 minutes. ⋯ High energetic tumorous tissue demands leading to anaerobic metabolic turnover were present as a significant decline in phosphocreatine ratios and adenosine triphosphates. Intracellular pH evaluation showed a tumorous tendency to alkalize. 31P MRS enables the non-invasive metabolic characterization of intracranial tumours and thus appears to be a clinically useful method for the determination of ongoing tumour pathomechanisms (Fig. 2, Ref. 26). Keywords: brain tumour, 31P MRS, 1.5 Tesla; energetic metabolism.