Bratisl Med J
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Congenital disorders of glycosylation (CDG) belong to an expanding group of rare genetic metabolic disorders caused by defects in the complex chemical enzymatic process of glycosylation. The study is aimed at presenting a case report of a premature dysmorphic newborn, clinical presentation of the condition, the way it was diagnosed and treated, as well as its comparison with the known cases. ⋯ CDG have an extremely wide clinical spectrum and should be considered in any child with unexplained developmental delay, failure to thrive, seizures, and abnormalities in liver enzymes, coagulation and immunologic factors. The treatment of most forms of CDG depends upon numerous factors such as specific symptoms present, severity of the disorder, age and overall health of the patients and tolerance to certain medications or procedures. For these reasons, the treatment is specific for every individual. It is based on the symptoms and requires a coordination of efforts of a team of specialists (Tab. 4, Fig. 3, Ref. 19).
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It remains unclear, why only some patients form alloantibodies against foreign RBC antigens. Transfusion of red blood cell (RBC) products and pregnancy are the most relevant causes of immunization against RBC alloantigens. Here we investigated the relationship between RBC alloantibodies, Rh phenotype, and HLA phenotype among patients with multiple RBC alloantibodiesMETHODS: In a group of 124 multi-responders ‒ including both pregnant women and transplant recipients ‒ we analysed the distribution of HLA-Class II variants in subgroups of multi-responders to RBC alloantigens according to their Rh status. ⋯ Our present findings showed that RBC multispecific alloimmunization was associated with particular HLA-Class II variants based on Rh status (Tab. 3, Ref. 22).
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This study was aimed to investigate the risk factors for mortality in patients with COVID-19. ⋯ Findings showed that elderly with comorbidities such as cerebrovascular diseases had an increased risk of death. Some complications such as: pneumonia, septic shock, ARDS, AHF, and AKF played crucial roles as well death (Tab. 2, Ref. 25).
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The geriatric nutritional risk index (GNRI) is a simple and objective nutritional assessment tool for elderly patients. Lower GNRI values are associated with a worse prognosis in heart failure with reduced ejection fraction (HFrEF). Our aim is to investigate the relationship between malnutrition and follow-up cardiovascular (CV) events in HFrEF. ⋯ The GNRI value may have a potential role for predicting future events, especially NVAF in patients with HfrEF (Tab. 4, Fig. 2, Ref. 27).
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To assess the diagnostic significance of magnetic resonance enterography (MRE) and conventional enteroclysis (CE) in patients with complicated and/or advanced stage of Crohn's disease. ⋯ CE and MRE are mutually complementary imaging modalities in CD staging, evaluation of activation findings, and detection of complications (Tab. 3, Fig. 8, Ref. 23).