Current medical research and opinion
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Aromatic L-amino acid decarboxylase deficiency (AADCd) is an ultra-rare genetic neurometabolic disorder caused by mutations in the DDC gene. ⋯ In terms of symptoms and healthcare resource utilization, the burden of illness of AADCd is substantial. This study provides insights into several aspects of the disease that are difficult to ascertain from published case reports.
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To describe the design of the CLARION post-approval safety study (EU PAS Register number, EUPAS24484) and provide a status update, including characteristics of patients included up to 1 May 2021. ⋯ By providing further information on adverse events of special interest during long-term follow-up, CLARION will assist neurologists and patients regarding treatment decision-making for management of relapsing MS.
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The role of personalized treatment approaches, including those based on genetic testing, are increasingly enabling informed decision-making to improve health outcomes. Research involving Indigenous Australians has been lagging behind, although this population experiences a higher prevalence of chronic disease and mental health disorders. ⋯ Indigenous Australians are under-represented in pharmacogenomics research despite well-documented epidemiological research demonstrating that Indigenous people globally experience greater risk of developing certain chronic diseases and more severe disease progression. Positive outcomes from this study highlight the importance of not only involving Indigenous participants, but providing leadership and governance opportunities for future genetics research.
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Gestational diabetes mellitus is a type of glucose intolerance that first manifests itself during pregnancy. A pregnant woman and her unborn child are at an increased risk of pregnancy complications and poor neonatal outcomes. Pregnancy diabetes affects one out of every 200 women. Therefore, this study aims to identify the determinants of gestational diabetes mellitus among pregnant women attending an antenatal care service in Gedeo Zone, Ethiopia. ⋯ Previous adverse pregnancy outcomes were found to be the main predictors of GDM. Women with gestational diabetes mellitus should be followed after delivery in order to monitor hyper-glycemic status.
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Aeromonads are gram-negative opportunistic bacteria, mainly found in aquatic environments. Hematologic patients are particularly at risk of Aeromonas soft tissue infections and septicemia, especially during chemotherapy-induced neutropenia. ⋯ In a previous paper we characterized the patient's aberration with cytogenetic and FISH analysis. Here, we provide details regarding the patient's rapidly progressing infection and underline the importance of maintaining high clinical suspicion of Aeromonas infections in acute leukemia. Given the unusually rapid progression of an infection caused by a rare non-resistant pathogen, and after considering data on the implication of metalloproteinase function in immune system regulation, a correlation between risk of severe infection and TAF15-ZNF384 aberrated acute lymphoblastic leukemia cannot be ruled out.