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Case Report: First Two Identified Cases of Fabry Disease in Central Asia
Conclusion: This is the first description of cases of Fabry disease in Central Asia. An extensive family pedigree enabled the identification of ten additional family members. Patients with rare genetic diseases often experience substantial delays in diagnosis due to their rarity and non-specific symptoms, which can negatively impact their management and delay treatment. FD may be difficult to diagnose because of the non-specificity of its early and later-onset symptoms and its X-linked inheritance. Raising awareness of clinicians is important for earlier diagnosis and optimal outcome of specific therapies.
Source: Frontiers in Genetics - April 27, 2021 Category: Genetics & Stem Cells Source Type: research

Sex Difference of Radiation Response in Occupational and Accidental Exposure
Conclusion and Outlook This review summarizes the data from major human studies on the health risks of radiation exposure and shows that sex can potentially influence the prolonged response to radiation exposure (Figure 1 and Tables 1, 2). These data suggest that long-term radiosensitivity in females is higher than that in males who receive a comparable dose of radiation. Our analysis of the literature agrees with the conclusions of the recent report on the Biological effects of ionizing radiation (BEIR VII) published in 2006 by the National Academy of Sciences (NAS), United States (National Research Council, 2006). The B...
Source: Frontiers in Genetics - May 2, 2019 Category: Genetics & Stem Cells Source Type: research