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Defective Slc7a7 transport reduces erythropoietin compromising erythropoiesis.
Mol Med
January 2025
Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Background: Lysinuric protein intolerance is a rare autosomal disorder caused by mutations in the Slc7a7 gene that lead to impaired transport of neutral and basic amino acids. The gold standard treatment for lysinuric protein intolerance involves a low-protein diet and citrulline supplementation. While this approach partially improves cationic amino acid plasma levels and alleviates some symptoms, long-term treatment is suggested to be detrimental and may lead to life-threatening complications characterized by a wide range of hematological and immunological abnormalities.
View Article and Find Full Text PDFWork-related grief and bereavement experiences of social and community service workers working with people experiencing social disadvantage: a rapid scoping review.
BMC Palliat Care
January 2025
Institute on Aging and Lifelong Health, University of Victoria, 3800 Finnerty Road, Victoria, BC, V8P 5C2, Canada.
Background: While an extensive body of research in palliative care exists on the experiences of grief and bereavement among family caregivers, much of this research is based on normative assumptions of who family caregivers are - housed, financially stable, and with extended family and/or friends to draw on for support. Research shows that in contexts of social disadvantage(e.g.
View Article and Find Full Text PDFKnights in shining armour and (M)others in life jackets: Women's experiences of advocating for care alone when suffering recurrent early pregnancy loss during the SARS-CoV-2 pandemic.
BMC Public Health
January 2025
Department of Women & Children's Health, King's College London, London, UK.
Background: Recurrent early pregnancy loss [rEPL] is a traumatic experience, marked by feelings such as grief and depression, and often anxiety. Despite this, the psychological consequences of rEPL are often overlooked, particularly when considering future reproductive health or approaching subsequent pregnancies. The SARS-CoV-2 pandemic led to significant reconfiguration of maternity care and a negative impact on the perinatal experience, but the specific impact on women's experience of rEPL has yet to be explored.
View Article and Find Full Text PDFGlobal meta-analysis shows action is needed to halt genetic diversity loss.
Nature
January 2025
International Union for the Conservation of Nature (IUCN) Conservation Genetics Specialist Group (CGSG), .
Mitigating loss of genetic diversity is a major global biodiversity challenge. To meet recent international commitments to maintain genetic diversity within species, we need to understand relationships between threats, conservation management and genetic diversity change. Here we conduct a global analysis of genetic diversity change via meta-analysis of all available temporal measures of genetic diversity from more than three decades of research.
View Article and Find Full Text PDFEfficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.
Endocr J
January 2025
Division of Diabetes and Endocrinology, Kobe University Hospital, Kobe 650-0017, Japan.
The use of asfotase alfa, a bone-targeted recombinant alkaline phosphatase (ALP) enzyme, for the treatment of adult-onset hypophosphatasia (HPP) remains controversial, particularly in patients without evident bone abnormalities. We report the case of a 41-year-old woman with a history of Graves' disease, who presented with progressive joint pain and severe fatigue. Despite the absence of bone lesions, the patient was diagnosed with HPP based on persistently low alkaline phosphatase levels, family history, and a novel heterozygous ALPL variant (p.
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