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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
J Clin Immunol
November 2024
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.
Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.
View Article and Find Full Text PDFThe Home-Based Experiences of Palliative and Hospice Care for Children and Caregivers (EXPERIENCE) Measure: Evaluation of Psychometric Properties.
J Pain Symptom Manage
October 2024
Department of Pediatrics (J.Y.B., C.F.), Children's Hospital of Philadelphia; Philadelphia, Pennsylvania, USA; Department of Medicine (J.A.S.), Department of Pediatrics (C.F.), Perelman School of Medicine, University of Pennsylvania; Philadelphia, Pennsylvania, USA.
Context: Home-based pediatric palliative and hospice care (PPHC) supports the hundreds of thousands of children with serious illness and complex care needs and their families in the home setting. Considerable variation, however, exists in the provision and quality of home-based PPHC in the U.S.
View Article and Find Full Text PDFNew Faces at the Bedside: Death Doulas, Vigilers, and Companions.
Omega (Westport)
October 2022
School of Humanities, Marymount University, Arlington, VA, USA.
A growing number of nonmedical caregivers seek to improve dying in the United States. They call themselves end-of-life doulas, death midwives, soul guides, compassionate companions, and vigilers, among other names. These new faces at the bedside share a common goal of comforting the dying and their loved ones.
View Article and Find Full Text PDFPalliative care: pathway in primary health care in Brazil.
Cad Saude Publica
September 2022
Universidade Estadual de Londrina, Londrina, Brasil.
In 2022, an important international report was published on the "value of death" not only in the field of health, but in relation to human societies in general. This report proposed to reimagine systems related to end of life in which death is understood not only as a physiological event but also as a relational and spiritual phenomenon with a value of its own and inseparable from life. It identifies the low priority given by most governments worldwide to the issue of alleviating suffering and supporting bereavement, evidenced by the low investment in palliative care.
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