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Palliative Care Spiritual Assessment and Goals-of-Care Discussions in the Neurocritical Care Unit: Collaborating with Chaplains.
Neurocrit Care
January 2025
Pennsylvania Hospital, University of Pennsylvania Health System, Philadelphia, PA, USA.
Introduction: Neuropalliative care is an emerging subspecialty of palliative care designed to address the unique supportive care needs of patients with serious neurological illness, including those receiving neurocritical care in intensive care units. Spiritual care is a vital component in the provision of holistic and humanized care to these patients. A chaplain who is specially trained and credentialed in care for those with serious illness is the health care professional responsible for making spiritual assessments and contributes to the plan of care, facilitating decision making, and guiding other clinicians in the provision of generalist spiritual care.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFAdvances in cancer genomics and precision oncology.
Genes Genomics
January 2025
Department of Smart Farm and Agricultural Industry, Kangwon National University, Chuncheon, 24341, Republic of Korea.
Background: Next-generation sequencing has revolutionized genome science over the last two decades. Indeed, the wealth of sequence information on our genome has deepened our understanding on cancer. Cancer is a genetic disease caused by genetic or epigenetic alternations that affect the expression of genes that control cell functions, particularly cell growth and division.
View Article and Find Full Text PDFAnalysis of choroidal markers of activity in pachychoroid disease spectrum.
Graefes Arch Clin Exp Ophthalmol
January 2025
Londrina State University, Avenida Robert Koch, 60, Londrina, CEP 86038-440, Paraná, Brazil.
Purpose: To detect choroidal markers of disease activity in eyes with chronic active unilateral pachychoroid disease spectrum (PDS) compared to the non-active contralateral eyes, based on multimodal imaging and particularly indocyanine green angiography (ICGA).
Methods: An observational retrospective case-control study. The study evaluated individuals diagnosed with chronic active unilateral PDS (group 1) by comparing the eyes with the non-active fellow eyes (group 2).
Role of astrocytes connexins - pannexins in acute brain injury.
Neurotherapeutics
January 2025
Departamento de Medicina Intensiva, Facultad de Medicina, Pontificia Universidad Católica de Chile, Chile. Electronic address:
Acute brain injuries (ABIs) encompass a broad spectrum of primary injuries such as ischemia, hypoxia, trauma, and hemorrhage that converge into secondary injury where some mechanisms show common determinants. In this regard, astroglial connexin and pannexin channels have been shown to play an important role. These channels are transmembrane proteins sharing similar topology and form gateways between adjacent cells named gap junctions (GJs) and pores into unopposed membranes named hemichannels (HCs).
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