INF2‐Related Charcot–Marie–Tooth Disease in a Japanese Cohort: Genetic and Clinical Insights
ABSTRACT Background INF2 mutations cause focal segmental glomerulosclerosis (FSGS) and Charcot–Marie–Tooth disease (CMT). Accurate genetic diagnosis is critical, as INF2‐related FSGS is typically resistant to immunotherapy yet rarely recurs after transplantation, and its associated neuropathy can mimic treatable immune‐mediated disorders such as ...
Chikashi Yano +27 more
wiley +1 more source
P-68 Views and experiences of palliative care healthcare professionals of supporting patients to manage digital legacy as part of advance care planning [PDF]
Sarah Stanley +3 more
openalex +1 more source
A multilevel integrative approach to hospital case mix and capacity planning. [PDF]
Hospital case mix and capacity planning involves the decision making both on patient volumes that can be taken care of at a hospital and on resource requirements and capacity management.
Demeulemeester, Erik, Ma, Guoxuan
core
The Business Case for Community Paramedicine: Lessons from Commonwealth Care Alliance's Pilot Program [PDF]
Mobile integrated health care and community paramedicine (MIH-CP) programs expand the role of traditional emergency medical services personnel to address non-emergency needs and bring outpatient primary and urgent care into patients' homes.
Dominick Esposito +6 more
core
A learning community approach to identifying interventions in health systems to reduce colorectal cancer screening disparities. [PDF]
Although colorectal cancer (CRC) screening in the United States has been increasing, screening rates are not optimal, and there are persistent disparities in CRC screening and mortality, particularly among minority patients.
DiCarlo, Melissa +6 more
core +2 more sources
Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics
ABSTRACT Objective Hereditary spastic paraplegias (HSP) are rare neurodegenerative disorders marked by spasticity and lower limb weakness. The most common type, SPG4, is usually autosomal dominant and caused by SPAST gene variants, typically presenting as pure HSP.
Gregorio A. Nolasco +18 more
wiley +1 more source
Patient perspectives on quality family planning services in underserved areas
Ongoing challenges impede efforts to improve the quality of family planning services in underserved communities, which by definition lack sufficient numbers of physicians and other health professionals.
Debora Goldberg +8 more
doaj
How Has ‘What Matters to You’ Been Used for Patient Care? A Scoping Review
Introduction Asking patients ‘What matters to you?’ (WMTY) was first introduced in 2012 as an approach to person‐centred care and has since been integrated into healthcare frameworks internationally.
Carrie Janerka +3 more
doaj +1 more source
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun +95 more
wiley +1 more source
Malpractice and patient safety descriptors: an innovative grid to evaluate the quality of clinical records [PDF]
Introduction: The medical record contains all the health information related to the patient’s clinical condition and its evolution during hospitalization.
Allocca, Amalia +11 more
core +1 more source

