ABSTRACT Background Accessing brain magnetic resonance imaging (MRI) can be challenging, especially for underserved patients, which may lead to disparities in neurological diagnosis. Method This mixed‐methods study enrolled adults with one of four neurological disorders: mild cognitive impairment or dementia of the Alzheimer type, multiple sclerosis ...
Maya L. Mastick +19 more
wiley +1 more source
Current perspective of venous thrombosis in the upper\ud extremity [PDF]
Venous thrombosis of the upper extremity is a rare disease. Therefore, not as much is known about risk factors, treatment and the risk of recurrence as for venous thrombosis of the leg.
Doggen, C.J.M. +3 more
core +3 more sources
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Multiple Myeloma : an update on disease biology and therapy [PDF]
Multiple myeloma is a malignancy of immunoglobulin producing plasma cells. Clinical features include bone pain due to lytic bone lesions or pathological fractures, anemia, symptomatic hypercalcemia, renal insufficiency, recurrent infections and ...
Cook, Rachel J., Dingli, David
core
Rhabdomyolysis in an HIV cohort: epidemiology, causes and outcomes. [PDF]
BackgroundThe Literature on rhabdomyolysis in the HIV-positive population is sparse and limited. We aimed to explore the incidence, patient characteristics, etiologies and outcomes of rhabdomyolysis in a cohort of HIV-positive patients identified through
Atta, Mohamed G +6 more
core +1 more source
The role of compression therapy in the treatment of venous leg ulcers.
Epidemiological data regarding venous leg ulcers, specifically low healing rates and frequent recurrences (occurring in 20-70% of the cases), seems surprising regarding recent progress in the management of this complication.
P. Mościcka +3 more
semanticscholar +1 more source
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Halting Progression of Stasis Dermatitis: Community Perspectives and Strategies for Prevention [PDF]
Complications of stasis dermatitis including venous ulcers, osteomyelitis, and cellulitis all significantly increase morbidity and mortality of disease.
Robbins, Allison B
core +1 more source
Adverse events and safety issues associated with physical activity and exercise for adults with osteoporosis and osteopenia: A systematic review of observational studies and an updated review of interventional studies [PDF]
Objectives: We conducted a systematic review to identify adverse effects of physical activity and/or exercise for adults with osteoporosis/osteopenia. We synthesised evidence from observational studies, and updated three previously published systematic ...
Clark, Emma M. +7 more
core +3 more sources
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source

