HPDL Variant Type Correlates With Clinical Disease Onset and Severity
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee+19 more
wiley +1 more source
ScientISST CORE: A novel hardware development platform for biomedical engineering. [PDF]
Pereira L+4 more
europepmc +1 more source
ABSTRACT Objective Increasing evidence shows that patients with intracerebral hemorrhage (ICH) can achieve better‐than‐expected outcomes with aggressive therapy. However, real‐world long‐term data, patient‐centered outcomes, and societal measures after maximal ICH treatment are lacking.
Anne Mrochen+11 more
wiley +1 more source
A review of the statistical analysis of randomised controlled trials conducted within OCTRU. [PDF]
Ooms A+8 more
europepmc +1 more source
ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis
ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib+16 more
wiley +1 more source
Harder, Better, Faster, Stronger? Residents Seeing More Patients Per Hour See Lower Complexity. [PDF]
Jewell CM+6 more
europepmc +1 more source
ABSTRACT Objective Sleep spindles are an electrophysiological fingerprint of the sleeping human brain. They can be described in terms of duration, frequency, amplitude, and density, and vary widely according to age and sex. Spindles play a role in sleep and wake functions and are altered in several neurological and psychiatric disorders.
Julien Coelho+8 more
wiley +1 more source
Integrated patterns of residence and movement create testable hypotheses about fish feeding migrations. [PDF]
Mather ME+3 more
europepmc +1 more source
Dysphagia and Mortality Risk in Individuals With Primary Progressive Apraxia of Speech
ABSTRACT Individuals with primary progressive apraxia of speech (PPAOS) often develop parkinsonism and dysphagia. To evaluate the clinical correlates and impact of dysphagia in this population, we compared enrollment visit data between individuals with (n = 12) versus individuals without (n = 44) dysphagia symptoms.
Gabriela Meade+8 more
wiley +1 more source
Benefits of ESO stroke unit certification: A report from a Tertiary Stroke Center in Bucharest, Romania. [PDF]
Tiu V+7 more
europepmc +1 more source