Results 41 to 50 of about 27,300 (256)
Interpreting the effects of DNA polymerase variants at the structural level
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi +7 more
wiley +1 more source
Usefulness of Tilt Testing in Children with Syncope: A Survey of Pediatric Electrophysiologists
The role of tilt table testing as a diagnostic modality in children with unexplained syncope is unclear. We sent a questionnaire to members of the Pediatric and Congenital Electrophysiology Society to assess the current practice pattern.
Anjan S. Batra, Seshadri Balaji
doaj
Syncope is difficult to definitively diagnose, even with tilt-table testing and beat-to-beat blood pressure measurements, the gold-standard. Both are qualitative, subjective assessments.
Nicholas L. DePace +8 more
doaj +1 more source
Background Athletic underperformance is characterized by fatigue and an inability to sustain a consistent exercise workload. We describe five elite swimmers with prolonged fatigue and athletic underperformance.
Lindsay S. Petracek +3 more
doaj +1 more source
Drug resistance limits treatment success in a subset of lung cancers driven by ROS1 gene alterations. Using patient‐derived cells and computer simulations, we studied three key mutations and how they affect five targeted drugs. The mutations reduced drug effectiveness in different ways by altering protein structure and behavior.
Farhan Ul Haq +8 more
wiley +1 more source
Unconfined interfacial friction of Geosynthetic Cementitious Composite Mats [PDF]
Geosynthetic Cementitious Composite Mats (GCCMs) are flexible, cementitious material-filled geosynthetics that harden on hydration to form thin concrete layers and are primarily used for surface erosion protection applications.
Church Lee +2 more
doaj +1 more source
Tilt-table test: its role in modern practice [PDF]
Syncope is a major healthcare problem with significant morbidity, mortality and healthcare cost. It is a common symptom with a complex pathophysiology and, therefore, several aetiologies. Tilt-table testing (TTT) is an important, yet perhaps not widely-used, test that forms part of the management of syncope.
Kulwinder S, Sandhu +3 more
openaire +2 more sources
Enzymes of the 2‐hydroxyacyl‐CoA lyase group catalyze the condensation of formyl‐CoA with aldehydes or ketones. Thus, by structural adaptation of active sites, practically any pharmaceutically and industrially important 2‐hydroxyacid could be biotechnologically synthesized. Combining crystal structure analysis, active site mutations and kinetic assays,
Michael Zahn +4 more
wiley +1 more source
Orthostatic and Supine Blood Pressures Are Associated with White Matter Hyperintensities in Parkinson Disease [PDF]
Background and Purpose: Several reports on the elderly population have suggested that orthostatic hypotension is associated with white matter hyperintensities (WMH); however, little information is available on patients with Parkinson’s disease (PD ...
Yoon-Sang Oh +2 more
doaj +1 more source
Objective: Orthostatic symptoms in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) may be caused by an abnormal reduction in cerebral blood flow.
C. (Linda) M.C. van Campen +2 more
doaj +1 more source

