Long-segment tracheal stenosis with left pulmonary artery sling in a low- to middle-income country setting: Value of imaging and bronchoscopy: CASE REPORT. [PDF]
Goussard P +6 more
europepmc +1 more source
Clinical Impact of NOTCH3 Variant Location After First Stroke in CADASIL
ABSTRACT Objective Despite its monogenic origin, Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy exhibits marked variability in clinical expression and severity. Variants in the NOTCH3 gene, within epidermal growth factor‐like repeat domains 1–6 or 7–34, are known to influence disease onset, but their impact ...
Léa Aguilhon +5 more
wiley +1 more source
Impact of Optical Coherence Tomography Scan Pattern and Chorio-Scleral Interface Delineation on Choroidal Vascularity Index Measurements. [PDF]
Wong KYQ +4 more
europepmc +1 more source
LORDS OF THE RINGS: RING-WEARING, STATUS, AND IDENTITY IN THE AGE OF PLINY THE ELDER
openaire +1 more source
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
Amniotic Band Syndrome: A 14-Year-Old Follow-Up Case Report. [PDF]
Alsahil M +4 more
europepmc +1 more source
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller +14 more
wiley +1 more source
Overlapping type 2, barrier, and remodeling endotypes shape clinical expression in eosinophilic esophagitis. [PDF]
Wawrzeńczyk A +7 more
europepmc +1 more source
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw +5 more
wiley +1 more source
Estimated adherence to the Dapivirine Vaginal Ring and its associated factors among African women: A systematic review and meta-analysis. [PDF]
Dine RD +6 more
europepmc +1 more source

