A case series and literature review of thyroid cancer presenting with thyroid hot nodule. [PDF]
Abdalmahmuod EA +4 more
europepmc +1 more source
Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann +17 more
wiley +1 more source
Long-term mortality in women with a history of hypertensive disorders of pregnancy: a systematic review and meta-analysis. [PDF]
Gao D +8 more
europepmc +1 more source
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen +7 more
wiley +1 more source
Blocked by a clot: subserosal cecal hematoma causing bowel obstruction - a case report. [PDF]
Patrick N +3 more
europepmc +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Lamellar Ichthyosis in a Resource-Limited Setting: A Somaliland Case Report. [PDF]
Aw Hashi MO, Derie AM, Ahmed SI.
europepmc +1 more source
Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen +11 more
wiley +1 more source
Recessive Dystrophic Epidermolysis Bullosa in a Resource-Limited Setting: A Case Report From Mohamed Adam Sheikh Children's Teaching Hospital Hargeisa, Somaliland. [PDF]
Aw Hashi MO +4 more
europepmc +1 more source

