Long-term Effect of Cranioplasty on Overlying Scalp Atrophy.

Unlabelled: Scalp thinning over a cranioplasty can lead to complex wound problems, such as extrusion and infection. However, the details of this process remain unknown. The aim of this study was to describe long-term soft-tissue changes over various cranioplasty materials and to examine risk factors associated with accelerated scalp thinning.

Region-specific agreement in ASPECTS estimation between neuroradiologists and e-ASPECTS software.

Background And Purpose: The Alberta Stroke Program Early CT Score (ASPECTS) is a widely used measure of ischemic change on non-contrast CT. Although predictive of long-term outcome, ASPECTS is limited by its modest interobserver agreement. One potential solution to this is the use of machine learning strategies, such as e-ASPECTS, to detect ischemia.

Radiographic Evidence of Occult Intracranial Hypertension in Patients with Ménière's Disease.

Objectives (1) Describe the prevalence of radiographic signs of intracranial hypertension (ICH) in Ménière's disease (MD) and (2) compare the prevalence of radiographic signs of ICH in MD patients managed medically to those managed surgically. Study Design Case-control study. Setting Academic neurotologic practice.

Newborn and carrier screening for spinal muscular atrophy.

Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron (SMN1) gene, affecting approximately 1 in 10,000 live births. The homozygous absence of SMN1 exon 7 has been observed in the majority of patients and is being utilized as a reliable and sensitive SMA diagnostic test. Treatment and prevention of SMA are complementary responses to the challenges presented by SMA.

Assessment of liquid microbead arrays for the screening of newborns for spinal muscular atrophy.

Background: Spinal muscular atrophy is a common neurodegenerative disorder that has recently been considered for inclusion in the next generation of newborn screening regimens. We sought to validate liquid microbead arrays for the identification of affected individuals by direct DNA analysis.

Methods: Assays were created to detect the homozygous deletions in exon 7 of the SMN1 gene found in approximately 95% of affected individuals by use of 2 different microbead chemistries on the Luminex 200: MultiCode-PLx and Tag-It.