Long-term Effect of Cranioplasty on Overlying Scalp Atrophy.

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. METHODS: A retrospective review of patients treated with isolated cranioplasty between 2003 and 2015 was conducted. To limit confounders, patients with additional scalp reconstruction or who had a radiologic follow-up for less than 1 year were excluded. Computed tomography or magnetic resonance imaging was used to measure scalp thickness in identical locations and on the mirror image side of the scalp at different time points. RESULTS: One hundred one patients treated with autogenous bone (N = 38), polymethylmethacrylate (N = 33), and titanium mesh (N = 30) were identified. Mean skull defect size was 104.6 ± 43.8 cm2. Mean length of follow-up was 5.6 ± 2.6 years. Significant thinning of the scalp occurred over all materials (P < 0.05). This was most notable over the first 2 years after reconstruction. Risk factors included the use of titanium mesh (P < 0.05), use of radiation (P < 0.05), reconstruction in temporal location (P < 0.05), and use of a T-shaped or "question mark" incision (P < 0.05). CONCLUSIONS: Thinning of the native scalp occurred over both autogenous and alloplastic materials. This process was more severe and more progressive when titanium mesh was used. In our group of patients without preexisting soft-tissue problems, native scalp atrophy rarely led to implant exposure. Other risk factors for scalp atrophy included radiation, temporal location, and type of surgical exposure.

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. Here, we compared e-ASPECTS with manual scoring by experienced neuroradiologists for all 10 individual ASPECTS regions. MATERIALS AND METHODS: We retrospectively reviewed 178 baseline non-contrast CT scans from patients with acute ischemic stroke undergoing endovascular thrombectomy. All scans were reviewed by two independent neuroradiologists with a third reader arbitrating disagreements for a consensus read. Each ASPECTS region was scored individually. All scans were then evaluated using a machine learning-based software package (e-ASPECTS, Brainomix). Interobserver agreement between readers and the software for each region was calculated with a kappa statistic. RESULTS: The median ASPECTS was 9 for manual scoring and 8.5 for e-ASPECTS, with an overall agreement of κ=0.248. Regional agreement varied from κ=0.094 (M1) to κ=0.555 (lentiform), with better performance in subcortical regions. When corrected for the low number of infarcts in any given region, prevalence-adjusted bias-adjusted kappa ranged from 0.483 (insula) to 0.888 (M3), with greater agreement for cortical areas. Intraclass correlation coefficients were between 0.09 (M1) and 0.556 (lentiform). CONCLUSION: Manual scoring and e-ASPECTS had fair agreement in our dataset on a per-region basis. This warrants further investigation using follow-up scans or MRI as the gold standard measure of true ASPECTS.

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. Subjects and Methods Adult MD patients (aged ≥17 years) treated from 2011 to 2015 were reviewed. Inclusion required magnetic resonance imaging (MRI) of the head and follow-up >6 months. Patients with intracranial tumors, mass effect, trauma, previous intracranial surgery, and glaucoma were excluded. MD patients were separated by administered treatment into medical and surgical subgroups. Cochlear implant (CI) recipients served as radiographic controls. Eighty-four MD patients (46 surgical, 38 medical) and 37 CI controls were assessed. MRI measurements assessed for empty/partial sella (ES/PS), dilated/tortuous optic nerve sheath (ONS), and posterior globe flattening (PGF). Results Mean age was 53.8 ± 1.3 years and median body mass index (BMI) was 28.2 kg/m2. Of the patients, 64% were female and 92% were white. MRI findings in the MD cohort were as follows: ES/PS, 46.4%; ONS change, 42.8%; and PGF, 8.3%. The prevalence of ONS change was higher in MD patients than in controls (42.8% vs 13.5%, P = .003). The surgical MD group had higher prevalence of ONS change (52%) compared with the medical group (31.5%, P = .05) and controls (13.5%, P = .0004). The surgical group had a higher prevalence of ≥2 simultaneous MRI findings compared with medical MD patients (39% vs 10%, P = .01) and controls (14%, P = .01). Conclusion MD patients demonstrate a high prevalence of radiographic signs of ICH. MD patients who required surgery had a greater prevalence of radiographic signs of ICH compared with non-MD patients and medically managed MD patients.

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. Even though a specific therapy for SMA is not currently available, a newborn screening test may allow the child to be enrolled in a clinical trial before irreversible neuronal loss occurs and enable patients to obtain more proactive treatments. Until an effective treatment is found to cure or arrest the progression of the disease, prevention of new cases through accurate diagnosis and carrier and prenatal diagnosis is of the utmost importance. The goal of population-based SMA carrier screening is to identify couples at risk for having a child with SMA, thus allowing carriers to make informed reproductive choices. During this study we performed two pilot projects addressing the clinical applicability of testing in the newborn period and carrier screening in the general population. We have demonstrated that an effective technology does exist for newborn screening of SMA. We also provide an estimate of the carrier frequency among individuals who accepted carrier screening, and report on patient's knowledge and attitudes toward SMA testing.

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. A series of 367 blood spots including 164 from affected individuals, 46 from known carriers, and 157 from unaffected individuals were then analyzed with each assay. RESULTS: The MultiCode-PLx assay required 4.2 h to perform and provided correct identification of all 164 samples from affected individuals. Correct exclusion was also made for all 46 carrier and 157 unaffected individual samples. The Tag-It assay required 6.8 h, detected all samples from affected individuals, and excluded all but 1 (99.5%) of the samples from carriers and unaffected individuals. Neither method was sensitive to increasing copy numbers of the SMN2 gene. CONCLUSIONS: Both methods showed high sensitivity and specificity for the detection of patients with spinal muscular atrophy. For both methods, ample DNA was extracted from all blood spots for analysis, and SMN2 copy numbers did not interfere. Liquid bead arrays represent a robust method for DNA analysis in newborn screening laboratories.