Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.

Growing evidence indicates that early and late postzygotic mosaicism can cause neurodevelopmental disorders (NDDs), but detection of low variant allele frequency (VAF) mosaic variants from blood remains a challenge. Data of 2162 patients with NDDs who underwent conventional genetic tests were reviewed and a deep sequencing was performed using a specifically designed mosaic next-generation sequencing (NGS) panel in the patients with negative genetic test results. Forty-four patents with neurocutaneous syndrome, malformation of cortical development, or nonlesional epileptic encephalopathies were included.

Spatiotemporal microstructural white matter changes in diffusion tensor imaging after transient focal ischemic stroke in rats.

Structural reorganization in white matter (WM) after stroke is a potential contributor to substitute or to newly establish the functional field on the injured brain in nature. Diffusion tensor imaging (DTI) is an imaging modality that can be used to evaluate damage and recovery within the brain. This method of imaging allows for in vivo assessment of the restricted movements of water molecules in WM and provides a detailed look at structural connectivity in the brain.

Diffusion-Perfusion Mismatch in Single Subcortical Infarction: A Predictor of Early Neurological Deterioration and Poor Functional Outcome.

Background/aims: Early neurological deterioration (END) is frequently observed and related to poor functional outcome in patients with single subcortical infarction (SSI). We evaluated the role of diffusion-perfusion mismatch (DPM) as a predictor of END and functional outcome in patients with SSI.

Methods: We retrospectively analyzed data for 274 patients with acute SSI.

Effects of Dietary Supplementation of Barodon, an Anionic Alkali Mineral Complex, on Growth Performance, Feed Utilization, Innate Immunity, Goblet Cell and Digestibility in Olive Flounder (Paralichthys olivaceus).

A 15-wk feeding trial was conducted to examine the supplemental effects of Barodon on growth performance, gastrointestinal histology, feed digestibility and innate immunity in olive founder. A basal commercial diet was used as a control and two other diets were prepared by spraying 0.1% or 0.

Cervicofacial tissue infarction in patients with acute invasive fungal sinusitis: prevalence and characteristic MR imaging findings.

Introduction: Tissue infarction is known as one of the characteristic features of invasive fungal sinusitis (IFS). The purpose of this study was to investigate the prevalence and characteristic MR imaging findings of cervicofacial tissue infarction (CFTI) associated with acute IFS.

Methods: We retrospectively reviewed MR images in 23 patients with histologically or microbiologically proven acute IFS.

Dynamic contrast-enhanced MRI for assessing therapeutic response of choroidal neovascularization in a rat model.

Purpose: We evaluated the potential of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) as a noninvasive biomarker of choroidal neovascularization (CNV) and its utility as a tool for monitoring therapeutic response in laser-induced rat CNV models.

Methods: CNV was induced in the right eyes of 14 rats using a laser. Rats (n = 7) were treated daily for 14 days with a candidate drug (KR-31831, 50 mg/kg of body weight) having antiangiogenic effects, whereas control rats (n = 7) were treated with the vehicle alone (10% cremophor, 10% absolute ethyl alcohol, and 80% saline).

Spindle cell lipoma of the head and neck: CT and MR imaging findings.

Introduction: Spindle cell lipoma (SCL) is an uncommon benign lipomatous tumor, most commonly occurring in the posterior neck and shoulder. The purpose of this study was to investigate the CT and MR imaging features of SCL in the head and neck.

Methods: CT (n = 5) and MR (n = 3) images of seven patients (five men and two women; mean age, 54 years) with surgically proven SCL in the head and neck were retrospectively reviewed.

Ossifying fibromyxoid tumor invading the spine: a case report and review of the literature.

Ossifying fibromyxoid tumors were first described in 1989. They are composed of small round cells dispersed in a myxoid matrix and contain bone, osteoid, and collagen. Bone invasion is very rare.

Epidermal growth factor receptor regulates osteoclast differentiation and survival through cross-talking with RANK signaling.

The epidermal growth factor receptor (EGFR) functions in various cellular physiological processes such as proliferation, differentiation, and motility. Although recent studies have reported that EGFR signaling is involved in osteoclast recruitment and formation, the molecular mechanism of EGFR signaling for the regulation of osteoclastogenesis remains unclear. We investigated the role of the EGFR in osteoclast differentiation and survival and show that the expression of the EGFR was highly up-regulated by receptor activator of nuclear factor-kappaB ligand (RANKL) during osteoclast differentiation.