Phenotypic Landscape of Schizophrenia-Associated Genes Defines Candidates and Their Shared Functions.

Genomic studies have identified hundreds of candidate genes near loci associated with risk for schizophrenia. To define candidates and their functions, we mutated zebrafish orthologs of 132 human schizophrenia-associated genes. We created a phenotype atlas consisting of whole-brain activity maps, brain structural differences, and profiles of behavioral abnormalities. Phenotypes were diverse but specific, including altered forebrain development and decreased prepulse inhibition. Exploration of these datasets identified promising candidates in more than 10 gene-rich regions, including the magnesium transporter cnnm2 and the translational repressor gigyf2, and revealed shared anatomical sites of activity differences, including the pallium, hypothalamus, and tectum. Single-cell RNA sequencing uncovered an essential role for the understudied transcription factor znf536 in the development of forebrain neurons implicated in social behavior and stress. This phenotypic landscape of schizophrenia-associated genes prioritizes more than 30 candidates for further study and provides hypotheses to bridge the divide between genetic association and biological mechanism.

Long-term adjuvant metronomic chemotherapy in a dog with recurrent maxillofacial osteosarcoma.

Osteosarcoma (OSA) is the most common malignant bone tumour in dogs; however, OSA of the maxilla is uncommon compared to appendicular OSA. Oral melanoma also commonly occurs in dogs with frequent distant metastasis. The role of adjuvant chemotherapy has been questioned in maxillary OSA and melanoma. A 17-year-old English Cocker Spaniel was referred with a growing mass on the right maxilla and a right lower lip mass. Osteosarcoma was diagnosed after partial maxillectomy, and the right lower lip mass was diagnosed as oral melanoma. Metronomic chemotherapy (MC) was performed, and the number of doses was tapered due to side effects at 5 weeks after initiation of MC. After 130 weeks of MC, chemotherapy was suspended due to kidney disease. After the suspension of chemotherapy, findings suggesting recurrence and metastasis were detected. The dog suddenly died 193 weeks after surgery, which was 8-14 times longer than the expected survival time. To the best of our knowledge, this is the first case report of successful long-term combination therapy, including surgery and MC, in a dog with maxillary OSA and lip melanoma. Our results show that the survival time can be greatly extended if MC is performed with proper management.

Scalpellum occulta: A rare case of dorsal spinal arachnoid web without the scalpel sign.

Spinal arachnoid web is a rare condition characterized by extramedullary bands of arachnoid tissue at the level of the dorsal thoracic spinal cord that may lead to progressive, permanent neurological deficits. To date, this condition has been radiographically characterized by a scalpel sign, which has been pathognomonic in all reported cases of spinal arachnoid webs. In this case, we report the first known patient with confirmed spinal arachnoid web without radiographic evidence of the scalpel sign. In reporting our finding, we encourage a higher clinical suspicion for spinal arachnoid web in patients presenting with progressive thoracic myelopathy following trauma, and radiographic evidence of ventrally displaced spinal cord and turbulent cerebrospinal fluid flow, even in the absence of a scalpel sign.

The Vecta 46 intermediate catheter for mechanical thrombectomy of distal medium vessel occlusions: A single-center experience.

INTRODUCTION: With emerging evidence supporting the clinical efficacy and safety of mechanical thrombectomy (MT) for distal medium vessel occlusions (DMVOs), MT devices specifically designed to navigate through smaller caliber and more delicate tortuous distal cerebrovasculature are required. This study describes our single-center experience using the AXS Vecta 46 intermediate catheter for first-line thromboaspiration of DMVOs. METHODS: We identified all patients who underwent MT using the Vecta 46 for first-line thromboaspiration for primary or secondary DMVOs. We collected baseline clinical data, angiographic and clinical outcomes, as well as procedural complications. The primary outcome in question was the rate of successful recanalization, which was defined as a modified Thrombolysis in Cerebral Infarction score of ≥2b. RESULTS: We identified 43 patients who underwent MT using the Vecta 46 catheter for thromboaspiration of 54 DMVOs. Intervened vessels included the M2 (23/54), M3 (19/54), and M4 (6/54) branches of the middle cerebral artery, A2 (1/54), A3 (1/54), and A4 (1/54) branches of the anterior cerebral artery, and P1 (1/54), P2 (1/54), and P4 (1/54) branches of the posterior cerebral artery. The median number of passes for primary DMVOs was 2 (IQR: 1-3) and 1 (IQR: 1-1.25) for secondary DMVOs. The rate of successful recanalization was 100% (18/18) for primary DMVOs and 80.6% (29/36) for secondary DMVOs. First-pass effect (FPE) was noted in 55.6% (30/54) of all primary and secondary DMVO cases. Improved short-term clinical outcomes were observed in both the primary (National Institute of Health Stroke Scale [NIHSS] shift: -5 [IQR: -14.25 to -0.25]) and secondary (NIHSS shift: -5 [IQR: -10 to -2]) DMVO groups. A total of six patients died during their hospitalization, though none were deemed procedural-related. CONCLUSIONS: Our study demonstrates the safety and efficacy of the Vecta 46 intermediate catheter for thromboaspiration of both primary and secondary DMVOs, achieving high rates of successful recanalization and FPE.

Safety and efficacy of dynamic catheter-directed cerebral digital subtraction angiography for diagnosis of bowhunter syndrome spectrum disorders: A systematic review of the literature.

INTRODUCTION: Dynamic catheter-directed cerebral digital subtraction angiography (dcDSA) is the gold standard for diagnosing dynamic vascular occlusion syndromes such as bowhunter syndrome (BHS). Nonetheless, concerns about its safety exist and no standardized protocols have been published to date. METHODS: We describe our methodology and insights regarding the use of dcDSA in patients with BHS. We also perform a systematic literature review to identify cases of typical and atypical presentations of BHS wherein dcDSA was utilized and report on any procedural complications related to dcDSA. RESULTS: Our study included 104 cases wherein dcDSA was used for the diagnosis of BHS. There were 0 reported complications of dcDSA. DcDSA successfully established diagnosis in 102 of these cases. Thirty-eight cases were deemed atypical presentations of BHS. Fourteen patients endorsed symptoms during neck flexion/extension. In eight cases, there was dynamic occlusion of bilateral vertebral arteries during a single maneuver. Three patients had multiple areas of occlusion along a single vertebral artery (VA). An anomalous entry of the VA above the C6 transverse foramen was observed in four patients. One patient had VA occlusion with neutral head position and recanalization upon contralateral lateral head tilt. CONCLUSION: Our study highlights the safety and diagnostic benefits of dcDSA in characterizing the broad spectrum of BHS pathology encountered in clinical practice. This technique offers a powerful means to evaluate changes in cerebral blood flow and cervical arterial morphology in real time, overcoming the constraints of static imaging methods. Our findings pave the way for further studies on dcDSA to enhance cross-sectional imaging methods for the characterization of BHS and other dynamic vascular occlusion syndromes.

A rare case of solitary, isolated dural metastasis from hepatocellular carcinoma mimicking a meningioma.

Background: Distinguishing an isolated metastatic dural tumor from a meningioma on imaging is challenging and may lead to a delay in treatment. Here, we present the first known case of isolated, solitary dural metastasis from hepatocellular carcinoma (HCC) mimicking a meningioma. Case Description: A 64-year-old male with a history of liver cirrhosis presented with a 5.8 cm enhancing left parafalcine hemorrhagic dural-based mass extending across the midline. Cerebral angiography revealed a distal left anterior pseudoaneurysm, and tumor contrast blush with feeders from the left ophthalmic and right middle meningeal artery. The pseudoaneurysm was successfully embolized to stop the bleeding, followed by an uneventful bi-coronal frontal craniotomy for falcine tumor resection to relieve brain compression. Histopathological analysis of the dural-based tumor showed poorly differentiated carcinoma with positive albumin in situ hybridization and cytokeratin tumor markers, consistent with dural metastases from HCC. Conclusion: When encountering a solitary, highly vascular mass bearing resemblance to a meningioma, it may be prudent to consider the possibility of a dural-based metastatic carcinoma.

Enhancement of wall-plug efficiency in vertical InGaN/GaN LEDs by improved current spreading.

We present the enhancement of wall-plug efficiency in vertical InGaN/GaN light-emitting diodes (V-LEDs) by improved current spreading with a novel Al2O3 current blocking layer (CBL). The Al2O3 CBL deposited by electron-beam evaporation shows high transmittance and good corrosion resistance to acidic solutions. V-LEDs with an Al2O3 CBL show similar light output power but lower forward voltage as compared to those with a SiO2 CBL deposited by plasma-enhanced chemical vapor deposition. As a result, the wall-plug efficiency of V-LEDs with an Al2O3 CBL at 500 mA was improved by 5% as compared to those with a SiO2 CBL, and by 19% as compared to those without a CBL.

Facile fabrication of free-standing light emitting diode by combination of wet chemical etchings.

Free-standing GaN light-emitting diode (LED) structure with high crystalline quality was fabricated by combining electrochemical and photoelectrochemical etching followed by regrowth of LED structure and subsequent mechanical detachment from a substrate. The structural quality and composition of the regrown LED film thus produced was similar to standard LED, but the photoluminescence and electroluminescence intensity of the LED structures on the etched template were several times higher than for standard LED. The performance enhancement was attributable to additional light scattering and improved crystalline quality as a result of the combined etching scheme.