Sensory-Motor Neuropathy in Mfn2 T105M Knock-in Mice and Its Reversal by a Novel Piperine-Derived Mitofusin Activator.

Mitochondrial dysfunction is a hallmark of many genetic neurodegenerative diseases, but therapeutic options to reverse mitochondrial dysfunction are limited. While recent studies support the possibility of improving mitochondrial fusion/fission dynamics and motility to correct mitochondrial dysfunction and resulting neurodegeneration in Charcot-Marie-Tooth disease (CMT) and other neuropathies, the clinical utility of reported compounds and relevance of preclinical models are uncertain. Here, we describe motor and sensory neuron dysfunction characteristic of clinical CMT type 2 A in a CRISPR/Casp-engineered Mfn2 Thr105Met (T105M) mutant knock-in mouse.

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.

The neural crest is a unique, transient stem cell population that is critical for craniofacial and ocular development. Understanding the genetics underlying the steps of neural crest development is essential for gaining insight into the pathogenesis of congenital eye diseases. The neural crest cells play an under-appreciated key role in patterning the neural epithelial-derived optic cup.

Functional bone histology of zebrafish reveals two types of endochondral ossification, different types of osteoblast clusters and a new bone type.

The zebrafish is as an important vertebrate animal model system for studying developmental processes, gene functions and signalling pathways. It is also used as a model system for the understanding of human developmental diseases including those related to the skeleton. However, surprisingly little is known about normal zebrafish skeletogenesis and osteogenesis.

Formation of the inner ear during embryonic and larval development of the cichlid fish (Oreochromis mossambicus).

Background: The vertebrate inner ear comprises mineralized elements, namely the otoliths (fishes) or the otoconia (mammals). These elements serve vestibular and auditory functions. The formation of otoconia and otoliths is described as a stepwise process, and in fish, it is generally divided into an aggregation of the otolith primordia from precursor particles and then a growth process that continues throughout life.

Not All Inner Ears are the Same: Otolith Matrix Proteins in the Inner Ear of Sub-Adult Cichlid Fish, Oreochromis Mossambicus, Reveal Insights Into the Biomineralization Process.

The fish ear stones (otoliths) consist mainly of calcium carbonate and have lower amounts of a proteinous matrix. This matrix consists of macromolecules, which directly control the biomineralization process. We analyzed the composition of this proteinous matrix by mass spectrometry in a shotgun approach.

Hyperacute Vasospasm After Aneurysmal Subarachnoid Hemorrhage.

Background: Cerebral vasospasm after aneurysmal subarachnoid hemorrhage typically occurs 3-14 days after aneurysm rupture. We describe a series of patients who developed vasospasm within minutes of aneurysm rupture. This phenomenon, which we term, "hyperacute vasospasm," has been reported in animal models of SAH, but hitherto has been poorly described in humans.

Spatial Expression of Otolith Matrix Protein-1 and Otolin-1 in Normally and Kinetotically Swimming Fish.

Kinetosis (motion sickness) has been repeatedly shown to affect some fish of a given clutch following the transition from 1g to microgravity or from hypergravity to 1g. This susceptibility to kinetosis may be correlated with irregular inner ear otolith growth. Otoliths are mainly composed of calcium carbonate and matrix proteins, which play an important role in the process of otolith mineralization.

Expression of SPARC and the osteopontin-like protein during skeletal development in the cichlid fish Oreochromis mossambicus.

Background: Bones are mainly composed of calcium hydroxyapatite and a proteinous matrix. In this study, we focus on the bone matrix proteins, the fish osteopontin orthologous protein (osteopontin-like protein; OP-L) and SPARC, because the current knowledge regarding their expression is fragmentary or contradictory.

Results: We first provide a comprehensive and detailed description of skeletal development in the cichlid fish Oreochromis mossambicus.

Vertebral and Basilar Arteries: Transcranial Color-Coded Duplex Ultrasonography versus Conventional TCD in Detection of Narrowings.

We prospectively compared the accuracies of conventional transcranial Doppler ultrasound (TCD) and transcranial color-coded duplex sonography (TCCS) in the diagnosis of narrowing of the basilar (BA) and vertebral arteries (VA). Fifty-six consecutive patients (mean age 55.8 years; 34 women) after subarachnoid hemorrhage (n=46), stroke or transient ischemic attack (n=5), and for other reasons (n=5) underwent on the same day TCD, TCCS and the intra-arterial digital subtraction angiography (DSA) - the reference standard.

Current management of symptomatic intracranial stenosis.

Intracranial arterial stenosis (IAS) is the cause of about 10% of all ischemic strokes in the United States, but may account for about 40% of strokes in some populations. After a stroke or transient ischemic attack due to IAS, patients face a 12% annual risk of recurrent stroke on medical therapy, with most strokes occurring in the first year. Warfarin is no better than aspirin in preventing recurrent strokes but poses a higher risk of serious bleeding and death.

Use of a new double-lumen balloon catheter for single-catheter balloon-assisted coil embolization of intracranial aneurysms: technical note.

Background: The prevalence of intracranial aneurysms is approximately 2% with an annual rupture rate of 0.7%.

Objective: We describe our initial feasibility experience using a new double-lumen balloon catheter for single-catheter balloon-assisted coil embolization of wide-neck intracranial aneurysms.

Onyx pulmonary artery embolization after treatment of a low-flow dural arteriovenous fistula: case report.

Background And Importance: Endovascular management of dural arteriovenous fistulas (DAVFs) has become an accepted primary and often definitive therapy. We present the first documented case of Onyx pulmonary embolism after embolization of a low-flow DAVF.

Clinical Presentation: A 63-year-old man presented with subarachnoid hemorrhage secondary to a DAVF.

Intracranial vertebrobasilar artery dissection associated with postpartum angiopathy.

Background. Cervicocephalic arterial dissection (CCAD) is rare in the postpartum period. To our knowledge this is the first reported case of postpartum angiopathy (PPA) presenting with ischemic stroke due to intracranial arterial dissection.

Narrowing of the middle cerebral artery: artificial intelligence methods and comparison of transcranial color coded duplex sonography with conventional TCD.

The goal of the study was to compare performances of transcranial color-coded duplex sonography (TCCS) and transcranial Doppler sonography (TCD) in the diagnosis of the middle cerebral artery (MCA) narrowing in the same population of patients using statistical and nonstatistical intelligent models for data analysis. We prospectively collected data from 179 consecutive routine digital subtraction angiography (DSA) procedures performed in 111 patients (mean age 54.17+/-14.

The role of time-resolved 3D contrast-enhanced MR angiography in the assessment and grading of cerebral arteriovenous malformations.

Purpose: To assess the role of three-dimensional (3D) contrast-enhanced, time-resolved MR angiography (CE TR MRA) in patients with intracranial arteriovenous malformations (AVMs).

Methods: We studied 12 patient with intracranial AVMs on a 3.0T MR imaging system (Magentom TIM Trio, Siemens Medical Solutions, Erlangen, Germany) using 3D CE TR MRA with autocalibrating partially parallel acquisitions and echo sharing schemes, which provided temporal resolution of 0.

Middle cerebral artery vasospasm: transcranial color-coded duplex sonography versus conventional nonimaging transcranial Doppler sonography.

Objective: To prospectively compare accuracies of transcranial color-coded duplex sonography (TCCS) and transcranial Doppler sonography (TCD) in the diagnosis of middle cerebral artery (MCA) vasospasm.

Design: Prospective blinded head-to-head comparison TCD and TCCS methods using digital subtraction angiography (DSA) as the reference standard.

Setting: Department of Radiology in a tertiary university health center in a metropolitan area.

Endovascular and surgical treatment of ruptured cerebral aneurysms in pediatric patients.

Objective: Pediatric cerebral aneurysms are rare. There are very few recent studies that focus on the multidisciplinary treatment of ruptured aneurysms. We reviewed our pediatric endovascular and surgical experience with ruptured cerebral aneurysms.

Neurovascular emergencies in the elderly.

Neurovascular diseases are major causes of disability and death in the elderly; many present as medical emergencies. With the continuing growth of the geriatric population, there has been increasing interest in the impact of aging on the cerebrovascular system. Recent advances in the clinical neurosciences have demonstrated that neurovascular emergencies in the elderly often are amenable to treatment; neuroimaging plays a critical role in diagnosis and neurointerventional techniques are becoming increasingly important therapeutic options.

Learning vector quantization neural networks improve accuracy of transcranial color-coded duplex sonography in detection of middle cerebral artery spasm--preliminary report.

To determine the performance of an artificial neural network in transcranial color-coded duplex sonography (TCCS) diagnosis of middle cerebral artery (MCA) spasm. TCCS was prospectively acquired within 2 h prior to routine cerebral angiography in 100 consecutive patients (54M:46F, median age 50 years). Angiographic MCA vasospasm was classified as mild (<25% of vessel caliber reduction), moderate (25-50%), or severe (>50%).

Obstructive hydrocephalus from venous sinus thrombosis.

Background: Cerebral venous sinus thrombosis (CVST) is a rare form of stroke. Although increased intracranial pressure is a well-described complication of CVST, hydrocephalus has rarely been reported.

Case: We present the case of a 49-year-old woman who presented with one week of headache, vomiting, and progressive neurologic deterioration leading to coma.

Rheolytic thrombectomy for cerebral sinus thrombosis.

Introduction: Cerebral venous and sinus thrombosis (CVST) is an uncommon cause of stroke that is associated with poor outcomes in high-risk patients who present with stupor or coma, rapidly progressive neurologic deficits or progressive neurologic deficits during therapeutic anticoagulation.

Methods And Results: We report the rapid treatment of CVST in six patients at high risk for poor outcomes (death or dependency) using rheolytic thrombectomy combined with locally administered low-dose recombinant tissue plasminogen activator (rt-PA), and review the literature on rheolytic thrombectomy for CVST. All of the procedures were technically successful.

Current management of symptomatic intracranial stenosis: medical versus endovascular therapy.

Approximately 8% to 10% of all ischemic strokes are caused by intracranial arterial stenosis (IAS). After a stroke or transient ischemic attack due to IAS, patients face a 12% annual risk of recurrent stroke on medical therapy, with most strokes occurring in the first year. Warfarin has been shown to be no better than aspirin in preventing recurrent strokes but poses a higher risk of serious bleeding and death.

Admission angiographic cerebral circulation time may predict subsequent angiographic vasospasm after aneurysmal subarachnoid hemorrhage.

Objective: Angiographic cerebral vasospasm occurs in approximately 70% of patients hospitalized after aneurysmal subarachnoid hemorrhage (SAH) and is associated with poor outcome. In this study, we examined whether or not cerebral circulation time (CCT) measured with digital subtraction angiography was associated with angiographic vasospasm.

Methods: Patients who underwent cerebral angiography within 24 hours of SAH were analyzed.

Restenosis after carotid endarterectomy: incidence and endovascular management.

Surgical procedures designed to restore vascular patency for a recurrent stenosis following carotid endarterectomy (CEA) are burdened with technical difficulties as well as with the possibility of serious neurological complications. An endovascular approach employing transluminal percutaneous angioplasty and stenting (PTAS) is a promising solution to these problems. We aimed to evaluate the incidence of carotid artery restenosis following CEA, and to evaluate the safety and efficacy of treating post-CEA restenosis with an endovascular technique (PTAS).