An Unusual Cause of Peroneal Neuropathy

We discuss the case of a teenage girl who presented with neurologic symptoms suggestive of a peripheral neuropathy, before the development of a central arteriovenous fistula. Electromyography and nerve conduction studies indicated peroneal motor neuropathy, but her comprehensive genetic study results were negative for common Charcot-Marie-Tooth mutations. After 2 years of stable symptoms, she presented with unilateral throbbing headache and tinnitus. Magnetic resonance angiography revealed a carotid cavernous fistula, which was confirmed with conventional angiography. A successful coil embolization of the fistula was performed. Whole exome sequencing demonstrated a de novo heterozygous c.3158G>A (p.G1056D) mutation in the COL31A gene, consistent with Ehlers-Danlos type IV. To our knowledge, this is the first reported case of isolated peroneal motor neuropathy in a patient with Ehlers-Danlos type IV. This case highlights the utility of whole exome sequencing in the diagnosis of patients with neurologic symptoms that do not fit a clear phenotype.
Source: Seminars in Pediatric Neurology - Category: Neurology Authors: Source Type: research

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In conclusion, proteomic analysis was able to reveal differences in protein expression between migraine sufferers and non-headache women; as in other neurological diseases characterized by neuroinflammation, the serum proteome of migraine women presents an abundance of proteins indicative of cellular damage, oxidative stress and inflammation. This relevant inflammatory status, if confirmed in larger series, could represent a target for menstrual-related migraine treatment.Graphical abstract
Source: Journal of Pharmaceutical and Biomedical Analysis - Category: Drugs & Pharmacology Source Type: research
Authors: Nguyen P, Seto A Abstract Introduction: Angiography is routinely used to perform percutaneous coronary intervention (PCI). However, angiography has many limitations that prevent accurate assessment of coronary lesions. The development and evolution of intravascular imaging has offset the limitations of angiography. Overwhelming evidence supports intravascular imaging guidance to optimize PCI results and studies have shown that it is associated with better outcomes. Intravascular ultrasound (IVUS) and optical coherence tomography (OCT) are the most commonly used modalities and both have far greater spatial ...
Source: Expert Review of Cardiovascular Therapy - Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research
INTRODUCTION Admission computed tomography (CT) is a widely used diagnostic tool for patients with pelvic fractures. In this pilot study, we hypothesized that pelvic hematoma volumes derived using a rapid automated deep learning-based quantitative visualization and measurement algorithm predict interventions and outcomes including (a) need for angioembolization (AE), pelvic packing (PP), or massive transfusion (MT), and (b) in-hospital mortality. METHODS We performed a single-institution retrospective analysis of 253 patients with bleeding pelvic fractures who underwent admission abdominopelvic trauma CT between 2008 ...
Source: The Journal of Trauma: Injury, Infection, and Critical Care - Category: Orthopaedics Tags: ORIGINAL ARTICLES Source Type: research
Conclusion: Capillary nonperfusion area in the posterior retina increases with increasing DR severity as measured by swept-source OCTA. Quantitative analysis of retinal nonperfusion on wide-field OCTA may be useful for early detection and monitoring of disease in patients with diabetes and DR.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Conclusion: Impairment of the CC, assessed by flow-deficit percentages, was most prominent closest to CNV boundaries. The lesion-centered zonal analysis technique enabled quantitative CC measurements relative to focal lesions. Understanding how processing steps, imaging/processing parameters, and artifacts can affect quantitative CC measurements is important for longitudinal, OCTA-based studies of disease progression, and treatment response.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Conclusion: Better visualization of the extent of neovascularization is obtained using SS-OCT or SD-OCT compared with ICGA, which may be influenced by choroidal permeability and dye leakage. Neovascularization area on OCTA may become an objective parameter in the follow-up of age-related macular degeneration patients, along with traditional imaging techniques.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Conclusion: Autologous RPE–choroid patch achieved long-lasting BCVA improvement and central fixation, in eyes with choroidal neovascular membrane and intact external limiting membrane. Atrophic maculopathies only obtained temporary visual benefit.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Conclusion: There was an excellent agreement in CNV area measurements for both swept-source optical coherence tomography angiography devices in automatic and manual segmentations. However, the Topcon equivalent Zeiss segmentation was not comparable with any of the preset segmentations of Topcon and Zeiss devices. There was a poor agreement in CNV VD between different image size and different devices. For these reasons, it seems that, for accurate longitudinal analysis of VD, it is better to use the same device for each individual, even if both devices can be used interchangeably for CNV area measurements using automatic ...
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Purpose: To determine the density of the choroidal vasculature by high-quality structure en face optical coherence tomography (OCT) scanned at the same time as OCT angiography in eyes with central serous chorioretinopathy (CSC). Methods: Thirty-five eyes of 30 patients with CSC (20 men and 10 women; average age, 48.4 years) were studied. Volume scans (12 × 12 mm-square) were obtained at the same time as OCT angiographic scans (Plex Elite 9000; Swept-Source OCT, Zeiss). High-quality structure en face images were flattened at Bruch membrane and binarized to identify and quantify the choroidal vascular density by t...
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
Conclusion: Inner retinal dimples are identified with en face OCT as early as the first month after internal limiting membrane peeling for idiopathic full-thickness macular holes and progressively increase in number and proportionate area in the subsequent 3 to 6 months after surgery. This may be the result of progressive deturgescence of the nerve fiber layer in the postoperative period.
Source: RETINA - Category: Opthalmology Tags: Original Study Source Type: research
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