Fabry disease (FD) is a rare disorder resulting from a genetic mutation characterized by the accumulation of sphingolipids in various cells throughout the human body, leading to progressive and irreversible organ damage, particularly in males. Genetically-determined deficiency or reduced activity of the enzyme (alpha - Galactosidase; α-Gal) leads to the accumulation of sphingolipids in the lysosomes of various cell types, including the heart, kidneys, skin, eyes, central nervous system, and digestive system, triggering damage, leading to the failure of vital organs, and resulting in progressive disability and premature death. FD diagnostics currently depend on costly and time-intensive genetic tests and enzymatic analysis, often leading to delayed or inaccurate diagnoses, which contribute to rapid disease progression.
View Article and Find Full Text PDFA 38-year-old nulliparous woman with severe obesity (BMI 66) and hypertension presented with constipation, fatigue, weakness, and poor appetite that had progressively worsened over the prior two to three weeks. Upon admission, the patient was found to have significant hypercalcemia, leukocytosis, and lactic acidosis. Computed tomography (CT) scan of the chest, abdomen, and pelvis revealed an adnexal mass with extensive lesions throughout her pelvis, abdomen, and chest.
View Article and Find Full Text PDFNeuroendocrine tumors (NETs) are a rare subset of malignancies in the biliary tract that may have an aggressive and initially asymptomatic course. A 93-year-old female presented with four days of abdominal pain with associated nausea, jaundice, and brown-colored urine. A CT scan revealed a soft-tissue lesion measuring 1.
View Article and Find Full Text PDFBackground: It remains unclear whether spinal cord untethering is necessary to reduce the chances of neurologic decline in children with myelomeningocele and complex closed spinal dysraphism who undergo thoracolumbar fusion for scoliosis. We sought to determine the neurologic and functional outcomes of children with spinal dysraphism undergoing spinal fusion for scoliosis with and without prophylactic spinal cord untethering.
Methods: Retrospective, single-center review of patients with spinal dysraphism treated with thoracolumbar fusion over the last 10 years (2009-2019) with or without prophylactic spinal cord untethering.
Introduction: West Nile virus is an asymptomatic infection in most cases, but it can present with a rare complication of deadly neuroinvasive disease.
Case Presentation: A 81-year-old White man presented with altered mental status and fever of unknown origin. After extensive workup, he was diagnosed with West Nile encephalitis based on positive serology, lumbar puncture, and clinical presentation.
The possibilities surrounding positronics, a versatile noninvasive tool employing annihilating positrons to probe atomic-deficient sub-nanometric imperfections in a condensed matter, are analyzed in application to glassy arsenoselenides g-AsSe (0 < x < 65), subjected to dry and wet (in 0.5% PVP water solution) nanomilling. A preliminary analysis was performed within a modified two-state simple trapping model (STM), assuming slight contributions from bound positron-electron (Ps, positronium) states.
View Article and Find Full Text PDFThe impact of high-energy milling on glassy arsenic monoselenide g-AsSe is studied with X-ray diffraction applied to diffuse peak-halos proper to intermediate- and extended-range ordering revealed in first and second sharp diffraction peaks (FSDP and SSDP). A straightforward interpretation of this effect is developed within the modified microcrystalline approach, treating "amorphous" halos as a superposition of the broadened Bragg diffraction reflexes from remnants of some inter-planar correlations, supplemented by the Ehrenfest diffraction reflexes from most prominent inter-molecular and inter-atomic correlations belonging to these quasi-crystalline remnants. Under nanomilling, the cage-like AsSe molecules are merely destroyed in g-AsSe, facilitating a more polymerized chain-like network.
View Article and Find Full Text PDFMultiple neurological complications, including Guillain-Barre syndrome (GBS), have been reported in association with the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak. GBS has well-known associations with viruses such as influenza, human immunodeficiency virus, Zika, severe acute respiratory syndrome, Middle East respiratory syndrome, Epstein-Barr virus, and cytomegalovirus. Till date, there have been around 50 distinct published cases of GBS occurring concurrently or shortly after SARS-CoV-2 infection.
View Article and Find Full Text PDFGermanium selenide glasses of compositions spanning the whole glass-formation range are aged at room temperature for up to 20 years. A prominent enthalpy relaxation process is observed in all glasses, and its structural origin is analyzed by Raman spectroscopy. The structural relaxation is manifested in the Raman spectra as a decrease in the ratio of edge- to corner-sharing GeSe tetrahedral units.
View Article and Find Full Text PDFThe objective of this study is to demonstrate the successful functionalization of the surface of a chalcogenide infrared waveguide with the ultimate goal of developing an infrared micro-sensor device. First, a polyisobutylene coating was selected by testing its physico-chemical compatibility with a Ge-Sb-Se selenide surface. To simulate the chalcogenide platform infrared sensor, the detection of benzene, toluene, and ortho-, meta- and para-xylenes was efficaciously performed using a polyisobutylene layer spin-coated on 1 and 2.
View Article and Find Full Text PDFPrevious reports have shown various neurological manifestations in about 36.4% of patients infected with SARS-Cov-2. However, peripheral neuropathy was only reported once before.
View Article and Find Full Text PDFHigh pressure/high-temperature microreactors based on silicon-Pyrex® microfabrication technologies have attracted increasing interest in various applications providing optical access in high-pressure flow processes. However, they cannot be coupled to infrared spectroscopy due to the limited optical transparency (up to ~2.7 μm in the infrared region) of the Pyrex® glass substrate employed in the microreactor fabrication.
View Article and Find Full Text PDFThe development of postconcussion syndrome after traumatic brain injury can result in a wide range of potentially debilitating symptoms that includes headaches, cognitive dysfunction, and mood disorders. Unfortunately, data on helpful medications are quite limited, particularly on the treatment of persistent headaches attributed to trauma. This retrospective medical record review used data collected from patients with a diagnosis of postconcussion syndrome in Mayo Clinic's Neurology and Physical Medicine and Rehabilitation outpatient clinics to evaluate the response of postconcussive symptoms to amantadine.
View Article and Find Full Text PDFThe chemical and structural homogeneity of selenide glasses produced by mechanical homogenization of the melt in a rocking furnace is investigated by Raman and Energy Dispersive Spectroscopy (EDS). Both techniques demonstrate that the glass is macroscopically homogeneous along the entire length of a 6 cm rod. EDS imaging performed over four orders of magnitude in scale further confirms that the glass is homogeneous down to the sub-micron scale.
View Article and Find Full Text PDFACS Appl Mater Interfaces
January 2019
Flexible, large-area, and low-cost thermal sensing networks with high spatial and temporal resolution are of profound importance in addressing the increasing needs for industrial processing, medical diagnosis, and military defense. Here, a thermoelectric (TE) fiber is fabricated by thermally codrawing a macroscopic preform containing a semiconducting glass core and a polymer cladding to deliver thermal sensor functionalities at fiber-optic length scales, flexibility, and uniformity. The resulting TE fiber sensor operates in a wide temperature range with high thermal detection sensitivity and accuracy, while offering ultraflexibility with the bending curvature radius below 2.
View Article and Find Full Text PDFTo determine whether Parkinson disease (PD) patients with (VH) have different clinical characteristics and gray-matter volume than those with visual misperceptions (VM) or other visual symptoms (OvS). The spectrum of visual complaints in PD is broad and complex. We conducted a retrospective chart review of 525 PD patients to identify the frequency of visual symptoms and the association with clinical and radiological features.
View Article and Find Full Text PDFWe report on the observation of the long wave-infrared (LWIR) emission centered at 7.3 µm of Sm doped chalcogenide fibers. The chemical composition of the selenide glass host matrix (GaGeSbSe) enables the drawing of 500 ppm and 1000 ppm Sm doped fibers.
View Article and Find Full Text PDFGeTe-based materials are emerging as viable alternatives to toxic PbTe-based thermoelectric materials. In order to evaluate the suitability of Al as dopant in thermoelectric GeTe, a systematic study of thermoelectric properties of GeAlTe ( = 0⁻0.08) alloys processed by Spark Plasma Sintering are presented here.
View Article and Find Full Text PDFThe quaternary AgPbSbTe compound (abbreviated as LAST) is a prominent thermoelectric material with good performance. Endotaxially embedded nanoscale Ag-rich precipitates contribute significantly to decreased lattice thermal conductivity (κ) in LAST alloys. In this work, Ag in LAST alloys was completely replaced by the more economically available Cu.
View Article and Find Full Text PDFNon-motor symptoms in Parkinson's disease are an important cause of morbidity and may even precede the onset of the motor features of the disease. Visual abnormalities are among the most frequent non-motor symptoms observed during the early stages of the disease. Some of the visual symptoms of Parkinson's disease can likely be explained by the presence of dopaminergic neurons within the retina, where the progressive loss of dopamine and the accumulation of α-synuclein within the retinal layers leads to visual dysfunction, while some are caused by abnormalities in cortical visual processing.
View Article and Find Full Text PDFRare earth ion doped materials are means to obtain cost-effective infrared light sources, with enough brilliance for applications such as gas sensing. Within a sulfide matrix, the simultaneous luminescence of both Pr and Dy in the GaGeSbS glass is reported. The use of these two rare earths is giving rise to a broad continuous luminescence in the 2.
View Article and Find Full Text PDFIn this Letter, we report for the first time, to the best of our knowledge, on an emission at 8 μm from Tb-doped GaGeSbSe chalcogenide fibers with doping levels at 1000 ppm and 500 ppm. These fibers were drawn following conventional melt-quenching methods and pumped at 2.05 μm using a Tm: YAG laser.
View Article and Find Full Text PDFBackground & Aims: Prognostic tests are critical in the management of patients with cirrhosis and ascites. Biological tests or scores perform poorly in that situation. Mid-infrared fibre evanescent wave spectroscopy (MIR-FEWS) which allows for global serum metabolic profiling may provide more relevant information by measuring a wider range of metabolic parameters in serum.
View Article and Find Full Text PDFChalcogenide semiconducting systems are of growing interest for mid-temperature range (~500 K) thermoelectric applications. In this work, GeTeSe₃ glasses were intentionally crystallized by doping with Cu and Bi. These effectively-crystallized materials of composition (GeTeSe₃)M (M = Cu or Bi; = 5, 10, 15), obtained by vacuum-melting and quenching techniques, were found to have multiple crystalline phases and exhibit increased electrical conductivity due to excess hole concentration.
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