Acid ceramidase (ACDase) deficiency is a spectrum of disorders that includes a rare lysosomal storage disorder called Farber disease (FD) and a rare epileptic disorder called spinal muscular atrophy ...with progressive myoclonic epilepsy (SMA-PME). Both disorders are caused by mutations in the ASAH1 gene that encodes the lysosomal hydrolase that breaks down the bioactive lipid ceramide. To date, there have been fewer than 200 reported cases of FD and SMA-PME in the literature. Typical textbook manifestations of classical FD include the formation of subcutaneous nodules, accumulation of joint contractures, and development of a hoarse voice. In reality, however, the clinical presentation is much broader. Patients may develop severe pathologies leading to death in infancy or may develop attenuated forms of the disorder wherein they are often misdiagnosed or not diagnosed until adulthood. A clinical variability also exists for SMA-PME, in which patients develop progressive muscle weakness and seizures. Currently, there is no known cure for FD or for SMA-PME. The main treatment is symptom management. In rare cases, treatment may include surgery or hematopoietic stem cell transplantation. Research using disease models has provided insights into the pathology as well as the role of ACDase in the development of these conditions. Recent studies have highlighted possible biomarkers for an effective diagnosis of ACDase deficiency. Ongoing work is being conducted to evaluate the use of recombinant human ACDase (rhACDase) for the treatment of FD. Finally, gene therapy strategies for the treatment of ACDase deficiency are actively being pursued. This review highlights the broad clinical definition and outlines key studies that have improved our understanding of inherited ACDase deficiency-related conditions.
The objective of this study was to use diffuse reflectance infrared Fourier transform (DRIFT) molecular spectroscopy to investigate the relationship between carbohydrate (CHO) molecular structure ...spectral profiles (in terms of CHO molecular spectral peak area and height intensities) and CHO chemical profiles, CHO subfractions, energy values, and rumen fermentable organic matter supply in different grains and different types of dried distillers grains with solubles. The various CHO molecular spectral bands included A_Cell (peak area region and baseline ∼1485–1188cm−1), mainly associated with hemicellulosic and cellulosic compounds; A_1240 (peak area centered at ∼1240cm−1 with region and baseline ∼1292–1198cm−1), mainly associated with cellulosic compounds; A_CHO (peak region and baseline ∼1187–950cm−1) associate with total CHO; A_928 (peak area centered at ∼928cm−1 with region and baseline ∼952–910cm−1); and A_860 (peak area centered at ∼860cm−1 with region and baseline ∼880–827cm−1), mainly associated with nonstructural CHO; H_1415 (peak height centered at ∼1415cm−1 with baseline ∼1485–1188cm−1); and H_1370 (peak height at ∼1370cm−1 with a baseline ∼1485–1188cm−1), mainly associated with structural CHO. No significant correlations were found among A_Cell, A_CHO, H_1415, and H_1370 with CHO chemical and nutrient profiles in the bioethanol co-products. However, CHO molecular spectral intensities of A_1240, A_928, and A_860 were strongly correlated with rapidly degradable CHO fraction (CB1), lowly degradable CHO fraction (CB2), and an unavailable CHO fraction (CC) and could be good indicators. In conclusion, the changes in CHO molecular structures during the processing for bioethanol production were highly associated with carbohydrate degradable subfractions in ruminants.
We observe and explain theoretically strain-induced spin-wave routing in the bilateral composite multilayer. By means of Brillouin light scattering and microwave spectroscopy, we study the spin-wave ...transport across three adjacent magnonic stripes, which are strain coupled to a piezoelectric layer. The strain may effectively induce voltage-controlled dipolar spin-wave interactions. We experimentally demonstrate the basic features of the voltage-controlled spin-wave switching. We show that the spin-wave characteristics can be tuned with an electrical field due to piezoelectricity and magnetostriction of the piezolayer and layered composite and mechanical coupling between them. Our experimental observations agree with numerical calculations.
Abstract
As an advanced technique, synchrotron radiation-based microspectroscopy SR-FTIRM has been a rapid, direct, non-destructive and non-invasive bioanalytical method. Globar molecular ...spectroscopic technique -attenuated total reflectance-ATR-FTIR spectroscopy will be used. For this research, feed type CDC Nasser, forage type CDC haymaker, and milling types CDC Arborg and Summit with three consecutive years are studied. There are three treatments for oat samples: Treatment 1, steam pressure processing alone; Treatment 2, adding innovative fibrolytic enzyme; Treatment 3, steam pressure processing plus fibrolytic enzyme. Each treatment combination has three replications. The objectives of this research are to detect the molecular structure spectral features of processed oat endosperm tissues at a molecular and cellular level in relation to chemical profiles, protein and carbohydrate fractions, energy profiles, degradation kinetics, intestinal digestibility, microbial protein production and true nutrient supply of whole oat grains. This research reveals the interactive association between induced molecular structure changes and nutrient properties and true nutrient supply. This research is also to increase economic returns to oat producers and related dairy industries through efficient utilization of feed-type or milling type of oat grains.
Abstract
The objectives of this study were to evaluate the effect of varieties and heat processing methods on molecular structural, physicochemical, and nutritional characterization of feed ...chickpeas; evaluate the effect of heat processing methods, dry heat, wet heat and microwave irradiation processing method on feed chickpeas as an alternative source for protein and energy feed for ruminant livestock. To reveal the molecular structure spectral profile of chickpeas varieties and the molecular structure changes when applied heat processing methods, vibrational molecular spectroscopy was applied. Feed chickpea samples were determined for chemical profile, energy values, carbohydrate fractions. Subsequently, chickpea samples were incubated in the rumen of dairy cows for degradation kinetics analysis of nutrients. The intestinal digestion of feed chickpea samples was determined using three-step in vitro method with pre-incubation at 16h. Later, protein and carbohydrate related molecular spectral features before and after incubation were performed using vibrational ATR-FTIR molecular spectroscopy. The interactive relationship between processing induced molecular spectral profile changes and nutrient metabolism and availability were studied. The available results showed that varieties and heat processing methods significantly impacted molecular structural, physicochemical, and nutritional characterization of feed chickpeas.
Abstract
Canola was created as a low erucic acid and low glucosinolate seed, to produce high quality oil for human consumption and meal for use in livestock feed. China is an important user of ...Canadian canola products (seeds, oil, and meal). The extraction of the oil from the seed produces a co-product called canola meal. This meal is rich in protein and is used as a protein source in animal diets. However, differences in the characteristics of the seeds, or processing methods during oil extraction may affect the quality of this co-product. Plus, the synthesis of tissues and milk is related to the amino acids available to the animal for absorption in the small intestine. This study aimed to determine if there are significant differences in the intestinal digestibility (in vitro) of CP and DM between canola seeds and meals from different companies in Canada and to determine if there are significant differences between them in Canada and China. The three-step procedure was applied on residues from a 12-hour rumen incubation in fistulated dairy cows to estimate the intestinal digestibility of CP and DM. There were significant differences (P < 0.05) for TDDM (Total digestible dry matter) and IDP (intestinal digestibility of protein) of the meals between countries. The samples from China had higher TDDM (83.76% versus 81.53%, P = 0.018), while Canada’s had higher IDP (68.51% versus 65.28%, P = 0.016). No significant differences were observed within countries. Based on the material analyzed during this study, it is safe to affirm that there are no significant differences in the digestibility of DM and CP between Canada and China. It was concluded that the quality of the canola seeds or meals produced in both Canada and China were similar when used in dairy rations.
Key words: canola seeds and bio-processing co-products (meals, pellets), nutritional differences, dairy cows
The Baksan Experiment on Sterile Transitions (BEST) was designed to investigate the deficit of electron neutrinos νe observed in previous gallium-based radiochemical measurements with high-intensity ...neutrino sources, commonly referred to as the "gallium anomaly," which could be interpreted as evidence for oscillations between νe and sterile neutrino (νs) states. A 3.414-MCi 51Cr νe source was placed at the center of two nested Ga volumes and measurements were made of the production of 71Ge through the charged current reaction, 71Ga(νe,e-)71Ge, at two average distances. The measured production rates for the inner and the outer targets, respectively, are 54.9$_{-2.4}^{+2.5}$(stat)±1.4(syst) and 55.6$_{-2.6}^{+2.7}$(stat)±1.4(syst) atoms of 71Ge/d. The ratio (R) of the measured rate of 71Ge production at each distance to the expected rate from the known cross section and experimental efficiencies are Rin=0.79±0.05 and Rout=0.77±0.05. The ratio of the outer to the inner result is 0.97±0.07, which is consistent with unity within uncertainty. The rates at each distance were found to be similar, but 20%-24% lower than expected, thus reaffirming the anomaly. Therefore these results are consistent with νe→νs oscillations with a relatively large Δm2 (> 0.5 eV2) and mixing sin22θ (≈0.4).
Anemia is the predominant cytopenia in myelodysplastic syndromes (MDS) and treatment options are limited. Roxadustat is a hypoxia‐inducible factor prolyl hydroxylase inhibitor approved for the ...treatment of anemia of chronic kidney disease in the UK, EU, China, Japan, South Korea, and Chile. MATTERHORN is a phase 3, randomized, double‐blind, placebo‐controlled study to assess the efficacy and safety of roxadustat in anemia of lower risk‐MDS. Eligible patients had baseline serum erythropoietin ≤ 400 mIU/mL, and a low packed RBC transfusion burden. In this open‐label (OL), dose‐selection, lead‐in phase, enrolled patients were assigned to 1 of 3 roxadustat starting doses (n = 8 each): 1.5, 2.0, and 2.5 mg/kg. The primary efficacy endpoint of the OL phase was the proportion of patients with transfusion independence (TI) for ≥ 8 consecutive weeks in the first 28 treatment weeks. A secondary efficacy endpoint was the proportion of patients with a ≥ 50% reduction in RBC transfusions over an 8‐week period compared with baseline. Adverse events were monitored. Patients were followed for 52 weeks. Of the 24 treated patients, TI was achieved in 9 patients (37.5%) at 28 and 52 weeks; 7 of these patients were receiving 2.5 mg/kg dose when TI was achieved. A ≥ 50% reduction in RBC transfusions was achieved in 54.2% and 58.3% of patients at 28 and 52 weeks, respectively. Oral roxadustat dosed thrice weekly was well tolerated. There were no fatalities or progression to acute myeloid leukemia. Based on these outcomes, 2.5 mg/kg was the chosen starting roxadustat dose for the ongoing double‐blind study phase.
We demonstrate laser-induced nonreciprocity of spin waves in the ferromagnetic-semiconductor structure. Surface spin waves in yttrium iron garnet film grown at the top of n-type gallium arsenide ...substrate were studied by means of Brillouin light-scattering spectroscopy. It is shown that spin-wave dispersion can be modified in a controlled manner by laser radiation. We observe the difference of up to 225 MHz when comparing the frequencies of counterpropagating spin waves. We attribute this frequency shift to the mutual influence of nonreciprocal spin-wave modal profiles and differences in magnetic anisotropies at two film surfaces as the result of laser-induced conductivity variation in GaAs substrate. We propose a simple model based on analytical dipole theory to describe the induced spin-wave nonreciprocity. Our results show the possibility of integration of magnonics and semiconductor electronics on the base of YIG/GaAs structures.
PDF
