XYLT1 Mutations in Desbuquois Dysplasia Type 2

Desbuquois dysplasia (DBQD) is a severe condition characterized by short stature, joint laxity, and advanced carpal ossification. Based on the presence of additional hand anomalies, we have previously distinguished DBQD type 1 and identified CANT1 (calcium activated nucleotidase 1) mutations as responsible for DBQD type 1. We report here the identification of five distinct homozygous xylosyltransferase 1 (XYLT1) mutations in seven DBQD type 2 subjects from six consanguineous families. Among the five mutations, four were expected to result in loss of function and a drastic reduction of XYLT1 cDNA level was demonstrated in two cultured individual fibroblasts. Because xylosyltransferase 1 (XT-I) catalyzes the very first step in proteoglycan (PG) biosynthesis, we further demonstrated in the two individual fibroblasts a significant reduction of cellular PG content. Our findings of XYLT1 mutations in DBQD type 2 further support a common physiological basis involving PG synthesis in the multiple dislocation group of disorders. This observation sheds light on the key role of the XT-I during the ossification process.     

Alkaline phosphatase interference in immuno-enzymatic assays

BackgroundAlkaline phosphatase (ALP) enzymes are widely used as signal amplifiers in immunoenzymatic methods. Conditions that cause ALP elevations, such as bone or liver diseases, can cause interference in immunoenzymatic methods. We aimed to examine ALP''s effect on immunoenzymatic assay by adding isolated pure ALP to the prepared serum pool.MethodsWe prepared a serum pool and divided it into 4 groups. By adding isolated pure ALP at different concentrations to each group, we obtained sample groups containing ALP enzyme at concentrations of 85 U/L, 340 U/L, 870 U/L, and 1570 U/L. 20-repetition of bhCG, ferritin, FT4, TSH, troponin I, and Vit B12 tests were performed in each group. The coefficient of variation, bias, and total error was calculated. All groups were compared by using the Friedman test for paired samples.ResultsAfter ALP addition, the calculated total error values of FT4, bhCG and troponin I tests were above the acceptable error limits. There were statistically significant differences in bhCG, FT4, troponin I, and Vit B12 tests compared to the baseline ALP level (P<0.0125).ConclusionsIsolated ALP elevations can be a source of interference for immunoenzymatic methods.     

The carbon implications of large‐scale afforestation of agriculturally marginal land with short‐rotation willow in Saskatchewan

Afforestation with short‐rotation coppice (SRC) willow plantations for the purpose of producing bioenergy feedstock was contemplated as one potential climate change mitigation option. The objectives of this study were to assess the magnitude of this mitigation potential by addressing: (i) the land area potentially available for SRC systems in the province of Saskatchewan, Canada; (ii) the potential biomass yields of SRC plantations; and (iii) the carbon implications from such a large‐scale afforestation program. Digital soils and land‐use data were used to identify, map, and group into clusters of similar polygons 2.12 million hectares (Mha) of agriculturally marginal land that was potentially suitable for willow in the Boreal Plains and Prairies ecozones in Saskatchewan. The Physiological Principles in Predicting Growth (3PG) model was calibrated with data from SRC experiments in Saskatchewan, to quantify potential willow biomass yields, and the Carbon Budget Model of the Canadian Forest Sector (CBM‐CFS3), was used to simulate stand and landscape‐level C fluxes and stocks. Short‐rotation willow plantations managed in 3 year rotations for seven consecutive harvests (21 years) after coppicing at Year 1 produced about 12 Mg ha^?1 yr^?1 biomass. The more significant contribution to the C cycle was the cumulative harvest. After 44 years, the potential average cumulative harvested biomass C in the Prairies was 244 Mg C ha^?1 (5.5 Mg C ha^?1 yr^?1) about 20% higher than the average for the Boreal Plains, 203 Mg C ha^?1 (4.6 Mg C ha^?1 yr^?1). This analysis did not consider afforestation costs, rate of establishment of willow plantations, and other constraints, such as drought and disease effects on biomass yield. The results must therefore be interpreted as a biophysical mitigation potential with the technical and economic potential being both lower than our estimates. Nevertheless, short‐rotation bioenergy plantations offer one potential mitigation option to reduce the rate of CO₂ accumulation in the earth's atmosphere and further research is needed to operationalise such a mitigation effort.     

Increasing the Bioaccessibility of Antioxidants in Tomato Pomace Using Excipient Emulsions

Plant-based foods contain numerous bioactive constituents (“nutraceuticals”) that have beneficial effects on human health. However, their oral bioavailability is often relatively low, which limits their potential efficacy. The bioavailability of nutraceuticals can be increased through the utilization of excipient foods whose compositions and structures are specifically designed to increase the amount of nutraceuticals absorbed in an active form. In this study, olive oil excipient emulsions were designed to increase the bioaccessibility of lycopene and other natural antioxidants in tomato pomace. These emulsions consisted of 8 wt% olive oil and 1 wt% Tween 20 or Tween 80 and were prepared using a microfluidizer operated under different processing conditions (12,000 or 20,000 psi; 3 or 5 passes). Changes in particle size, charge, and bioaccessibility were assessed when tomato pomace-emulsion mixtures were exposed to simulated gastrointestinal digestion. The mean particle diameter of the particles in the excipient emulsions increased after digestion (416 to 446 nm) compared to the values before digestion (200 to 220 nm). The presence of excipient emulsions significantly increased the bioaccessibility of lycopene in tomato pomace compared to oil-free control samples. For instance, lycopene bioaccessibility was > 82% when the tomato pomace was mixed with excipient emulsions but only 29% when it was mixed with oil-free buffer solutions. The presence of excipient emulsions also increased the total phenolic content of the tomato pomace. For instance, the phenolic content was considerably higher in the presence of excipient emulsions (1489 to 2055 mg GAE /100 g FW) than in their absence (939 mg GAE /100 g FW). However, the excipient emulsions did not increase naringenin bioaccessibility, which was attributed to the fact that it was not strongly hydrophobic. The efficacy of the excipient emulsions was only modestly dependent on emulsifier type and homogenization conditions. In conclusion, excipient emulsions can be designed to enhance the bioaccessibility of strongly hydrophobic nutraceuticals in tomato-based products, which may boost their healthiness.

Graphical abstract

     

Volatile organic compound concentrations and their health risks in various workplace microenvironments

Abstract

Volatile organic compounds (VOCs) are some of the most important pollutants that have adverse effects on human health. In this study, simultaneous indoor and outdoor air samples were collected from four types of microenvironments (restaurants, photocopy centers, dry cleaners, and auto paint shops) in Kocaeli, Turkey in both winter and summer. Twenty-four VOCs were detected using gas chromatography and a flame ionization detector. The aim of the study was to determine the VOC concentrations in various workplaces and investigate associated health risks. Results show that the highest mean total VOC concentrations are in auto paint shops (14,066 µg/m³ in winter, 3441 µg/m³ in summer) followed by dry cleaners, restaurants, and photocopy centers. Total cancer risk was approximately 310 times greater than the acceptable limit in auto paint shops, 44 times greater in restaurants, 42 times greater in dry cleaners, and 17 times greater in photocopy centers. Total hazard quotients were also greater than the acceptable limit in all microenvironments.     

Simultaneous immunofluorescence and histology in pemphigus vulgaris using ex vivo confocal laser scanning microscopy

Ex vivo confocal laser scanning microscopy (ex vivo CLSM) provides rapid, high-resolution imaging and immunofluorescence examinations of the excised tissues. We aimed to evaluate the applicability of ex vivo CLSM in histomorphological and direct immunofluorescence (DIF) examination of pemphigus vulgaris (PV). 20 PV sections were stained with fluorescent-labeled anti-IgG and anti-C3 using various dilutions and incubation periods. Subsequently, the determined ideal staining protocol was applied on 20 additional PV and 20 control sections. Ex vivo CLSM identified intraepidermal blisters and acantholytic cells in 80% and 60% of PV patients, respectively. The sensitivity of ex vivo CLSM in detecting intraepidermal fluorescence was 90% both with IgG and C3. The specificity of staining for IgG and C3 was 70% and 90%, respectively. Histomorphological and immunofluorescence features of PV could be detected within the same ex vivo CSLM session showing a comparable performance to conventional histopathology and DIF microscopy.     

Trace Element Levels and Oxidant/Antioxidant Status in Patients with Alcohol Abuse

Biological Trace Element Research - Alcohol abuse is a well-known cause of imbalance in trace element levels and oxidant/antioxidant status of individuals with long time consumption. However, the...     

Circulating nuclear factor-kappa B mediates cancer-associated inflammation in human breast and colon cancer

BackgroundInflammation is recognized as a hallmark feature of cancer development and progression. The aim of our study was to investigate the significance of serum nuclear factor kappa-B (NF-κB) levels as a circulating marker in the monitoring of inflammation in breast and colon cancer; to show the relationship between NF-κB with inflammatory parameters as tumour necrosis factor-α (TNF-α), soluble TNF-related apoptosis-inducing ligand (sTRAIL), interleukin-6 (IL-6), pentraxin-3 (PTX-3), procalcitonin (PCT), and C-reactive protein (CRP) levels.MethodsSerum NF-κB, TNF-α, sTRAIL, IL-6, PTX-3, PCT, and serum CRP levels were measured using enzyme-linked immunosorbent assay (ELISA) in 40 patients with breast cancer, 40 patients with colon cancer and 30 healthy controls.ResultsThe serum NF-κB, TNF-α, IL-6, PTX-3, PCT, and serum CRP concentration was significantly higher, and the serum sTRAIL concentration was significantly lower in the patients with breast and colon cancer than in healthy controls. NF-κB was positively correlated with CRP and negatively correlated with sTRAIL.ConclusionsThese results suggest that increased NF-κB may decrease the clinical efficacy of sTRAIL in solid tumour cells. There is a relationship between inflammation and carcinogenesis so that the development of cancer occurs with chronic inflammation in breast and colon. The study results have shown that colon and breast cancer patients have increased systemic inflammation, as measured by increased circulating cytokines, and acute-phase proteins, or by abnormalities in circulating cells. NF-κB may combine with other markers of the systemic inflammatory response in prognostic scores in cancer. In addition to surgical resection of the tumour, and conventional radio and chemotherapy for cancer treatment, the use of sTRAIL or other agonists for cancer therapy appeared a new potential therapy.