Valorisation of rice husks using a TORBED® combustion process

World production of rice exceeds 750 million tonnes per year of which a fifth is removed in the form of rice husk during the milling process. The use of rice husks as a source of sustainable and renewable energy is often hindered by lack of capital and a poor understanding of rice husk combustion characteristics. This results in the selection of poor quality technology which generates significant quantities of harmful crystalline silica waste. Despite previous work in the area, detailed characterisation of the combustion of rice husk ash in a TORBED reactor across a wide temperature range has not yet been attempted and little effort has been directed towards assessing the economic viability of generating quality rice husk ashes. The use of a TORBED reactor enables low residual carbon after combustion without the generation of harmful crystalline material. Rice husk was combusted in a 400 mm reactor at temperatures between 700 and 950 °C. In the subsequent characterisation studies the resulting materials were shown to be fully amorphous high purity silica (> 95%) and were readily digested in a series of alkaline digestion experiments. Complete silica conversion was only possible using uneconomic Na₂O/SiO₂ ratios and further optimisation of the combustion process to generate higher surface area material is necessary to increase the digestion rates further. Provisional economic analysis suggests that sales of the by-product enhance the returns from rice husk based power generation. TORBED reactors enable the combustion of rice husk with considerable operating flexibility and they generate products that could be used to displace resource intensive products and processes thus, added value from the by-products can be obtained by using TORBED reactor technology

Expression of Stem Cell Markers in the Human Fetal Kidney

In the human fetal kidney (HFK) self-renewing stem cells residing in the metanephric mesenchyme (MM)/blastema are induced to form all cell types of the nephron till 34th week of gestation. Definition of useful markers is crucial for the identification of HFK stem cells. Because wilms' tumor, a pediatric renal cancer, initiates from retention of renal stem cells, we hypothesized that surface antigens previously up-regulated in microarrays of both HFK and blastema-enriched stem-like wilms' tumor xenografts (NCAM, ACVRIIB, DLK1/PREF, GPR39, FZD7, FZD2, NTRK2) are likely to be relevant markers. Comprehensive profiling of these putative and of additional stem cell markers (CD34, CD133, c-Kit, CD90, CD105, CD24) in mid-gestation HFK was performed using immunostaining and FACS in conjunction with EpCAM, an epithelial surface marker that is absent from the MM and increases along nephron differentiation and hence can be separated into negative, dim or bright fractions. No marker was specifically localized to the MM. Nevertheless, FZD7 and NTRK2 were preferentially localized to the MM and emerging tubules (<10% of HFK cells) and were mostly present within the EpCAMneg and EpCAMdim fractions, indicating putative stem/progenitor markers. In contrast, single markers such as CD24 and CD133 as well as double-positive CD24+CD133+ cells comprise >50% of HFK cells and predominantly co-express EpCAMbright, indicating they are mostly markers of differentiation. Furthermore, localization of NCAM exclusively in the MM and in its nephron progenitor derivatives but also in stroma and the expression pattern of significantly elevated renal stem/progenitor genes Six2, Wt1, Cited1, and Sall1 in NCAM+EpCAM- and to a lesser extent in NCAM+EpCAM+ fractions confirmed regional identity of cells and assisted us in pinpointing the presence of subpopulations that are putative MM-derived progenitor cells (NCAM+EpCAM+FZD7+), MM stem cells (NCAM+EpCAM-FZD7+) or both (NCAM+FZD7+). These results and concepts provide a framework for developing cell selection strategies for human renal cell-based therapies

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majority of which are accounted for by 3 mutations within mitochondrial complex I subunit-encoding genes in the mtDNA (mtLHON). Here, we resolve the enigma of LHON in the absence of pathogenic mtDNA mutations. We describe biallelic mutations in a nuclear encoded gene, DNAJC30, in 33 unsolved patients from 29 families and establish an autosomal recessive mode of inheritance for LHON (arLHON), which to date has been a prime example of a maternally inherited disorder. Remarkably, all hallmarks of mtLHON were recapitulated, including incomplete penetrance, male predominance, and significant idebenone responsivity. Moreover, by tracking protein turnover in patient-derived cell lines and a DNAJC30-knockout cellular model, we measured reduced turnover of specific complex I N-module subunits and a resultant impairment of complex I function. These results demonstrate that DNAJC30 is a chaperone protein needed for the efficient exchange of complex I subunits exposed to reactive oxygen species and integral to a mitochondrial complex I repair mechanism, thereby providing the first example to our knowledge of a disease resulting from impaired exchange of assembled respiratory chain subunits

A Unique Combination of Male Germ Cell miRNAs Coordinates Gonocyte Differentiation

The last 100 years have seen a concerning decline in male reproductive health associated with decreased sperm production, sperm function and male fertility. Concomitantly, the incidence of defects in reproductive development, such as undescended testes, hypospadias and testicular cancer has increased. Indeed testicular cancer is now recognised as the most common malignancy in young men. Such cancers develop from the pre-invasive lesion Carcinoma in Situ (CIS), a dysfunctional precursor germ cell or gonocyte which has failed to successfully differentiate into a spermatogonium. It is therefore essential to understand the cellular transition from gonocytes to spermatogonia, in order to gain a better understanding of the aetiology of testicular germ cell tumours. MicroRNA (miRNA) are important regulators of gene expression in differentiation and development and thus highly likely to play a role in the differentiation of gonocytes. In this study we have examined the miRNA profiles of highly enriched populations of gonocytes and spermatogonia, using microarray technology. We identified seven differentially expressed miRNAs between gonocytes and spermatogonia (down-regulated: miR-293, 291a-5p, 290-5p and 294*, up-regulated: miR-136, 743a and 463*). Target prediction software identified many potential targets of several differentially expressed miRNA implicated in germ cell development, including members of the PTEN, and Wnt signalling pathways. These targets converge on the key downstream cell cycle regulator Cyclin D1, indicating that a unique combination of male germ cell miRNAs coordinate the differentiation and maintenance of pluripotency in germ cells

SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling

Signal peptide-CUB-EGF domain-containing protein 3 (SCUBE3) is a member of a small family of multifunctional cell surface-anchored glycoproteins functioning as co-receptors for a variety of growth factors. Here we report that bi-allelic inactivating variants in SCUBE3 have pleiotropic consequences on development and cause a previously unrecognized syndromic disorder. Eighteen affected individuals from nine unrelated families showed a consistent phenotype characterized by reduced growth, skeletal features, distinctive craniofacial appearance, and dental anomalies. In vitro functional validation studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, and their dysregulating effect on bone morphogenetic protein (BMP) signaling. We show that SCUBE3 acts as a BMP2/BMP4 co-receptor, recruits the BMP receptor complexes into raft microdomains, and positively modulates signaling possibly by augmenting the specific interactions between BMPs and BMP type I receptors. Scube3(-/-) mice showed craniofacial and dental defects, reduced body size, and defective endochondral bone growth due to impaired BMP-mediated chondrogenesis and osteogenesis, recapitulating the human disorder. Our findings identify a human disease caused by defective function of a member of the SCUBE family, and link SCUBE3 to processes controlling growth, morphogenesis, and bone and teeth development through modulation of BMP signaling.Genetics of disease, diagnosis and treatmen

Meeting Future Energy Needs in the Hindu Kush Himalaya

As mentioned in earlier chapters, the HKH regions form the entirety of some countries, a major part of other countries, and a small percentage of yet others. Because of this, when we speak about meeting the energy needs of the HKH region we need to be clear that we are not necessarily talking about the countries that host the HKH, but the clearly delineated mountainous regions that form the HKH within these countries. It then immediately becomes clear that energy provisioning has to be done in a mountain context characterized by low densities of population, low incomes, dispersed populations, grossly underdeveloped markets, low capabilities, and poor economies of scale. In other words, the energy policies and strategies for the HKH region have to be specific to these mountain contexts

DLG4-related synaptopathy: a new rare brain disorder

PURPOSE: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.METHODS: The clinical and genetic information were collected through GeneMatcher collaboration. All the individuals were investigated by local clinicians and the gene variants were identified by clinical exome/genome sequencing.RESULTS: The clinical picture was predominated by early onset global developmental delay, intellectual disability, autism spectrum disorder, and attention deficit-hyperactivity disorder, all of which point to a brain disorder. Marfanoid habitus, which was previously suggested to be a characteristic feature of DLG4-related phenotypes, was found in only nine individuals and despite some overlapping features, a distinct facial dysmorphism could not be established. Of the 45 different DLG4 variants, 39 were predicted to lead to loss of protein function and the majority occurred de novo (four with unknown origin). The six missense variants identified were suggested to lead to structural or functional changes by protein modeling studies.CONCLUSION: The present study shows that clinical manifestations associated with DLG4 overlap with those found in other neurodevelopmental disorders of synaptic dysfunction; thus, we designate this group of disorders as DLG4-related synaptopathy.Genetics of disease, diagnosis and treatmen

Synthesis of GdVO<SUB>4</SUB> : Bi,Eu red phosphor by combustion process

The doubly doped (Bi3+ and Eu3+) GdVO4 powder is synthesized by the combustion of aqueous solutions containing metal nitrate (GdNO3), ammonium nitrate (NH4NO3), ammonium metavanadate (NH4VO3) and 3-methyl-5-pyrazole-5-one (3MP5O). The powders are mixed thoroughly by mechanical crushing for 1 h. The aqueous solution containing the redox mixtures, when rapidly heated at 400 &#176;C, ignite and undergo a self-propagating, gas-producing, exothermic reaction to yield fine particles of metal vanadate. The powder was calcined at 650 &#176;C for 1 h and washed with 1N HCl and NH4OH (30%) for several times. The formation of crystalline vanadates was confirmed by XRD, FTIR, and SEM techniques. Excitation and emission spectra were also recorded. A strong emission line at 619 nm due to the 5D0 &#8594; 7F2 transition in the red region was observed. The combustion solution route may be proposed as an economical technique for synthesizing red luminescent GdVO4 : Bi,Eu phosphor

Studies of defects in YVO<SUB>4</SUB>:Pb<SUP>2+</SUP>, Eu<SUP>3+</SUP> red phosphor material

Doubly doped YVO4:Pb2+, Eu3+ red phosphor materials with fixed Eu3+ concentration (5 mol%) and varying Pb2+ concentration were prepared via a self-propagating (combustion) synthesis. This consisted of bringing a saturated aqueous solution of the desired metal salts and a suitable organic fuel to the boil, until the mixture ignited and a self-sustaining and rather fast combustion reaction initiated, resulting in dry, amorphous or usually crystalline fine particles of the desired material. The formation of crystalline vanadates was confirmed by X-ray diffraction. A strong emission line at 619 nm due to the 5D0 &#8594; 7F2 transition in the red region was observed. Defects, created by gamma radiation, were studied by means of photoluminescence, thermally stimulated luminescence (TSL) and electron spin resonance. Photoluminescence studies display considerable reduction in emission intensity which appears to arise due to the formation of defect centres after irradiation. The defect centres formed in the present system are tentatively assigned to F+ centres and step annealing measurements suggest a connection between these centres and the TSL glow peak