10/11/2024


The gene encoding hepatocyte nuclear factor 1β (HNF1B), a transcription factor involved in the development of the kidney and other organs, is located on chromosome 17q12. Heterozygous deletions of chromosome 17q12, which involve 15 genes including HNF1B, are known as 17q12 deletion syndrome and are a common cause of congenital anomalies of the kidneys and urinary tract (CAKUT) and may also present as a multisystem disorder. Autosomal recessive polycystic kidney disease (ARPKD), on the other hand, is a severe form of polycystic kidney disease caused by mutations in PKHD1 (polycystic kidney and hepatic disease 1). It is important to differentiate between these two diseases because they differ significantly in inheritance patterns, renal prognosis, and extrarenal manifestations. Here we report a case of 17q12 deletion syndrome that clinically mimicked ARPKD in which genetic testing was essential for appropriate genetic counseling and monitoring of possible extrarenal manifestations. The patient presented antenatally with markedly enlarged kidneys and showed bilaterally hyperechoic kidneys with poor corticomedullary differentiation and multiple cysts on ultrasonography. There was no family history of renal disease. ARPKD was clinically suspected and genetic testing was performed to confirm diagnosis, resulting in an unexpected finding of 17q12 deletion including HNF1B. While some research has been done to identify patients that should be tested for HNF1B anomalies, this case illustrates the difficulty of recognizing HNF1B-related disease and the importance of genetic testing in appropriately managing CAKUT cases.Human neuroimaging has had a major impact on the biological understanding of epilepsy and the relationship between pathophysiology, seizure management, and outcomes. This review highlights notable recent advancements in hardware, sequences, methods, analyses, and applications of human neuroimaging techniques utilized to assess epilepsy. These structural, functional, and metabolic assessments include magnetic resonance imaging (MRI), positron emission tomography (PET), and magnetoencephalography (MEG). Advancements that highlight non-invasive neuroimaging techniques used to study the whole brain are emphasized due to the advantages these provide in clinical and research applications. Thus, topics range across presurgical evaluations, understanding of epilepsy as a network disorder, and the interactions between epilepsy and comorbidities. New techniques and approaches are discussed which are expected to emerge into the mainstream within the next decade and impact our understanding of epilepsies. Further, an increasing breadth of investigations includes the interplay between epilepsy, mental health comorbidities, and aberrant brain networks. In the final section of this review, we focus on neuroimaging studies that assess bidirectional relationships between mental health comorbidities and epilepsy as a model for better understanding of the commonalities between both conditions.Due to various environmental degradation and natural resource depletion around the world, researchers' and policymakers' attention has turned to what causes environmental degradation. The pursuit of a healthy environment has become a global challenge, a problem that affects more than one nation. Climate change is causing severe weather conditions in every world, disrupting economies and affecting the lives of many people. Hence, the study analyzes how trade and economic growth impact environmental degradation in Belgium, the USA, and Canada using panel data from 1995 to 2016. The study utilized the autoregressive distributed lag approach to provide new evidence and policy implications. The outcome confirmed the presence of cointegration among the selected variables. However, it was observed that economic growth decreases environmental degradation in the long run while trade openness shows a positively insignificant relationship with carbon emission. Nevertheless, a positive short-run relationship was observed between economic growth and carbon emissions whereas a negatively insignificant relationship was observed for trade and carbon emission. The findings prompted policy implications that more trading could be done between the countries. When countries trade more, their economies will flourish, ensuring global prosperity and minimizing environmental degradation.Heavy metal pollution represents a health threat. Many fungal species are capable of tolerating various heavy metals, especially if they are isolated from a contaminated watercourse. One of the mechanisms by which fungi can sequester certain heavy metals is synthesizing stress proteins. The aim of this study is to investigate the production of metallothioneins in Aspergillus oryzae and Aspergillus clavatus exposed to environmentally relevant concentrations of Cd, Cu, Fe, and Zn at neutral, alkaline, and acidic pH conditions within 10 days. We determined the concentrations of these heavy metals in certain watercourses representing Behira and Giza governorates; also, we identified the most prevalent fungal species. We carried out a statistical correlation between different heavy metals and the isolated fungi. https://www.selleckchem.com/products/Perifosine.html Then, in the laboratory, we exposed two of the most prevalent fungal species to the environmentally detected concentrations of the heavy metals and their doubles. Sodium dodecyl sulfate-polyacrylamide gel electrophoresis demonstrated that in A. oryzae, the metallothionein bands appeared in neutral medium containing Cd and Cu and in alkaline medium containing Cd and Zn, while in A. clavatus, no metallothionein bands appeared at all. In conclusion, metallothionein is a good indicator of pollution with Cd, Cu, and Zn in Aspergillus oryzae, and pH plays a central role in metallothionein production.Recalcitrant dyes found in textile wastewater represent a threat for sustainable textile production due to their resistance to conventional treatments. This study assessed an alternative co-composting system for the treatment of recalcitrant textile dyes where textile industrial sludge, sewage wastewater, or sewage sludge were used as microbial compost inocula. The biodegradation efficiency of bioreactor trials and compost quality of the co-composting system were assessed by visible spectrophotometry and by a phytotoxicity test. The co-composting system (dry weight (dw) basis) consisted of 200 g of restaurant organic residues + 200 g sewage sludge (or 100 mL sewage wastewater, or 200 g textile sludge) + 100 mL of a 10% dye solution (Reactive Red 195, or Synolon Brown, or Orange Remazol, or Yellow Synozol, or Reactive Orange 122, or Reactive Black 5). After 60 days of composting, all dyes were biodegraded according to spectrophotometric data, with efficiency varying from 97.2 to 99.9%. Inoculum efficiency ranking was textile sludge > sewage sludge > sewage wastewater. Regarding compost quality, a phytotoxicity study with lettuce showed no toxicity effect. Thus, co-composting can be a low-cost and efficient method for recalcitrant textile dye biodegradation and for managing textile sludge in terms of waste recycling, contributing to environmental sustainability.The fiscal decentralization system under China's political centralization affects local economic and environmental policies, and thus has an important impact on environmental quality. This paper uses the panel data of 285 cities in China from 2003 to 2018 and the spatial Durbin model to empirically analyze the impact of fiscal decentralization on haze pollution and its mechanism. The results show that the increase in fiscal decentralization will significantly aggravate the haze pollution in and around the region, and this conclusion is still valid after a series of robustness tests. Moreover, the impact of fiscal decentralization on haze pollution has significant heterogeneity in the size and region of the city, and the sample period. In addition, mechanism analyses show that fiscal decentralization has aggravated haze pollution by increasing infrastructure construction, reducing environmental regulations, and intensifying market segmentation. Further analyses reveal that, on the one hand, local governments have the ability to control haze pollution in their own regions according to their own wishes and interests, but on the other hand, adjustments to environmental policies in surrounding areas will significantly inhibit the control of environmental policies in the region, thereby making local governments haze pollution has not been effectively controlled. This is essentially a "Race to bottom" phenomenon among local governments in environmental policies.Occupational wood dust exposure may be associated with various health effects, especially in wood industry. These effects may be due to inducing oxidative stress which is related to inflammations. Biochemical assessment of antioxidant enzyme activities illustrated role of oxidative stress (OS) on its depletion. Super oxide dismutase, glutathione peroxidase (GPx) and catalase (CAT) were analyzed in 50 exposed workers and 50 control subjects. Also, macrophage inflammatory protein-2 was assessed among these workers as it was produced upon dust exposure. Microsomal epoxide hydrolase (EPHX1) enzyme shared in the protective mechanism against wood dust oxidative stress. It plays a dual role in the metabolism of environmental pollutants, detoxification, and bioactivation. Gene polymorphisms of EPHX1 may be associated with variations in enzyme activity. Polymorphisms in exons 3 and 4 have resulted in either decreased (slow conjugating allele) or increased (fast conjugating allele) activity in vitro. We aimed to evaluate the associations between EPHX1 polymorphisms and change in antioxidant status (SOD, CAT, and GPx) among wood dust exposed workers. EPHX1 genotyping in exon 3 and exon 4 polymorphisms was carried out by PCR-RFLP. Our result shows a significant reduction in enzymatic antioxidants (SOD, CAT, and GPx) levels with significant rise in MIP-2 levels in worker group. Also, there are significant variations in SOD, CAT, and GPx levels as well as in MIP-2 in different genotypes of EPHX polymorphisms in exon 3 or 4 (specially in Hist-Hist genotypes in both exons). We can conclude an alteration in antioxidant status in both slow and fast allele of EPHX gene polymorphisms with release of MIP-2 protein in wood workers.This study aims to characterize the microbial community and its relationship with heavy metal pollution in the beaches of Sugözü, an important nesting site for the green turtle. Heavy metal concentrations of sand samples from subregions of Sugözü were determined using ICP-MS. The microbial community was analyzed using the Biolog® EcoPlate. The relationship between microbial catalytic activity and heavy metal levels were analyzed using canonical correspondence analysis. Levels of 27Al, 57Fe, 55Mn, and 52Cr were quite high (4332.34, 13,764.77, 590.98, and 48.21 mg/kg, respectively). The microbial community in subregions with high levels of metals was found to use carboxylic acid as a carbon source. Bioactivity, substrate utilization, diversity, and evenness values indicated negative correlations concentrations of 27Al, 56Fe, and 52Cr (-0.820, -0.508, and -0.560, respectively). It was also found that microbial diversity decreased in the subregions where heavy metal concentration increased. Embryonic deaths were found highest at early stage (0.