Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to ...systematically review the genetic basis of WSS and report the genetic variants and clinical phenotypes associated with the disease.
PubMed, Science Direct, Scopus, and Web of Science databases were searched from the time of inception until June 2022. Broad search terms were used to capture the literature describing all genetic variants associated with WSS. The search keywords used are "Woodhouse Sakati" along with the term "mutation" OR "gene" OR "variant" OR "polymorphism".
Twenty-five eligible studies were included in this study. One hundred and eighty-five patients in 97 families from 12 different countries were diagnosed with WSS. In patients from the Greater Middle East (GME) region, consanguineous marriages were common (67%). Thirteen different DCAF17 variants were associated with WSS development (including 8 identified in the GME region). The most frequent variant was a frameshift deletion variant (c.436delC, p.Ala147Hisfs*9) unique to Arabs that was reported in 11 cases from Tunisia, Kuwait, Qatar, Bahrain, and Saudi Arabia. There were no clear genotype-phenotype correlations for the different variants.
This systematic review highlights the molecular basis and clinical manifestations of WSS globally, including the GME region, where the disease is prevalent due to consanguinity. Additional studies are now needed to understand the genotype-phenotype correlation for different DCAF17 variants and their impact on the phenotypic heterogeneity observed in WSS patients.
Green method have been used for fabrication of Graphene oxide/ Ginger extractive based lamellar membranes. Such membranes showed exellence selectvity of dye molecules (˃99%) in both aqeous and ...organic medium with extraordinary stability.
Display omitted
•Graphene oxide / Ginger extractive (GO/GE) based lamellar membranes were prepared using green route.•GO/GE membranes exhibited ultrafast permeability for DI water (permeance ∼ 420 ± 10 Lm-2h-1bar−1).•Such membranes showed an excellent selectivity for several organic dyes up to ∼ 100% for methyl blue.•As-prepared laminates were used for organic separation and exhibits excellent rejection toward rhodamine B up to ˃98%•Those laminates are highly stable under aqueous environment up to ∼ 70 days.
Graphene oxide (GO) has attracted an enormous attention for membrane-based technology in wastewater treatment due to its supreme properties such as two-dimensional (2D) structure, good chemical and mechanical stabilities, and high antifouling. However, due to presence of several functional groups on its basal plane and edge, which hinder its applications in wastewater treatment. Herein, we prepared GO-based lamellar membranes from GO and ginger plant extractive (GE) with various thicknesses (∼280 ± 20 nm, ∼500 ± 30 nm, ∼780 ± 30 nm and ∼ 1130 ± 30 nm) by using vacuum filtration method. The GO/GE lamellar membrane (∼280 ± 10 nm) showed an excellent separation efficiency for various organic dyes with ultrafast permeability i.e. rhodamine B (RB, Rejection 99 ± 1% and permeance 320 ± 10 Lm-2h-1bar−1) and methyl blue (MB, Rejection 99 ± 1% and permeance 210 ± 10 Lm-2h-1bar−1). Further, the GO/GE lamellar membrane also shows high water permeance ∼ 420 ± 10 Lm-2h-1bar−1. In addition, these membranes also used for organic separation and results show good separation efficiency of dye molecules in organic solvent (methanol) and exhibited high rejection (˃98%) for both RB and MB dye. This high separation efficiency against several dye molecules with good permeance and stability enlighten the great potential of our GO/GE lamellar membranes in water purification, desalination and other nanofiltration applications.
Olive leaves have been used traditionally to improve the immunity against several infections. Current study aimed to examine the effect of fortified feed with olive leaves extract on haematological ...and biochemical parameters of
. Total 400 healthy fish were divided randomly into four groups and were cultured for two months in glass tanks of 250 L water capacity in triplicate. Fortified feed was prepared with various extract, 1%, 1.5% and 2% concentration in diet, while, control-group diet was without extraction. Results showed that all the haematological parameters including WBC, RBC, Hb, PCV and plasma protein were significantly increased while the biochemical parameters such as globulin albumen ratio increased in fish which fed on 1% of extract, but the level of cholesterol and triglycerides was decreasing by increasing the concentration of extract. It was concluded that olive leaves extract can be used to enhance the immunity, growth and health of fish.
The article analyzes the role of driving m-commerce with social networking and therefore provides insight into how the application of mobile apps influences customers’ perceptions on purchasing ...products online and on the mode of payment. The consumers are engaged in social interactions through the internet by the new opportunities provided by social media. These interactions provide and generate certain values for both businesses and consumers. An upsurge in the application of social media on mobile phones by users is evident, giving optimism and the ability to view the role of the integration of m-commerce into social media. Certain criteria like mobile app compatibility, trust, perceived value of mobile phone apps for online shopping, and online payment are examined from the point of view of consumers who purchase products, save purchase time, and provide easy use and security through social networking sites and m-commerce. Adoption of a digital mode of payment is affected by the education level of the consumers as, if they are internet savvy, they will be more inclined to use the digital payment mode. The article not only discusses the role of education in the better understanding of consumers toward the application of online modes of transaction through mobile phones, but also indicates that there are security issues, although these have been resolved to some extent by technological advances. Yet, there is need for the retailers as well as the consumers to achieve further technological progress.
The next-generation passive optical networks (NG-PONs) (i.e., 50G-PON and Time-division-multiplexing/Wavelength-division-multiplexing, TWDM-PON) offer very high bandwidth with improved quality of ...service. In these PONs, the role of efficient Dynamic bandwidth allocation (DBA) becomes even more important in reducing the upstream delays, bandwidth waste and reducing the upstream delays and delay variance. These qualities of service metrics lead to improved Quality of Experience (QoE) for the end-users in addition to increased revenue for the service providers. This study introduces the game theory concept in the bandwidth distribution process in PON. Specifically, the Bayesian auction game theory (BAGT) process is used in the DBA process to address the unfair and inefficient distribution of upstream bandwidth to the optical network units (ONUs) in XG symmetrical PON(XGs-PON). The proposed BAGT scheme allocates the excess bandwidth to the entire ONUs in proportion to their demands reported via the bidding process. To validate the performance of the BAGT scheme, we also compare it with other existing DBA schemes namely; proportional allocation schemes (PAS), improved bandwidth utilization (IBU), and optimized round-robin (ORR) methods. The simulation results show that the proposed scheme results in higher system throughput and lower upstream delays than the other schemes. BAGT DBA also improves the bandwidth utilization by up to 38% to 50% compared to IBU, ORR, and PAS schemes and exhibits the minimum frame loss ratio.
This study proposes a novel framework for disease prediction intended to aid healthcare providers in making early treatment decisions. In order to efficiently identify early disease indicators and ...provide prompt suggestions for treatment interventions, the framework incorporates machine learning algorithms, clinical data analysis, and predictive modeling techniques (Smith, Johnson, & Davis, 2023). For the purpose of creating the framework, a comprehensive dataset made up of clinical records, demographic data, and test results from a large patient cohort was gathered. The dataset was analyzed using a variety of machine learning methods, and predictive models for various diseases were created. As evaluation criteria, accuracy, precision, recall, and F1-score were used to gauge how well these models performed. The experimental findings show that the suggested framework has a high degree of disease prediction accuracy. Additionally, by recommending early treatment selections. The approach offers the potential to improve patient outcomes and lower healthcare expenditures based on anticipated illness outcomes. The study benefits healthcare professionals, policymakers, and academics looking to use data-driven strategies for better disease management and patient care by providing an effective method for disease prediction and early treatment decisions.
The contribution of cis-regulatory mutations to human disease remains poorly understood. Whole-genome sequencing can identify all noncoding variants, yet the discrimination of causal regulatory ...mutations represents a formidable challenge. We used epigenomic annotation in human embryonic stem cell (hESC)-derived pancreatic progenitor cells to guide the interpretation of whole-genome sequences from individuals with isolated pancreatic agenesis. This analysis uncovered six different recessive mutations in a previously uncharacterized ~400-bp sequence located 25 kb downstream of PTF1A (encoding pancreas-specific transcription factor 1a) in ten families with pancreatic agenesis. We show that this region acts as a developmental enhancer of PTF1A and that the mutations abolish enhancer activity. These mutations are the most common cause of isolated pancreatic agenesis. Integrating genome sequencing and epigenomic annotation in a disease-relevant cell type can thus uncover new noncoding elements underlying human development and disease.
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Graphene oxide (GO) has become the most attractive material for membrane technology owing to its potential application as a nanofiller in water treatment, purification, and desalination. In this ...study, we incorporated mica as a cross-linking reagent to increase the interlayer spacing and stability of GO sheets and fabricated a mica/GO (MGO) membrane for the first time. The MGO membrane (260 ± 10 nm) exhibits 100% rejection for biomolecules such as tannic acid (TA) and bovine serum albumin (BSA) and >99% rejection for multiple probe molecules, such as methylene blue, methyl orange, congo red, and rhodamine B. The high rejection of membranes can be attributed to the surface interaction of mica with GO nanosheets through covalent interaction, which enhances the stability and separation efficiency of the membranes for probe ions and molecules. This ultrathin MGO membrane also exhibits much better water permeability at 870 ± 5 L m
−2
h
−1
bar
−1
, which is 10-100 times greater than that reported for pure GO and GO-based composite membranes. Additionally, the membrane shows high rejection for salt ions (70%). Furthermore, the stability of the MGO membranes was evaluated under various conditions, and the membranes demonstrated remarkable stability for up to 60 days in a neutral environment.
Mica-modified graphene oxide membranes exhibit high water permeability with 100% rejection for tannic acid and bovine serum albumin.
ABSTRACTThis study involved the exploration of hydro-distilled essential oil (EsO) from the aerial parts of Cordia dichotoma fruits, stems, seeds and leaves via gas chromatography‒mass spectrometry. ...Approximately 33 volatile components were detected throughout the study. Almost 27 and 23 compounds (comprising 64.83% and 31.55%, respectively, of the total components) were detected in the fruits and stems, whereas 25 compounds (57.12% of the total components) were detected in the seeds, and 25 compounds (52.48% of the total components) were found in the leaves. The main components of the fruit oil were Nonanal (5.77%), Oleic acid (4.30%), β-Damascenone (4.12%), 3, 4-Dehydro-β-ionone (4.06%), Methyl jasmonate (3.32%), Sabinene (3.31%), Phytol (3.22%) and Vitispirane (3.11%). From stem oil, the major components were Nonanal (6.52%), Nonadecane (3.22%) and 2, 3-Octanedione (2.16%). Whereas, the major components of the seed oils were Nonanal (12.14%), Oleic acid (5.13%), Dihydroactindiolide (3.35%), 2-Methoxy-4-vinylphenol (3.18%), Dodecanoic acid (3.16%) and Methyl jasmonate (3.11%). Similarly, the major components of the leaf oils were 2, 4-di-t-Butylphenol (10.25%), 3-Methylnonane (4.73%), 2-Undecanol (4.64%), 3, 4-Dehydro-β-ionone (3.52%) and Nonanal (3.16%). These EsO were used for antibacterial activity against two bacteria i.e. E. coli (G-ve) and the S. aureus (G+ve) by disc diffusion method to determine the MIC (minimum inhibitory concentration) and MBC (maximum bactericidal concentration). However, among the four parts of C. dichotoma, fruit and seed EsO were highly effective against E. coli (MIC and MBC were 125 μg/mL, 1000 μg/mL respectively) compared to S. aureus (MICs of 250 and 500 μg/mL with an MBC of 1000 μg/mL)
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
PDF
