Excellence in Research and Innovation for Humanity

International Science Index

Commenced in January 1999 Frequency: Monthly Edition: International Abstract Count: 48522

Bioengineering and Life Sciences

1501
83885
Insights into Insect Vectors: Liberibacter Interactions
Authors:
Abstract:
The citrus greening disease, also known as Huanglongbing, caused by the phloem-limited bacterium Candidatus Liberibacter asiaticus (CLas) has resulted in tremendous losses and the death of millions of citrus trees worldwide. CLas is transmitted by the Asian citrus psyllid (ACP) Diaphorina citri. The closely-related bacterium Candidatus Liberibacter solanacearum (CLso), which is associated with vegetative disorders in carrots and the zebra chips disease in potatoes, is transmitted by other psyllid species including Bactericera trigonica in carrots and B. ckockerelli in potatoes. Chemical sprays are currently the prevailing method for managing these diseases for limiting psyllid populations; however, they are limited in their effectiveness. A promising approach to prevent the transmission of these pathogens is to interfere with the vector-pathogen interactions, but our understanding of these processes is very limited. CLas induces changes in the nuclear architecture in the midgut of ACP and activates programmed cell death (apoptosis) in this organ. Strikingly, CLso displayed an opposite effect in the gut of B. trigonica, showing limited apoptosis, but widespread necrosis. Electron and fluorescent microscopy further showed that CLas induced the formation of Endoplasmic reticulum (ER) inclusion- and replication-like bodies, in which it increases and multiplies. ER involvement in bacterial replication is hypothesized to be the first stage of an immune response leading to the apoptotic and necrotic responses. ER exploitation and the subsequent events that lead to these cellular and stress responses might activate a cascade of molecular responses ending up with apoptosis and necrosis. Understanding the molecular interactions that underlay the necrotic/apoptotic responses to the bacteria will increase our knowledge of ACP-CLas, and BT-CLso interactions, and will set the foundation for developing novel, and efficient strategies to disturb these interactions and inhibit the transmission.
Digital Article Identifier (DAI):
1500
83836
Effect of Nanoparticles Concentration, pH and Agitation on Bioethanol Production by Saccharomyces cerevisiae BY4743: An Optimization Study
Abstract:
Nanoparticles have received attention of the scientific community due to their biotechnological potentials. They exhibit advantageous size, shape and concentration-dependent catalytic, stabilizing, immunoassays and immobilization properties. This study investigates the impact of metallic oxide nanoparticles (NPs) on ethanol production by Saccharomyces cerevisiae BY4743. Nine different nanoparticles were synthesized using precipitation method and microwave treatment. The nanoparticles synthesized were characterized by Fourier Transform Infra-Red spectroscopy (FTIR), scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Fermentation processes were carried out at varied NPs concentrations (0 – 0.08 wt%). Highest ethanol concentrations were achieved after 24 h using Cobalt NPs (5.07 g/l), Copper NPs (4.86 g/l) and Manganese NPs (4.74 g/l) at 0.01 wt% NPs concentrations, which represent 13%, 8.7% and 5.4% increase respectively over the control (4.47 g/l). The lowest ethanol concentration (0.17 g/l) was obtained when 0.08 wt% of Silver NPs was used. And lower ethanol concentrations were observed at higher NPs concentration. Ethanol concentration decrease after 24 h for all the processes. In all set up with NPs, the pH was observed to be stable and the stability was directly proportional to nanoparticles concentrations. These findings suggest that the presence of some of the NPs in the bioprocesses has catalytic and pH stabilizing potential. Ethanol production by Saccharomyces cerevisiae BY4743 was enhanced in the presence of Cobalt NPs, Copper NPs and Manganese NPs. Optimization study using response surface methodology (RSM) will further elucidate the impact of these nanoparticles on bioethanol production.
Digital Article Identifier (DAI):
1499
83439
No Histological and Biochemical Changes Following Administration of Tenofovir Nanoparticles: Animal Model Study
Abstract:
Introduction: Nano-drugs are novel innovations in the management of human immunodeficiency virus (HIV) pandemic, especially resistant strains of the virus in their sanctuary sites: testis and the brain. There are safety concerns to be addressed to achieve the full potential of this new drug delivery system. Aim of study: Our study was designed to investigate toxicity profile of Tenofovir Nanoparticle (TDF-N) synthesized by University of Kwazulu-Natal (UKZN) Nano-team for prevention and treatment of HIV infection. Methodology: Ten adult male Sprague-Dawley rats maintained at the Animal House of the Biomedical Resources Unit UKZN were used for the study. The animals were weighed and divided into two groups of 5 animal each. Control animals (A) were administered with normal saline. Therapeutic dose (4.3 mg/kg) of TDF-N was administered to group B. At the end of four weeks, animals were weighed and sacrificed. Liver and kidney were removed fixed in formal saline, processed and stained using H/E, PAS and MT stains for light microscopy. Serum was obtained for renal function test (RFT), liver function test (LFT) and full blood count (FBC) using appropriate analysers. Cellular measurements were done using ImageJ and Leica software 2.0. Data were analysed using graph pad 6, values < 0.05 were significant. Results: We reported no histological alterations in the liver, kidney, FBC, LFT and RFT between the TDF-N animals and saline control. There were no significant differences in weight, organo-somatic index and histological measurements in the treatment group when compared with saline control. Conclusion/recommendations: TDF-N is not toxic to the liver, kidney and blood cells in our study. More studies using human subjects is recommended.
Digital Article Identifier (DAI):
1498
83426
Positive Effects of Natural Gas Use on Air Pollution
Abstract:
Air pollution, a consequence of urbanization brought about by modern life, is as global as it is local and regional. Because of the adverse effects of air pollution on human health, air quality is given importance all over the world. According to the decision of the World Health Organization, clean air is the basic necessity for human health and well-being. It poses a very high risk especially for heart diseases and stroke cases. In this study, the positive effects of natural gas usage on air pollution in cities are explained by using literature scans and air pollution measurement values. Natural gas is cleaner than other types of fuel. It contains less sulfur and organic sulfur compounds. When natural gas burns, it does not leave ashes, it does not cause problems in the rubbish mountains. It's a clean fuel, it easily burns and shines. It is a burning gas that is easy and efficient. In addition, there is not a toxic effect for people in case of inhalation. As a result, the use of natural gas needs to be widespread to reduce air pollution around the world in order to provide a healthier life for people and the environment.
Digital Article Identifier (DAI):
1497
83400
An Analysis on Fibre-Reinforced Composite Material Usage on Urban Furniture
Abstract:
Polymer composite materials have been started to be used as materials increasingly due to the developments in technology. Scientific studies on these materials which can be used in many fields due to their structures and features continue intensely. In this study, the advantages provided by the using fiber-reinforced composite materials in the production of urban furniture from which comfort and performance features are demanded together were dealt with in detail. Samples of composite material produced with glass fiber reinforcement for polyester matrixes were tested. The applied tests included; scanning with electron microscope (SEM) observation of surface and climatic environmental test. The effects of humidity, temperature and heat changes on the fiber-reinforced material were tested in climatization cabinets. Mechanical and climatization test results of fiber-reinforced composite samples were compared with the features of wooden, metal materials used in the production of urban furniture.
Digital Article Identifier (DAI):
1496
83145
An in silico Approach for Exploring the Intercellular Communication in Cancer Cells
Abstract:
Intercellular communication is a necessary condition for cellular functions and it allows a group of cells to survive as a population. Throughout this interaction, the cells work in a coordinated and collaborative way which facilitates their survival. In the case of cancerous cells, these take advantage of intercellular communication to preserve their malignancy, since through these physical unions they can send signs of malignancy. The Wnt/β-catenin signaling pathway plays an important role in the formation of intercellular communications, being also involved in a large number of cellular processes such as proliferation, differentiation, adhesion, cell survival, and cell death. The modeling and simulation of cellular signaling systems have found valuable support in a wide range of modeling approaches, which cover a wide spectrum ranging from mathematical models; e.g., ordinary differential equations, statistical methods, and numerical methods– to computational models; e.g., process algebra for modeling behavior and variation in molecular systems. Based on these models, different simulation tools have been developed from mathematical ones to computational ones. Regarding cellular and molecular processes in cancer, its study has also found a valuable support in different simulation tools that, covering a spectrum as mentioned above, have allowed the in silico experimentation of this phenomenon at the cellular and molecular level. In this work, we simulate and explore the complex interaction patterns of intercellular communication in cancer cells using the Cellulat bioinformatics tool, a computational simulation tool developed by us and motivated by two key elements: 1) a biochemically inspired model of self-organizing coordination in tuple spaces, and 2) the Gillespie’s algorithm, a stochastic simulation algorithm typically used to mimic systems of chemical/biochemical reactions in an efficient and accurate way. The main idea behind the Cellulat simulation tool is to provide an in silico experimentation environment that complements and guides in vitro experimentation in intra and intercellular signaling networks. Unlike most of the cell signaling simulation tools, such as E-Cell, BetaWB and Cell Illustrator which provides abstractions to model only intracellular behavior, Cellulat is appropriate for modeling both intracellular signaling and intercellular communication, providing the abstractions required to model –and as a result, simulate– the interaction mechanisms that involve two or more cells, that is essential in the scenario discussed in this work. During the development of this work we made evident the application of our computational simulation tool (Cellulat) for the modeling and simulation of intercellular communication between normal and cancerous cells, and in this way, propose key molecules that may prevent the arrival of malignant signals to the cells that surround the tumor cells. In this manner, we could identify the significant role that has the Wnt/β-catenin signaling pathway in cellular communication, and therefore, in the dissemination of cancer cells. We verified, using in silico experiments, how the inhibition of this signaling pathway prevents that the cells that surround a cancerous cell are transformed.
Digital Article Identifier (DAI):
1495
83016
Variation of Hedonic Capacity of People According to Age and Its Correlation with Chronotype
Abstract:
Increasing evidence suggests late chronotype individuals are at increased risk of developing psychopathological conditions. Our previously conducted study aimed to know the distribution of chronotypes according to age revealed that evening-types reaching a peak at age 14. While there is growing number of studies evaluating associations between chronotype and affective symptoms, to our best knowledge there are no studies addressing the issue of prevalence of anhedonia according to age groups of people. The sample included 545 healthy students between 13-21 years old from secondary schools and universities of Turkmenistan. Self-report 14 item Snaith-Hamilton Pleasure Scale (SHAPS) was used to assess hedonic tone of students. SHAPS score of 3 or higher indicates the criteria for the anhedonia. According to similarity of hedonic capacity participants divided into three age groups. Group I (age 13-14-15) includes 206 students (92 female), group II (age 16-17) includes 256 students (111 female) and group III (age 18-19-20-21) includes 83 (37 female). Statistical analysis was performed using Microsoft Excel 2013 and GraphPad Prism 7.0 programs. According to results average SHAPS scores of group I is 1.93 ± 1.94, group II 1.08 ± 1.43 and group III 1.29 ± 1.62. Students with anhedonia in group I consisted 30.5%, in group II 13,2% and in group III 12.04%. There are no gender differences. According to questionnaire results, higher prevalence of anhedonia is at the age between 13-15 than other age groups, and hedonic capacity increases as the age of students increases (p < 0.05). As a result, distribution of evening-types according to age correlates with hedonic capacity which is evening-types tends to have lower hedonic capacity.
Digital Article Identifier (DAI):
1494
82975
Quantification and Preference of Facial Asymmetry of the Sub-Saharan Africans' 3D Facial Models
Abstract:
A substantial body of literature has reported on facial symmetry and asymmetry and their role in human mate choice. However, major gaps persist, with nearly all data originating from the WEIRD (Western, Educated, Industrialised, Rich and Developed) populations, and results remaining largely equivocal when compared across studies. This study is aimed at quantifying facial asymmetry from the 3D faces of the Hausa of northern Nigeria and also aimed at determining their (Hausa) perceptions and judgements of standardised facial images with different levels of asymmetry using questionnaires. Data were analysed using R-studio software and results indicated that individuals with lower levels of facial asymmetry (near facial symmetry) were perceived as more attractive, more suitable as marriage partners and more caring, whereas individuals with higher levels of facial asymmetry were perceived as more aggressive. The study conclusively asserts that all faces are asymmetric including the most beautiful ones, and the preference of less asymmetric faces was not just dependent on single facial trait, but rather on multiple facial traits; thus the study supports that physical attractiveness is not just an arbitrary social construct, but at least in part a cue to general health and possibly related to environmental context.
Digital Article Identifier (DAI):
1493
82834
STR and SNP Markers of Y-Chromosome Unveil Similarity between the Gene Pool of Kurds and Yezidis
Abstract:
The Middle East is crossroad of different populations at different times. The Kurds are of particular interest in this region. Historical sources suggested that the origin of the Kurds is associated with Medes. Therefore, it was especially interesting to compare gene pool of Kurds with other supposed descendants of Medes-Tats. Yezidis are ethno confessional group of Kurds. Yezidism as a confessional teaching was formed in the XI-XIII centuries in Iraq. Yezidism has caused reproductively isolation of Yezidis from neighboring populations for centuries. Also, isolation helps to retain Yezidian caste system. It is unknown how the history of Yezidis affected its genу pool because it has never been the object of researching. We have examined the Y-chromosome variation in Yezidis and Kurdish males to understand their gene pool. We collected DNA samples from 90 Yezidi males and 24 Kurdish males together with their pedigrees. We performed Y-STR analysis of 17 loci in the samples collected (Yfiler system from Applied Biosystems) and analysis of 42 Y-SNPs by real-time PCR. We compared our data with published data from other Kurdish groups and from European, Caucasian, and West Asian populations. We found that gene pool of Yezidis contains haplogroups common in the Middle East (J-M172(xM67,M12)- 24%, E-M35(xM78)- 9%) and in South Western Asia (R-M124- 8%) and variant with wide distribution area - R-M198(xM458- 9%). The gene pool of Kurdish has higher genetic diversity than Yezidis. Their dominants haplogroups are R-M198- 20,3 %, E-M35- 9%, J-M172- 9%. Multidimensional scaling also shows that the Kurds and Yezidis are part of the same frontier Asian cluster, which, in addition, included Armenians, Iranians, Turks, and Greeks. At the same time, the peoples of the Caucasus and Europe form isolated clusters that do not overlap with the Asian clusters. It is noteworthy that Kurds from our study gravitate towards Tats, which indicates that most likely these two populations are descendants of ancient Medes population. Multidimensional scaling also reveals similarity between gene pool of Yezidis, Kurds with Armenians and Iranians. The analysis of Yezidis pedigrees and their STR variability did not reveal a reliable connection between genetic diversity and caste system. This indicates that the Yezidis caste system is a social division and not a biological one. Thus, we showed that, despite many years of isolation, the gene pool of Yezidis retained a common layer with the gene pool of Kurds, these populations have common spectrum of haplogroups, but Yezidis have lower genetic diversity than Kurds. This study received primary support from the RSF grant No. 16-36-00122 to MC and grant No. 16-06-00364 to EP.
Digital Article Identifier (DAI):
1492
82788
Development of Soft-Core System for Heart Rate and Oxygen Saturation
Abstract:
This paper is about development of non-invasive heart rate and oxygen saturation in human blood using Altera NIOS II soft-core processor system. In today's world, the monitoring oxygen saturation and heart rate are very important in hospitals to keep track of low oxygen levels in blood and heart rate. We have designed an Embedded System On Peripheral Chip (SOPC) reconfigurable system by interfacing two wavelengths of light using two LED’s (660nm/940nm) with a single photo-detector to measure the absorptions of haemoglobin species at different wavelengths. The implementation of the interface with Finger Probe and Liquid Crystal Display (LCD) was carried out using NIOS II soft-core system running on Altera NANO DE0 board having target as Cyclone IVE. This designed system is used to monitor oxygen saturation in blood and heart rate for different test subjects. The designed NIOS II processor based non-invasive heart rate and oxygen saturation were verified with another Operon Pulse oximeter for 50 measurements on 10 different subjects. It was found that the readings taken were very close to the Operon Pulse oximeter.
Digital Article Identifier (DAI):
1491
82218
Increasing Farm Productivity and Soil Fertility on Sustainable Basis through Summer Gap Utilization with Biochar and Legumes
Abstract:
To reduce reliance on scientific fertilizer due to the rapid increase of fertilizer prices and environmental constraint, it necessary to improve crop productivity and soil fertility on sustainable basses. Utilization of summer gap through biochar and legumes have pleasant effects on improving crop productivity and soil fertility on long-term basses. Two years field experiments were conducted on wheat and maize crops with summer gap utilization with legumes and biochar at research farm of agronomy, the University of Agriculture Peshawar during 2011-2013. Wheat-maize-wheat cropping system was followed with the adjustment of legumes in summer gap (land available after wheat harvest till maize sowing). Legumes i.e. mungbean, cowpea, and Sesbania with a fallow were adjusted in the summer gap with and without biochar application. Biochar was included at the rate of 0 and 50 t ha⁻¹ with four N levels of 0, 90, 120, 150 and 0, 60, 90, 120 kg ha⁻¹ to subsequent maize and wheat crops, respectively. In legumes’ experiment, biochar increased fresh and dry fodder yield in cowpea and Sesbania, grain and biological yields in mungbean. In maize experiments, biochar improved grain yield. Nitrogen application increased grain and biological yields. In wheat experiments with increasing nitrogen level enhanced biological and grain yields. It is concluded that use of biochar and legumes in summer gape improve overall farm productivity and soil fertility on sustainable basses.
Digital Article Identifier (DAI):
1490
82108
In silico Subtractive Genomics Approach for Identification of Strain-Specific Putative Drug Candidates among Hypothetical Proteins of Drug-Resistant Klebsiella pneumoniae Strain 825795-1
Abstract:
Klebsiella pneumoniae, a Gram-negative enteric bacterium that causes nosocomial and urinary tract infections. Particular concern is the global emergence of multidrug-resistant (MDR) strains of Klebsiella pneumoniae. Characterization of antibiotic resistance determinants at the genomic level plays a critical role in understanding, and potentially controlling, the spread of multidrug-resistant (MDR) pathogens. In this study, drug-resistant Klebsiella pneumoniae strain 825795-1 was investigated with extensive computational approaches aimed at identifying novel drug targets among hypothetical proteins. We have analyzed 1099 hypothetical proteins available in genome. We have used in-silico genome subtraction methodology to design potential and pathogen-specific drug targets against Klebsiella pneumoniae. We employed bioinformatics tools to subtract the strain-specific paralogous and host-specific homologous sequences from the bacterial proteome. The sorted 645 proteins were further refined to identify the essential genes in the pathogenic bacterium using the database of essential genes (DEG). We found 135 unique essential proteins in the target proteome that could be utilized as novel targets to design newer drugs. Further, we identified 49 cytoplasmic protein as potential drug targets through sub-cellular localization prediction. Further, we investigated these proteins in the DrugBank databases, and 11 of the unique essential proteins showed druggability according to the FDA approved drug bank databases with diverse broad-spectrum property. The results of this study will facilitate discovery of new drugs against Klebsiella pneumoniae.
Digital Article Identifier (DAI):
1489
82019
A Cross Culture Analysis of Medicinal Plants and Phytotherapies: Highly Effective for Gastropathic Disorders among Three Ethnic Communities of South West Pakistan
Abstract:
Gastropathic disorders are increasing rapidly and millions patients are reported every years across the world. Herbal medicines and traditional phytotherapies are very effective for many diseases including gastropathic ailments. Many communities and study region have their own unique remedies for such diseases. The current study was aimed to investigate and document high valued medicinal plants and folk remedies for different gastropathic disorders among the three ethnic groups of three regions in South West Pakistan. A total of 104 semi-structured interviews involving experts of traditional knowledge in 21 localities of the three regions (D.I. Khan, Zhob and Mianwali) were conducted. The interviews were especially focused on the documentation of folk herbal remedies. The collected data was analyzed using different quantitative methods. The highly effective plants from all localities were identified with the help of local interviewers and collected for proper taxonomic identification. A total of 56 medicinal plants and 33 effective recipes for 12 gastropathic diseases were documented from all the three ethnic groups in 21 localities. Fabaceae and Asteraceae were most prominently used for different gastropathic diseases. Diarrhea, vomiting and dysentery were the most commonly diseases treated with herbal remedies. It was observed that the three communities shared knowledge about the use of medicinal plants, 35 species were commonly reported from all three areas. However, each community had also their own unique uses of medicinal plants, e.g. 23 plants species were only used in Zhob, 20 plant species were only reported in D.I. Khan and 16 species in Mianwali. The present study reveals that different communities and ethnic groups share some traditional knowledge and also have their own unique knowledge of plants utilization. Gastropathic disorder is increasing very rapidly and the traditional cross-cultural knowledge of medicinal plants use can be very effective for its cure.
Digital Article Identifier (DAI):
1488
82018
Phytogeography and Regional Conservation Status of Gymnosperms in Pakistan
Abstract:
In the present study, phytogeography and conservation status of gymnosperms of Pakistan were investigated. 44 gymnosperms species of 18 genera and 9 families were collected from 66 districts of the country. Among the 44 species, 20 species were native (wild) and 24 species were exotic (cultivated). Ephedra sarocarpa of Ephedraceae was not collected in this study from its distribution area and most probably it may be Nationally Extinct now from this area. Previously in Gymnosperms Flora of Pakistan 34 species was reported. 12 new gymnosperms species were recorded for the first time. Pinus wallichiana (40 districts), Cedrus deodara (39 districts) Pinus roxburghii (36 districts), Picea smithiana (36 districts) and Abies pindrow (34 districts) have the maximum ecological amplitude. Juniperus communis (17districts) and Juniperus excelsa (14 districts) were the widely distributed among the junipers. Ephedra foliata (23 districts), Ephedra gerardiana (20 districts) and Ephedra intermedia (19 districts) has the widest distribution range. Taxus fuana was also wider distribution range and recorded in 19 districts but its population was not very stable. These species was recorded to support local flora and fuana, especially endemics. PCORD version 5 clustered all gymnosperms species into 4 communities and all localities into 5 groups through cluster analyses. The Two Way Cluster Analyses of 66 districts (localities) resulted 4 various plant communities. The Gymnosperms in Pakistan are distributed in 3 floristic regions i.e. Western plains of the country, Northern and Western mountainous regions and Western Himalayas. The assessment of the National conservation status of these species, 10 species were found to be threatened, 6 species were endangered, 4 species were critically endangered and 1 species have become extinct (Ephedra sarcocarpa). The population of some species i.e. Taxus fuana, Ephedra gerardiana, Ephedra monosperma, Picea smithiana and Abies spectabilis is decreasing at an alarming rate.
Digital Article Identifier (DAI):
1487
82016
Palyno-Morphological Characteristics of Gymnosperm Flora of Pakistan and Its Taxonomic Implications with Light Microscope and Scanning Electron Microscopy Methods
Abstract:
The present study is intended to assess gymnosperms pollen flora of Pakistan using Light Microscope (LM) and Scanning Electron Microscopy (SEM) for its taxonomic significance in identification of gymnosperms. Pollens of 35 gymnosperm species (12 genera and five families) were collected from its various distributional sites of gymnosperms in Pakistan. LM and SEM were used to investigate different palyno-morphological characteristics. Five pollen types (i.e., Inaperturate, Monolete, Monoporate, Vesiculate-bisaccate, and Polyplicate) were observed. In equatorial view seven types of pollens were observed, in which ten species were sub-angular, nine species were triangular, six species were perprolate, three species were rhomboidal, three species were semi-angular, two species were rectangular and two species were prolate. While five types of pollen were observed in polar view, in which ten species were spheroidal, nine species were angular, eight were interlobate, six species were circular, and two species were elliptic. Eighteen species have rugulate and 17 species has faveolate ornamentation. Eighteen species have verrucate and 17 have gemmate type sculpturing. The data was analysed through cluster analysis. The study showed that these palyno-morphological features have significance value in classification and identification of gymnosperms. Based on these different palyno-morphological features, a taxonomic key was proposed for the accurate and fast identifications of gymnosperms from Pakistan.
Digital Article Identifier (DAI):
1486
81716
Growth Kinetic Analysis of Grey Oyster Mushroom (Pleurotus pulmonarious) Spore Induction Spawn from Various Preservation Treatments
Abstract:
Mushroom spawns is easily spoiled upon maturation and has limited storage duration. A study was conducted to determine a reliable preservation technique for Pleurotus pulmonarious spawn in the aspect of maximum specific growth rate and doubling time derived from growth kinetic profiling and Contois kinetic model. The spawn, which prepared by spore induction technique was compared with the preserved spawn using cryopreservation, lyophilization, and 4 °C refrigeration techniques. The untreated spawn as expected exhibited higher growth rate which is 0.22d⁻¹. This is followed by lyophilized (0.148 d⁻¹), cryopreserved (0.148 d⁻¹) and 4 °C refrigerated (0.113 d⁻¹) spawn. Lyophilization technique is considered a reliable preservation technique without significantly destroyed the biochemical content of the spawn.
Digital Article Identifier (DAI):
1485
81686
Stress Media and Physico-Chemical Factors Optimization of Grey Oyster Mushroom (Pleurotus pulmonarius) Induced-Sporulation
Abstract:
Tissue culture technique is very well known technique for commercial production of Pleurotus pulmonarious or grey oyster mushroom. However, regularly subculturing in this technique lead to quality reduction due to somaclonal variation. Therefore, the use of spore may give an interesting option for commercially produced mushroom spawn. Induction of spore in short period is an advantage over normal sporulation that took longer time for mushroom maturity. This study aims to investigate the optimization of important factors for inducing sporulation or so call as chlamydospore of P. pulmonarious and evaluation on its performance and yield. The sporulation was induced by using various stress media namely D-Glucose Soluble Starch, D-Glucose CaCl.2H₂O, D-Glucose NaCl, D-Glucose PEG6000, D-Glucose Glycerol, and D-Glucose Na₂SO₄. The studied parameters for optimization were pH, temperature and incubation period. It was found that, D-glucose soluble starch stress medium showed the highest chlamydospore production. The optimum condition for highest chlamydospore production was achieved after 72 hours, at pH 6 and 26˚C of temperature by using 1.5 x 10⁷ inoculum size that produced 4.5 x10⁷ of spore counts. It is proven that grey oyster mushroom sporulation can be induced and optimized to appropriate number of spores and showed better output performance after cultivation.
Digital Article Identifier (DAI):
1484
81559
A Brief History of Kampo Extract Formulations for Prescription in Japan
Abstract:
Background: Kampo (Japanese Traditional medicine) is a medicine traditionally practiced in Japan, based on ancient Chinese medicine. Most Kampo doctors have used decoction of crude drug pieces for treatment. 93% of the Kampo drugs sold in Japan are Kampo products nowadays. Of all Kampo products, 81% of them are Kampo extract formulations for prescription, which is prepared in powdered or granulated form from medicinal crude drug extracts mixed with appropriate excipient. Physicians with medical license for Western medicine prescribe these Kampo extract formulations for prescription in Japan. Objectives: Our study aims at presenting a brief history of Kampo extract formulations for prescription in Japan. Methods: Systematic searches for relevant studies were conducted using not only printed journals but also electronic journals from the bibliographic databases, such as PubMed/Medline, Ichushi-Web, and university/institutional websites, as well as search engines, such as Google and Google Scholar. Results: The first commercialization of Kampo extract formulations for general use (or OTC (over-the-counter) Kampo extract formulation) was achieved after 1957. The number of drugs has been subsequentially increased, reaching 148 Kampo extract formulation for prescription currently. Conclusion: We provide a history of Kampo extract formulations for prescription in Japan. The originality of this research is that it analyzes the background history of Kampo in parallel with relevant transitions in the government and insurance systems.
Digital Article Identifier (DAI):
1483
81413
Collagen/Hydroxyapatite Compositions Doped with Transitional Metals for Bone Tissue Engineering Applications
Abstract:
In the last years, scientists struggled hardly to mimic bone structures to develop implants and biostructures which present higher biocompatibility and reduced rejection rate. One way to obtain this goal is to use similar materials as that of bone, namely collagen/hydroxyapatite composite materials. However, it is very important to tailor both compositions but also the microstructure of the bone that would ensure both the optimal osteointegartion and the mechanical properties required by the application. In this study, new collagen/hydroxyapatites composite materials doped with Cu, Li, Mn, Zn were successfully prepared. The synthesis method is described below: weight the Ca(OH)₂ mass, i.e., 7,3067g, and ZnCl₂ (0.134g), CuSO₄ (0.159g), LiCO₃ (0.133g), MnCl₂.4H₂O (0.1971g), and suspend in 100ml distilled water under magnetic stirring. The solution thus obtained is added a solution of NaH₂PO₄*H2O (8.247g dissolved in 50ml distilled water) under slow dropping of 1 ml/min followed by adjusting the pH to 9.5 with HCl and finally filter and wash until neutral pH. The as-obtained slurry was dried in the oven at 80°C and then calcined at 600°C in order to ensure a proper purification of the final product of organic phases, also inducing a proper sterilization of the mixture before insertion into the collagen matrix. The collagen/hydroxyapatite composite materials are tailored from morphological point of view to optimize their biocompatibility and bio-integration against mechanical properties whereas the addition of the dopants is aimed to improve the biological activity of the samples. The addition of transitional metals can improve the biocompatibility and especially the osteoblasts adhesion (Mn²⁺) or to induce slightly better osteoblast differentiation of the osteoblast, Zn²⁺ being a cofactor for many enzymes including those responsible for cell differentiation. If the amount is too high, the final material can become toxic and lose all of its biocompatibility. In order to achieve a good biocompatibility and not reach the cytotoxic effect, the amount of transitional metals added has to be maintained at low levels (0.5% molar). The amount of transitional metals entering into the elemental cell of HA will be verified using inductively-coupled plasma mass spectrometric system. This highly sensitive technique is necessary, because, at such low levels of transitional metals, the difference between biocompatible and cytotoxic is a very thin line, thus requiring proper and thorough investigation using a precise technique. In order to determine the structure and morphology of the obtained composite materials, IR spectroscopy, X-Ray diffraction (XRD), scanning electron microscopy (SEM), and Energy Dispersive X-Ray Spectrometry (EDS) were used. Acknowledgment: The present work was possible due to the EU-funding grant POSCCE-A2O2.2.1-2013-1, Project No. 638/12.03.2014, code SMIS-CSNR 48652. The financial contribution received from the national project “Biomimetic porous structures obtained by 3D printing developed for bone tissue engineering (BIOGRAFTPRINT), No. 127PED/2017 is also highly acknowledged.
Digital Article Identifier (DAI):
1482
81407
Combining in vitro Protein Expression with AlphaLISA Technology to Study Protein-Protein Interaction
Abstract:
The demand for a rapid and more efficient technique to identify protein-protein interaction particularly in the areas of therapeutics and diagnostics development is growing. The method described here is a rapid in vitro protein-protein interaction analysis approach based on AlphaLISA technology combined with Leishmania tarentolae cell-free protein production (LTE) system. Cell-free protein synthesis allows the rapid production of recombinant proteins in a multiplexed format. Among available in vitro expression systems, LTE offers several advantages over other eukaryotic cell-free systems. It is based on a fast growing fermentable organism that is inexpensive in cultivation and lysate production. High integrity of proteins produced in this system and the ability to co-express multiple proteins makes it a desirable method for screening protein interactions. Following the translation of protein pairs in LTE system, the physical interaction between proteins of interests is analysed by AlphaLISA assay. The assay is performed using unpurified in vitro translation reaction and therefore can be readily multiplexed. This approach can be used in various research applications such as epitope mapping, antigen-antibody analysis and protein interaction network mapping. The intra-viral protein interaction network of Zika virus was studied using the developed technique. The viral proteins were co-expressed pair-wise in LTE and all possible interactions among viral proteins were tested using AlphaLISA. The assay resulted to the identification of 54 intra-viral protein-protein interactions from which 19 binary interactions were found to be novel. The presented technique provides a powerful tool for rapid analysis of protein-protein interaction with high sensitivity and throughput.
Digital Article Identifier (DAI):
1481
81073
Comparative Production of Secondary Metabolites by Prunus africana (Hook. F.) Kalkman Provenances in Cameroon and Some Associated Endophytic Fungi
Abstract:
Prunus africana (Hook. F.) Kalkman, commonly known as Pygeum or African cherry belongs to the Rosaceae family. It is a medium to large, evergreen tree with a spreading crown of 10 to 20 m. It is used by the traditional medical practitioners for the treatment of over 45ailments in Cameroon and sub-Sahara Africa. In modern medicine, it is used in the treatment of benign prostrate hyperplasia (BPH), prostate gland hypertrophy (enlarged prostate glands). This is possible because of its ability to produce some secondary metabolites which are believed to have bioactivity against these ailments. The ready international market for the sale of Prunus bark, uncontrolled exploitation, illegal harvesting using inappropriate techniques and poor timing of harvesting have contributed enormously to making the plant endangered. It is known to harbor a large number of endophytic fungi with the potential to produce similar secondary metabolites as the parent plant. Alternative sourcing of medicinal principles through endophytic fungi requires succinct knowledge of the endophytic fungi. This will serve as a conservation measure for Prunus africana by reducing dependence on Prunus bark for such metabolites. This work thus sought to compare the production of some major secondary metabolites produced by P. africana and some of its associated endophytic fungi. The leaves and stem bark of the plant from different provenances were soaked in methanol for 72 hrs to yield the methanolic crude extract. The phytochemical screening of the methanolic crude extracts using different standard procedures revealed the presence of tannins, flavonoids, terpenoids, saponins, phenolics and steroids. Pure cultures of some predominantly isolated endophyte species from the difference Prunus provenances such as Curvularia sp, and Morphospecies P001 were also grown in Potato Dextrose Broth (PDB) for 21 days and later extracted with Methylene dichloride (MDC) solvent after 24hrs to produce crude culture extracts. Qualitative assessment of crude culture extracts showed the presence of tannins, terpenoids, phenolics and steroids particularly β-Sitosterol, (a major bioactive metabolite) as did the plant tissues. Qualitative analysis by thin layer chromatography (TLC) was done to confirm and compare the production of β-Sitosterol (as marker compounds) in the crude extracts of the plant and endophyte. Samples were loaded on TLC silica gel aluminium barked plate (Kieselgel 60 F254, 0.2 mm, Merck) using acetone/hexane, (3.0:7.0) solvent system. They were visualized under an ultra violet lamp (UV254 and UV360). TLC revealed that leaves had a higher concentration of β-sitosterol in terms of band intensity than stem barks from the different provenances. The intensity of β-sitosterol bands in the culture extracts of endophytes was comparable to the plant extracts except for Curvularia sp (very minute) whose band was very faint. The ability of these fungi to make β-sitosterol was confirmed by TLC analysis with the compound having chromatographic properties (retention factor) similar to those of β-sitosterol standard. The ability of these major endophytes to produce secondary metabolites similar to the host has therefore been demonstrated. There is, therefore, the potential of developing the in vitro production system of Prunus secondary metabolites thereby enhancing its conservation.
Digital Article Identifier (DAI):
1480
80998
Mesoporous Titania Thin Films for Gentamicin Delivery and Bone Morphogenetic Protein-2 Immobilization
Abstract:
The antibacterial capacity of bone-anchoring implants can be improved by the use of antibiotics that can be delivered to the media after the surgery. Mesoporous films have shown great potential in drug delivery for orthopedic applications, since pore size and thickness can be tuned to produce different surface area and free volume inside the material. This work shows the synthesis of mesoporous titania films (MTF) by sol-gel chemistry and evaporation-induced self-assembly (EISA) on top of glass substrates. Pores with a diameter of 12nm were observed by Transmission Electron Microscopy (TEM). A film thickness of 100 nm was measured by Scanning Electron Microscopy (SEM). Gentamicin was used to study the antibiotic delivery from the film by means of High-performance liquid chromatography (HPLC). The Staphilococcus aureus strand was used to evaluate the effectiveness of the penicillin loaded films toward inhibiting bacterial colonization. MC3T3-E1 pre-osteoblast cell proliferation experiments proved that MTFs have a good biocompatibility and are a suitable surface for MC3T3-E1 cell proliferation. Moreover, images taken by Confocal Fluorescence Microscopy using labeled vinculin, showed good adhesion of the MC3T3-E1 cells to the MTFs, as well as complex actin filaments arrangement. In order to improve cell proliferation Bone Morphogenetic Protein-2 (BMP-2) was adsorbed on top of the mesoporous film. The deposition of the protein was proved by measurements in the contact angle, showing an increment in the hydrophobicity while the protein concentration is higher. By measuring the dehydrogenase activity in MC3T3-E1 cells cultured in dually functionalized mesoporous titatina films with gentamicin and BMP-2 is possible to find an improvement in cell proliferation. For this purpose, the absorption of a yellow-color formazan dye, product of a water-soluble salt (WST-8) reduction by the dehydrogenases, is measured. In summary, this study proves that by means of the surface modification of MTFs with proteins and loading of gentamicin is possible to achieve an antibacterial effect and a cell growth improvement.
Digital Article Identifier (DAI):
1479
80962
Evaluation of Two DNA Vaccine Constructs in Labeo rohita against Edwardsiella tarda
Abstract:
A comparative study on DNA immunization with recombinant glyceraldehyde-3-phosphate dehydrogenase (GAPDH) construct of Edwardsiella tarda (pGPD group) and a bicistronic construct expressing GAPDH plus IFN-γ of Labeo rohita as adjuvant (pGPD+IFN group) was undertaken in Labeo rohita along with the control animals. Successful co-expression of two genes that is GAPDH and IFN-γ was confirmed in SSN-1 cells line by RT-qPCR and western blot. The protective immune response of host to DNA vaccine construct was determined by RPS and specific antibody production. Fishes immunized with plasmids via intramuscular injection (I/M) exhibited a considerable relative percentage survivability of 66.66% in pGPD+IFN immunized group and 53.34% in pGPD immunized group after challenge with E. tarda. Antibody response was also significantly high in pGPD+IFN group at all time points under study. This was analysed by competitive ELISA, using anti GAPDH monoclonal antibodies. The experiment revealed that the GAPDH gene of E. tarda is one of the ideal candidates for generating protective immune response in L. rohita. Further addition of Interferon gamma to DNA vaccine construct can enhance the immune response in host.
Digital Article Identifier (DAI):
1478
80720
Determination of Internal Bruising of Solid-Like Agricultural Products through Reverse Engineering and Time-Dependant FEM Simulation Techniques: A Case Study for a Potato Flesh at the Impact
Abstract:
One of the serious problems in the potato industry is potato bruising due to mechanical impact in harvest and post-harvest operations and this type of bruising is one of the major causes of consumer complaint and an economic drain on the industry. Most especially, internal bruising is an undesired phenomenon since it may progress in time during storage or transportation and understanding or/and determining the internal bruising in solid-like agricultural products such as potatoes is difficult as this type of bruising may not be noticed at the first sight just after mechanical damage such as at external impact or drop. This study focuses on determining bruise progression and the realistic representation of time dependent nonlinear deformation behaviour of a potato under a sample impact case. A reverse engineering approach, physical material tests and finite element method (FEM)-based explicit dynamics simulations were utilised to investigate impact deformation characteristics of the potato. Useful numerical data and deformation visuals were obtained from the simulation results. The numerical results presented in a format that can be used in determination of bruise susceptibility magnitude on solid-like agricultural products. This study contributes to further research on the usage of numerical-methods-based nonlinear explicit dynamics simulation techniques in complicated deformation and bruising investigations and industrial applications related to solid-like agricultural products.
Digital Article Identifier (DAI):
1477
80698
Impact of Mixed Prey Population on Predation Potential and Food Preference of a Predaceous Ladybird, Coccinella septempunctata
Authors:
Abstract:
We investigated predation potential and food preference of different life stages of a predaceous ladybird Coccinella septempunctata L. (Coleptera: Coccinellidae) using a nutritive food (mustard aphid, Lipaphis erysimi) and a toxic food (cabbage aphid, Brevicoryne brassicae). We gave monotypic prey, L. erysimi, then B. brassicae to all life stages and found that second, third and fourth instars and adult female C. septempunctata daily consumed greater number of former prey. However, the first instar and the adult male equally consumed both the prey. In choice condition, each larva, adult male and female consumed mixed aphid diet separately in three proportions (i.e. low: high, equal: equal and high: low densities of L. erysimi: B. brassicae). We hypothesized that life stages of C. septempunctata will prefer L. erysimi regardless of its proportions. Laboratory experiment supported this hypothesis only at the adult level showing high values of β and C preference indices. However, it rejects this hypothesis at the larval level, as larvae preferred B. brassicae in certain combinations and showed no preference in a few combinations. We infer that mixing of nutritive diet in a toxic diet may possibly overcome the probable nutritive deficiency and/or reduces the toxicity of toxic diet, especially to the larvae of C. septempunctata. Consumption of high proportion of B. brassicae mixed with fewer L. erysimi suggests that mixed diet could be better for the development of immature stages of C. septempunctata.
Digital Article Identifier (DAI):
1476
80640
Optimization of Biodiesel Production from Sunflower Oil Using Central Composite Design
Abstract:
The increase of worldwide population and the industrialisation of the 21st century have caused a high demand for fuels. The decrease of global fossil fuels deposits and the environmental air pollution caused by these fuels are added challenges. Therefore, there is a need for developing new forms of environmentally friendly and renewable fuels; biodiesel is one of them. The effect of catalyst ratio and methanol to oil ratio on biodiesel production was investigated by the use of central composite design. Biodiesel was produced by the reaction called transesterification using sodium hydroxide as a homogeneous catalyst; a flat bottom flask mounts with a reflux condenser on a heating plate was used as laboratory scale reactor, time, temperature and mixing rate were kept constant at 60 minutes, 60 °C and 600 RPM, respectively. From the results obtained it was observed that the biodiesel yield depends on catalyst ratio and methanol to oil ratio. The highest yield of 50.65 % was obtained at catalyst ratio of 0.5wt% and methanol to oil mole ratio 10.5. The analysis of variances of biodiesel yield showed the R Squared value of 0.8387. A quadratic mathematical model was developed to predict the biodiesel yield in the specified parameters ranges.
Digital Article Identifier (DAI):
1475
80585
Analysis of Replication Protein A (RPA): The Role of Homolog Interaction and Recombination during Meiosis
Abstract:
During meiosis, meiotic recombination is initiated by Spo11-mediated DSB formation and exonuclease-mediated DSB resection occurs to expose single stranded DNA formation. RPA is further required to inhibit secondary structure formation of ssDNA that can be formed Watson-Crick pairing. Rad51-Dmc1, RecA homologs in eukaryote and their accessory factors involve in searching homolog templates to mediate strand exchange. In this study, we investigate the recombinational roles of replication protein A (RPA), which is heterotrimeric protein that is composed of RPA1, RPA2, and RPA3. Here, we investigated meiotic recombination using DNA physical analysis at the HIS4LEU2 hot spot. In rfa1-119 (K45E, N316S) cells, crossover (CO) and non-crossover (NCO) products reduced than WT. rfa1-119 delayed in single end invasion-to-double holiday junction (SEI-to-dHJ) transition and exhibits a defect in second-end capture that is also modulated by Rad52. In the further experiment, we observed that in rfa1-119 mutant, RPA could not be released in timely manner. Furthermore, rfa1-119 exhibits failure in the second end capture, implying reduction of COs and NCOs. In this talk, we will discuss more detail how RPA involves in chromatin axis association via formation of axis-bridge and why RPA is required for Rad52-mediated second-end capture progression.
Digital Article Identifier (DAI):
1474
80561
Applying Massively Parallel Sequencing to Forensic Soil Bacterial Profiling
Abstract:
Soil can often link a person or item to a crime scene, which makes it a valuable evidence in forensic casework. Several techniques have been utilized in forensic soil discrimination in previous studies. Because soil contains a vast number of microbiomes, the analyse of soil microbiomes is expected to be a potential way to characterise soil evidence. In this study, we applied massively parallel sequencing (MPS) to soil bacterial profiling on the Ion Torrent Personal Genome Machine (PGM). Soils from different regions were collected repeatedly. V-region 3 and 4 of Bacterial 16S rRNA gene were detected by MPS. Operational taxonomic units (OTU, 97%) were used to analyse soil bacteria. Several bioinformatics methods (PCoA, NMDS, Metastats, LEfse, and Heatmap) were applied in bacterial profiles. Our results demonstrate that MPS can provide a more detailed picture of the soil microbiomes and the composition of soil bacterial components from different region was individualistic. In conclusion, the utility of soil bacterial profiling via MPS of the 16S rRNA gene has potential value in characterising soil evidences and associating them with their place of origin, which can play an important role in forensic science in the future.
Digital Article Identifier (DAI):
1473
80548
Performance of a Lytic Bacteriophage Cocktail against Pseudomonas aeruginosa in Conditions That Simulate the Cystic Fibrosis Lung Environment
Abstract:
Objectives: The cystic fibrosis (CF) lung is a unique microbiological niche, wherein harmful bacteria persist for many years despite antibiotic therapy. Pseudomonas aeruginosa (Pa), the major culprit leading to lung decline and increased mortality, thrives in the lungs of patients with CF due to several factors that have been linked with poor antibiotic performance. Our group is investigating alternative therapies including bacteriophage cocktails with which we have previously demonstrated efficacy against planktonic organisms. In this study, we explored the effects of a 4-phage cocktail on Pa grown in two different conditions, intended to mirror the CF lung: a) alongside standard antibiotic treatment in pre-formed biofilms (structures formed by Pa-secreted exopolysaccharides which provide both physical and cell division barriers to antimicrobials and host defenses and b) in an acidic environment postulated to be present in the CF airway due both to the primary defect in bicarbonate secretion and secondary effects of inflammation. Methods: 16 Pa strains from CF patients at the Royal Brompton Hospital were selected based on sensitivity to a) ceftazidime/ tobramycin and b) the phage cocktail in a conventional plaque assay. To assess efficacy of phage in biofilms, 96 well plates with Pa (5x10⁷ CFU/ ml) were incubated in static conditions, allowing adherent bacterial colonies to form for 24 hr. Ceftazidime and tobramycin (both at 2 × MIC) were added, +/- bacteriophage (4x10⁸ PFU/mL) for a further 24 hr. Cell viability and biomass were estimated using fluorescent resazurin and crystal violet assays, respectively. To evaluate the effect of pH, strains were grown planktonically in shaking 96 well plates at pH 6.0, 6.6, 7.0 and 7.5 with tobramycin or phage, at varying concentrations. Cell viability was quantified by fluorescent resazurin assay. Results: For the biofilm assay, treatment groups were compared with untreated controls and expressed as percent reduction in cell viability and biomass. Addition of the 4-phage cocktail resulted in a 1.3-fold reduction in cell viability and 1.7-fold reduction in biomass (p < 0.001) when compared to standard antibiotic treatment alone. Notably, there was a 50 ± 15% reduction in cell viability and 60 ± 12% reduction in biomass (95% CI) for the 4 biofilms demonstrating the most resistance to antibiotic treatment. 83% of strains tested (n=6) showed decreased bacterial killing by tobramycin at acidic pHs (p < 0.01). However, 25% of strains (n=12) showed improved phage killing at acidic pHs (p < 0.05), with none showing the pattern of reduced efficacy at acidic pH demonstrated by tobramycin. Conclusion: The 4-phage anti-Pa cocktail tested against Pa performs well in pre-formed biofilms and in acidic environments; two conditions intended to mimic the CF lung. To our knowledge, these are the first data looking at the effects of subtle pH changes on phage-mediated bacterial killing in the context of Pa infection. These findings contribute to a growing body of evidence supporting the use of nebulised lytic bacteriophage as a treatment in the context of lung infection.
Digital Article Identifier (DAI):
1472
80261
Molecular Defects Underlying Genital Ambiguity in Egyptian Patients: A Systematic Review
Authors:
Abstract:
Disorders of Sex Development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. The DSD are relatively prevalent in Egypt. In spite of that, the relative rarity of the individual disease types or their molecular pathologies frequently resulted in reporting on single or few cases. This augmented the challenging nature of phenotype-genotype correlation in this disease group and its utilization in the management of such medical emergency. Through critical assessment of the published DSD reports, the current review aims at analyzing the clinical characteristics of the various DSD forms in relation to the underlying molecular pathologies. A systematic literature search was done in Pubmed, using relevant keywords (Egypt versus DSD, genital ambiguity or ambiguous genitalia, the old terms of 'intersex, hermaphroditism and pseudohermaphroditism', and a list of the DSD entities and their related genes). The search yielded 24 reports of molecular data in Egyptian patients presenting with ambiguous genitalia. However, only 21 publications fulfilled the criteria of inclusion of detailed clinical descriptions and definitive molecular diagnoses of individual patients. Curation of the data yielded a total of 53 cases that were ascertained from 40 families. Fifty-one patients present with ambiguous genitalia only while 2 had multiple congenital anomalies. Parental consanguinity was noted in 60% of cases. Sex of rearing at initial presentation was female in 75% and 60% in 46,XY and 46,XX DSD cases, respectively. The external genital phenotype in 2/3 of the 46,XY DSD cases showed moderate undermasculinization [Quigley scores 3 & 4] and 1/3 had severe presentations [scores 5 & 6]. For 46,XX subjects, 1 had severe virilization of the external genitalia while 8 had moderate phenotype. Hormonal data were inconclusive or contradictory to final diagnosis in a forth of cases. Collectively, 31 families [31/40, 77.5%] with 46,XY DSD had molecular defects in the genes, 5 alpha reductase 2 (SRD5A2) [12/31], 17 beta-hydroxysteroid dehydrogenase 3 [8/31], androgen receptor [7/31], Steroidogenic factor 1 [2/31], luteinizing hormone receptor [1/31], and fibroblast growth factor receptor 1 [1/31]. In a multiethnic study, 9 families afflicted with 46,XX DSD due to 11 beta hydroxylase (CYP11B1) deficiency were documented. Two recurrent mutations, G34R and N160D, in SRD5A2 were present, respectively, in 42 and 17% of cases. Similarly, 4 recurrent mutations resulted in 89% of the CYP11B1 presentations. In conclusion, this analysis highlights the importance of autosomal recessive inheritance and inbreeding among DSD presentations, the importance of founder effect in at least 2 disorders, the difficulties in relating the genotype with the indeterminate genital phenotype, the under-reporting of some DSD subtypes, and the notion that the reported mutational profiles among Egyptian DSD cases are relatively different from those reported in other ethnic groups.
Digital Article Identifier (DAI):