Search results for: rare disorders

Authors: Dixon, Lieh-Chi Su, Hsiao-Ling Yu, Ren-Yi Huang, Yung-Tan Lee

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The present paper analyzed the major, trace elements, rare earth elements of these Cenozoic basalts and combined with Sr-Nd isotopic compositions to discuss the petrogenesis of these basalts and the tectonic setting of the study area. Based on major, trace elements and fractional crystallization model we suggest that the basaltic magma has experienced olivine, clinopyroxene, and plagioclase fractionation during its evolution. Spidergrams and REE patterns reveal that Cenozoic basalts found in the Jiashan County, Anhui Province have geochemical characteristics similar to those of ocean island basalts(OIB) suggesting a derivation related to OIB-like mantle source. The slight positive Nb and Ti anomalies found in basaltic rocks of this study suggest the presence of Ti-bearing minerals in the mantle source and these Ti-bearing minerals had contributed to basaltic magma during partial melting, indicating a metasomatic event might have occurred before the partial melting. Based on 143Nd/144Nd vs. 87Sr/86Sr diagram we suggest that basalts of this study can be produced by MORB and EM-I components mixing and small degree of partial melting may be the major controlling factor during generation of basaltic magma. Some basaltic magma may be derived from partial melting of EM-Ⅰ heated by the upwelling asthenospheric mantle. The basalts fall within the WPB field in the discriminant plot of 2Nb-Zr/4-Y indicate that the volcanic activities in this region may be closely related to deep continental rifting process.

Keywords: geochemistry, cenozoic basalts, Anhui Province, Nushan Geopark, tectonic setting, fractionation

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Authors: Raghavi C. Janaswamy

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In the healthcare sector, heterogenous data elements such as patients, diagnosis, symptoms, conditions, observation text from physician notes, and prescriptions form the essentials of the Electronic Health Record (EHR). The data in the form of clear text and images are stored or processed in a relational format in most systems. However, the intrinsic structure restrictions and complex joins of relational databases limit the widespread utility. In this regard, the design and development of realistic mapping and deep connections as real-time objects offer unparallel advantages. Herein, a graph neural network-based classification of EHR data has been developed. The patient conditions have been predicted as a node classification task using a graph-based open source EHR data, Synthea Database, stored in Tigergraph. The Synthea DB dataset is leveraged due to its closer representation of the real-time data and being voluminous. The graph model is built from the EHR heterogeneous data using python modules, namely, pyTigerGraph to get nodes and edges from the Tigergraph database, PyTorch to tensorize the nodes and edges, PyTorch-Geometric (PyG) to train the Graph Neural Network (GNN) and adopt the self-supervised learning techniques with the AutoEncoders to generate the node embeddings and eventually perform the node classifications using the node embeddings. The model predicts patient conditions ranging from common to rare situations. The outcome is deemed to open up opportunities for data querying toward better predictions and accuracy.

Keywords: electronic health record, graph neural network, heterogeneous data, prediction

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Authors: J. Bernasovská, R. Lohajová Behulová, E. Petrejčiková, I. Boroňová, I. Bernasovský

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Y chromosome microdeletions are the most common genetic cause of male infertility and screening for these microdeletions in azoospermic or severely oligospermic men is now standard practice. Analysis of the Y chromosome in men with azoospermia or severe oligozoospermia has resulted in the identification of three regions in the euchromatic part of the long arm of the human Y chromosome (Yq11) that are frequently deleted in men with otherwise unexplained spermatogenic failure. PCR analysis of microdeletions in the AZFa, AZFb and AZFc regions of the human Y chromosome is an important screening tool. The aim of this study was to analyse the type of microdeletions in men with fertility disorders in Slovakia. We evaluated 227 patients with azoospermia and with normal karyotype. All patient samples were analyzed cytogenetically. For PCR amplification of sequence-tagged sites (STS) of the AZFa, AZFb and AZFc regions of the Y chromosome was used Devyser AZF set. Fluorescently labeled primers for all markers in one multiplex PCR reaction were used and for automated visualization and identification of the STS markers we used genetic analyzer ABi 3500xl (Life Technologies). We reported 13 cases of deletions in the AZF region 5,73%. Particular types of deletions were recorded in each region AZFa,b,c .The presence of microdeletions in the AZFc region was the most frequent. The study confirmed that percentage of microdeletions in the AZF region is low in Slovak azoospermic patients, but important from a prognostic view.

Keywords: AZF, male infertility, microdeletions, Y chromosome

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Authors: Chen Zhi-Wei, Hsieh Wei-Fang

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Taiwan annual rainfall is global average of 2.5 times, plus city excessive development, green constantly to reduced, instead of is big area of artificial base disc, makes Taiwan rainy season during occurred of storm cannot timely of emissions, led to flood constantly, and rain also cannot was retained again using, led to city hydrological balance suffered damage, and to Regulation city of by brings of negative effect, increased green covered rate became most effective of method, and city land limited, so roof green gradually became a alternative program. Green roofs have become one of the Central and local government policy initiatives for urban development, in foreign countries, such as the United States, and Japan, and Singapore etc. Development of roof greening as an important policy, has become a trend of the times. In recent years, many experts and scholars are also on the roof greening all aspects of research, mostly for green roof for the environmental impact of benefits, such as: carbon reduction, cooling, thermostat, but research on the benefits of green roofs under water cut but it is rare. Therefore, this research literature from green roof in to view and analyze what kind of medium suitable for roof greening and use of green base plate combination simulated green roof structure, via different proportions of the medium with water retention plate and drainage board, experiment with different planting base plate combination of water conservation performance. Research will want to test the effect of roof planting base mix, promotion of relevant departments and agencies in future implementation of green roofs, prompted the development of green roofs, which in the end Taiwan achieve sustainable development of the urban environment help.

Keywords: thin-layer roof greening and planting medium, water efficiency

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Authors: Amandeep Kaur, Manmeet Gill

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The climacteric is a wide phenomenon. Women of the entire world go through it at their own level. It’s a topic on which women hesitate to talk openly. It includes breast tenderness, uterine bleeding, arthralgia, hemorrhage, changes in emotional level such as facing depression, emotional breakdown, irritability and others. Other than such emotional breakdown nausea, vomiting, headache, gaining or losing weight is common problem associated with the climacteric disorder. The purpose of the present study is to assess the Climacteric disorders among women such as during menopause whatever a woman or girl faces mentally or physically. This is mainly done in women when they reached the age of 12 to 48 worldwide. For completing the study two objectives have been taken. The first objective of the study is to analyze the symptoms which lead to Climacteric among women such as Vaginal problems, Breast changes, Behavioral problems, Weight gain, Problems in the urinary tract etc. and the second Objective is to identify the variables which affect Climacteric these are Physical variables (lack of energy, joint soreness, stiffness, back pain etc.), Psychological variables (anxiety, poor memory, inability to concentrate) and Vasomotor variables (hormone estrogen fall, etc). The secondary source of method or data is used to deal with the theme of paper. Sometimes the word climacteric is interchanged with the term menopause and all these changes are high during the period of menopause among women.

Keywords: climacteric and their symposiums, disorder, reviews, in middle age

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Authors: Nita Nurlaila Kadarwaty

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Purpose: This study presents a rare case of bilateral Acute Primary Angle Closure Glaucoma (PACG). Method: A case report of a 64-year-old woman with a good outcome Acute PACG in both eyes who underwent phacotrabeculectomy surgery. Result: A 64-year-old woman complained of acute pain in both eyes, accompanied by decreased vision, photophobia, and seeing halos for three weeks. There was no history of trauma, steroid or other systemic drugs used, or intraocular surgery before. Ophthalmologic examination revealed a right eye (RE) visual acuity of 0.1, left eye (LE) 0.2. RE intraocular pressure (IOP) was 12 mmhg and LE: 36.4 mmHg in medication of timolol maleat ED and acetazolamide oral. Both eyes' anterior segments revealed mixed injection, corneal edema, shallow anterior chamber, posterior synechiae, mid-dilatation pupil with negative pupillary reflection, and cloudy lens without intumescent. There was a glaucomatous optic and closed iridocorneal angle on the gonioscopy. Initial treatments included oral acetazolamide and potassium aspartate 250 mg three times a day, timolol maleate ED 0.5% twice a day, and prednisolone acetate ED 1% four times a day. This patient underwent trabeculectomy, phacoemulsification, and implantation of IOL in both eyes. One week after the surgeries, both eyes showed decreased IOP and good visual improvement. Conclusion: Bilateral simultaneous Acute PACG is generally severe and results in a poor outcome. It causes rapidly progressive visual loss and is often irreversible. Phacotrabeculectomy has more benefits compared to only phacoemulsification for the intervention regarding the reduced IOP post-surgical.

Keywords: acute primary angle closure glaucoma, intraocular pressure, phacotrabeculectomy, glaucoma

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Authors: Sihao Lin

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Objectives: Infrared thermography (IRT) has been little documented in the objective measurement of ergonomic exposure. We aimed to examine the association between different ergonomic exposures and low back skin temperature measured by IRT. Methods: A total of 114 subjects among sedentary students, sports students and cleaning workers were selected as different ergonomic exposure levels. Low back skin temperature was measured by infrared thermography before and post ergonomic exposure. Ergonomic exposure was assessed by Quick Exposure Check (QEC) and quantitative scores were calculated on the low back. Multiple regressions were constructed to examine the possible associations between ergonomic risk exposures and the skin temperature over the low back. Results: Compared to the two student groups, clean workers had significantly higher ergonomic exposure scores on the low back. The low back temperature variations were different among the three groups. The temperature decreased significantly among students with ergonomic exposure (P < 0.01), while it increased among cleaning workers. With adjustment of confounding, the post-exposure temperature and the temperature changes after exposure showed a significantly negative association with ergonomic exposure scores. For maximum temperature, one increasing ergonomic score decreased -0.23◦C (95% CI -0.37, -0.10) of temperature after ergonomic exposure over the low back. Conclusion: There was a significant association between ergonomic exposures and infrared thermal temperature over low back. IRT could be used as an objective assessment of ergonomic exposure on the low back.

Keywords: ergonomic exposure, infrared thermography, musculoskeletal disorders, skin temperature, low back

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Authors: A. I. A. Rahman, Sh-Hussain Salleh, K. Ahmad, K. Anuar

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Analysis of vocal fold vibration is essential for understanding the mechanism of voice production and for improving clinical assessment of voice disorders. This paper presents a Dynamic Time Warping (DTW) based approach to analyze and objectively classify vocal fold vibration patterns. The proposed technique was designed and implemented on a Glottal Area Waveform (GAW) extracted from high-speed laryngeal images by delineating the glottal edges for each image frame. Feature extraction from the GAW was performed using Linear Predictive Coding (LPC). Several types of voice reference templates from simulations of clear, breathy, fry, pressed and hyperfunctional voice productions were used. The patterns of the reference templates were first verified using the analytical signal generated through Hilbert transformation of the GAW. Samples from normal speakers’ voice recordings were then used to evaluate and test the effectiveness of this approach. The classification of the voice patterns using the technique of LPC and DTW gave the accuracy of 81%.

Keywords: dynamic time warping, glottal area waveform, linear predictive coding, high-speed laryngeal images, Hilbert transform

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Authors: Fardis Teifoori, Mehdi Dehghani, Idoia Postigo, Jorge Martinez

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Introduction: Many skin disorders, such as atopic dermatitis (AD), is characterized by inflammation, infection, and hyperplasia. In this work, keratinocytes from AD patients are used to study the pomegranate seed oil properties for skin care. Material and methods: Isolated keratinocytes from patients with AD were cultured and stimulated by IL-9 (20 ng/ml) and TNF-α (50ng/ml) for 48h to induce vascular endothelial growth factor (VEGF) and Regulated upon activation, normal T cell expressed and secreted (RANTES) production, respectively, in the presence of different concentrations of pomegranate seed oil (20, 50, 100, and 200 µM). Finally, the concentrations of RANTES and VEGF in the cell culture supernatant were quantified according to the standard protocol of commercial ELISA kits. Results: The results indicated that pomegranate seed oil concentrations of 50, 100, and 200 µM could significantly inhibit the production of VEGF and RANTES by stimulating keratinocytes with IL-9 (20 ng/ml) and TNF-α (50ng/ml), respectively. The decrease in VEGF and RANTES concentration in the presence of the pomegranate seed oil concentrations of 20 and 50 uM was not significant. Conclusion: It was concluded that pomegranate seed oil (PSO) counteracts atopic dermatitis conditions dose-dependently: with the highest effect at the concentration of 200 µM. We suggest that the inexpensive and easily available pomegranate seed oil is a good candidate for cosmetics and clinical utilization for skin care.

Keywords: atopic dermatitis, pomegranate, Punica granatum, RANTES, VEGF

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Authors: S. A. Salau, I. F. Ayanda, I. Afe, M. O. Adesina, N. B. Nofiu

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Food insecurity is still a critical challenge among rural and urban households in Nigeria. The country’s food insecurity situation became more pronounced due to frequent conflict between pastoralist and crop farmers. Thus, this study assesses pastoralist-crop farmers’ conflict and food security of farming households in Kwara state, Nigeria. The specific objectives are to measure the food security status of the respondents, quantify pastoralist- crop farmers’ conflict, determine the effect of pastoralist- crop farmers conflict on food security and describe the effective coping strategies adopted by the respondents to reduce the effect of food insecurity. A combination of purposive and simple random sampling techniques will be used to select 250 farming households for the study. The analytical tools include descriptive statistics, Likert-scale, logistic regression, and food security index. Using the food security index approach, the percentage of households that were food secure and insecure will be known. Pastoralist- crop farmers’ conflict will be measured empirically by quantifying loses due to the conflict. The logistic regression will indicate if pastoralist- crop farmers’ conflict is a critical determinant of food security among farming households in the study area. The coping strategies employed by the respondents in cushioning the effects of food insecurity will also be revealed. Empirical studies on the effect of pastoralist- crop farmers’ conflict on food security are rare in the literature. This study will quantify conflict and reveal the direction as well as the extent of the relationship between conflict and food security. It could contribute to the identification and formulation of strategies for the minimization of conflict among pastoralist and crop farmers in an attempt to reduce food insecurity. Moreover, this study could serve as valuable reference material for future researches and open up new areas for further researches.

Keywords: agriculture, conflict, coping strategies, food security, logistic regression

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Authors: N. G. Vepkhvadze, T. Enukidze

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Anthrax is a fatal disease caused by strains of Bacillus anthracis, a spore-forming gram-positive bacillus that causes the disease anthrax in animals and humans. Anthrax is a zoonotic disease that is also well-recognized as a potential agent of bioterrorism. Infection in humans is extremely rare in the developed world and is generally due to contact with infected animals or contaminated animal products. Testing of this zoonotic disease began in 1907 in Georgia and is still being tested routinely to provide accurate information and efficient testing results at the State Laboratory of Agriculture of Georgia. Each clinical sample is analyzed by RT-PCR and bacteriology methods; this study used Real-Time PCR assays for the detection of B. anthracis that rely on plasmid-encoded targets with a chromosomal marker to correctly differentiate pathogenic strains from non-anthracis Bacillus species. During the period of 2015-2022, the State Laboratory of Agriculture (SLA) tested 250 clinical and environmental (soil) samples from several different regions in Georgia. In total, 61 out of the 250 samples were positive during this period. Based on the results, Anthrax cases are mostly present in Eastern Georgia, with a high density of the population of livestock, specifically in the regions of Kakheti and Kvemo Kartli. All laboratory activities are being performed in accordance with International Quality standards, adhering to biosafety and biosecurity rules by qualified and experienced personnel handling pathogenic agents. Laboratory testing plays the largest role in diagnosing animals with anthrax, which helps pertinent institutions to quickly confirm a diagnosis of anthrax and evaluate the epidemiological situation that generates important data for further responses.

Keywords: animal disease, baccilus anthracis, edp, laboratory molecular diagnostics

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Authors: C. Busuioc, S. I. Jinga, E. Pavel

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The continuous need of more non-volatile memories with a higher storage capacity, smaller dimensions and weight, as well as lower costs, has led to the exploration of optical lithography on active media, as well as patterned magnetic composites. In this context, optical lithography is a technique that can provide a significant decrease of the information bit size to the nanometric scale. However, there are some restrictions that arise from the need of breaking the optical diffraction limit. Major achievements have been obtained by employing a vitoceramic material as active medium and a laser beam operated at low power for the direct writing procedure. Thus, optical discs with ultra-high density were fabricated by a conventional melt-quenching method starting from analytical purity reagents. They were subsequently used for 3D recording based on their photosensitive features. Naturally, the next step consists in the elucidation of the composition and structure of the active centers, in correlation with the use of silver and rare-earth compounds for the synthesis of the optical supports. This has been accomplished by modern characterization methods, namely transmission electron microscopy coupled with selected area electron diffraction, scanning transmission electron microscopy and electron energy loss spectroscopy. The influence of laser diode parameters, silver concentration and fluorescent compounds formation on the writing process and final material properties was investigated. The results indicate performances in terms of capacity with two order of magnitude higher than other reported information storage systems. Moreover, the fluorescent photosensitive vitroceramics may be integrated in other applications which appeal to nanofabrication as the driving force in electronics and photonics fields.

Keywords: data storage, fluorescent compounds, laser writing, vitroceramics

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Authors: Ali Mahfouz

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Egypt's cultural heritage and artistic riches find themselves at a complex intersection of preservation and urban development, where they face intricate challenges exacerbated by climate change, pollution, urbanization, and construction activities. In this research, it delves into the multifaceted dynamics involved in conserving Egypt's heritage within urban contexts, spotlighting the historic Cairo cemetery as a poignant and timely case study. The historic Cairo cemetery serves as a repository of priceless cultural assets, housing the final resting places of public figures, artists, historians, politicians, and other luminaries. These graves are adorned with magnificent artworks and rare tombstones, collectively representing an irreplaceable slice of Egypt's history and culture. Yet, the looming threat of demolition to make way for new infrastructure projects underscores the delicate equilibrium that preservation efforts must maintain in the face of urban development pressures. This paper illuminates the collaborative efforts of historians, intellectuals, and civil society organizations who are determined to forestall the destruction of this invaluable cultural heritage. Their initiatives, driven by a shared commitment to documenting and safeguarding the cemetery's treasures, underscore the urgent imperative of protecting Egypt's cultural legacy. Through this case study, It gain insights into how Egypt navigates the challenges of preserving its rich heritage amidst urban expansion and a changing climate, emphasizing the broader importance of heritage conservation in an evolving world.

Keywords: Egypt’s cultural heritage, urban development, historic Cairo cemetery, tombstone artworks, demolition threat, heritage conservation, civil society initiatives

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Authors: Mansoor Aslamzai, Delaqa Del, Sayed Azam Sajid

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Introduction: Though moral disorders have a high burden, there is no separate topic regarding this problem in the International Classification of Diseases (ICD). Along with the modification of WHO ICD-11, spirituality can prevent the rapid progress of such derangement as well. Objective: This study evaluated the effects of bad moral characters on health, as well as carried out the role of spirituality in the improvement of immorality. Method: This narrative article review was accomplished in 2020-2021 and the articles were searched through the Web of Science, PubMed, BMC, and Google scholar. Results: Based on the current review, most experimental and observational studies revealed significant negative effects of unwell moral characters on the overall aspects of health and well-being. Nowadays, a lot of studies established the positive role of spirituality in the improvement of health and moral disorder. The studies concluded, facilities must be available within schools, universities, and communities for everyone to learn the knowledge of spirituality and improve their unwell moral character world. Conclusion: Considering the negative relationship between unwell moral characters and well-being, the current study proposes the addition of moral disorder as a separate topic in the WHO International Classification of Diseases. Based on this literature review, spirituality will improve moral disorder and establish excellent moral traits.

Keywords: bad moral characters, effect, health, spirituality and well-being

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Authors: A. M. Bumbea, A. Musetescu, P. Ciurea, A. Bighea

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Objectives: The authors present a Parsonage Turner syndrome, a rare disease characterized by onset in apparently healthy person with shoulder and/or arm pain, sensory deficit, motor deficit. The causes are not established, could be determinate by vaccination, postoperative, immunologic disease, post traumatic etc. Methods: The authors present a woman case, 32 years old, (in 2006), no medical history, with arm pain and no other symptom. The onset was sudden with pain at very high level quantified as 10 to a 0 to 10 scale, with no response to classical analgesic and corticoids. The only drugs which can reduce the intensity of pain were oxycodone hydrochloride, 60 mg daily and pregabalinum150 mg daily. After two weeks the intensity of pain was reduced to 5. The patient started a rehabilitation program. After 6 weeks the patient associated sensory and motor deficit. We performed electromyography for upper limb that showed incomplete denervation with reduced neural transmission speed. The patient receives neurotrophic drugs and painkillers for a long period and physical and kinetic therapy. After 6 months the pain was reduced to level 2 and the patient maintained only 150 mg pregabalinum for another 6 months. Then, the evaluation showed no pain but general amiotrophy in upper limb. Results: At the evaluation in 2009, the patient developed a rheumatoid syndrome with tender and swelling joints, but no positive inflammation test, no antibodies or rheumatoid factor. After two years, in 2011 the patient develops an increase of antinuclear antibodies. This context certifies the diagnosis of lupus and the patient receives the specific therapy. Conclusions: This case is not a typical case of onset of lupus with PTS, but the onset of PTS could include the onset of an immune disease.

Keywords: lupus, arm pain, patient, swelling

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Authors: Sujata Mukherjee, Arunavo Mukherjee

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Water covers 70 per cent of our planet; however, freshwater is incredibly rare, and scarce has been listed as the highest impact global risk. The problems related to freshwater scarcity multiplies with the human population having more than doubled coupled with climate change, changing water cycles leading to droughts and floods and a rise in water pollution. Businesses, governments, and local communities are constrained by water scarcity and are facing growing challenges to their growth and sustainability. Water foot printing as an indicator for water use was introduced in 2002. Business water footprint measures the total water consumed to produce the goods and services it provides. It is a combination of the water that goes into the production and manufacturing of a product or service and the water used throughout the supply chain, as well as during the use of the product. A case study approach was applied describing the efforts of Tata Steel. It is based on a series of semi-structured in-depth interviews with top executives of the company as well as observation and content analysis of internal and external documents about the company’s efforts in sustainable water management. Tata Steel draws water required for industrial use from surface water sources, primarily perennial rivers and streams, internal reservoirs and water from municipal sources. The focus of the present study was to explore Tata Steel’s engagement in sustainable water management focusing on water foot printing accounting as a tool to account for water use in the steel supply chain at its Jamshedpur plant. The findings enabled the researchers to conclude that no sources of water are adversely affected by the company’s production of steel at Jamshedpur.

Keywords: sustainability, corporate responsibility water management, risk management, business engagement

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Authors: Tabassum Yasmin, Hamid Pahlevan

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HIV/Hepatitis C co-infection treatments have evolved substantially and they have similar sustained virologic response rates as those of Hepatitis C monoinfected population. There are a few studies on therapy of patients with dual genotypes, especially in HIV/Hepatic C coinfected group. Most studies portrayed case reports of dual genotype chronic Hepatitis C coinfection treatment with Sofosbuvir/Ledipasvir and Ribavirin. A 79-year-old male with a history of HIV on Truvada and Isentress had chronic Hepatitis C with 1a and 2 genotypes. The patient has a history of alcohol intake for 40 years but recently stopped drinking alcohol. He has a history of intravenous drug use in the past and currently is not using any recreational drugs. Patient has Fibro score of 0.7 with Metavir score F2 to F4. AFP is 3.2. The HCV RNA is 493,034 IU/ML. The HBV viral DNA is < 1.30 (not detected). The CD4 is 687CU/MM. The FIB 4 is 3.34 with APRI index 0.717. The HIV viral load is 101 copies/ML. MRI abdomen did not show any liver abnormality. Fixed dose Sofosbuvir/Ledipasvir was used for therapy without Ribavirin. He tolerated medication except for some minor gastrointestinal side effects like abdominal bloating. He demonstrated 100% adherence rate. Patient completed 12 weeks of therapy. HCV RNA was undetectable at 4 and 12 weeks. He achieved SVR at week 12 and subsequently had undetectable RNA for 2 years. Dual genotype prevalence in chronic hepatitis C population is rare, especially in HIV/hepatic coinfection. Our case demonstrates that dual genotypic cases can still be successfully treated with Direct Acting Antiviral agents. The newer agents for therapy for pan genotypes were not available at the time the patient was being treated. We demonstrated that dual agent therapy was still able to maintain SVR in our patient.

Keywords: HIV/Hepatitis C, SVR (sustained virologic response), DAA (direct active antiviral agents, dual genotype

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Authors: Edeaghe Ehikhamenor, Jennifer Nnamdi

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Introduction: Gender-based violence (GBV) was a well-known global crisis before the COVID-19 pandemic. The pandemic burden only intensified the crisis. With prevailing lockdowns, increased poverty due to high unemployment, especially affecting females, and other mobility restrictions that have left many women trapped with their abusers, plus isolation from social contact and support networks, GBV cases spiraled out of control. Prevalence of economic with cultural disparity, which is greatly manifested in Nigeria, is a major contributory factor to GBV. This is made worst by religious adherents where the females are virtually relegated to the background. Our societal approaches to investigations and sanctions to culprits have not sufficiently applied forensic/DNA tools in combating these major vices. Violence against women or some rare cases against men can prevent them from carrying out their duties regardless of the position they hold. Objective: The main objective of this research is to highlight the origin of GBV, the victims, types, contributing factors, and the applications of forensics/DNA tools and remedies so as to minimize GBV in our society. Methods: Descriptive information was obtained through the search on our daily newspapers, electronic media, google scholar websites, other authors' observations and personal experiences, plus anecdotal reports. Results: Findings from our exploratory searches revealed a high incidence of GBV with very limited or no applications of Forensics/DNA tools as an intervening mechanism to reduce GBV in Nigeria. Conclusion: Nigeria needs to develop clear-cut policies on forensics/DNA tools in terms of institutional framework to develop a curriculum for the training of all stakeholders to fast-track justice for victims of GBV so as to serve as a deterrent to other culprits.

Keywords: gender-based violence, forensics, DNA, justice

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Authors: Megan E. Davies

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As substance use become an increasing prevalent occurrence amongst young people, prevention programs designed specifically for children and adolescents are required to protect against associated cognitive, psychological, and behavioural issues. Further, young people from marginalized backgrounds would highly benefit from culturally adapted substance use prevention programs. The first and second phase of the Life Skills Training (LST) program, the Maskwacis Life Skills Training (MLST) program, the Bii-Zin-Da-De-Da (BZDDD; “Listening to One Another”), and a culturally sensitive smoking prevention program, all of which have been adapted to Canadian Indigenous cultures and are applied within the school and family settings, are discussed. Additionally, comorbid disorders, at-risk personality types, and motivating factors associated with substance use amongst Canadian children and adolescents, specifically Indigenous youth, are explored through the application of a biopsychosocial model. Requital efforts being made in Canada towards Indigenous communities are described within a historical context, and substance use prevention programs targeting Indigenous children and adolescents are compared. Through this lens, suggestions are presented for future research on preventative interventions directed towards substance use within minority groups.

Keywords: early intervention, cultural appropriateness, life skills training, smoking prevention, drug and alcohol prevention

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Authors: Hamed Chavoshi Pour, Javad Sadeghinejad

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The spinal cord is a long structure that starts at the end of the medulla oblongata and is located within the vertebral canal. Physiologically, the spinal cord connects the brain with the peripheral nervous system for sensory and motor activities. The cervical spinal cord is an area of particular interest in medicine and veterinary medicine due to the high prevalence of diseases in this region. This study describes the morphometric features of the cervical spinal cord in rabbits using design-unbiased stereology. The cervical spinal cords of five male rabbits were dissected, and slabs were taken according to systematic uniform random sampling. Each slab was embedded in paraffin and cut into a 6-µm thick section, and stained with cresyl violet 0.1% for stereological estimations. The total spinal cord volume, volume fraction of grey and white matter, and also dorsal and ventral horns were estimated using point counting and Cavalieri's estimator. The total cervical spinal cord volume was 0.98 ± 0.07 cm³. The relative volume of white matter and grey matter was 70.6 ± 1.7% and 29.31 ± 1.67%, respectively. The dorsal horn and ventral horn volume were 13.86 ± 1.36% and 14.9 ± 0.62% of the whole cervical spinal cord. This knowledge of rabbit spinal cord findings may serve as a foundation for a translational model in spinal cord experimental research and provide basic findings for the diagnosis and treatment of spinal cord disorders.

Keywords: stereology, spinal cord, rabbit, cervical

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Authors: Camelia Porey, Binaya Kumar Jaiswal

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BACKGROUND: Antiphospholipid antibody (APLA) syndrome is an autoimmune disorder predisposing to thrombotic complications affecting CNS either by arterial vasooclusion or venous thrombosis. Cerebral venous sinus thrombosis (CVST) secondarily causes raised intracranial pressure (ICP). However, intracranial hypertension without evidence of CVST is a rare entity. Here we present two cases of elevated ICP with absence of identifiable CVST. CASE SUMMARY: Case 1, 28-year female had a 2 months history of holocranial headache followed by bilateral painless vision loss reaching lack of light perception over 20 days. CSF opening pressure was elevated. Fundoscopy showed bilateral grade 4 papilledema. MRI revealed a partially empty sella with bilateral optic nerve tortuosity. Idiopathic intracranial hypertension (IIH) was diagnosed. With acetazolamide, there was complete resolution of the clinical and radiological abnormalities. 5 months later she presented with acute onset right-sided hemiparesis. MRI was suggestive of acute left MCA infarct.MR venogram was normal. APLA came positive with high titres of Anticardiolipin and Beta 2 glycoprotein both IgG and IgM. Case 2, 23-year female, presented with headache and diplopia of 2 months duration. CSF pressure was elevated and Grade 3 papilledema was seen. MRI showed bilateral optic nerve hyperintensities with nerve head protrusion with normal MRV. APLA profile showed elevated beta 2 glycoprotein IgG and IgA. CONCLUSION: This is an important non thrombotic complication of APLA syndrome and requires further large-scale study for insight into the pathogenesis and early recognition to avoid future complications.

Keywords: APLA syndrome, idiopathic intracranial hypertension, MR venogram, papilledema

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Authors: Amy Halseth, Kevin Shan, Kye Gilder, John Buse

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The study assessed the effect of prolonged-release naltrexone 32 mg/bupropion 360 mg (NB) on cardiovascular (CV) events in overweight/obese participants at elevated CV risk. Participants must lose ≥ 2% body weight at 16 wks, without a sustained increase in blood pressure, to continue drug. The study was terminated early after second interim analysis with 50% of all CV events. Data on CV endpoints has been published. Current analyses focus on weight change. Intent-to-treat (ITT) population (placebo [PBO] N=4450, NB N=4455) was 54.5% female, 83.5% white, mean age 61 yrs, mean BMI 37.3 kg/m2; 85.2% had type 2 diabetes, 32.1% had CV disease, 17.4% had both. At 52 wks, ITT-LOCF analysis showed greater least squares mean percent change in weight (LSM%ΔBW) with NB (-3.1%; 95% CI -4.8, -1.4) vs PBO (-0.3%; 95% CI -1.9, 1.4). Both groups demonstrated greater weight loss while on-treatment (NB [-7.3%], PBO [-3.9%]). Odds ratios of 5% and 10% weight loss were 3.3 and 4.1 (ITT-LOCF), respectively, in NB over PBO. At 104 wks, on-treatment LSM%ΔBW was -6.3% with NB (n=1137) vs -3.5% with PBO (n=741). Major reasons for NB withdrawal were adverse events (AE, 29%) and patient decision (21%), with GI disorders being the most common. Weight loss with NB in this study, in an older population predominantly with diabetes and elevated CV risk, was somewhat lower than that observed in overweight/obese participants without diabetes and similar to participants with diabetes in Phase 3 studies.

Keywords: contrave, mysimba, obesity, pharmacotherapy, weight loss

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Authors: Maryam Khalili, Fateme Ghanei

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As one of the most significant phenomena of industrialized societies, tourism plays a key role in encouraging regional developments and enhancing higher standards of living for local communities in particular. Traveling is a formative experience endowed with lessons on various aspects of life. It allows us learning how to enhance the social position as well as the social relationships. However, people forget the need to travel and gain first-hand experiences as they have to cope with the ever-increasing rate of stress created by the disorders and routines of the urban dwelling style. In this paper, various spaces of such experiences were explored through a virtual tour with two underlying aims: 1) encouraging, informing, and educating the community in terms of tourism development, and 2) introducing a temporary release from the routines. This study enjoyed a practical-qualitative research methodology, and the required data were collected through observation and using a multiple-response questionnaire. The participants (19-48 years old) included 41 citizens of both genders (63.4% male and 36.6% female) from two regions in Tehran, selected by cluster-probability sampling. The results led to development of a spatial design for a virtual tour experience in Tehran where different areas are explored to both raise people’s awareness and educate them on their cultural heritage.

Keywords: ecotourism, education, gamification, social interaction, urban design, virtual tour

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Authors: Kristine Kalnica-Dorosenko, Aiga Svede

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Amblyopia or 'lazy eye' is impaired or dim vision without obvious defect or change in the eye. It is often associated with abnormal visual experience, most commonly strabismus, anisometropia or both, and form deprivation. The main task of amblyopia treatment is to ameliorate etiological factors to create a clear retinal image and, to ensure the participation of the amblyopic eye in the visual process. The treatment of amblyopia and eccentric fixation is usually associated with problems in the therapy. Eccentric fixation is present in around 44% of all patients with amblyopia and in 30% of patients with strabismic amblyopia. In Latvia, amblyopia is carefully treated in various clinics, but eccentricity diagnosis is relatively rare. Conflict which has developed relating to the relationship between the visual disorder and the degree of eccentric fixation in amblyopia should to be rethoughted, because it has an important bearing on the cause and treatment of amblyopia, and the role of the eccentric fixation in this case. Visuoscopy is the most frequently used method for determination of eccentric fixation. With traditional visuoscopy, a fixation target is projected onto the patient retina, and the examiner asks to look straight directly at the center of the target. An optometrist then observes the point on the macula used for fixation. This objective test provides clinicians with direct observation of the fixation point of the eye. It requires patients to voluntarily fixate the target and assumes the foveal reflex accurately demarcates the center of the foveal pit. In the end, by having a very simple method to evaluate fixation, it is possible to indirectly evaluate treatment improvement, as eccentric fixation is always associated with reduced visual acuity. So, one may expect that if eccentric fixation in amlyopic eye is found with visuoscopy, then visual acuity should be less than 1.0 (in decimal units). With occlusion or another amblyopia therapy, one would expect both visual acuity and fixation to improve simultaneously, that is fixation would become more central. Consequently, improvement in fixation pattern by treatment is an indirect measurement of improvement of visual acuity. Evaluation of eccentric fixation in the child may be helpful in identifying amblyopia in children prior to measurement of visual acuity. This is very important because the earlier amblyopia is diagnosed – the better the chance of improving visual acuity.

Keywords: amblyopia, eccentric fixation, visual acuity, visuoscopy

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Authors: Nodi Islam

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This paper critically reads Richard Powers’ novel The Echo Maker to read and understand the personal traumas of the characters in the novel depending on the various situations they face throughout the story. Also, the paper attempts to read different traumas and disorders due to their different situations. With a focus on the individual experiences, this paper addresses the core issues of trauma, which triggers their reactions and reads the novel through theories of Freud, Caruth, and other critics in this field. While transcending the boundary of personal and collective trauma, this paper suggests that traumas not only arise from the core mental issues, from both past or present memories; it also depends on places too which can be called, according to Yi-Fu Tuan, topophobia. Intimate places such as home provoke not only attachment and expectation but also produce fear in a person. Failure in identifying with such places means losing a central piece of identity of the individual. In order to analyse the traumas in the novel, the characters’ association with homes and places has been provided. This paper attempts to suggest that people are not traumatised because of what Freud explained as unpleasant memories of the past but also intimacy and lost identities related to a place can trigger trauma.

Keywords: spatial trauma, traumatic stress disorder, identity and place, core mental issues

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Authors: H. Merhni, A. Sbiti, I. Ratbi, A. Sefiani

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The proximal spinal muscular atrophy (SMA) is a group of neuromuscular disorders characterized by progressive muscle weakness due to the degeneration and loss of anterior motor neurons of the spinal cord. Depending on the age of onset of symptoms and their evolution, four types of SMA, varying in severity, result in a mutations of the SMN gene (survival of Motor neuron). We have analyzed the DNA of 295 patients referred to our genetic counseling; since January 1996 until October 2014; for suspected SMA. The homozygous deletion of exon 7 of the SMN gene was found in 133 patients; of which, 40.6% were born to consanguineous parents. In countries like Morocco, where the frequency of heterozygotes for SMA is high, genetic testing should be offered as first-line and, after careful clinical assessment, especially in newborns and infants with congenital hypotonia unexplained and prognosis compromise. The molecular diagnosis of SMA allows a quick and certainly diagnosis, provide adequate genetic counseling for families at risk and suggest, for couples who want prenatal diagnosis. The analysis of the SMN gene is a perfect example of genetic testing with an excellent cost/benefit ratio that can be of great interest in public health, especially in low-income countries. We emphasize in this work for the benefit of the generalization of molecular diagnosis of SMA by the technique of PCR-enzymatic digestion in other centers in Morocco.

Keywords: Exon7, PCR-digestion, SMA, SMN gene

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Authors: Mona Vijayaran, Gurleen Oberoi, Sanjay Mishra

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Introduction: p190 BCR‐ABL1 in CML is often associated with monocytosis. In the case described here, monocytosis is associated with coexisting p210 BCR‐ABL and CMML clones. Mutation analysis using next‐generation sequence (NGS) in our case showed TET2 and SRSF2 mutations. Aims & Objectives: A 75-year male was evaluated for monocytosis and thrombocytopenia. CBC showed Hb-11.8g/dl, TLC-12,060/cmm, Monocytes-35%, Platelets-39,000/cmm. Materials & Methods: Bone marrow examination showed a hypercellular marrow with myeloid series showing sequential maturation up to neutrophils with 30% monocytes. Immunophenotyping by flow cytometry from bone marrow had 3% blasts. Making chronic myelomonocytic leukemia as the likely diagnosis. NGS for myeloid mutation panel had TET2 (48.9%) and SRSF2 (32.5%) mutations. This report further supported the diagnosis of CMML. To fulfil the WHO diagnostic criteria for CMML, a BCR ABL1 by RQ-PCR was sent. The report came positive for p210 (B3A2, B2A2) Major Transcript (M-BCR) % IS of 38.418. Result: The patient was counselled regarding the unique presentation of the presence of 2 clones- P210 CML and CMML. After discussion with an international faculty with vast experience in CMML. It was decided to start this elderly gentleman on Imatinib 200mg and not on azacytidine, as ASXL1 was not present; hence, his chances of progressing to AML would be less and on the other end, if CML is left untreated then chances of progression to blast phase would always be a possibility. After 3 months on Imatinib his platelet count improved to 80,000 to 90,000/cmm, but his monocytosis persists. His 3rd month BCR-ABL1 IS% is 0.004%. Conclusion: After searching the literature, there were no case reports of a coexisting CML p210 with CMML. This case might be the first case report. p190 BCR ABL1 is often associated with monocytosis. There are few case reports of p210 BCR ABL1 positivity in patients with monocytosis but none with coexisting CMML. This case highlights the need for extensively evaluating patients with monocytosis with next-generation sequencing for myeloid mutation panel and BCR-ABL1 by RT-PCR to correctly diagnose and treat them.

Keywords: CMML, NGS, p190 CML, Imatinib

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Authors: Mohammad Ahangari

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Schizophrenia is a psychiatric disorder with symptoms that include cognitive deficits and nicotine has been suggested to have an effect on cognition. In recent years, the advents of Genome-Wide Association Studies(GWAS) has evolved our understanding about the genetic causes of complex disorders such as schizophrenia and studying the role of genome-wide significant genes could potentially lead to the development of new therapeutic agents for treatment of cognitive deficits in schizophrenia. The current study identified six Single Nucleotide Polymorphisms (SNP) from schizophrenia and smoking GWAS that are located on or in close proximity to the nicotinic receptor gene cluster (CHRN) and studied their association with cognition in an Irish sample of 1297 cases and controls using linear regression analysis. Further on, the interaction between CHRN gene cluster and Dopamine receptor D2 gene (DRD2) during working memory was investigated. The effect of these polymorphisms on nicotinic and dopaminergic neurotransmission, which is disrupted in schizophrenia, have been characterized in terms of their effects on memory, attention, social cognition and IQ as measured by a neuropsychological test battery and significant effects in two polymorphisms were found across global IQ domain of the test battery.

Keywords: cognition, dopamine, GWAS, nicotine, schizophrenia, SNPs

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Authors: Ami Fadhillah Amir Abdul Nasir, Amanda C. Niehaus, Skye F. Cameron, Frank A. Von Hippel, John Postlethwait​, Robbie S. Wilson

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For suicidal breeders, the physiological stresses and energetic costs of breeding are fatal. Environmental stressors such as pollution should compound these costs, yet suicidal breeding is so rare among mammals that this is unknown. Here, we explored the consequences of metal contamination to the health, aging and performance of endangered, suicidally-breeding northern quolls (Dasyurus hallucatus) living near an active manganese mine on Groote Eylandt, Northern Territory, Australia. We found respirable manganese dust at levels exceeding international recommendations even 20km from mining sites and substantial accumulation of manganese within quolls’ hair, testes, and in two brain regions—the neocortex and cerebellum, responsible for sensory perception and motor function, respectively. Though quolls did not differ in sprint speeds, motor skill, or manoeuvrability, those with higher accumulation of manganese crashed at lower speeds during manoeuvrability tests, indicating a potential effect on sight or cognition. Immune function and telomere length declined over the breeding season, as expected with ageing, but manganese contamination exacerbated immune declines and suppressed cortisol. Unexpectedly, male quolls with higher levels of manganese had longer telomeres, supporting evidence of unusual telomere dynamics among Dasyurids—though whether this affects their lifespan is unknown. We posit that sublethal contamination via pollution, mining, or urbanisation imposes physiological costs on wildlife that may diminish reproductive success or survival.

Keywords: ecotoxicology, heavy metal, manganese, telomere length, cortisol, locomotor

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Authors: Abdulrahman M. Alhowikan, Nadra E. Elamin, Sarah S. Aldayel, Sara A. AlSiddiqi, Fai S. Alrowais, Laila Y. Al-Ayadhi

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Background: A growing body of research has suggested that physical activities (PA) have important implications for improving the performance of ASD children. They revealed that the physiological, cognitive, psychological, and behavioral functioning had improved after performing some physical activities. Methods: We compared the sedentary behavior and physical activities between children with autism spectrum disorder (n=21) and age-matched control group (n=30), using the ActiGraph GT3X+ for the assessments. Results: Our results revealed that the total time spent in sedentary activity and the total sedentary activity counts were highly significant in the control group compared to the ASD group (p < 0.001, p=0.001, respectively). ASD spent a significantly longer time than the controls engaging on vigorous physical activity (VPA) (p=0.017). The results also indicated that there were no significant differences between both groups for the total counts and time spent in light physical activity (LPA) and moderate physical activity (MPA). Conclusion: The finding highlights the importance of physical activity intervention for ASD children, using accurate and precise measurement tools to record all activities.

Keywords: Autism spectrum disorders, motor skills, physical activity, ActiGraph GT3X+, moderate-to vigorous-intensity physical activity

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