Search results for: genetic disorder

Authors: Lokesh Bhatt, Jayesh Rathod

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Hypertension is one of the most prevalent cardiovascular disorder. It is responsible for several other cardiovascular disorders. Although many drugs are available for the treatment of hypertension, still a large population has uncontrolled blood pressure. Thus there is an unmet need for new therapeutic approaches for the same. Fruit juice of Citrus paradise contains several flavonoids with vasodilatory activity. We hypothesized that alcoholic extract of Citrus paradise, which contains flavonoids, might attenuate hypertension. The objective of the present study was to evaluate the antihypertensive activity of alcoholic extract of Citrus paradise fruit juice in rats. Hypertension was induced using one clip one kidney model in rats. The renal artery was occluded for 4 h after removal of one kidney. Once stabilized, the ganglionic blockade was performed followed by removal of the arterial clip from the kidney. Removal of clip resulted in an increase in blood pressure which is due to release of renin from the kidney. Alcoholic extract of Citrus paradise fruit juice was then administered at 50 mg/kg and 100 mg/kg dose by intravenous injection. Blood pressure was monitored continuously. Alcoholic extract of Citrus paradise fruit juice reduced hypertension in dose-dependent manner. Antihypertensive activity was found to be associated with vasodilation. The results of the present study showed antihypertensive potential of alcoholic extract of Citrus paradise fruit juice.

Keywords: citrus paradise, alcoholic extract, one clip one kidney model, vasodilation

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Authors: Ahmed A. Abd El Rahim, Andrew Anis Fakhrey Mosaad

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Background: An important psychological issue that has an impact on both mental and physical function is anxiety disorders. The general consensus is that aerobic exercise and physical activity are good for lowering anxiety and mood. Purpose: This study's goal was to look into how patients with anxiety disorders responded to aerobic exercise. Subjects: Anxiety disorders were identified in 30 individuals from the psychiatric hospital at Sohag University who were chosen based on inclusive criteria and had ages ranging from 25 to 45. Methods: Patients were split into two equal groups at random: For four weeks, three sessions per week, fifteen patients in group A (the study group), seven men and eight women, underwent medication therapy and aerobic exercise. Age (28.4 ± 2.11 years), weight (72.5 ± 10.06 kg), height (164.8 ± 9.64 cm), and BMI (26.65 ± 2.68 kg/m2) were all mean SD values. And in Group B (Control Group), only medication therapy was administered to 15 patients (9 males and 6 females). Age (29.6 ± 3.68), weight (75 ± 7.07 kg), height (166.9 ± 6.75) cm, and BMI (26.87 ± 1.11) kg/m2 were the mean SD values. Before and after the treatment, the Hamilton Anxiety Scale was used to gauge the patient's degree of anxiety. Results: Within the two groups, there were significant differences both before and after the treatment. Following therapy, there was a significant difference between the two groups; the study group displayed better improvement on the Hamilton Anxiety Scale. Conclusion: Patients with anxiety problems can benefit from aerobic activities and antianxiety drugs as effective treatments for lowering anxiety levels.

Keywords: aerobic exercises, anxiety disorders, antianxiety medications, Hamilton anxiety scale

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Authors: Shadab Shishegar, Sophie Duchesne, Genevieve Pelletier

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Sustainability as one of the key elements of Smart cities, can be realized by employing Real Time Control Strategies for city’s infrastructures. Nowadays Stormwater management systems play an important role in mitigating the impacts of urbanization on natural hydrological cycle. These systems can be managed in such a way that they meet the smart cities standards. In fact, there is a huge potential for sustainable management of urban stormwater and also its adaptability to global challenges like climate change. Hence, a dynamically managed system that can adapt itself to instability of the environmental conditions is desirable. A Global Predictive Real Time Control approach is proposed in this paper to optimize the performance of stormwater management basins in terms of flooding prevention. To do so, a mathematical optimization model is developed then solved using Genetic Algorithm (GA). Results show an improved performance at system-level for the stormwater basins in comparison to static strategy.

Keywords: environmental sustainability, optimization, real time control, storm water management

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Authors: Roseline Oghogho Osaseri, Osaseri E. I.

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Lassa fever is an epidemic hemorrhagic fever caused by the Lassa virus, an extremely virulent arena virus. This highly fatal disorder kills 10% to 50% of its victims, but those who survive its early stages usually recover and acquire immunity to secondary attacks. One of the major challenges in giving proper treatment is lack of fast and accurate diagnosis of the disease due to multiplicity of symptoms associated with the disease which could be similar to other clinical conditions and makes it difficult to diagnose early. This paper proposed an Adaptive Neuro Fuzzy Inference System (ANFIS) for the prediction of Lass Fever. In the design of the diagnostic system, four main attributes were considered as the input parameters and one output parameter for the system. The input parameters are Temperature on admission (TA), White Blood Count (WBC), Proteinuria (P) and Abdominal Pain (AP). Sixty-one percent of the datasets were used in training the system while fifty-nine used in testing. Experimental results from this study gave a reliable and accurate prediction of Lassa fever when compared with clinically confirmed cases. In this study, we have proposed Lassa fever diagnostic system to aid surgeons and medical healthcare practictionals in health care facilities who do not have ready access to Polymerase Chain Reaction (PCR) diagnosis to predict possible Lassa fever infection.

Keywords: anfis, lassa fever, medical diagnosis, soft computing

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Authors: Yoonjin Lee, Dongwook Hwang, Juhee Park, Woojin Park

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As undesirable sitting posture is known to be a major cause of musculoskeletal disorder of office workers, sitting has attracted attention on occupational health. However, there seems to be no consensus on what are safe and unsafe sitting behaviors. The purpose of this study was to characterize safe and unsafe behaviors based on scientific findings of sitting behavior. Three objectives were as follows; to identify different sitting behaviors measure used in ergonomics studies on safe sitting, for each measure identified, to find available findings or recommendations on safe and unsafe sitting behaviors along with relevant empirical grounds, and to synthesize the findings or recommendations to provide characterizations of safe and unsafe behaviors. A systematic review of electronic databases (Google Scholar, PubMed, Web of Science) was conducted for extensive search of sitting behavior. Key terms included awkward sitting position, sedentary sitting, dynamic sitting, sitting posture, sitting posture, and sitting biomechanics, etc. Each article was systemically abstracted to extract a list of studied sitting behaviors, measures used to study the sitting behavior, and presence of empirical evidence of safety of the sitting behaviors. Finally, characterization of safe and unsafe sitting behavior was conducted based on knowledge with empirical evidence. This characterization is expected to provide useful knowledge for evaluation of sitting behavior and about postures to be measured in development of sensing chair.

Keywords: sitting position, sitting biomechanics, sitting behavior, unsafe sitting

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Authors: Mudawamah Mudawamah, Muhammad Z. Fadli, Gatot Ciptadi, Aulanni’am

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Canary breeders have spread throughout Indonesian regions for the low-middle society and become an income source for them. The interesting phenomenon of the canary market is the feather colours become one of determining factor for the price. The advantages of this research were contributed to the molecular database as a base of selection and mating for the Indonesia canary breeder. The research method was experiment with the genome obtained from canary blood isolation. The genome did the PCR amplification with PMEL marker followed by sequencing. Canaries were used 24 heads of light and dark colour feathers. Research data analyses used BioEdit and Network 4.6.0.0 software. The results showed that all samples were amplification with PMEL gene with 500 bp fragment length. In base sequence of 40 was found Cytosine(C) in the light colour canaries, while the dark colour canaries was obtained Thymine (T) in same base sequence. Sequence results had 286-415 bp fragment and 10 haplotypes. The conclusions were the PMEL gene (gene of white pigment) was likely to be used PMEL gene to detect molecular genetic variation of dark and light colour feather.

Keywords: canary, haplotype, PMEL, sequence

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Authors: Jae Woong Sull

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Lipid levels are related to the risk of cardiovascular diseases. Cholesterol ester transfer protein (CETP) gene is one of the candidate genes of cardiovascular diseases. A total of 2,304 persons were chosen from a Hospital (N=4,294) in South Korea. Female subjects with the CG/GG genotype had a 2.03 -fold (p=0.0001) higher risk of having abnormal HDL cholesterol levels (<40 mg/dL) than subjects with the CC genotype. Male subjects with the CG/GG genotype had a 1.34 -fold (p=0.0019) higher risk than subjects with the CC genotype. When analyzed by body mass index, the association with CETP was much stronger in male subjects with BMI>=25.69 (OR=1.55, 95% CI: 1.15-2.07, P=0.0037) than in male lean subjects. When analyzed by family history of diabetes, the association with CETP was much stronger in male subjects with positive family history of low physical activity (OR=4.82, 95% CI: 1.86-12.5, P=0.0012) than in male subjects with negative family history of diabetes. This study clearly demonstrates that genetic variants in CETP influence HDL cholesterol levels in Korean adults.

Keywords: CETP, diabetes, obesity, polymorphisms

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Authors: Kassahun Tadesse, Megersa O. Dinka

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Drinking water suitability study was conducted for a milky-white stream in remote areas of Ethiopia in order to understand its effect on human health. Water samples were taken from the water source and physicochemical properties were analyzed based on standard methods. The mean values of pH, total dissolved solids, sodium, magnesium, potassium, manganese, chloride, boron, and fluoride were within maximum permissible limits set for health. Whereas turbidity, calcium, irons, hardness, alkalinity, nitrate, and sulfate contents were above the limits. The water is very hard water due to high calcium content. High sulfate content can cause noticeable taste and a laxative (gastrointestinal) effect. The nitrate content was very high and can cause methemoglobinemia (blue baby syndrome) which is a temporary blood disorder in the bottle fed infants. Hence, parents should be advised not to give this water to infants. In conclusion, all physicochemical parameters except for nitrate are safe for health but may affect the appearance and taste, and wear water infrastructures. A high value of turbidity due to suspended minerals is the cause for milky-white colour. However, a mineralogical analysis of suspended sediments is required to identify the exact cause for white colour, and a study on sediment source was recommended.

Keywords: hard water, laxative effect, methemoglobinemia, nitrate, physicochemical, water quality

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Authors: Carlos Theran, Yohn Parra Bautista, Victor Adankai, Richard Alo, Jimwi Liu, Clement G. Yedjou

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Alzheimer's disease (AD) is a neurodegenerative disorder primarily characterized by deteriorating cognitive functions. AD has gained relevant attention in the last decade. An estimated 24 million people worldwide suffered from this disease by 2011. In 2016 an estimated 40 million were diagnosed with AD, and for 2050 is expected to reach 131 million people affected by AD. Therefore, detecting and confirming AD at its different stages is a priority for medical practices to provide adequate and accurate treatments. Recently, Machine Learning (ML) models have been used to study AD's stages handling missing values in multiclass, focusing on the delineation of Early Mild Cognitive Impairment (EMCI), Late Mild Cognitive Impairment (LMCI), and normal cognitive (CN). But, to our best knowledge, robust performance information of these models and the missing data analysis has not been presented in the literature. In this paper, we propose studying the performance of five different machine learning models for AD's stages multiclass prediction in terms of accuracy, precision, and F1-score. Also, the analysis of three imputation methods to handle the missing value problem is presented. A framework that integrates ML model for AD's stages multiclass prediction is proposed, performing an average accuracy of 84%.

Keywords: alzheimer's disease, missing value, machine learning, performance evaluation

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Authors: Rawan Aljabbari, Thamer Alomayri, Faisal G. Al-Maqate, Abeer Al Suwat

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For environmentally friendly innovative technologies and a sustainable future, fly ash/TiO₂ thin film nanocomposites are essential. Fly ash will be doped with titanium dioxide in this work in order to better understand its optical characteristics and employ it in semiconductor electrical devices. This study focused on the structure, morphology, and optical properties of fly ash/TiO₂ thin films. The spin-coating technique was used to create thin coatings of fly ash/TiO₂. For the first time, the doping of TiO₂ in the fly ash host at ratios of 1, 2, and 3 wt% was investigated with the thickness of all samples fixed. When compared to undoped thin films, the surface morphology of the doped thin films was improved. The weakly crystalline structure of the doped fly ash films was verified by XRD. The optical bandgap energy of these films was successfully reduced by the TiO₂ doping, going from 3.9 to 3.5 eV. With increasing dopant concentration, the value of Urbach energy is increasing. The optical band gap is clearly in opposition to the disorder. While it considerably improved the optical conductivity to a value of 4.1 x 10^9 s^(-1), it also raised the refractive index and extinction coefficient. Depending on the TiO₂ doping ratio, the transmittance decreased, and the reflection increased. As the TiO₂ concentration rises, the absorption of photon energy rises, and the absorption coefficient of photon energy is reduced. results in their possible use as solar energy and semiconductor materials.

Keywords: fly ash, structural analysis, optical properties, morphology

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Authors: Farrin Nayebzadeh, Mohammadreza Eslami Amirabadi

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According to technological progress and urban development, the cities of the world are growing to become metropolitans, living in which can be enthusiastic, entertaining and accessibility to the facilities like education, economic factors, hygiene and welfare is high. On the other hand, there are some problems that have been ignored in planning for such high quality of life, most important of which, is human health. Two aspects of human health are physical health and mental health, that are closely associated. Human mental health depends on two important factors: Biological factor and environmental factor. Air pollution is one of the most important environmental risk factors that affects mental health. Psychological and toxic effects of air pollution can lead to psychiatric symptoms, including anxiety and changes in mood, cognition, and behavior, depression and also children's mental disorders like hyperactivity, aggression and agitation. Increased levels of some air pollutants are accompanied by an increase in psychiatric admissions and emergency calls and, in some studies, by changes in behavior and a reduction in psychological well-being. Numerous toxic pollutants interfere with the development and adult functioning of the nervous system. Psychosocial stress can cause symptoms similar to those of organic mental disorders. These factors can cause resonance of psychiatric disorders. So, in cities of developing countries, people challenge with mental health problems due to environmental factors especially air pollution that have not been forecasted in urban planning.

Keywords: air pollution, environmental factors, mental health, psychiatric disorder

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Authors: Rouhollah Radjabi, Mojtaba Zarei, Elham Sanatgar, Hossein Shouhani

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RAPD molecular markers in order to discrimination of the Iranian native Bombyx mori silkworm breeds were used. DNA extraction using phenol - chloroform was and the qualitative and quantitative measurements of extracted DNA and its dilution, the obtained bands on agarose gel 1.5 percent were marked and analyzed. Results showed that the bands are observed between 250-2500 bp and most bands have been observed as Gilani-orange, the lowest bands observed are Khorasani-lemon. Primer 3 with 100% polymorphism with the highest polymorphism and primer 2 with 61.5 polymorphism had the lowest percentage of polymorphism. Cluster analysis of races and placed them in three main groups, races Gilani - orange, Baghdad and Khorasani -pink if the first group, camel's thorn, Herati - yellow race was alone in the second group and Khorasani – lemon was alone in the third group. The greatest similarity between the races, between Khorasani- pink and Baghdad (0.64). RAPD markers have been determined different silkworm races based on various morphological or economic characteristics except geographic origin.

Keywords: silkworm, molecular marker, RAPD, Iran

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Authors: Rudinë Fetahaj, Flaka Isufi, Kristina Hansson

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While evidence shows that in most European countries’ multilingualism is rising, unfortunately, the focus of Speech and Language Therapy (SLT) is still monolingualism. Furthermore, there is sparse information on how the needs of multilingual children with language disorders such as Developmental Language Disorder (DLD) are being met and which factors affect the intervention approach of SLTs when treating DLD. This study aims to examine the relationship and correlation between the number of languages SLTs speak, years of experience, and length of education with the advice they give to parents of multilingual children with DLD regarding which language to be spoken. This is a cross-sectional study where a survey was completed online by 2608 SLTs across Europe and data has been used from a 2017 COST-action project. IBM-SPSS-28 was used where descriptive analysis, correlation and Kruskal-Wallis test were performed.SLTs mainly advise the parents of multilingual children with DLD to speak their native language at home. Besides years of experience, language status and the level of education showed to have no association with the type of advice SLTs give. Results showed a non-significant moderate positive correlation between SLTs years of experience and their advice regarding the native language, whereas language status and length of education showed no correlation with the advice SLTs give to parents.

Keywords: quantitative study, developmental language disorders, multilingualism, speech and language therapy, children, European context

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Authors: Musarat Ishaq, Tara Karnezis, Ramin Shayan

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Lipedema, a poorly understood chronic disease of adipose hyper-deposition, is often mistaken for obesity and causes significant impairment to mobility and quality-of-life. To identify molecular mechanisms underpinning lipedema, we employed comprehensive omics-based comparative analyses of whole tissue, adipocyte precursors (adipose-derived stem cells (ADSCs)), and adipocytes from patients with or without lipedema. Transcriptional profiling revealed significant differences in lipedema tissue, adipocytes, and ADSCs, with altered levels of mRNAs involved inproliferation and cell adhesion. One highly up-regulated gene in lipedema adipose tissue, adipocytes and ADSCs, ZIC4, encodes Zinc Finger Protein ZIC 4, a class of transcription factor which may be involved in regulating metabolism and adipogenesis. ZIC4 inhibition impaired the adipogenesis of ADSCs into mature adipocytes. Epigenetic regulation study revealed overexpression of ZIC4 is involved in decreased promoter DNA methylation and subsequent decrease in adipogenesis. These epigenetic modifications can alter adipocytes microenvironment and adipocytes differentiation. Our study show that epigenetic events regulate the ability of ADSCs to commit and differentiate into mature adipocytes by modulating ZIC4.

Keywords: lipedema, adipose-derived stem cells, adipose tisue, adipocytes, zinc finger protein, epigenetic

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Authors: Malik Takreem Ahmad, Pablo Lamata, Rasi Mizori

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Background: In recent years, mobile health apps have grown in popularity as a means for people to track and manage their health. While there is increasing worry that these applications may potentially contribute to the emergence of health anxiety, they can also help to encourage healthy behaviours and provide access to health information. Objective: The objective of this literature review is to look at available mhealth apps and critically evaluate the compromise between reassurance and anxiety. Methodology: A literature review was carried out to analyse the effects of mhealth apps on the creation of health anxiety within the general population. PubMed and SCOPUS were used to search for relevant articles, and abstracts were screened using inclusion criteria of the terms: mhealth apps; e-Health; healthcare apps; cyberchondria; Health anxiety; illness anxiety disorder. A total of 27 studies were included in the review. Results and discussion: The findings suggest a direct relationship between mobile health app use and health anxiety. The impact of mobile health apps on health anxiety may depend on how they are used - individuals receiving a constant stream of health-related information may trigger unnecessary concern about one's health. The need for more regulation and oversight is identified, which can lead to app quality and safety consistency. There are also concerns about data security and privacy and the resulting "digital gap" for individuals without mobiles or internet access. Conclusion: While health apps can be valuable tools for managing and tracking health, individuals need to use them in a balanced and informed way to avoid increased anxiety.

Keywords: mobile health, mhealth apps, cyberchondria, health anxiety

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Authors: Ashish Kumar Agrahari, Amit Kumar

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Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired clonal blood disorder that manifests with hemolytic anemia, thrombosis, and peripheral blood cytopenias. The disease is caused by the deficiency of two glycosylphosphatidylinositols (GPI)-anchored proteins (CD55 and CD59) in the hemopoietic stem cells. The deficiency of GPI-anchored proteins has been associated with the somatic mutations in phosphatidylinositol glycan class A (PIGA). However, the mutations that do not cause PNH is associated with the multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2). To best of our knowledge, no computational study has been performed to explore the atomistic level impact of PIGA mutations on the structure and dynamics of the protein. In the current work, we are mainly interested to get insights into the molecular mechanism of PIGA mutations. In the initial step, we screened the most pathogenic mutations from the pool of publicly available mutations. Further, to get a better understanding, pathogenic mutations were mapped to the modeled structure and subjected to 50ns molecular dynamics simulation. Our computational study suggests that four mutations are highly vulnerable to altering the structural conformation and stability of the PIGA protein, which illustrates its association with PNH and MCAHS2 phenotype.

Keywords: homology modeling, molecular dynamics simulation, missense mutations PNH, MCAHS2, PIGA

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Authors: Vijay Khopkar, Balaram Sahoo

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Material with high value of dielectric constant has application in the electronics devices. Existing lead based materials have issues such as toxicity and problem with synthesis procedure. Double perovskite structured barium iron niobate (BaFe0.5Nb0.5O3, BFN) is the lead-free material, showing a high value of dielectric constant. Origin of high value of the dielectric constant in BFN is not clear. We studied the dielectric behavior of polycrystalline BFN sample over wide temperature and frequency range. A BFN sample synthesis by conventional solid states reaction method and phase pure dens pellet was used for dielectric study. The SEM and TEM study shows the presence of grain and grain boundary region. The dielectric measurement was done between frequency range of 40 Hz to 5 MHz and temperature between 20 K to 500 K. At 500 K temperature and lower frequency, there observed high value of dielectric constant which decreases with increase in frequency. The dipolar relaxation follows non-Debye type polarization with relaxation straight of 3560 at room temperature (300 K). Activation energy calculated from the dielectric and modulus formalism found to be 17.26 meV and 2.74 meV corresponds to the energy required for the motion of Fe3+ and Nb5+ ions within the oxygen octahedra. Our study shows that BFN is the order disorder type ferroelectric material.

Keywords: barium iron niobate, dielectric, ferroelectric, non-Debye

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Authors: Sahra Setorg

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The purpose of this study was to determine the effect of meta-cognitive therapy on meta-cognitive defects and emotional regulation in industrial substance dependence patients. This quasi-experimental research was conducted with post-test and two-month follow-up design with control and experimental groups. The statistical population consisted of all industrial Substance dependence patients refer to addictive withdrawal clinics in Esfahan city, in Iran in 2013. 45 patients were selected from three clinics through the convenience sampling method and were randomly divided into two experimental groups (15 crack dependences, 15 amphetamine dependences) and one control group (n=15). The meta-cognitive questionnaire (MCQ) and difficulties in emotional regulation questionnaire (DERS) were used as pre-test measures and the experimental groups (crack and amphetamine) received 8 MC therapy sessions in groups. The data were analyzed via multivariate covariance statistic method by spss-18. The results showed that MCT had a significant effect in improving the meta-cognitive defects in crack and amphetamine dependences. Also, this therapy can increase the emotional regulation in both groups (p<0/05).The effect of this therapy is confirmed in two months followup. According to these findings, met-cognitive is as an interface and important variable in prevention, control, and treatment of the new industrial substance dependences.

Keywords: meta-cognitive therapy, meta-cognitive defects, emotional regulation, substance dependence disorder

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Authors: Mehravar Javid

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This case study delves into the psychological complexities of a 33-year-old woman, the second of three children, whose upbringing under a critical mother and a high-expectation father has significantly shaped her psychological landscape. Exhibiting a blend of worthlessness and a grandiose self, her life is a constant struggle between idealizing her father and devaluing her mother and sisters, coupled with a fear of intimacy and a desire for merger. This internal conflict manifests in symptoms of depression, anxiety, and a pattern of forming and quitting multiple relationships, all driven by a deep-seated need for validation and approval. The therapeutic journey reveals her resistance to treatment, particularly when her defense mechanisms are challenged, reflecting a complex transference dynamic where she yearns for merger yet fears it. The treatment focuses on empathetically addressing her idealization and mirroring needs, allowing for autonomy while repairing communication gaps. This approach not only confronts her emotional deficits rooted in her family dynamics but also aids in her quest for self-identity, navigating through her feelings of emptiness, inferiority, and powerlessness. The study highlights the nuanced interplay of family influence on the development and maintenance of narcissistic traits, offering insights into the therapeutic strategies that can facilitate growth and self-awareness in similar cases.

Keywords: narcissistic personality disorder, merger transference, treatment interruption, case study, family dynamics

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Authors: Parvin Farzanegi

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Background: Diabetes is a metabolic disorder associated with increased free radicals and oxidative stress. The evidence indicates that physical inactivity is a modifiable behavioral risk factor for a wide range of chronic disorders such as diabetes mellitus. We investigated the effects of eight-week aerobic exercise on some antioxidant enzyme activities in postmenopausal women with type 2 diabetes mellitus (T2DM). Methods: sixteen sedentary postmenopausal women with T2DM were randomly assigned to the control (n=8; CG) and exercise group (n=8; EG). The exercise consisted of progressive aerobic training at a moderate intensity (50-70% of the maximum heart rate), for 25-60 min/day, and 3 days/week for 8 weeks. Age, sex, and body mass index were similar in the two groups. Antioxidant status was evaluated by measuring the superoxide dismutase (SOD) and catalase (CAT) activity. Also levels of malondialdehyde (MDA) as an index of lipid peroxidation and glucose in the plasma were measured before and after the intervention. Results: Following the 8 weeks of exercise training, the plasma MDA and glucose levels were significantly reduced in EG compared to CG (P=0.001 and P=0.011 respectively). However, SOD (P=0.017) and CAT (P=0.011) activities were increased in EG compared to CG. Conclusion: The present study suggests regular aerobic exercise appears can exert protective effects against oxidative stress due to its ability to increase antioxidant defense and glucose control in postmenopausal women with T2DM.

Keywords: aerobic exercise, antioxidant, diabetes mellitus, type 2

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Authors: Rim Sghiri, Samia Al Shouli, Hana Benhassine, Nejla Elamri, Zahid Shakoor, Foued Slama, Adel Almogren, Hala Zeglaoui, Elyes Bouajina, Ramzi Zemni

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Objectives: Little is known about genes predisposing to systemic bone loss (SBL) in rheumatoid arthritis (RA). Therefore, we examined the association between SBL and a variant of CD40 gene, which is known to play a critical role in both immune response and bone homeostasis among patients with RA. Methods: CD40 rs48104850 was genotyped in 176 adult RA patients. Bone mineral density (BMD) was measured using dual-energy X-ray absorptiometry (DXA). Results: Low BMD was observed in 116 (65.9%) patients. Among them, 60 (34.1%) had low femoral neck (FN) Z score, 72 (40.9%) had low total femur (TF) Z score, and 105 (59.6%) had low lumbar spine (LS) Z score. CD40 rs4810485 was found to be associated with reduced TF Z score with the CD40 rs4810485 T allele protecting against reduced TF Z score (OR = 0.40, 95% CI = 0.23-0.68, p = 0.0005). This association was confirmed in the multivariate logistic regression analysis (OR=0.31, 95% CI= 0.16-0.59, p=3.84 x 10₋₄). Moreover, median FN BMD was reduced among RA patients with CD40 rs4810485 GG genotype compared to RA patients harbouring CD40 rs4810485 TT and GT genotypes (0.788± 0.136 versus 0.826± 0.146g/cm², p=0.001). Conclusion: This study, for the first time ever, demonstrated an association between a CD40 genetic variant and SBL among patients with RA.

Keywords: rheumatoid arthritis, CD40 gene, bone mineral density, systemic bone loss, rs48104850

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Authors: Safa Abusara Mohammed Ali, Mohammed Khair Abdallah, Gurdon A. Brockmann, M. Reissmann

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The aim of the study was the characterization of DGAT1 variants in Sudanese dairy cattle breeds. In this study, we examined 94 Kenana and 91 Butana dairy cattle from two regions of Sudan. We genotyped the DGAT1 sequence variant AJ318490.1:g.10433/10434 AA>GC that leads to the Lysine – Alanine substitution at position 232 (K232A) in the protein and the VNTR polymorphism in the promoter region. Genotyping was performed by allele specific PCR and PCR fragment lengths determination, respectively. In both breeds, the DGAT1 Lysine variant (232K) that is associated with high fat and protein content as well as high fat yield in other breeds is the high frequent allele. The frequencies of the 232K allele were 96.3% and 84.6% in Kenana and Butana breeds, respectively. At the DGAT1 promoter VNTR locus, four alleles containing four to seven repeats of the 18 bp motif were found in both breeds. The highest frequent allele was the VNTR allele 3 containing five repeats with 60.4 % and 57.5 % in Kenana and Butana breeds, respectively. In conclusion, the two examined Sudanese dairy cattle breeds do not differ in allele frequencies at the DGAT1 locus.

Keywords: dairy cattle, DGAT1, Kenana, Butana.

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Authors: Meryem Abi-Ayad, Biagio Arcidiacono, Eusebio Chiefari, Daniela Foti, Mohamed Benyoucef, Antonio Brunetti

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Lipoprotein Lipase (LPL) is a key enzyme for lipid metabolism; its genetic polymorphism can be a candidate for modulating lipids parameters in metabolic syndrome. The objective of the present study was to determine whether lipoproteins lipase polymorphisMetS (LPL-HindIII) could be associated with moderate hypertriglyceridemia (secondary to metabolism syndrome). The polymorphism Hind III (rs320) was assessed by PCR-RFLP in 51 MetS patients and 17 healthy controls from the hospital in Tlemcen. The logistic regression analyses showed no significant association with Hind III genotype and hypertriglyceridemia (TG ≥ 1,5g/l or TG lower treatment) (P=0,455), metabolic syndrome (P=0,455), hypertension (P=0,802) and type 2 diabetes (P=0,144). In terms of plasma biomarkers, although not statistically significant, there was a difference in TG levels (P > 0,05), which was lowest among carriers of the homogenous mutant allele (H-). In this study, there was no association between the rare allele (H-) and disease protection, and between the frequent allele (H+) and disease prevalence (hypertriglyceridemia, metabolic syndrome, hypertension, type 2 diabetes).

Keywords: moderate secondary hypertriglyceridemia, metabolic syndrome, lipids, polymorphism lipoprotein lipase, HindIII(rs320)

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Authors: Ibrahim Ilker Ozyigit, Ertugrul Filiz, Ilhan Dogan

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An in silico analysis of Brachypodium distachyon, Triticum aestivum, Festuca arundinacea, Lolium perenne, Hordeum vulgare subsp. vulgare of the Pooideaea was performed based on complete chloroplast genomes including rbcL coding and trnH-psbA intergenic spacer regions alone to compare phylogenetic resolving power. Neighbor-joining, Minimum Evolution, and Unweighted Pair Group Method with arithmetic mean methods were used to reconstruct phylogenies with the highest bootstrap supported the obtained data from whole chloroplast genome sequence. The highest and lowest values from nucleotide diversity (π) analysis were found to be 0.315813 and 0.043495 in rbcL coding region in chloroplast genome and complete chloroplast genome, respectively. The highest transition/transversion bias (R) value was recorded as 1.384 in complete chloroplast genomes. F. arudinacea-L. perenne clade was uncovered in all phylogenies. Sequences of rbcL and trnH-psbA regions were not able to resolve the Pooideae phylogenies due to lack of genetic variation.

Keywords: chloroplast DNA, Pooideae, phylogenetic analysis, rbcL, trnH-psbA

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Authors: Anushka Naidoo, Veron Ramsuran, Maxwell Chirehwa, Paolo Denti, Kogieleum Naidoo, Helen McIlleron, Nonhlanhla Yende-Zuma, Ravesh Singh, Sinaye Ngcapu, Nesri Padayatachi

Abstract:

Background: Despite efforts to introduce new drugs and shorter drug regimens for drug-susceptible tuberculosis (TB), the standard first-line treatment has not changed in over 50 years. Rifampicin, isoniazid, and pyrazinamide are critical components of the current standard treatment regimens. Some studies suggest that microbiologic failure and acquired drug resistance are primarily driven by low drug concentrations that result from pharmacokinetic (PK) variability independent of adherence to treatment. Wide between-patient pharmacokinetic variability for rifampin, isoniazid, and pyrazinamide has been reported in prior studies. There may be several reasons for this variability. However, genetic variability in genes coding for drug metabolizing and transporter enzymes have been shown to be a contributing factor for variable tuberculosis drug exposures. Objective: We describe the pharmacokinetics of first-line TB drugs rifampicin, isoniazid, and pyrazinamide and assess the effect of genetic variability in relevant selected drug metabolizing and transporter enzymes on pharmacokinetic parameters of isoniazid and rifampicin. Methods: We conducted the randomized-controlled Improving retreatment success TB trial in Durban, South Africa. The drug regimen included rifampicin, isoniazid, and pyrazinamide. Drug concentrations were measured in plasma, and concentration-time data were analysed using nonlinear-mixed-effects models to quantify the effects of relevant covariates and single nucleotide polymorphisms (SNP’s) of drug metabolizing and transporter genes on rifampicin, isoniazid and pyrazinamide exposure. A total of 25 SNP’s: four NAT2 (used to determine acetylator status), four SLCO1B1, three Pregnane X receptor (NR1), six ABCB1 and eight UGT1A, were selected for analysis in this study. Genotypes were determined for each of the SNP’s using a TaqMan® Genotyping OpenArray™. Results: Among fifty-eight patients studied; 41 (70.7%) were male, 97% black African, 42 (72.4%) HIV co-infected and 40 (95%) on efavirenz-based ART. Median weight, fat-free mass (FFM), and age at baseline were 56.9 kg (interquartile range, IQR: 51.1-65.2), 46.8 kg (IQR: 42.5-50.3) and 37 years (IQR: 31-42), respectively. The pharmacokinetics of rifampicin and pyrazinamide was best described using one-compartment models with first-order absorption and elimination, while for isoniazid two-compartment disposition was used. The median (interquartile range: IQR) AUC (h·mg/L) and Cmax (mg/L) for rifampicin, isoniazid, and pyrazinamide were; 25.62 (23.01-28.53) and 4.85 (4.36-5.40), 10.62 (9.20-12.25) and 2.79 (2.61-2.97), 345.74 (312.03-383.10) and 28.06 (25.01-31.52), respectively. Eighteen percent of patients were classified as rapid acetylators, and 34% and 43% as slow and intermediate acetylators, respectively. Rapid and intermediate acetylator status based on NAT 2 genotype resulted in 2.3 and 1.6 times higher isoniazid clearance than slow acetylators. We found no effects of the SLCO1B1 genotypes on rifampicin pharmacokinetics. Conclusion: Plasma concentrations of rifampicin, isoniazid, and pyrazinamide were low overall in our patients. Isoniazid clearance was high overall and as expected higher in rapid and intermediate acetylators resulting in lower drug exposures. In contrast to reports from previous South African or Ugandan studies, we did not find any effects of the SLCO1B1 or other genotypes tested on rifampicin PK. However, our findings are in keeping with more recent studies from Malawi and India emphasizing the need for geographically diverse and adequately powered studies. The clinical relevance of the low tuberculosis drug concentrations warrants further investigation.

Keywords: rifampicin, isoniazid pharmacokinetics, genetics, NAT2, SLCO1B1, tuberculosis

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Authors: Naila Tallas Mahajna, Jamal Al Khateeb

Abstract:

This study examined the level of social communication problems, social anxiety, and mood problems among children with ASD (age 6-13 years) enrolled in special classes (n=46) and regular classes (n=36) from teachers' perspective in the schools of a part of Palestine. Teachers responded to three questionnaires - social communication problems, social anxiety and mood problems- that were used to answer the research questions. Results: social communication problems, social anxiety and mood problems were of medium rates for students with ASD enrolled in reguler and special classes. No significant differences in the level of social communication problems could be attributed to class type (Regular, Special) or the grade level-(1st – 3rd, 4th - 6th). There were significant differences in social anxiety levels that could be attributed to grade level in favor of the 4th - 6th grades but there were no significant differences according to class type (Regular, Special). There were statistically significant differences in mood problems levels that could be attributed to the class type in favor of special classes, but no differences were found according to grade level. There was a direct significant relationship between communication problems, social anxiety, and mood problems. Conclusion: social communication problems may be an important risk factor for the development of social anxiety and mood problems among students with ASD.

Keywords: social communication problems, social anxiety, mood problems, autism spectrum disorders

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Authors: Francesca La Rosa , Marina Saresella, Mario Clerici, Michael Heneka

Abstract:

Neuroinflammation plays a key role in the modulation of the pathogenesis of neurodegenerative disorder such as Alzheimer's Disease (AD). Microglia, the main immune effector of the brain, are able to migrate to sites of Amyloid-beta (Aβ) deposition to eliminate Aβ phagocytosis upon activation by multiple receptors: Toll like receptors and scavenger receptors. The issue of whether microglia are able to eliminate pathological lesions such as neurofibrillary tangles or senile plaques from AD brain still remains the matter of controversy. Recent data suggest that the Nod Like Receptor 3 (NLRP3), multiprotein inflammasome complexes, plays a role in AD, as its activation in the microglia by Aβ triggers. IL-1β is produced as a biologically inactive pro-form and requires caspase-1 for activation and secretion. Caspase-1 activity is controlled by inflammasomes. We investigate about the importance of inflammasomes complex in the Aβ phagocytosis and its degradation. The preliminary results of phagocytosis assay and immunofluorescent experiment on primary Microglia cells to lipopolysaccharide (LPS) an Aβ exposure show that a previous treatment with LPS reduce Aβ phagocytosis. Different results were obtained in Primary Microglia wild type, NLRP3 and ASC Knockout suggesting a real inflammasomes involvement in Alzheimer's pathology. Inflammasomes inactivation reduces the production of inflammatory cytokines prolonging the protective activity of microglia and Aβ clearance, featuring a typical microglia phenotype of the early stage of AD disease.

Keywords: Alzheimer disease, innate immunity, neuroinflammation, NLRP3

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Authors: Michael Stevens

Abstract:

David Hunter, a musicologist, has suggested that both Beethoven and Handel had chronic lead poisoning from the wine that they drank. These two eminent musical composers had some striking similarities. Beethoven had alcohol dependency and preferred wine, to which lead had been added to improve the taste. Handel was obese due to an eating disorder that included drinking tainted wine after large meals. They both had paresthesia of their extremities that they interpreted as rheumatism. This is a common sensory symptom from chronic lead poisoning. Their differences are marked in that Beethoven was profoundly deaf by the end of his life, whereas Handel had remarkably good hearing. Handel had paresis of three fingers of his right hand, whereas Beethoven lacked any motor symptoms. Beethoven reported recurrent abdominal pain suggestive of lead colic, whereas it can only be inferred that this symptom was present in Handel. Lead poisoning is likely in Handel because his paralysis was consistent with radial nerve involvement in the dominant hand. In addition, it was cured by hot baths, which have been shown to reduce total body lead content by exchanging with iron and calcium ions in water. Although lead produces predominantly motor symptoms in classic or subacute lead poisoning, and sensory symptoms in chronic lead poisoning, lead poisoning causes a variety of symptoms that depending on duration and level of exposure, are extremely variable from person to person. It therefore seems likely that Handel had lead poisoning, but extremely likely that Beethoven did because of the confirmatory finding of high levels of lead deep in his skull bone, which is a good measure of total body burden.

Keywords: beethoven, handel, lead, poisoning

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Authors: Chhabi Paudel

Abstract:

The food and nutrition security of the people of the mountain of Karnali province of Nepal is dependent on traditional crop biodiversity. The altitude range of the study area is 1800 meters to 2700 meters above sea level. The climate is temperate to alpine. Farmers are adopting subsistent oriented diversified farming systems and selected crop species, cultivars, and local production systems by their own long adaptation mechanism. The major crop species are finger millet, proso millet, foxtail millet, potato, barley, wheat, mountain rice, buckwheat, Amaranths, medicinal plants, and many vegetable species. The genetic and varietal diversity of those underutilized indigenous crops is also very high, which has sustained farming even in uneven climatic events. Biodiversity provides production synergy, inputs, and other agro-ecological services for self-sustainability. But increase in human population and urban accessibility are seen as threats to biodiversity conservation. So integrated conservation measures are suggested, including agro-tourism and other monetary benefits to the farmers who conserve the local biodiversity.

Keywords: crop biodiversity, climate change, in-situ conservation, resilience, sustainability, agrotourism

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Authors: Mahitab A. A. Mahmoud

Abstract:

Despite the international community’s galvanized efforts to achieve gender equality, the Arab world still lags behind for their sustained suppression of diversity and freedoms. In Egypt, homosexuals are defamed and hunted not only by authorities but also by politicized religious institutions and media platforms. The resultant state-sponsored homophobia is reflected in media. This paper offers a critical discourse analysis of the representation of LGBTQs in Egypt’s local news articles and movies in an attempt to investigate the underlying ideology. The results reveal a clichéd portrayal of homosexuals as a social parasite that requires cleansing by the government. LGBTQs are depicted as an outcome of debauchery, unhappy marriage, sexual deviancy, deficiency of masculinity/femininity, absence of the mother and/or father figure(s), abject poverty, excessive wealth, psychiatric disorder, debased instincts, childhood sexual molestation, immorality, deviation from religion, chaos, treason, conspiracy against the regime, to name only a few. This image, which is imposed and sustained by the state, exposes homosexuals to a violation of their human rights by both the police and the society, endangers their lives, breeds intolerance, social inequality and violence, prevents healthy coexistence; and deprives them of living a normal life.

Keywords: critical discourse analysis, gender studies, homophobia, homosexuality, ideology, media studies

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