Search results for: grave’s disease

Authors: ELdessouky Sheta, Sayed Elzomor, Haithem Farghali, Kawkab A. Ahmed, Naglaa A. Abd Elkader

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The present investigation has been dealt with Spirocerca (S.) lupi infested mongrel dogs. This parasitic disease is highly infective to human beings and carnivores. The diagnosis march has been comprised the lateral contrast thoracic radiographs, fecal examination, blood profile, endoscopic examination and histopathological sections of deep seated pinch biopsies. These infested dogs have been put under an adopted treatment with Ivermectin injection combined with oral prednisolone. The obtained results reveal an absence of the pessimistic recognitions particularly after 3 weeks from the onset of treatment. Endoscopically the presented esophageal nodules are marked out in the distal third of infested dogs' esophagus as masses assigned into the esophageal lumen and fundus of stomach. The endoscopic outlook of Spirocerca lupi lesions has been considered an integral procedure of the diagnostic march and for evaluation of treatment follow up. The diagnostic procedures and the recommended treatment are the vet's guidance to care for Spirocerca lupi in dogs, hoping in future to prevent this disease from being spread among human beings and other carnivores.

Keywords: endoscopy, esophagus, stomach spirocercosis, dogs

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Authors: Ruchi Yadav, Shivani Pandey, Prachi Srivastava

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Microarrays provide a rich source of data on the molecular working of cells. Each microarray reports on the abundance of tens of thousands of mRNAs. Virtually every human disease is being studied using microarrays with the hope of finding the molecular mechanisms of disease. Bioinformatics analysis plays an important part of processing the information embedded in large-scale expression profiling studies and for laying the foundation for biological interpretation. A basic, yet challenging task in the analysis of microarray gene expression data is the identification of changes in gene expression that are associated with particular biological conditions. Careful statistical design and analysis are essential to improve the efficiency and reliability of microarray experiments throughout the data acquisition and analysis process. One of the most popular platforms for microarray analysis is Bioconductor, an open source and open development software project based on the R programming language. This paper describes specific procedures for conducting quality assessment, visualization and preprocessing of Affymetrix Gene Chip and also details the different bioconductor packages used to analyze affymetrix microarray data and describe the analysis and outcome of each plots.

Keywords: microarray analysis, R language, affymetrix visualization, bioconductor

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Authors: Asherf El-Abaied, Elsadik Anan, Badereddin Annajar, Mustafa Saieh, Abudalnaser El-Buni

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Zoonotic Cutaneous Leishmaniasis (ZCL) has been endemic in the Northwestern region of Libya for over nine decades. Survey of sandfly fauna in the region revealed that 13 species have been recorded with various distribution and abundance patterns. Phlebotomus papatasi proved to be the main vector of the disease in many areas. To identify sandfly species present in the Al-Asaba town and determine their spatial and seasonal abundance. An epidemiological analysis of the data obtained from the recorded cases was also carried out. Sand flies collected from various sites using sticky traps and CDC miniature light traps during the period from March-November 2006. Recorded ZCL cases were collected from the local Primary Health Care Department and analysed using SPSS statistical package. Ten species of sandflies were identified, seven belong to the genus Phlebotomus and three belong to the genus Sergentomyia. P. papatasi was the most abundant species with peak season recorded in September. The prevalence of the disease was low however; notable increase of ZCL cases in last three years has been indicated.

Keywords: Cutaneous leishmaniasis, Phlebotomus papatasi, sandfly fauna, Libya

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Authors: G. Anjan Babu, G. Sumana, M. Rajasekhar

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Many inherited diseases and non-hereditary disorders are common in the development of renal cystic diseases. Polycystic kidney disease (PKD) is a disorder developed within the kidneys in which grouping of cysts filled with water like fluid. PKD is responsible for 5-10% of end-stage renal failure treated by dialysis or transplantation. New experimental models, application of molecular biology techniques have provided new insights into the pathogenesis of PKD. Researchers are showing keen interest for developing an automated system by applying computer aided techniques for the diagnosis of diseases. In this paper a multi-layered feed forward neural network with one hidden layer is constructed, trained and tested by applying back propagation learning rule for the diagnosis of PKD based on physical symptoms and test results of urinanalysis collected from the individual patients. The data collected from 50 patients are used to train and test the network. Among these samples, 75% of the data used for training and remaining 25% of the data are used for testing purpose. Furthermore, this trained network is used to implement for new samples. The output results in normality and abnormality of the patient.

Keywords: dialysis, hereditary, transplantation, polycystic, pathogenesis

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Authors: Ruzanna Muradyan

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Medical data mining is a crucial field in contemporary healthcare that offers cutting-edge tactics with enormous potential to transform patient care. This abstract examines how sophisticated data mining techniques could transform the healthcare industry, with a special focus on how they might improve patient outcomes. Healthcare data repositories have dynamically evolved, producing a rich tapestry of different, multi-dimensional information that includes genetic profiles, lifestyle markers, electronic health records, and more. By utilizing data mining techniques inside this vast library, a variety of prospects for precision medicine, predictive analytics, and insight production become visible. Predictive modeling for illness prediction, risk stratification, and therapy efficacy evaluations are important points of focus. Healthcare providers may use this abundance of data to tailor treatment plans, identify high-risk patient populations, and forecast disease trajectories by applying machine learning algorithms and predictive analytics. Better patient outcomes, more efficient use of resources, and early treatments are made possible by this proactive strategy. Furthermore, data mining techniques act as catalysts to reveal complex relationships between apparently unrelated data pieces, providing enhanced insights into the cause of disease, genetic susceptibilities, and environmental factors. Healthcare practitioners can get practical insights that guide disease prevention, customized patient counseling, and focused therapies by analyzing these associations. The abstract explores the problems and ethical issues that come with using data mining techniques in the healthcare industry. In order to properly use these approaches, it is essential to find a balance between data privacy, security issues, and the interpretability of complex models. Finally, this abstract demonstrates the revolutionary power of modern data mining methodologies in transforming the healthcare sector. Healthcare practitioners and researchers can uncover unique insights, enhance clinical decision-making, and ultimately elevate patient care to unprecedented levels of precision and efficacy by employing cutting-edge methodologies.

Keywords: data mining, healthcare, patient care, predictive analytics, precision medicine, electronic health records, machine learning, predictive modeling, disease prognosis, risk stratification, treatment efficacy, genetic profiles, precision health

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Authors: Jeremy J. Johnson

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Mediterranean herbs including rosemary (Rosmarinus officinalis) contain a variety of phytochemicals including diterpenes that possess extensive biological activity. Applications of diterpenes, including the more abundant forms carnosol and carnosic acid, have been shown to possess anti-cancer, anti-inflammatory, anti-oxidant, and anti-proliferation properties. To confirm these properties, we have evaluated rosemary extract and selected diterpenes for biological activity in cancer and inflammatory models. Our preliminary data have revealed that select diterpenes can disrupt androgen receptor functionality in prostate and breast cancer cells. This property is unique among natural products for hormone-responsive cancers. The second area of interest has been evaluating rosemary extract and selected diterpenes for activation of sestrin-2, an antioxidant protein, in colon cancer cells. A combination of in vitro and in vivo approaches have been utilized to characterize the activity of rosemary diterpenes in rosemary. Taken together, these results suggest that phytochemicals found in rosemary have distinct pharmacological actions for disrupting cell-signaling pathways in cancer and inflammatory bowel disease.

Keywords: rosemary, diterpene, cancer, inflammation

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Authors: Merilin Ivanova Ivanova, Kalin Dimitrov Atanasov, Stefan Petrov Enchev

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Backgroud: Neuromyelitis optica spectrum disorder, also known as Devic’s disease, is a relapsing demyelinating autoimmune inflammatory disorder of the central nervous system associated with anti-aquaporin 4 (AQP4) antibodies that can manifest with devastating secondary neurological deficits. Most commonly affected are the optic nerves and the spinal cord-clinically this is often presented with optic neuritis (loss of vision), transverse myelitis(weakness or paralysis of extremities),lack of bladder and bowel control, numbness. APS is a core clinical entity of NMOSD and adds to the clinical representation the following symptoms: intractable nausea, vomiting and hiccup, it usually occurs isolated at onset, and can lead to a significant delay in the diagnosis. The condition may have features similar to multiple sclerosis (MS) but the episodes are worse in NMO and it is treated differently. It could be relapsing or monophasic. Possible complications are visual field defects and motor impairment, with potential blindness and irreversible motor deficits. In severe cases, myogenic respiratory failure ensues. The incidence of reported cases is approximately 0.3–4.4 per 100,000. Paediatric cases of NMOSD are rare but have been reported occasionally, comprising less than 5% of the reported cases. Objective: The case serves to show the difficulty when it comes to the diagnostic processes regarding a rare autoimmune disease with non- specific symptoms, taking large interval of rimes to reveal as complete clinical manifestation of the aforementioned syndrome, as well as the necessity of multidisciplinary approach in the setting of а general paediatric department in аn emergency hospital. Methods: itpatient's history, clinical presentation, and information from the used diagnostic tools(MRI with contrast of the central nervous system) lead us to the conclusion .This was later on confirmed by the positive results from the anti-aquaporin 4 (AQP4) antibody serology test. Conclusion: APS is a common symptom of NMOSD and is considered a challenge in a differential-diagnostic plan. Gaining an increased awareness of this disease/syndrome, obtaining a detailed patient history, and performing thorough physical examinations are essential if we are to reduce and avoid misdiagnosis.

Keywords: neuromyelitis, devic's disease, hiccup, autoimmune, MRI

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Authors: Kieren Wilson, Gulnaz Majeed

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NHS constitution gives rights to the patient with suspected cancer to be seen by a cancer specialist within 2 weeks of referral. Guys and St Thomas Hospital (GSTT) is one of the largest cancer centres in London. NICE guidelines have provided guidance for health professionals to refer patients appropriately to RAC. In GSTT suspected gynae cancer referrals are mostly by NHS e-Referral Service with some fax, emails as well as paper referrals. The objective of this study was to evaluate compliance with 2-week referral pathway with emphasis on one stop diagnostic service with supporting efficient pathways. A prospective evaluation over 3 months (1 Jan 2017 to 31 Mar 2017) was undertaken. There were 26 clinics, 761 patients were booked in the clinics with a DNA rate of 13% (n=101) hence 606 patients were seen. Majority of referrals were for post menopausal bleeding (PMB) 25% (n=194) followed by cervical, vaginal, vulval reasons 23% (n=179) (abnormal cytology excluded as patients directly referred to colposcopy unit in GSTT), ovarian 7% (n=54) and endometrial 5% (n=41). Women with new or previous established diagnosis of cancer were 24, cervical (n=17), vulva (n=6) and vagina (n=1). Multifocal preinvasive disease vulva (VIN), vagina (VAIN) and cervix (CIN) was confirmed in twenty-six patients 4% (high prevalence in HIV patients). Majority of cervical referrals: PCB (n=14), cervical erosion (n=7), polyps (n=9) and cervical cyst were benign. However, two women with PMB had cervical cancer. Only 2 out of 13 referrals with vaginal concerns had VAIN. One case with non-cervical glandular cytology was confirmed to have endometrial cancer. One stop service based on the diagnostic support of ultrasound, colposcopy and hysteroscopy was achieved in 54% (n=359). Patients were discharged to GP, benign gynaecology, endometriosis, combined vulval/dermatology clinic or gynae oncology. 33% (n=202) required a second visit, 12% (n=70) third visit, 3% (n=19) fourth visit, 1% (n=4) fifth visit and 1% (n=6) sixth visit. Main reasons for follow ups were the unavailability of diagnostic slots, patient choice, need for interpreters, the discussion following gynae MDM review for triage to benign gynae, delay in availability of diagnostic results like histology/MRI/CT. Recommendations following this study are multi disciplinary review of pathways with the availability of additional diagnostic procedure slots to aim for one stop service. Furthermore, establishment of virtual and telephone consultations to reduce follow ups.

Keywords: multifocal disease, post menopausal bleeding, preinvasive disease, rapid access clinic

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Authors: Luksanaporn Krungkraipetch

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Currently, surgery is the only known effective treatment for pterygium. In certain groups, the probability of recurrence after basic sclera excision is very significant. Tissue grafting is substantially more time-consuming and challenging than keeping the sclera uncovered, but it reduces the chance of recurrence. Conjunctival autograft surgery is older than amniotic membrane graft surgery. The purpose of this study was to compare pterygium surgery with conjunctival autograft against an amniotic membrane transplant. In the study, a randomized controlled trial was used. Four cases were ruled out (two for failing to meet inclusion criteria and the other for refusing to participate). Group I (n = 40) received the intervention, whereas Group II (n = 40) served as the control. Both descriptive and inferential statistical approaches were used, including data analysis and data analysis statistics. The descriptive statistics analysis covered basic pterygium surgery information as well as the risk of recurrent pterygium. As an inferential statistic, the chi-square was used. A p-value of 0.05 is statistically significant. The findings of this investigation were the majority of patients in Group I were female (70.0%), aged 41–60 years, had no underlying disease (95.0%), and had nasal pterygium (97.5%). The majority of Group II patients were female (60.0%), aged 41–60 years, had no underlying disease (97.5%) and had nasal pterygium (97.5%). Group I had no recurrence of pterygium after surgery, but Group II had a 7.5% recurrence rate. Typically, the recurrence time is twelve months. The majority of pterygium recurrences occur in females (83.3%), between the ages of 41 and 60 (66.7%), with no underlying disease. The recurrence period is typically six months (60%) and a nasal pterygium site (83.3%). Pterygium recurrence after surgery is associated with nasal location (p =.002). 16.7% of pterygium surgeries result in complications; one woman with nasal pterygium underwent autograft surgery six months later. The presence of granulation tissue at the surgical site is a mild complication. A pterygium surgery recurrence rate comparison of conjunctival autograft and amniotic membrane transplantation revealed that conjunctival autograft had a higher recurrence rate than amniotic membrane transplantation (p =.013).

Keywords: pterygium, pterygium surgery, conjunctival autograft, amniotic membrane transplantation

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Authors: Amina Smai, Fairouz Haddadj, Habiba Saadi-Idouhar, Meriem Aissi, Safia Zenia, Salaheddine Doumandji

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Coccidiosis is a very common intestinal parasitic disease caused by a worldwide distributed protozoan of the genus Eimeria. This disease is very common in young birds beyond the second week of life, especially in land-based breeding. The study was carried out in a hunting center of Zeralda located in the north-east of Algiers. The objective of our work is to study the evolution of coccidiosis in quails from 1 to 35 days old by collecting their droppings daily. These are analyzed in the laboratory using the flotation method and the Mac Master one to count coccidia. Weight changes are taken into account as well as mortality in parallel with certain zootechnical parameters such as density. The species of coccidia recovered is Eimeria coturnicis. The results showed that there is an average evolution of mortality of individuals with a rate of 13.33% due to the presence of coccidia with a significant regression (p=0.031). The weight of the quails increases with the age of the animal with a rapid growth rate from the 3rd week onwards. Indeed, the statistical analysis reveals that the evolution of the number did not affect the evolution of the weight (p=0.70) and the GMQ (R=0.52).

Keywords: coccidiosis, Coturnix japonica, daily average gain, weight

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Authors: Mahdi Akhbardeh

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St John's wort plant can help to treat depression disease through decreasing this disease symptom, due to having some similar features of Prozac (Fluoxetine Hcl) pill. People suffering from slight depression who have fear of using antidepressants side effects can use St John's wort drops under doctor observation. This method of treatment is proposed specially to those women who are spending menopause or depression resulted from this period. St John's wort plant have proposed traditional and plant medicine as newest researches in treating mood disorders compared to Prozac (Fluoxetine Hcl) drug in treating depression disease which is being administrated in clinic research center of Washington. Objective: the aim of this study is to find an alternative treatment method in people suffering from depression which are treated with Prozac (Fluoxetine Hcl). Almost 70 percent of treatment failures with Prozac (Fluoxetine Hcl) drug in patients suffering from slight to normal depression is due to intensive side effects including: decrease in blood pressure, reduce in sexual desire and 30 percent of it is due to this drug affectless in treatment procedure which leads to leaving treatment. Results of Hypercuim plant function are exactly similar to antidepressants. Increase in serotonin amount in brain synopsis terminal end causes increase in existence time of this material in this part. In fact these two drugs have similar function. Though side effects of Hypercuim plant(St John's wort) including headache and slight nausea tolerable. Results: St John's wort plant can be used lonely in slight to normal depressions in which patients are avoiding Prozac (Fluoxetine Hcl) drug due to it's side effects. In intensive depressions through which general patients don’t indicate positive response to drug, it is probably expected relative or even complete treatment through combining antidepressants drugs with this plant. This treatment method has been investigated and confirmed in clinical tests and researches.

Keywords: depression, St John's wort, Prozac, antidepressant

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Authors: Maryam Hashemi, Nematollah Razmi, Rasool Madani

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M. paratuberculosis is a slow growing mycobactin dependent mycobacterial species known to be the causative agent of Johne’s disease in all species of domestic ruminants worldwide. JD is characterized by gradual weight loss; decreased milk production. Excretion of the organism may occur for prolonged periods (1 to 2.5 years) before the onset of clinical disease. In recent years, researchers focus on identification a specific antigen of MAP to use in diagnosis test and preparation of effective vaccine. In this paper, for production of polyclonal antibody against proteins of Mycobacterium avium paratuberculosis cell wall a rabbit immunization at a certain time period with antigen. After immunization of the animal, blood samples were collected from the rabbit for producing enriched serum. Antibodies were purified with ion exchange chromatography. For exact measurement of interaction, western blotting test was used and as it is demonstrated in the study, sharp bands appear in nitrocellulose paper and specific bands were 50 and 150 KD molecular weight. These were indicating immunodominant proteins.

Keywords: immunodominant, paratuberculosis, Western blotting, cell wall proteins, protein purification

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Authors: Barun K. De

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Acquired immunodeficiency syndrome (AIDS) is caused by two types of human immunodeficiency viruses, collectively designated HIV. HIV infection is spreading globally particularly in developing countries. Before an individual is diagnosed with HIV, the disease goes through different phases. First there is an acute early phase that is followed by an established or chronic phase. Subsequently, there is a latency period after which the individual becomes immunodeficient. It is in the acute phase that an individual is highly infectious due to a high viral load. Presently, HIV diagnosis involves use of tests that do not detect the acute phase infection during which both the viral RNA and p24 antigen are expressed. Instead, these less sensitive tests detect antibodies to viral antigens which are typically sero-converted later in the disease process following acute infection. These antibodies are detected in both asymptomatic HIV-infected individuals as well as AIDS patients. Studies indicate that early diagnosis and treatment of HIV infection can reduce medical costs, improve survival, and reduce spreading of infection to new uninfected partners. Newer 4th generation combination antigen/antibody tests are highly sensitive and specific for detection of acute and established HIV infection (HIV1 and HIV2) enabling immediate linkage to care. The CDC (Center of Disease Control, USA) recently recommended an algorithm involving three different tests to screen and diagnose acute and established infections of HIV-1 and HIV-2 in a general population. Initially a 4th generation combo test detects a viral antigen p24 and specific antibodies against HIV -1 and HIV-2 envelope proteins. If the test is positive it is followed by a second test known as a differentiation assay which detects antibodies against specific HIV-1 and HIV-2 envelope proteins confirming established infection of HIV-1 or HIV-2. However if it is negative then another test is performed that measures viral load confirming an acute HIV-1 infection. Screening results of a Phoenix area population detected 0.3% new HIV infections among which 32.4% were acute cases. Studies in the U.S. indicate that this algorithm effectively reduces HIV infection through immediate treatment and education following diagnosis.

Keywords: new algorithm, HIV, diagnosis, infection

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Authors: T. Heikkinen, J. Oksman, T. Bragge, A. Nurmi, O. Kontkanen, T. Ahtoniemi

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Motor impairment is an inherent phenotypic feature of several chronic neurodegenerative diseases, and pharmacological therapies aimed to counterbalance the motor disability have a great market potential. Animal models of chronic neurodegenerative diseases display a number deteriorating motor phenotype during the disease progression. There is a wide array of behavioral tools to evaluate motor functions in rodents. However, currently existing methods to study motor functions in rodents are often limited to evaluate gross motor functions only at advanced stages of the disease phenotype. The most commonly applied traditional motor assays used in CNS rodent models, lack the sensitivity to capture fine motor impairments or improvements. Fine motor skill characterization in rodents provides a more sensitive tool to capture more subtle motor dysfunctions and therapeutic effects. Importantly, similar approach, kinematic movement analysis, is also used in clinic, and applied both in diagnosis and determination of therapeutic response to pharmacological interventions. The aim of this study was to apply kinematic gait analysis, a novel and automated high precision movement analysis system, to characterize phenotypic deficits in three different chronic neurodegenerative animal models, a transgenic mouse model (SOD1 G93A) for amyotrophic lateral sclerosis (ALS), and R6/2 and Q175KI mouse models for Huntington’s disease (HD). The readouts from walking behavior included gait properties with kinematic data, and body movement trajectories including analysis of various points of interest such as movement and position of landmarks in the torso, tail and joints. Mice (transgenic and wild-type) from each model were analyzed for the fine motor kinematic properties at young ages, prior to the age when gross motor deficits are clearly pronounced. Fine motor kinematic Evaluation was continued in the same animals until clear motor dysfunction with conventional motor assays was evident. Time course analysis revealed clear fine motor skill impairments in each transgenic model earlier than what is seen with conventional gross motor tests. Motor changes were quantitatively analyzed for up to ~80 parameters, and the largest data sets of HD models were further processed with principal component analysis (PCA) to transform the pool of individual parameters into a smaller and focused set of mutually uncorrelated gait parameters showing strong genotype difference. Kinematic fine motor analysis of transgenic animal models described in this presentation show that this method isa sensitive, objective and fully automated tool that allows earlier and more sensitive detection of progressive neuromuscular and CNS disease phenotypes. As a result of the analysis a comprehensive set of fine motor parameters for each model is created, and these parameters provide better understanding of the disease progression and enhanced sensitivity of this assay for therapeutic testing compared to classical motor behavior tests. In SOD1 G93A, R6/2, and Q175KI mice, the alterations in gait were evident already several weeks earlier than with traditional gross motor assays. Kinematic testing can be applied to a wider set of motor readouts beyond gait in order to study whole body movement patterns such as with relation to joints and various body parts longitudinally, providing a sophisticated and translatable method for disseminating motor components in rodent disease models and evaluating therapeutic interventions.

Keywords: Gait analysis, kinematic, motor impairment, inherent feature

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Authors: Hongmei Gu, Shaobo Liang, Richard Bergman

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With current worldwide trend in designs to have net-zero emission buildings to mitigate climate change, widespread use of mass timber products, such as Cross Laminated Timber (CLT), or Nail Laminated Timber (NLT) or Dowel Laminated Timber (DLT) in buildings have been proposed as one approach in reducing Greenhouse Gas (GHG) emissions. Consequentially, mass timber building designs are being adopted more and more by architectures in North America, especially for mid- to high-rise buildings where concrete and steel buildings are currently prevalent, but traditional light-frame wood buildings are not. Wood buildings and their associated wood products have tended to have lower environmental impacts than competing energy-intensive materials. It is common practice to conduct life cycle assessments (LCAs) and life cycle cost analyses on buildings with traditional structural materials like concrete and steel in the building design process. Mass timber buildings with lower environmental impacts, especially GHG emissions, can contribute to the Net Zero-emission goal for the world-building sector. However, the economic impacts from CLT mass timber buildings still vary from the life-cycle cost perspective and environmental trade-offs associated with GHG emissions. This paper quantified the Total Life Cycle Cost and cradle-to-grave GHG emissions of a pre-designed CLT mass timber building and compared it to a functionally-equivalent concrete building. The Total life cycle Eco-cost-efficiency is defined in this study and calculated to discuss the trade-offs for the net-zero emission buildings in a holistic view for both environmental and economic impacts. Mass timber used in buildings for the United States is targeted to the materials from the nation’s sustainable managed forest in order to benefit both national and global environments and economies.

Keywords: GHG, economic impact, eco-cost-efficiency, total life-cycle costs

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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: Dayei Oh, Feeza Vasudeva, Narges Azizi Fard

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Drawing on the Foucauldian conception of episteme, epistemic communities refer to a community in which members share common frames of epistemic reference, delineating the proper construction of social realities for their members. One of the most cited definitions of epistemic communities is a group of professionals possessing acknowledged expertise and proficiency in a specific field, influencing policymaking and governance. More recently, the advancement of the Internet has changed the way society produces, disseminates, and consumes knowledge. Against this backdrop, this literature review explores the ways in which online epistemic communities are studied in communication scholarship between 2002 and 2022. Examining 92 peer-reviewed journal articles from the Web of Science database, three research objectives have been addressed: (1) geographical contexts, platforms, and methods that are studied in communication research, (2) different types of epistemic communities, and (3) prevailing themes and concepts that are related to the research of the chosen epistemic communities. This research demonstrates increasing scholarly attention towards the lay public as prominent online epistemic communities along with more conventional epistemic communities such as academia and journalists, hinting at how the Internet provides epistemic capacities for negotiating the boundaries of epistemic authority and competencies between experts and lay people. Through qualitative reading of these papers, the findings show that communication research tends to approach epistemic communities of the political left and right asymmetrically: The right-wing epistemic communities are studied in connection with mis/disinformation, conspiracy theories, populist rejection of authoritative epistemologies, whereas the left-wing communities are studied as emancipatory epistemic struggles and activism against Western, colonial, white, and male-centric knowledge systems. This points to a grave need for communication and multidisciplinary scholarship to investigate such uncharted characters of right- and left-wing epistemic communities.

Keywords: communication research, internet, knowledge, online epistemic communities

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Authors: Sadegh Marzban, Mohamad Sobhan Sheikh Andalibi, Farnaz Ghassemi, Farzad Towhidkhah

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Parkinson's disease (PD), which is characterized by the tremor at rest, rigidity, akinesia or bradykinesia and postural instability, affects the quality of life of involved individuals. The concept of a fractal is most often associated with irregular geometric objects that display self-similarity. Fractal dimension (FD) can be used to quantify the complexity and the self-similarity of an object such as tremor. In this work, we are aimed to propose a new method for evaluating hyperkinetic movements such as tremor, by using the FD and other correlated parameters in patients who are suffered from PD. In this study, we used 'the tremor data of Physionet'. The database consists of fourteen participants, diagnosed with PD including six patients with high amplitude tremor and eight patients with low amplitude. We tried to extract features from data, which can distinguish between patients before and after medication. We have selected fractal dimensions, including correlation dimension, box dimension, and information dimension. Lilliefors test has been used for normality test. Paired t-test or Wilcoxon signed rank test were also done to find differences between patients before and after medication, depending on whether the normality is detected or not. In addition, two-way ANOVA was used to investigate the possible association between the therapeutic effects and features extracted from the tremor. Just one of the extracted features showed significant differences between patients before and after medication. According to the results, correlation dimension was significantly different before and after the patient's medication (p=0.009). Also, two-way ANOVA demonstrates significant differences just in medication effect (p=0.033), and no significant differences were found between subject's differences (p=0.34) and interaction (p=0.97). The most striking result emerged from the data is that correlation dimension could quantify medication treatment based on tremor. This study has provided a technique to evaluate a non-linear measure for quantifying medication, nominally the correlation dimension. Furthermore, this study supports the idea that fractal dimension analysis yields additional information compared with conventional spectral measures in the detection of poor prognosis patients.

Keywords: correlation dimension, non-linear measure, Parkinson’s disease, tremor

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Authors: Dona Pamoda W. Jayatunga, Veer Bala Gupta, Eugene Hone, Ralph N. Martins

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Being a neurodegenerative disorder, Alzheimer’s disease (AD) affects a majority of the elderly demented worldwide. The key risk factors for AD are age, metabolic syndrome, allele status of APOE gene, head injuries and lifestyle. The progressive nature of AD is characterized by symptoms of multiple cognitive deficits exacerbated over time, leading to death within a decade from clinical diagnosis. However, it is revealed that AD originates via a prodromal phase that spans from one to few decades before symptoms first manifest. The key pathological hallmarks of AD brains are deposition of amyloid beta (Aβ) plaques and neurofibrillary tangles (NFT). However, the yet unknown etiology of the disease fails to distinguish mitochondrial dysfunction between a cause or an outcome. The absence of early diagnosis tools and definite therapies for AD have permitted recruits of nutraceutical-based approaches aimed at reducing the risk of AD by modulating lifestyle or be used as preventive tools during AD prodromal state before widespread neurodegeneration begins. The objective of the present study was to investigate beneficial effects of luteolin, a plant-based flavone compound, against AD. The neuroprotective effects of luteolin on amyloid beta (Aβ) (1-42)-induced neurotoxicity was measured using cultured human neuroblastoma BE(2)-M17 cells. After exposure to 20μM Aβ (1-42) for 48 h, the neuroblastoma cells exhibited marked apoptotic death. Co-treatment of 20μM Aβ (1-42) with luteolin (0.5-5μM) significantly protected the cells against Aβ (1-42)-induced toxicity, as assessed by the MTS [3-(4,5-dimethylthiazol-2-yl)-5-(3-carboxymethoxyphenyl)-2(4sulfophenyl)-2H-tetrazolium, inner salt; MTS] reduction assay and the lactate dehydrogenase (LDH) cell death assay. The results suggest that luteolin prevents Aβ (1-42)-induced apoptotic neuronal death. However, further studies are underway to determine its protective mechanisms in AD including the activity against tau hyperphosphorylation and mitochondrial dysfunction.

Keywords: Aβ (1-42)-induced toxicity, Alzheimer’s disease, luteolin, neuroblastoma cells

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Authors: Paul Moses Ndegwa, Teresia Kabucho, Lucy Wanjiru, Esther Wanjiru, Brian Githaiga, Jecinta Wambui

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Health outcome has improved in the country since 2013 following the adoption of the new constitution in Kenya with devolved governance with administration and health planning functions transferred to county governments. 2018-2022 development agenda prioritized universal healthcare coverage, food security, and nutrition, however, the emergence of Covid-19 and the increase of non-communicable diseases pose a challenge and constrain in an already overwhelmed health system. A study was conducted July-November 2021 to establish key challenges in achieving universal healthcare coverage within the county and best practices for improved non-communicable disease control. 14 health workers ranging from nurses, doctors, public health officers, clinical officers, and pharmaceutical technologists were purposely engaged to provide critical information through questionnaires by a trained duo observing ethical procedures on confidentiality. Data analysis. Communicable diseases are major causes of morbidity and mortality. Non-communicable diseases contribute to approximately 39% of deaths. More than 45% of the population does not have access to safe drinking water. Study noted geographic inequality with respect to distribution and use of health resources including competing non-health priorities. 56% of health workers are nurses, 13% clinical officers, 7% doctors, 9%public health workers, 2% are pharmaceutical technologists. Poor-quality data limits the validity of disease-burdened estimates and research activities. Risk factors include unsafe water, sanitation, hand washing, unsafe sex, and malnutrition. Key challenge in achieving universal healthcare coverage is the rise in the relative contribution of non-communicable diseases. Improve targeted disease control with effective and equitable resource allocation. Develop high infectious disease control mechanisms. Improvement of quality data for decision making. Strengthen electronic data-capture systems. Increase investments in the health workforce to improve health service provision and achievement of universal health coverage. Create a favorable environment to retain health workers. Fill in staffing gaps resulting in shortages of doctors (7%). Develop a multi-sectional approach to health workforce planning and management. Need to invest in mechanisms that generate contextual evidence on current and future health workforce needs. Ensure retention of qualified, skilled, and motivated health workforce. Deliver integrated people-centered health services.

Keywords: multi-sectional approach, equity, people-centered, health workforce retention

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Authors: Fazel Zinat Motlagh, Reza Chaman, Rashid Ghafari, Zahra Behzad, Ahmad Ali Eslami

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Background: Chronic disease management requires the individual to perform several self-care behaviors. Self-efficacy, a widely used psychosocial concept, is associated with the ability to manage chronic disease. In this study, we examine the association between self-efficacy and self-care behaviors related to hypertension. Methods: In this cross-sectional study, conducted in Kohgiluye Boyer Ahmad province, the south of Iran, a total of 1836 hypertension patients, were randomly selected and participated in the study. Self-care behavior was measured with using H-SCALE (Hypertension Self-Care Activity Level Effects). Logistic regression conducted to detect correlation between self-efficacy and adherence to hypertension self-care behaviors. Results: Less than half (40.8%) of the participants reported that they have good self-efficacy to manage hypertension. Good self-efficacy was significantly associated with improve in adherence to medication (95% CI: 1.68, 1.83), eating a low-salt diet (95% CI: 1.44–1.73), physical activity (95% CI: 1.39–1.55), quit smoking (95% CI: 0.38–0.47), and weight management techniques (95% CI: 0.66–0.82). Conclusion: Hypertension self-efficacy was associated with adherence to self-care behaviors among adult with hypertension. According to our finding hypertension is a manageable condition. Self-efficacy is important factor in adherence with self-care behaviors related with hypertension.

Keywords: self-efficacy, hypertension, self-care, Iran

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Authors: Frank Boris Feutmba Keutchou, Saurelle Fabienne Bieghan Same, Verelle Elsa Fogang Pokam, Charles Ursula Metapi Meikeu, Angel Marilyne Messop Nzomo, Ousman Tamgue

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Infectious diseases are one of the most important causes of morbidity and mortality worldwide. These diseases are caused by micro-pathogenic organisms, such as bacteria, viruses, parasites, and fungi. Heritable changes in gene expression that do not involve changes to the underlying DNA sequence are referred to as epigenetics. Emerging evidence suggests that epigenetic mechanisms are important in the emergence and progression of infectious diseases. Pathogens can manipulate host epigenetic machinery to promote their own replication and evade immune responses. The Human Genome Project has provided new opportunities for developing better tools for the diagnosis and identification of target genes. Several epigenetic modifications, such as DNA methylation, histone modifications, and non-coding RNA expression, have been shown to influence infectious disease outcomes. Understanding the epigenetic mechanisms underlying infectious diseases may result in the progression of new therapeutic approaches focusing on host-pathogen interactions. The goal of this study is to show how different infectious agents interact with host cells after infection.

Keywords: epigenetic, infectious disease, micro-pathogenic organism, phenotype

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Authors: S. R. M. Krishna, R. Santosh Kumar, V. Kamakshi Prasad

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Machine learning techniques are applied for the analysis of the impact of mental illness on the burden of disease. It is calculated using the disability-adjusted life year (DALY). DALYs for a disease is the sum of years of life lost due to premature mortality (YLLs) + No of years of healthy life lost due to disability (YLDs). The critical analysis is done based on the Data sources, machine learning techniques and feature extraction method. The reviewing is done based on major databases. The extracted data is examined using statistical analysis and machine learning techniques were applied. The prediction of the impact of mental illness on the population using machine learning techniques is an alternative approach to the old traditional strategies, which are time-consuming and may not be reliable. The approach makes it necessary for a comprehensive adoption, innovative algorithms, and an understanding of the limitations and challenges. The obtained prediction is a way of understanding the underlying impact of mental illness on the health of the people and it enables us to get a healthy life expectancy. The growing impact of mental illness and the challenges associated with the detection and treatment of mental disorders make it necessary for us to understand the complete effect of it on the majority of the population.

Keywords: ML, DAL, YLD, YLL

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Authors: Mehrdad Sheikhvatan, Mohammad Ali Boroumand, Mehrdad Behmanesh, Shayan Ziaee

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Contradictory results have been obtained regarding the role of integrin, beta 3 (ITGB3) gene polymorphisms in occurrence of acute myocardial infarction (MI) in patients with coronary artery disease (CAD). Hence, we aimed to assess the association between 1565C/T polymorphism of ITGB3 gene and increased risk for acute MI in patients who suffered premature CAD in Iranian population. Our prospective study included 1000 patients (492 men and 508 women aged 21 to 55 years) referred to Tehran Heart center during a period of four years from 2008 to 2011 with the final diagnosis of premature CAD and classified into two groups with history of MI (n = 461) and without of MI (n = 539). The polymorphism variants were determined by PCR-RFLP technique by entering 10% of randomized samples and then genotyping of the polymorphism was also conducted by High Resolution Melting (HRM) method. Among study samples, 640 were followed with a median follow-up time 45.74 months for determining association of long-term major adverse cardiac events (MACE) and genotypes of polymorphisms. There was no significant difference in the frequency of 1565C/T polymorphism between the MI and non-MI groups. The frequency of wild genotype was 69.2% and 72.2%, the frequency of homozygous genotype was 21.3% and 18.4%, and the frequency of mutant genotype was 9.5% and 9.5%, respectively (p=0.505). Results were also similar when adjusted for covariates in a multivariate logistic regression model. No significant difference was also found in total-MACE free survival rate between the patients with different genotypes of 1565C/T polymorphism in both MI and non-MI group. The carriage of the 1565C/T polymorphism of ITGB3 gene seems unlikely to be a significant risk factor for the development of MI in Iranian patients with premature CAD. The presence of this ITGB3 gene polymorphism may not also predict long-term cardiac events.

Keywords: coronary artery disease, myocardial infarction, gene, integrin, beta 3, polymorphism

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Authors: Wasantha Subasinghe

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Crimes are one of big social problems in Sri Lanka. Crimes can be seen as simply way as an activity that against for the society or public law. There are offences in minor crimes and grave crimes including murder, rape, trafficking, robbery, excise, narcotic, kidnapping and so on. There are various forms of punishment such as bailing, fining, and prisoning to the death penalty. Death penalty contains the killing of an offender for an offense. There are 23 prison institutions in Sri Lanka including 03 closed prisoners and 20 remand prisons. There are 10 work camps, 02 open prison camps, 01 training school for youthful offenders and 02 correctional centers for youthful offenders. Capital punishment is legal in Sri Lanka as many other countries as India, Japan, Bangladesh, Iran and Iraq so on. When compared unconvicted prisoners from 2006-2010 there is an increase. It was 89190 in 2006 and it was 100191 in 2010. There were 28732 of convicted prisoners and it was 32128 in 2010. There were 165 Death sentences in 2006 and it was 96 in 2010. There are 540 individuals had been sentenced to death. The death penalty has not been implemented in Sri Lanka since 1976. Research problem: What are the feelings of prisoners as waiting for death?’ Objectives of the study were identifying prisoners’ point of view on their punishment and root causes for their offence. Case studies were conducted to identify the research problem and data were collected using formal interviews. Research area was Welikada prison. Stratified sampling method in probability samplings was used. Sample size was 20 cases from death penalty and life in prison prisoners and 20 from other convicted prisoners. Findings revealed causes and feelings them as offenders. They need if death penalty or freedom. Some of them need to convert death sentence to life imprisonment. They are physically and mentally damaged after their imprisonment. Lack of hope and as well as lack of welfare and rehabilitation programs they suffered their lives.

Keywords: death penalty, expectations, life imprisonment, rehabilitation

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Authors: Yen-Fen Shen, Meng-Fan Li

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The study aims to investigate the effect of full-body vertical rhythmic training on fatigue, physical activity, and quality of life among middle-aged and elderly hemodialysis patients. The study adopted a quasi-experimental research method and recruited 43 long-term hemodialysis patients from a medical center in northern Taiwan, with 23 and 20 participants in the experimental and control groups, respectively. The experimental group received full-body vertical rhythmic training as an intervention, while the control group received standard hemodialysis care without any intervention. Both groups completed the measurements by using "Fatigue Scale", "Physical Activity Scale" and "Chinese version of the Kidney Disease Quality of Life Questionnaire" before and after the study. The experimental group underwent a 10-minute full-body vertical rhythmic training three times per week, which lasted for eight weeks before receiving regular hemodialysis treatment. The data were analyzed by SPSS 25 software, including descriptive statistics such as frequency distribution, percentages, means, and standard deviations, as well as inferential statistics, including chi-square, independent samples t-test, and paired samples t-test. The study results are summarized as follows: 1. There were no significant differences in demographic variables, fatigue, physical activity, and quality of life between the experimental and control groups in the pre-test. 2. After the intervention of the “full-body vertical rhythmic training,” the experimental group showed significantly better results in the category of "feeling tired and fatigued in the lower back", "physical functioning role limitation", "bodily pain", "social functioning", "mental health", and "impact of kidney disease on life quality." 3. The paired samples t-test results revealed that the control group experienced significant differences between the pre-test and post-test in the categories of feeling tired and fatigued in the lower back, bodily pain, social functioning mental health, and impact of kidney disease on life quality, with scores indicating a decline in life quality. Conversely, the experimental group only showed a significant worsening in bodily pain" and the impact of kidney disease on life quality, with lower change values compared to the control group. Additionally, there was an improvement in the condition of "feeling tired and fatigued in the lower back" for the experimental group. Conclusion: The intervention of the “full-body vertical rhythmic training” had a certain positive effect on the quality of life of the experimental group. While it may not entirely enhance patients' quality of life, it can mitigate the negative impact of kidney disease on certain aspects of the body. The study provides clinical practice, nursing education, and research recommendations based on the results and discusses the limitations of the research.

Keywords: hemodialysis, full-body vertical rhythmic training, fatigue, physical activity, quality of life

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Authors: Arezoo Fallahi, Siamak Derakhshan, Parvaneh Taymoori, Babak Nematshahrbabaki

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Background: Osteoporosis, the most common metabolic bone disease, is an important health care issue. Not only the cost of disease is high but also is one of the causes of disability and mortality and effect on quality of life. Although self-care is effective on disease, s control and treatment but still effective factors on self-care of patient, s viewpoint have not been survey. The aim of this study was to explore effective factors on self-care in women with osteoporosis. Materials and methods: This study was done by conventional content analysis approach in year 2014. Through purposeful sampling 15 women referred to bone mass densitometry centers participated in this study. Inclusion criteria were: Women older than 50 years old with osteoporosis, final diagnosis of osteoporosis for over six –month period, T-score index below -2.5 (lower back or hip), drug use by patients with a physician’s prescription, ability in speaking and attending to participate in the study. Data was collected by face to face and group semi-structure deep interviews and analyzed via content analysis method. To support of rigor of data, criteria credibility, confirmability and transferability were used. Results: during data analysis five categories developed: “hope and disability in the face of illness”, “mutual roles of physician”, “role of family” and “administrative centers and organizations”. To perform self-care behaviors, the participations of this study emphasized on pay attention to their own healthy, regarding patients' rights by physician, pay attention to women's health by men, and the role of media especially radio and television. Conclusion: the finding of the study showed that women’s responsibility with osteoporosis for their health is not a factor but it is multifactorial. Increasing life expectancy in patients, attention to patients needs by physician, increasing health promotion programs in the media and enhancing role of family may provide conditions and infrastructure to empowerment women in doing self-care behavior.

Keywords: women, osteoporosis, self-care, content analysis

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Authors: Alexey Yu. Martynov, Sulejman Bayramov

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Introduction: The myocardial bridging is the most common anomaly of the coronary arteries (CA). Depending on the examination method, the frequency of detected myocardial bridges (MB) varies in a rather wide range. The typical clinical manifestations of MB are angina pectoris, arrhythmias, sudden cardiac death. Objective: To study the incidence of MB in patients hospitalized with coronary artery disease (CAD). To assess clinical manifestations of MB in patients admitted with CAD. Materials and methods: A retrospective analysis of 19159 case histories of patients admitted at clinical city hospital in Moscow from 01.01.2018 to 31.12 2019 with CAD was performed. 9384 patients’ coronary angiographies (CAG) were examined for MB. The localization of MB, the degree of coronary contraction by MB, the number of MB, isolated MB and combined with CAD were assessed. The clinical manifestations of MB were determined. Results: MB was detected in 52 patients all with one myocardial bridge. 20 patients with MB have intact CA, and 32 patients have MB combined with CAD. Among 20 patients with intact CA: I degree of MB contraction (up to 50%) was detected in 9 patients. Clinical manifestations in five cases were angina pectoris, in 3 myocardial infarction (MI) - 1 patients with ST segment elevation MI (STEMI), 2 without ST segment elevation MI (NSTEMI), 1 post-infarction cardiosclerosis (PICS). Stable angina II FC in 3, III FC in 1, vasospastic angina (VSA) in 1 patient. II degree of MB contraction (up to 50-70%) was determined in 9 patients: in seven cases angina pectoris was detected, 1 NSTEMI, 1 PICS. Stable angina II FC in 3, III FC in 1, VSA in 3 patients. III degree of MB contraction (> 70%) detected in 2 patients. II FC stable angina in one case, PICS in another. Among 32 patients having MB combined with CAD I degree of MB contraction was observed in 20 patients. Clinical manifestations in 12 cases were angina pectoris in 8 II FC and in 4 III FC, 7 MI 6 with STEMI and 1 NSTEMI, 1 PICS. II degree of MB contraction was detected in 7 patients, 4 of them had angina pectoris, 3 MI 2 with STEMI and 1 NSTEMI. Stable angina II FC in 3, VSA in 1 patients. III degree of MB contraction was diagnosed in five patients. In two cases, II FC and III FC stable angina were observed, 2 MI with STEMI and NSTEMI, 1 PICS. Conclusions: MB incidence is one in 368 patients with CAD. The most common involvement (68%) is MB combined with CA atherosclerotic lesions. MB with intact CA are detected in one-third (32%) of patients. The first-degree MB contraction is most frequent condition. MI is more often detected in intact CA with first degree MB than in the second degree. The degree of MB contraction was not correlated with the severity of the clinical manifestations.

Keywords: clinical manifestations, coronary angiography, coronary artery disease, myocardial bridging, myocardial infarction, stable angina

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Authors: Hassan Nour, Nouh Mounadi, Oussama Abchir, Belaidi Salah, Samir Chtita

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Cholinesterase enzymes are biological catalysts essential for the transformation of acetylcholine, which is a neurotransmitter implicated in memory and learning, into acetic acid and choline, altering the neurotransmission process in Alzheimer’s disease patients. Therefore, inhibition of cholinesterase enzymes is a relevant strategy for the symptomatic treatment of Alzheimer’s disease. The current investigation aims to explore potential Cholinesterase (ChE) inhibitors through a comprehensive computational approach. Forty-nine phytoconstituents extracted from Cannabis sativa L were in-silico screened using molecular docking, pharmacokinetic and toxicological analysis to evaluate their possible inhibitory effect towards the cholinesterase enzymes. Two phytoconstituents belonging to cannabinoid derivatives were revealed to be promising candidates for Alzheimer therapy by acting as cholinesterase inhibitors. They have exhibited high binding affinities towards the cholinesterase enzymes and showed their ability to interact with key residues involved in cholinesterase enzymatic activity. In addition, they presented good ADMET profiles allowing them to be promising oral drug candidates. Furthermore, molecular dynamics (MD) simulations were executed to explore their interactions stability under mimetic biological conditions and thus support our findings. To corroborate the docking results, the binding free energy corresponding to the more stable ligand-ChE complexes was re-estimated by applying the MM-PBSA method. MD and MM-PBSA studies affirmed that the ligand-ChE recognition is spontaneous reaction leading to stable complexes. The conducted investigations have led to great findings that would strongly guide the pharmaceutical industries towards the rational development of potent anti-Alzheimer agents.

Keywords: alzheimer’s disease, molecular docking, cannabis sativa l, cholinesterase inhibitors

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Authors: Seraj Makkawi, Abdulaziz A. Alqarni, Himyan Alghaythee, Suzan Y. Alharbi, Anmar Fatani, Reem Adas, Ahmad R. Abuzinadah

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Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is a neurodegenerative disease that involves both the upper and lower motor neurons. Familial ALS, including superoxide dismutase 1 (SOD1) mutation, accounts for 5-10% of all cases of ALS. Typically, the symptoms of ALS are purely motor, though coexistent sensory symptoms have been reported in rare cases. In this report, we describe the case of a 47- year-old man who presented with progressive bilateral lower limb weakness and numbness for the last four years. A nerve conduction study (NCS) showed evidence of coexistent axonal sensorimotor polyneuropathy in addition to the typical findings of ALS in needle electromyography. Genetic testing confirmed the diagnosis of familial ALS secondary to the SOD1 genetic mutation. This report highlights that the presence of sensory symptoms should not exclude the possibility of ALS in an appropriate clinical setting.

Keywords: Saudi Arabia, polyneuropathy, SOD1 gene mutation, familial amyotrophic lateral sclerosis, amyotrophic lateral sclerosis

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