Search results for: peripheral vascular disease

Authors: Walid Abouzeid, Mohamed Shadad, Mostafa Farid, Magdy El Hawary

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The most frequent treatable vascular abnormality of the spinal canal is spinal dural arteriovenous fistulae (SDAVFs), which cause progressive para- or quadriplegia mostly affecting elderly males. SDAVFs are present in the thoracolumbar region. The main goal of treatment must be to obliterate the shunting zone via superselective embolization with the usage of a liquid embolic agent. This study aims to evaluate endovascular technique as a safe and efficient approach for the treatment SDAVFs, especially with long-term follow-up clinical outcomes. Study Design: A retrospective clinical case study. From May 2010 to May 2017, 15 patients who had symptoms attributed to SDAVFs underwent the operation in the Departments of Neurosurgery in Suhag, Tanta, and Al-Azhar Universities and Interventional Radiology, Ain Shams University. All the patients had varying degrees of progressive spastic paraparesis with and without sphincteric disturbances. Endovascular embolization was used in all cases. Fourteen were males, with ages ranging from 45 to 74 years old. After the treatment, good outcome was found in five patients (33.3%), a moderate outcome was delineated in six patients (40 %), and four patients revealed a poor outcome (26.7%). Spinal AVF could be treated safely and effectively by the endovascular approach. Generally, there is no correlation between the disappearance of MRI abnormalities and significant clinical improvement. The preclinical state of the patient is directly proportional to the clinical outcome. Due to unexpected responses, embolization should be attempted even the patient is in a bad clinical condition.

Keywords: spine, arteriovenous, fistula, endovascular, embolization

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Authors: Henry Kuppen

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In the last decade, tree managers have faced many threats of pests and diseases and the effects of climate change. Managers will recognize that they have to put more energy and more money into tree management. By recognizing the cause behind this, the opportunity will arise to build sustainable tree populations for the future. More and more, unwanted larvae are sprayed, ash dieback infected trees are pruned or felled, and emerald ash borer is knocking at the door of West Europe. A lot of specific knowledge is needed to produce management plans and best practices. If pest and disease have a large impact, society loses complete tree species and need to start all over again building urban forest. But looking at the cause behind it, landscape design, and tree species selection, the sustainable solution does not present itself in managing these threats. Every pest or disease needs two important basic ingredients to be successful: climate and food. The changing climate is helping several invasive pathogens to survive. Food is often designed by the landscapers and managers of the urban forest. Monocultures promote the success of pathogens. By looking more closely at the basics, tree managers will realise very soon that the solution will not be the management of pathogens. The long-term solution for sustainable tree populations is a different design of our urban landscape. The use of tree species diversity can help to reduce the impact of climate change and pathogens. Therefore landscapers need to be supported. They are the specialists in designing the landscape using design values like canopy volume, ecosystem services, and seasonal experience. It’s up to the species specialist to show what the opportunities are for different species that meet the desired interpretation of the landscape. Based on landscapers' criteria, selections can be made, including tree species related requirements. Through this collaboration and formation of integral teams, sustainable plant design will be possible.

Keywords: climate change, landscape design, resilient landscape, tree species selection

Procedia PDF Downloads 122

Authors: F. Bosca, F. Foglietta, F. Turci, E. Calcio Gaudino, S. Mana, F. Dosio, R. Canaparo, L. Serpe, A. Barge

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In recent years, medical science has improved chemotherapy, radiation therapy and adjuvant therapy and has developed newer targeted therapies as well as refining surgical techniques for removing cancer. However, the chances of surviving the disease depend greatly on the type and location of the cancer and the extent of the disease at the start of treatment. Moreover, mainstream forms of cancer treatment have side effects which range from the unpleasant to the fatal. Therefore, the continuation of progress in anti-cancer therapy may depend on placing emphasis on other existing but less thoroughly investigated therapeutic approaches such as Sonodynamic Therapy (SDT). SDT is based on the local activation of a so called 'sonosensitizer', a molecule able to be excited by ultrasound, the radical production as a consequence of its relaxation processes and cell death due to different mechanisms induced by radical production. The present work deals with synthesis, characterization and preliminary in vitro test of Single Walled Carbon Nanotubes (SWCNT) decorated with porphyrins and biological vectors. The SWCNT’s surface was modified exploiting 1, 3-dipolar cycloaddition or Dies Alder reactions. For this purpose, different porphyrins scaffolds were ad-hoc synthesized using also non-conventional techniques. To increase cellular specificity of porphyrin-conjugated SWCNTs and to improve their ability to be suspended in aqueous solution, the modified nano-tubes were grafted with suitable glutamine or hyaluronic acid derivatives. These nano-sized sonosensitizers were characterized by several methodologies and tested in vitro on different cancer cell lines.

Keywords: sonodynamic therapy, porphyrins synthesis and modification, SWNCT grafting, hyaluronic acid, anti-cancer treatment

Procedia PDF Downloads 387

Authors: Sangyeop Shin, D. C. M. Kulatunga, S. H. S. Dananjaya, Chamilani Nikapitiya, Jehee Lee, Mahanama De Zoysa

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Saprolegniasis is one of the most devastating fungal diseases in freshwater fish which is caused by species in the genus Saprolegnia including Saprolegnia parasitica. In this study, we isolated the strain of S. parasitica from diseased rainbow trout in Korea. Morphological and molecular based identification confirmed that isolated fungi belong to the member of S. parasitica, supported by its typical fungal features including cotton-like whitish mycelium, zoospores (primary and secondary) and phylogenetic analysis with internal transcribed spacer (ITS) region. Pathogenicity of isolated S. parasitica was developed in embryo, larvae, juvenile and adult zebrafish as a disease model. Up regulation of host genes encoding ZfTnf-α, Zfc-Rel, ZfIl-12, ZfLyz-c, Zfβ-def, and ZfHsp-70 was identified in zebrafish larvae after experimental challenge of S. parasitica showing the host immune responses against the S. parasitica. Survival of the juveniles upon fungal infection might be due to the increased immune protection in the host. Investigation of antifungal susceptibility of S. parasitica with natural lawsone (2-hydroxy-1,4-naphthoquinone) revealed the minimum inhibitory concentration (MIC) and percentage inhibition of radial growth (PIRG %) as 200 µg/mL and 31.8%, respectively. Lawsone was able to change the membrane permeability, and cause irreversible damage and disintegration to the cellular membranes of S. parasitica which might have effect on fungi growth inhibition. Moreover, the mycelium exposed to lawsone (MIC level) changed the transcriptional responses of S. parasitica genes. Overall results indicate that lawsone could be a potential and novel anti-S. parasitica agent for controlling S. parasitica infection.

Keywords: host-pathogen interactions, lawsone, rainbow trout, Saprolegnia parasitica, Saprolegniasis, zebrafish

Procedia PDF Downloads 247

Authors: B. Sadek, N. Khan, Shreesh K. Ojha, Adel Sadeq, D. Lazewska, K. Kiec-Kononowicz

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The involvement of Histamine H3 receptors (H3Rs) in memory and the potential role of H3R antagonists in pharmacological control of neurodegenerative disorders, e.g., Alzheimer disease (AD) is well established. Therefore, the memory-enhancing effects of the H3R antagonist DL77 on MK801-induced cognitive deficits were evaluated in passive avoidance paradigm (PAP) and novel object recognition (NOR) tasks in adult male rats, applying donepezil (DOZ) as a reference drug. Animals pretreated with acute systemic administration of DL77 (2.5, 5, and 10 mg/kg, i.p.) were significantly ameliorated in regard to MK801-induced memory deficits in PAP. The ameliorative effect of most effective dose of DL77 (5 mg/kg, i.p.) was abrogated when animals were pretreated with a co-injection with the H3R agonist R-(α)-methylhistamine (RAMH, 10 mg/kg, i.p.). Moreover, and in the NOR paradigm, DL77 (5 mg/kg, i.p.) reversed MK801-induced deficits long-term memory (LTM), and the DL77-provided procognitive effect was comparable to that of reference drug DOZ, and was reversed when animals were co-injected with RAMH (10 mg/kg, i.p.). However, DL77(5 mg/kg, i.p.) failed to alter short-term memory (STM) impairment in NOR test. Furthermore, DL77 (5 mg/kg) failed to induce any alterations of anxiety and locomotor behaviors of animals naive to elevated-plus maze (EPM), indicating that the ameliorative effects observed in PAP or NOR tests were not associated to alterations in emotions or in natural locomotion of tested animals. These results reveal the potential contribution of H3Rs in modulating CNS neurotransmission systems associated with neurodegenerative disorders, e.g., AD.

Keywords: histamine H3 receptor, antagonist, learning and memory, Alzheimer's disease, neurodegeneration, passive avoidance paradigm, novel object recognition, behavioral research

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Authors: Geumchan Hwang

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Professional sport leagues in Europe and North America are shut down due to novel coronavirus disease (COVID-19) outbreak. Football leagues in Europe (e.g., La Liga, English Premier League, Bundesliga, Serie A, and Ligue 1) and big four professional sport leagues in North America (e.g., National Football League, Major League Baseball, National Basketball Association, and National Hockey League) are indefinitely suspended or delayed. COVID-19 outbreak has a growing negative impact on economics of sport leagues. For example, loss of revenue in Europe’s top five leagues due to the COVID-19 pandemic was estimated at € 4 billion and loss of revenue in the NBA was estimated at $650 million as of March 2020. In the unprecedented difficult situation, sport teams and leagues try to communicate with sport fans through diverse media platforms. In sport, however, very few studies have been done regarding how sport organizations effectively communicate with sport fans during pandemics, such as COVID-19 outbreak. Understanding sport organizations’ crisis communication is important to develop effective crisis management strategies for sport organizations. Therefore, the purpose of the study is to examine how sport organizations communicate with sport fans via online platforms in COVID-19 outbreak and how sport fans evaluate their communication strategies. 9 official sport league sites (i.e., five major football leagues in Europe and four major sport leagues in North America) and COVID-19 news articles published between January and June in 2020 will be analyzed in terms of coronavirus information, teams and players’ live update, fan interaction, fan support, and community engagement. In addition, comments posted on social media sites (i.e., Facebook and Twitter) of major sport leagues will be also analyzed to examine how sport fans perceive online messages provided by sport leagues as an effective communication strategy. To measure the effectiveness of crisis communication performance, five components (i.e., prompt, compassionate, honest, informative, and interactive) of crisis communication will be collected from leagues’ official websites information and social media posts. Upon completing data collection, content analysis method will be used to evaluate effectiveness of crisis communication among 9 professional sport leagues. The results of the study will provide athletic directors, administrators, and public relations managers in sport organizations with practical information regarding how athlete celebrities and sport organizations should interact with their fans in pandemic situations. In particular, this study will contribute to developing specific crisis management plan for sport organizations. For instance, football teams and leagues in Europe will be able to create standard manuals to minimize damages caused by disease outbreak, such as COVID-19 outbreak.

Keywords: COVID-19, communication, sport leagues, fans

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Authors: Nunila Ferreira de Oliveira, Silvana Martins Mishima

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Diabetes mellitus type 2 (DM2) prevalence, is increasing on the world, in Brazil is considered a public health problem. Treatment focuses on glycemic control depending primarily of lifestyle changes - not drug treatment (NDT), may involve drug therapy (DT) and requires continuous health monitoring. In Brazil this monitoring is performed by the Unified Health System (SUS) through Primary Health Care (PHC), which stimulate people with DM2 empowerment for care management. SUS was approved in 1988 and the PHC operationalization was strengthened with the creation of the Family Health Strategy (FHS) in 1994. Our aim was to analyze the people with DM2 participation in front of the care management health monitoring in the FHS. Qualitative research was carried out through non-participant observation of attendance of 25 people with DM2 in the FHS and interviewed at home. Ethical guidelines were followed. It was found that people with DM2 only follow professionals’ recommendations that make sense according to their own conceptions of health/disease; most of them emphasize the importance of (DT) with little emphasis on the NDT, was found great difficulty in the NDT and lack of knowledge about the disease and care. As regards monitoring the FHS, were observed therapeutic practices based on the bio medical model, although the APS search for another care perspective; NDT is not systematically accompanied by the health team and takes place a few educational activities on the DM2 in the FHS, with low user adoption. The work of the FHS is done by multidisciplinary teams, but we see the need for greater participation of nurses in clinical-care follow-up of this population and may also act in adapting to the NDT. Finally we emphasize the need for professional practices that consider the difficulties to care management by people with DM2, especially because of the NDT. It is noticed that the measures recommended by the FHS professionals are not always developed by people with DM2. We must seek the empowerment of people with DM2 to manage the form of care associated with the FHS team, seeking to reduce the incidence of complications and higher quality of life.

Keywords: diabetes mellitus, primary health care, nursing, management of care

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Authors: Caroline F. Moeser

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The skin-gut axis defines the relationship between the intestinal microbiota and the development of pathological skin diseases. Low diversity within the gut can predispose to the development of allergic skin conditions, and a greater diversity of the gastrointestinal microflora has been associated with a reduction of skin flares in people with atopic dermatitis. Manipulation of the gut microflora has been used as a treatment option for several conditions in people, but there is limited data available on the use of faecal transplantation as a preventative measure in either people or dogs. Six, 4-month-old pups from a litter of ten were presented for diarrhea and/or signs of skin disease (chronic scratching, otitis externa). Of these pups, two were given probiotics with a resultant resolution of diarrhea. The other four pups were given faecal transplantation, either as a sole treatment or in combination with other treatments. Follow-up on the litter of ten pups was performed at 18 months of age. At this stage, the four pups that had received faecal transplantation had resolved all clinical signs and had no recurrence of either skin or gastrointestinal symptoms. Of the remaining six pups from the litter, all had developed at least one episode of Malassezia otitis externa within the period of 5 months to 18 months of age. Two pups had developed two Malassezia otitis infections, and one had developed three Malassezia otitis infections during this period. Favrot’s criteria for the diagnosis of canine atopic dermatitis include chronic or recurrent Malassezia infections by the age of three years. Early results from this litter predict a reduction in the development of canine atopic disease in dogs given faecal microbial transplantation. Follow-up studies at three years of age and within a larger population of dogs can enhance understanding of the impact of early faecal transplantation in the prevention of canine atopic dermatitis.

Keywords: canine atopic dermatitis, faecal microbial transplant, skin-gut axis, otitis

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Authors: Luiz Carlos Wrobel, Matjaz Hribersek, Jure Marn, Jurij Iljaz

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Dynamic thermography has been clinically proven to be a valuable diagnostic technique for skin tumor detection as well as for other medical applications such as breast cancer diagnostics, diagnostics of vascular diseases, fever screening, dermatological and other applications. Thermography for medical screening can be done in two different ways, observing the temperature response under steady-state conditions (passive or static thermography), and by inducing thermal stresses by cooling or heating the observed tissue and measuring the thermal response during the recovery phase (active or dynamic thermography). The numerical modelling of heat transfer phenomena in biological tissue during dynamic thermography can aid the technique by improving process parameters or by estimating unknown tissue parameters based on measured data. This paper presents a nonlinear numerical model of multilayer skin tissue containing a skin tumor, together with the thermoregulation response of the tissue during the cooling-rewarming processes of dynamic thermography. The model is based on the Pennes bioheat equation and solved numerically by using a subdomain boundary element method which treats the problem as axisymmetric. The paper includes computational tests and numerical results for Clark II and Clark IV tumors, comparing the models using constant and temperature-dependent thermophysical properties, which showed noticeable differences and highlighted the importance of using a local thermoregulation model.

Keywords: boundary element method, dynamic thermography, static thermography, skin tumor diagnostic

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Authors: N. Haj Salem, M. Belhadj, S. Ben Jomâa, S. Saadi, R. Dhouieb, A. Chadly

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Introduction: Sudden death in young is seen as a dramatic phenomenon requiring knowledge of its impact and determining their causes. Aim: We aim to study the epidemiological characteristics of sudden death in young, and to discuss the mechanism and the importance of autopsy in these situations. Material and methods: We performed a retrospective cohort study using autopsy data from the department of forensic medicine at the University Hospital of Fattouma Bourguiba, Monastir-Tunisia. A review of all autopsies performed during 23 years was done. In each case, clinical information and circumstances of death were obtained. We have included all sudden death in persons aged between 1 year and 35 years for the male and from one year to 45 years for female. We collected 312 cases of sudden death during the studied period. The collected data were processed using SPSS 20. The significance level was set at 0.05. Results: Thirty-two cases of cardiac ischemic sudden death have been collected. Myocardial infarction was the second cause of sudden death in young patients. There was a male predominance. The most affected subjects were aged between 25-45 years. The death occurred more frequently at rest. Coronary artery disease has been discovered in twenty-four cases (75%). A severe coronary artery disease was observed in two children with medical history of familial hypercholesterolemia. The myocardial infarction occurred in healthy coronary arteries in eight cases. An anomalous course of coronary arteries, in particular, myocardial bridging, was found in eight cases (25%). Toxicological screening was negative in all cases. Second cause of death was hypertrophic cardiomyopathy. Neurological and respiratory causes of death were implicated respectively in 10% and 15%. Conclusion: Identifying epidemiological characteristics of sudden death in this population is important for guiding approaches to prevention that must be based on dietary hygienic measures and the control of cardiovascular risk factors.

Keywords: autopsy, cardiac death, sudden death, young

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Authors: Mthokozisi Simelane

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Background: Malaria remains a life-threatening disease in tropical regions despite the advances in the treatment of this disease, it still remains a significant burden as some parasites have become resistant to the currently available drugs. This has created a necessity for the development of alternative, more efficient antimalarial drugs. Warburgia salutaris is a traditional medicinal plant used in malaria treatment by Zulu traditional healers. Materials and methods: The W. salutaris stem-bark was extracted with dichloromethane and the compound was isolated through column chromatography. The compound was identified and characterized by spectroscopic analysis (1H NMR, 13C NMR, IR and MS) and the structure was also confirmed by x-ray crystallography. The anti-plasmodial activity (in vitro) was studied on NF54 Plasmodium falciparum strain (CQS). Cytotoxicity was measured using the MTT assay on HEK239 and HEPG2 cell lines. Docking of Mukaadial acetate was conducted in AutoDock Vina. Structural modifications were conducted in UCSF Chimera and molecular interactions examined in LigPlot. Results: The compound, Mukaadial Acetate showed appreciable inhibition (IC50 0.44±0.10 µg/ml) of the parasite growth and cytotoxicity activity of 0.124±0.109 and 0.199±0.083 (µg/ml) on HEK293 and HEPG2 cells respectively. Molecular docking revealed that Mukaadial Acetate binds to the purine, pyrophosphate and ribose binding sites of the PfHGXPRT with an optimum binding conformation and forms hydrogen bond, steric and hydrophobic interactions with the residues inhabiting the respective binding sites. Conclusion: It is apparent that W. salutaris contains components (including Mukaadial Acetate) that exhibit antimalarial activity. This study scientifically validates the use of this plant in folk medicine.

Keywords: plasmodium falciparum, molecular docking, antimalarial activity, PfHGXPRT, Warburgia salutaris, mukaadial acetate

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Authors: Jungkyun Im

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Nonsteroidal anti-inflammatory drugs (NSAIDs) are effective for relieving pain and reducing inflammation. They are nonselective inhibitors of two isoforms of COX, cyclooxygenase-1 (COX-1) and cyclooxygenase-2 (COX-2), and thereby inhibiting the production of hormone-like lipid compounds such as, prostaglandins and thromboxanes which cause inflammation, pain, fever, platelet aggregation, etc. In addition, recently there are many research articles reporting the neuroprotective effect of NSAIDs in neurodegenerative diseases, such as Alzheimer’s disease (AD) and Parkinson’s disease (PD). However, the clinical use of NSAIDs in these diseases is limited by low brain distribution. Therefore, in order to assist the in-depth investigation on the pharmaceutical mechanism of flurbiprofen in neuroprotection and to make flurbiprofen a more potent drug to prevent or alleviate neurodegenerative diseases, delivery of flurbiprofen to brain should be effective and sufficient amount of flurbiprofen must penetrate the BBB thus gaining access into the patient’s brain. We have recently developed several types of guanidine-rich molecular carriers with high molecular weights and good water solubility that readily cross the blood-brain barrier (BBB) and display efficient distributions in the mouse brain. The G8 (having eight guanidine groups) molecular carrier based on D-sorbitol was found to be very effective in delivering anticancer drugs to a mouse brain. In the present study, employing the same molecular carrier, we prepared the flurbiprofen conjugate and studied its BBB permeation by mouse tissue distribution study. Flurbiprofen was attached to a molecular carrier with a fluorescein probe and multiple terminal guanidiniums. The conjugate was found to internalize into live cells and readily cross the BBB to enter the mouse brain. Our novel synthetic flurbiprofen conjugate will hopefully delivery NSAIDs into brain, and is therefore applicable to the neurodegenerative diseases treatment or prevention.

Keywords: flurbiprofen, drug delivery, molecular carrier, organic synthesis

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Authors: Chaomeng Liu, Li Li, Xiao Wang, Li Ren, Qinge Zhang

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Late-life depression (LLD) is a prevalent mental disorder among the elderly, frequently accompanied by significant cognitive decline, and has emerged as a worldwide public health concern. Microglia, astrocytes, and peripheral immune cells play pivotal roles in regulating inflammatory responses within the central nervous system (CNS) across diverse cerebral disorders. This review commences with the clinical research findings and accentuates the recent advancements pertaining to microglia and astrocytes in the neuroinflammation process of LLD. The reciprocal communication network between the CNS and immune system is of paramount importance in the pathogenesis of depression and cognitive decline. Stress-induced downregulation of tight and gap junction proteins in the brain results in increased blood-brain barrier permeability and impaired astrocyte function. Concurrently, activated microglia release inflammatory mediators, initiating the kynurenine metabolic pathway and exacerbating the quinolinic acid/kynurenic acid imbalance. Moreover, the balance between Th17 and Treg cells is implicated in the preservation of immune homeostasis within the cerebral milieu of individuals suffering from LLD. The ultimate objective of this review is to present future strategies for the management and treatment of LLD, informed by the most recent advancements in research, with the aim of averting or postponing the onset of AD.

Keywords: neuroinflammation, late-life depression, microglia, astrocytes, central nervous system, blood-brain barrier, Kynurenine pathway

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Authors: P. Tardi, B. Szilagyi, A. Makai, P. Acs, M. Hock, M. Jaromi

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Osteoporosis is becoming a major public health problem, particularly in postmenopausal women, as the incidence of this disease is getting higher. Nowadays, one of the most common chronic musculoskeletal diseases is osteoporosis. Osteoporosis-related knowledge is an important contributor to prevent or to treat osteoporosis. The most important strategies to prevent or treat the disease are increasing the level of physical activity at all ages, cessation of smoking, reduction of alcohol consumption, adequate dietary calcium, and vitamin D intake. The aim of the study was to measure the osteoporosis-related knowledge and physical activity among women age over 50 years. For the measurements, we used the osteoporosis questionnaire (OPQ) to examine the disease-specific knowledge and the global physical activity questionnaire (GPAQ) to measure the quantity and quality of the physical activity. The OPQ is a self-administered 20-item questionnaire with five categories: general information, risk factors, investigations, consequences, and treatment. There are four choices per question (one of them is the 'I do not know'). The filler gets +1 for a good answer, -1 point for a bad answer, and 0 for 'I do not know' answer. We contacted with 326 women (63.08 ± 9.36 year) to fill out the questionnaires. Descriptive analysis was carried out, and we calculated Spearman's correlation coefficient to examine the relationship between the variables. Data were entered into Microsoft Excel, and all statistical analyses were performed using SPSS (Version 24). The participants of the study (n=326) reached 8.76 ± 6.94 points on OPQ. Significant (p < 0.001) differences were found in the results of OPQ according to the highest level of education. It was observed that the score of the participants with osteoporosis (10.07 ± 6.82 points) was significantly (p=0.003) higher than participants without osteoporosis (9.38 ± 6.66 points) and the score of those women (6.49 ± 6.97 points) who did not know that osteoporosis exists in their case. The GPAQ results showed the sample physical activity in the dimensions of vigorous work (479.86 ± 684.02 min/week); moderate work (678.16 ± 804.5 min/week); travel (262.83 ± 380.27 min/week); vigorous recreation (77.71 ± 123.46 min/week); moderate recreation (115.15 ± 154.82 min/week) and total weekly physical activity (1645.99 ± 1432.88 min/week). Significant correlations were found between the osteoporosis-related knowledge and the physical activity in travel (R=0.21; p < 0.001), vigorous recreation (R=0.35; p < 0.001), moderate recreation (R=0.35; p < 0.001), total vigorous minutes/week (R=0.15; p=0.001) and total moderate minutes/week (R=0.13; p=0.04) dimensions. According to the results that were achieved, the highest level of education significantly determines osteoporosis-related knowledge. Physical activity is an important contributor to prevent or to treat osteoporosis, and it showed a significant correlation with osteoporosis-related knowledge. Based on the results, the development of osteoporosis-related knowledge may help to improve the level of physical activity, especially recreation. Acknowledgment: Supported by the ÚNKP-20-1 New National Excellence Program of The Ministry for Innovation and Technology from the Source of the National Research, Development and Innovation Fund.

Keywords: osteoporosis, osteoporosis-related knowledge, physical activity, prevention

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Authors: Anjani Kumar Tiwari, Neelam Kumari, Anil Mishra

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The 18-kDa translocator protein (TSPO) previously called as peripheral benzodiazepine receptor, is proven biomarker for variety of neuroinflammation. TSPO is tryptophane rich five transmembranal protein found on outer mitochondrial membrane of steroid synthesising and immunomodulatory cells. In case of neuronal damage or inflammation the expression level of TSPO get upregulated as an immunomodulatory response. By utilizing Benzoxazolone as a basic scaffold, series of TSPO ligands have been designed followed by their screening through in silico studies. Synthesis has been planned by employing convergent methodology in six high yielding steps. For the synthesized ligands the ‘in vitro’ assay was performed to determine the binding affinity in term of Ki. On ischemic rat brain, autoradiography studies were also carried to check the specificity and affinity of the designed radiolabelled ligand for TSPO.Screening was performed on the basis of GScore of CADD based schrodinger software. All the modified and better prospective compound were successfully carried out and characterized by spectroscopic techniques (FTIR, NMR and HRMS). In vitro binding assay showed best binding affinity Ki = 6.1+ 0.3 for TSPO over central benzodiazepine receptor (CBR) Ki > 200. ARG studies indicated higher uptake of two analogues on the lesion side compared with that on the non-lesion side of ischemic rat brains. Displacement experiments with unlabelled ligand had minimized the difference in uptake between the two sides which indicates the specificity of the ligand towards TSPO receptor.

Keywords: TSPO, PET, imaging, Acetamidobenzoxazolone

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Authors: Tomás Sobrino, Lara García-Varela, Marta Aramburu-Núñez, Mónica Castro, Noemí Gómez-Lado, Mariña Rodríguez-Arrizabalaga, Antía Custodia, Juan Manuel Pías-Peleteiro, José Manuel Aldrey, Daniel Romaus-Sanjurjo, Ángeles Almeida, Pablo Aguiar, Alberto Ouro

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Introduction: Alzheimer’s disease (AD) and other tauopathies are primary causes of dementia, causing progressive cognitive deterioration that entails serious repercussions for the patients' performance of daily tasks. Currently, there is no effective approach for the early diagnosis and treatment of AD and tauopathies. This study suggests a theragnostic approach based on the importance of phosphorylated tau protein (p-Tau) in the early pathophysiological processes of AD. We have developed a novel theragnostic monoclonal antibody (mAb) to provide both diagnostic and therapeutic effects. Methods/Results: We have developed a p-Tau mAb, which was doped with deferoxamine for radiolabeling with Zirconium-89 (89Zr) for PET imaging, as well as fluorescence dies for immunofluorescence assays. The p-Tau mAb was evaluated in vitro for toxicity by MTT assay, LDH activity, propidium iodide/Annexin V assay, caspase-3, and mitochondrial membrane potential (MMP) assay in both mouse endothelial cell line (bEnd.3) and cortical primary neurons cell cultures. Importantly, non-toxic effects (up to concentrations of p-Tau mAb greater than 100 ug/mL) were detected. In vivo experiments in the tauopathy model mice (PS19) show that the 89Zr-pTau-mAb and 89Zr-Fragments-pTau-mAb are stable in circulation for up to 10 days without toxic effects. However, only less than 0.2% reached the brain, so further strategies have to be designed for crossing the Brain-Blood-Barrier (BBB). Moreover, an intraparenchymal treatment strategy was carried out. The PS19 mice were operated to implement osmotic pumps (Alzet 1004) at two different times, at 4 and 7 months, to stimulate the controlled release for one month each of the B6 antibody or the IgG1 control antibody. We demonstrated that B6-treated mice maintained their motor and memory abilities significantly compared with IgG1 treatment. In addition, we observed a significant reduction in p-Tau deposits in the brain. Conclusions /Discussion: A theragnostic pTau-mAb was developed. Moreover, we demonstrated that our p-Tau mAb recognizes very-early pathology forms of p-Tau by non-invasive techniques, such as PET. In addition, p-Tau mAb has non-toxic effects, both in vitro and in vivo. Although the p-Tau mAb is stable in circulation, only 0.2% achieve the brain. However, direct intraventricular treatment significantly reduces cognitive impairment in Alzheimer's animal models, as well as the accumulation of toxic p-Tau species.

Keywords: alzheimer's disease, theragnosis, tau, PET, immunotherapy, tauopathies

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Authors: Usha S. Adiga, Sachidanada Adiga

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Introduction: Diabetes Mellitus (DM) is one of the most common non-communicable diseases which imposes a large economic burden on the global health-care system. Cost of illness studies in India have assessed the health care cost of DM, but have certain limitations due to lack of standardization of the methods used, improper documentation of data, lack of follow up, etc. The objective of the study was to estimate the cost of illness of uncomplicated versus complicated type 2 diabetes mellitus in Coastal Karnataka, India. The study also aimed to find out the trend of cost of illness of the disease over a decade. Methodology: A prevalence based bottom-up approach study was carried out in two tertiary care hospitals located in Coastal Karnataka after ethical approval. Direct Medical costs like annual laboratory costs, pharmacy cost, consultation charges, hospital bed charges, surgical /intervention costs of 238 diabetics and 340 diabetic patients respectively from two hospitals were obtained from the medical record sections. Patients were divided into six groups, uncomplicated diabetes, diabetic retinopathy(DR), nephropathy(DN), neuropathy(DNeu), diabetic foot(DF), and ischemic heart disease (IHD). Different costs incurred in 2008 and 2017 in these groups were compared, to study the trend of cost of illness. Kruskal Wallis test followed by Dunn’s test were used to compare median costs between the groups and Spearman's correlation test was used for correlation studies. Results: Uncomplicated patients had significantly lower costs (p <0.0001) compared to other groups. Patients with IHD had highest Medical expenses (p < 0.0001), followed by DN and DF (p < 0.0001 ). Annual medical costs incurred were 1.8, 2.76, 2.77, 1.76, and 4.34 times higher in retinopathy, nephropathy, diabetic foot, neuropathy and IHD patients as compared to the cost incurred in managing uncomplicated diabetics. Other costs also showed a similar pattern of rising. A positive correlation was observed between the costs incurred and duration of diabetes, a negative correlation between the glycemic status and cost incurred. The cost incurred in the management of DM in 2017 was found to be elevated 1.4 - 2.7 times when compared to that in 2008. Conclusion: It is evident from the study that the economic burden due to diabetes mellitus is substantial. It poses a significant financial burden on the healthcare system, individual and society as a whole. There is a need for the strategies to achieve optimal glycemic control and operationalize regular and early screening methods for complications so as to reduce the burden of the disease.

Keywords: COI, diabetes mellitus, a bottom up approach, economics

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Authors: Orapan Thosingha, Tassana Boontong, Prapa Yuttatri, Vilaivan Thongcharoen, Soparn Potaya, Mattika Chaichan, Chanin Chakkrapopyodhin, Khwanthida Phimphakarn, Taddao Nabnean

Abstract:

This research aimed to explore symptom experiences among Thai adults with chronic illnesses living in an urban community area of Bangkok. The sample was 670 adults with ages ranging from 20-59 years. The majority of them (65.2%) had more than one disease. Hypertension, dyslipidemia, and diabetes were the first three diseases among them. About 58% were female, and 51.1 % stayed with their couples. The studied sample had relatively low socioeconomic status; 33.7% were wage workers, 15.2% were street vendors, and 10.4% were unemployed. About 54 % had family incomes less than 10,000 baht (300 US Dollars) per month, and 41.6% addressed that their incomes were not adequate for daily living. Although the majority of them (63.7%) did not have to pay for hospital visits, they still had to pay for public transportation and could not earn a wage or any income on the hospital visit day. The first three physical symptoms they experienced were knee pain (60.5%) due to being overweight, headache (47.0%), and insomnia (44.6%). About 45% stated that their incomes decreased after having chronic illnesses and 37.2% expressed that having lower incomes affected their living, 34.5% perceived being a burden, and 34.3% regret about depending on others. It can be concluded that adults with low socioeconomic status who experienced chronic illnesses and resided in an urban community area had complex needs. While caring for them, nurses should pay attention not only to a disease-related domain but also to a social-related domain. Reached-out clinics led by professional nurses who are well-prepared for primary medical care and home visit are strongly recommended. National Health Security Office should adopt this policy and develop an action plan to serve the needs of chronically ill adults with low socioeconomic status.

Keywords: chronic illnesses, urban community, socioeconomic status, symptom experiences, low incomes

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Authors: Adrian Hang Yue Siu, Matthew Holyland, Sharon Carey, Daniel Steffens, Nabila Ansari, Cherry E. Koh

Abstract:

Introduction: Peritoneal malignancies are challenging cancers to manage. While cytoreductive surgery and hyperthermic intraperitoneal chemotherapy (CRS and HIPEC) may offer a cure, it’s considered radical and morbid. Pre-emptive identification of deconditioned patients for optimization may mitigate the risks of surgery. However, the difficulty lies in the scarcity of validated predictive tools to identify high-risk patients. In recent times, there has been growing interest in sarcopenia, which can occur as a result of malnutrition and malignancies. Therefore, the purpose of this study was to assess the utility of sarcopenia in predicting post-operative outcomes. Methods: A single quaternary-center retrospective study of CRS and HIPEC patients between 2017-2020 was conducted to determine the association between pre-operative sarcopenia and post-operative outcomes. Lumbar CT images were analyzed using Slice-o-matic® to measure sarcopenia. Results : Cohort (n=94) analysis found that 40% had sarcopenia, with a majority being female (53.2%) and a mean age of 55 years. Sarcopenia was statistically associated with decreased weight compared to non-sarcopenia patients, 72.7kg vs. 82.2kg (p=0.014) and shorter overall survival, 1.4 years vs. 2.1 years (p=0.032). Post-operatively, patients with sarcopenia experienced more post-operative complications (p=0.001). Conclusion: Complex procedures often require optimization to prevent complications and improve survival. While patient biomarkers – BMI and weight – are used for optimization, this research advocates for the identification of sarcopenia status for pre-operative planning. Sarcopenia may be an indicator of advanced disease requiring further treatment and is an emerging area of research. Larger studies are required to confirm these findings and to assess the reversibility of sarcopenia after surgery.

Keywords: sarcopaenia, cytoreductive surgery, hyperthermic intraperitoneal chemotherapy, surgical oncology

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Authors: Parth Gupta, Ujjawal Singh, Shashank Kumar, Mansi Chandra, Arnab Sarkar

Abstract:

Microfluidic devices have emerged as indispensable tools across various scientific disciplines, offering precise control and manipulation of fluids at the microscale. Their efficacy in flow-based research, spanning engineering, chemistry, and biology, relies heavily on the geometric design of microfluidic channels. This work introduces a novel approach to optimise these channels through Response Surface Methodology (RSM), departing from the conventional practice of addressing one parameter at a time. Traditionally, optimising microfluidic channels involved isolated adjustments to individual parameters, limiting the comprehensive understanding of their combined effects. In contrast, our approach considers the simultaneous impact of multiple parameters, employing RSM to efficiently explore the complex design space. The outcome is an innovative microfluidic channel that consumes an optimal sample volume and minimises flow time, enhancing overall efficiency. The relevance of geometric parameter optimization in microfluidic channels extends significantly in biomedical engineering. The flow characteristics of porous materials within these channels depend on many factors, including fluid viscosity, environmental conditions (such as temperature and humidity), and specific design parameters like sample volume, channel width, channel length, and substrate porosity. This intricate interplay directly influences the performance and efficacy of microfluidic devices, which, if not optimized, can lead to increased costs and errors in disease testing and analysis. In the context of biomedical applications, the proposed approach addresses the critical need for precision in fluid flow. it mitigate manufacturing costs associated with trial-and-error methodologies by optimising multiple geometric parameters concurrently. The resulting microfluidic channels offer enhanced performance and contribute to a streamlined, cost-effective process for testing and analyzing diseases. A key highlight of our methodology is its consideration of the interconnected nature of geometric parameters. For instance, the volume of the sample, when optimized alongside channel width, length, and substrate porosity, creates a synergistic effect that minimizes errors and maximizes efficiency. This holistic optimization approach ensures that microfluidic devices operate at their peak performance, delivering reliable results in disease testing. A key highlight of our methodology is its consideration of the interconnected nature of geometric parameters. For instance, the volume of the sample, when optimized alongside channel width, length, and substrate porosity, creates a synergistic effect that minimizes errors and maximizes efficiency. This holistic optimization approach ensures that microfluidic devices operate at their peak performance, delivering reliable results in disease testing. A key highlight of our methodology is its consideration of the interconnected nature of geometric parameters. For instance, the volume of the sample, when optimized alongside channel width, length, and substrate porosity, creates a synergistic effect that minimizes errors and maximizes efficiency. This holistic optimization approach ensures that microfluidic devices operate at their peak performance, delivering reliable results in disease testing.

Keywords: microfluidic device, minitab, statistical optimization, response surface methodology

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Authors: Jafar Ahmadi, Zhohreh Asiaban, Sedigheh Fabriki Ourang

Abstract:

Brassinosteroids (BRs) regulate cell elongation, vascular differentiation, senescence and stress responses. BRs signal through the BES1/BZR1 family of transcription factors, which regulate hundreds of target genes involved in this pathway. In this research a comprehensive genome-wide analysis was carried out in BES1/BZR1 gene family in Arabidopsis thaliana, Cucumis sativus, Vitis vinifera, Glycin max, and Brachypodium distachyon. Specifications of the desired sequences, dot plot and hydropathy plot were analyzed in the protein and genome sequences of five plant species. The maximum amino acid length was attributed to protein sequence Brdic3g with 374aa and the minimum amino acid length was attributed to protein sequence Gm7g with 163aa. The maximum Instability index was attributed to protein sequence AT1G19350 equal with 79.99 and the minimum Instability index was attributed to protein sequence Gm5g equal with 33.22. Aliphatic index of these protein sequences ranged from 47.82 to 78.79 in Arabidopsis thaliana, 49.91 to 57.50 in Vitis vinifera, 55.09 to 82.43 in Glycin max, 54.09 to 54.28 in Brachypodium distachyon 55.36 to 56.83 in Cucumis sativus. Overall, data obtained from our investigation contributes a better understanding of the complexity of the BES1/BZR1 gene family and provides the first step towards directing future experimental designs to perform systematic analysis of the functions of the BES1/BZR1 gene family.

Keywords: BES1/BZR1, brassinosteroids, phylogenetic analysis, transcription factor

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Authors: Muhammad Shahbaz Akhtar

Abstract:

Background; Tuberculosis remains a significant public health challenge in Pakistan, with high incidence and prevalence rates, particularly among vulnerable populations. Addressing the TB burden requires comprehensive efforts to improve healthcare infrastructure, increase access to quality diagnosis and treatment services, raise public awareness, and address socioeconomic determinants of health. Objective; To assess the knowledge and practices of healthcare workers and patients regarding prevention of tuberculosis at a tertiary care hospital of Southern Punjab.Material and methods; Data will be collected from 135 healthcare workers and 135 TB patients visiting Nishtar Hospital, Multan in this descriptive cross – sectional study using non – probability consecutive sampling technique. Proper approval will be taken from Hospital authorities to conduct this study. Study participants will be recruited after taking informed written consent, describing them objectives of this study. The study participants will be ensured of their confidentiality of the data and interviewed to assess their knowledge and practices regarding prevention of tuberculosis. Data Analysis Procedure; Data will be entered and analyzed by using SPSS version 25 to calculated mean and standard deviation for the numerical data such as age, duration of disease and duration of experience. Frequencies and percentages will be calculated for gender, age groups, level of knowledge, qualification, designation and practices. Impact of confounders like gender, age groups, duration of experience, disease duration, years of experience and designation will be assessed by stratification. Post stratification chi – square test will be applied at 0.05 level of significance at 95 % CI.

Keywords: tuberculosis, data analysis, HIV/AIDS, preventable

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Authors: Cecilia Amponsem-Boateng, Timothy Bonney Oppongx, Weidong Zhang, Jonathan Boakye Yiadom, Lianke Wang, Kwabena Acheampong, Godfrey Opolot

Abstract:

In Ghana, the management of hypertension in primary health care is a cost-effective way of addressing premature deaths from vascular disorders that include hypertension. There is little or no evidence of large-scale studies on the prevalence, risk, and knowledge/awareness of hypertension in students aged 12–22 years in Ghana. In a cross-sectional study, blood pressure, anthropometric indices, and knowledge/awareness assessment of students at second-cycle schools were recorded from 2018 to 2020 in three regions of Ghana. Multistage cluster sampling was used in selecting regions and the schools. Prevalence of prehypertension and hypertension was categorized by the Joint National Committee 7, where appropriate, chi-square, scatter plots, and correlations were used in showing associations. A total of 3165 students comprising 1776 (56.1%) females and 1389 (43.9%) males participated in this study within three regions of Ghana. The minimum age was 12 years and the maximum age was 22 years. The mean age was 17.21 with standard deviation (SD: 1.59) years. A 95% confidence interval was set for estimations and a P value < 0.05 was set as significant. The prevalence rate of overall hypertension was 19.91% and elevated (prehypertension) was 26.07%. Risk indicators such as weight, BMI, waist circumference, physical activity, and form of the diet were positively correlated with hypertension. Among Ghanaian students currently in second-cycle educational institutions, 19.91% were hypertensive and 26.07% were prehypertensive. This may indicate a probable high prevalence of hypertension in the future adult population if measures are not taken to curb the associated risks.

Keywords: hypertension, second-cycle schools, Ghana, youth

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Authors: Amber Shahi, Ayesha Tazeen, Abdus Samad, Shama Parveen

Abstract:

Nanoparticles (NPs) are tiny particles. According to the International Organization for Standardization, the size range of NPs is in the nanometer range (1-100 nm). They show distinct properties that are not shown by larger particles of the same material. NPs are currently being used in different fields due to their unique physicochemical nature. NPs are a boon for medical sciences, environmental sciences, electronics, and textile industries. However, there is growing concern about their potential adverse effects on human health. This poster presents a comprehensive review of the current literature on the pros and cons of NPs on human health. The poster will discuss the various types of interactions of NPs with biological systems. There are a number of beneficial uses of NPs in the field of health and environmental welfare. NPs are very useful in disease diagnosis, antimicrobial action, and the treatment of diseases like Alzheimer’s. They can also cross the blood-brain barrier, making them capable of treating brain diseases. Additionally, NPs can target specific tumors and be used for cancer treatment. To treat environmental health, NPs also act as catalytic converters to reduce pollution from the environment. On the other hand, NPs also have some negative impacts on the human body, such as being cytotoxic and genotoxic. They can also affect the reproductive system, such as the testis and ovary, and sexual behavior. The poster will further discuss the routes of exposure of NPs. The poster will conclude with a discussion of the current regulations and guidelines on the use of NPs in various applications. It will highlight the need for further research and the development of standardized toxicity testing methods to ensure the safe use of NPs in various applications. When using NPs in diagnosis and treatment, we should also take into consideration their safe concentration in the body. Overall, this poster aims to provide a comprehensive overview of the pros and cons of NPs on human health and to promote awareness and understanding of the potential risks and benefits associated with their use.

Keywords: disease diagnosis, human health, nanoparticles, toxicity testing

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Authors: Paresh Patel, Harshit Patel

Abstract:

Superficial fungal skin infection is among the most common skin disease. The drug administration through skin has received attention due to several advantages: Avoidance of significant pre-systemic metabolism, drug levels within the therapeutic window, drugs with short biological half-lives, decreased side effects, the non-invasive character, and very high acceptance.

Keywords: transdermal spray, ketoconazole, Eudragit® RLPO, therapeutic window

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Authors: Jiahui Song

Abstract:

There have been decades of research into the action potential block in nerves. To our best knowledge electrical voltages can reversibly block the conduction of action potentials across whole animal nerves. Blocking biological electrical signaling pathways can have a variety of applications in muscular and sensory incapacitation and clinical research, including urethral pressure reduction and relieving chronic pain relief from a peripheral nerve injury. The cessation ability has been used in muscle activation and fatigue reduction. Ultrashort, high-intensity electric pulses modulate the membrane conductivity to block nerve conduction through the electroporation process. Nanopore formation on the membrane surface would increase the local membrane conductivity and effectively "short-out" the trans-membrane potential of a nerve that inhibits action potential propagation. This block would be similar in concept to stopping the propagation of an air-pressure wave down a "leaky" pipe. This research focuses on a distributed electrical model with an additional time-dependent membrane conductance to calculate the poration induced by the ultrashort, high-intensity electric pulses. The changes in membrane conductivity are used to predict changes in action potential transmission. A "strength-duration (SD)" curve is generated for action potential blockage and would be used as a design guide for benchmarking safety thresholds or setting the pulse voltage and/or durations necessary for neuro-muscular incapacitation.

Keywords: action potential, ultrashort, high-intensity, nerve, strength-duration

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Authors: Jesmin Akter, Chang Hyuk Ahn, Ilho Kim, Jaiyeop Lee

Abstract:

Global pandemic coronavirus disease (COVID-19) caused by Severe acute respiratory syndrome SARS-CoV-2, to control the spread of the COVID-19 pandemic, wastewater surveillance has been used to monitor SARS-CoV2 prevalence in the community. The challenging part is establishing wastewater surveillance; there is a need for a well-equipped laboratory for wastewater sample analysis. According to many previous studies, reverse transcription-polymerase chain reaction (RT-PCR) based molecular tests are the most widely used and popular detection method worldwide. However, the RT-qPCR based approaches for the detection or quantification of SARS-CoV-2 genetic fragments ribonucleic acid (RNA) from wastewater require a specialized laboratory, skilled personnel, expensive instruments, and a workflow that typically requires 6 to 8 hours to provide results for just minimum samples. Rapid and reliable alternative detection methods are needed to enable less-well-qualified practitioners to set up and provide sensitive detection of SARS-CoV-2 within wastewater at less-specialized regional laboratories. Therefore, scientists and researchers are conducting experiments for rapid detection methods of COVID-19; in some cases, the structural and molecular characteristics of SARS-CoV-2 are unknown, and various strategies for the correct diagnosis of COVID-19 have been proposed by research laboratories, which are presented in the present study. The ongoing research and development of these highly sensitive and rapid technologies, namely RT-LAMP, ELISA, Biosensors, GeneXpert, allows a wide range of potential options not only for SARS-CoV-2 detection but also for other viruses as well. The effort of this study is to discuss the above effective and regional rapid detection and quantification methods in community wastewater as an essential step in advancing scientific goals.

Keywords: rapid detection, SARS-CoV-2, sensitive detection, wastewater surveillance

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Authors: Frikha Rim, Abdelmoula Bouayed Nouha, Rebai Tarek

Abstract:

Pregnancy is a hypercoagulable state which causing a defective maternal haemostatic response and leading to thrombosis of the uteroplacental vasculature, that might cause pregnancy complications as recurrent pregnancy loss (RPL). Since heritable Thrombophilic defects are associated with increased thrombosis, their prevalence was evaluated in patients with special emphasis on combinations of the above pathologies. Especially, Factor V Leiden (FVL) G1691A, methylene tetra hydro folate reductase (MTHFR) C677T, and factor II (FII) G20210A mutations are three important causes of thrombophilia, which might be related to recurrent pregnancy loss (RPL). In this study we evaluated the presence of these three mutations [factor V Leiden (FVL), prothrombin G20210A (PTG) and methylenetetrahydrofolate reductase (MTHFR) C677T] amongst 35 Tunisian women with more than 2 miscarriages, referred to our genetic counseling. DNA was extracted from peripheral blood samples and PCR-RFLP was performed for the molecular diagnosis of each mutation. Factor V Leiden and Prothrombin mutation were detected respectively in 5.7% and 2.9% of women with particular history of early fetal loss and thrombotic events. Despites the luck of strength of this study, we insist that testing for the most inherited thrombophilia (FVL and FII mutation) should be performed in women with RPL in the context of thrombotic events. Multi-centre collaboration is necessary to clarify the real impact of thrombotic molecular defects on the pregnancy outcome, to ascertain the effect of thrombophilia on recurrent pregnancy loss and then to evaluate the appropriate therapeutic approach.

Keywords: thrombophilia, recurrent pregnancy loss, factor V Leiden, prothrombin G20210A, methylene tetra hydro folate reductase

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Authors: Jianhua Zhang, Weiping Chen, Guanjie Chen, Jason Flannick, Emma Fikse, Glenda Smerin, Yanqin Yang, Yulong Li, John A. Hanover, William F. Simonds

Abstract:

Ethnic disparities in many diseases are well recognized and reflect the consequences of genetic, behavior, and environmental factors. However, direct scientific evidence connecting the ethnic genetic variations and the disease disparities has been elusive, which may have led to the ethnic inequalities in large scale genetic studies. Through the genome-wide analysis of data representing 185,934 subjects, including 14,955 from our own studies of the African America Diabetes Mellitus, we discovered sets of genetic variants either unique to or conserved in all ethnicities. We further developed a quantitative gene function-based high-risk variant index (hrVI) of 20,428 genes to establish profiles that strongly correlate with the subjects' self-identified ethnicities. With respect to the ability to detect human essential and pathogenic genes, the hrVI analysis method is both comparable with and complementary to the well-known genetic analysis methods, pLI and VIRlof. Application of the ethnicity-specific hrVI analysis to the type 2 diabetes mellitus (T2DM) national repository, containing 20,791 cases and 24,440 controls, identified 114 candidate T2DM-associated genes, 8.8-fold greater than that of ethnicity-blind analysis. All the genes identified are defined as either pathogenic or likely-pathogenic in ClinVar database, with 33.3% diabetes-associated and 54.4% obesity-associated genes. These results demonstrate the utility of hrVI analysis and provide the first genetic evidence by clustering patterns of how genetic variations among ethnicities may impede the discovery of diabetes and foreseeably other disease-associated genes.

Keywords: diabetes-associated genes, ethnic health disparities, high-risk variant index, hrVI, T2DM

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Authors: Ogbonnaya O. Iroanya, Samson T. Fakorede, Osamudiamen J. Edosa, Hadiat A. Azeez

Abstract:

The human mitochondrial DNA (mtDNA) is about 17 kbp circular DNA fragments found within the mitochondria together with smaller fragments of 1200 bp known as the control region. Knowledge of variation within populations has been employed in forensic and molecular anthropology studies. The study was aimed at investigating the polymorphic nature of the two hypervariable segments (HVS) of the mtDNA, i.e., HVS1 and HVS2, and to determine the haplogroup distribution among individuals resident in Lagos, Southwestern Nigeria. Peripheral blood samples were obtained from sixty individuals who are not related maternally, followed by DNA extraction and amplification of the extracted DNA using primers specific for the regions under investigation. DNA amplicons were sequenced, and sequenced data were aligned and compared to the revised Cambridge Reference Sequence (rCRS) GenBank Accession number: NC_012920.1) using BioEdit software. Results obtained showed 61 and 52 polymorphic nucleotide positions for HVS1 and HVS2, respectively. While a total of three indels mutation were recorded for HVS1, there were seven for HVS2. Also, transition mutations predominate nucleotide change observed in the study. Genetic diversity (GD) values for HVS1 and HVS2 were estimated to be 84.21 and 90.4%, respectively, while random match probability was 0.17% for HVS1 and 0.89% for HVS2. The study also revealed mixed haplogroups specific to the African (L1-L3) and the Eurasians (U and H) lineages. New polymorphic sites obtained from the study are promising for human identification purposes.

Keywords: hypervariable region, indels, mitochondrial DNA, polymorphism, random match probability

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