Search results for: clinical interpretation

Authors: Sathvika Reddy, Devi Revathi

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Background: In India, deliberate self-harm (DSH) with poisoning agents carries a significant impact on morbidity and mortality. Changes in the patterns of poisoning vary across various geographical locations. It is important to know the patterns in a given region in order to facilitate rapid clinical diagnosis, appropriate treatment to reduce associated morbidity and mortality. Aim and Objective: To study the patterns, treatment outcomes of acute poisoning in patients admitted to emergency wards in a tertiary care hospital and to provide poison information services. Materials and Methods: This study was conducted at M.S Ramaiah Memorial and Teaching Hospital from November 2016 to March 2017. The patient’s data was obtained from patient case sheet, interaction with health care professionals, interviewing patients and their caretakers (if possible), and were documented in a suitably designed form. Results: The study involved 131 patients with a mean age of 27.76 ± 15.5 years. Majority of the patients were in the age group 21-30 years, literates (n=53) dwelling in urban (n=113) areas belonging to upper middle class (n=50). Analgesics and antipyretics were commonly utilized in intentional drug overdosage (n=49). Envenomation constituted n=21(16.03%). Furthermore, a significant relationship was observed between marital status and self-poisoning (n=64) (P < 0.001) which commonly occurred through oral ingestion. The outcomes were correlated with the GCS and PSS system and n=85 recovered, n=17 were discharged against medical advice, and n=4 died, and n=4 were lost to follow up respectively. The poison information queries include drug overdose (n=29) and management related queries (n=22) provided majorly by residents (n=45) to update knowledge (n=11) and for better patient care (n=40). Conclusion: The trend in poisoning is dynamic. Medications were identified as the main cause of poisoning in urban areas of India. Educational programs with more emphasis on preventive measures are necessary to create awareness among the general public.

Keywords: poisoning, suicides, clinical pharmacist, envenomation, poison information services

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Authors: Doua AlSaad, Ahmed Awaisu, Samah Elsalem, Palli Valapila Abdulrouf, Binny Thomas, Moza AlHail

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Background: It has been suggested that pyridoxine has an anti-lactogenic effect. Studies of the efficacy of pyridoxine in suppressing lactation have reported conflicting results. The aim of this review is to evaluate the effectiveness and safety of high-dose pyridoxine in postpartum lactation inhibition. Methods: This systematic review included published trials that compared the efficacy and/or safety of pyridoxine to placebo or to other pharmacological agents for the inhibition of postpartum lactation. We searched PubMed, Embase, ScienceDirect, CINAHL, AMED, the Cochrane library, and the clinical trials registry to identify relevant literature. No limit was imposed on the year of publication of the studies, and the review included studies published until 15 January 2016. Two reviewers independently extracted data and assessed the risk of bias. Results: Seven studies were included, with a total of 1155 women, of which 471 women received pyridoxine. Three studies were randomized controlled trials, while the remaining four studies were non-randomized controlled trials. All of the included studies were relatively small (n = 18 – 482). The studies compared pyridoxine with placebo, bromocriptine, and/or stilboestrol. Pyridoxine was given orally, with a total daily dose of 450 – 600 mg for 5 to 7 days. Two trials (n = 349 participants) indicated that pyridoxine was effective in inhibiting lactation in approximately 95% of the enrolled patients. All other studies failed to demonstrate pyridoxine efficacy through either clinical assessment or prolactin level measurements. Pyridoxine safety was assessed by two trials in which no serious untoward side-effects were reported. Overall, the risk of bias for most of the studies was low to moderate. Conclusion: Current evidence supporting the effectiveness of high dose pyridoxine in the inhibition of postpartum lactation is inconsistent and insufficient. Larger randomized trials are needed to confirm the efficacy of pyridoxine in postpartum lactation inhibition. Acknowledgment: This review received a grant from the Medical Research Center of Hamad Medical Corporation in Qatar (grant number: 15100/15).

Keywords: pyridoxine, safety, effectiveness, lactation inhibition

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Authors: Aicha Akrout, Amira Echtioui, Mohamed Ghorbel

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Pneumonia remains a significant global health concern, posing a substantial threat to human lives due to its contagious nature and potentially fatal respiratory complications caused by bacteria, fungi, or viruses. The reliance on chest X-rays for diagnosis, although common, often necessitates expert interpretation, leading to delays and potential inaccuracies in treatment. This study addresses these challenges by employing transfer learning techniques to automate the detection of lung diseases, with a focus on pneumonia. Leveraging three pre-trained models, VGG-16, ResNet50V2, and MobileNetV2, we conducted comprehensive experiments to evaluate their performance. Our findings reveal that the proposed model based on VGG-16 demonstrates superior accuracy, precision, recall, and F1 score, achieving impressive results with an accuracy of 93.75%, precision of 94.50%, recall of 94.00%, and an F1 score of 93.50%. This research underscores the potential of transfer learning in enhancing pneumonia diagnosis and treatment outcomes, offering a promising avenue for improving healthcare delivery and reducing mortality rates associated with this debilitating respiratory condition.

Keywords: chest x-ray, lung diseases, transfer learning, pneumonia detection

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Authors: Amatulraheem Al-Abassi, K. Khanafer, Ibrahim Deiab

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The coronary artery stent is a promising technology that can treat various coronary diseases. Materials used for manufacturing medical stents should have high biocompatible properties. Stent alloys, in particular, are remarkably promising good clinical outcomes, however, there is threaten of restenosis (reoccurring of artery narrowing due to fatty plaque), stent recoiling, or in long-term the occurrence of stent fracture. However, stents that are made of Nickel-titanium (Nitinol) can bare extensive plastic deformation and resist restenosis. This shape memory alloy has outstanding mechanical properties. Nitinol is a unique shape memory alloy as it has unique mechanical properties such as; biocompatibility, super-elasticity, and recovery to original shape under certain loads. Stent failure may cause complications in vascular diseases and possibly blockage of blood flow. Thus, studying the behaviors of the stent under different medical conditions will help the doctors and cardiologists to predict when it is necessary to change the stent in order to prevent any severe morbidity outcomes. To the best of our knowledge, there are limited published papers that analyze the stent behavior with regards to the contact surfaces of plaque layer and blood vessel. Thus, stent material properties will be discussed in this investigation to highlight the mechanical and clinical differences between various stents. This research analyzes the performance of Nitinol stent in well-known stent design to determine its bearing with stress and its dislocation in blood vessels, in comparison to stents made of different biocompatible materials. In addition, a study of its performance will be represented in the system. Finite Element Analysis is the core of this study. Thus, a physical representative model will be discussed to show the distribution of stress and strain along the interaction surface between the stent and the artery. The reaction of vascular tissue to the stent will be evaluated to predict the possibility of restenosis within the treated area.

Keywords: shape memory alloy, stent, coronary artery, finite element analysis

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Authors: Md. Mamunur Rashid

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Allah (SWT) bestowed us with the Divine blessing, providing the wonderful source of water as stated in verse 15:22 of Al-Quran. Arabic “Ar-Riaaha Lawaaqiha (ٱلرِّيَـٰحَ لَوَٰقِحَ)” of this verse is translated as “fertilizing winds.” The “fertilizing winds” literally, refer the winds of having the roles: to fertilize something similar to the “zygotes” in humans and animals (formation of clouds in the sky in this case); to produce fertilizers for the plants, crops, etc.; and to pollinate the plants. In this paper, these roles of “fertilizing winds” have been validated by presenting the modern knowledge of science in this regard. Existing interpretations are mostly focused on the “formation of clouds in the sky” while few of them mention about the pollination of trees. However, production of fertilizers, in this regard, has not been considered by any translator or interpreter. It has been observed that the winds contain, the necessary components of forming the clouds; the necessary components of producing the fertilizers; and the necessary components to pollinate the plants. The Science of Meteorology gives us the clear understanding of the formation of clouds. Moreover, we know that the lightning bolts breaks the nitrogen molecules of winds and the water molecules of vapor to form fertilizers. Pollination is a common role of winds in plants fertilization. All the scientific phenomena presented here give us the better interpretations of “fertilizing winds.”

Keywords: Al-Quran, fertilizing winds, meteorology, scientific

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Authors: Syed Dawood Md. Taimur, Md. Hasanur Rahman, Syeda Fahmida Afrin, Farzana Islam

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The concept of myocardial injury, although first recognized from animal studies, is now recognized as a clinical phenomenon that may result in microvascular damage, no-reflow phenomenon, myocardial stunning, myocardial hibernation and ischemic preconditioning. The final consequence of this event is left ventricular (LV) systolic dysfunction leading to increased morbidity and mortality. The typical clinical case of reperfusion injury occurs in acute myocardial infarction (MI) with ST segment elevation in which an occlusion of a major epicardial coronary artery is followed by recanalization of the artery. This may occur either spontaneously or by means of thrombolysis and/or by primary percutaneous coronary intervention (PCI) with efficient platelet inhibition by aspirin (acetylsalicylic acid), clopidogrel and glycoprotein IIb/IIIa inhibitors. In recent years, percutaneous coronary intervention (PCI) has become a well-established technique for the treatment of coronary artery disease. PCI improves symptoms in patients with coronary artery disease and it has been increasing the safety of procedures. However, peri- and post-procedural myocardial injury, including angiographical slow coronary flow, microvascular embolization, and elevated levels of cardiac enzyme, such as creatine kinase and troponin-T and -I, has also been reported even in elective cases. Furthermore, myocardial reperfusion injury at the beginning of myocardial reperfusion, which causes tissue damage and cardiac dysfunction, may occur in cases of the acute coronary syndrome. Because patients with myocardial injury is related to larger myocardial infarction and have a worse long-term prognosis than those without myocardial injury, it is important to prevent myocardial injury during and/or after PCI in patients with coronary artery disease. To date, many studies have demonstrated that adjunctive pharmacological treatment suppresses myocardial injury and increases coronary blood flow during PCI procedures. In this review, we highlight the usefulness of pharmacological treatment in combination with PCI in attenuating myocardial injury in patients with coronary artery disease.

Keywords: coronary artery disease, percutaneous coronary intervention, myocardial injury, pharmacology

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Authors: Nathaniel Deboever, Malcolm Breeze, Adrian Sheen

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Basic surgical and suturing techniques are a fundamental requirement for all doctors. In order to gain confidence and competence, doctors in training need to obtain sufficient teaching and just as importantly: practice. Young doctors with an apt level of expertise on these simple surgical skills, which are often used in the Emergency Department, can help alleviate some pressure during a busy evening. Unfortunately, learning these skills can be quite difficult during medical school or even during junior doctor years. The aim of this project was to adequately train medical students attending University of Sydney’s Nepean Clinical School through a series of workshops highlighting practical skills, with hopes to further extend this program to junior doctors in the hospital. The sessions instructed basic skills via tutorials, demonstrations, and lastly, the sessions cemented these proficiencies with practical sessions. During such an endeavor, it is fundamental to employ models that appropriately resemble what students will encounter in the clinical setting. The sustainability of workshops is similarly important to the continuity of such a program. To address both these challenges, the authors have developed models including suturing platforms, knot tying, and vessel ligation stations, as well as a shave and punch biopsy models and ophthalmologic foreign body device. The unique aspect of this work is that we utilized hands-on teaching sessions, to address a gap in doctors-in-training and junior doctor curriculum. Presented to you through this poster are our approaches to creating models that do not employ animal products and therefore do not necessitate particular facilities or discarding requirements. Covering numerous skills that would be beneficial to all young doctors, these models are easily replicable and affordable. This exciting work allows for countless sessions at low cost, providing enough practice for students to perform these skills confidently as it has been shown through attendee questionnaires.

Keywords: medical education, surgical models, surgical simulation, surgical skills education

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Authors: Ali Al Orf, Khawaja Bilal Waheed

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Background and objective: Joubert syndrome (JS) is a rare, autosomal-recessive condition. Early recognition is important for management and counseling. Magnetic resonance imaging (MRI) can help in diagnosis. Therefore, we sought to evaluate clinical presentation and MRI findings in Joubert syndrome and related disorders. Method: A retrospective review of genetically proven cases of Joubert syndromes and related disorders was reviewed for their clinical presentation, demographic information, and magnetic resonance imaging findings in a period of the last 10 years. Two radiologists documented magnetic resonance imaging (MRI) findings. The presence of hypoplasia of the cerebellar vermis with hypoplasia of the superior cerebellar peduncle resembling the “Molar Tooth Sign” in the mid-brain was documented. Genetic testing results were collected to label genes linked to the diagnoses. Results: Out of 12 genetically proven JS cases, most were females (9/12), and nearly all presented with hypotonia, ataxia, developmental delay, intellectual impairment, and speech disorders. 5/12 children presented at age of 1 or below. The molar tooth sign was seen in 10/12 cases. Two cases were associated with other brain findings. Most of the cases were found associated with consanguineous marriage Conclusion and discussion: The molar tooth sign is a frequent and reliable sign of JS and related disorders. Genes related to defective cilia result in malfunctioning in the retina, renal tubule, and neural cell migration, thus producing heterogeneous syndrome complexes known as “ciliopathies.” Other ciliopathies like Senior-Loken syndrome, Bardet Biedl syndrome, and isolated nephronophthisis must be considered as the differential diagnosis of JS. The main imaging findings are the partial or complete absence of the cerebellar vermis, hypoplastic cerebellar peduncles (giving MTS), and (bat-wing appearance) fourth ventricular deformity. LimitationsSingle-center, small sample size, and retrospective nature of the study were a few of the study limitations.

Keywords: Joubart syndrome, magnetic resonance imaging, molar tooth sign, hypotonia

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Authors: Fatmawati Adam, Saidatul Syaima Mat Tari, Saiful Nizam Tajuddin, Nurul Salwa Azliyana Hamzah

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Essential oil of agarwood or known as Gaharu in Malay is highly prized for its value as luxury fragrances and incense. However, the complexities of the chemical composition of agarwood itself is the main challenge for establishment of an effective recovery method, which is able to ensure uniform qualities and standard for each batch of essential oil production. Agarwood markers are actually a blend of volatile and non-volatile compounds. While volatile molecules could be easily retrieved by the present distillation technique, the high solubility properties are the limiting factor for the latter. With regard to this, an elementary chemistry resolution study had been performed on commercial agarwood essential oil-water mixture, by the application of preparative HPLC and FTIR. Interpretation of the results leads to the theoretical postulation that, agarwood water mixture comprise of agarospirol, jinkohol, jinkoh eremol and khusenol. This study provides a pinpoint on the chemical characteristics of water soluble (non-volatile) agarwood compounds, therefore, will be an insight for researchers to develop a more strategic technique for their extraction. Thereafter the optimum quality of this essential oil could be controlled in a more improved way.

Keywords: Agarwood, Aquillaria Malaccensis, agarospirol, jinkohol, jinkoh eremol, khusenol

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Authors: Silvia Alaimo

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This lecture brings to our attention the theme of spirituality within Gestalt therapy’s theoretical and clinical perspectives and which is closely connected to the fertile emptiness and creative indifference’ experiences. First of all, the premise that must be done is the overcoming traditional western culture’s philosophical and religious misunderstandings, such as the dicotomy between spirituality and pratical/material daily life, as well as the widespread secular perspective of classic psychology. Even fullness and emptiness have traditionally been associated with the concepts of being and not being. "There is only one way through which we can contact the deepest layers of our existence, rejuvenate our thinking and reach intuition (the harmony of thought and being): inner silence" (Perls) *. Therefore, "fertile void" doesn't mean empty in itself, but rather an useful condition of every creative and responsible act, making room for a deeper dimension close to spirituality. Spirituality concerns questions about the meaning of existence, which lays beyond the concrete and literal dimension, looking for the essence of things, and looking at the value of personal experience. Looking at fundamentals of Gestalt epistemology, phenomenology, aesthetics, and the relationship, we can reach the heart of a therapeutic work that takes spiritual contours and which are based on an embodied (incarnate size), through the relational aesthetic knowledge (Spagnuolo Lobb ), the deep contact with each other, the role of compassion and responsibility, as the patient's recognition criteria (Orange, 2013) rooted in the body. The aesthetic dimension, like the spiritual dimension to which it is often associated, is a subtle dimension: it is the dimension of the essence of things, of their "soul." In clinical practice, it implies that the relationship between therapist and patient is "in the absence of judgment," also called "zero point of creative indifference," expressed by ‘therapeutic mentality’. It consists in following with interest and authentic curiosity where the patient wants to go and support him in his intentionality of contact. It’s a condition of pure and simple awareness, of the full acceptance of "what is," a moment of detachment from one's own life in which one does not take oneself too seriously, a starting point for finding a center of balance and integration that brings to the creative act, to growth, and, as Perls would say, to the excitement and adventure of living.

Keywords: spirituality, bodily, embodied aesthetics, phenomenology, relationship

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Authors: Orly Yona Drori, Shirley Ben Shlomo

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Objectives: The participants will be able to recognize the predictors of binge eating addiction among women who suffer from psychological abuse in their relationships and will recognize the role of woman's defense mechanisms in moderating the association between psychological abuse and binge eating addiction. Methods: A convenience sample of 380 Israeli women in relationships were located via the Internet, and after consenting to participate in the study, they completed a series of structured questionnaires (The Yale Food Addiction Scale; The Defense Style Questionnaire; psychological maltreatment of women by their male partners; level of differentiation of self; sociodemographic questionnaire). Results: The higher the level of differentiation and mature defense mechanisms, the less addictive a woman is. However, the level of addiction among women who experience psychological abuse within their intimate relations is higher than women who do not experience psychological abuse in their relationship. Among women who experienced psychological abuse in their relations, the defense mechanisms moderate the association between psychological abuse within intimate relations and the extent of the addiction to binge eating. Conclusions: The study contributes to the therapy of women with binge eating addictions, as it raises awareness of therapeutic-related content that could strengthen women and help them to cope with situations in their lives without the need to binge. One of the significant variables for therapeutic work is the level of differentiation of the self. In addition, identifying the types of defense mechanisms might help to match treatment to the woman's emotional needs. The current study found also that it is important to identify the environmental systems by which the addict is surrounded, such as whether woman is in an abusive relationship. Finally the study leads to the recognition that binge eating, which is usually treated with an emphasis on nutritional behavior change, is an addiction, and as such, it requires a combination of mental, nutritional and behavioral therapy. In view of this approach, it is recommended that treating a woman who is addicted to binge eating should involve a multi-disciplinary team comprised of physicians, clinical dietitians, and clinical psychotherapists.

Keywords: binge eating, defence mechanism, food addiction, psychological abuse

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Authors: Nicole Ramlachan, Samuel Mark West

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Lung cancer is the leading cause of cancer-associated deaths in North America, with the vast majority being non-small cell lung cancer (NSCLC), with a five-year survival rate of only 24%. Non-invasive discovery of biomarkers associated with early-diagnosis of NSCLC can enable precision oncology efforts using liquid biopsy-based multiomics profiling of plasma. Although tissue biopsies are currently the gold standard for tumor profiling, this method presents many limitations since these are invasive, risky, and sometimes hard to obtain as well as only giving a limited tumor profile. Blood-based tests provides a less-invasive, more robust approach to interrogate both tumor- and non-tumor-derived signals. We intend to examine 30 stage III-IV NSCLC patients pre-surgery and collect plasma samples.Cell-free DNA (cfDNA) will be extracted from plasma, and next-generation sequencing (NGS) performed. Through the analysis of tumor-specific alterations, including single nucleotide variants (SNVs), insertions, deletions, copy number variations (CNVs), and methylation alterations, we intend to identify tumor-derived DNA—ctDNA among the total pool of cfDNA. This would generate data to be used as an accurate form of cancer genotyping for diagnostic purposes. Using liquid biopsies offer opportunities to improve the surveillance of cancer patients during treatment and would supplement current diagnosis and tumor profiling strategies previously not readily available in Trinidad and Tobago. It would be useful and advantageous to use this in diagnosis and tumour profiling as well as to monitor cancer patients, providing early information regarding disease evolution and treatment efficacy, and reorient treatment strategies in, timethereby improving clinical oncology outcomes.

Keywords: genomics, multiomics, clinical genetics, genotyping, oncology, diagnostics

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Authors: Alec Chabwinja, Cannan Tawonezvi, Jerneja Vidmar, Constance Chingwaru, Walter Chingwaru

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Objective: To evaluate the potential of commercial fermented / probiotic products available in Zimbabwe or internationally, and strains of Lactobacillus plantarum (L. plantarum) as prophylaxis and therapy against diarrhoeal and sexually transmitted infections. Methods: The antimicrobial potential of cultures of lactobacilli enriched from 4 Zimbabwean commercial food/beverage products, namely Dairibord Lacto sour milk (DLSM), Probrand sour milk (PSM), Kefalos Vuka cheese (KVC) and Chibuku opaque beer (COB); three probiotic products obtainable in Europe and internationally; and four strains of L. plantarum obtained from Balkan traditional cheeses and Zimbabwean foods against clinical strains of Escherichia coli (E. coli) and non-clinical strains of Candida albicans and Rhodotorula spp. was assayed using the well diffusion method. Three commercial Agar diffusion assay and a competitive exclusion assay were carried out on Mueller-Hinton agar. Results: Crude cultures of putative lactobacillus strains obtained from Zimbabwean dairy products (Probrand sour milk, Kefalos Vuka vuka cheese and Chibuku opaque beer) exhibited significantly greater antimicrobial activities against clinical strains of E. coli than strains of L. plantarum isolated from Balkan cheeses (CLP1, CLP2 or CLP3) or crude microbial cultures from commercial paediatric probiotic products (BG, PJ and PL) of a culture of Lactobacillus rhamnosus LGG (p < 0.05). Furthermore, the following has high antifungal activities against the two yeasts: supernatant-free microbial pellet (SFMP) from an extract of M. azedarach leaves (27mm ± 2.5) > cell-free culture supernatants (CFCS) from Maaz Dairy sour milk and Mnandi sour milk (approximately 26mm ± 1.8) > CFCS and SFMP from Amansi hodzeko (25mm ± 1.5) > CFCS from Parinari curatellifolia fruit (24mm ± 1.5), SFMP from P. curatellifolia fruit (24mm ± 1.4) and SFMP from mahewu (20mm ± 1.5). These cultures also showed high tolerance to acidic conditions (~pH4). Conclusions: The putative lactobacilli from four commercial Zimbabwean dairy products (Probrand sour milk, Kefalos Vuka vuka cheese and Chibuku opaque beer), and three strains of L. plantarum from Balkan cheeses (CLP1, CLP2 or CLP3) exhibited high antibacterial activities, while Maaz Dairy sour-, Mnandi sour- and Amansi hodzeko milk products had high antifungal activities. Our selection of Zimbabwean probiotic products has potential for further development into probiotic products for use in the control diarrhea caused by pathogenic strains of E. coli or yeast infections. Studies to characterise the probiotic potential of the live cultures in the products are underway.

Keywords: lactic acid bacteria, Staphylococcus aureus, Streptococcus spp, yeast, inhibition, acid tolerance

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Authors: Mahmoud Ghazy, Ahmed R. Z. Baghdadi

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Background: With the perceived pain and poor function experienced following total hip Arthroplasty (THA), patients usually feel un-satisfied. Methods: Thirty patients with THA (group I) and thirty indicated for arthroplasty but weren’t operated on yet (group II) participated in the study. The mean age was 54.53±3.44 and 55.33±2.32 years and BMI 35.7±3.03 and 35.73±1.03 kg/m2 for group I and III respectively. The Berg Balance Scale (BBS), Timed Up-and-Go (TUG) and Stair-Climbing (SC) tests were used for assessment. Assessments were conducted four weeks pre- and post-operatively and three months post-operatively with the control group being assessed at the same time intervals. The post-operative rehabilitation involved hospitalization (1st week), home-based (2nd-4th weeks), and outpatient clinic (5th-12th weeks) programs. Results: group I had significantly lower TUG and SC time compared with group II four weeks and three months post-operatively. Moreover, the BBS scores increased significantly and the pain scores and TUG and SC time decreased significantly four weeks and three months post-operatively compared with four weeks pre- operatively in group. But no significant differences in BBS scores four weeks and three months post-operatively in group I compared with group II. Interpretation/Conclusion : Patients with THA still have defects in proprioception, so they needs more concentration on proprioception training.

Keywords: dynamic balance, functional performance, hip arthroplasty, total

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Authors: Shohreh Ghasemi

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Introduction: Managing oral and maxillofacial trauma is a multifaceted challenge, as it can have life-threatening consequences and significant functional and aesthetic impact. Navigation techniques have been introduced to improve surgical precision to meet this challenge. A machine learning algorithm was also developed to support clinical decision-making regarding treating oral and maxillofacial trauma. Given these advances, this systematic meta-analysis aims to assess the efficacy of navigational techniques in treating oral and maxillofacial trauma and explore the impact of machine learning on their management. Methods: A detailed and comprehensive analysis of studies published between January 2010 and September 2021 was conducted through a systematic meta-analysis. This included performing a thorough search of Web of Science, Embase, and PubMed databases to identify studies evaluating the efficacy of navigational techniques and the impact of machine learning in managing oral and maxillofacial trauma. Studies that did not meet established entry criteria were excluded. In addition, the overall quality of studies included was evaluated using Cochrane risk of bias tool and the Newcastle-Ottawa scale. Results: Total of 12 studies, including 869 patients with oral and maxillofacial trauma, met the inclusion criteria. An analysis of studies revealed that navigation techniques effectively improve surgical accuracy and minimize the risk of complications. Additionally, machine learning algorithms have proven effective in predicting treatment outcomes and identifying patients at high risk for complications. Conclusion: The introduction of navigational technology has great potential to improve surgical precision in oral and maxillofacial trauma treatment. Furthermore, developing machine learning algorithms offers opportunities to improve clinical decision-making and patient outcomes. Still, further studies are necessary to corroborate these results and establish the optimal use of these technologies in managing oral and maxillofacial trauma

Keywords: trauma, machine learning, navigation, maxillofacial, management

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Authors: Sandra Cardoso, Gaspar Pais, Judite Neves, Sandra Cavaca, Fernando Araújo

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In 2021, Portugal has 63 emergency department (ED) visits per 100 people annually, the highest numbers in Europe. While EDs provide a critical service, high use is indicative of inappropriate and inefficient healthcare. In Portugal, all ED have the Manchester Triage System (MTS), a clinical risk management tool to enable that patients are seen in order of clinical priority. In 2023, more than 40% of the ED visits were of non-urgent conditions (blue and green), that could be better managed in primary health care (PHC), meaning wrong use of resources and lack of health literacy. From 2017, the country has a phone line, SNS24 (Contact Centre of the National Health Service), for triage, counseling, and referral service, 24 hours/7 days a week. The pilot project ‘Call before, save lives’ was implemented in the municipalities of Póvoa de Varzim and Vila do Conde (around 150.000 residents), in May 2023, by the executive board of the Portuguese Health Service, with the support of the Shared Services of the Ministry of Health, and local authorities. This geographical area has short travel times, 99% of the population a family doctor and the region is organized in a health local unit (HLU), integrating PHC and the local hospital. The purposes of this project included to increase awareness to contact SNS 24, before going to an ED, and non-urgent conditions oriented to a family doctor, reducing ED visits. The implementation of the project involved two phases, beginning with: i) development of campaigns using local influencers (fishmonger, model, fireman) through local institutions and media; ii) provision of telephone installed on site to contact SNS24; iii) establishment of open consultation in PHC; iv) promotion of the use of SNS24; v) creation of acute consultations at the hospital for complex chronic patients; and vi) direct referral for home hospitalization by PHC. The results of this project showed an excellent level of access to SNS24, an increase in the number of users referred to ED, with great satisfaction of users and professionals. The second phase, initiated in January 2024, for access to the ED, the need for prior referral was established as an admission rule, except for certain situations, as trauma patients. If the patient refuses, their registration in the ED and subsequent screening in accordance with the MTS must be ensured. When the patient is non-urgent, shall not be observed in the ED, provided that, according to his clinical condition, is guaranteed to be referred to PHC or to consultation/day hospital, through effective scheduling of an appointment for the same or the following day. In terms of results, 8 weeks after beginning of phase 2, we assist of a decrease in self-reported patients to ED from 59% to 15%, and a reduction of around 7% of ED visits. The key for this success was an effective public campaign that increases the knowledge of the right use of the health system, and capable of changing behaviors.

Keywords: contact centre of the national health service, emergency department visits, public campaign, health literacy, SNS24

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Authors: Hilary Modir, Kyle Dutton, Michelle Swab, Shabnam Asghari

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Since its emergence, the cutaneous manifestations of COVID-19 have been documented in the literature. However, the majority are case reports with significant limitations in appraisal quality, thus leaving the role of dermatological manifestations of COVID-19 erroneously underexplored. The primary aim of this review was to systematically examine clinical patterns of dermatological manifestations as reported in the literature. This study was designed as a systematic review of case reports. The inclusion criteria consisted of all published reports and articles regarding COVID-19 in English, from September 1st, 2019, until June 22nd, 2020. The population consisted of confirmed cases of COVID-19 with associated cutaneous signs and symptoms. Exclusion criteria included research in planning stages, protocols, book reviews, news articles, review studies, and policy analyses. With the collaboration of a librarian, a search strategy was created consisting of a mixture of keyword terms and controlled vocabulary. Electronic databases searched were MEDLINE via PubMed, EMBASE, CINAHL, Web of Science, LILACS, PsycINFO, WHO Global Literature on Coronavirus Disease, Cochrane Library, Campbell Collaboration, Prospero, WHO International Clinical Trials Registry Platform, Australian and New Zealand Clinical Trials Registry, U.S. Institutes of Health Ongoing Trials Register, AAD Registry, OSF preprints, SSRN, MedRxiV and BioRxiV. The study selection featured an initial pre-screening of titles and abstracts by one independent reviewer. Results were verified by re-examining a random sample of 1% of excluded articles. Eligible studies progressed for full-text review by two calibrated independent reviewers. Covidence was used to store and extract data, such as citation information and findings pertaining to COVID-19 and cutaneous signs and symptoms. Data analysis and summarization methodology reflect the framework proposed by PRISMA and recommendations set out by Cochrane and Joanna Brigg’s Institute for conducting systematic reviews. The Oxford Centre for Evidence-Based Medicine’s level of evidence was used to appraise the quality of individual studies. The literature search revealed a total of 1221 articles. After the abstract and full-text screening, only 95 studies met the eligibility criteria, proceeding to data extraction. Studies were divided into 58% case reports and 42% series. A total of 833 manifestations were reported in 723 confirmed COVID-19 cases. The most frequent lesions were 23% maculopapular, 15% urticarial and 13% pseudo-chilblains, with 46% of lesions reporting pruritus, 16% erythema, 14% pain, 12% burning sensation, and 4% edema. The most common lesion locations were 20% trunk, 19.5% lower limbs, and 17.7% upper limbs. The time to resolution of lesions was between one and twenty-one days. In conclusion, over half of the reported cutaneous presentations in COVID-19 positive patients were maculopapular, urticarial and pseudo-chilblains, with the majority of lesions distributed to the extremities and trunk. As this review’s sample size only contained COVID-19 confirmed cases with skin presentations, it becomes difficult to deduce the direct relationship between skin findings and COVID-19. However, it can be correlated that acute onset of skin lesions, such as chilblains-like, may be associated with or may warrant consideration of COVID-19 as part of the differential diagnosis.

Keywords: COVID-19, cutaneous manifestations, cutaneous signs, general dermatology, medical dermatology, Sars-Cov-2, skin and infectious disease, skin findings, skin manifestations

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Authors: Lee Da Hyun

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The purpose of this study is to explore the relation between the internal dynamics of standing committees and legislative productivity of the Korean National Assembly using statistical methods. Studies on legislation in South Korea have been largely revolved around political parties due to the uniqueness of its political context including strong party cohesion and party’s nomination right. However, as standing committees have been at the center of legislatures since the 6th National Assembly, there is a growing need for studying the operation and effectiveness of standing committees in legislation process. Thus, through panel data analysis for the sixteen standing committees across the four terms of the Korean National Assembly-from the 16th to the 19th-this article attempts to reveal that legislators’ bill passing rate is not a sole function of factors pertaining to political party as the existing studies have believed. By measuring the ideological distribution within a committee and the bill passing rate, this article provides differentiated interpretation from established theories of standing committees and presents compelling evidence describing complex interactions and independent operation of the standing committees with the subsequent legislative results.

Keywords: collective decision-making, lawmaking, legislation, political polarization, standing committees

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Authors: Sulihantoro, Muhamad Irga Fahreza

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Age of onset of the crisis makes more advanced understanding of the values of Islam that has been etched in architectural design. The majority Muslim mosque architecture designing buildings when they designed the architecture of Islam has always stuck in a cultural symbol, the shape of the facade, carving calligraphy, and all things that are closely related to the culture of the Middle East. As well as the interpretation of symbols, by designing a dome in every mosque, calligraphy carvings inside the mosque, and the other elements in the building which is interpreted by middle eastern culture. So here we have a problem understanding the meaning of Islam with kaf fah (overall), which appears distorted understanding to distinguish between cultural values and theological in design. This paper will try to evaluate the design of a contemporary mosque in Indonesia, with a case study in Masjid Kauman Yogyakarta Indonesia. building characteristics focused on the function of the building, history, aesthetics, comfort, and safety. The results of this study should be found on the evaluation of the integrated design of contemporary mosques are based on a study of the Quran and Hadith.

Keywords: characteristics, Islamic concept, culture, Kauman Mosque

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Authors: J. Jayaletchmi

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In seeking to manage a multiracial and multi-religious society, Singapore provides a unique solution – a dual court system whereby a common law system co-exists with a Syariah law system that administers Syariah law for the Muslim population. In this respect, Singapore seems to provide a feasible example of legal pluralism to countries grappling with a burgeoning Muslim population. However, problems have arisen regarding this peaceful coexistence of secular and religious laws that seek to balance the rights of women and religious freedom. Singapore’s interpretation of Syariah law in the context of marriage and divorce has resulted in certain inequalities for Muslim women, which are exemplified in light of the Women’s Charter, a landmark piece of legislation which provides the legal basis for equity between husband and wife, but excludes Muslims from its ambit. The success of Singapore’s dual court system has largely been at the expense of Muslim women’s rights, and, as a result, the Muslim community as a whole has begun trailing behind the progressive society it forms a part of. This paper explores the prevailing unfairness of rules governing Muslim marriage and divorce in Singapore, and puts forth bold reforms.

Keywords: legal pluralism, Singapore, Syariah law, women’s rights

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Authors: Neha Joshi, Srikanth Jois, Hector J. Peughero, Poornima Jayakrishna, Moulya R., Purnima Madivanan, Kiran Kumar K. Salagame

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Transgenders are a marginalized section of the community, who are at high risk of mental health problems due to their stigmatization, abandonment by family, prejudice, discrimination by society at large, and the physical, emotional, and sexual abuse from both within and outside their community. Their mental healthcare needs remain largely unaddressed due to lack of access, discrimination by healthcare professions, and lack of resources, including time and money, to seek conventional medical and psychotherapeutic treatments. Meditation is increasingly receiving acceptance as a tool for managing stress and anxiety by the patients as well as mental healthcare professionals. “Meditation on Twin Hearts” is a no cost, self-administered intervention that a person can practice anywhere and at any time of the day. This pilot study evaluates the need for alternate traditional and ingenious interventions like “Meditation of Twin Hearts” to address the mental healthcare needs of the transgender community and acceptance of such an intervention by the community. Thirteen individuals identifying themselves as transgender were invited to participate in one (Hunsur Taluk) of the five scheduled free meditation camps in Mysore. After obtaining informed consent for participation in the study, their mental health status is captured using an anonymous survey using standard, validated, self-reported questionnaires Generalised Anxiety Disorders (GAD)-7 for anxiety, Patient Health Questionnaire (PHQ-9) for depression, and Suicidal Behavior Questionnaire-Revised for suicidality. Then, they were requested to attend a session on “Meditation on Twin Hearts.” After the session, their feedback on willingness to further explore the meditation technique for managing their mental healthcare need was assessed through another survey form. Out of the 13 participants, 92% scored for anxiety (4 mild, and 8 moderate anxiety). In the depression scale, 5 scored for mild and 5 for moderate depression, with a total of 77% (10/13) scoring positively on depression scale. Nearly 70% of participants (9/13), scored greater than the clinical cutoff for the need for clinical intervention. The proportion of individuals at risk for suicide was particularly high in this group, with 8/ 13 (61.5%) participants scoring the clinical cutoff score of ≥ 7. Surprisingly, none of the participants had ever consulted a mental healthcare professional. All the participants (13/13; 100%) responded in affirmative to the question, “Will you be willing to continue meditation for management of your anxiety?” Six out of 13 participants described their experience of meditation as “happy” and 3 described it as “peaceful”. None of the participants reported any negative beliefs or experience regarding the meditation. The study provides evidence for the urgent yet unmet mental healthcare need of the transgender community. The findings of the study also supports the rationale of conducting future systematic research to evaluate and explore ingenious and traditional practices, such as meditation, to meet the healthcare needs, especially in marginalized populations in a low income setting such as Lower and Middle Income countries. Based on these preliminary findings, the Principal Investigator (PI) is planning to cover 4 more areas of Mysore district.

Keywords: anxiety, depression, meditation on twin heart, suicidality, transgender

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Authors: Hasn Perera, Is Almeida, Hnk Perera, Mzf Mohammed, Ade Silva, H. Wijesinghe, Ajal Fernando

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Introduction: Dengue is a major Public Health burden of two clinical entities, Dengue Fever & Dengue Haemorrhagic Fever (DHF). The vast majority of dengue deaths occur in DHF patients, where the diagnosis hinges on the presence of fluid leakage. Limited Ultrasound Scans (USS) of chest and abdomen are used widely at Centre for Clinical Management of Dengue & Dengue Haemorrhagic Fever (CCMDDHF), as the primary method for detecting fluid leaking in DHF. This study analyses the relationship between haematological and USS findings at the onset of leaking and to further determine the usefulness of ultrasound in diagnosing DHF. Methods: A prospective analysis of 80 serologically confirmed dengue patients initially admitted to a General Medical and Paediatric wards who were subsequently transferred to the CCMDDHF from March to September 2017 were analysed. In addition to repeated blood counts and capillary haematocrits’, serial USS were done to detect the onset fluid leaking by three competent and experienced doctors at CCMDDHF. Results: 80 patients (male: female: 38:42) with a mean age of 20 years (SD ±16.8, range 3-74) were evaluated. Dropping of platelet counts below 100,000 and haematocrit rise towards 20% started 4±1.3 day of fever with a mean platelet value of 69x103(range17-98x103). Gallbladder wall thickening was the commonest (98.7%) USS finding followed by fluid in hepato-renal pouch (95%), pelvic fluid (58.7%), right-sided pleural effusion (35%), bilateral effusions (7.5%). USS evidence of plasma leakage was detected in 11.25 %( n=9) of DHF cases from 1 day before significant haematocrit rise was noted. 35 (43.7%) patients with lowering platelets and haematocrit rise showed no objective evidence of plasma leaking on ultrasound scan. Conclusion: This outbreak underscores the importance of USS as a useful, sensitive and cost-effective tool for early diagnosis of suspected DHF cases, facilitating the tracking of progress of leaking and management of epidemics.

Keywords: dengue, ultrasound, plasma leaking, South Asia

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Authors: A. Khosravi, S. Ghadirian, J. S. McCartney

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Evaluation of the seismic-induced settlement of an unsaturated soil layer depends on several variables, among which the small strain shear modulus, Gmax, and soil’s state of stress have been demonstrated to be of particular significance. Recent interpretation of trends in Gmax revealed considerable effects of the degree of saturation and hydraulic hysteresis on the shear stiffness of soils in unsaturated states. Accordingly, the soil layer is expected to experience different settlement behaviors depending on the soil saturation and seasonal weathering conditions. In this study, a semi-empirical formulation was adapted to extend an existing Gmax model to infer hysteretic effects along different paths of the SWRC including scanning curves. The suitability of the proposed approach is validated against experimental results from a suction-controlled resonant column test and from data reported in literature. The model was observed to follow the experimental data along different paths of the SWRC, and showed a slight hysteresis in shear modulus along the scanning curves.

Keywords: hydraulic hysteresis, scanning path, small strain shear modulus, unsaturated soil

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Authors: Adam Bereczk

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Due to persistent socioeconomic problems regarding sustainability and labour market equilibrium in Europe, the subjects of social economy gained considerable academic attention recently. At the meantime, social enterprises pursuing the double bottom line criteria, struggling to find the proper management philosophies and strategies to make their social purpose business financially sustainable. Despite the strategic management literature was developed mainly on the bases of large corporations, in the past years, the interpretation of strategy concepts became a frequent topic in scientific discussions in the case of small and medium-sized enterprises also. The topic of strategic orientations is a good example of the trend. However, less is known about the case of social enterprises, despite the fact, the majority of them are small businesses engaged in real business activities. The main purpose of this work is to give a comprehensive summary of different perspectives regarding the interpretations of strategic orientations of social enterprises. The novelty of this work is it shows the previous outcomes and models of scholars from various fields of economic science who tried to intertwine the two spheres in different forms, methodize the findings and draw attention to the shortcomings.

Keywords: social enterprises, business sustainability, strategic orientations, literature review

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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: Sadek Younes, Fali Leyla, Rikioui Tayeb, Zizouni Khaled

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Stabilization of clay with lime as bearing stratum is an alternative to replacement of original soil. By adding lime to clay soil, the soil workability is improved due to the combination of calcium ions to the clay minerals, which means, modified soil properties. The paper investigates the effect of hydrated lime on the behaviour of lime treated, arid zones clay (Abadla Clay). A number of mechanical and hydraulic tests were performed to identify the effect of lime dosage and compaction water content on the compressibility, permeability, and shear strength parameters of the soil. Test results show that the soil parameters can be improved through additives such as lime. Overall, the addition percentages of 6% and 9% lime give the best desired results. Also, results revealed that the compressibility behavior of lime-treated soil strongly affected by lime content. The results are presented in terms of modern interpretation of the behaviour of treated soils, in comparison with the parameters of the untreated soil.

Keywords: arid zones, compressibility, lime, soil behaviour, soil stabilization, unsaturated soil

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Authors: María José Benítez Jiménez

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Article 3 of the European Convention for the Protection of Human Rights and Fundamental Freedoms (E.C.H.R.) proclaims that no one may be subjected to torture, punishment or degrading treatment. The legislative correlate in Spain is embodied in Article 15 of the Spanish Constitution, and there must be an overlapping interpretation of both precepts on the ideal plane. While it is true that there are not many cases in which the European Court of Human Rights (E.C.t.H.R. (The Strasbourg Court)) has sanctioned Spain for its failure to investigate complaints of torture, it must be emphasized that the tendency to violate Article 3 of the Convention appears to be on the rise, being necessary to know possible factors that may be affecting it. This paper addresses the analysis of sentences that directly or indirectly reveal the violation of Article 3 of the European Convention. To carry out the analysis, sentences of the Strasbourg Court have been consulted from 2012 to 2016, being able to address any previous sentences to this period if it provided justified information necessary for the study. After the review it becomes clear that there are two key groups of subjects that request a response to the Strasbourg Court on the understanding that they have been tortured or degradingly treated. These are: immigrants and terrorists. Both phenomena, immigration and terrorism, respond to patterns that have mutated in recent years, and it is important for this study to know if national regulations begin to be dysfunctional.

Keywords: E.C.H.R., E.C.t.H.R. sentences, Spanish Constitution, torture

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Authors: Victor Pesco Kassa

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This research deals with the assessment of the contribution of GIS Technology in NRW. This research was conducted at Dar, Kawe Mzimuni Street. The data collection was obtained from existing source which is DAWASA HQ. The interpretation of the data was processed by using ArcGIS software. The data collected from the existing source reveals a good coverage of DAWASA’s water network at Mzimuni Street. Most of residents are connected to the DAWASA’s customer service. Also the collected data revealed that by using GIS DAWASA’s customer Geodatabase has been improved. Through GIS we can prepare customer location map purposely for site surveying also this map will be able to show different type of customer that are connected to DAWASA’s water service. This is a perfect contribution of the GIS Technology to address and manage the problem of NRW in DAWASA. Finally, the study recommends that the same study should be conducted in other DAWASA’s zones such as Temeke, Boko and Bagamoyo not only at Kawe Mzimuni Street. Through this study it is observed that ArcGIS software can offer powerful tools for managing and processing information geographically and in water and sanitation authorities such as DAWASA.

Keywords: DAWASA, NRW, Esri, EURA, ArcGIS

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Authors: U. E. Mochalova, A. V. Demeneva, Shilkin A. G., J. Yu. Artiushina

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Objective. In medical ophthalmology OCT has been actively used in the last decade. It is a modern non-invasive method of high-precision hardware examination, which gives a detailed cross-sectional image of eye tissues structure with a high level of resolution, which provides in vivo morphological information at the microscopic level about corneal tissue, structures of the anterior segment, retina and optic nerve. The purpose of this study was to explore the possibility of using the OCT technology in complex ophthalmological examination in dogs and cats, to characterize the revealed pathological structural changes in corneal tissue in cats and dogs with some of the most common corneal diseases. Procedures. Optical coherence tomography of the cornea was performed in 112 animals: 68 dogs and 44 cats. In total, 224 eyes were examined. Pathologies of the organ of vision included: dystrophy and degeneration of the cornea, endothelial corneal dystrophy, dry eye syndrome, chronic superficial vascular keratitis, pigmented keratitis, corneal erosion, ulcerative stromal keratitis, corneal sequestration, chronic glaucoma and also postoperative period after performed keratoplasty. When performing OCT, we used certified medical devices: "Huvitz HOCT-1/1F», «Optovue iVue 80» and "SOCT Copernicus Revo (60)". Results. The results of a clinical study on the use of optical coherence tomography (OCT)of the cornea in cats and dogs, performed by the authors of the article in the complex diagnosis of keratopathies of variousorigins: endothelial corneal dystrophy, pigmented keratitis, chronic keratoconjunctivitis, chronic herpetic keratitis, ulcerative keratitis, traumatic corneal damage, sequestration of the cornea of cats, chronic keratitis, complicating the course of glaucoma. The characteristics of the OCT scans are givencorneas of cats and dogs that do not have corneal pathologies. OCT scans of various corneal pathologies in dogs and cats with a description of the revealed pathological changes are presented. Of great clinical interest are the data obtained during OCT of the cornea of animals undergoing keratoplasty operations using various forms of grafts. Conclusions. OCT makes it possible to assess the thickness and pathological structural changes of the corneal surface epithelium, corneal stroma and descemet membrane. We can measure them, determine the exact localization, and record pathological changes. Clinical observation of the dynamics of the pathological process in the cornea using OCT makes it possible to evaluate the effectiveness of drug treatment. In case of negative dynamics of corneal disease, it is necessary to determine the indications for surgical treatment (to assess the thickness of the cornea, the localization of its thinning zones, to characterize the depth and area of pathological changes). According to the OCT of the cornea, it is possible to choose the optimal surgical treatment for the patient, the technique and depth of optically constructive surgery (penetrating or anterior lamellar keratoplasty).; determine the depth and diameter of the planned microsurgical trepanation of corneal tissue, which will ensure good adaptation of the edges of the donor material.

Keywords: optical coherence tomography, corneal sequestration, optical coherence tomography of the cornea, corneal transplantation, cat, dog

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Authors: Rita Alfattal, Maryam Alfarhan, Adeeb M. Algaith, Buthaina Albash, Reem M. Elshafie, Asma Alshammari, Ahmad Alahmad, Fatima Dashti, Rasha Alsafi, Hind Alsharhan

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Defects of respiratory chain complex III (CIII) result in characteristic but rare mitochondrial disorders associated with distinct neuroradiological findings. The underlying molecular defects affecting mitochondrial CIII assembly factors are few and yet to be identified. LYRM7 assembly factor is required for proper CIII assembly where it acts as a chaperone for the Rieske iron‐sulfur (UQCRFS1) protein in the mitochondrial matrix and stabilizing it. We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). Like previously reported individuals, our 4-year-old male proband presented with recurrent metabolic and lactic acidosis, encephalopathy, and myopathy. Further, he has additional, previously unreported features, including an acute stroke like episode with bilateral central blindness and optic neuropathy, recurrent hyperglycemia and hypertension associated with metabolic crisis. However, he has no signs of psychomotor regression. He has been stable clinically with residual left-sided reduced visual acuity and amblyopia, and no more metabolic crises for 2-year-period while on the mitochondrial cocktail. Although the reported brain MRI findings in other affected individuals are homogenous, it is slightly different in our index, revealing evidence of bilateral almost symmetric multifocal periventricular T2 hyperintensities with hyperintensities of the optic nerves, optic chiasm, and corona radiata but with no cavitation or cystic changes. This report describes new clinical and radiological findings of LYRM7-associated disease. The report also summarizes the clinical and molecular data of previously reported individuals describing the full phenotypic spectrum.

Keywords: LYRM7 gene defect, mitochondrial disease, , lactic acidosis, , genetic disorder

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