Search results for: biomechanics and clinical applications
Commenced in January 2007
Frequency: Monthly
Edition: International
Paper Count: 9825

Search results for: biomechanics and clinical applications

8535 Drug-Drug Plasma Protein Binding Interactions of Ivacaftor

Authors: Elena K. Schneider, Johnny X. Huang, Vincenzo Carbone, Mark Baker, Mohammad A. K. Azad, Matthew A. Cooper, Jian Li, Tony Velkov

Abstract:

Ivacaftor is a novel CF trans-membrane conductance regulator (CFTR) potentiator that improves the pulmonary function for cystic fibrosis patients bearing a G551D CFTR-protein mutation. Because ivacaftor is highly bound (>97%) to plasma proteins, there is the strong possibility that co-administered CF drugs that compete for the same plasma protein binding sites and impact the free drug concentration. This in turn could lead to drastic changes in the in vivo efficacy of ivacaftor and therapeutic outcomes. This study compares the binding affinity of ivacaftor and co-administered CF drugs for human serum albumin (HSA) and α1-acid glycoprotein (AGP) using surface plasmon resonance and fluorimetric binding assays that measure the displacement of site selective probes. Due to their high plasma protein binding affinities, drug-drug interactions between ivacaftor are to be expected with ducosate, montelukast, ibuprofen, dicloxacillin, omeprazole and loratadine. The significance of these drug-drug interactions is interpreted in terms of the pharmacodynamic/pharmacokinetic parameters and molecular docking simulations. The translational outcomes of the data are presented as recommendations for a staggered treatment regimen for future clinical trials which aims to maximize the effective free drug concentration and clinical efficacy of ivacaftor.

Keywords: human α-1-acid glycoprotein, binding affinity, human serum albumin, ivacaftor, cystic fibrosis

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8534 Policy to Improve in vitro Fertilization Outcome in Women with Poor Ovarian Response: Frozen Embryo Transfer (ET) of Accumulated Vitrified Embryos vs. Frozen ET of Accumulated Vitrified Embryos plus Fresh ET

Authors: Hwang Kwon

Abstract:

Objective: To assess the efficacy of embryo transfer (ET) of accumulated vitrified embryos and compare pregnancy outcomes between ET of thawed embryos following accumulation of vitrified embryos (frozen ET) and ET of fresh and thawed frozen embryos following accumulation of vitrified embryos (fresh ET + frozen ET). Study design: Patients were poor ovarian responders defined according to the Bologna criteria as well as a subgroup of women whose previous IVF-ET cycle through controlled ovarian stimulation (COS) yielded one or no embryos. Sixty-four frozen ETs were performed following accumulation of vitrified embryos (ACCE )(ACCE Frozen) and 51 fresh + frozen ETs were performed following accumulation of vitrified embryos (ACCE Fresh + Frozen). Positive βhCG rate, clinical pregnancy rate, ongoing pregnancy rate, and good quality embryos (%, ±SD) were compared between two groups. Results: There were more good quality embryos in the ACCE Fresh + Frozen group than in the ACCE Frozen group: 60±34.7 versus 42.9±28.9, respectively (p=0.03). Positive βhCG rate [18/64(28.2%) vs. 13/51(25.5%); p=0.75] and clinical pregnancy rate [12/64 (18.8%) vs. 11/51 (10.9%); p=0.71] were comparable between the two groups. Conclusion: Accumulation of vitrified embryos is an effective method in patients with poor ovarian response who fulfill the Bologna criteria. Pregnancy outcomes were comparable between the two groups.

Keywords: accumulation of embryos, frozen embryo transfer, poor responder, Bologna criteria

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8533 A Questionnaire-Based Survey: Therapists Response towards Upper Limb Disorder Learning Tool

Authors: Noor Ayuni Che Zakaria, Takashi Komeda, Cheng Yee Low, Kaoru Inoue, Fazah Akhtar Hanapiah

Abstract:

Previous studies have shown that there are arguments regarding the reliability and validity of the Ashworth and Modified Ashworth Scale towards evaluating patients diagnosed with upper limb disorders. These evaluations depended on the raters’ experiences. This initiated us to develop an upper limb disorder part-task trainer that is able to simulate consistent upper limb disorders, such as spasticity and rigidity signs, based on the Modified Ashworth Scale to improve the variability occurring between raters and intra-raters themselves. By providing consistent signs, novice therapists would be able to increase training frequency and exposure towards various levels of signs. A total of 22 physiotherapists and occupational therapists participated in the study. The majority of the therapists agreed that with current therapy education, they still face problems with inter-raters and intra-raters variability (strongly agree 54%; n = 12/22, agree 27%; n = 6/22) in evaluating patients’ conditions. The therapists strongly agreed (72%; n = 16/22) that therapy trainees needed to increase their frequency of training; therefore believe that our initiative to develop an upper limb disorder training tool will help in improving the clinical education field (strongly agree and agree 63%; n = 14/22).

Keywords: upper limb disorder, clinical education tool, inter/intra-raters variability, spasticity, modified Ashworth scale

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8532 Distant Speech Recognition Using Laser Doppler Vibrometer

Authors: Yunbin Deng

Abstract:

Most existing applications of automatic speech recognition relies on cooperative subjects at a short distance to a microphone. Standoff speech recognition using microphone arrays can extend the subject to sensor distance somewhat, but it is still limited to only a few feet. As such, most deployed applications of standoff speech recognitions are limited to indoor use at short range. Moreover, these applications require air passway between the subject and the sensor to achieve reasonable signal to noise ratio. This study reports long range (50 feet) automatic speech recognition experiments using a Laser Doppler Vibrometer (LDV) sensor. This study shows that the LDV sensor modality can extend the speech acquisition standoff distance far beyond microphone arrays to hundreds of feet. In addition, LDV enables 'listening' through the windows for uncooperative subjects. This enables new capabilities in automatic audio and speech intelligence, surveillance, and reconnaissance (ISR) for law enforcement, homeland security and counter terrorism applications. The Polytec LDV model OFV-505 is used in this study. To investigate the impact of different vibrating materials, five parallel LDV speech corpora, each consisting of 630 speakers, are collected from the vibrations of a glass window, a metal plate, a plastic box, a wood slate, and a concrete wall. These are the common materials the application could encounter in a daily life. These data were compared with the microphone counterpart to manifest the impact of various materials on the spectrum of the LDV speech signal. State of the art deep neural network modeling approaches is used to conduct continuous speaker independent speech recognition on these LDV speech datasets. Preliminary phoneme recognition results using time-delay neural network, bi-directional long short term memory, and model fusion shows great promise of using LDV for long range speech recognition. To author’s best knowledge, this is the first time an LDV is reported for long distance speech recognition application.

Keywords: covert speech acquisition, distant speech recognition, DSR, laser Doppler vibrometer, LDV, speech intelligence surveillance and reconnaissance, ISR

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8531 Prospects of Regenerative Medicine with Human Allogeneic Adipose Tissue-Derived Mesenchymal Stem Cell Sheets: Achievements and Future Outlook in Clinical Trials for Myopic Chorioretinal Atrophy

Authors: Norimichi Nagano, Yoshio Hirano, Tsutomu Yasukawa

Abstract:

Mesenchymal stem cells are thought to confer neuroprotection, facilitate tissue regeneration and exert their effects on retinal degenerative diseases, however, adverse events such as proliferative vitreoretinopathy and preretinal membrane disease associated with cell suspension transplantation have also been reported. We have recently developed human (allogeneic) adipose tissue-derived mesenchymal stem cell (adMSC) sheets through our proprietary sheet transformation technique, which could potentially mitigate these adverse events. To clarify the properties of our adMSC sheets named PAL-222, we performed in vitro studies such as viability testing, cytokine secretions by ELISA, immunohistochemical study, and migration assay. The viability of the cells exceeded 70%. Vascular Endothelial Growth Factor (VEGF) and Pigment Epithelium-Derived Factor (PEDF), which are quite important cytokines for the retinal area, were observed. PAL-222 expressed type I collagen, a strength marker, type IV collagen, a marker of the basement membrane, and elastin, an elasticity marker. Finally, the migration assay was performed and showed negative, which means that PAL-222 is stably kept in the topical area and does not come to pieces. Next, to evaluate the efficacy in vivo, we transplanted PAL-222 into the subretinal space of the eye of Royal College of Surgeons rats with congenital retinal degeneration and assessed it for three weeks after transplantation. We confirmed that PAL-222 suppressed the decrease in the thickness of the outer nuclear layer, which means that the photoreceptor protective effect treated with PAL-222 was significantly higher than that in the sham group. (p < 0.01). This finding demonstrates that PAL-222 showed their retinoprotective effect in a model of congenital retinal degeneration. As the study suggested the efficacy of PAL-222 in both in vitro and in vivo studies, we are presently engaged in clinical trials of PAL-222 for myopic chorioretinal atrophy, which is one of the retinal degenerative diseases, for the purpose of regenerative medicine.

Keywords: cell sheet, clinical trial, mesenchymal stem cell, myopic chorioretinal atrophy

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8530 EEG Neurofeedback Training – Healing the Wounded Brain

Authors: Jamuna Rajeswaran

Abstract:

In the past two decades, with a population of more than a billion. India is passing through a major socio-demographic and epidemiological transition with consequent changes in health scenario. TBI constitute significant burden on health care resources in India The impact on a person and family can be devastating. Patients with TBI experience persistent cognitive deficits, emotional changes, which contribute to the disruption of life activities. The recovery of TBI would be maximized by appropriate rehabilitation. Neurofeedback is an emerging neuroscience-based clinical application. Sixty patients were recruited for this study after obtaining informed consent. Rivermead Head Injury Follow-up Questionnaire, Rivermead Post Concussion Symptoms Questionnaire and Visual Analog Scale were used to assess the behavioral and symptomotolgy associated with post TBI. Neuropsychological assessment was carried out using NIMHANS neuropsychological battery 2004. The Intervention group received neurofeedback training and the waitlist group did not receive any treatment during this phase. Patients were allocated to intervention and waitlist group at random. There were 30 patients in each group. Patients were given 20 sessions of NFT Patients were trained on the O1 and O2 channels for alpha theta training. Each session was of 40 minutes duration with 5-6 sessions per week. The post-training assessment was carried out for the intervention group after 20 sessions of NFT. The waitlist group underwent assessment after one month. Results showed neurofeedback training is effective in ameliorating deficits in cognitive functions and quality of life in patients with TBI. Improvements were corroborated by the clinical interview with patients and significant others post NFT.

Keywords: assessment, rehabilitation, cognition, EEG neurofeedback

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8529 Effect of a Mindfulness Application on Graduate Nursing Student’s Stress and Anxiety

Authors: Susan K. Steele-Moses, Aimee Badeaux

Abstract:

Background Literature: Nurse anesthesia education placed high demands on students both personally and professionally. High levels of anxiety affect student’s mental, emotional, and physical well-being, which impacts their student success. Whereas more research has focused on the health and well-being of graduate students, far less has focused specifically on nurse anesthesia students (SNRAs), who may experience higher levels of anxiety due to the rigor of their academic program. Current literature describes stressors experienced by SRNAs that cause anxiety and affect their performance, including personal, academic, clinical, interpersonal, emotional, and financial. Sample: DNP-NA 2025 and DNP-NA 2024 cohorts (N = 36). Eighteen (66.7%) students participated in the study. Instrumentation: The DASS-21 was used to measure stress (7 items; α = .87) and anxiety (7 items; α = .74) from the participants. Intervention: The mind-shift meditation app, based on cognitive behavioral therapy, is being used daily before clinical and exams to decrease nurse anesthesia students’ stress and anxiety over time. Results: At baseline, the students exhibited a moderate level of stress, but their anxiety levels were low. The range of scores was 4-21 (out of 28) for stress (M = 12.88; SD = 5.40) and 0-16 (out of 28) for anxiety (M = 6.81; SD = 5.04). Both stress and anxiety were normally distributed [SW = .242 (stress); SW = .210 (anxiety)] without any outliers. There was a significant difference between their stress and anxiety levels (t = 5.55; p < .001) at baseline. Stress and anxiety will be measured over time, with the change analyzed using repeated measures ANOVA. Implications for Practice: The use of purposeful mindfulness meditation has been shown to decrease stress and anxiety in nursing students.

Keywords: mindfulness, meditation, graduate nursing education, nursing education

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8528 Quantitative Comparisons of Different Approaches for Rotor Identification

Authors: Elizabeth M. Annoni, Elena G. Tolkacheva

Abstract:

Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia that is a known prognostic marker for stroke, heart failure and death. Reentrant mechanisms of rotor formation, which are stable electrical sources of cardiac excitation, are believed to cause AF. No existing commercial mapping systems have been demonstrated to consistently and accurately predict rotor locations outside of the pulmonary veins in patients with persistent AF. There is a clear need for robust spatio-temporal techniques that can consistently identify rotors using unique characteristics of the electrical recordings at the pivot point that can be applied to clinical intracardiac mapping. Recently, we have developed four new signal analysis approaches – Shannon entropy (SE), Kurtosis (Kt), multi-scale frequency (MSF), and multi-scale entropy (MSE) – to identify the pivot points of rotors. These proposed techniques utilize different cardiac signal characteristics (other than local activation) to uncover the intrinsic complexity of the electrical activity in the rotors, which are not taken into account in current mapping methods. We validated these techniques using high-resolution optical mapping experiments in which direct visualization and identification of rotors in ex-vivo Langendorff-perfused hearts were possible. Episodes of ventricular tachycardia (VT) were induced using burst pacing, and two examples of rotors were used showing 3-sec episodes of a single stationary rotor and figure-8 reentry with one rotor being stationary and one meandering. Movies were captured at a rate of 600 frames per second for 3 sec. with 64x64 pixel resolution. These optical mapping movies were used to evaluate the performance and robustness of SE, Kt, MSF and MSE techniques with respect to the following clinical limitations: different time of recordings, different spatial resolution, and the presence of meandering rotors. To quantitatively compare the results, SE, Kt, MSF and MSE techniques were compared to the “true” rotor(s) identified using the phase map. Accuracy was calculated for each approach as the duration of the time series and spatial resolution were reduced. The time series duration was decreased from its original length of 3 sec, down to 2, 1, and 0.5 sec. The spatial resolution of the original VT episodes was decreased from 64x64 pixels to 32x32, 16x16, and 8x8 pixels by uniformly removing pixels from the optical mapping video.. Our results demonstrate that Kt, MSF and MSE were able to accurately identify the pivot point of the rotor under all three clinical limitations. The MSE approach demonstrated the best overall performance, but Kt was the best in identifying the pivot point of the meandering rotor. Artifacts mildly affect the performance of Kt, MSF and MSE techniques, but had a strong negative impact of the performance of SE. The results of our study motivate further validation of SE, Kt, MSF and MSE techniques using intra-atrial electrograms from paroxysmal and persistent AF patients to see if these approaches can identify pivot points in a clinical setting. More accurate rotor localization could significantly increase the efficacy of catheter ablation to treat AF, resulting in a higher success rate for single procedures.

Keywords: Atrial Fibrillation, Optical Mapping, Signal Processing, Rotors

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8527 Lower Extremity Injuries and Landing Kinematics and Kinetics in University-Level Netball Players

Authors: Henriette Hammill

Abstract:

Background: Safe landing in netball is fundamental. Research on the biomechanics of multidirectional landings is lacking, especially among netball players. Furthermore, few studies reporting the associations between lower extremity injuries and landing kinematics and kinetics in university-level netball players have been undertaken. Objectives: The aim is to determine the relationships between lower extremity injuries and landing kinematics and kinetics in university-level netball players that have been undertaken during a single season. Methods: This cross-sectional repeated measure study consisted of ten university-level female netball players. The injury prevalence data was collected during the 2022 netball season. The kinematic and kinetic data were collected during multidirectional single-leg landing trials and was collected. Results: Generally, the ankle strength of netball players was below average. There was evidence of negative correlations between the ankle range of motion (ROM), and muscle activity amplitudes. A lack of evidence precluded the conclusion that lower extremity dominance was a predisposing factor for injury and that any specific body part was most likely to be injured among netball players. Conclusion: Landing forces and muscle activity are direction-dependent, especially for the dominant extremity. Lower extremity strength and neuromuscular control (NMC) across multiple jump-landing directions should be an area of focus for female netball players.

Keywords: netball players, landing kinetics, landing kinematics, lower extremity

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8526 Discrimination and Classification of Vestibular Neuritis Using Combined Fisher and Support Vector Machine Model

Authors: Amine Ben Slama, Aymen Mouelhi, Sondes Manoubi, Chiraz Mbarek, Hedi Trabelsi, Mounir Sayadi, Farhat Fnaiech

Abstract:

Vertigo is a sensation of feeling off balance; the cause of this symptom is very difficult to interpret and needs a complementary exam. Generally, vertigo is caused by an ear problem. Some of the most common causes include: benign paroxysmal positional vertigo (BPPV), Meniere's disease and vestibular neuritis (VN). In clinical practice, different tests of videonystagmographic (VNG) technique are used to detect the presence of vestibular neuritis (VN). The topographical diagnosis of this disease presents a large diversity in its characteristics that confirm a mixture of problems for usual etiological analysis methods. In this study, a vestibular neuritis analysis method is proposed with videonystagmography (VNG) applications using an estimation of pupil movements in the case of an uncontrolled motion to obtain an efficient and reliable diagnosis results. First, an estimation of the pupil displacement vectors using with Hough Transform (HT) is performed to approximate the location of pupil region. Then, temporal and frequency features are computed from the rotation angle variation of the pupil motion. Finally, optimized features are selected using Fisher criterion evaluation for discrimination and classification of the VN disease.Experimental results are analyzed using two categories: normal and pathologic. By classifying the reduced features using the Support Vector Machine (SVM), 94% is achieved as classification accuracy. Compared to recent studies, the proposed expert system is extremely helpful and highly effective to resolve the problem of VNG analysis and provide an accurate diagnostic for medical devices.

Keywords: nystagmus, vestibular neuritis, videonystagmographic system, VNG, Fisher criterion, support vector machine, SVM

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8525 Effects of Applying Low-Dye Taping in Performing Double-Leg Squat on Electromyographic Activity of Lower Extremity Muscles for Collegiate Basketball Players with Excessive Foot Pronation

Authors: I. M. K. Ho, S. K. Y. Chan, K. H. P. Lam, G. M. W. Tong, N. C. Y. Yeung, J. T. C. Luk

Abstract:

Low-dye taping (LDT) is commonly used for treating foot problems, such as plantar fasciitis, and supporting foot arch for runners and non-athletes patients with pes planus. The potential negative impact of pronated feet leading to tibial and femoral internal rotation via the entire kinetic chain reaction was postulated and identified. The changed lower limb biomechanics potentially leading to poor activation of hip and knee stabilizers, such as gluteus maximus and medius, may associate with higher risk of knee injuries including patellofemoral pain syndrome and ligamentous sprain in many team sports players. It is therefore speculated that foot arch correction with LDT might enhance the use of gluteal muscles. The purpose of this study was to investigate the effect of applying LDT on surface electromyographic (sEMG) activity of superior gluteus maximus (SGMax), inferior gluteus maximus (IGMax), gluteus medius (GMed) and tibialis anterior (TA) during double-leg squat. 12 male collegiate basketball players (age: 21.72.5 years; body fat: 12.43.6%; navicular drop: 13.72.7mm) with at least three years regular basketball training experience participated in this study. Participants were excluded if they had recent history of lower limb injuries, over 16.6% body fat and lesser than 10mm drop in navicular drop (ND) test. Recruited subjects visited the laboratory once for the within-subject crossover study. Maximum voluntary isometric contraction (MVIC) tests on all selected muscles were performed in randomized order followed by sEMG test on double-leg squat during LDT and non-LDT conditions in counterbalanced order. SGMax, IGMax, GMed and TA activities during the entire 2-second concentric and 2-second eccentric phases were normalized and interpreted as %MVIC. The magnitude of the difference between taped and non-taped conditions of each muscle was further assessed via standardized effect90% confidence intervals (CI) with non-clinical magnitude-based inference. Paired samples T-test showed a significant decrease (4.71.4mm) in ND (95% CI: 3.8, 5.6; p < 0.05) while no significant difference was observed between taped and non-taped conditions in sEMG tests for all muscles and contractions (p > 0.05). On top of traditional significant testing, magnitude-based inference showed possibly increase in IGMax activity (small standardized effect: 0.270.44), likely increase in GMed activity (small standardized effect: 0.340.34) and possibly increase in TA activity (small standardized effect: 0.220.29) during eccentric phase. It is speculated that the decrease of navicular drop supported by LDT application could potentially enhance the use of inferior gluteus maximus and gluteus medius especially during eccentric phase in this study. As the eccentric phase of double-leg squat is an important component of landing activities in basketball, further studies on the onset and amount of gluteal activation during jumping and landing activities with LDT are recommended. Since both hip and knee kinematics were not measured in this study, the underlying cause of the observed increase in gluteal activation during squat after LDT is inconclusive. In this regard, the investigation of relationships between LDT application, ND, hip and knee kinematics, and gluteal muscle activity during sports specific jumping and landing tasks should be focused in the future.

Keywords: flat foot, gluteus maximus, gluteus medius, injury prevention

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8524 High-Voltage Resonant Converter with Extreme Load Variation: Design Criteria and Applications

Authors: Jose A. Pomilio, Olavo Bet, Mateus P. Vieira

Abstract:

The power converter that feeds high-frequency, high-voltage transformers must be carefully designed due to parasitic components, mainly the secondary winding capacitance and the leakage inductance, that introduces resonances in relatively low-frequency range, next to the switching frequency. This paper considers applications in which the load (resistive) has an unpredictable behavior, changing from open to short-circuit condition faster than the output voltage control loop could react. In this context, to avoid over voltage and over current situations, that could damage the converter, the transformer or the load, it is necessary to find an operation point that assure the desired output voltage in spite of the load condition. This can done adjusting the frequency response of the transformer adding an external inductance, together with selecting the switching frequency to get stable output voltage independently of the load.

Keywords: high-voltage transformer, resonant converter, soft-commutation, external inductance

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8523 Osteosuture in Fixation of Displaced Lateral Third Clavicle Fractures: A Case Report

Authors: Patrícia Pires, Renata Vaz, Bárbara Teles, Marco Pato, Pedro Beckert

Abstract:

Introduction: The management of lateral third clavicle fractures can be challenging due to difficulty in distinguishing subtle variations in the fracture pattern, which may be suggestive of potential fracture instability. They occur most often in men between 30 and 50 years of age, and in individuals over 70 years of age, its distribution is equal between both men and women. These fractures account for 10%–30% of all clavicle fractures and roughly 30%–45% of all clavicle nonunion fractures. Lateral third clavicle fractures may be treated conservatively or surgically, and there is no gold standard, although the risk of nonunion or pseudoarthrosis impacts the recommendation of surgical treatment when these fractures are unstable. There are many strategies for surgical treatment, including locking plates, hook plates fixation, coracoclavicular fixation using suture anchors, devices or screws, tension band fixation with suture or wire, transacromial Kirschner wire fixation and arthroscopically assisted techniques. Whenever taking the hardware into consideration, we must not disregard that obtaining adequate lateral fixation of small fragments is a difficult task, and plates are more associated to local irritation. The aim of the appropriate treatment is to ensure fracture healing and a rapid return to preinjury activities of daily living but, as explained, definitive treatment strategies have not been established and the variety of techniques avalilable add up to the discussion of this topic. Methods and Results: We present a clinical case of a 43-year-old man with the diagnosis of a lateral third clavicle fracture (Neer IIC) in the sequence of a fall on his right shoulder after a bicycle fall. He was operated three days after the injury, and through K-wire temporary fixation and indirect reduction using a ZipTight, he underwent osteosynthesis with an interfragmentary figure-of-eight tension band with polydioxanone suture (PDS). Two weeks later, there was a good aligment. He kept the sling until 6 weeks pos-op, avoiding efforts. At 7-weeks pos-op, there was still a good aligment, starting the physiotherapy exercises. After 10 months, he had no limitation in mobility or pain and returned to work with complete recovery in strength. Conclusion: Some distal clavicle fractures may be conservatively treated, but it is widely accepted that unstable fractures require surgical treatment to obtain superior clinical outcomes. In the clinical case presented, the authors chose an osteosuture technique due to the fracture pattern, its location. Since there isn´t a consensus on the prefered fixation method, it is important for surgeons to be skilled in various techniques and decide with their patient which approach is most appropriate for them, weighting the risk-benefit of each method. For instance, with the suture technique used, there is no wire migration or breakage, and it doesn´t require a reoperation for hardware removal; there is also less tissue exposure since it requires a smaller approach in comparison to the plate fixation and avoids cuff tears like the hook plate. The good clinical outcome on this case report serves the purpose of expanding the consideration of this method has a therapeutic option.

Keywords: lateral third, clavicle, suture, fixation

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8522 Report of Candida Auris: An Emerging Fungal Pathogen in a Tertiary Healthcare Facility in Ekiti State, Nigeria

Authors: David Oluwole Moses, Odeyemi Adebowale Toba, Olawale Adetunji Kola

Abstract:

Candida auris, an emerging fungus, has been reported in more than 30 countries around the world since its first detection in 2009. Due to its several virulence factors, resistance to antifungals, and persistence in hospital settings, Candida auris has been reported to cause treatment-failure infections. This study was therefore carried out to determine the incidence of Candida auris in a tertiary hospital in Ekiti State, Nigeria. In this study, a total of 115 samples were screened for Candida species using cultural and molecular methods. The carriage of virulence factors and antifungal resistance among C. auris was detected using standard microbiological methods. Candida species isolated from the samples were 15 (30.0%) in clinical samples and 22 (33.85%) in hospital equipment screened. Non-albicans Candida accounted for 3 (20%) and 8 (36.36%) among the isolates from the clinical samples and equipment, respectively. Only five of the non-albicans Candida isolates were C. auris. All the isolates produced biofilm, gelatinase, and hemolysin, while none produced germ tubes. Two of the isolates were resistant to all the antifungals tested. Also, all the isolates were resistant to fluconazole and itraconazole. Nystatin appeared to be the most effective among the tested antifungals. The isolation of Candida auris is being reported for the second time in Nigeria, further confirming that the fungus has spread beyond Lagos and Ibadan, where it was first reported. The extent of the spread of the nosocomial fungus needed to be further investigated and curtailed in Nigeria before its outbreak in healthcare facilities.

Keywords: candida auris, virulence factors, antifungals, pathogen, hospital, infection

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8521 Size Selective Synthesis of Sulfur Nanoparticles and Their Anticancer Activity

Authors: Anas Al-Ali, Mohammed Suleiman, Ayman Hussein

Abstract:

Sulfur is an important element has many practical applications in present as nanoparticles. Nanosize sulfur particles also have many important applications like in pharmaceuticals, medicine, syn-thesis of nano-composites for lithium batteries, modification of carbon nano tubes. Different methods were used for nano-sized particle synthesis; among those, chemical precipitation, electrochemical method, micro emulsion technique, composing of oil, surfactant, co-surfactant, aqueous phases with the specific compositions and ultrasonic treatment of sulfur-cystine solution. In this work Sulfur nanoparticles (S NPs) were prepared by a quick precipitation method with and without using a surfactant to stabilize the formed S NPs. The synthesized S NPs were characterized by XRD, SEM and TEM in order to confirm their sizes and structures.Application of nanotechnology is suggested for diag-nosis and treatment of cancer. The anticancer activity of the prepared S NPs has been tested on various types of cancer cell clones including leukemia, kidney and colon cancers.

Keywords: sulfur nanoparticles (S-NPs), TEM, SEM, XRD

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8520 Emergence of Information Centric Networking and Web Content Mining: A Future Efficient Internet Architecture

Authors: Sajjad Akbar, Rabia Bashir

Abstract:

With the growth of the number of users, the Internet usage has evolved. Due to its key design principle, there is an incredible expansion in its size. This tremendous growth of the Internet has brought new applications (mobile video and cloud computing) as well as new user’s requirements i.e. content distribution environment, mobility, ubiquity, security and trust etc. The users are more interested in contents rather than their communicating peer nodes. The current Internet architecture is a host-centric networking approach, which is not suitable for the specific type of applications. With the growing use of multiple interactive applications, the host centric approach is considered to be less efficient as it depends on the physical location, for this, Information Centric Networking (ICN) is considered as the potential future Internet architecture. It is an approach that introduces uniquely named data as a core Internet principle. It uses the receiver oriented approach rather than sender oriented. It introduces the naming base information system at the network layer. Although ICN is considered as future Internet architecture but there are lot of criticism on it which mainly concerns that how ICN will manage the most relevant content. For this Web Content Mining(WCM) approaches can help in appropriate data management of ICN. To address this issue, this paper contributes by (i) discussing multiple ICN approaches (ii) analyzing different Web Content Mining approaches (iii) creating a new Internet architecture by merging ICN and WCM to solve the data management issues of ICN. From ICN, Content-Centric Networking (CCN) is selected for the new architecture, whereas, Agent-based approach from Web Content Mining is selected to find most appropriate data.

Keywords: agent based web content mining, content centric networking, information centric networking

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8519 A New Resonance Solution to Suppress the Voltage Stresses in the Forward Topology Used in a Switch Mode Power Supply

Authors: Maamar Latroch, Mohamed Bourahla

Abstract:

Forward topology used in switch mode power supply (SMPS) is one of the most famous configuration feeding DC systems such as telecommunication systems and other specific applications where the galvanic isolation is required. This configuration benefits of the high frequency feature of the transformer to provide a small size and light weight of the over all system. However, the stresses existing on the power switch during an ON/OFF commutation limit the transmitted power to the DC load. This paper investigates the main causes of the stresses in voltage existing during a commutation cycle and suggest a low cost solution that eliminates the overvoltage. As a result, this configuration will yield the possibility of the use of this configuration in higher power applications. Simulation results will show the efficiency of the presented method.

Keywords: switch mode power supply, forward topology, resonance topology, high frequency commutation

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8518 Effects of Cuminum cyminum L. Essential Oil Supplementation on Components of Metabolic Syndrome: A Clinical Trial

Authors: Ashti Morovati, Hushyar Azari, Bahram Pourghassem Gargari

Abstract:

Objectives and goals: The prevalence of metabolic syndrome (MetS), as a major health burden for societies, is increasing. This clinical trial was conducted to evaluate the effects of CuEO supplementation on anthropometric indices, systolic and diastolic blood pressure, blood glucose level, insulin resistance and serum lipid level in patients suffering from MetS. Methods: This was a randomized, triple‐blind, placebo‐controlled clinical trial in which 56 patients with MetS aged 18–60 years who fulfilled the eligibility criteria were randomly allocated to an intervention or a control group. Inclusion criteria for the study were comprised of diagnosis of MetS according to the new International Federation of Diabetes. The exclusion criteria were defined as: taking herbal supplements, use of drugs having evident interaction with cumin such as anti‐depressant drugs, vitamin D, omega 3, selenium, zinc, smoking, pregnancy, or breastfeeding, suffering from cancer, having any history of gastrointestinal and hepatic, cardiovascular, thyroid and kidney disorders, and menopause. 75 mg CuEO or placebo soft gels were administered three times daily to the participants for eight weeks. The soft gel consumption was checked by asking the participants to bring the medication containers in the follow‐up visits at the 4th and the 8th weeks of the study. Data pertaining to blood pressure, height, weight, waist circumference, hip circumference and BMI, as well as food consumption were collected at the beginning and end of the study. Fasting blood samples ( glucose, triglyceride, total cholesterol, HDL-cholesterol and LDL-cholesterol) were obtained and biochemical measurements were assessed at the beginning and end of the study. Results: At eight weeks, a total of 44 patients completed this study. Except for diastolic blood pressure (DBP), the other assessed variables were not significantly different between the two groups. In intra group analysis, placebo and CuEO groups both had insignificant decrements in DBP (mean difference [MD] with 95% CI: −3.31 [−7.11, 0.47] and −1.77 [−5.95, 2.40] mmHg, respectively). However, DBP was significantly lower in CuEO compared with the placebo group at the end of study (81.41 ± 5.88 vs. 84.09 ± 5.54 mmHg, MD with 95% CI: −3.98 [−7.60, −0.35] mmHg, p < .05). Conclusions: The results of this study indicated that CuEO does not have any effect on MetS components, except for DBP in patients with MetS.

Keywords: blood pressure, fasting blood glucose, lipid profile, waist circumference

Procedia PDF Downloads 148
8517 Size Selective Synthesis of Sulfur Nanoparticles and Their Anti Cancer Activity

Authors: Anas Al-Ali, Mohammed Suleiman, Ayman Hussein

Abstract:

Sulfur is an important element has many practical applications in present as nanoparticles. Nanosize sulfur particles also have many important applications like in pharmaceuticals, medicine, synthesis of nanocomposites for lithium batteries, modification of carbon nanotubes. Different methods were used for nano-sized particle synthesis; among those, chemical precipitation, electrochemical method, micro-emulsion technique, composing of oil, surfactant, co-surfactant, aqueous phases with the specific compositions and ultrasonic treatment of sulfur-cystine solution. In this work, sulfur nanoparticles (S NPs) were prepared by a quick precipitation method with and without using a surfactant to stabilize the formed S NPs. The synthesized S NPs were characterized by XRD, SEM, and TEM in order to confirm their sizes and structures. Application of nanotechnology is suggested for diagnosis and treatment of cancer. The anticancer activity of the prepared S NPs has been tested on various types of cancer cell clones including leukemia, kidney and colon cancers.

Keywords: sulfur nanoparticles (S-NPs), TEM, SEM, anti cancer activity, XRD

Procedia PDF Downloads 513
8516 Parametric Analysis of Water Lily Shaped Split Ring Resonator Loaded Fractal Monopole Antenna for Multiband Applications

Authors: C. Elavarasi, T. Shanmuganantham

Abstract:

A coplanar waveguide (CPW) feed is presented, and comprising a split ring resonator (SRR) loaded fractal with water lily shape is used for multi band applications. The impedance matching of the antenna is determined by the number of Koch curve fractal unit cells. The antenna is designed on a FR4 substrate with a permittivity of εr = 4.4 and size of 14 x 16 x 1.6 mm3 to generate multi resonant mode at 3.8 GHz covering S band, 8.68 GHz at X band, 13.96 GHz at Ku band, and 19.74 GHz at K band with reflection coefficient better than -10 dB. Simulation results show that the antenna exhibits the desired voltage standing wave ratio (VSWR) level and radiation patterns across the wide frequency range. The fundamental parameters of the antenna such as return loss, VSWR, good radiation pattern with reasonable gain across the operating bands are obtained.

Keywords: fractal, metamaterial, split ring resonator, waterlily shape

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8515 The Neutrophil-to-Lymphocyte Ratio after Surgery for Hip Fracture in a New, Simple, and Objective Score to Predict Postoperative Mortality

Authors: Philippe Dillien, Patrice Forget, Harald Engel, Olivier Cornu, Marc De Kock, Jean Cyr Yombi

Abstract:

Introduction: Hip fracture precedes commonly death in elderly people. Identification of high-risk patients may contribute to target patients in whom optimal management, resource allocation and trials efficiency is needed. The aim of this study is to construct a predictive score of mortality after hip fracture on the basis of the objective prognostic factors available: Neutrophil-to-lymphocyte ratio (NLR), age, and sex. C-Reactive Protein (CRP), is also considered as an alternative to the NLR. Patients and methods: After the IRB approval, we analyzed our prospective database including 286 consecutive patients with hip fracture. A score was constructed combining age (1 point per decade above 74 years), sex (1 point for males), and NLR at postoperative day+5 (1 point if >5). A receiver-operating curve (ROC) curve analysis was performed. Results: From the 286 patients included, 235 were analyzed (72 males and 163 females, 30.6%/69.4%), with a median age of 84 (range: 65 to 102) years, mean NLR values of 6.47+/-6.07. At one year, 82/280 patients died (29.3%). Graphical analysis and log-rank test confirm a highly statistically significant difference (P<0.001). Performance analysis shows an AUC of 0.72 [95%CI 0.65-0.79]. CRP shows no advantage on NLR. Conclusion: We have developed a score based on age, sex and the NLR to predict the risk of mortality at one year in elderly patients after surgery for a hip fracture. After external validation, it may be included in clinical practice as in clinical research to stratify the risk of postoperative mortality.

Keywords: neutrophil-to-lymphocyte ratio, hip fracture, postoperative mortality, medical and health sciences

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8514 Regulating Nanocarrier and Mononuclear Phagocyte System Interactions through Esomeprazole-Based Preconditioning Strategy

Authors: Zakia Belhadj, Bing He, Hua Zhang, Xueqing Wang, Wenbing Dai, Qiang Zhang

Abstract:

Mononuclear phagocyte system (MPS) forms an abominable obstacle hampering the tumor delivery efficiency of nanoparticles. Passively targeted nanocarriers have received clinical approval over the past 20 years. However, none of the actively targeted nanocarriers have entered clinical trials. Thus it is important to endue effective targeting ability to actively targeted approaches by overcoming biological barriers to nanoparticle drug delivery. Here, it presents that an Esomeprazole-based preconditioning strategy for regulating nanocarrier-MPS interaction to substantially prolong circulation time and enhance tumor targeting of nanoparticles. In vitro, the clinically approved proton pump inhibitor Esomeprazole “ESO” was demonstrated to reduce interactions between macrophages and subsequently injected targeted vesicles by interfering with their lysosomal trafficking. Of note, in vivo studies demonstrated that ESO pretreatment greatly decreased the liver and spleen uptake of c(RGDm7)-modified vesicles, highly enhanced their tumor accumulation, thereby provided superior therapeutic efficacy of c(RGDm7)-modified vesicles co-loaded with Doxorubicin (DOX) and Gefitinib (GE). This MPS-preconditioning strategy using ESO provides deeper insights into regulating nanoparticles interaction with the phagocytic system and enhancing their cancer cells' accessibility for anticancer therapy.

Keywords: esomeprazole (ESO), mononuclear phagocyte system (MPS), preconditioning strategy, targeted lipid vesicles

Procedia PDF Downloads 174
8513 The Impact of Streptococcus pneumoniae Colonization on Viral Bronchiolitis

Authors: K. Genise, S. Murthy

Abstract:

Introductory Statement: The results of this retrospective chart review suggest the effects of bacterial colonization in critically ill children with viral bronchiolitis, currently unproven, are clinically insignificant. Background: Viral bronchiolitis is one of the most prevalent causes of illness requiring hospitalization among children worldwide and one of the most common reasons for admission to pediatric intensive care. It has been hypothesized that co-infection with bacteria results in more severe clinical outcomes. Conversely, the effects of bacterial colonization in critically ill patients with bronchiolitis are poorly defined. Current clinical management of colonized patients consists primarily of supportive therapies with the role of antibiotics remaining controversial. Methods: A retrospective review of all critically ill children admitted to the BC Children’s Hospital Pediatric Intensive Care Unit (PICU) from 2014-2017 with a diagnosis of bronchiolitis was performed. Routine testing in this time frame consisted of complete pathogen testing, including PCR for Streptococcus pneumoniae. Analyses were performed to determine the impact of bacterial colonization and antibiotic use on a primary outcome of PICU length-of-stay, with secondary outcomes of hospital length-of-stay and duration of ventilation. Results: There were 92 patients with complete pathogen testing performed during the assessed timeframe. A comparison between children with detected Streptococcus pneumoniae (n=22) and those without (n=70) revealed no significant (p=0.20) differences in severity of illness on presentation as per Pediatric Risk of Mortality III scores (mean=3.0). Patients colonized with S. pneumoniae had significantly shorter PICU stays (p=0.002), hospital stays (p=0.0001) and duration of non-invasive ventilation (p=0.002). Multivariate analyses revealed that these effects on length of PICU stay and duration of ventilation do not persist after controlling for antibiotic use, presence of radiographic consolidation, age, and severity of illness (p=0.15, p=0.32). The relationship between colonization and duration of hospital stay persists after controlling for these variables (p=0.008). Conclusions: Children with viral bronchiolitis colonized with S. pneumoniae do not appear to have significantly different PICU length-of-stays or duration of ventilation compared to children who are not colonized. Colonized children appear to have shorter hospital stays. The results of this study suggest bacterial colonization is not associated with increased severity of presenting illness or negative clinical outcomes.

Keywords: bronchiolitis, colonization, critical care, pediatrics, pneumococcal, infection

Procedia PDF Downloads 513
8512 Synthesis of Nickel Oxide Nanoparticles in Presence of Sodium Dodecyl Sulphate

Authors: Fereshteh Chekin, Sepideh Sadeghi

Abstract:

Nickel nanoparticles have attracted much attention because of applications in catalysis, medical diagnostics and magnetic applications. In this work, we reported a simple and low-cost procedure to synthesize nickel oxide nanoparticles (NiO-NPs) by using sodium dodecyl sulphate (SDS) and gelatin as stabilizer. The synthesized NiO-NPs were characterized by a variety of means such as transmission electron microscope (TEM), powder X-ray diffraction (XRD), scanning electron microscope (SEM) and UV-vis spectroscopy. The results show that the NiO nanoparticles with high crystalline can be obtained using this simple method. The grain size measured by TEM was 16 in presence of SDS, which agrees well with the XRD data. SDS plays an important role in the formation of the NiO nanoparticles. Moreover, the NiO nanoparticles have been used as a solid phase catalyst for the decomposition of hydrazine hydrate at room temperatures. The decomposition process has been monitored by UV–vis analysis. The present study showed that nanoparticles are not poisoned after their repeated use in decomposition of hydrazine.

Keywords: nickel oxide nanoparticles, sodium dodecyl sulphate, synthesis, stabilizer

Procedia PDF Downloads 481
8511 Seed Priming, Treatments and Germination

Authors: Atakan Efe Akpınar, Zeynep Demir

Abstract:

Seed priming technologies are frequently used nowadays to increase the germination potential and stress tolerance of seeds. These treatments might be beneficial for native species as well as crops. Different priming treatments can be used depending on the type of plant, the morphology, and the physiology of the seed. Moreover, these may be various physical, chemical, and/or biological treatments. Aiming to improve studies about seed priming, ideas need to be brought into this technological sector related to the agri-seed industry. In this study, seed priming was carried out using some plant extracts. Firstly, some plant extracts prepared from plant leaves, roots, or fruit parts were obtained for use in priming treatments. Then, seeds were kept in solutions containing plant extracts at 20°C for 48 hours. Seeds without any treatment were evaluated as the control group. At the end of priming applications, seeds are dried superficially at 25°C. Seeds were analyzed for vigor (normal germination rate, germination time, germination index etc.). In the future, seed priming applications can expand to multidisciplinary research combining with digital, bioinformatic and molecular tools.

Keywords: seed priming, plant extracts, germination, biology

Procedia PDF Downloads 73
8510 Engaging Medical Students in Research through Student Research Mentorship Programme

Authors: Qi En Han, Si En Wai, Eugene Quek

Abstract:

As one of the two Academic Medical Centres (AMCs) in Singapore, SingHealth Duke-NUS AMC strives to improve patients’ lives through excellent clinical care, research and education. These efforts are enhanced with the establishment of Academic Clinical Programmes (ACPs). Each ACP brings together specialists in a particular discipline from different institutions to maximize the power of shared knowledge and resources. Initiated by Surgery ACP, the student research mentorship programme is a programme designed to facilitate engagement between medical students and the surgical faculty. The programme offers mentors not only the opportunity to supervise research but also to nurture future clinician scientists. In turn, medical students acquire valuable research experience which may be useful in their future careers. The programme typically lasts one year, depending on the students’ commitment. Surgery ACP matches students’ research interests with the mentor's area of expertise whenever possible. Surgery ACP organizes informal tea sessions to bring students and prospective mentors together. Once a match is made, the pair is required to submit a project proposal which includes the title, proposed start and end dates, ethical and biosafety considerations and project details. The mentees either think of their own research question with guidance from the mentors or join an existing project. The mentees may participate in data collection, data analysis, manuscript writing and conference presentation. The progress of each research project is monitored through half-yearly progress report. The mentees report problems encountered or changes made to existing proposal on top of the progress made. A total of 18 mentors were successfully paired with 36 mentees since 2013. Currently, there are 23 on-going and 13 completed projects. The mentees are encouraged to present their projects at conferences and to publish in peer-reviewed journals. Six mentees have presented their completed projects at local or international conferences and one mentee has her work published. To further support student research, Surgery ACP organized a Research Day in 2015 to recognize their research efforts and to showcase their wide-range of research. Surgery ACP recognizes that early exposure of medical students to research is important in developing them into clinician scientists. As interest in research take time to develop and are usually realized during various research attachments, it is crucial that programmes such as the student research mentorship programme exist. Surgery ACP will continue to build on this programme.

Keywords: academic clinical programme, clinician scientist, medical student, mentoring

Procedia PDF Downloads 216
8509 Hydrodynamic Analysis with Heat Transfer in Solid Gas Fluidized Bed Reactor for Solar Thermal Applications

Authors: Sam Rasoulzadeh, Atefeh Mousavi

Abstract:

Fluidized bed reactors are known as highly exothermic and endothermic according to uniformity in temperature as a safe and effective mean for catalytic reactors. In these reactors, a wide range of catalyst particles can be used and by using a continuous operation proceed to produce in succession. Providing optimal conditions for the operation of these types of reactors will prevent the exorbitant costs necessary to carry out laboratory work. In this regard, a hydrodynamic analysis was carried out with heat transfer in the solid-gas fluidized bed reactor for solar thermal applications. The results showed that in the fluid flow the input of the reactor has a lower temperature than the outlet, and when the fluid is passing from the reactor, the heat transfer happens between cylinder and solar panel and fluid. It increases the fluid temperature in the outlet pump and also the kinetic energy of the fluid has been raised in the outlet areas.

Keywords: heat transfer, solar reactor, fluidized bed reactor, CFD, computational fluid dynamics

Procedia PDF Downloads 174
8508 Effect of Core Stability Exercises on Trunk Proprioception in Healthy Adult Individuals

Authors: Omaima E. S. Mohammed, Amira A. A. Abdallah, Amal A. M. El Borady

Abstract:

Background: Core stability training has recently attracted attention for improving muscle performance. Purpose: This study investigated the effect of beginners' core stability exercises on trunk active repositioning error at 30° and 60° trunk flexion. Methods: Forty healthy males participated in the study. They were divided into two equal groups; experimental “group I” and control “group II”. Their mean age, weight and height were 19.35±1.11 vs 20.45±1.64 years, 70.15±6.44 vs 72.45±6.91 kg and 174.7±7.02 vs 176.3±7.24 cm for group I vs group II. Data were collected using the Biodex Isokinetic system at an angular velocity of 60º/s. The participants were tested twice; before and after a 6-week period during which group I performed a core stability training program. Results: The Mixed 3-way ANOVA revealed significant increases (p<0.05) in the absolute error (AE) at 30˚ compared with 60˚ flexion in the pre-test condition of group I and II and the post-test condition of group II. Moreover, there were significant decreases (p<0.05) in the AE in the post-test condition compared with the pre-test in group I at both 30˚ and 60˚ flexion with no significant differences for group II. Finally, there were significant decreases (p<0.05) in the AE in group I compared with group II in the post-test condition at 30˚ and 60˚ flexion with no significant differences for the pre-test condition Interpretation/Conclusion: The improvement in trunk proprioception indicated by the decrease in the active repositioning error in the experimental group recommends including core stability training in the exercise programs that aim to improve trunk proprioception.

Keywords: core stability, isokinetic, trunk proprioception, biomechanics

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8507 A Comprehensive Review of Artificial Intelligence Applications in Sustainable Building

Authors: Yazan Al-Kofahi, Jamal Alqawasmi.

Abstract:

In this study, a comprehensive literature review (SLR) was conducted, with the main goal of assessing the existing literature about how artificial intelligence (AI), machine learning (ML), deep learning (DL) models are used in sustainable architecture applications and issues including thermal comfort satisfaction, energy efficiency, cost prediction and many others issues. For this reason, the search strategy was initiated by using different databases, including Scopus, Springer and Google Scholar. The inclusion criteria were used by two research strings related to DL, ML and sustainable architecture. Moreover, the timeframe for the inclusion of the papers was open, even though most of the papers were conducted in the previous four years. As a paper filtration strategy, conferences and books were excluded from database search results. Using these inclusion and exclusion criteria, the search was conducted, and a sample of 59 papers was selected as the final included papers in the analysis. The data extraction phase was basically to extract the needed data from these papers, which were analyzed and correlated. The results of this SLR showed that there are many applications of ML and DL in Sustainable buildings, and that this topic is currently trendy. It was found that most of the papers focused their discussions on addressing Environmental Sustainability issues and factors using machine learning predictive models, with a particular emphasis on the use of Decision Tree algorithms. Moreover, it was found that the Random Forest repressor demonstrates strong performance across all feature selection groups in terms of cost prediction of the building as a machine-learning predictive model.

Keywords: machine learning, deep learning, artificial intelligence, sustainable building

Procedia PDF Downloads 63
8506 A Case of Osteopetrosis Diagnosed with Nystagmus

Authors: Zerrin Orbak, Busra Demir

Abstract:

Osteopetrosis is a rare genetic disease characterized by impaired bone resorption and increased bone sclerosis. Clinical presentation is very different in osteopetrosis. It can be asymptomatic or can be seen with typical symptoms. Here, a case of osteopetrosis was presented when evaluated for nystagmus. She was 10 months old. Parents were second-degree relatives. On physical examination, pigeon chest deformity and horizontal nystagmus were observed. There was a failure of thrive but no fracture. The cardiovascular examination was normal. Cranial, vertebral and long bone roentgenograms revealed characteristic deformities of osteopetrosis and diffuse sclerosis. The diagnosis was confirmed by genetic testing. A Homozygous mutation was detected in the TNFRSF11A gene (c.508A>G p.(Arg170Gly)). RANKL is encoded by the tumor necrosis factor ligand superfamily member 11 (TNFSF11) gene, and the binding to its receptor RANK, encoded by the TNFRSF11A gene, determines the activation of the downstream pathway that drives osteoclast differentiation and activation (51). The complete absence of osteoclasts is the key feature of the osteoclast-poor form of osteopetrosis (46). Patients are characterized by the absence of TRAP-positive osteoclasts in bone biopsies. The osteoclast-poor subtype of osteopetrosis caused by mutations in TNFSF11 gene is ultra-rare in humans. Clinical presentation is usually severe, with onset in early infancy or in fetal life. But here, a case was presented with horizontal nystagmus. A case presented with horizontal nystagmus, which was evaluated by neurology and diagnosed incidentally, was shared.

Keywords: osteopetrosis, nystagmus, bone, osteoclast-poor

Procedia PDF Downloads 83