Search results for: rare disorders

Authors: Mohamed Wahba

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Objective: To build a comparative arm for product (X) in specific gene mutated advanced gastrointestinal cancer using real world evidence to fulfill HTA requirements in drug evaluation. Methods: Data for product (X) were collected from phase II clinical trial while real world data for (Y) and (Z) were collected from US database. Real-world (RW) cohorts were matched to clinical trial base line characteristics using weighting by odds method. Outcomes included progression-free survival (PFS) and overall survival (OS) rates. Study location and participants: Internationally (product X, n=80) and from USA (Product Y and Z, n=73) Results: Two comparisons were made: trial cohort 1 (X) versus real-world cohort 1 (Z), trial cohort 2 (X) versus real-world cohort 2 (Y). For first line, the median OS was 9.7 months (95% CI 8.6- 11.5) and the median PFS was 5.2 months (95% CI 4.7- not reached) for real-world cohort 1. For second line, the median OS was 10.6 months (95% CI 4.7- 27.3) for real-world cohort 2 and the median PFS was 5.0 months (95% CI 2.1- 29.3). For OS analysis, results were statistically significant but not for PFS analysis. Conclusion: This study provided the clinical comparative outcomes needed for HTA evaluation.

Keywords: real world evidence, pharmacoeconomics, HTA agencies, oncology

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Authors: Gerardo Hernández Sierra

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Today, we are exposed to different anxiogenic stimuli, some of those stimuli (such as traffic, noise, etc.) generates anxiety in people, being the anxiety a factor that can develop different disorders in people. Therefore, and to improve the quality of life of people it is necessary to find new and helpful tools according to the times we’re living to decrease their anxiety state. Moreover, video games are consolidated globally as a way of interactive entertainment characterized by being available to many people, being fun and easy to play. Even so, people reports that they like playing videogames because they decrease their stress (an anxiety detonator). This research will seek the effectiveness of some videogame genres to reduce the intensity of state anxiety in students. Using State Trait Anxiety Inventory (STAI) to do a monitoring of the levels of anxiety pre and post displayed the videogames.

Keywords: anxiety, state trait anxiety inventory (STAI), stress, videogames

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Authors: Murray David Schane

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Though years of clinical encounters with patients with autism spectrum disorders and those with a schizoid personality the many defining diagnostic features shared between these conditions have been explored and current neurobiological differences have been reviewed; and, critical and different treatment strategies for each have been devised. The paper compares and contrasts the apparent similarities between autism spectrum disorders and the schizoid personality are found in these DSM descriptive categories: restricted range of social-emotional reciprocity; poor non-verbal communicative behavior in social interactions; difficulty developing and maintaining relationships; detachment from social relationships; lack of the desire for or enjoyment of close relationships; and preference for solitary activities. In this paper autism, fundamentally a communicative disorder, is revealed to present clinically as a pervasive aversive response to efforts to engage with or be engaged by others. Autists with the Asperger presentation typically have language but have difficulty understanding humor, irony, sarcasm, metaphoric speech, and even narratives about social relationships. They also tend to seek sameness, possibly to avoid problems of social interpretation. Repetitive behaviors engage many autists as a screen against ambient noise, social activity, and challenging interactions. Also in this paper, the schizoid personality is revealed as a pattern of social avoidance, self-sufficiency and apparent indifference to others as a complex psychological defense against a deep, long-abiding fear of appropriation and perverse manipulation. Neither genetic nor MRI studies have yet located the explanatory data that identifies the cause or the neurobiology of autism. Similarly, studies of the schizoid have yet to group that condition with those found in schizophrenia. Through presentations of clinical examples, the treatment of autists of the Asperger type is revealed to address the autist’s extreme social aversion which also precludes the experience of empathy. Autists will be revealed as forming social attachments but without the capacity to interact with mutual concern. Empathy will be shown be teachable and, as social avoidance relents, understanding of the meaning and signs of empathic needs that autists can recognize and acknowledge. Treatment of schizoids will be shown to revolve around joining empathically with the schizoid’s apprehensions about interpersonal, interactive proximity. Models of both autism and schizoid personality traits have yet to be replicated in animals, thereby eliminating the role of translational research in providing the kind of clues to behavioral patterns that can be related to genetic, epigenetic and neurobiological measures. But as these clinical examples will attest, treatment strategies have significant impact.

Keywords: autism spectrum, schizoid personality traits, neurobiological implications, critical diagnostic distinctions

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Authors: Alldila Hendy, Agi Satria

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Background: A colostomy procedure is an important part in the management of surgical procedures in some diseases involving the gastrointestinal tract. So it is necessary to find the factors that influence the occurrence of complications. Methods: This is a retrospective cross-sectional analytic study in Cipto Mangunkusumo Hospital noting medical records of patients after the colostomy from January 2012 to December 2014 at the Division of Digestive Surgery. Results: In 136 cases of post-colostomy, 66 cases have complications, 14 is early-onset, and 52 is late-onset. 70 is without complications. Most complications are dermatitis, which is 31 (22.8%), cases of infection/abscess/fistula and intestinal obstruction are 13 (9.6%) and 5 patients (4.4%). A rare complication is colostomy retraction by 2 patients (1.5%), colostomy prolapse and necrosis/gangrene, which is only 3 patients (2.2%). A colostomy procedure in emergency surgery is riskier than elective surgery for complications after colostomy (p < 0.007, OR 2.85), Based on the operator who performs a colostomy procedure, the consultant had a lower risk of complications than fellow or resident (p < 0.0001). Based on the age factor, where the age of about 50 years has a risk of complications after colostomy (p < 0.018). Conclusion: The timing of operation (emergency or elective), age, and operator who perform a colostomy procedure have a significant relationship with an increased prevalence of complications after colostomy in RSCM.

Keywords: colostomy, complications, factors, procedure

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Authors: Ashwini Kumar, Vinod Nayak, Shankar M. Bakkannavar

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The identification of humans is important in forensic investigations not only in living but also in dead, especially in cases of mass disorders. The procedure followed in dead known as post-mortem identification is a challenging task for the forensic pathologist. However, it is mandatory in terms of the law to fulfill the social norms. Many times, due to mutilation of body parts, the normal methods of identification using skeletal remains cannot be used in the process of identification. In such cases, the intact components of the skeletal remains or bony parts play an important role in identification. In these situations, digital forensics can come to our rescue. The authors hereby made a study for determination of sex based on nasal index by using (Big Bore 16 Slice) Multidetector Computed Tomography 2D Scans. The results are represented as a poster.

Keywords: sex determination, multidetector computed tomography, nasal index, digital forensic

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Authors: Emel Yildiz, Nurcan Biçer, Fazilet Aksu, Arash Alizadeh Yegani

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Plants provide the wealth of bioactive compounds, which exert a substantial strategy for the treatment of neurological disorders such as Alzheimer's disease. Recently, a lot of studies have explored the medicinal properties of curcumin, including antitumoral, antimicrobial, anti-inflammatory, antioxidant, antiviral, and anti-Alzheimer's disease effects. Metal complexes of curcumin (1,7-bis(4-hydroxy-3-methoxyphenyl)-1,6-heptadiene-3,5-dione) were synthesized with Mn(II) and Fe(III). The structures of synthesized metal complexes have been characterized by using spectroscopic and analytic methods such as elemental analysis, magnetic susceptibility, FT-IR, AAS, TG and argentometric titration. It was determined that the complexes have octahedral geometry. The effects of the metal complexes on the disorder of memory, which is an important symptom of Alzheimer's Disease were studied on lab rats with Plus-Maze Tests at Behavioral Pharmacology Laboratory.

Keywords: curcumin, Mn(II), Fe(III), Alzheimer disease, beta amyloid 25-35

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Authors: Kakali Roy, Sahana P. Raju, Subhra Dhar, Sandipan Dhar

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Introduction: Xeroderma pigmentosa (XP) is a rare inherited (autosomal recessive) disease resulting from impairment in DNA repair that involves recognition and repair of ultraviolet radiation (UVR) induced DNA damage in the nucleotide excision repair pathway. Which results in increased photosensitivity, UVR induced damage to skin and eye, increased susceptibility of skin and ocular cancer, and progressive neurodegeneration in some patients. XP is present worldwide, with higher incidence in areas having frequent consanguinity. Being extremely rare, there is limited literature on XP and associated complications. Here, the clinico-pathological experience (spectrum of clinical presentation, histopathological findings of malignant skin lesions, and progression) of managing 8 cases of XP is presented. Methodology: A retrospective study was conducted in a pediatric tertiary care hospital in eastern India during a ten-year period from 2013 to 2022. A clinical diagnosis was made based on severe sun burn or premature photo-aging and/or onset of cutaneous malignancies at early age (1st decade) in background of consanguinity and autosomal recessive inheritance pattern in family. Results: The mean age of presentation was 1.2 years (range of 7month-3years), while three children presented during their infancy. Male to female ratio was 5:3, and all were born of consanguineous marriage. They presented with dermatological manifestations (100%) followed by ophthalmic (75%) and/or neurological symptoms (25%). Patients had normal skin at birth but soon developed extreme sensitivity to UVR in the form of exaggerated sun tanning, burning, and blistering on minimal sun exposure, followed by abnormal skin pigmentation like freckles and lentiginosis. Subsequently, over time there was progressive xerosis, atrophy, wrinkling, and poikiloderma. Six patients had varied degree of ocular involvement, while three of them had severe manifestation, including madarosis, tylosis, ectropion, Lagopthalmos, Pthysis bulbi, clouding and scarring of the cornea with complete or partial loss of vision, and ophthalmic malignancies. 50% (n=4) cases had skin and ocular pre-malignant (actinic keratosis) and malignant lesions, including melanoma and non melanoma skin cancer (NMSC) like squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) in their early childhood. One patient had simultaneous occurrence of multiple malignancies together (SCC, BCC, and melanoma). Subnormal intelligence was noticed as neurological feature, and none had sensory neural hearing loss, microcephaly, neuroregression, or neurdeficit. All the patients had been being managed by a multidisciplinary team of pediatricians, dermatologists, ophthalmologists, neurologists and psychiatrists. Conclusion: Although till date there is no complete cure for XP and the disease is ultimately fatal. But increased awareness, early diagnosis followed by persistent vigorous protection from UVR, and regular screening for early detection of malignancies along with psychological support can drastically improve patients’ quality of life and life expectancy. Further research is required on formulating optimal management of XP, specifically the role and possibilities of gene therapy in XP.

Keywords: childhood malignancies, dermato-pathological findings, eastern India, Xeroderma pigmentosa

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Authors: Javiera Espinosa, Patricia López, Noelia Santos, Nadia Loro, Esther Moraleda

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In recent years, there has been a notable increase in the number of investigations that establish that Down Syndrome and Autism Spectrum Disorder are diagnoses that can coexist together. However, there are also many studies that consider that both diagnoses present neuropsychological, linguistic and adaptive characteristics with a totally different profile. The objective of this research is to question whether there really can be a profile that encompasses both disorders or if they can be incompatible with each other. To this end, a review of the scientific literature of recent years has been carried out. The results indicate that the two lines collect opposite approaches. On the one hand, there is research that supports the increase in comorbidity between Down Syndrome and Autism Spectrum Disorder, and on the other hand, many investigations show a totally different general development profile between the two. The discussion focuses on discussing both lines of work and on proposing future lines of research in this regard.

Keywords: disability, language, speech, down syndrome

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Authors: A. Medjnoun, R. Bahar

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The disorders caused by the shrinking-swelling phenomenon are prevalent in arid and semi-arid in the presence of swelling clay. This soil has the characteristic of changing state under the effect of water solicitation (wetting and drying). A set of geotechnical parameters is necessary for the characterization of this soil type, such as state parameters, physical and chemical parameters and mechanical parameters. Some of these tests are very long and some are very expensive, hence the use or methods of predictions. The complexity of this phenomenon and the difficulty of its characterization have prompted researchers to use several identification parameters in the prediction of swelling potential. This document is an analytical and statistical study of geotechnical parameters affecting the potential of swelling clays. This work is performing on a database obtained from investigations swelling Algerian soil. The obtained observations have helped us to understand the soil swelling structure and its behavior.

Keywords: analysis, estimated model, parameter identification, swelling of clay

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Authors: Nirav Vaghela, Sanket Parekh

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Objective: Musculoskeletal disorders (MSD) represent one of the most common and important occupational health problems in working populations, being responsible for a substantial impact on quality of life and incurring a major economic burden in compensation cost and lost wages. School teachers represent an occupational group among which there appears to be a high prevalence of MSD. Design: Three hundred and fourteen teachers were enrolled in this study. Teachers were interview with the Modified Nordic Questionnaire. Result: In current study total 314 participants have been recruited in that minimum age of participants is 22 and maximum age is 59 with mean 40.5± 9.88. Total prevalence of the MSD is 71.95% among the teachers. In that Female were more affected with 72% than the males with 28%. Conclusion: The teachers here in reported a high prevalence of musculoskeletal pain in the shoulder, knee and back.

Keywords: repetitive stress injury, pain, occupational hazards, disability, abneetism, physical health, quality of life

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Authors: Bezzi Nacer

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The study focused on the qualitative and quantitative study of Trace elements contained in the natural phosphate ore of Djebel Onk layer and their behaviour to the various mineralurgic modes of treatment. The main objective is to locate the importance of these contents according to granulometry and their association with the existing mineralogical species and to define how the most appropriate treatment. The raw ore is in first submitted to a prior mechanical treatment consisting of homogenization operations, of grinding and of sifting, in order to separate it into three particle-size classes: fine <100 µm (F); medium 100-500 µm (I) and coarse > 500 µm (G), and then treated by calcination, washing and floatation. The identification of the different mineralogical phases, the chemical composition and the thermal behaviour of these samples were realized by various techniques: MEB, DRX, ATG-ATD, etc. The study of Trace elements, carried out by ICP-MS, identified thirty items, consisting mainly of rare earths and of transition metals. A close relation between trace elements and various minerals phases (apatite, dolomite and silicates), through operations of substitution. These elements are distributed between several mineralogical phases, in particular apatite (strontium, uranium, chrome, barium, cadmium) and silicates (strontium, sodium, nickel, zinc and copper).

Keywords: valorization of natural phosphate ore, heavy metals, qualitative and quantitative analysis, various mineralurgic

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Authors: S. Alireza Mirghasemi, Narges Rahimi Gabaran

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Although sacral fractures in children are rare due to the fact that the occurrence of pelvic fracture is not common in childhood. Sacral fractures present a high risk of neurological damage. This kind of fracture is often missed because the routine pelvic X-rays imaging scarcely show this fracture. Also, the treatment is controversial, and it ranges from fine reduction to conservative treatments without any try to reduce the dislocation. In this article, a case of fracture dislocation of S1 and S2 along with a suggested diagnostic test and treatment based on similar cases are presented. The case investigates a 14-year-old boy who entered the hospital one week after a car accident that knocked him to the ground in crawling position and a rack fell down on his body. Pain and tenderness in the sacral region and a fracture in the left leg were notable--we detected incomplete bilateral palsy of L5, S1 and S2 roots. In radiographs of the spine fracture dislocation of S1, the sacral fracture was seen. The treatment included a skeletal traction with a halo over the patient’s head and two femoral pins. After one week, another surgery was performed in order to stabilize and reduce the fracture, and we employed a posterior approach with CD and a pedicular screw. After two years of follow-up, the fracture is completely cured without any loss of reduction.

Keywords: adolescent, fracture in adolescent, fracture dislocation, sacrum

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

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

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

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Authors: Vincent Kheswa

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X-rays are ionizing electromagnetic radiation that is used in various industries such as computed tomography scans, dental X-rays, and screening freight trains. However, they pose health risks to humans if they are not shielded properly. In recent years, many researchers around the globe have been searching for nontoxic best possible glass materials for shielding X-rays. In this work, the x-ray shielding properties of 45Na₂O + 10 Bi₂O₃ + (5 - x)TiO₂+ (x) Nb₂O₅ + 40 P₂O₅, were x = 0, 1, 3, 5 mol%, glass materials were studied. The results revealed that the glass sample with the highest TiO2 content has the highest mass and linear attenuation coefficients and lowest half-value thickness, tenth-value thickness and mean-free path in the 20 to 80 keV energy region. The sample with 3 mol% of Nb₂O₅ has the highest mass and linear attenuation coefficients and the lowest half-value thickness, tenth-value thickness, and mean-free path at 15 keV and photon energies between 80 to 300 keV. It was, therefore, concluded that 45Na₂O + 10 Bi₂O₃ + 5 TiO₂ + 40 P₂O₅ glass is best for shielding x-rays of energies between 20 and 80 keV, while 45Na₂O + 10 Bi₂O₃ + 2 TiO₂ + 3 Nb₂O₅ + 40 P₂O₅ is best for shielding 15 keV x-rays and x-rays of energies between 80 keV and 300 keV.

Keywords: bismuth-titanium-phosphate glass, x-ray shielding, LAC, MAC, radiation shielding

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Authors: Edward Hage, Pieter Lietaert, Gabriel Abedrabbo

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Musculoskeletal disorders are an important category of work-related diseases. They are often caused by working in non-ergonomic postures and are preventable with proper workplace design, possibly including human-machine collaboration. This paper presents a methodology and a supporting software prototype to design a simple assembly cell with minimal ergonomic risk. The methodology helps to determine the optimal position and orientation of workpieces and workplace resources for specific operator assembly actions. The methodology is tested on an industrial use case: a collaborative robot (cobot) assisted assembly of a clamping device. It is shown that the automated methodology results in a workplace design with significantly reduced ergonomic risk to the operator compared to a manual design of the cell.

Keywords: ergonomics optimization, design for ergonomics, workplace design, pose generation

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Authors: Muhammed Muvaffak Alhasan, Ali Alriyami, Ali Almanei

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Despite the extreme importance of etymological studies in documenting the linguistic heritage, and showing its roots and connections in the classical language; However, etymological dictionaries are still rare in the Arab library in general. Etymology is the science of etymology that investigates how vocabulary is reproduced and reproduced, by exploring the origin of words and the phonetic and semantic changes that occurred in them over time, trying to reconfigure an identity card for the word showing its origin and the path it took through time until it reached its current state. This research seeks to make an etymological study on the terminology used in the traditional dagger making in the Sultanate of Oman through the following steps: 1. Collecting the terms relating to traditional dagger making and recording them in order to document and preserve them. 2. Arranging them alphabetically in order to facilitate searching and dealing with them. 3. Setting up a historical identification card for each word by applying an etymological study that shows its source from which they descended its links with standard and the phonological and semantic changes it underwent until it reached its current form.

Keywords: cultural heritage, etymology, Omani dagger, Oman

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Authors: Muhittin Fatih Demirhan, Sibel Alapala Demirhan

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Agriculture, is also regarded as the primary activity area in all economies. When international comparisons are made Turkey has comparative advantages in agricultural potential. However, it is diffi cult to say that Turkey's agricultural productivity and use of technology is well developed in terms of sufficieny. Turkey, in terms of agricultural production, is one of the rare self-sufficient countries, but for supplying excessive demand of its domesticproduction to foreign markets to obtain the necessary income it is rather insufficient. On the basis of wrong policies implemented during the crisis and found that bottlenecks in agriculture and animal husbandry or agriculture policies of the IMF and World Bank are imposed on countries like Turkey. The IMF and the World Bank, the reduction of support in the agricultural and livestock Turkey, is known to put pressure for the abolition. Under these circumstances, our farmers, livestock producers and breeders of, not a chance to compete in the same market with EU producers. Animal products that capture the productivity levels of developed countries, seems to be our chance to compete with the quality and hygiene criteria. Thus, the discussion of the issue must be raised as for the sector's contribution to the economy in terms of further increasing production of the existing potential in mobilization.

Keywords: agricultural development, animal production, competition, economic crisis, food supply

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Authors: Marcel Chevalier, Léo Dupont, Sylvain Marié, Frédérique Roffet, Elena Stolyarova, William Templier, Costin Vasile

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Industrial end-users are currently facing an increasing need to reduce the risk of unexpected failures and optimize their maintenance. This calls for both short-term analysis and long-term ageing anticipation. At Schneider Electric, we tackle those two issues using both machine learning and first principles models. Machine learning models are incrementally trained from normal data to predict expected values and detect statistically significant short-term deviations. Ageing models are constructed by breaking down physical systems into sub-assemblies, then determining relevant degradation modes and associating each one to the right kinetic law. Validating such anomaly detection and maintenance models is challenging, both because actual incident and ageing data are rare and distorted by human interventions, and incremental learning depends on human feedback. To overcome these difficulties, we propose to simulate physics, systems, and humans -including asset maintenance operations- in order to validate the overall approaches in accelerated time and possibly choose between algorithmic alternatives.

Keywords: degradation models, ageing, anomaly detection, soft sensor, incremental learning

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Authors: Anupuma Raina, Ajay P. Balayan, Prateek Pandya, Pankaj Shrivastava, Uma Kanga, Tulika Seth

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DNA fingerprinting analysis aids in personal identification for forensic purposes and has always been a driving motivation for law enforcement agencies in almost all countries since its inception. The introduction of DNA markers (Y-STR) has allowed for greater precision and higher discriminatory power in forensic testing. A criminal/ person committing crime after bone marrow transplantation is a rare situation but not an impossible one. Keeping such a situation in mind, a study was carried out to find out the best biological sample to be used for personal identification, especially in forensic situation. We choose a female patient (recipient) and a male donor. The pre transplant sample (blood) and post transplant samples (blood, buccal swab, hair roots) were collected from the recipient (patient). The same were compared with the blood sample of the donor using DNA FP technique. Post transplant samples were collected at different interval of time (15, 30, 60, and 90 days). The study was carried out using Y-STR kit at 23 loci. The results determined discusses the phenomenon of chimerism and its impact on Y-STR. Hair sample was found the most suitable sample which had no donor DNA profiling up to 90 days.

Keywords: bone marrow transplantation, chimerism, DNA profiling, Y-STR

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Authors: Jurijs Salijevs, Katrina Bolocko

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The integration of artificial intelligence and neural networks has significantly changed full-body imaging and high-resolution 3D mapping systems, and this paper reviews research in these areas. With an emphasis on their use in the early identification of melanoma and other disorders, the goal is to give a wide perspective on the current status and potential future of these medical imaging technologies. Authors also examine methodologies such as machine learning and deep learning, seeking to identify efficient procedures that enhance diagnostic capabilities through the analysis of 3D body scans. This work aims to encourage further research and technological development to harness the full potential of AI in disease diagnosis.

Keywords: artificial intelligence, neural networks, 3D scan, body scan, 3D mapping system, healthcare

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Authors: Amal A. Qedrah, Sofia A. Malik, Madiha Akbar

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The aim of this article is to share a rare clinical case of pregnancy and surgical delivery in a patient who has undergone augmentation cystoplasty with mitrofanoff channel in the past. Methods: This case report is about a woman who conceived naturally at the age of 27, previously underwent augmentation cystoplasty at the age of 10 years with mitrofanoff procedure using self-clean intermittent catheterization. Furthermore, this pregnancy was complicated by the presence of preeclampsia diagnosed at term and PROM. Following the failure of induction for intrapartum preeclampsia, the patient delivered a healthy baby via low transverse cesarean section at 38 weeks done at Latifa Hospital, Dubai. Conclusion: The procedure is done at a pediatric or young age, after which most patients reach reproductive age. There is no contraindication to pregnancy vaginally or surgically; however, this case was complicated by preeclampsia, due to which this patient was taken for a cesarean section. It is advisable to consult a urologist frequently along with taking regular bacteriological urine samples and blood samples with renal ultrasonography for the evaluation of the kidney. Antibacterial treatment or prophylaxis should be used during pregnancy if necessary and intermittent self-catherization is mostly performed routinely. It is also important to have a urologist on standby during the surgery in order to avoid and/or fix any complications that might come forth.

Keywords: augmentation cystoplasty, cesarean section, delivery, mitrofanoff channel

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Authors: Azizah Nurdin, Trika Irianta, Mardiah Tahir, Maisuri T. Chalid

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Background: Studies of anal incontinence in the general population are rare however its financial healthcare cost is significant. Women attended Hasanuddin University Teaching Hospital and its networking in Makassar, Indonesia was surveyed between February to April 2015 about their obstetrical and gynecological history. Aims: To establish obstetrical risk factor of anal incontinence among women in Makassar. Methods: In a cross sectional face to face interview study, 135 women aged 30 years or more were selected randomly. Participants were asked to complete an anal incontinence questionnaire. Results: From a total sample of 135 respondents, 42,2 % reported has flatulence incontinence. Parity, history of anal sphincter laceration, history of having large baby, history of assisted vaginal delivery were shown have no significant association with anal incontinence, while history of episiotomy was shown have a significant association with anal incontinence (p value < 0.05). The risk of flatulence incontinence was higher among women with history of episiotomy (OR : 2,85, 95 % CI = 1,58- 5,13) Conclusions: This study has confirmed that fecal incontinence is a fairly common symptom. Flatulence incontinence is the most frequent even. An obstetrical factor like episiotomy is one of risk factor that could be avoided in order to prevent anal incontinence.

Keywords: anal incontinence, flatulence incontinence, obstetrical risk factor, women

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Authors: Minsun Kim, Ki-Sun Choi, Hyun-Jee Lee, Young-Chan You

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There is no reinforcement example for the renovation of the vertical and horizontal extension to existing building structures which is a shear wall type in apartment units in Korea. Among these existing structures, the structures which are shear wall type are rare overseas, while Korea has many shear wall apartment units. Recently, in Korea, a few researchers are trying to confirm the possibility of the vertical extension in existing building with shear walls. This study evaluates the possibility of the renovation by applying performance-based seismic design to existing buildings with shear walls in the analysis phase of the structure. In addition, force-based seismic design, used by general structural engineers in Korea, is carried out to compare the amount of reinforcement of walls, which is a main component of wall structure. As a result, we suggest that performance-based design obtains more economical advantages than force-based seismic design.

Keywords: design for extension, performance-based design, remodeling, shear wall frame, structural analysis

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Authors: Indra Gonzalez Ojeda, Tatiana Quinones, Manuel Rosario, Igor Lednev, Juan Lopez Garriga

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Amyloid fibrils are stable aggregates of misfolded protein associated with many neurodegenerative disorders. It has been shown that hydrogen sulfide (H2S), inhibits the fibrillation of lysozyme through the formation of trisulfide (S-S-S) bonds. However, the overall mechanism remains elusive. Here, the concentration dependence of H2S effect was investigated using Atomic force microscopy (AFM), non-resonance Raman spectroscopy, Deep-UV Raman spectroscopy and circular dichroism (CD). It was found that small spherical aggregates with trisulfide bonds and a unique secondary structure were formed instead of amyloid fibrils when adding concentrations of 25 mM and 50 mM of H2S. This could indicate that H2S might serve as a protecting agent for the protein. However, further characterization of these aggregates and their trisulfide bonds is needed to fully unravel the function H2S has on protein fibrillation.

Keywords: amyloid fibrils, hydrogen sulfide, protein folding, raman spectroscopy

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Authors: Ghoul Rachid Brahim

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Introduction: Tuberculous spondylodiscitis is an infection of the spine by Mycobacterium tuberculosis. Tuberculous spondylodiscitis still remains a topical disease in developing countries and continues to pose a public health problem in endemic countries. Materials and methods: Clinical case: This is a 12-year-old child followed in pediatrics for weight loss and progressively worsening low back pain. The neurological examination found an irritative pyramidal syndrome in both lower limbs with a severe lumbar spinal syndrome. The radiological assessment: (Rx of the spine supplemented by CT and MRI) shows L1L2 spondylodiscitis. Treatment: The child is put on anti-tuberculosis treatment, and the spine is restrained with a corset. Control MRI shows a worsening of the dorsal kyphosis with a backward movement of the posterior wall and spinal cord compression. The child is operated on via the posterior approach (the operative procedure consists of an L1 laminectomy and D11 L3 osteosynthesis). Results: Spinal cord décompression and stabilization of the spine. Conclusion: Tuberculous spondylodiscitis in children remains a rare, aggressive, and progressive condition. The prognosis depends on the diagnosis's precocity and the therapeutic management quality.

Keywords: tuberculous spondylodiscitis, mycobacterium tuberculosis, laminectomy, MRI

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Authors: Sally Shepherd, Craig Murphy

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Introduction: The uterus or cervix are unusual locations as metastatic sites for cancers. It is further unusual for it to be a site of metastasis, whilst the primary malignancy remains occult. Case Report: A 63-year-old female with three months of altered bowel habits underwent a CT scan of the abdomen and pelvis, revealing a bulky uterus and left ovary, nonspecific colonic thickening, and diffuse peritoneal changes. She underwent colposcopy, which revealed a large endocervical polyp that was excised, revealing strongly hormone-positive metastatic invasive lobular breast cancer. She subsequently underwent a PET scan, which showed moderately diffuse activity in the cervix and left adnexa. Breast examination was unremarkable, and screening mammography, ultrasound, and MRI of the breast did not identify any lesions. Her blood tests revealed a Ca 15-3 of 934, CA-125 of 220, and CEA of 27. She was commenced on letrozole and ribociclib with an improvement in her symptoms. Conclusion: It is rare for occult breast cancer to be established and diagnosed by pelvic imaging and biopsy. Suspicion of uterine or cervical metastasis should be heightened in patients with an active or past history of breast cancer.

Keywords: occult breast cancer, cervical metastasis, invasive lobular carcinoma, metastasis

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Authors: A. T. Nakysh, A. S. Idrisov, S. A. Baidurin

Abstract:

This work presents the results of a study the incidence of metabolic syndrome (MetS) in women with impaired reproductive function (IRF) according to the data of Astana, Kazakhstan. The anthropometric, biochemical and instrumental studies were conducted among 515 women, of which 53 patients with MetS according to IDF criteria, 2006, were selected. The frequency of occurrence of the IRF, due to MetS – 10.3% of cases according to the data of Astana. In women of childbearing age with IRF and the MetS, blood pressure (BP), indicators of carbohydrate and lipid metabolism were significantly higher and the level of high density lipoprotein (HDL) significantly lower compared to the same in women with the IRF without MetS. The hyperandrogenism, the hyperestrogenemia, the hyperprolactinemia and the hypoprogesteronemia were found in the patients with MetS and IRF, indicating the impact of MetS on the development of the polycystic ovary syndrome in 28% of cases and hyperplastic processes of the myometrium in 20% of cases.

Keywords: dyslipidemia, insulin resistance, metabolic syndrome, reproductive disorders, obesity

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Authors: M. Mydlárová Blaščáková, J. Bernasovská, J. Poráčová, I. Boroňová

Abstract:

Obesity is frequent attendant phenomenon of patients with endocrinological disease. Between BMI and endocrinological diseases is close correlation. In thesis we focused on the allocation of hormone concentration – PTH and TSH, CHOL a mineral element Ca in a blood serum. The examined group was formed by 100 respondents (women) aged 36 – 83 years, who were divided into two groups – control group (CG), group with diagnosed endocrine disease (DED). The concentration of PTH and TSH, Ca and CHOL was measured through the medium of analyzers Cobas e411 (Japan); Cobas Integra 400 (Switzerland). At individuals was measured body weight as well as stature and thereupon from those data we enumerated BMI. On the basis of Student T-test in biochemical parameter of PTH and Ca we found out significantly meaningful difference (p<0,05) between CG and DED. In CG we made a founding the association between BMI and PTH by means of correlation analysis.

Keywords: biochemical markers, hormones, obesity, women

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Authors: Agata Matuszewska, Małgorzata Syczewska

Abstract:

The movement of the upper limbs contributes significantly to balance control while walking in humans. However, the impact of different arm swing modes on gait stability is yet to be determined. This work intends to establish numerical parameters for assessing the arm swing. Nineteen people, comprising fifteen young, healthy individuals, two middle-aged individuals, and two individuals with dysfunctions, were analyzed using the movement analysis system. Proposed parameters such as ASᵢₐ (reflecting the arm swing amplitude) and Pearson’s correlation coefficient between the right and left upper limbs can be used to classify the type of movement task each participant performs. The results indicate that the ASᵢₐ parameter could potentially detect any abnormalities in upper limb functions, which may be due to musculoskeletal disorders or other malfunctions.

Keywords: arm swing, human balance, interlimb coordination, motion analysis system

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Authors: Claire Sciberras

Abstract:

Introduction: Autism Spectrum Disorder (ASD) has become recognized as being the most common childhood neurological condition. Indeed, numerous studies demonstrate an increase in the prevalence rate of children diagnosed with ASD. Concurrent with these findings, the European Agency for Special Needs and Inclusive Education reported a similar escalating tendency in prevalence also in Malta. Such an increase within the educational context in Malta has led the European Agency to call for increased support within educational settings in Malta. However, although research has addressed the positive impact of mainstream education on learners with ASD, empirical studies vis-à-vis the internal and external strengths and weaknesses present within the support provided in mainstream settings in Malta is distinctly limited. In light of the aforementioned argument, Malta would benefit from research which focuses on analysing the strengths, weaknesses, opportunities, and threats (SWOTs) which are present within the support provision of learners with ASD in mainstream primary schools. Such SWOT analysis is crucial as lack of appropriate opportunities might jeopardize the educational and social experiences of persons with ASD throughout their schooling. Methodology: A mixed methodological approach would be well suited to examine the provision of support of learners with ASD as the combination of qualitative and quantitative approaches allows researchers to collect a comprehensive range of data and validate their results. Hence, it is intended that questionnaires will be distributed to all the stakeholders involved so as to acquire a broader perspective to be collected from a wider group who provide support to students with ASD across schools in Malta. Moreover, the use of a qualitative approach in the form of interviews with a sample group will be implemented. Such an approach will be considered as it would potentially allow the researcher to gather an in-depth perspective vis-à-vis to the nature of the services which are currently provided to learners with ASD. The intentions of the study: Through the analysis of the data collected vis-à-vis to the SWOTs within the provision of support of learners with ASD it is intended that; i) a description in regards to the educational provision for learners with ASD within mainstream primary schools in Malta in light of the experiences and perceptions of the stakeholders involved will be acquired; ii) an analysis of the SWOTs which exist within the services for learners with ASD in primary state schools in Malta is carried out and iii) based on the SWOT analysis, recommendations that can lead to improvements in practice in the field of ASD in Malta and beyond will be provided. Conclusion: Due to the heterogeneity of individuals with ASD which spans across several deficits related to the social communication and interaction domain and also across areas linked to restricted, repetitive behavioural patterns, educational settings need to alter their standards according to the needs of their students. Thus, the standards established by schools throughout prior phases do not remain applicable forever, and therefore these need to be reviewed periodically in accordance with the diversities and the necessities of their learners.

Keywords: autism spectrum disorders, mainstream educational settings, provision of support, SWOT analysis

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