Search results for: musculoskeletal disorders (MSDs)

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

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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

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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: Wu Liching

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Aim This case aims to discuss the pathogenesis, clinical manifestations and medical treatment of strokes caused by mitochondrial gene mutations. Methods Diagnosis of ischemic stroke caused by mitochondrial gene defect by means of "next-generation sequencing mitochondrial DNA gene variation detection", imaging examination, neurological examination, and medical history; this study took samples from the neurology ward of a medical center in northern Taiwan cases diagnosed with acute cerebral infarction as the research objects. Result This case is a 49-year-old married woman with a rare disease, mitochondrial gene mutation inducing ischemic stroke. She has severe hearing impairment and needs to use hearing aids, and has a history of diabetes. During the patient’s hospitalization, the blood test showed that serum Lactate: 7.72 mmol/L, Lactate (CSF) 5.9 mmol/L. Through the collection of relevant medical history, neurological evaluation showed changes in consciousness and cognition, slow response in language expression, and brain magnetic resonance imaging examination showed subacute bilateral temporal lobe infarction, which was an atypical type of stroke. The lineage DNA gene has m.3243A>G known pathogenic mutation point, and its heteroplasmic level is 24.6%. This pathogenic point is located in MITOMAP and recorded as Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) , Leigh Syndrome and other disease-related pathogenic loci, this mutation is located in ClinVar and recorded as Pathogenic (dbSNP: rs199474657), so it is diagnosed as a case of stroke caused by a rare disease mitochondrial gene mutation. After medical treatment, there was no more seizure during hospitalization. After interventional rehabilitation, the patient's limb weakness, poor language function, and cognitive impairment have all improved significantly. Conclusion Mitochondrial disorders can also be associated with abnormalities in psychological, neurological, cerebral cortical function, and autonomic functions, as well as problems with internal medical diseases. Therefore, the differential diagnoses cover a wide range and are not easy to be diagnosed. After neurological evaluation, medical history collection, imaging and rare disease serological examination, atypical ischemic stroke caused by rare mitochondrial gene mutation was diagnosed. We hope that through this case, the diagnosis of rare disease mitochondrial gene variation leading to cerebral infarction will be more familiar to clinical medical staff, and this case report may help to improve the clinical diagnosis and treatment for patients with similar clinical symptoms in the future.

Keywords: acute stroke, MELAS, lactic acidosis, mitochondrial disorders

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Authors: Claire Sciberras

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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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Authors: Fatten F. Elkomy

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The Syrian refugees are the largest refugee population since World War II. Mostly, children, these individuals were exposed to intense traumatic events in their homeland, throughout their journey, and during settlement in foreign lands. Art is a universal language to express feelings and tough human experiences. It is also a medium for healing and promoting creativity and resilience. Literature review was conducted to examine the use of art to facilitate psychiatric interviews, diagnosis, and therapy with traumatized children. Results show a severe impact of childhood trauma on the increased risk for abuse, neglect, and psychiatric disorders. Clinicians must recognize, evaluated and provide help for these children. In conclusion, drawings are used to tell a story, reflect deep emotions, and create a meaningful self-recognition and determination. Participants will understand art therapy using the expressive therapies continuum framework to evaluate drawings and to promote healing for refugee children.

Keywords: art therapy, children drawings, Syrian refugees, trauma in childhood

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Authors: Karima Ould Yerou, B. Meddah, A. Tir Touil

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The intestinal flora also called the intestinal microbiota, consists of different bacteria and other microorganisms which occur naturally in the gastrointestinal tract organs components. These intestinal bacteria are present in their millions and help the functioning of the body in particular allowing aid to degradation of certain molecules into absorbable substrates. They also protect against invasion of the gut by other pathogenic bacteria, that is to say which may be responsible for disease. Factors like stress, antibiotics and diet can affect the balance of intestinal flora and in case of imbalance, digestive disorders type bloating, diarrhea or vomiting may occur. Rattus norvegicus of bad weight of 100 kg, an Algerian firm West are scarified and isolation of their ileum and colon respectively two Bactrian strains Escherichia coli and Lactobacillus are then purified and identified.

Keywords: intestinal flora, Rattus norvegicus, Escherichia coli, lactobacillus, West Algerian farm

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Authors: Antonio J. Melendez-Martinez

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Beyond their role as natural colorants, some carotenoids are provitamins A and may be involved in health-promoting biological actions and contribute to reducing the risk of developing non-communicable diseases, including several types of cancer, cardiovascular disease, eye conditions, skin disorders or metabolic disorders. Given the versatility of carotenoids, the COST-funded European network to advance carotenoid research and applications in agro-food and health (EUROCAROTEN) is aimed at promoting health through the diet and increasing well-being by means. Stakeholders from 38 countries participate in this network, and one of its main objectives is to promote research on little-studied carotenoids. In this contribution, recent advances of our research group and collaborators in the study of two such understudied carotenoids, namely phytoene and phytofluene, the colorless carotenoids, are outlined. The study of these carotenoids is important as they have been largely neglected despite they are present in our diets, fluids, and tissues, and evidence is accumulating that they may be involved in health-promoting actions. More specifically, studies on their levels in diverse tomato and orange varieties were carried out as well as on their potential bioavailability from different dietary sources. Furthermore, the potential effect of these carotenoids on an animal model subjected to oxidative stress was evaluated. The tomatoes were grown in research greenhouses, and some of them were subjected to regulated deficit irrigation, a sustainable agronomic practice. The citrus samples were obtained from an experimental field. The levels of carotenoids were assessed using HPLC according to routine methodologies followed in our lab. Regarding the potential bioavailability (bioaccessibility) studies, different products containing colorless carotenoids, like fruits, juices, were subjected to simulated in vitro digestions, and their incorporation into mixed micelles was assessed. The effect of the carotenoids on oxidative stress was evaluated on the Caenorhabditis elegans model. For that purpose, the worms were subjected to oxidative stress by means of a hydrogen peroxide challenge. In relation to the presence of colorless carotenoids in tomatoes and orange varieties, it was observed that they are widespread in such products and that there are mutants with very high quantities of them, for instance, the Cara Cara or Pinalate mutant oranges. The studies on their bioaccessibility revealed that, in general, phytoene and phytofluene are more bioaccessible than other common dietary carotenoids, probably due to their distinctive chemical structure. About the in vivo antioxidant capacity of phytoene and phytofluene, it was observed that they both exerted antioxidant effects at certain doses. In conclusion, evidence on the importance of phytoene and phytofluene as dietary easily bioavailable and antioxidant carotenoids has been obtained in recent studies from our group, which can be important shortly to innovate in health-promotion through the development of functional foods and related products.

Keywords: carotenoids, health, functional foods, nutrition, phytoene, phytofluene

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Authors: Siham Soulaimi

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Europe has become a difficult destination due to strict migration policies and border controls, making Morocco an immigration country. Morocco is currently at the center of the international migration debate because it not only hosts regular migrants but also must deal with the problem of irregular migrants entering its territory. Sub-Saharan irregular migration is full of challenges that might cause a delay for the migrants, announcing a death sentence for many others. The journey's hurdles are likely to cause a crisis in expectations, resulting in serious consequences on the migrants' mental health. Our research study emphasizes that sub-Saharan migrants begin irregular journeys with high hopes, only to be disappointed by how unexpectedly cruel it turns out to be. We also pointed to specific physical and, more crucially, mental health problems that they end up with after survival, resulting in somatic disorders.

Keywords: irregular migration, Sub-Saharan migrants, challenges, experiences crisis, mental health, somatoform disorder

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Authors: ShuYing Chung, Minchuan Huang, Iping Chen

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Taking the medical staff in an emergency ward of a medical center in Central Taiwan as the research object, the questionnaire data were collected by anonymous and voluntary reporting methods with structured questionnaire to explore the actual situation, willingness and attitude of organ donation. Only 80 valid questionnaires were collected. Among the 8 questions, the average correct rate was 5.9 + 1.2, and the correct rate was 73.13%. The willingness of organ donation that 7.5% of the people are not willing; 92.5% of the people are willing, of which 62.5% have considered but have not yet decided; 21.3% are willing but have not signed the consent of organ donation; They have signed the consent of organ donation 8.7%. The average total score (standard deviation) of attitude towards organ donation was 36.2. There is no significant difference between the demographic variables and the awareness and willingness of organ donation, but there is a significant correlation between the marital status and the attitude of organ donation.

Keywords: clinical psychology, organ donation, doctors affecting psychological disorders, commitment

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Authors: Aniqa Jabeen

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The aim of this study was to evaluate the effectiveness of Tc-99m MIBI (Technetium 99-methoxy-iso-butyl-isonitrile) scintigraphy to differentiate malignancies from benign lesions, which were detected on planar bone scans. Materials and Methods: 59 patients with bone lesions were enrolled in the study. The scintigraphic findings were compared with the clinical, radiological and the histological findings. Each patient initially underwent a three-phase bone scan with Tc-99m MDP (Methylene Diphosphonate) and if evidence of lesion found, the patient then underwent a dynamic and static MIBI scintigraphy after three to four days. The MDP and MIBI scans were evaluated visually and quantitatively. For quantitative analysis count ratios of lesions and contralateral normal side (L/C) were taken by region of interests drawn on scans. The Student T test was applied to assess the significant difference between benign and malignant lesions p-value < 0.05 was considered significant. Result: The MDP scans showed the increase tracer uptake, but there was no significant difference between benign and malignant uptake of the radiotracer. However significant difference (p-value 0.015), in uptake was seen in malignant (L/C = 3.51 ± 1.02) and benign lesion (L/C = 2.50±0.42) on MIBI scan. Three of thirty benign lesions did not show significant MIBI uptake. Seven malignant appeared as false negatives. Specificity of the scan was 86.66%, and its Negative Predictive Value (NPV) was 81.25% whereas the sensitivity of scan was 79.31%. In excluding the axial metastasis from the lesions, the sensitivity of MIBI scan increased to 91.66% and the NPV also increased to 92.85%. Conclusion: MIBI scintigraphy provides its usefulness by distinguishing malignant from benign lesions. MIBI also correctly identifies metastatic lesions. The negative predictive value of the scan points towards its ability to accurately diagnose the normal (benign) cases. However, biopsy remains the gold standard and a definitive diagnostic modality in musculoskeletal tumors. MIBI scan provides useful information in preoperative assessment and in distinguishing between malignant and benign lesions.

Keywords: benign, malignancies, MDP bone scan, MIBI scintigraphy

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Authors: Fathia Ehmouda Zaid, Reim Abudelnbi

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Cardiovascular disease is a major cause of morbidity and mortality in patients with systemic lupus erythematosus (SLE). Patients and method: Cross-section study (68) patients diagnosed as systemic lupus erythematosus (SLE), who visited the outpatient clinic of rheumatology, these patients were interviewed with a structured questionnaire about their past and current clinically for presence of Cardiovascular disease in systemic lupus and use SLEDAI, specific tests [ECG –ECHO –CXRAY] the data are analyzed statistically by Pearson's correlation coefficient was calculated and statistical significance was defined as P< 0.05,during period (2013-2014). Objective: Estimation Cardiovascular disease manifestation of systemic lupus erythematosus, correlation with disease activity, morbidity, and mortality. Result: (68) Patients diagnosed as systemic lupus erythematosus' age range from (18-48 years), M=(13±29Y), Sex were female 66/68 (97.1%), male 2/68 (2.9%),duration of disease range[1-15year], M =[7±8y], we found Cardiovascular disease manifestation of systemic lupus erythematosus 32/68 (47.1%), correlation with disease activity use SLEDAI,(r= 476** p=0.000),Morbidity,(r= .554**; p=0.000) and mortality (r=.181; p=.139), Cardiovascular disease manifestations of systemic lupus erythematosus are pericarditis 8/68 (11.8%), pericardial effusion 6/68 (8.8%), myocarditis 4/68 (5.9 %), valvular lesions (endocarditis) 1/68 (1.5%), pulmonary hypertension (PAH) 12/68 (17.6%), coronary artery disease 1/68 (1.5%), none of patients have conduction abnormalities involvement. Correlation with disease activity use SLEDAI, pericarditis (r= .210, p=.086), pericardial effusion (r= 0.079, p=.520), myocarditis (r= 272*, p=.027), valvular lesions (endocarditis) (r= .112, p= .362), pulmonary hypertension (PAH) (r= .257*, p=.035) and coronary artery disease (r=.075, p=.544) correlation between cardiovascular disease manifestations of systemic lupus erythematosus and specific organ involvement we found Mucocutaneous (r=.091 p= .459), musculoskeletal (MSK) (r=.110 p=.373), Renal disease (r=.278*, p=.022), neurologic disease (r=.085, p=.489) and Hematologic disease (r=-.264*, p=.030). Conclusion: Cardiovascular manifestation is more frequent symptoms with systemic lupus erythematosus (SLE) is 47 % correlation with disease activity and morbidity but not with mortality. Recommendations: Focus research to evaluation and an adequate assessment of cardiovascular complications on the morbidity and mortality of the patients with SLE are still required.

Keywords: cardiovascular disease, systemic lupus erythematosus, disease activity, mortality

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Authors: Jessica A. Soto-Bear, Virginia González-Vélez, Norma Castañeda-Villa, Amparo Gil

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Glutamate release of the cochlear inner hair cell (IHC) ribbon synapse is a fundamental step in transferring sound information in the auditory pathway. Otoferlin is the calcium sensor in the IHC and its activity has been related to many auditory disorders. In order to simulate secretion dynamics occurring in the IHC in a few milliseconds timescale and with high spatial resolution, we proposed an active-zone model solved with Monte Carlo algorithms. We included models for calcium buffered diffusion, calcium-binding schemes for vesicle fusion, and L-type voltage-gated calcium channels. Our results indicate that calcium influx and calcium binding is managing IHC secretion as a function of voltage depolarization, which in turn mean that IHC response depends on sound intensity.

Keywords: inner hair cells, Monte Carlo algorithm, Otoferlin, secretion

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Authors: Christine L. Cole

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Adolescents with Autism Spectrum Disorders (ASD) often experience social-communication difficulties that negatively impact their social interactions with typical peers. However, unlike other age and disability groups, there is little intervention research to inform best practice for these students. One evidence-based strategy for younger students with ASD is peer-mediated intervention (PMI). PMI may be particularly promising for use with adolescents, as peers are readily available and natural experts for encouraging authentic high school conversations. This paper provides a review of previous research that evaluated the use of PMI to improve the social-communication skills of students with ASD. Specific intervention features associated with positive student outcomes are identified and recommendations for future research are provided. Adolescents with ASD are targeted due to the critical importance of social conversation at the high school level.

Keywords: autism, peer-mediation, social communication, adolescents

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Authors: Rajender Singh, Nidhi Sharma, Aastha Chauhan, Meenakshi Barsaul, Jyoti Deswal, Chetan Chhikara

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Introduction: Pre-eclampsia and eclampsia are hypertensive disorders of pregnancy with multisystem involvement and are common causes of morbidity and mortality in obstetrics. It is believed that changes in retinal arterioles may indicate similar changes in the placenta. Therefore, this study was undertaken to evaluate the ocular manifestations in cases of pre-eclampsia and eclampsia and to deduce any association between the retinal changes and blood pressure, the severity of disease, gravidity, proteinuria, and other lab parameters so that a better approach could be devised to ensure maternal and fetal well-being. Materials and Methods: This was a hospital-based cross-sectional study conducted over a period of one year, from April 2021 to May 2022. 350 admitted patients with diagnosed pre-eclampsia, eclampsia, and pre-eclampsia superimposed on chronic hypertension were included in the study. A pre-structured proforma was used. After taking consent and ocular history, a bedside examination to record visual acuity, pupillary size, corneal curvature, field of vision, and intraocular pressure was done. Dilated fundus examination was done with a direct and indirect ophthalmoscope. Age, parity, BP, proteinuria, platelet count, liver and kidney function tests were noted down. The patients with positive findings only were followed up after 72 hours and 6 weeks of termination of pregnancy. Results: The mean age of patients was 26.18±4.33 years (range 18-39 years).157 (44.9%) were primigravida while 193(55.1%) were multigravida.53 (15.1%) patients had eclampsia, 128(36.5%) had mild pre-eclampsia,128(36.5%) had severe pre-eclampsia and 41(11.7%) had chronic hypertension with superimposed pre-eclampsia. Retinal changes were found in 208 patients (59.42%), and grade I changes were the most common. 82(23.14%) patients had grade I changes, 75 (21.4%) had grade II changes, 41(11.71%) had grade III changes, and 11(3.14%) had serous retinal detachment/grade IV changes. 36 patients had unaided visual acuity <6/9, of these 17 had refractive error and 19(5.4%) had varying degrees of retinal changes. 3(0.85%) out of 350 patients had an abnormal field of vision in both eyes. All 3 of them had eclampsia and bilateral exudative retinal detachment. At day 4, retinopathy in 10 patients resolved, and 3 patients had improvement in visual acuity. At 6 weeks, retinopathy in all the patients resolved spontaneously except persistence of grade II changes in 23 patients with chronic hypertension with superimposed pre-eclampsia, while visual acuity and field of vision returned to normal in all patients. Pupillary size, intraocular pressure, and corneal curvature were found to be within normal limits at all times of examination. There was a statistically significant positive association between retinal changes and mean arterial pressure. The study showed a positive correlation between fundus findings and severity of disease (p value<0.05) and mean arterial pressure (p value<0.005). Primigravida had more retinal changes than multigravida patients. A significant association was found between fundus changes and thrombocytopenia and deranged liver and kidney function tests (p value<0.005). Conclusion: As the severity of pre-eclampsia and eclampsia increases, the incidence of retinopathy also increases, and it affects visual acuity and visual fields of the patients. Thus, timely ocular examination should be done in all such cases to prevent complications.

Keywords: eclampsia, hypertensive, ocular, pre-eclampsia

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Authors: Mehdi Moradi Sarmeidani, Peyman Keyhani, Hasan Momtaz

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Chlamydophila psittaci is a avian pathogen that may cause respiratory disorders in humans. Conjunctival and cloacal swabs from 54 captive psittacine birds presented at veterinary clinics were collected to determine the prevalence of C. psittaci in domestic birds in Isfahan. Samples were collected during 2014 from a total of 10 different species of parrots, with African gray(33), Cockatiel lutino(3), Cockatiel gray(2), Cockatiel cinnamon(1), Pearl cockatiel(6), Timneh African grey(1), Ringneck parakeet(2), Melopsittacus undulatus(1), Alexander parakeet(2), Green Parakeet(3) being the most representative species sampled. C. psittaci was detected in 27 (50%) birds using molecular detection (PCR) method. The detection of this bacterium in captive psittacine birds shows that there is a potential risk for human whom has a direct contact and there is a possibility of infecting other birds.

Keywords: chlamydophila psittaci, psittacine birds, PCR, Isfahan

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Authors: Elena Jiménez Lidueña, Noelia Santos Muriel, Patricia López Resa, Noelia Pulido García, Esther Moraleda Sepúlveda

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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 profiles. 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, shows 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: Down Syndrome, Autism, comorbidity, linguistic

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Authors: Heba Esaily, Rawhia Eledl, Daila Aboelela, Rasha Noreldin

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Objective: Assess serum level of Transforming growth factor beta 2 (TGF-β2) and Matrilin-3 (MATN3) SNP6 polymorphism in osteoarthritic patients Background: Osteoarthritis (OA) is a musculoskeletal disease characterized by pain and joint stiffness. TGF-β 2 is involved in chondrogenesis and osteogenesis, It has found that MATN3 gene and protein expression was correlated with the extent of tissue damage in OA. Findings suggest that regulation of MATN3 expression is essential for maintenance of the cartilage extracellular matrix microenvironment Subjects and Methods: 72 cases of primary OA (56 with knee OA and 16 with generalized OA were compared with that of 18 healthy controls. Radiographs were scored with the Kellgren-Lawrence scale. Serum TGF-β2 was measured by using (ELISA), levels of marker were correlated to radiographic grading of disease and MATN3 SNP6 polymorphism was determined by (PCR-RFLP). Results: MATN3 SNP6 polymorphism and serum level of TGF-β2 were higher in OA compared with controls. Genotype, NN and N allele frequency were higher in patients with OA compared with controls. NN genotype and N allele frequency were higher in knee osteoarthritis than generalized OA. Significant positive correlation between level of TGFβ2 and radiographic grading in group with knee OA, but no correlation between serum level of TGFβ2 and radiographic grading in generalized OA. Conclusion: MATN3 SNP6 polymorphism and TGF-β2 implicated in the pathogenesis of osteoarthritis. Association of N/N genotype with primary osteoarthritis emphasizes on the need for prospective study include larger sample size to confirm the results of the present study.

Keywords: Matrilin-3, transforming growth factor beta 2, primary osteoarthritis, knee osteoarthritis

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Authors: Mahdi Akhbardeh

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Synchronization of neuronal firing is a hallmark of several neurological diseases. Recently, stimulation techniques have been developed which make it possible to desynchronize oscillatory neuronal activity in a mild and effective way, without suppressing the neurons' firing. As yet, these techniques are being used to establish demand-controlled deep brain stimulation (DBS) techniques for the therapy of movement disorders like severe Parkinson's disease or essential tremor. We here present a first conceptualization suggesting that the nucleus accumbens is a promising target for the standard, that is, permanent high-frequency, DBS in patients with severe and chronic obsessive-compulsive disorder (OCD). In addition, we explain how demand-controlled DBS techniques may be applied to the therapy of OCD in those cases that are refractory to behavioral therapies and pharmacological treatment.

Keywords: stereotactic neurosurgery, deep brain stimulation, obsessive-compulsive disorder, phase resetting

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Authors: Jana Kisková, Dana Gabriková

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Monoamine oxidase A gene (MAOA) is suggested to be a candidate gene implicated in many neuropsychiatric disorders, including autism spectrum disorder (ASD). This meta-analytic review evaluates the relationship between ASD and MAOA markers such as 30 bp variable number tandem repeats in the promoter region (uVNTR) and single nucleotide polymorphisms (SNPs) by using findings from recently published studies. It seems that in Caucasian males, the risk of developing ASD increase with the presence of 4-repeat allele in the promoter region of MAOA gene whereas no differences were found between autistic patients and controls in Egyptian, West Bengal and Korean population. Some studies point to the importance specific haplotype groups of SNPs and interaction of MAOA with others genes (e.g. FOXP2 or SRY). The results of existing studies are insufficient and further research is needed.

Keywords: autism spectrum disorder, MAOA, uVNTR, single nucleotide polymorphism

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Authors: Cristina Costescu, Carmen David, Adrian Roșan

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Executive functions (EF) and emotion regulation strategies are processes that allow individuals to function in an adaptative way and to be goal-oriented, which is essential for success in daily living activities, at school, or in social contexts. The Emotion Regulation and Executive Functioning Scale for Children and Adolescents (REMEX) represents an empirically based tool (based on the model of EF developed by Diamond) for evaluating significant dimensions of child and adolescent EFs and emotion regulation strategies, mainly in school contexts. The instrument measures the following dimensions: working memory, inhibition, cognitive flexibility, executive attention, planning, emotional control, and emotion regulation strategies. Building the instrument involved not only a top-down process, as we selected the content in accordance with prominent models of FE, but also a bottom-up one, as we were able to identify valid contexts in which FE and ER are put to use. For the construction of the instrument, we implemented three focus groups with teachers and other professionals since the aim was to develop an accurate, objective, and ecological instrument. We used the focus group method in order to address each dimension and to yield a bank of items to be further tested. Each dimension is addressed through a task that the examiner will apply and through several items derived from the main task. For the validation of the instrument, we plan to use item response theory (IRT), also known as the latent response theory, that attempts to explain the relationship between latent traits (unobservable cognitive processes) and their manifestations (i.e., observed outcomes, responses, or performance). REMEX represents an ecological scale that integrates a current scientific understanding of emotion regulation and EF and is directly applicable to school contexts, and it can be very useful for developing intervention protocols. We plan to test his convergent validity with the Childhood Executive Functioning Inventory (CHEXI) and Emotion Dysregulation Inventory (EDI) and divergent validity between a group of typically developing children and children with neurodevelopmental disorders, aged between 6 and 9 years old. In a previous pilot study, we enrolled a sample of 40 children with autism spectrum disorders and attention-deficit/hyperactivity disorder aged 6 to 12 years old, and we applied the above-mentioned scales (CHEXI and EDI). Our results showed that deficits in planning, bebavior regulation, inhibition, and working memory predict high levels of emotional reactivity, leading to emotional and behavioural problems. Considering previous results, we expect our findings to provide support for the validity and reliability of the REMEX version as an ecological instrument for assessing emotion regulation and EF in children and for key features of its uses in intervention protocols.

Keywords: executive functions, emotion regulation, children, item response theory, focus group

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Authors: Smita Lakhotia, C. Kew, S. H. M. Siraj, B. Chern

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Up to 50% of those with endometriosis may suffer from infertility due to either distorted pelvic anatomy/impaired oocyte release or inhibit ovum pickup and transport, altered peritoneal function, endocrine and anovulatory disorders, including LUF, impaired implantation, progesterone resistance or decreased levels of cellular immunity. The dilemma continues as to whether the surgery or IVF is the optimal management for such recurrent endometriomas. The core question is whether surgery adds anything of value for infertile women with recurrent endometriosis or not. Complete and detailed information on risks and benefits of treatment alternatives must be offered to patients, giving a realistic estimate of chances of success of repetitive surgery and of multiple IVF cycles in order to allow unbiased choices between different possible optionsAn individualized treatment plan should be developed taking into account patient age, duration of infertility, previous pregnancies and specific clinical conditions and wish.

Keywords: recurrent endometriosis, infertility, oocyte release, pregnancy

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Authors: Kwangmin Joo

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Automatic detection of lumbar vertebrae and classification method is proposed for evaluating the degree of disc narrowing. Prior to classification, deep learning based segmentation is applied to detect individual lumbar vertebra. M-net is applied to segment five lumbar vertebrae and fine-tuning segmentation is employed to improve the accuracy of segmentation. Using the features extracted from previous step, clustering technique, k-means clustering, is applied to estimate the degree of disc space narrowing under four grade scoring system. As preliminary study, techniques proposed in this research could help building an automatic scoring system to diagnose the severity of disc narrowing from X-ray images.

Keywords: Disc space narrowing, Degenerative disc disorders, Deep learning based segmentation, Clustering technique

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Authors: Lize Tibiriçá, Ronnie Lee, Samantha Behbahani

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Fibromyalgia (FM) is a musculoskeletal disorder affecting men and women of different ages and cultures. The cause of this disorder is unknown; however, studies suggest an etiology that involves biological and psychosocial factors. Few studies have shown that a personality type such as neuroticism is associated with chronic pain conditions. Past research has explored whether patients with FM present with a specific personality trait. However, studies have used different methods (i.e. Minnesota Multiphasic Personality Inventory (MMPI), Sociotropy and Autonomy Scale (SAS) and Dysfunctional Attitude Scale (DAS), Tridimensional Personality Questionnaire or Temperament and Character Inventory (TCI), Karolinska scale of personality, Big Five Inventory or NEO Personality Inventory) to explore the connection between FM and a personality type. They have identified personality types that present similar characteristics but vary in the name (i.e. high harm avoidance and low novelty seeking, psychasthenia/muscular tension/somatic anxiety, neuroticism). Although Zuckerman-Kuhlman Personality Questionnaire and the Big Five Inventory differ in terms of content and structure, both of them identify neuroticism as the personality type of FM patients, and the former also identifies these patients as having a low sociability personality trait. Previous research also shows a trend of sociotropic personality style with FM patients that also suffer from Major Depressive Disorder. Participants in these studies were, for the most part, adult female and researchers have recognized that as a limitation and whether their findings can be generalized to men and younger patients with FM. Furthermore, most studies reviewed were conducted in Europe (i.e. Spain) and had a cross-sectional design. Future research should replicate past studies in different countries and consider conducting a longitudinal study. Although it is suspected that FM course is modulated by FM patients’ personality, it is not known whether individuals with similar personalities will develop FM. This review sought to explain the differences and similarities between the personality types identified. Limitations in the studies reviewed were addressed, and considerations for future research and treatment were discussed.

Keywords: chronic pain, fibromyalgia, neuroticism, personality type

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Authors: Agnieszka Fryźlewicz, Jowita Kras, Mikołaj Sadowski, Agnieszka Łapczuk-Krygier, Agnieszka Kącka-Zych Radomir Jasiński

Abstract:

Nicotines are a group of compounds containing conjugated pyridine and pyrrolidine molecular segments. They are widely applied in medicine, pharmacy, and agriculture. Namely as researched treatment of Alzheimer, depression, Parkinson's, Tourette syndrome, general nervous and mental disorders. Furthermore, nicotine itself is used as a stimulant, animal repellent and was widely applied as an insecticide. In our work, we obtained nicotine analogues with possible applications in agriculture. The synthesis employed [3+2] cycloaddition (32CA) reactions, occurring between pirydyl-functionalised nitrones and conjugated nitroalkenes, that allowed us to fully regio- and stereoselectively obtain product. Moreover, cycloaddition reaction realizes rapidly in mild conditions with the full atomic economy, thus fitting into “green chemistry” trends.

Keywords: nicotine, isoxazolidine, 1-3-dipolar cycloaddition, green chemistry, biological and pharmacological activity

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Authors: Urwah Ali

Abstract:

The aim of this study is to carry out a meta-analysis in order to establish an overall international figure and to summarize the evidence relating to the possible relationship between child sexual abuse and subsequent mental and physical health outcomes. A systematic review was conducted using the HEC Digital Library, Pub Med, PsycINFO and SAHIL databases published after 2010 containing empirical data pertaining to CSA. Out of 124 articles assessed for eligibility, 32 studies provided evidence of a relationship between sexual child maltreatment and various health outcomes for use in subsequent meta-analyses. Statistical significance associations were observed between childhood sexual victimization and psychological problems in their adulthood [odds ratio (OR) = 1.5; 95%Cl 3.07–4.43]. For most studies included for meta-analysis, the odds ratio falls above 1.00, indicating that patients having history of childhood sexual victimization were more likely to develop psychological disorders.

Keywords: abuse, sexual abuse, childhood sexual abuse, mental health

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Authors: Belinda Crissman

Abstract:

Serious mental disorder is greatly overrepresented in prisoners compared to the general community, with consequences for prison management, recidivism and the prisoners themselves. Incarcerated individuals with psychotic disorders experience insufficient detection and treatment and higher rates of suicide in custody. However direct evidence to explain the overrepresentation of individuals with psychosis in prisons is sparse. The current study aimed to use a life course criminology perspective to answer two key questions: 1) What is the temporal relationship between psychosis and offending (does first mental health contact precede first recorded offence, or does the offending precede the mental health diagnosis)? 2) Are there key temporal points or system contacts prior to incarceration that could be identified as opportunities for early intervention? Data from the innovative Queensland Linkage project was used to link individuals with their corrections, health and relevant social service systems to answer these questions.

Keywords: mental disorder, crime, life course criminology, prevention

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Authors: Dilay Akgun Giray

Abstract:

Basic insuffiency spaces of ASD diagnosed individuals can be grouped as cognitive and academic characteristics, communicational characteristics, social characteristics and emotional characteristics. Referring to the features that children with ASD exhibit on social events, it is clear they have limitations for several social skills. One of the evidence based practices which has been developed and used for the limitations of definite social skills for individuals with autism is “Social Story Method”. Social stories was designed and applied for the first time in 1991, a special education teacher, in order to acquire social skills and improve the existing social skills for children with ASD. Many studies have revealed the effectiveness of social stories for teaching the social skills to individuals with ASD. In this study, three social skills that the child ,who was diagnosed ASD, is going to need primarily will be studied with smart board. This study is multiple probe across-behavior design which is one of the single subject research models.

Keywords: authism spectrum disorders, social skills, social story, smart board

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Authors: Elly Usman, S. Dante, Diah Purnamasari

Abstract:

Type 2 diabetes mellitus ( T2DM ) is a syndrome characterized by a state of increased blood sugar levels due to chronic disorders of insulin secretion by pancreatic beta cells and insulin action or a combination of both. The organic cation transporter 1, encoded by the SLC22A1 gene, responsible for the uptake of the antihyperglycemic drug, metformin, in the hepatocyte. We assessed whether a genetic variation in the SLC22A1 gene was associated with the glucose - lowering effect of metformin. Method case study research design. Samples are children with type 2 diabetes mellitus who meet the inclusion criteria. The results proportions SLC22A1 gene polymorphisms in children with diabetes mellitus type 2 amounted to 52.04 % at position 400T/C, there is one heterozygous and one at position 595T/C Conclusion The presence of SLC22A1 gene polymorphisms in children with diabetes mellitus type 2.

Keywords: diabetes Mellitus type 2, metformin, organic cation transporter 1, pharmacogenomics

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Authors: Manav Sabharwal, Ruda Rai Md, Candace Parker, James Ridley

Abstract:

Wheat is one of the most commonly consumed grains worldwide, which contains gluten. Nowadays, gluten intake is considered to be a trigger for GRDs, including Celiac disease (CD), a common genetic disease affecting 1% of the US population, non-celiac gluten sensitivity (NCGS) and wheat allergy. NCGS is being recognized as an acquired gluten-sensitive enteropathy that is prevalent across age, ethnic and geographic groups. The cause of this entity is not fully understood, and recent studies suggest that it is more common in participants with irritable bowel syndrome (IBS), with iron deficiency anemia, symptoms of fatigue, and has considerable overlap in symptoms with IBS and Crohn’s disease. However, these studies were lacking in availability of complete serologies, imaging tests and/or pan-endoscopy. We performed a prospective study of 745 adult patients who presented to an outpatient clinic for evaluation of chronic upper gastro-intestinal symptoms and subsequently underwent an upper endoscopic (EGD) examination as standard of care. Evaluation comprised of comprehensive celiac antibody panel, inflammatory bowel disease (IBD) serologic markers, duodenal biopsies and Small Bowel Video Capsule Endoscopy (VCE), when available. At least 6 biopsy specimens were obtained from the duodenum and proximal jejunum during EGD, and CD3+ Intraepithelial lymphocytes (IELs) and villous architecture were evaluated by a single experienced pathologist, and VCE was performed by a single experienced gastroenterologist. Of the 745 patients undergoing EGD, 12% (93/745) patients showed elevated CD3+ IELs in the duodenal biopsies. 52% (387/745) completed a comprehensive CD panel and 7.2% (28/387) were positive for at least 1 CD antibody (Tissue transglutaminase (tTG), being the most common antibody in 65% (18/28)). Of these patients, 18% (5/28) showed increased duodenal CD3+ IELs, but 0% showed villous blunting or distortion to meet criteria for CD. Surprisingly, 43% (12/28) were positive for at 1 IBD serology (ASCA, ANCA or expanded IBD panel (LabCorp)). Of these 28 patients, 29% (8/28) underwent a SB VCE, of which 100 % (8/8) showed significant jejuno-ileal mucosal lesions diagnostic for IBD. Findings of abnormal CD antibodies (7.2%, 28/387) and increased CD3+ IELs on duodenal biopsy (12%, 93/745) were observed frequently in patients with UGI symptoms undergoing EGD in an outpatient clinic. None met criteria for CD, and a high proportion (43%, 12/28) showed evidence of overlap with IBD. This suggests a potential causal link of acquired GRDs to underlying inflammation and gut mucosal barrier disruption. Further studies to investigate a role for abnormal antigen presentation of dietary gluten to gut associated lymphoid tissue as a cause are justified. This may explain a high prevalence of GRDs in the population and correlation with IBS, IBD and other gut inflammatory disorders.

Keywords: celiac, gluten sensitive enteropathy, lymphocitic enteritis, IBS, IBD

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Authors: E. Wairimu Mwangi, Daniel Sarpong

Abstract:

Background: Access to effective antiretroviral therapy in the United States has resulted in the rise in longevity in people living with HIV (PLHIV). Despite the progress, women living with HIV (WLWH) experience increasing rates of cardiometabolic disorders compared with their HIV-negative counterparts. Studies focusing on the predictors of metabolic disorders in this population have largely focused on the composite measure of metabolic syndrome (METs). This study seeks to identify the predictors of composite and individual METs factors in a nationally representative sample of WLWH. In particular, the study also examines the role of food security in predicting METs. Methods: The study comprised 1800 women, a subset of participants from the Women’s Interagency HIV Study (WIHS). The primary exposure variable, food security, was measured using the U.S. 10-item Household Food Security Survey Module. The outcome measures are the five metabolic syndrome indicators (elevated blood pressure [systolic BP > 130 mmHg and diastolic BP ≥ 85 mmHg], elevated fasting glucose [≥ 110 mg/dL], elevated fasting triglyceride [≥ 150 mg/dL], reduced HDL cholesterol [< 50 mg/dL], and waist circumference > 88 cm) and the composite measure - Metabolic Syndrome (METs) Status. Each metabolic syndrome indicator was coded one if yes and 0 otherwise. The values of the five indicators were summed, and participants with a total score of 3 or greater were classified as having metabolic syndrome. Participants classified as having metabolic syndrome were assigned a code of 1 and 0 otherwise for analysis. The covariates accounted for in this study fell into sociodemographic factors and behavioral and health characteristics. Results: The participants' mean (SD) age was 47.1 (9.1) years, with 71.4% Blacks and 10.9% Whites. About a third (33.1%) had less than a high school (HS) diploma, 60.4% were married, 32.8% were employed, and 53.7% were low-income. The prevalence of worst dietary diversity, low, moderate, and high food security were 24.1%, 26.6%, 17.0%, and 56.4%, respectively. The correlate profile of the five individual METs factors plus the composite measure of METs differ significantly, with METs based on HDL having the most correlates (Age, Education, Drinking Status, Low Income, Body Mass Index, and Health Perception). Additionally, metabolic syndrome based on waist circumference was the only metabolic factor where food security was significantly correlated (Food Security, Age, and Body Mass Index). Age was a significant predictor of all five individual METs factors plus the composite METs measure. Except for METs based on Fasting Triglycerides, body mass index (BMI) was a significant correlate of the various measures of metabolic syndrome. Conclusion: High-density Lipoprotein (HDL) cholesterol significantly correlated with most predictors. BMI was a significant predictor of all METs factors except Fasting Triglycerides. Food insecurity, the primary predictor, was only significantly associated with waist circumference.

Keywords: blood pressure, food insecurity, fasting glucose, fasting triglyceride, high-density lipoprotein, metabolic syndrome, waist circumference, women living with HIV

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