Search results for: rare disorders

Authors: Lydia Foucan, Christine Rambhojan, Rachel Billy, Christophe Armand, Carl-Thony Michel, Jean-Marc Lacorte, Laurent Larifla

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Leptin, an adipocyte-derived hormone, modulates insulin secretion and action via the leptin receptor (LEPR) that is expressed in pancreatic beta cells, adipose tissue, and muscle. Several polymorphisms have been described in the human LEPR gene including p.K109R (rs1137100), p.Q223R (rs1137101) and p.K656N (rs1805094) polymorphisms. The role of these polymorphisms is not yet studied in Guadeloupian population. Our aim was to explore the association of LEPR polymorphisms (K109R, Q223R and K656N) with leptin levels and obesity in non-diabetic Afro-Caribbean subjects. Genotypic analysis of the three polymorphisms was performed in 425 subjects using TaqMan and KASPar Assays. Serum leptin was measured with ELISA kits Biovendor® (RD191001100). Logistic regressions were used for assessment of statistical associations. Mean age was 47.6 ± 12.7 years. Among the participants, 238 (56 %) were women, 124 (30%) were obese and 155 (36.5%) had abdominal obesity. Carriers of LEPR K656N rs1805094 rare allele had significant higher frequencies of obesity (P = 0.007), abdominal obesity (P = 0.004) and metabolic syndrome (P = 0.021) but mean leptin level was not significantly different between both groups (P = 0.075). Odds ratios, adjusted for age and sex associated with presence of rs1805094 rare allele were 1.8 (1.1-2.9), P = 0.012 for obesity, 2.0 (1.2-3.3), P = 0.008 for abdominal obesity and 1.8 (1.1-3.0), P = 0.031 for MetS. No significant association was found with K109R, Q223R. These findings suggest that the K656N polymorphism (but not the K109R or Q223R polymorphism) of LEPR is associated with obesity, abdominal obesity and metabolic syndrome in this Afro-Caribbean non-diabetic population.

Keywords: Afro-Caribbean, leptin levels, leptin receptor gene polymorphisms, obesity

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Authors: Paul E. Priester

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The Twelve Step approach to recovery from substance use and addictive disorders is considered an evidence-based model that assists many who recover from a chronic, progressive, fatal disease. Two key processes that contribute to the success of obtaining recovery from substance use disorders (SUD) are meeting engagement and the development of spiritual beliefs. Beyond establishing that there is a positive relationship between the development of spiritual beliefs in recovery from SUD’s, there has been a paucity of research exploring individual differences among individuals in this development of spiritual beliefs. One such personality variable that deserves exploration is that of the need for cognition. The need for cognition is a personality variable that explains the cognitive style of individuals. Individuals with a high need for cognition enjoy examining the complexities of a situation before coming to a conclusion. While individuals with a low need for cognition do not value or spend time cognitively dissecting a situation or decision. It is important to point out that a high need for cognition does not necessarily imply a high level of cognitive ability. Indeed, one could make the argument that a low need for cognition individual is not “wasting” cognitive energy in perseverating the multitude of aspects of a particular decision. This paper will present two case studies demonstrating the development of spiritual beliefs that enabled long-term recovery from SUD. The first case study presents an agnostic individual with a low need for cognition cognitive style in his development of spirituality in support of his recovery from alcoholism within the context of Alcoholics Anonymous. The second case study represents an adamant atheist with a high need for cognition cognitive style. This second individual is an intravenous cocaine addict and alcoholic who recovers through the development of spirituality within the contexts of Alcoholics Anonymous and Narcotics Anonymous. The two case studies will be contrasted with each other, noting how the individuals’ cognitive style mediated the development of spirituality that supported their long-term recovery from alcoholism and addiction.

Keywords: spirituality, twelve step recovery, need for cognition, individual differences in recovery from addictions

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Authors: Ahmed El-Sabbagh, Heba Mansour, Magdy El-Hedeny

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This study provided a taphonomic alteration and paleoecology of Cenomanian oysters from the Musabaa Salama area, south western Sinai, Egypt. Three oyster zones can be recognized in the studied area, a lower one of Amphidonte (Ceratostreon) flabellatum (lower-middle Cenomanian), a middle zone of Ilymatogyra (Afrogyra) africana (upper Cenomanian) and an upper one of Exogyra (Costagyra) olisiponensis (upper Cenomanian). Taphonomic features including disarticulation, fragmentation, encrustation and bioerosion were subjected to multivariate statistical analyses. The analyses showed that the distributions of the identified ichnospecies were greatly similar within the identified oyster zones in the Musabaa Salama section. With rare exceptions, Entobia cretacea, Gastrochaenolites torpedo and Maeandropolydora decipiens are considered as common to abundant ichnospecies within the three recorded oyster zones. In contrast, and with some exceptions, E. ovula, E. retiformis and Rogerella pattei are considered as frequent to common ichnospecies within the identified oyster zones. Other ichnospecies, including Caulostrepsis cretacea, G. orbicularis, Trypanites solitarius, E. geometrica and C. taeniola, are mostly recorded in rare to frequent occurrences. Careful investigation of these host shells and the preserved encrusters and/or bioerosion sculptures provided data concerning: 1) the substrate characteristics, 2) time of encrustation and bioerosion, 3) rate of sedimentation, 4) the planktonic productivity level, and 5) the general bathymetry and the rate of transgression across the substrate.

Keywords: oysters, Cenomanian, taphonomy, palaeoecology, Sinai, Egypt

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Authors: Hannah Nagel, Hayley Lang, Albert Sole Guitart, Natasha Lean, Rachel Allavena, Cleide Sprohnie-Barrera, Alex Young

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Aggressive neoplasia of the hoof is a rare occurrence in horses and has been only sporadically described in the literature. In the few cases reported intra-hoof wall, aggressive neoplasia has been documented radiographically and has been described with variable imaging characteristics. These include a well-defined osteolytic area, a smoothly outlined semi-circular defect, an extensive draining tract beneath the hoof wall, as well as an additional large area of osteolysis or an extensive central lytic region. A 20-year-old Quarterhorse gelding and a 10-year-old Thoroughbred gelding were both presented for chronic reoccurring lameness in the left forelimb and left hindlimb, respectively. Both of the cases displayed radiographic lesions that have been previously described but also displayed osteoproliferative expansile regions of additional bone formation. Changes associated with hoof neoplasia are often non-specific due to the nature and capacity of bone to react to pathological insult, which is either to proliferate or be absorbed. Both cases depict and describe imaging findings seen on radiography, contrast radiography, computed tomography, and magnetic resonance imaging before reaching a histological diagnosis of malignant melanoma and squamous cell carcinoma. Although aggressive hoof wall neoplasia is rare, there are some imaging features which may raise our index of suspicion for an aggressive hoof wall lesion. This case report documents two horses with similar imaging findings who underwent multiple assessments, surgical interventions, and imaging modalities with a final diagnosis of malignant neoplasia.

Keywords: horse, hoof, imaging, radiography, neoplasia

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Authors: André Rui Coelho Fernandes, Mariana Rufino, Divakar Hamal, Amr Sousa, Emma Fossett, Kamalpreet Cheema

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Aim: A single patella tendon rupture is relatively uncommon, but a simultaneous bilateral event is a rare occurrence and has been scarcely reviewed in the literature. This review was carried out to analyse the existing literature on this event, with the aim of proposing a standardised approach to the diagnosis and management of this injury. Methods: A systematic review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Three independent reviewers conducted searches in PubMed, OvidSP for Medline and Embase, as well as Cochrane Library using the same search strategy. From a total of 183 studies, 45 were included, i.e. 90 patellas. Results: 46 patellas had a Type 1 Rupture equating to 51%, with Type 3 being the least common, with only 7 patellas sustaining this injury. The mean Insall-Salvio ratio for each knee was 1.62 (R) and 1.60 (L) Direct Primary Repair was the most common surgical technique compared to Tendon Reconstruction, with End to End and Transosseous techniques split almost equally. Brace immobilisation was preferred over cast, with a mean start to weight-bearing of 3.23 weeks post-op. Conclusions: Bilateral patellar tendon rupture is a rare injury that should be considered in patients with knee extensor mechanism disruption. The key limitation of this study was the low number of patients encompassed by the eligible literature. There is space for a higher level of evidence study, specifically regarding surgical treatment choice and methods, as well as post-operative management, which could potentially improve the outcomes in the management of this injury.

Keywords: trauma and orthopaedic surgery, bilateral patella, tendon rupture, trauma

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Authors: Derick Shi-Chen Ou, Liang-Yu Chen

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Background: Acupuncture, a potential alternative, and complementary therapy revealed insufficient evidence in depression treatment. The efficacy of acupuncture treatment was still uncertainty. To evaluate the effect of acupuncture in treating depression, the randomized controlled trials (RCTs) were examined. Methods: RCTs of the acupuncture therapy in treating major depression were searched from MEDLINE from 2007 to 2017. Keywords used for searching strategy included acupuncture, acupoint, and major depressive disorder. Results: Among the nine RCTs, four studies demonstrated great improvement in acupuncture treatment and five studies revealed the effectiveness of acupuncture intervention in medication. General trends suggest that acupuncture treatment is as effective as antidepressants with minimal side effects. Conclusion: Despite the promising results from the RCTs, there are still a variety of limitations, including small sample size, imprecise enrollment criteria, difficulties with blinding, randomization, short duration of study and lack of longitudinal follow-up. Therefore, the evidence that acupuncture as an alternative therapy for depression is inconclusive. More rigorously designed RCTs should be conducted in the future.

Keywords: acupuncture, major depressive disorders, randomized clinical trials, antidepressants

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Authors: Hassan Shahmiri Barzoki

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Background: Posttraumatic stress disorder (PTSD) is an abnormal physiologic and psychological reaction in person with severe traumatic history. In recent studies, the relationship between PTSD and some other disease apparently unrelated to psychological situations, such as cardiovascular diseases, diabetes, and metabolic syndrome, has been revealed. Thus, the aim of this study was to survey the prevalence of metabolic syndrome and mental health in PTSD patients. Methods: The research design was retrospective cohort study. Subjects were consisted of 142 Iran-Iraq war veterans with PTSD (age: 40-60 years), and the control group was consisted of 153 veterans without PTSD. Data was collected using questionnaires, physical exams and laboratory tests. Results: Prevalence of metabolic syndrome was 45.1%in PTSD group and 17% in control group. In addition, blood pressure, triglyceride and fasting blood sugar in PTSD group were significantly higher than control group (p<0.05). Also, PTSD patients had significant high rates of psychiatric disorders. Conclusion: PTSD patients are more prone to metabolic syndrome and psychiatric disorders than control group.

Keywords: mental health, metabolic syndrome, post traumatic stress disorder, patient

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Authors: M. Skibinska, A. Rajewska-Rager, M. Dmitrzak-Weglarz, N. Lepczynska, P. Sibilski, P. Kapelski, J. Pawlak, J. Twarowska-Hauser

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Introduction: Neurotrophic factors have been implicated in neuropsychiatric disorders. Brain-Derived Neurotrophic Factor (BDNF) influences neuron differentiation in development as well as synaptic plasticity and neuron survival in adulthood. BDNF is widely studied in mood disorders and has been proposed as a biomarker for depression. BDNF is synthesized as precursor protein – proBDNF. Both forms are biologically active and exert opposite effects on neurons. Aim: The aim of the study was to examine the serum levels of BDNF and proBDNF in unipolar and bipolar young patients below 24 years old during hypo/manic, depressive episodes and in remission compared to healthy control group. Methods: In a prospective 2 years follow-up study, we investigated alterations in levels of BDNF and proBDNF in 79 patients (23 males, mean age 19.08, SD 3.3 and 56 females, mean age 18.39, SD 3.28) diagnosed with mood disorders: unipolar and bipolar disorder compared with 35 healthy control subjects (7 males, mean age 20.43, SD 4.23 and 28 females, mean age 21.25, SD 2.11). Clinical characteristics including mood, comorbidity, family history, and treatment, were evaluated during control visits and clinical symptoms were rated using the Hamilton Depression Rating Scale and Young Mania Rating Scale. Serum BDNF and proBDNF concentrations were determined by Enzyme-Linked Immunosorbent Assays (ELISA) method. Serum BDNF and proBDNF levels were analysed with covariates: sex, age, age > 18 and < 18 years old, family history of affective disorders, drug-free vs. medicated status. Normality of the data was tested using Shapiro-Wilk test. Levene’s test was used to calculate homogeneity of variance. Non-parametric Tests: Mann-Whitney U test, Kruskal-Wallis ANOVA, Friedman’s ANOVA, Wilcoxon signed rank test, Spearman correlation coefficient were applied in analyses The statistical significance level was set at p < 0.05. Results: BDNF and proBDNF serum levels did not differ between patients at baseline and controls as well as comparing patients in acute episode of depression/hypo/mania at baseline and euthymia (at month 3 or 6). Comparing BDNF and proBDNF levels between patients in euthymia and control group no differences have been found. Increased BDNF level in women compared to men at baseline (p=0.01) have been observed. BDNF level at baseline was negatively correlated with depression and mania occurence at 24 month (p=0.04). BDNF level at 12 month was negatively correlated with depression and mania occurence at 12 month (p=0.01). Correlation of BDNF level with sex have been detected (p=0.01). proBDNF levels at month 3, 6 and 12 negatively correlated with disease status (p=0.02, p=0.008, p=0.009, respectively). No other correlations of BDNF and proBDNF levels with clinical and demographical variables have been detected. Discussion: Our results did not show any differences in BDNF and proBDNF levels between depression, mania, euthymia, and controls. Imbalance in BDNF/proBDNF signalling may be involved in pathogenesis of mood disorders. Further studies on larger groups are recommended. Grant was founded by National Science Center in Poland no 2011/03/D/NZ5/06146.

Keywords: bipolar disorder, Brain-Derived Neurotrophic Factor (BDNF), proBDNF, unipolar depression

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Authors: Jelena Vucicevic

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Reliability analysis represents a very important task in different areas of work. In any industry, this is crucial for maintenance, efficiency, safety and monetary costs. There are ways to calculate reliability, unreliability, failure density and failure rate. In this paper, the results for the reliability of diesel generator fans were calculated through Extreme Value Theory. The Extreme Value Theory is not widely used in the engineering field. Its usage is well known in other areas such as hydrology, meteorology, finance. The significance of this theory is in the fact that unlike the other statistical methods it is focused on rare and extreme values, and not on average. It should be noted that this theory is not designed exclusively for extreme events, but for extreme values in any event. Therefore, this is a great opportunity to apply the theory and test if it could be applied in this situation. The significance of the work is the calculation of time to failure or reliability in a new way, using statistic. Another advantage of this calculation is that there is no need for technical details and it can be implemented in any part for which we need to know the time to fail in order to have appropriate maintenance, but also to maximize usage and minimize costs. In this case, calculations have been made on diesel generator fans but the same principle can be applied to any other part. The data for this paper came from a field engineering study of the time to failure of diesel generator fans. The ultimate goal was to decide whether or not to replace the working fans with a higher quality fan to prevent future failures. The results achieved in this method will show the approximation of time for which the fans will work as they should, and the percentage of probability of fans working more than certain estimated time. Extreme Value Theory can be applied not only for rare and extreme events, but for any event that has values which we can consider as extreme.

Keywords: extreme value theory, lifetime, reliability analysis, statistic, time to failure

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Authors: Mohsen Rabbani, Trista McLaughlin, Ehsan Vahidi

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the remediation of polluted sites with heavy metals, such as rare earth elements (REEs), has been a primary concern of researchers to decontaminate the soil. Among all developed methods to address this concern, phytoremediation has been established as efficient, cost-effective, easy-to-use, and environmentally friendly way, providing a long-term solution for addressing this global concern. Furthermore, this technology has another great potential application in the metals production sector through returning metals buried in soil via metals cropping. Considering the significant metal concentration in hyper-accumulators, the utilization of bioaccumulated metals to extract metals from plant matter has been proposed as a sub-economic area called phytomining. As a recent, more advanced technology to eliminate such pollutants from the soil and produce critical metals, bioharvesting (phytomining/agromining) has been considered another compromising way to produce metals and meet the global demand for critical/target metals. The bio-ore obtained from phytomining can be safely disposed of or introduced to metal production pathways to obtain the most demanded metals, such as REEs. It is well-known that some hyperaccumulators, e.g., fern Dicranopteris linearis, can be used to absorb REE metals from the polluted soils and accumulate them in plant organs, such as leaves and stems. After soil remediation, the plant species can be harvested and introduced to the downstream steps, namely crushing/grinding, leaching, and purification processes, to extract REEs from plant matter. This novel interdisciplinary field can fill the gap between agriculture, mining, metallurgy, and the environment. Despite the advantages of agromining for the REEs production industry, key issues related to the environmental sustainability of the entire life cycle of this new concept have not been assessed yet. Hence, a comparative life cycle assessment (LCA) study was conducted to quantify the environmental footprints of REEs phytomining. The current LCA study aims to estimate and calculate environmental effects associated with phytomining by considering critical factors, such as climate change, land use, and ozone depletion. The results revealed that phytomining is an easy-to-use and environmentally sustainable approach to either eliminate REEs from polluted sites or produce REEs, offering a new source of such metals production. This LCA research provides guidelines for researchers active in developing a reliable relationship between agriculture, mining, metallurgy, and the environment to encounter soil pollution and keep the earth green and clean.

Keywords: phytoremediation, phytomining, life cycle assessment, environmental impacts, rare earth elements, hyperaccumulator

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Authors: Daniel Aberdam

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Haploinsufficiency of PAX6 in humans is the main cause of congenital aniridia, a rare eye disease characterized by reduced visual acuity. Patients have also progressive disorders including cataract, glaucoma and corneal abnormalities making their condition very challenging to manage. Aniridia-related keratopathy (ARK), caused by a combination of factors including limbal stem-cell deficiency, impaired healing response, abnormal differentiation, and infiltration of conjunctival cells onto the corneal surface, affects up to 95% of patients. It usually begins in the first decade of life resulting in recurrent corneal erosions, sub-epithelial fibrosis with corneal decompensation and opacification. Unfortunately, current treatment options for aniridia patients are currently limited. Although animal models partially recapitulate this disease, there is no in vitro cellular model of AKT needed for drug/therapeutic tools screening and validation. We used genome editing (CRISPR/Cas9 technology) to introduce a nonsense mutation found in patients into one allele of the PAX6 gene into limbal stem cells. Resulting mutated clones, expressing half of the amount of PAX6 protein and thus representative of haploinsufficiency were further characterized. Sequencing analysis showed that no off-target mutations were induced. The mutated cells displayed reduced cell proliferation and cell migration but enhanced cell adhesion. Known PAX6 targets expression was also reduced. Remarkably, addition of soluble recombinant PAX6 protein into the culture medium was sufficient to activate endogenous PAX6 gene and, as a consequence, rescue the phenotype. It strongly suggests that our in vitro model recapitulates well the epithelial defect and becomes a powerful tool to identify drugs that could rescue the corneal defect in patients. Furthermore, we demonstrate that the homeotic transcription factor Pax6 is able to be uptake naturally by recipient cells to function into the nucleus.

Keywords: Pax6, crispr/cas9, limbal stem cells, aniridia, gene therapy

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Authors: G. Singh, H.Schuster, U. Füssel

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The stability of electric arc and durability of electrode tip used in Tungsten Inert Gas (TIG) welding demand a metallurgical study about the chemical transport mechanism of emitter oxide particles in tungsten electrode during its real welding conditions. The tungsten electrodes doped with emitter oxides of rare earth oxides such as La₂O₃, Th₂O₃, Y₂O₃, CeO₂ and ZrO₂ feature a comparatively lower work function than tungsten and thus have superior emission characteristics due to lesser surface temperature of the cathode. The local change in concentration of these emitter particles in tungsten electrode due to high temperature diffusion (chemical transport) can change its functional properties like electrode temperature, work function, electron emission, and stability of the electrode tip shape. The resulting increment in tip surface temperature results in the electrode material loss. It was also observed that the tungsten recrystallizes to large grains at high temperature. When the shape of grain boundaries are granular in shape, the intergranular diffusion of oxide emitter particles takes more time to reach the electrode surface. In the experimental work, the microstructure of the used electrode's tip surface will be studied by scanning electron microscope and reflective X-ray technique in order to gauge the extent of the diffusion and chemical reaction of emitter particles. Besides, a simulated model is proposed to explain the effect of oxide particles diffusion on the electrode’s microstructure, electron emission characteristics, and electrode tip erosion. This model suggests metallurgical modifications in tungsten electrode to enhance its erosion resistance.

Keywords: rare-earth emitter particles, temperature-dependent diffusion, TIG welding, Tungsten electrode

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Authors: Antarip Bhattacharya, Dhritiman Maitra

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Primary hyperparathyroidism (PHPT) is the most common cause of hypercalcemia due to autonomous production of parathormone (PTH) and the third most common endocrine disorder. Upto 2% of postmenopausal women could have this condition. Primary hyperparathyroidism is characterized by hypercalcemia with a high or insufficiently suppressed level of parathyroid hormone and is caused by a solitary parathyroid adenoma in 85-90% of patients. PHPT may also be caused by parathyroid hyperplasia (involving multiple glands) or parathyroid carcinoma. Associated morbidities and sequelae include decreased bone mineral density, fractures, kidney stones, hypertension, cardiac comorbidities and psychiatric disorder which entail huge costs for treatment. In the year 2021, by virtue of running a Breast and Endocrine Surgery clinic in a Tier 1 city at a tertiary care hospital, the opportunity to be associated with patients of hyperparathyroidism came our way. Here, we shall describe the spectrum of clinical presentations and customisation of treatment for parathyroid diseases with reference to the above patients. A retrospective analysis of the data of all patients presenting with symptoms of parathyroid diseases was made and classified according to the cause. 13 patients had presented with symptoms of hyperparathyroidism and each case presented with unique symptoms and necessitated detailed evaluation. The treatment or surgery offered to each patient was tailored to his/her individual disease and led to favourable outcomes. Diseases affecting parathyroid are not as rare as we believe. Each case merits detailed clinical evaluation, investigations and tailoring of suitable treatment with regard to medical management and extent of surgery. Intra-operative frozen section/iOPTH monitoring are really useful adjuncts for intra-operative decision making.

Keywords: hyperparathyroidism, parathyroid adenoma, parathyroid surgery, PTH

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Authors: Jessica A. Hellings, Piyushkumar Jani

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Background: Systemic autoimmune disorders are increasingly implicated in neuropsychiatric illness, especially in the setting of treatment resistance in individuals of all ages. Gluten allergy in fullest extent results in celiac disease, affecting multiple organs including central nervous system (CNS). Clinicians often lack awareness of the association between neuropsychiatric illness and gluten allergy, partly since many such research studies are published in immunology and gastroenterology journals. Methods: Following a Pubmed literature search and online searches on celiac disease websites, 40 articles are critically reviewed in detail. This work reviews celiac disease, gluten intolerance and current evidence of their relationship to neuropsychiatric and systemic illnesses. The review also covers current work-up and diagnosis, as well as dietary interventions, gluten restriction outcomes, and future research directions. Results: Gluten allergy in susceptible individuals damages the small intestine, producing a leaky gut and malabsorption state, as well as allowing antibodies into the bloodstream, which attack major organs. Lack of amino acid precursors for neurotransmitter synthesis together with antibody-associated brain changes and hypoperfusion may result in neuropsychiatric illness. This is well documented; however, studies in neuropsychiatry are often small. In the large CATIE trial, subjects with schizophrenia had significantly increased antibodies to tissue transglutaminase (TTG), and antigliadin antibodies, both significantly greater gluten antibodies than in control subjects. On later follow up, TTG-6 antibodies were identified in these subjects’ brains but not in their intestines. Significant evidence mostly from small studies also exists for gluten allergy and celiac-related depression, anxiety disorders, attention-deficit/hyperactivity disorder, autism spectrum disorders, ataxia, and epilepsy. Dietary restriction of gluten resulted in remission in several published cases, including for treatment-resistant schizophrenia. Conclusions: Ongoing and larger studies are needed of the diagnosis and treatment efficacy of the gluten-free diet in neuropsychiatric illness. Clinicians should ask about the patient history of anemia, hypothyroidism, irritable bowel syndrome and family history of benefit from the gluten-free diet, not limited to but especially in cases of treatment resistance. Obtaining gluten antibodies by a simple blood test, and referral for gastrointestinal work-up in positive cases should be considered.

Keywords: celiac, gluten, neuropsychiatric, translational

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Authors: Maliheh Raji, Hossein Abolghasemi, Jaber Safdari, Ali Kargari

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Dysprosium is a rare earth element which is essential for many growing high-technology applications. Dysprosium along with neodymium plays a significant role in different applications such as metal halide lamps, permanent magnets, and nuclear reactor control rods preparation. The purification and separation of rare earth elements are challenging because of their similar chemical and physical properties. Among the various methods, membrane processes provide many advantages over the conventional separation processes such as ion exchange and solvent extraction. In this work, selective extraction and separation of dysprosium from aqueous solutions containing an equimolar mixture of dysprosium and neodymium by emulsion liquid membrane (ELM) was investigated. The organic membrane phase of the ELM was a nanofluid consisting of multiwalled carbon nanotubes (MWCNT), Span80 as surfactant, Cyanex 272 as carrier, kerosene as base fluid, and nitric acid solution as internal aqueous phase. Factors affecting separation of dysprosium such as carrier concentration, MWCNT concentration, feed phase pH and stripping phase concentration were analyzed using Taguchi method. Optimal experimental condition was obtained using analysis of variance (ANOVA) after 10 min extraction. Based on the results, using MWCNT nanofluid in ELM process leads to increase the extraction due to higher stability of membrane and mass transfer enhancement and separation factor of 6 for dysprosium over neodymium can be achieved under the optimum conditions. Additionally, demulsification process was successfully performed and the membrane phase reused effectively in the optimum condition.

Keywords: emulsion liquid membrane, MWCNT nanofluid, separation, Taguchi method

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Authors: Fernanda Miranda da Cruz

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This paper aims to systematize, descriptively and analytically, the relations between language, body and material world explored in a specific empirical context: everyday co-presence interactions between children diagnosed with Autistic Spectrum Disease ASD and various interlocutors. We will work based on 20 hours of an audiovisual corpus in Brazilian Portuguese language. This analysis focuses on 1) the analysis of daily interactions that have the presence/participation of subjects with a diagnosis of ASD based on an embodied interaction perspective; 2) the study of the status and role of gestures, body and material world in the construction and constitution of human interaction and its relation with linguistic-cognitive processes and Autistic Spectrum Disorders; 3) to highlight questions related to the field of videoanalysis, such as: procedures for recording interactions in complex environments (involving many participants, use of objects and body movement); the construction of audiovisual corpora for linguistic-interaction research; the invitation to a visual analytical mentality of human social interactions involving not only the verbal aspects that constitute it, but also the physical space, the body and the material world.

Keywords: autism spectrum disease, multimodality, social interaction, non-verbal interactions

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Authors: Yula Milshteyn

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The present study focuses on the science of the “Soul” in Islamic Medieval Psychology.The main objective of the current essay is to analyze the concept of the “soul” in relation to “mental” disorders, in the philosophical psychology and medicinal treatise of Ibn Sina, a Muslim Persian physician-philosopher (known as Avicenna in the Western world) (981-1037 CE). The examination will concentrate on the nature of the soul, and the relationship of the soul to the body, as well as the manifestation of health and sickness in soul and body, The analysis draws on Avicenna’s Psychology (Kitab al-Najat or The Book of Salvation), Remarks and Admonitions (Al-isharat wa al-tanbihat), and the medical treatise – The Canon of Medicine (al-Qānūn fī al-Ṭibb). Avicenna’s psychology of the soul is primarily based on Aristotelian and Neo-platonic paradigms. For Avicenna, soul is a metaphysical, independent substance, which in modern terms implies independence of human consciousness from the material body. The soul however, is linked to the body and controls all its’ faculties or functions. It is suggested that in the specific case study of schizophrenia, it is a disorder pertained to both, soul and body and can be characterized as a multi-faceted neurobiological, physiological, psychological and metaphysical spiritual phenomenon.

Keywords: Avicenna, canon of the medicine, mental disorders, psychology, schizophrenia, soul-body

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Authors: Joseph Wolff, Jeffrey Eilbott

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Autism Spectrum Disorders (ASD) are a spectrum of social disorders characterized by deficits in social communication, verbal ability, and interaction that can vary in severity. In recent years, researchers have used magnetic resonance imaging (MRI) to help detect how neural patterns in individuals with ASD differ from those of neurotypical (NT) controls for classification purposes. This study analyzed the classification of ASD within males and females using functional MRI data. Functional connectivity (FC) correlations among brain regions were used as feature inputs for machine learning algorithms. Analysis was performed on 558 cases from the Autism Brain Imaging Data Exchange (ABIDE) I dataset. When trained specifically on females, the algorithm underperformed in classifying the ASD subset of our testing population. Although the subject size was relatively smaller in the female group, the manual matching of both male and female training groups helps explain the algorithm’s bias, indicating the altered sex abnormalities in functional brain networks compared to typically developing peers. These results highlight the importance of taking sex into account when considering how generalizations of findings on males with ASD apply to females.

Keywords: autism spectrum disorder, machine learning, neuroimaging, sex differences

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Authors: Lokvendra S. Budania, Yogesh K Gaude, Vamsidhar Chamala

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Introduction: Congenitally corrected transposition of great arteries (CCTGA) is a complex congenital heart disease where there are both atrioventricular and ventriculoarterial discordances, usually accompanied by other cardiovascular malformations. Case Report: A 24-year-old primigravida known case of CCTGA at 37 weeks of gestation was referred to our hospital for safe delivery. Her electrocardiogram showed HR-40/pm, echocardiography showed Ejection Fraction of 65% and CCTGA. Temporary pacemaker was inserted by cardiologist in catheterization laboratory, before giving trial of labour in view of complete heart block. She was planned for normal delivery, but emergency Caesarean section was planned due to non-reassuring foetal Cardiotocography Pre-op vitals showed PR-50 bpm with temporary pacemaker, Blood pressure-110/70 mmHg, SpO2-99% on room air. Nil per oral was inadequate. Patency of two peripheral IV cannula checked and left radial arterial line secured. Epidural Anaesthesia was planned, and catheter was placed at L2-L3. Test dose was given, Anaesthesia was provided with 5ml + 5ml of 2% Lignocaine with 25 mcg Fentanyl and further 2.5Ml of 0.5% Bupivacaine was given to achieve a sensory level of T6. Cesarean section was performed and baby was delivered. Cautery was avoided during this procedure. IV Oxytocin (15U) was added to 500 mL of ringer’s lactate. Hypotension was treated with phenylephrine boluses. Patient was shifted to post-operative care unit and later to high dependency unit for monitoring. Post op vitals remained stable. Temporary pacemaker was removed after 24 hours of surgery. Her post-operative period was uneventful and discharged from hospital. Conclusion: Rare congenital cardiac disorders require detail knowledge of pathophysiology and associated comorbidities with the disease. Meticulously planned and carefully titrated neuraxial techniques will be beneficial for such cases.

Keywords: congenitally corrected transposition of great arteries, complete heart block, emergency LSCS, epidural anaesthesia

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Authors: Cenza Rhoda, Falone Sunda, Elvis Kidzeru, Nonhlanhla P. Khumalo, Afolake Arowolo

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Introduction: The human FAM111B gene mutations are associated with POIKTMP, a rare multi-organ fibrosing disease. Recent studies also reported the overexpression of FAM111B in specific cancers. However, the role of FAM111B in these pathologies, particularly fibrosarcoma, remains unknown. Materials and Methods: FAM111B RNA expression in some cancer cell lines was assessed in silico and validated in vitro in these cell lines and skin fibroblasts derived from the South African family member affected by POIKTMP with the heterozygous FAM111B gene mutation: NM_198947.4: c.1861T>G (p. Tyr621Asp or Y621D) by qPCR and western blot. The cellular function of FAM111B was also studied in HT1080 using various cell-based functional assays and a simple and cost-effective PCR-RFLP method for genotyping/screening FAM111B gene mutations described. Results: Expression studies showed upregulated FAM111B mRNA and protein in the cancer cells. High FAM111B expression with robust nuclear localization occurred in HT1080. Additionally, expression data and cell-based assays indicated that FAM111B led to the upregulation of cell migration and decreased cell apoptosis and cell proliferation modulation. FAM111B Y621D mutation showed similar effects on cell migration but minimal impact on cell apoptosis. FAM111B mRNA and protein expression were markedly downregulated (p ≤ 0.05) in the patient's skin-derived fibroblasts. Lastly, the PCR-RFLP method successfully genotyped FAM111B Y621D gene mutation. Discussion: FAM111B is a cancer-associated nuclear protein: Its modulation by mutations may enhance cell migration and proliferation and decrease apoptosis, as seen in cancers and POIKTMP/fibrosis, thus representing a viable therapeutic target in these disorders. Furthermore, the PCR-RFLP method could prove a valuable tool for FAM111B mutation validation or screening in resource-constrained laboratories.

Keywords: FAM111B, POIKTMP, cancer, fibrosis, PCR-RFLP

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Authors: Ashok D. Satpute

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Ayurveda, the ancient Indian Medical system is practiced all over India and abroad, is rich in natural source of medicines, including marine products. The marine drugs which prominently used are pravala (coral), mukta (pearl), kapardika (cowry).Shukti (oyster shell), shankha (conch), agnijara (amber) etc. Except agnijara (amber) all are rich in calcium. Interestingly they are not used as supplements in calcium deficiency as done in conventional medical practice. They are used as medicines in the disease like fever, tuberculosis, bleeding disorders, eye problems, digestive complaints etc. Many scientific studies have shown their potent medicinal value. Each has its own properties and used therapeutically after subjecting them to various purificatory processes which are called shodhana in which several medicinal plants are used which also help in enhancing therapeutical activity. Then these purified marine products are subjected to marana (incineration) process and obtained in the form of Bhasma (a finest form of medicine). Agnijara, a derivative of whale is useful as aphrodisiac and prescribed in neuromuscular disorders and tetanus. The ancient scriptures written in Sanskrit language thousands of years back have rich information about all these natural marine products and their medicinal usage.

Keywords: Ayurveda, bhasma, marana, shodhana

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Authors: Sophie Mills, Constantinos Aristotelous, Leila L. Touil, Richard C. W. James

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Objectives: Historical studies of the anatomy of the spinal accessory nerve (SAN) have reported conflicting results regarding its relationship with the internal jugular vein (IJV). A literature review was undertaken to establish the prevalence of anatomical variations of the SAN encountered during routine neck dissection surgery in order to increase awareness and reduce morbidity associated with iatrogenic SAN injury. Materials and Methods: The largest systematic review to date was performed using PRISMA-ScR guidelines, which yielded nine articles following the application of inclusion and exclusion criteria. A case report is also included, which demonstrates the rare anatomical relationship of the SAN traversing a fenestrated IJV, seen for the first time in the senior author’s career. Results: The mean number of dissections per study was 119, of which 55.6% (n=5) studies were performed on cadaver subjects, and 44.4% (n=4) were surgical dissections. Incidences of the SAN lateral to the IJV and medial to the IJV ranged from 38.9%-95.7% and 2.8%-57.4%, respectively. Over half of the studies reported incidences of the SAN traversing the IJV in 0.9%-2.8% of dissections. One study reported an isolated variant of the SAN dividing around the IJV with a prevalence of 0.5%. Conclusion: At the level of the posterior belly of the digastric muscle, the surgeon can anticipate the identification of the SAN lateral to the IJV in approximately three-quarters of cases, whilst around one-quarter are estimated to be medial. A mean of 1.6% of SANs traverses a fenestration of the vein. It is essential for surgeons to be aware of these anatomical variations and their prevalence to prevent injury to vital structures during surgery.

Keywords: anatomical variant, internal jugular vein, neck dissection, spinal accessory nerve

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Authors: Gabriella Dravecz, László Péter, Zsolt Kis

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Abstract— The growth of optical LiNbO3 single crystal and its physical and chemical properties are well known on the macroscopic scale. Nowadays the rare-earth doped single crystals became important for coherent quantum optical experiments: electromagnetically induced transparency, slow down of light pulses, coherent quantum memory. The expansion of applications is increasingly requiring the production of nano scaled LiNbO3 particles. For example, rare-earth doped nanoscaled particles of lithium niobate can be act like single photon source which can be the bases of a coding system of the quantum computer providing complete inaccessibility to strangers. The polyol method is a chemical synthesis where oxide formation occurs instead of hydroxide because of the high temperature. Moreover the polyol medium limits the growth and agglomeration of the grains producing particles with the diameter of 30-200 nm. In this work nano scaled LiNbO3 was prepared by the polyol method. The starting materials (niobium oxalate and LiOH) were diluted in H2O2. Then it was suspended in ethylene glycol and heated up to about the boiling point of the mixture with intensive stirring. After the thermal equilibrium was reached, the mixture was kept in this temperature for 4 hours. The suspension was cooled overnight. The mixture was centrifuged and the particles were filtered. Dynamic Light Scattering (DLS) measurement was carried out and the size of the particles were found to be 80-100 nms. This was confirmed by Scanning Electron Microscope (SEM) investigations. The element analysis of SEM showed large amount of Nb in the sample. The production of LiNbO3 nano particles were succesful by the polyol method. The agglomeration of the particles were avoided and the size of 80-100nm could be reached.

Keywords: lithium-niobate, nanoparticles, polyol, SEM

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Authors: Wiqar Hussain Shah

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The Structural, magnetic and transport behavior of La1-xCaxMnO3+ (x=0.48, 0.50, 0.52 and 0.55 and =0.015) compositions close to charge ordering, was studied through XRD, resistivity, DC magnetization and AC susceptibility measurements. With time and thermal cycling (T<300 K) there is an irreversible transformation of the low-temperature phase from a partially ferromagnetic and metallic to one that is less ferromagnetic and highly resistive. For instance, an increase of resistivity can be observed by thermal cycling, where no effect is obtained for lower Ca concentration. The time changes in the magnetization are logarithmic in general and activation energies are consistent with those expected for electron transfer between Mn ions. The data suggest that oxygen non-stoichiometry results in mechanical strains in this two-phase system, leading to the development of irreversible metastable states, which relax towards the more stable charge-ordered and antiferromagnetic microdomains at the nano-meter size. This behavior is interpreted in terms of strains induced charge localization at the interface between FM/AFM domains in the antiferromagnetic matrix. Charge, orbital ordering and phase separation play a prominent role in the appearance of such properties, since they can be modified in a spectacular manner by external factor, making the different physical properties metastable. Here we describe two factors that deeply modify those properties, viz. the doping concentration and the thermal cycling. The metastable state is recovered by the high temperature annealing. We also measure the magnetic relaxation in the metastable state and also the revival of the metastable state (in a relaxed sample) due to high temperature (800 ) thermal treatment.

Keywords: Rare-earth maganites, nano-structural materials, doping effects on electrical, magnetic properties, competing interactions

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Authors: Nicholas Pearce, Eun-jin Kim

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Pathologies of the cardiovascular (CV) system remain a serious and deadly health problem for human society. Computational modelling provides a relatively accessible tool for diagnosis, treatment, and research into CV disorders. However, numerical models of the CV system have largely focused on the function of the ventricles, frequently overlooking the behaviour of the atria. Furthermore, in the study of the pressure-volume relationship of the heart, which is a key diagnosis of cardiac vascular pathologies, previous works often evoke popular yet questionable time-varying elastance (TVE) method that imposes the pressure-volume relationship instead of calculating it consistently. Despite the convenience of the TVE method, there have been various indications of its limitations and the need for checking its validity in different scenarios. A model of the combined left ventricle (LV) and left atrium (LA) is presented, which consistently considers various feedback mechanisms in the heart without having to use the TVE method. Specifically, a synergistic model of the left ventricle is extended and modified to include the function of the LA. The synergy of the original model is preserved by modelling the electro-mechanical and chemical functions of the micro-scale myofiber for the LA and integrating it with the microscale and macro-organ-scale heart dynamics of the left ventricle and CV circulation. The atrioventricular node function is included and forms the conduction pathway for electrical signals between the atria and ventricle. The model reproduces the essential features of LA behaviour, such as the two-phase pressure-volume relationship and the classic figure of eight pressure-volume loops. Using this model, disorders in the internal cardiac electrical signalling are investigated by recreating the mechano-electric feedback (MEF), which is impossible where the time-varying elastance method is used. The effects of AV node block and slow conduction are then investigated in the presence of an atrial arrhythmia. It is found that electrical disorders and arrhythmia in the LA degrade the CV system by reducing the cardiac output, power, and heart rate.

Keywords: cardiovascular system, left atrium, numerical model, MEF

Procedia PDF Downloads 90

Authors: Tin Yee Ling, Kavita Maravar, Ruzica Ardalic

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Background: Uterine torsion (UT) in pregnancy of more than 45-degree along the longitudinal axis is a rare occurrence, and the aetiology remains unclear. Case: A 34-year-old G2P1 woman with a history of one previous caesarean section presented at 36+2 weeks with sudden onset lower abdominal pain, syncopal episode, and tender abdomen on examination. She was otherwise haemodynamically stable. Cardiotocography showed a pathological trace with initial prolonged bradycardia followed by a subsequent tachycardia with reduced variability. An initial diagnosis of uterine dehiscence was made, given the history and clinical presentation. She underwent an emergency caesarean section which revealed a 180-degree UT along the longitudinal axis, with oedematous left round ligament lying transverse anterior to the uterus and a segment of large bowel inferior to the round ligament. Detorsion of uterus was performed prior to delivery of the foetus, and anterior uterine wall was intact with no signs of rupture. There were no anatomical uterine abnormalities found other than stretched left ovarian and round ligaments, which were repaired. Delivery was otherwise uneventful, and she was discharged on day 2 postpartum. Discussion: UT is rare as the number of reported cases is within the few hundreds worldwide. Generally, the uterus is supported in place by uterine ligaments, which limit the mobility of the structure. The causes of UT are unknown, but risk factors such as uterine abnormalities, increased uterine ligaments’ flexibility in pregnancy, and foetal malposition has been identified. UT causes occlusion of uterine vessels, which can lead to ischaemic injury of the placenta causing premature separation of the placenta, preterm labour, and foetal morbidity and mortality if delivery is delayed. Diagnosing UT clinically is difficult as most women present with symptoms similar to placenta abruption or uterine rupture (abdominal pain, vaginal bleeding, shock), and one-third are asymptomatic. The management of UT involves surgical detorsion of the uterus and delivery of foetus via caesarean section. Extra vigilance should be taken to identify the anatomy of the uterus experiencing torsion prior to hysterotomy. There have been a few cases reported with hysterotomy on posterior uterine wall for delivery of foetus as it may be difficult to identify and reverse a gravid UT when foetal well-being is at stake. Conclusion: UT should be considered a differential diagnosis of acute abdominal pain in pregnancy. It is crucial that the torsion is addressed immediately as it is associated with maternal and foetal morbidity and mortality.

Keywords: uterine torsion, pregnancy complication, abdominal pain, torted uterus

Procedia PDF Downloads 134

Authors: H. B. Grobler, K. Du Plooy, P. Kruger, S. Ellis

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Objectives: The primary objective of the study was to determine the common mental disorders (CMD) identified by professional South African rugby players and its correlation with their mental toughness, as a first step towards developing such a programme within a larger research project. Design: Survey research, within the theoretical perspective of field theory, was conducted, utilising an adaptation of an already existing mental health questionnaire. The aim was to obtain feedback from as many possible professional South African rugby players in order to make certain generalizations and come to conclusions with regard to the current mental health experiences of these rugby players. Methods: Non-randomized sampling was done, linking it with internet research in the form of the online completion of a questionnaire. A sample of 215 rugby players participated and completed the online questionnaire. Permission was obtained to make use of an existing questionnaire, previously used by the specific authors with retired professional rugby players. A section on mental toughness was added. Data were descriptively analysed by means of the SPSS software platform. Results: Results indicated that the most significant problem that the players are experiencing, is a problem with alcohol (47.9%). Other problems that featured are distress (16.3%), sleep disturbances (7%), as well as anxiety and depression (4.2%). 4.7% of the players indicated that they smoke. 3.3% of the players experience themselves as not being mentally tough. A positive correlation between mental toughness and sound sleep (0.262) was found while a negative correlation was found between mental toughness and the following: anxiety/depression (-0.401), anxiety/depression positive (-0.423), distress (-0.259) and common mental disorder problems in general (-0.220). Conclusions: Although the presence of CMD at first glance do not seem significantly high amongst all the players, it must be considered that if one player in a team experiences the presence of CMD, it will have an impact on his mental toughness and most likely on his performance, as well as on the performance of the whole team. It is therefore important to ensure mental health in the whole team, by addressing individual CMD problems. A mental health support programme is therefore needed to be implemented to the benefit of these players within the South African context.

Keywords: common mental disorders, mental toughness, professional athletes, rugby players

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Authors: Jordi Cuñé, Carlos de Lecea, Laia Marti

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Small molecules known as fermentable oligo-, di-, and monosaccharides and polyols (FODMAPs) are quickly fermented in the large intestine after being poorly absorbed in the small intestine. There is proof that individuals suffering from functional gastrointestinal disorders, like irritable bowel syndrome (IBS), observe an improvement while following a diet low in FODMAPs. Because wheat has a relatively high fructan content, it is a key source of FODMAPs in our diet. A yeast-based method was created in this study to lower the amounts of FODMAP in (whole wheat) bread. In contrast to fermentation by regular baker yeast, the combination of Kluyveromyces marxianus ABB S7 with Saccharomyces cerevisiae allowed a reduction of fructan content by 60% without implying the appearance of other substrates categorized as FODMAP (excess fructose or polyols). The final FODMAP content in the developed whole wheat bread would allow its classification as a safe product for sensitive people, according to international consensus. Cocultures of S. cerevisiae and K. marxianus were established in order to ensure sufficient CO₂ generation; larger quantities of gas were produced due to the strains' synergistic relationship. Thus, this method works well for lowering the levels of FODMAPs in bread.

Keywords: Kluyveromyces marxianus, bakery, bread, FODMAP, IBS, functional gastro intestinal disorders

Procedia PDF Downloads 36

Authors: T. Qasim, M. Obeidat, S. Al-Sharairi

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The objective of this study is to investigate the effect of the excessive use of smartphones. Smartphones have enormous effects on the human body in that some musculoskeletal disorders (MSDs) and health problems might evolve. These days, there is a wide use of the smartphones among all age groups of society, thus, the focus on smartphone effects on human behavior and health, especially on the young and elderly people, becomes a crucial issue. This study was conducted in Jordan on smartphone users for different genders and ages, by conducting a survey to collect data related to the symptoms and MSDs that are resulted from the excessive use of smartphones. A total of 357 responses were used in the analysis. The main related symptoms were numbness, fingers pain, and pain in arm, all linked to age and gender for comparative reasons. A statistical analysis was performed to find the effects of extensive usage of a smartphone for long periods of time on the human body. Results show that the significant variables were the vision problems and the time spent when using the smartphone that cause vision problems. Other variables including age of user and ear problems due to the use of the headsets were found to be a border line significant.

Keywords: smart phone, age group, musculoskeletal disorders (MSDs), health problems

Procedia PDF Downloads 241

Authors: H. Hadjeris, R. B. Ghoul, Lekhlaf, M. Nebbal

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Introduction: Adenoid cystic carcinomas of the lacrimal gland or orbital cylindroma constitute the second cause of epithelial tumors of this gland. It is a malignant tumor usually developed at the expense of the salivary glands; its orbital location is exceptional. It is a rare clinical entity, formidable by its malignancy and local aggressiveness; the recurrence rate is high. Materials and methods: Clinical case: 63 years old woman who presents with irreducible no pulsatile painful left exophthalmos with inflammatory chemosis and a decrease in visual acuity with a moderate intracranial hypertension syndrome that has been evolving for 03 months. Antecedent; a biopsy of the tumor was made; the histological examination was in favor of an adenoid cystic carcinoma of the lacrimal gland. Lesion assessment: computed tomography and brain MRI: show an intra and extra-conical mass; with sinus (ethmoido-frontal) and cerebral (left frontal) extension strongly enhanced after injection of contrast product surrounded by edema around the lesion, associated with left frontal bone lysis extension assessment: unremarkable treatment: Patient operated by left frontotemporal approach, a total exenteration was performed with macroscopically complete excision of the frontal lesion and wide frontal craniectomy with craniofacial reconstruction, followed by complementary radiotherapy. Results: The patient was seen again after 3 months in consultation; she does not present any signs in favor of a recurrence. Conclusion: Adenoid cystic carcinomas of the lacrimal gland are rare malignant tumors; they are very infiltrating and invasive. The prognosis is strongly linked to the treatment time.

Keywords: adenoid cystic, lacrimal gland, orbital location, fronto-temporal approac

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