Search results for: metabolic disorders

Authors: Yung-Feng Yen, Yun-Ju Lai

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Background: Metabolic syndrome (MetS) is reversible; however, the effect of changes in MetS status on the risk of incident cancer has not been extensively studied. We aimed to investigate the effects of changes in MetS status on incident cancer risk. Methods: This prospective, longitudinal study used data from Taiwan’s MJ cohort of 157,915 adults recruited from 2002–2016 who had repeated MetS measurements 5.2 (±3.5) years apart and were followed up for the new onset of cancer over 8.2 (±4.5) years. A new diagnosis of incident cancer in study individuals was confirmed by their pathohistological reports. The participants’ MetS status included MetS-free (n=119,331), MetS-developed (n=14,272), MetS-recovered (n=7,914), and MetS-persistent (n=16,398). We used the Fine-Gray sub-distribution method, with death as the competing risk, to determine the association between MetS changes and the risk of incident cancer. Results: During the follow-up period, 7,486 individuals had new development of cancer. Compared with the MetS-free group, MetS-persistent individuals had a significantly higher risk of incident cancer (adjusted hazard ratio [aHR], 1.10; 95% confidence interval [CI], 1.03-1.18). Considering the effect of dynamic changes in MetS status on the risk of specific cancer types, MetS persistence was significantly associated with a higher risk of incident colon and rectum, kidney, pancreas, uterus, and thyroid cancer. The risk of kidney, uterus, and thyroid cancer in MetS-recovered individuals was higher than in those who remained MetS but lower than MetS-persistent individuals. Conclusions: Persistent MetS is associated with a higher risk of incident cancer, and recovery from MetS may reduce the risk. The findings of our study suggest that it is imperative for individuals with pre-existing MetS to seek treatment for this condition to reduce the cancer risk.

Keywords: metabolic syndrome change, cancer, risk factor, cohort study

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Authors: I. Caldas, T. Duarte

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Avoidant Restrictive Food Intake Disorder (ARFID) was included for the first time in DSM-5, replacing the old diagnosis of DSM-4 'Early Childhood Eating Disorder'. An ARFID is characterized by a restrictive/avoidant eating pattern that can lead to severe nutritional deficiency, weight loss, nutritional supplementation dependence, and poor psychosocial functioning. This eating pattern is associated with decreased interest in food, worries about food characteristics or the act of ingestion, and lack of concern with weight or body image. This paper aims to understand the impact of this new diagnosis in other Eating Disorders (ED) prevalence, as well as to compare their therapeutic approaches. Methodology: Literature reviewed by PubMed with the following keywords: 'ARFID', 'Prevalence', and 'Eating Disorders'. We selected articles related to this theme, written since 2016. Results: In a population of children hospitalized with ED, 5% to 14% was diagnosed with ARFID, and, as outpatient treatment, the prevalence was 22%. People diagnosed with ARFID have more prevalence of other comorbidities, especially autism spectrum, are younger, and are more often male. Regarding the treatment of ARFID, it most often required nasogastric feeding, and with less suffering associated with this procedure, compared to AN. Despite these differences, 12% of patients diagnosed with ARFID transited to AN during treatment, suggesting that the first pathology may be a risk factor for the development of AN. Conclusions: The differences identified between ARFID and the other EDs are important when analyzed as differential diagnostic hypotheses and therapeutic approaches. Further study is necessary regarding its prevalence, risk factors, and treatment.

Keywords: avoidant restrictive food intake disorder, ARFID, differential diagnoses, eating disorders, prevalence

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Authors: Yasin Ibrahim, Hisham Almohandes, Chia Hsu, Regina Baronia, Jesse Worsham, Sara Abdelgawad, Mansour Shawky, Mohammed Abdelfattah, Nesif Alhemiary

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Background: The matrix model (MM) is an evidence-based program for treating substance use disorders. Since first translated into Arabic in 2010, the MM has been gaining popularity in Arabic countries. However, there is no published data as pertains to its efficacy and feasibility in Arabic communities. Here we aimed at exploring providers’ perspectives on its feasibility and efficacy. Methods: Eight addiction treatment centers from four Arabic countries, namely Egypt, Kingdom of Saudi Arabia, the United Arab Emirates, and Iraq, were contacted via email. They were asked to fill in a 21-item questionnaire. Results: Matrix model continues to be utilized in 6 out of the 8 contacted programs. One center in Egypt has discontinued the MM as the providers felt it was not suitable for substance disorders other than stimulants, which are not common in Egypt. Baghdad University Medical Center has substituted MM with Colombo Program as there have been more training opportunities available for it. Data showed wide variability in regards to number of clients treated with the MM (from 300 to 2500). The Arabic version was utilized for training providers in 5 out of the 8 centers while the providers of the other 3 have been trained in the United States. All providers reported that MM made their job significantly easier, and seven providers believed that MM has favorably affected the relapse rate. In all of the six centers, MM is being utilized for many substance use disorders in addition to stimulant use disorders. Reported challenges included the acceptability of patients and their families, difficulty understanding some concepts, and high drop rates in some centers. Conclusion: Matrix model seems to be a valuable modality for the treatment of substance use disorders in Arabic countries. It has its own challenges and limitations that call for more culturally adapted versions.

Keywords: addiction, Arabic countries, developing countries, matrix model

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Authors: Deepa Shokeen, Bani Tamber Aeri

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Food choice is a complex process influenced by the interplay of multiple factors, including physical, socio-cultural and economic factors comprising macro or micro level food environments. While a clear understanding of the relationship between what we eat and the environmental context in which these food choices are made is still needed; it has however now been shown that food environments do play a significant role in the obesity epidemic and increasing cardio-metabolic risk factors. Evidence in other countries indicates that the food environment may strongly influence the prevalence of obesity and cardio-metabolic risk factors among young adults. Although in the Indian context, data does indicate the associations between sedentary lifestyle, stress, faulty diets but very little evidence supports the role of food environment in influencing cardio-metabolic health among employed adults. Thus, this research is required to establish how different environments affect different individuals as individuals interact with the environment on a number of levels. Methodology: The objective of the present study is to assess the effect of selected food and nutrition environments with emphasis on worksite environment and to analyse its impact on the food choices and dietary behaviour of the employees (25-45 years of age) of the organizations under study. In the proposed study an attempt will be made to randomly select various worksite environments from Delhi and NCR. The study will be conducted in two phases. In phase I, Information will be obtained on their socio-demographic profile and various factors influencing their food choices including most commonly consumed foods and most frequently visited eating outlets in and around the work place. Data will also be gathered on anthropometry (height, weight, waist circumference), biochemical parameters (lipid profile and fasting glucose), blood pressure and dietary intake. Based on the findings of phase I, a list of the most frequently visited eating outlets in and around the workplace will be prepared in Phase II. These outlets will then be subjected to nutrition environment assessment survey (NEMS). On the basis of the information gathered from phase I and phase II, influence of selected food and nutrition environments on food choice, dietary behaviour and prevalence of cardio-metabolic risk factors among employed adults will be assessed. Expected outcomes: The proposed study will try to ascertain the impact of selected food and nutrition environments on food choice and dietary intake of the working adults as it is important to learn how these food environments influence the eating perceptions and health behavior of the adults. In addition to this, anthropometry blood pressure and biochemical assessment of the subjects will be done to assess the prevalence of cardio-metabolic risk factors. If the findings indicate that the work environment, where most of these young adults spend their productive hours of the day, influence their health, than perhaps steps maybe needed to make these environments more conducive to health.

Keywords: food and nutrition environment, cardio-metabolic risk factors, India, worksite environment

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Authors: Carolyn B. Mires, David L. Lee, David B. McNaughton

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High school students’ with emotional and behavioral disorders (EBD) are one of the most underserved populations in today's schools. Using a multiple case study methodology, interviews were conducted to examine current practices and perceptions of the communication practices of teachers working with high school students with EBD. These interviews involved questions about general communication instances which occurred each week, communication strategies used each week, and how progress was being made on forming relationships with parents. Results confirm previous researchers’ hypotheses regarding methods, purposes, and regularity of positive communication incidences. Communication that met the positive goals of nurturing and maintaining relationships was open and frequent, reciprocal, and informal. Limitations are discussed as well as issues of trustworthiness. The case study concludes with a discussion and suggestions for high school special educators of students with EBD.

Keywords: emotional behavioral disorders, high school adolescence, home-school communication, relationships between parents and schools

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Authors: Nigatu Tadesse, Li Juan, Liuhong Ming

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Gastric cancer (GC) is the fifth most common and fourth deadly cancer in the world with limited treatment options at late advanced stage in which surgical therapy is not recommended with chemotherapy remain as the mainstay of treatment. However, the occurrence of chemoresistance as well as intera-tumoral and inter-tumoral heterogeneity of response to targeted and immunotherapy underlined a clear unmet treatment need in gastroenterology. Several molecular and cellular alterations ascribed for chemo resistance in GC including cancer stem cells (CSC) and tumor microenvironment (TME) remodeling. Cancer cells including CSC bears higher metabolic demand and major changes in TME involves alterations of gut microbiota interacting with nutrients metabolism. Metabolic upregulation in lipids, carbohydrates, amino acids, fatty acids biosynthesis pathways identified as a common hall mark in GC. Metabolic addiction to methionine metabolism occurs in many cancer cells to promote the biosynthesis of S-Adenosylmethionine (SAM), a universal methyl donor molecule for high rate of transmethylation in GC and promote cell proliferation. Targeting methionine metabolism found to promotes chemo-sensitivity with treatment non-heterogeneity. Methionine restriction (MR) promoted the arrest of cell cycle at S/G2 phase and enhanced downregulation of GC cells resistance to apoptosis (including ferroptosis), which suggests the potential of synergy with chemotherapies acting at S-phase of the cell cycle as well as inducing cell apoptosis. Accumulated evidences showed both the biogenesis as well as intracellular metabolism of exogenous methionine could be safe and effective target for therapy either alone or in combination with chemotherapies. This review article provides an over view of the upregulation in methionine biosynthesis pathway and the molecular signaling through the PI3K/Akt/mTOR-c-MYC axis to promote metabolic reprograming through activating the expression of L-type aminoacid-1 (LAT1) transporter and overexpression of Methionine adenosyltransferase 2A(MAT2A) for intercellular metabolic conversion of exogenous methionine to SAM in GC, and the potential of targeting with novel therapeutic agents such as methioninase (METase), Methionine adenosyltransferase 2A (MAT2A), c-MYC, methyl like transferase 16 (METTL16) inhibitors that are currently under clinical trial development stages and future perspectives.

Keywords: gastric cancer, methionine metabolism, pi3k/akt/mtorc1-c-myc axis, gut microbiota, MAT2A, c-MYC, METTL16, methioninase

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Authors: Joanna E. Owczarek, Izabela Zielinska

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The incidence of temporomandibular disorders is 50% up to 80%. Kinesio taping (KT) is treatment method for musculoskeletal disorders. The aim of our study was to assess the impact of KT on masseter muscles’ tone evaluated by electromyography. 30 adults (aged 22±2.1) were examined. The tone of masseters before and after 4 days KT application on sternocleidomastoideus muscle was measured during resting mandibular position and clenching. Noraxon DTS device was used. Masseter muscles’ tone during clenching after KT application was relevently lower in comparison to its tone before the KT.

Keywords: electromyography, kinesio taping, masseter muscle, TMD

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Authors: Esra Orum Cattik

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This study evaluated the effects of using video modeling procedures on the iPad to teach play skills to children with autism spectrum disorders. A male student with autism spectrum disorders participated in this study. A multiple baseline-across-skills single-subject design was used to evaluate the effects of using video modeling procedures on the iPad. During baseline, no prompts were presented to participants. In the intervention phase, the teacher gave video model on iPad to the first skill and asked play with toys for him. When the first play skill completed the second play skill began intervention. This procedure continued till all three play skill completed intervention. Finally, the participant learned all three play skills to use video modeling presented on the iPad. Based upon findings of this study, suggestions have been made to future researches.

Keywords: autism spectrum disorders, play, play skills, video modeling, single subject design

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Authors: Nicole Nicholson, Anne Spillane

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The purpose of this quantitative, descriptive analysis was to determine the success of a post-graduate new teacher education program, designed to teach educators the knowledge and skills necessary to use technology in the classroom, improve the ability to communicate with stakeholders, and implement EBPs and UDL principles into instruction for students with ASD (Autism Spectrum Disorders ). The success of candidates (n=20) in the program provided evidence as to how candidates were effectively able to use technology to create meaningful learning opportunities and implement EBPs for individuals with ASD. ≥90% of participants achieved the following competencies: podcast creation; technology used to share information about assistive technology; and created a resource website on ASD (including information on EBPs, local and national support groups, ASD characteristics, and the latest research on ASD). 59% of students successfully created animation. Results of the analysis indicated that the teacher education program was successful in teaching candidates desired competencies during its first year of implementation.

Keywords: autism spectrum disorders, ASD, evidence based practices, EBP, universal design for learning, UDL

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Authors: Marie Bajnarová

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The core part of the research project is represented by taking a perspective on the role of an educator in Juvenile Institutional Centres. In accordance with the research questions, the research explores impact of the environment, situations, practices, attitudes, values and also experience of the respondents. Art activities minimize risky behaviours and contribute to a healthy lifestyle. They also help children and adolescents with conduct disorders develop positive social behaviour, psychosocial skills and cope with difficult life situations.

Keywords: Juvenile Detention Centres, drawing, conduct disorders, art therapy

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Authors: M. Acin-Albiac, P. Filannino, R. Coda, Carlo G. Rizzello, M. Gobbetti, R. Di Cagno

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Demand for smart management of large amounts of agro-food by-products has become an area of major environmental and economic importance worldwide. Brewers' spent grain (BSG), the most abundant by-product generated in the beer-brewing process, represents an example of valuable raw material and source of health-promoting compounds. To the date, the valorization of BSG as a food ingredient has been limited due to poor technological and sensory properties. Tailored bioprocessing through lactic acid bacteria (LAB) fermentation is a versatile and sustainable means for the exploitation of food industry by-products. Indigestible carbohydrates (e.g., hemicelluloses and celluloses), high phenolic content, and mostly lignin make of BSG a hostile environment for microbial survival. Hence, the selection of tailored starters is required for successful fermentation. Our study investigated the metabolic strategies of Leuconostoc pseudomesenteroides and Lactobacillus plantarum strains to exploit BSG as a food ingredient. Two distinctive BSG samples from different breweries (Italian IT- and Finish FL-BSG) were microbially and chemically characterized. Growth kinetics, organic acid profiles, and the evolution of phenolic profiles during the fermentation in two BSG model media were determined. The results were further complemented with gene expression targeting genes involved in the degradation cellulose, hemicelluloses building blocks, and the metabolism of anti-nutritional factors. Overall, the results were LAB genus dependent showing distinctive metabolic capabilities. Leuc. pseudomesenteroides DSM 20193 may degrade BSG xylans while sucrose metabolism could be furtherly exploited for extracellular polymeric substances (EPS) production to enhance BSG pro-technological properties. Although L. plantarum strains may follow the same metabolic strategies during BSG fermentation, the mode of action to pursue such strategies was strain-dependent. L. plantarum PU1 showed a great preference for β-galactans compared to strain WCFS1, while the preference for arabinose occurred at different metabolic phases. Phenolic compounds profiling highlighted a novel metabolic route for lignin metabolism. These findings will allow an improvement of understanding of how lactic acid bacteria transform BSG into economically valuable food ingredients.

Keywords: brewery by-product valorization, metabolism of plant phenolics, metabolism of lactic acid bacteria, gene expression

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Authors: Ashti Morovati, Hushyar Azari, Bahram Pourghassem Gargari

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

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

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Authors: Amadou Wurry Jallow, Adama N. S. Bah, Karamo Bah, Shih-Ye Wang, Kuo-Chung Chu, Chien-Yeh Hsu

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Chronic kidney disease (CKD) is a major public health challenge with high prevalence, rising incidence, and serious adverse consequences. Developing effective risk prediction models is a cost-effective approach to predicting and preventing complications of chronic kidney disease (CKD). This study aimed to develop an accurate machine learning model that can dynamically identify individuals at risk of CKD using various kinds of diagnostic data, with or without laboratory data, at different follow-up points. Creatinine is a key component used to predict CKD. These models will enable affordable and effective screening for CKD even with incomplete patient data, such as the absence of creatinine testing. This retrospective cohort study included data on 19,429 adults provided by a private research institute and screening laboratory in Taiwan, gathered between 2001 and 2015. Univariate Cox proportional hazard regression analyses were performed to determine the variables with high prognostic values for predicting CKD. We then identified interacting variables and grouped them according to diagnostic data categories. Our models used three types of data gathered at three points in time: non-laboratory, laboratory, and metabolic indices data. Next, we used subgroups of variables within each category to train two machine learning models (Random Forest and XGBoost). Our machine learning models can dynamically discriminate individuals at risk for developing CKD. All the models performed well using all three kinds of data, with or without laboratory data. Using only non-laboratory-based data (such as age, sex, body mass index (BMI), and waist circumference), both models predict chronic kidney disease as accurately as models using laboratory and metabolic indices data. Our machine learning models have demonstrated the use of different categories of diagnostic data for CKD prediction, with or without laboratory data. The machine learning models are simple to use and flexible because they work even with incomplete data and can be applied in any clinical setting, including settings where laboratory data is difficult to obtain.

Keywords: chronic kidney disease, glomerular filtration rate, creatinine, novel metabolic indices, machine learning, risk prediction

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Authors: Madiha Ijaz, Muhammad Akram, Sima Mir

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Underground mining of coal is carried out manually in Pakistan. Exposure to ergonomic hazards (musculoskeletal disorders) are very common among the coal cutters of these mines. Cutting coal in narrow spaces poses a great threat to both upper and lower limbs of these workers. To observe the prevalence of such hazards, a thorough study was conducted on 600 workers from 30 mines (20 workers from 1 mine), located in two districts of province Punjab, Pakistan. Rapid Upper Limb Assessment sheet and Rapid Entire Body Assessment sheet were used for the study along with a standard Nordic Musculoskeleton disorder questionnaire. SPSS, 25, software was used for data analysis on upper and lower limb disorders, and regression analysis models were run for upper and lower back pain. According to the results obtained, it was found that work stages (drilling & blasting, coal cutting, timbering & supporting, etc.), wok experience and number of repetitions performed/minute were significant (with p-value 0.00,0.004 and 0.009, respectively) for discomfort in upper and lower limb. Age got p vale 0.00 for upper limb and 0.012 for lower limb disorder. The task of coal cutting was strongly associated with the pain in upper back (with odd ratios13.21, 95% confidence interval (CI)14.0-21.64)) and lower back pain (3.7, 95% confidence interval 1.3-4.2). scored on RULA and REBA sheets, every work-stage was ranked at 7-highest level of risk involved. Workers were young (mean value of age= 28.7 years) with mean BMI 28.1 kg/m2

Keywords: workplace hazards, ergonomic disorders, limb disorders, MSDs.

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Authors: Swapna N., Deepthy Ann Joy

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One of the major causes of communication disorders in pediatric population is Motor speech disorders. These disorders which affect the motor aspects of speech articulators can have an adverse effect on the communication abilities of children in their developmental period. The motor aspects are dependent on the sensory abilities of children with motor speech disorders. Hence, oral sensorimotor evaluation is an important component in the assessment of children with motor speech disorders. To our knowledge, the importance of oral motor examination has been well established, yet the sensory assessment of the oral structures has received less focus. One of the most common motor speech disorders seen in children is developmental dysarthria. The present study aimed to assess the orosensory aspects in children with developmental dysarthria (CDD). The control group consisted of 240 children in the age range of four and eight years which was divided into four subgroups (4-4.11, 5-5.11, 6-6.11 and 7-7.11 years). The experimental group consisted of 15 children who were diagnosed with developmental dysarthria secondary to cerebral palsy who belonged in the age range of four and eight years. The oro-sensory aspects such as response to touch, temperature, taste, texture, and orofacial sensitivity were evaluated and profiled. For this purpose, the authors used the ‘Oral Sensorimotor Evaluation Protocol- Children’ which was developed by the authors. The oro-sensory section of the protocol was administered and the clinical profile of oro-sensory abilities of typically developing children and CDD was obtained for each of the sensory abilities. The oro-sensory abilities of speech articulators such as lips, tongue, palate, jaw, and cheeks were assessed in detail and scored. The results indicated that experimental group had poorer scores on oro-sensory aspects such as light static touch, kinetic touch, deep pressure, vibration and double simultaneous touch. However, it was also found that the experimental group performed similar to control group on few aspects like temperature, taste, texture and orofacial sensitivity. Apart from the oro-motor abilities which has received utmost interest, the variation in the oro-sensory abilities of experimental and control group is highlighted and discussed in the present study. This emphasizes the need for assessing the oro-sensory abilities in children with developmental dysarthria in addition to oro-motor abilities.

Keywords: cerebral palsy, developmental dysarthria, orosensory assessment, touch

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Authors: Kim Eunha

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This study examined a group-based intervention for alcohol use disorders based on the principles of acceptance and commitment therapy (ACT) in patients (N=22; 63.7% female; M = 38.2 years old; 100% South Korean) in a residential alcohol addiction treatment program. Patients were randomly assigned to either ACT group (receiving the ACT intervention) or control group (receiving treatment as usual). The ACT intervention consisted of four 2-hr group sessions scheduled during two weeks. The first session focused on the negative effects of suppression and avoidance, and a rationale for defusion and acceptance using several of the well-known ACT metaphors (e.g., Two Scales Metaphor, Man in the Hole). The second session taught defusion and acceptance skills through such exercises as mindfulness, cutting a sour fruit, naming one’s thoughts, and physicalizing. The third session included another mindfulness exercise and encouraged the participants to identify their values and set up life goals. The last session included more discussion on values and life goals, especially related to family and intimacy. The effects of the interventions were assessed using intent-to-treat analyses. The ACT interventions resulted in smaller immediate gains in motivation to stay sober and reductions in depression, anxiety, and experiential avoidance. In addition, at a 2-month follow up, those who attended the ACT group reported a lower average level of alcohol consumption and higher treatment attendance compared to the control group. These preliminary findings suggest that additional treatment and testing of ACT for alcohol use disorders will be crucial.

Keywords: acceptance and commitment therapy, alcohol use disorders, defusion, values

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Authors: Karthika Durairaj, Buvaneswari G., Gowdham M., Gilles M., Velmurugan G.

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Background: Hyperglycaemia is the primary cause of metabolic illness. Recently, researchers focused on the possibility that chemical exposure could promote metabolic disease. Hyperglycaemia causes a variety of metabolic diseases dependent on its etiologic conditions. According to animal and population-based research, individual chemical exposure causes health problems through alteration of endocrine function with the influence of microbial influence. We were intrigued by the function of gut microbiota variation in high fat and chemically induced hyperglycaemia. Methodology: C57/Bl6 mice were subjected to two different treatments to generate the etiologic-based diabetes model: I – a high-fat diet with a 45 kcal diet, and II - endocrine disrupting chemicals (EDCs) cocktail. The mice were monitored periodically for changes in body weight and fasting glucose. After 120 days of the experiment, blood anthropometry, faecal metagenomics and metabolomics were performed and analyzed through statistical analysis using one-way ANOVA and student’s t-test. Results: After 120 days of exposure, we found hyperglycaemic changes in both experimental models. The treatment groups also differed in terms of plasma lipid levels, creatinine, and hepatic markers. To determine the influence on glucose metabolism, microbial profiling and metabolite levels were significantly different between groups. The gene expression studies associated with glucose metabolism vary between hosts and their treatments. Conclusion: This research will result in the identification of biomarkers and molecular targets for better diabetes control and treatment.

Keywords: hyperglycaemia, endocrine-disrupting chemicals, gut microbiota, host metabolism

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Authors: Marzena Trojanczyk, Mariusz Jaworski, Ewa Dmoch Gajzlerska

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Purpose: The purpose of this paper is to assess the relationship between the level of quality of life and willingness to take treatment in patients with eating disorders as anorexia, bulimia and compulsive bingeing. Material and methods: The subjects consisted of 99 women with eating disorders: anorexia, n = 33; bulimia, n = 35; compulsive overeating, n = 31 and 35 women in the control group. The study used an original questionnaire to assess the overall quality of life, as well as selected areas of the physical, mental, social and spiritual satisfaction. The subjects were also asked about the level of motivation for treatment, and the importance of the disease in the lives of patients. Statistical analyses were performed using the statistical program SPSS 18.0. Results: Women with eating disorders in particular groups did not differ with respect to each other in the aspect of overall quality of life, satisfaction with the development of the spiritual, social functioning and mental health. The severity level of the disease in the lives of patients showed a negative correlation with social functioning in women with anorexia nervosa. In the case of patients with compulsive bingeing a positive relationship between the level of importance of the disease and the satisfaction of spiritual development is reported. Conclusions: Concerning the inferior quality of life, there is no relationship between a willingness to take treatment and the importance of the disease in the lives of patients with anorexia, bulimia and compulsive bingeing.

Keywords: anorexia, bulimia, compulsive overeating, quality of life

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Authors: Katri K. Cornelissen, Lise Gulli Brokjob, Kristofor McCarty, Jiri Gumancik, Martin J. Tovee, Piers L. Cornelissen

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Recent research has shown that body size estimation of healthy women is driven by independent attitudinal and perceptual components. The attitudinal component represents psychological concerns about body, coupled to low self-esteem and a tendency towards depressive symptomatology, leading to over-estimation of body size, independent of the Body Mass Index (BMI) someone actually has. The perceptual component is a normal bias known as contraction bias, which, for bodies is dependent on actual BMI. Women with a BMI less than the population norm tend to overestimate their size, while women with a BMI greater than the population norm tend to underestimate their size. Women whose BMI is close to the population mean are most accurate. This is indexed by a regression of estimated BMI on actual BMI with a slope less than one. It is well established that body dissatisfaction, i.e. an attitudinal distortion, leads to body size overestimation in eating disordered individuals. However, debate persists as to whether women with eating disorders may also suffer a perceptual body distortion. Therefore, the current study was set to ask whether women with eating disorders exhibit the normal contraction bias when they estimate their own body size. If they do not, this would suggest differences in the way that women with eating disorders process the perceptual aspects of body shape and size in comparison to healthy controls. 100 healthy controls and 33 women with a history of eating disorders were recruited. Critically, it was ensured that both groups of participants represented comparable and adequate ranges of actual BMI (e.g. ~18 to ~40). Of those with eating disorders, 19 had a history of anorexia nervosa, 6 bulimia nervosa, and 8 OSFED. 87.5% of the women with a history of eating disorders self-reported that they were either recovered or recovering, and 89.7% of them self-reported that they had had one or more instances of relapse. The mean time lapsed since first diagnosis was 5 years and on average participants had experienced two relapses. Participants were asked to fill number of psychometric measures (EDE-Q, BSQ, RSE, BDI) to establish the attitudinal component of their body image as well as their tendency to internalize socio-cultural body ideals. Additionally, participants completed a method of adjustment psychophysical task, using photorealistic avatars calibrated for BMI, in order to provide an estimate of their own body size and shape. The data from the healthy controls replicate previous findings, revealing independent contributions to body size estimation from both attitudinal and perceptual (i.e. contraction bias) body image components, as described above. For the eating disorder group, once the adequacy of their actual BMI ranges was established, a regression of estimated BMI on actual BMI had a slope greater than 1, significantly different to that from controls. This suggests that (some) eating disordered individuals process the perceptual aspects of body image differently from healthy controls. It therefore is necessary to develop interventions which are specific to the perceptual processing of body shape and size for the management of (some) individuals with eating disorders.

Keywords: body image distortion, perception, recovery, relapse, BMI, eating disorders

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Authors: S. Behnam Asl, H. Sadeghi Naeini, L. Sadat Ensaniat, R. Khorshidian, S. Alipour, S. Behnam Asl

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Nowadays, the construction industry is growing, especially among developing countries. Iran also has a critical role in these industries in terms of workers disorders. Work-related musculoskeletal disorders (WMSDs) account for 7% of the whole diseases in the society, which makes some limitations. One of the main factors which causes WMSDs is awkward posture. Steel bar bending is considered as one of the prominent performance among construction workers. In this case study, we aimed to find the major tasks of bar benders and the most important risk factors related to it. This study was carried out among twenty workers (18-45 years) as our volunteer samples in some construction sites with less than 6 floors in two regions of Tehran municipality. The data was gathered through in depth observation, interview and questionnaire. Also postural analysis was done by OWAS method. In another part of study we used NMQ for gathering some data about psychosocial effects of work related disorders. Our findings show that 64% of workers were not aware of work risks, about 59% of workers had troubles in their wrists, hands, especially workers who worked in steel bar bending. In 46% cases lower back pain was in prevalence. Considering gathered data and results, awkward postures and long term tasks and their duration are known as the main risk factors of WMSDs among construction workers, meaning that work-rest schedule and tools design should be reconsidered to make an ergonomic condition for the mentioned workers.

Keywords: bar benders, construction workers, musculoskeletal disorders (WMSDs), OWAS method

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Authors: Juan Huang, Nanqu Huang, Jingshan Shi, Yu Qiu

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Objectives: There are pathophysiological connections between type 2 diabetes mellitus (T2DM) and Alzheimer's disease (AD), and research on drugs with hypoglycemic and beta-amyloid (Aβ)-clearing effects have great therapeutic potential for AD. Dendrobium nobile Lindl. Alkaloids (DNLA) as one of the active compounds of Dendrobium nobile Lindl. In this study, we attempted to verify the hypoglycemic effect and investigate the effects of DNLA on the amyloid precursor protein (APP) metabolic pathway of the hippocampus in db/db mice. Methods: 4-weeks-old male C57BL/KsJ mice were the control group. And the same age and sexuality db/db mice were: model, DNLA-L (20 mg/kg), DNLA-M (40 mg/kg), and DNLA-H (80 mg/kg). After, mice were treated with different concentrations of DNLA for 17 weeks. The fasting blood glucose (FBG) was detected by glucose oxidase assay every week from the 4th to last week. The protein expression of β-amyloid 1-42 (Aβ1-42), β-site amyloid precursor protein-cleaving enzyme 1 (BACE1), and APP were examined by Western blotting. Results: The concentration of FBG and the protein expression of Aβ1-42, BACE1, and APP were increased in the hippocampus of the model group. Moreover, DNLA not only significantly decreased the concentration of FBG but also reduced the protein expressions of Aβ1-42, BACE1 and APP in the hippocampus of db/db mice in a dose-dependent manner. Conclusions: DNLA can decrease the protein expressions of Aβ1-42 in the hippocampus of db/db mice, and the mechanism may be involved in the APP metabolic pathway.

Keywords: Alzheimer's disease, type 2 diabetes mellitus, β-site amyloid precursor protein-cleaving enzyme 1, traditional Chinese medicines, beta-amyloid

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Authors: Marcin Dębowski, Marcin Zieliński, Mirosław Krzemieniewski

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This publication presents a reactor designed for methane fermentation of organic substrates. The design is based on rotating cellular cylinders connected to a biomass feeder and an ultrasonic generator. This allows for simultaneous mixing and partial disintegration of the biomass, as well as stimulating higher metabolic rates within the microorganisms. Such a design allows from 2-fold to 14-fold reduction of power usage when compared to conventional mixing systems. The sludge does not undergo mechanical deformation during the mixing process, which improves substrate biodegradation efficiency by 10-15%. Cavitation occurs near the surface of the rods, partially releasing the biomass and separating it from the destroyed microorganisms. Biogas is released further away from the cellular cylinder rods due to the effect of the ultrasonic waves, in addition to increased biochemical activity of the microorganisms and increased exchange of the nutrient medium with metabolic products, which results in biogas production increase by about 15%.

Keywords: methane fermentation, bioreactors, biomass, mixing system

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Authors: Dipanshu Sur, Ratnabali Chakravorty

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Background: Polycystic ovary syndrome (PCOS) is the most common metabolic abnormality such as changes in lipid profile, diabetes, hypertension and metabolic syndrome occurring in young women of reproductive age. Low vitamin D levels were found to be associated with the development of obesity and insulin resistance in women with PCOS. Variants on vitamin D receptor (VDR) gene have also been related to metabolic comorbidities in general population. Aim: The aim of this case-control study was to investigate whether the VDR gene polymorphisms are associated with susceptibility to PCOS. Methods: Women with PCOS and a control group, all aged 16-40 years, were enrolled. Genotyping of VDR Fok-I (rs2228570), VDR Apa-I (rs7975232) as well as GC (rs2282679), DHCR7 (rs12785878) SNPs between groups were determined by using direct sequencing. Serum 25-hydroxyvitamin D [25(OH)] levels were measured by ELISA. Results: Mean serum 25(OH)D in the PCOS and control samples were 19.08±7 and 23.27±6.03 (p=0.048) which were significantly lower in PCOS patients compared with controls. CC genotype of the VDR Apa-I SNP was same frequent in PCOS (25.6%) and controls (25.6%) (OR: 0.9995; 95%CI: 0.528 to 1.8921; p= 0.9987). The CC genotype was also significantly associated with both lower E2 (p=0.031) and Androstenedione levels (p=0.062). We observed a significant association of GC polymorphism with 25(OH)D levels. PCOS women carrying the GG genotype (in GC genes) had significantly higher risk for vitamin D deficiency than women carrying the TT genotype. Conclusions: In conclusion, data from this study indicate that vitamin D levels are lower, and vitamin D deficiency more frequent, in PCOS than in controls. The present findings suggest that the Apa-I, Fok-I polymorphism of the VDR gene is associated with PCOS and seems to modulate ovarian steroid secretion. Further studies are needed to better clarify the biological mechanisms by which the polymorphism influences PCOS risk.

Keywords: vitamin D receptor, polymorphism, vitamin D, polycystic ovary syndrome

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Authors: Anastasia Papachristou, Anastasia Ntikoudi, Vasileios Saridakis

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The safety and health care needs of refugees have become an increasingly important issue all over the world especially during last few decades. Wars are the primary reason for refugees to leave their countries. Moreover, refugees are frequently exposed to a variety of stressors such as socioeconomic disadvantages, poverty, changes in family structure and functioning, losing social support, difficulty to access education, living in very crowded places, experiencing racism and isolation. This systematic review included research studies published between 2007-2017 from the search databases Medline, Scopus, Cinahl and PubMed, with keywords 'war survivors', 'war trauma', 'psychiatric disorders', 'refugees'. In order to meet the purpose of the systematic review, further research for complementary studies was conducted into the literature references of the research articles included in this study that would meet the criteria. Overall, 14 studies were reviewed and evaluated. The majority of them demonstrated that the most common psychiatric disorders observed among war refugees are post-traumatic stress disorder (PTSD), depression, anxiety and multiple somatic complaints. Moreover, significant relationship was shown between the number of traumatic events experienced by the refugees and sociodemographic features such as gender, age and previous family history of any psychological disorder. War violence is highly traumatic, causing multiple, long-term negative outcomes such as the aforementioned psychiatric disorders. The number of the studies reviewed in this systematic review is not representative of the problem and its significance. The need for care of the survivors and their families is vital. Further research is necessary in order to clarify the role of predictive factors in the development and maintenance of post-traumatic stress and the rest psychiatric disorders following war trauma. In conclusion, it is necessary to have large multicenter studies in the future in order to be able to draw reliable conclusions about the effects of war.

Keywords: psychiatric disorders, refugees, war survivors, war trauma

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Authors: Jun Ren, Zhen-Hua Ming, He-Feng Huang, Jian-Zhong Sheng

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Adverse intrauterine stimulus during critical or sensitive periods in early life, may lead to health risk not only in later life span, but also further generations. Intrauterine hyperglycaemia, as a major feature of gestational diabetes mellitus (GDM), is a typical adverse environment for both F1 fetus and F1 gamete cells development. However, there is scare information of phenotypic difference of metabolic memory between somatic cells and germ cells exposed by intrauterine hyperglycaemia. The direct transmission effect of intrauterine hyperglycaemia per se has not been assessed either. In this study, we built a GDM mice model and selected male GDM offspring without pre-diabetic phenotype as our founders, to exclude postnatal diabetic influence on gametes, thereby investigate the direct transmission effect of intrauterine hyperglycaemia exposure on F2 offspring, and we further compared the metabolic difference of affected F1-GDM male offspring and F2 offspring. A GDM mouse model of intrauterine hyperglycemia was established by intraperitoneal injection of streptozotocin after pregnancy. Pups of GDM mother were fostered by normal control mothers. All the mice were fed with standard food. Male GDM offspring without metabolic dysfunction phenotype were crossed with normal female mice to obtain F2 offspring. Body weight, glucose tolerance test, insulin tolerance test and homeostasis model of insulin resistance (HOMA-IR) index were measured in both generations at 8 week of age. Some of F1-GDM male mice showed impaired glucose tolerance (p < 0.001), none of F1-GDM male mice showed impaired insulin sensitivity. Body weight of F1-GDM mice showed no significance with control mice. Some of F2-GDM offspring exhibited impaired glucose tolerance (p < 0.001), all the F2-GDM offspring exhibited higher HOMA-IR index (p < 0.01 of normal glucose tolerance individuals vs. control, p < 0.05 of glucose intolerance individuals vs. control). All the F2-GDM offspring exhibited higher ITT curve than control (p < 0.001 of normal glucose tolerance individuals, p < 0.05 of glucose intolerance individuals, vs. control). F2-GDM offspring had higher body weight than control mice (p < 0.001 of normal glucose tolerance individuals, p < 0.001 of glucose intolerance individuals, vs. control). While glucose intolerance is the only phenotype that F1-GDM male mice may exhibit, F2 male generation of healthy F1-GDM father showed insulin resistance, increased body weight and/or impaired glucose tolerance. These findings imply that intrauterine hyperglycaemia exposure affects germ cells and somatic cells differently, thus F1 and F2 offspring demonstrated distinct metabolic dysfunction phenotypes. And intrauterine hyperglycaemia exposure per se has a strong influence on F2 generation, independent of postnatal metabolic dysfunction exposure.

Keywords: inheritance, insulin resistance, intrauterine hyperglycaemia, offspring

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Authors: Bartłomiej K. Sołtysik, Agnieszka Guligowska, Łukasz Kroc, Małgorzata Pigłowska, Elizavetta Fife, Tomasz Kostka

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Introduction: Functional capacity is one of the basic determinants of health in older age. Functional capacity may be influenced by multiple disorders, including cardiovascular and metabolic diseases. Nevertheless, there is relatively little evidence regarding the association of functional status and cardiometabolic risk factors. Aim: The aim of this research is to check possible association between functional capacity and cardiovascular risk factor in a group of younger seniors. Materials and Methods: The study group consisted of 300 participants aged 60-65 years (50% were women). Total cholesterol (TC), triglycerides (TG), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), glucose, uric acid, body mass index (BMI), waist-to-height ratio (WHtR) and blood pressure were measured. Smoking status and physical activity level (by Seven Day Physical Activity Recall Questionnaire ) were analysed. Functional status was assessed with the Timed Up and Go (TUG) Test. The data were compared according to gender, and then separately for both sexes regarding prolonged TUG score (>7 s). The limit of significance was set at p≤0.05 for all analyses. Results: Women presented with higher serum lipids and longer TUG. Men had higher blood pressure, glucose, uric acid, the prevalence of hypertension and history of heart infarct. In women group, those with prolonged TUG displayed significantly higher obesity rate (BMI, WHTR), uric acid, hypertension and ischemic heart disease (IHD), but lower physical activity level, TC or LDL-C. Men with prolonged TUG were heavier smokers, had higher TG, lower HDL and presented with higher prevalence of diabetes and IHD. Discussion: This study shows association between functional status and risk profile of cardiometabolic disorders. In women, the relationship of lower functional status to cardiometabolic diseases may be mediated by overweight/obesity. In men, locomotor problems may be related to smoking. Higher education level may be considered as a protective factor regardless of gender.

Keywords: cardiovascular risk factors, functional capacity, TUG test, seniors

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Authors: Boshra Mozaffar, Arash Ardavani, Iskandar Idris

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Food taste and flavor affect food choice and acceptance, which are essential to maintain good health and quality of life. Reduced circulating zinc levels have been shown to adversely affect taste which can result in reduced appetite, weight loss and psychological problems, but the efficacy of Zinc supplementation to treat disorders of taste remains unclear. In this systematic review and meta-analysis, we aimed to examine the efficacy of zinc supplementation in the treatment of taste disorders. We searched four electronic bibliographical databases; Ovid MEDLINE, Ovid Embase, Ovid AMAD and PubMed. Article bibliographies were also searched, which yielded additional relevant studies. To facilitate the collection and identification of all available and relevant articles published before 7 December 2020, there were no restrictions on the publication date. We performed a systematic review and meta-analysis according to the PRISMA Statement. This review was registered at PROSPERO and given the identification number CRD42021228461. In total, we included 12 randomized controlled trials with 938 subjects. Intervention includes zinc (sulfate, gluconate, picolinate, polaprezinc and acetate); the pooled results of the meta-analysis indicate that improvements in taste disorder occurred more frequently in the intervention group compared to the control group (RR = 1.8; 95% CI:1.27 -2.57, p=0.009). The doses are equivalent to 17 mg- 86.7 mg of elemental zin for three to six months. Zinc supplementation is an effective treatment for taste disorders in patients with zinc deficiency or idiopathic taste disorders when given in high doses ranging from 68–86.7 mg/d for up to three months. However, we did not find sufficient evidence to determine the effectiveness of zinc supplementation in patients with taste disorders induced by chronic renal failure.

Keywords: taste change, taste disorder, zinc, zinc sulfate or Zn, deficiency, supplementation.

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Authors: Shashikant Iyengar, Jasmeet Kaur, Anup Singh, Arun Kumar, Ira Sahay

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Insulin resistance (IR) is a condition that occurs when cells in the body become less responsive to insulin, leading to higher levels of both insulin and glucose in the blood. This condition is linked to metabolic syndromes, including diabetes. It is crucial to address IR promptly after diagnosis to prevent long-term complications associated with high insulin and high blood glucose. This four-month case study highlights the importance of treating the underlying condition to manage diabetes effectively. Insulin is essential for regulating blood sugar levels by facilitating the uptake of glucose into cells for energy or storage. In IR individuals, cells are less efficient at taking up glucose from the blood resulting in elevated blood glucose levels. As a result of IR, beta cells produce more insulin to make up for the body's inability to use insulin effectively. This leads to high insulin levels, a condition known as hyperinsulinemia, which further impairs glucose metabolism and can contribute to various chronic diseases. In addition to regulating blood glucose, insulin has anti-catabolic effects, preventing the breakdown of molecules in the body, such as inhibiting glycogen breakdown in the liver, inhibiting gluconeogenesis, and inhibiting lipolysis. If a person is insulin-sensitive or metabolically healthy, an optimal level of insulin prevents fat cells from releasing fat and promotes the storage of glucose and fat in the body. Thus optimal insulin levels are crucial for maintaining energy balance and plays a key role in metabolic processes. During the four-month study, researchers looked at the impact of a low-carb dietary (LCD) intervention on two male individuals (A & B) who had Type-2 diabetes. Althoughvneither of these individuals were obese, they were both slightly overweight and had abdominal fat deposits. Before the trial began, important markers such as fasting blood glucose (FBG), triglycerides (TG), high-density lipoprotein (HDL) cholesterol, and Hba1c were measured. These markers are essential in defining metabolic health, their individual values and variability are integral in deciphering metabolic health. The ratio of TG to HDL is used as a surrogate marker for IR. This ratio has a high correlation with the prevalence of metabolic syndrome and with IR itself. It is a convenient measure because it can be calculated from a standard lipid profile and does not require more complex tests. In this four-month trial, an improvement in insulin sensitivity was observed through the ratio of TG/HDL, which, in turn, improves fasting blood glucose levels and HbA1c. For subject A, HbA1c dropped from 13 to 6.28, and for subject B, it dropped from 9.4 to 5.7. During the trial, neither of the subjects were taking any diabetic medications. The significant improvements in their health markers, such as better glucose control, along with an increase in energy levels, demonstrate that incorporating LCD interventions can effectively manage diabetes.

Keywords: metabolic disorder, insulin resistance, type-2 diabetes, low-carb nutrition

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Authors: Kay-Anne Haykal, Issack Biyong

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The post-traumatic stress disorder (PTSD) rises from exposure to a traumatic event and appears by a persistent experience of this event. Several psychiatric co-morbidities are associated with PTSD and include mood disorders, anxiety disorders, and substance abuse. The main objective was to compare the criteria for PTSD according to the literature to those used to diagnose a patient in a francophone hospital and to check the correspondence of these two criteria. 700 medical charts of admitted patients on the medicine or psychiatric unit at the Montfort Hospital were identified with the following diagnoses: major depressive disorder, bipolar disorder, anxiety disorder, substance abuse, and PTSD for the period of time between April 2005 and March 2006. Multiple demographic criteria were assembled. Also, for every chart analyzed, the PTSD criteria, according to the Manual of Mental Disorders (DSM) IV were found, identified, and grouped according to pre-established codes. An analysis using the receiver operating characteristic (ROC) method was elaborated for the study of data. A sample of 57 women and 50 men was studied. Age was varying between 18 and 88 years with a median age of 48. According to the PTSD criteria in the DSM IV, 12 patients should have the diagnosis of PTSD in opposition to only two identified in the medical charts. The ROC method establishes that with the combination of data from PTSD and depression, the sensitivity varies between 0,127 and 0,282, and the specificity varies between 0,889 and 0,917. Otherwise, if we examine the PTSD data alone, the sensibility jumps to 0.50, and the specificity varies between 0,781 and 0,895. This study confirms the presence of an underdiagnosed and treated PTSD that causes severe perturbations for the affected individual.

Keywords: post-traumatic stress disorder, co-morbidities, diagnosis, mental health disorders

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Authors: Pavlina Capkova, Josef Srovnal, Vera Becvarova, Marie Trkova, Zuzana Capkova, Andrea Stefekova, Vaclava Curtisova, Alena Santava, Sarka Vejvalkova, Katerina Adamova, Radek Vodicka

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ASDs are heterogeneous and complex developmental diseases with a significant genetic background. Recurrent CNVs are known to be a frequent cause of ASD. These CNVs can have, however, a variable expressivity which results in a spectrum of phenotypes from asymptomatic to ID/DD/ASD. ASD is associated with ID in ~75% individuals. Various platforms are used to detect pathogenic mutations in the genome of these patients. The performed study is focused on a determination of the frequency of pathogenic mutations in a group of ASD patients and a group of ID/DD patients using various strategies along with a comparison of their detection rate. The possible role of the origin of these mutations in aetiology of ASD was assessed. The study included 35 individuals with ASD and 68 individuals with ID/DD (64 males and 39 females in total), who underwent rigorous genetic, neurological and psychological examinations. Screening for pathogenic mutations involved karyotyping, screening for FMR1 mutations and for metabolic disorders, a targeted MLPA test with probe mixes Telomeres 3 and 5, Microdeletion 1 and 2, Autism 1, MRX and a chromosomal microarray analysis (CMA) (Illumina or Affymetrix). Chromosomal aberrations were revealed in 7 (1 in the ASD group) individuals by karyotyping. FMR1 mutations were discovered in 3 (1 in the ASD group) individuals. The detection rate of pathogenic mutations in ASD patients with a normal karyotype was 15.15% by MLPA and CMA. The frequencies of the pathogenic mutations were 25.0% by MLPA and 35.0% by CMA in ID/DD patients with a normal karyotype. CNVs inherited from asymptomatic parents were more abundant than de novo changes in ASD patients (11.43% vs. 5.71%) in contrast to the ID/DD group where de novo mutations prevailed over inherited ones (26.47% vs. 16.18%). ASD patients shared more frequently their mutations with their fathers than patients from ID/DD group (8.57% vs. 1.47%). Maternally inherited mutations predominated in the ID/DD group in comparison with the ASD group (14.7% vs. 2.86 %). CNVs of an unknown significance were found in 10 patients by CMA and in 3 patients by MLPA. Although the detection rate is the highest when using CMA, recurrent CNVs can be easily detected by MLPA. CMA proved to be more efficient in the ID/DD group where a larger spectrum of rare pathogenic CNVs was revealed. This study determined that maternally inherited highly penetrant mutations and de novo mutations more often resulted in ID/DD without ASD in patients. The paternally inherited mutations could be, however, a source of the greater variability in the genome of the ASD patients and contribute to the polygenic character of the inheritance of ASD. As the number of the subjects in the group is limited, a larger cohort is needed to confirm this conclusion. Inherited CNVs have a role in aetiology of ASD possibly in combination with additional genetic factors - the mutations elsewhere in the genome. The identification of these interactions constitutes a challenge for the future. Supported by MH CZ – DRO (FNOl, 00098892), IGA UP LF_2016_010, TACR TE02000058 and NPU LO1304.

Keywords: autistic spectrum disorders, copy number variant, chromosomal microarray, intellectual disability, karyotyping, MLPA, multiplex ligation-dependent probe amplification

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