Search results for: cauda equina syndrome

Authors: Jenny Fairthorne, Yuka Mori, Helen Leonard

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Background: Primary care-givers of children with autism spectrum disorder (ASD) or intellectual disability (ID) have poorer health and quality of life (QoL) than primary care-givers (hereafter referred to as just care-givers) of typically developing children. We aimed to review original research which described factors impacting the health of care-givers of children with ASD or ID and to discuss how these factors might influence care-giver health. Methods: We searched Web of Knowledge, Medline, Scopus and Google Scholar using selections of words from each of three groups. The first comprised terms associated with ASD and ID and included autism, pervasive development disorder, intellectual disability, mental retardation, disability, disabled, Down and Asperger. The second included terms related to health such as depression, physical, mental, psychiatric, psychological and well-being. The third was terms related to care-givers such as mother, parent and care-giver. We included an original paper in our review if it was published between 1st January 1990 and 31st December, 2016, described original research in a peer-reviewed journal and was written in English. Additional criteria were that the research used a study population of 15 persons or more; described a risk or protective factor for the health of care-givers of a child with ASD, ID or a sub-type (such as ASD with ID or Down syndrome). Using previous research, we developed a simple and objective five-level tool to assess the strength of evidence provided by the reviewed papers. Results: We retained 33 papers. Factors impacting primary care-giver health included child behaviour, level of support, socio-economic status (SES) and diagnostic issues. Challenging child behaviour, the most commonly identified risk factor for poorer care-giver health and QoL was reported in ten of the studies. A higher level of support was associated with improved care-giver health and QoL. For example, substantial evidence indicated that family support reduced care-giver burden in families with a child with ASD and that family and neighbourhood support was associated with improved care-giver mental health. Higher socio-economic status (SES) was a protective factor for care-giver health and particularly maternal health. Diagnostic uncertainty and an unclear prognosis are factors which can cause the greatest concern to care-givers of children with ASD and those for whom a cause of their child’s ID has not been identified. We explain how each of these factors might impact caregiver health and how they might act differentially in care-givers of children with different types of ASD or ID (such as Down syndrome and ASD without ID). Conclusion: Care-givers of children with ASD may be more likely to experience many risk factors and less likely to experience the protective factors we identified for poorer mental health. Interventions to reduce risk factors and increase protective factors could pave the way for improved care-giver health. For example, workshops to train care-givers to better manage challenging child behaviours and earlier diagnosis of ASD (and particularly ASD without ID) would seem likely to improve care-giver well-being. Similarly, helping to expand support networks might reduce care-giver burden and stress leading to improved health.

Keywords: autism, caregivers, health, intellectual disability, mothers, review

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Authors: Moushira Zaki, Wafaa Ezzat, Yasser Elhosary, Omnia Saleh

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Nonalcoholic fatty liver disease (NAFLD) has increased in conjunction with obesity. The accuracy of risk factors for detecting NAFLD in obese adolescents has not undergone a formal evaluation. The aim of this study was to evaluate predictors of NAFLD among Egyptian female obese adolescents. The study included 162 obese female adolescents. All were subjected to anthropometry, biochemical analysis and abdominal ultrasongraphic assessment. Metabolic syndrome (MS) was diagnosed according to the IDF criteria. Significant association between presence of MS and NAFLD was observed. Obese adolescents with NAFLD had significantly higher levels of ALT, triglycerides, fasting glucose, insulin, blood pressure and HOMA-IR, whereas decreased HDL-C levels as compared with obese cases without NAFLD. Receiver–operating characteristic (ROC) curve analysis shows that ALT is a sensitive predictor for NAFLD, confirming that ALT can be used as a marker of NAFLD.

Keywords: obesity, NAFLD, predictors, adolescents, Egyptians, risk factors, prevalence

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Authors: Sergei Kosarev

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Wrong treatment tactics for hand and wrist sport-related injuries can lead to the inability to play sports in the future. It is especially important for professional athletes. The members of the Russian Olympic Team are treated in our hospital -Federal Clinical Research Center (Moscow). For their treatment, we use minimally invasive methods such as wrist arthroscopy and also orthobiologics procedures. In 2022 we had cases with scaphoid fracture and TFCC injuries. In all the cases, we were using the arthroscopy technic for treatment. The scaphoid fracture was fixed by K-wires with free bone grafting. For TFCC injures we used transossal sutures. Rehabilitation started the next day after surgery. Rehabilitation included hand therapy and physiotherapy. All athletes returned to the sport after 8-12 weeks after surgery. One of them had pain in the wrist after 12 weeks after surgery, not more than 4 point VAS. Pain syndrome was blocked after 2 PRP injections in the ulnar side of the wrist.

Keywords: sport trauma, wrist arthroscopy, wrist pain, scaphoid fracture

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Authors: Mustafa M. Donma, Orkide Donma

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Cardiovascular pathology is one of the expected consequences of excessive fat gain. The role of zinc in thyroid hormone metabolism is an important matter. The concentrations of both thyroid stimulating hormone (TSH) and zinc are subject to variation in obese individuals. Zinc exhibits protective effects on cardiovascular health and is inversely correlated with cardiovascular markers in childhood obesity. The association between subclinical hypothyroidism (SCHT) and metabolic disorders is under investigation due to its clinical importance. Underactive thyroid gland causes high TSH levels. Subclinical hypothyroidism is defined as the elevated serum TSH levels in the presence of normal free thyroxin (T4) concentrations. The aim of this study was to evaluate the associations between TSH levels and zinc concentrations in morbid obese (MO) children exhibiting SCHT. The possibility of using the probable association between these parameters was also evaluated for the discrimination of metabolic syndrome positive (MetS+) and metabolic syndrome negative (MetS-) groups. Forty-two children were present in each group. Informed consent forms were obtained. Institutional Ethics Committee approved the study protocol. Tables prepared by World Health Organization were used for the definition of MO children. Children, whose age- and sex-dependent body mass index percentile values were above 99, were defined as MO. Children with at least two MetS components were included in MOMetS+ group. Elevated systolic/diastolic blood pressure values, increased fasting blood glucose, triglycerides (TRG)/decreased high density lipoprotein-cholesterol (HDL-C) concentrations in addition to central obesity were listed as MetS components. Anthropometric measures were recorded. Routine biochemical analyses were performed. Thirteen and fifteen children had SCHT in MOMetS- and MOMetS+ groups, respectively. Statistical analyses were performed. p<0.05 was accepted as statistically significant. In MOMetS- and MOMetS+ groups, TSH levels were 4.1±2.9 mU/L and 4.6±3.1 mU/L, respectively. Corresponding values for SCHT cases in these groups were 7.3±3.1 mU/L and 8.0±2.7 mU/L. Free T4 levels were within normal limits. Zinc concentrations were negatively correlated with TSH levels in both groups. The significant negative correlation calculated in MOMetS+ group (r= -0.909; p<0.001) was much stronger than that found in MOMetS- group (r= -0.706; p<0.05). This strong correlation (r= -0.909; p<0.001) calculated for cases with SCHT in MOMetS+ group was much lower (r= -0.793; p<0.001) when all MOMetS+ cases were considered. Zinc is closely related to T4 and TSH therefore, it participates in thyroid hormone metabolism. Since thyroid hormones are required for zinc absorption, hypothyroidism can lead to zinc deficiency. The presence of strong correlations between TSH and zinc in SCHT cases found in both MOMetS- and MOMetS+ groups pointed out that MO children were under the threat of cardiovascular pathologies. The detection of the much stronger correlation in MOMetS+ group in comparison with the correlation found in MOMetS- group was the indicator of greater cardiovascular risk due to the presence of MetS. In MOMetS+ group, correlation in SCHT cases found higher than correlation calculated for all cases confirmed much higher cardiovascular risk due to the contribution of SCHT.

Keywords: cardiovascular risk, children, morbid obesity, subclinical hypothyroidism, zinc

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Authors: Ehsan Atefi, Michael Grigware

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Respiratory failure secondary to surfactant deficiency resulting from respiratory distress syndrome is considered one major cause of morbidity in preterm infants. Surfactant replacement treatment (SRT) is considered an effective treatment for this disease. Here, we introduce an AI-mediated approach for estimating the distribution of surfactant in the lung airway of a newborn infant during SRT. Our approach implements machine learning to precisely estimate the splitting ratio of a liquid drop during bifurcation at different injection velocities and patient orientations. This technique can be used to calculate the surfactant residue remaining on the airway wall during the surfactant injection process. Our model works by minimizing the pressure drop difference between the two airway branches at each generation, subject to mass and momentum conservation. Our platform can be used to generate feedback for immediately adjusting the velocity of injection and patient orientation during SRT.

Keywords: respiratory failure, surfactant deficiency, surfactant replacement, machine learning

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Authors: Neha Tiwari

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Rights are prerequisite for individuals to pursue their aims and enrich themselves. Laski has said rights are, ‘conditions of social life without which no man can seek himself at his best.’ However with superior technology, rights of many individuals are at stake as well. One such sufferer is the babies born out of the practice of commercial surrogacy. Commercial surrogacy has emerged as the most viable option for the childless couples. The practice has garnered lot of debate in both academia and media. Some argue for a complete ban and some for strict rules and regulation. Most of the time the debate is regarding the rights of the surrogate, something which we cannot ignore. Equally important are the rights of the children born out of such arrangements. However, not much attention is being paid to them. Recently, a controversy emerged when a surrogate gave birth to twins. One of the babies, Gammy born with down syndrome was left behind by the couple. Gammy could die because his poor Thai surrogate mother may not be able to pay for his treatment. Even if he survives, he will never know his twin sister as her identity would never be disclosed. This is just one of many such cases where the future of such babies is being played with. If the rights of these children are not taken care of many of them will have to bear the brunt of society's ignorance and perhaps live with a scar which won't heal in their lifetime.

Keywords: babies, commercial surrogacy, rights, technology

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Authors: Mariia A. Parfenenko, Ilya S. Dantsev, Sergei V. Bochenkov, Natalia V. Vinogradova, Olga S. Groznova, Victoria Yu. Voinova

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Introduction: Autism is the most common neurodevelopmental disorder. Autism is characterized by difficulties in social interaction and adherence to stereotypic behavioral patterns and frequently co-occurs with epilepsy, intellectual disabilities, connective tissue disorders, and other conditions. CHD8 codes for chromodomain-helicase-DNA-binding protein 8 - a chromatin remodeler that regulates cellular proliferation and neurodevelopment in embryogenesis. CHD8 is one of the genes most frequently involved in autism. Patients and methods: 2 unrelated male patients, P3 and P12, aged 3 and 12 years old, underwent whole genome sequencing, which determined that they both had different likely pathogenic variants, both previously undescribed in literature. Sanger sequencing later determined that P12 inherited the variant from his affected mother. Results: P3 and P12 presented with autism, a developmental delay, ataxia, sleep disorders, overgrowth, and macrocephaly, as well as other clinical features typically present in patients with causative variants in CHD8. The mother of P12 also has autistic traits, as well as ataxia, hypotonia, sleep disorders, and other symptoms. However, P3 and P12 also have different cardiac abnormalities. P3 had signs of a repolarization disorder: a flattened T wave in the III and aVF derivations and a negative T wave in the V1-V2 derivations. He also had structural valve anomalies with associated regurgitation, local contractility impairment of the left ventricular, and diastolic dysfunction of the right ventricle. Meanwhile, P12 had Wolff-Parkinson-White syndrome and underwent radiofrequency ablation at the age of 2 years. At the time of observation, P12 had mild sinus arrhythmia and an incomplete right bundle branch block, as well as arterial hypertension. Discussion: Cardiac abnormalities were not previously reported in patients with causative variants in CHD8. The underlying mechanism for the formation of those abnormalities is currently unknown. However, the two hypotheses are either a disordered interaction with CHD7 – another chromodomain remodeler known to be directly involved in the cardiophenotype of CHARGE syndrome – a rare condition characterized by coloboma, heart defects and growth abnormalities, or the disrupted functioning of CHD8 as an A-Kinase Anchoring Protein, which are known to modulate cardiac function. Conclusion: We observed 2 unrelated autistic males with likely pathogenic variants in CHD8 that presented with typical symptoms of CHD8-related neurodevelopmental disorder, as well as cardiac abnormalities. Cardiac abnormalities have, until now, been considered uncharacteristic for patients with causative variants in CHD8. Further accumulation of data, including experimental evidence of the involvement of CHD8 in heart formation, will elucidate the mechanism underlying the cardiophenotype of those patients. Acknowledgements: Molecular genetic testing of the patients was made possible by the Charity Fund for medical and social genetic aid projects «Life Genome.»

Keywords: autism spectrum disorders, chromodomain-helicase-DNA-binding protein 8, neurodevelopmental disorder, cardio phenotype

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Authors: Jason M. Hegenauer, Nicholas Fucci

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In the late 1990s, a major deinstitutionalization movement of elderly patients took place, since which, the design of long-term care facilities has not been adequately analyzed in the United States. Over the course of the last 25 years, major innovations in construction methods, technology, and medicine have been developed, drastically changing the landscape of healthcare architecture. In light of recent events, and the expected increase in elderly populations with the aging of the baby-boomer generation, it is evident that reconsideration of these facilities is essential for the proper care of aging populations. The global response has been effective in stifling this pandemic; however, widespread disease still poses an imminent threat to the human race. Having witnessed the devastation Covid-19 has reaped throughout nursing homes and long-term care facilities, it is evident that the current strategies for protecting our most vulnerable populations are not enough. Light renovation of existing facilities and previously overlooked considerations for new construction projects can drastically lower the risk at nursing homes and long-term care facilities. A reconfigured entry sequence supplements several of the features which have been long-standing essentials of the design of these facilities. This research focuses on several aspects identified as needing improvement, including indoor environment quality, security measures incorporated into healthcare architecture and design, and architectural mitigation strategies for sick building syndrome. The results of this study have been compiled as 'best practices' for the design of future healthcare construction projects focused on the health, safety, and quality of life of the residents of these facilities. These design strategies, which can easily be implemented through renovation of existing facilities and new construction projects, minimize risk of infection and spread of disease while allowing routine functions to continue with minimal impact, should the need for future lockdowns arise. Through the current lockdown procedures, which were implemented during the Covid-19 pandemic, isolation of residents has caused great unrest and worry for family members and friends as they are cut off from their loved ones. At this time, data is still being reported, leaving infection and death rates inconclusive; however, recent projections in some states list long-term care facility deaths as high as 60% of all deaths in the state. The population of these facilities consists of residents who are elderly, immunocompromised, and have underlying chronic medical conditions. According to the Centers for Disease Control, these populations are particularly susceptible to infection and serious illness. The obligation to protect our most vulnerable population cannot be overlooked, and the harsh measures recently taken as a response to the Covid-19 pandemic prove that the design strategies currently utilized for doing so are inadequate.

Keywords: building security, healthcare architecture and design, indoor environment quality, new construction, sick building syndrome, renovation

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Authors: Nanhee Cho, Eugene Han, Hanbyul Kim, Hochan Cho

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Pre-diabetes includes impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and there is a strong probability that pre-diabetes will lead to diabetes mellitus (DM). Serum fibroblast growth factor 21 (FGF-21) is known to be increased as a compensatory response to metabolic imbalance under conditions such as obesity, metabolic syndrome, and DM. This study aims to identify the relationship of serum FGF-21 with pre-diabetes, and with biomarkers of related metabolic diseases. Fifty five Korea adult patients participated in a cohort study from June 2012 to December 2015. The analysis revealed that BMI, FBS levels, and serum FGF-21 levels were significantly higher in the IFG group compared to those in the normal group. A multiple regression analysis was conduted on the correlations of serum FGF-21 levels with BMI, and FBS levels, and the result did not show statistical significance. In conclusion, our results revealed that serum FGF-21 level serve as a marker to predict IFG.

Keywords: cytokine, fibroblast growth factor 21, impaired fasting glucose, prediabetes

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Authors: Sachin Singh, Thomas Penzel, Dinesh Nandan

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Accurate identification of Sleep Apnea Hypopnea Syndrom Diagnosis is difficult problem for human expert because of variability among persons and unwanted noise. This paper proposes the diagonosis of Sleep Apnea Hypopnea Syndrome (SAHS) using airflow, ECG, Pulse and SaO2 signals. The features of each type of these signals are extracted using statistical methods and ANN learning methods. These extracted features are used to approximate the patient's Apnea Hypopnea Index(AHI) using sample signals in model. Advance signal processing is also applied to snore sound signal to locate snore event and SaO2 signal is used to support whether determined snore event is true or noise. Finally, Apnea Hypopnea Index (AHI) event is calculated as per true snore event detected. Experiment results shows that the sensitivity can reach up to 96% and specificity to 96% as AHI greater than equal to 5.

Keywords: neural network, AHI, statistical methods, autoregressive models

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Authors: Izabela P. Vatanabe, Rafaela Peron, Patricia Manzine, Marcia R. Cominetti

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Introduction: Considering the increase in life expectancy of world population, there is an emerging concern in health services to allocate better care and care to elderly, through promotion, prevention and treatment of health. It has been observed that frailty syndrome is prevalent in elderly people worldwide and this complex and heterogeneous clinical syndrome consist of the presence of physical frailty associated with cognitive dysfunction, though in absence of dementia. This can be characterized by exhaustion, unintentional weight loss, decreased walking speed, weakness and low level of physical activity, in addition, each of these symptoms may be a predictor of adverse outcomes such as hospitalization, falls, functional decline, institutionalization, and death. Cognitive frailty is a recent concept in literature, which is defined as the presence of physical frailty associated with mild cognitive impairment (MCI) however in absence of dementia. This new concept has been considered as a subtype of frailty, which along with aging process and its interaction with physical frailty, accelerates functional declines and can result in poor quality of life of the elderly. MCI represents a risk factor for Alzheimer's disease (AD) in view of high conversion rate for this disease. Comorbidities and physical frailty are frequently found in AD patients and are closely related to heterogeneity and clinical manifestations of the disease. The decreased platelets ADAM10 levels in AD patients, compared to cognitively healthy subjects, matched by sex, age and education. Objective: Based on these previous results, this study aims to evaluate whether ADAM10 platelet levels of could act as a biomarker of cognitive frailty. Methods: The study was approved by Ethics Committee of Federal University of São Carlos (UFSCar) and conducted in the municipality of São Carlos, headquarters of Federal University of São Carlos (UFSCar). Biological samples of subjects were collected, analyzed and then stored in a biorepository. ADAM10 platelet levels were analyzed by western blotting technique in subjects with MCI and compared to subjects without cognitive impairment, both with and without presence of frailty. Statistical tests of association, regression and diagnostic accuracy were performed. Results: The results have shown that ADAM10/β-actin ratio is decreased in elderly individuals with cognitive frailty compared to non-frail and cognitively healthy controls. Previous studies performed by this research group, already mentioned above, demonstrated that this reduction is still higher in AD patients. Therefore, the ADAM10/β-actin ratio appears to be a potential biomarker for cognitive frailty. The results bring important contributions to an accurate diagnosis of cognitive frailty from the perspective of ADAM10 as a biomarker for this condition, however, more experiments are being conducted, using a high number of subjects, and will help to understand the role of ADAM10 as biomarker of cognitive frailty and contribute to the implementation of tools that work in the diagnosis of cognitive frailty. Such tools can be used in public policies for the diagnosis of cognitive frailty in the elderly, resulting in a more adequate planning for health teams and better quality of life for the elderly.

Keywords: ADAM10, biomarkers, cognitive frailty, elderly

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Authors: Hasan Basri Jumin

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Fly ash sewage of pulp and paper industries when processed with suitable process and true management may possibly be used fertilizer agriculture purposes. The objective of works is to evaluate re-cycling possibility of fly ash waste to be applied as a fertilizer for agriculture use. Fly ash sewage was applied to maize with 28 g/plant could be increased significantly the average of dry weigh from dry weigh of seed increase from 6.7 g/plant into 10.3 g/plant, and net assimilation rates could be increased from 14.5 mg.m-2.day-1 into 35.4 mg.m-2 day-1. Therefore, production per hectare was reached 3.2 ton/ha. The chemical analyses of fly ash waste indicated that, there are no exceed threshold content of dangerous metals and biology effects. Mercury, arsenic, cadmium, chromium, cobalt, lead, and molybdenum contents as heavy metal are lower than the threshold of human healthy tolerance. Therefore, it has no syndrome effect to human health. This experiment indicated that fly ash sewage in lower doses until 28 g/plant could be applied as substitution fertilizer for agriculture use and it could be eliminate the environment pollution.

Keywords: fly-ash, fertilizer, maize, sludge-sewage pollutant, waste

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Authors: Negin Parsamanesh, Saman Ameri-Mahabadi, Ali Nikfar, Mojdeh Mansouri, Hossein Chiti, Gita Fatemi Abhari

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Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family. Exome sequencing was carried out along with a complete physical examination of the family. In silico methods were applied to find the alteration in the protein structure. The homozygous variant in DMD gene (NM-004006.2) was defined as c.2732-2733delTT (p.Phe911CysfsX8) in exon 21. In addition, phylogenetic conservation study of the human dystrophin protein sequence revealed that phenylalanine 911 is one of the evolutionarily conserved amino acids. In conclusion, our study indicated a new deletion in the DMD gene in the affected family. This deletion with an X-linked inheritance pattern is new in Iran. These findings could facilitate genetic counseling for this family and other patients in the future.

Keywords: duchenne muscular dystrophy, whole exome sequencing, iran, metabolic syndrome

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Authors: Mohd Asrul Affendi Bin Abdullah

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Sample size calculation is especially important for zero inflated models because a large sample size is required to detect a significant effect with this model. This paper verify how to present percentage of power approximation for categorical and then extended to zero inflated models. Wald test was chosen to determine power sample size of AIDS death rate because it is frequently used due to its approachability and its natural for several major recent contribution in sample size calculation for this test. Power calculation can be conducted when covariates are used in the modeling ‘excessing zero’ data and assist categorical covariate. Analysis of AIDS death rate study is used for this paper. Aims of this study to determine the power of sample size (N = 945) categorical death rate based on parameter estimate in the simulation of the study.

Keywords: power sample size, Wald test, standardize rate, ZINBDR

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Authors: Julia Kapr, Andrea Rossi, Haribaskar Ramachandran, Marius Pollet, Ilka Egger, Selina Dangeleit, Katharina Koch, Jean Krutmann, Ellen Fritsche

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It is widely acknowledged that animal models do not always represent human disease. Especially human brain development is difficult to model in animals due to a variety of structural and functional species-specificities. This causes significant discrepancies between predicted and apparent drug efficacies in clinical trials and their subsequent failure. Emerging alternatives based on 3D in vitro approaches, such as human brain spheres or organoids, may in the future reduce and ultimately replace animal models. Here, we present a human induced pluripotent stem cell (hiPSC)-based 3D neural in a vitro disease model for the Cockayne Syndrome B (CSB). CSB is a rare hereditary disease and is accompanied by severe neurologic defects, such as microcephaly, ataxia and intellectual disability, with currently no treatment options. Therefore, the aim of this study is to investigate the molecular and cellular defects found in neural hiPSC-derived CSB models. Understanding the underlying pathology of CSB enables the development of treatment options. The two CSB models used in this study comprise a patient-derived hiPSC line and its isogenic control as well as a CSB-deficient cell line based on a healthy hiPSC line (IMR90-4) background thereby excluding genetic background-related effects. Neurally induced and differentiated brain sphere cultures were characterized via RNA Sequencing, western blot (WB), immunocytochemistry (ICC) and multielectrode arrays (MEAs). CSB-deficiency leads to an altered gene expression of markers for autophagy, focal adhesion and neural network formation. Cell migration was significantly reduced and electrical activity was significantly increased in the disease cell lines. These data hint that the cellular pathologies is possibly underlying CSB. By induction of autophagy, the migration phenotype could be partially rescued, suggesting a crucial role of disturbed autophagy in defective neural migration of the disease lines. Altered autophagy may also lead to inefficient mitophagy. Accordingly, disease cell lines were shown to have a lower mitochondrial base activity and a higher susceptibility to mitochondrial stress induced by rotenone. Since mitochondria play an important role in neurotransmitter cycling, we suggest that defective mitochondria may lead to altered electrical activity in the disease cell lines. Failure to clear the defective mitochondria by mitophagy and thus missing initiation cues for new mitochondrial production could potentiate this problem. With our data, we aim at establishing a disease adverse outcome pathway (AOP), thereby adding to the in-depth understanding of this multi-faced disorder and subsequently contributing to alternative drug development.

Keywords: autophagy, disease modeling, in vitro, pluripotent stem cells

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Authors: Nisha Sharma, Mili Kaur, Ashutosh Halder, Seema Kaushal, Manoj Kumar, Manish Jain

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Purpose: To investigate microRNAs (miRNA) as an epigenomic etiological factor in idiopathic non-obstructive azoospermia (NOA). In order to achieve the same, an association was seen between occupational exposure to radiation, thermal, and chemical factors and idiopathic cases of non-obstructive azoospermia, and later, testicular differential miRNA expression profiling was done in exposure group NOA cases. Method: It is a prospective study in which 200 apparent idiopathic male factor infertility cases, who have been advised to undergo testicular fine needle aspiration (FNA) evaluation, are recruited. A detailed occupational history was taken to understand the possible type of exposure due to the nature and duration of work. A total of 26 patients were excluded upon XY-FISH and Yq microdeletion tests due to the presence of genetic causes of infertility, 6 hypospermatogeneis (HS), six Sertoli cell-only syndrome (SCOS), and six normospermatogeneis patients testicular FNA samples were used for RNA isolation followed by small RNA sequencing and nCounter miRNA expression analysis. Differential miRNA expression profile of HS and SCOS patients was done. A web-based tool, miRNet, was used to predict the interacting compounds or chemicals using the shortlisted miRNAs with high fold change. The major limitation encountered in this study was the insufficient quantity of testicular FNA sample used for total RNA isolation, which resulted in a low yield and RNA integrity number (RIN) value. Therefore, the number of RNA samples admissible for differential miRNA expression analysis was very small in comparison to the total number of patients recruited. Results: Differential expression analysis revealed 69 down-regulated and 40 up-regulated miRNAs in HS and 66 down-regulated and 33 up-regulated miRNAs in SCOS in comparison to normospermatogenesis controls. The miRNA interaction analysis using the miRNet tool showed that the differential expression profiles of HS and SCOS patients were associated with arsenic trioxide, bisphenol-A, calcium sulphate, lithium, and cadmium. These compounds are reproductive toxins and might be responsible for miRNA-mediated epigenetic deregulation leading to NOA. The association between occupational risk factor exposure and the non-exposure group of NOA patients was not statistically significant, with ꭓ2 (3, N= 178) = 6.70, p= 0.082. The association between individual exposure groups (radiation, thermal, and chemical) and various sub-types of NOA is also not significant, with ꭓ2 (9, N= 178) = 15.06, p= 0.089. Functional analysis of HS and SCOS patients' miRNA profiles revealed some important miR-family members in terms of male fertility. The miR-181 family plays a role in the differentiation of spermatogonia and spermatocytes, as well as the transcriptional regulation of haploid germ cells. The miR-34 family is expressed in spermatocytes and round spermatids and is involved in the regulation of SSCs differentiation. Conclusion: The reproductive toxins might adopt the miRNA-mediated mechanism of disease development in idiopathic cases of NOA. Chemical compound induced; miRNA-mediated epigenetic deregulation can give a future perspective on the etiopathogenesis of the disease.

Keywords: microRNA, non-obstructive azoospermia (NOA), occupational exposure, hypospermatogenesis (HS), Sertoli cell only syndrome (SCOS)

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Authors: Kuladip Jana

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Benzo(a)pyrene [B(a)P] is an environmental toxicant present mostly in cigarette smoke and car exhaust, is an aryl hydrocarbon receptor (AhR) ligand that exerts its toxic effects on both male and female reproductive systems. In this study, the effect of B(a)P at different doses (0.1, 0.25, 0.5, 1 and 5 mg /kg body weight) was studied on male reproductive system of rat. A significant decrease in cauda epididymal sperm count and motility along with the presence of sperm head abnormalities and altered epididymal and testicular histology were documented following B(a)P treatment. B(a)P treatment resulted apoptotic sperm cells as observed by TUNEL and Annexin V-PI assay with increased ROS, altered sperm mitochondrial membrane potential (ΔΨm) with a simultaneous decrease in the activity of antioxidant enzymes and GSH status. TUNEL positive apoptotic cells also observed in testis as well as isolated germ and Leydig cells following B(a)P exposure. Western Blot analysis revealed the activation of p38MAPK, cytosolic translocation of cytochrome-c, up-regulation of Bax and inducible nitric oxide synthase (iNOS) with cleavage of PARP and down-regulation of BCl2 in testis upon B(a)P treatment. The protein and mRNA levels of testicular key steroidogenesis regulatory proteins like StAR, cytochrome P450 IIA1 (CYPIIA1), 3β HSD, 17β HSD showed a significant decrease in a dose dependent manner while an increase in the expression of cytochrome P450 1A1 (CYP1A1), Aryl hydrocarbon Receptor (AhR), active caspase- 9 and caspase- 3 following B(a)P exposure. We conclude that exposure of benzo(a)pyrene caused testicular gamatogenic and steroidogenic disorders by induction of oxidative stress, inhibition of StAR and other steroidogenic enzymes along with activation of p38MAPK and initiated caspase-3 mediated germ and Leydig cell apoptosis.The possible protective role of naturally occurring phytochemicals against B(a)P induced testicular toxicity needs immediate consideration. Curcumin and resveratrol separately were found to protect against B(a)P induced germ cell apoptosis, and their combinatorial effect was more significant. Our present study in isolated testicular germ cell population from adult male Wistar rats, highlighted their synergistic protective effect against B(a)P induced germ cell apoptosis. Curcumin-resveratrol co-treatment decreased the expression of pro-apoptotic proteins like cleaved caspase 3,8,9, cleaved PARP, Apaf1, FasL, tBid. Curcumin-resveratrol co-treatment decreased Bax/Bcl2 ratio, mitochondria to cytosolic translocation of cytochrome c and activated the survival protein Akt. Curcumin-resveratrol decreased the expression of p53 dependent apoptotic genes like Fas, FasL, Bax, Bcl2, Apaf1.Curcumin-resveratrol co-treatment thus prevented B(a)P induced germ cell apoptosis. B(a)P induced testicular ROS generation and oxidative stress were significantly ameliorated with curcumin and resveratrol. Curcumin-resveratrol co-treatment prevented B(a)P induced nuclear translocation of AhR and CYP1A1 production. The combinatorial treatment significantly inhibited B(a)P induced ERK 1/2, p38 MAPK and JNK 1/2 activation. B(a)P treatment increased the expression of p53 and its phosphorylation (p53 ser 15). Curcumin-resveratrol co-treatment significantly decreased p53 level and its phosphorylation (p53 ser 15). The study concludes that curcumin-resveratrol synergistically modulated MAPKs and p53, prevented oxidative stress, regulated the expression of pro and anti-apoptotic proteins as well as the proteins involved in B(a)P metabolism thus protected germ cells from B(a)P induced apoptosis.

Keywords: benzo(a)pyrene, germ cell, apoptosis, oxidative stress, resveratrol, curcumin

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Authors: Farrah Putri Salmanida, Mei-Li Wu, Rika Wahyuningtyas, Wen-Bin Chung, Hso-Chi Chaung, Ko-Tung Chang

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Within the field of immunotherapy, oncolytic virotherapy (OVT) employs dual approaches that directly eliminate tumor cells while preserving healthy ones and indirectly reprogram the tumor microenvironment (TME) to elicit antitumor responses. Within the TME, tumor associated macrophages (TAMs) manifest characteristics akin to those of anti-inflammatory M2 macrophages, thus earning the designation of M2-like TAMs. In prior research, two antigens denoted as A1 (g6Ld10T) and A3 (ORF6L5), derived from a complete sequence of ORF5 with partial sequence of ORF6 in Porcine Reproductive and Respiratory Syndrome Virus Genotype 2 (PRRSV-2), demonstrated the capacity to repolarize M2-type porcine alveolar macrophages (PAMs) into M1 phenotypes. In this study, we sought for utilizing OVT strategies by introducing A1 or A3 on TAMs to endow them with the anti-tumor traits of M1 macrophages while retaining their capacity to target cancer cells. Upon exposing human THP-1-derived M2 macrophages to a cross-species test with 2 µg/ml of either A1 or A3 for 24 hours, real time PCR revealed that A3, but not A1, treated cells exhibited upregulated gene expressions of M1 markers (CCR7, IL-1ß, CCL2, Cox2, CD80). These cells reacted to virus-derived antigen, as evidenced by increased expression of pattern-recognition receptors TLR3, TLR7, and TLR9, subsequently providing feedback in the form of type I interferon responses like IFNAR1, IFN-ß, IRF3, IRF7, OAS1, Mx1, and ISG15. Through an MTT assay, only after 15 µg/ml of A3 treatment could the cell viability decrease, with a predicted IC50 of 16.96 µg/ml. Interestingly, A3 caused dose-dependent toxicity to a rat C6 glial cancer cell line even at doses as low as 2.5 µg/ml and reached its IC50 at 9.419 µg/ml. Using Annexin V/7AAD staining and PCR test, we deduced that a significant proportion of C6 cells were undergoing the early apoptosis phase predominantly through the intrinsic apoptosis cascade involving Bcl-2 family proteins. Following this stage, we conducted a test on A3’s repolarization ability, which revealed a significant rise in M1 gene expression markers, such as TNF, CD80, and IL-1ß, in M2-like TAMs generated in vitro from murine RAW264.7 macrophages grown with conditioned medium of 4T1 breast cancer cells. This was corroborated by the results of transcriptome analysis, which revealed that the primary subset among the top 10 to top 30 significantly upregulated differentially expressed genes (DEGs) dominantly consisted of M1 macrophages profiles, including Ccl3, Ccl4, Csf3, TNF, Bcl6b, Stc1, and Dusp2. Our findings unveiled the remarkable potential of the PRRSV-derived antigen A3 to repolarize macrophages while also being capable of selectively inducing apoptosis in cancerous cells. While further in vivo study is needed for A3, it holds promise as an adjuvant by its dual effects in cancer therapy modalities.

Keywords: cancer cell apoptosis, interferon responses, macrophage repolarization, recombinant protein

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Authors: Javier E. García-Gallo, Nelson J. Fonseca-Ruiz, John F. Duitama-Munoz

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Sepsis is a syndrome that occurs with physiological and biochemical abnormalities induced by severe infection and carries a high mortality and morbidity, therefore the severity of its condition must be interpreted quickly. After patient admission in an intensive care unit (ICU), it is necessary to synthesize the large volume of information that is collected from patients in a value that represents the severity of their condition. Traditional severity of illness scores seeks to be applicable to all patient populations, and usually assess in-hospital mortality. However, the use of machine learning techniques and the data of a population that shares a common characteristic could lead to the development of customized mortality prediction scores with better performance. This study presents the development of a score for the one-year mortality prediction of the patients that are admitted to an ICU with a sepsis diagnosis. 5650 ICU admissions extracted from the MIMICIII database were evaluated, divided into two groups: 70% to develop the score and 30% to validate it. Comorbidities, demographics and clinical information of the first 24 hours after the ICU admission were used to develop a mortality prediction score. LASSO (least absolute shrinkage and selection operator) and SGB (Stochastic Gradient Boosting) variable importance methodologies were used to select the set of variables that make up the developed score; each of this variables was dichotomized and a cut-off point that divides the population into two groups with different mean mortalities was found; if the patient is in the group that presents a higher mortality a one is assigned to the particular variable, otherwise a zero is assigned. These binary variables are used in a logistic regression (LR) model, and its coefficients were rounded to the nearest integer. The resulting integers are the point values that make up the score when multiplied with each binary variables and summed. The one-year mortality probability was estimated using the score as the only variable in a LR model. Predictive power of the score, was evaluated using the 1695 admissions of the validation subset obtaining an area under the receiver operating characteristic curve of 0.7528, which outperforms the results obtained with Sequential Organ Failure Assessment (SOFA), Oxford Acute Severity of Illness Score (OASIS) and Simplified Acute Physiology Score II (SAPSII) scores on the same validation subset. Observed and predicted mortality rates within estimated probabilities deciles were compared graphically and found to be similar, indicating that the risk estimate obtained with the score is close to the observed mortality, it is also observed that the number of events (deaths) is indeed increasing as the outcome go from the decile with the lowest probabilities to the decile with the highest probabilities. Sepsis is a syndrome that carries a high mortality, 43.3% for the patients included in this study; therefore, tools that help clinicians to quickly and accurately predict a worse prognosis are needed. This work demonstrates the importance of customization of mortality prediction scores since the developed score provides better performance than traditional scoring systems.

Keywords: intensive care, logistic regression model, mortality prediction, sepsis, severity of illness, stochastic gradient boosting

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Authors: Gülseren Kırbaş Doğan, Emin Karakurt, Mushap Kuru, Hilmi Nuhoğlu

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Developmental anomalies can be caused by defects in bone tissue, cartilage tissue, or primitive mesenchymal tissue. Genetic-, environmental-, teratogenic-, faulty breeding selection–, or feeding-related anomalies can be observed either locally or systemically. This study aimed to evaluate in detail the various anomalies in six calves according to pathological and anatomical investigations. Six calves were delivered to the Department of Pathology at the Kafkas University Faculty of Veterinary Medicine between 2017 and 2019. These calves comprised one with anencephaly, one with the diencephalic syndrome, one with Schistosoma reflexum, two with anasarca, and one with nasal and calvarium openings. After necropsy, samples were taken from the organs, foreseen, and routine pathological examinations were performed. Following these procedures, the calves were brought to the anatomy laboratory and anatomically examined. As a result, various anomalies in 6 calves were evaluated according to pathological and anatomical investigations. These findings are believed to contribute to the literature.

Keywords: anatomy, anomaly, calf, pathology

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Authors: Masoumeh Hosseini

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Obesity is known to be associated with cardiovascular diseases and metabolic syndrome. This study aimed to assess the effect of a long term aerobic training program on serum ghrelin in obese men. For this purpose, twenty four sedentary adult obese men aged 30-40 years and body mass index 30-36 kg/m2 were participated in this study and divided randomly into exercise (3 months aerobic training, 3 times/weekly) or control (no training) groups. Serum ghrelin and cardiovascular risk factor (TG, TC, LDL, and HDL) were measured before and after treatment. Anthropometrical markers were measured at two occasions. Data were analyzed by independent-paired T-test. Significance was accepted at P < 0.05. Aerobic training resulted in significant decrease in serum ghrelin and TG in exercise group. All anthropometrical markers decreased significantly in exercise group but not in control subjects. Based on these data, it is concluded that weight loss by aerobic training can be affect serum ghrelin in obese subject, although some cardiovascular risk factor remained without changed.

Keywords: aerobic training, homeostasis, lipid profile, obesity

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Authors: Awa Diouf

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Since 2004, inputs specific to the agricultural sector have been exempt from VAT in Senegal. This paper measures, using the Naatal Mbay survey, the impact of this reform on agricultural productivity. The survey covers a sample of 3,122 rice, millet and maize farms for the 2016 crop year. The regressions show that tax incentives are ineffective in improving partial productivity of the land factor: the higher the share of the value of exemptions in the higher the production costs, the less productive the operation. The negative effect of the exemptions on productivity is accentuated for the most intensive agricultural area: the Senegal River Delta, and the most intensive crop: irrigated rice. This relationship could stem from a decrease in allocative efficiency: farmers have overinvested in the most accessible inputs. The loose budget constraint syndrome, therefore, explains this result: farmers who benefit more from exemptions reduce their managerial effort. The results suggest a removal of the VAT exemptions applied to finished products and agricultural inputs for a better efficiency of this tax, which typically taxes final consumption and should be neutral for the producer.

Keywords: agricultural productivity, agricultural taxation, Senegal, tax incentives

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Authors: T. C. C. Soo, S. Bhassu

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Unlike the common presence of both innate and adaptive immunity in vertebrates, crustaceans, in particular, shrimps, have been discovered to possess only innate immunity. This further emphasizes the importance of innate immunity within shrimps in pathogenic resistance. Under the study of pathogenic immune challenge, different shrimp species actually exhibit varying degrees of immune resistance towards the same pathogen. Furthermore, even within the same shrimp species, different batches of challenged shrimps can have different strengths of immune defence. Several important pathways are activated within shrimps during pathogenic infection. One of them is JAK-STAT pathway that is activated during bacterial, viral and fungal infections by which STAT(Signal Transducer and Activator of Transcription) gene is the core element of the pathway. Based on theory of Central Dogma, the genomic information is transmitted in the order of DNA, RNA and protein. This study is focused in uncovering the important evolutionary patterns present within the DNA (non-coding region) and RNA (coding region). The three shrimp species involved are Macrobrachium rosenbergii, Penaeus monodon and Litopenaeus vannamei which all possess commercial significance. The shrimp species were challenged with a famous penaeid shrimp virus called white spot syndrome virus (WSSV) which can cause serious lethality. Tissue samples were collected during time intervals of 0h, 3h, 6h, 12h, 24h, 36h and 48h. The DNA and RNA samples were then extracted using conventional kits from the hepatopancreas tissue samples. PCR technique together with designed STAT gene conserved primers were utilized for identification of the STAT coding sequences using RNA-converted cDNA samples and subsequent characterization using various bioinformatics approaches including Ramachandran plot, ProtParam and SWISS-MODEL. The varying levels of immune STAT gene activation for the three shrimp species during WSSV infection were confirmed using qRT-PCR technique. For one sample, three biological replicates with three technical replicates each were used for qRT-PCR. On the other hand, DNA samples were important for uncovering the structural variations within the genomic region of STAT gene which would greatly assist in understanding the STAT protein functional variations. The partially-overlapping primers technique was used for the genomic region sequencing. The evolutionary inferences and event predictions were then conducted through the Bayesian Inference method using all the acquired coding and non-coding sequences. This was supplemented by the construction of conventional phylogenetic trees using Maximum likelihood method. The results showed that adaptive evolution caused STAT gene sequence mutations between different shrimp species which led to evolutionary divergence event. Subsequently, the divergent sites were correlated to the differing expressions of STAT gene. Ultimately, this study assists in knowing the shrimp species innate immune variability and selection of disease resistant shrimps for breeding purpose. The deeper understanding of STAT gene evolution from the perspective of both purifying and adaptive approaches not only can provide better immunological insight among shrimp species, but also can be used as a good reference for immunological studies in humans or other model organisms.

Keywords: gene evolution, JAK-STAT pathway, immunology, STAT gene

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Authors: Kuladip Jana, Bhaswati Banerjee, Parimal C. Sen

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Benzo(a)pyrene [B(a)P] is an environmental toxicant present mostly in cigarette smoke and car exhaust, is an aryl hydrocarbon receptor (AhR) ligand that exerts its toxic effects on both male and female reproductive systems along with carcinogenesis in skin, prostate, ovary, lung and mammary glands. Our study was focused on elucidating the molecular mechanism of B(a)P induced male reproductive toxicity and its prevention with phytochemical like resveratrol. In this study, the effect of B(a)P at different doses (0.1, 0.25, 0.5, 1 and 5 mg /kg body weight) was studied on male reproductive system of Wistar rat. A significant decrease in cauda epididymal sperm count and motility along with the presence of sperm head abnormalities and altered epididymal and testicular histology were documented following B(a)P treatment. B(a)P treatment resulted apoptotic sperm cells as observed by TUNEL and Annexin V-PI assay with increased Reactive Oxygen Species (ROS), altered sperm mitochondrial membrane potential (ΔΨm) with a simultaneous decrease in the activity of antioxidant enzymes and GSH status. TUNEL positive apoptotic cells also observed in testis as well as isolated germ and Leydig cells following B(a)P exposure. Western Blot analysis revealed the activation of p38 mitogen activated protein kinase (p38MAPK), cytosolic translocation of cytochrome-c, upregulation of Bax and inducible nitric oxide synthase (iNOS) with cleavage of poly ADP ribose polymerase (PARP) and down regulation of BCl2 in testis upon B(a)P treatment. The protein and mRNA levels of testicular key steroidogenesis regulatory proteins like steroidogenic acute regulatory protein (StAR), cytochrome P450 IIA1 (CYPIIA1), 3β hydroxy steroid dehydrogenase (3β HSD), 17β hydroxy steroid dehydrogenase (17β HSD) showed a significant decrease in a dose dependent manner while an increase in the expression of cytochrome P450 1A1 (CYP1A1), Aryl hydrocarbon Receptor (AhR), active caspase- 9 and caspase- 3 following B(a)P exposure. We conclude that exposure of benzo(a)pyrene caused testicular gamatogenic and steroidogenic disorders by induction of oxidative stress, inhibition of StAR and other steroidogenic enzymes along with activation of p38MAPK and initiated caspase-3 mediated germ and Leydig cell apoptosis. Next we investigated the role of resveratrol on B(a)P induced male reproductive toxicity. Our study highlighted that resveratrol co-treatment with B(a)P maintained testicular redox potential, increased serum testosterone level and prevented steroidogenic dysfunction with enhanced expression of major testicular steroidogenic proteins (CYPIIA1, StAR, 3β HSD,17β HSD) relative to treatment with B(a)P only. Resveratrol suppressed B(a)P-induced testicular activation of p38 MAPK, ATF2, iNOS and ROS production; cytosolic translocation of Cytochome c and Caspase 3 activation thereby prevented oxidative stress of testis and inhibited apoptosis. Resveratrol co-treatment also decreased B(a)P-induced AhR protein level, its nuclear translocation and subsequent CYP1A1 promoter activation, thereby decreased protein and mRNA levels of testicular cytochrome P4501A1 (CYP1A1) and prevented BPDE-DNA adduct formation. Our findings cumulatively suggest that resveratrol prevents activation of B(a)P by modulating the transcriptional regulation of CYP1A1 and acting as an antioxidant thus prevents B(a)P-induced oxidative stress and testicular apoptosis.

Keywords: benzo(a)pyrene, resveratrol, testis, apoptosis, cytochrome P450 1A1 (CYP1A1), aryl hydrocarbon receptor (AhR), p38 MAPK/ATF2/iNOS

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Authors: Joanna Marie A. Paulino-Morente, Vaneza Valentina L. Penolio, Grace Sabado

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Ovarian cancer is extremely hard to diagnose in its early stages, and those afflicted at the time of diagnosis are typically asymptomatic and in the late stages of the disease, with metastasis to other organs. Ovarian cancers often occur sporadically, with only 5% associated with hereditary mutations. Mutations in the BRCA1 and BRCA2 tumor suppressor genes have been found to be responsible for the majority of hereditary ovarian cancers. One type of ovarian tumor is Malignant Mixed Mullerian Tumor (MMMT), which is a very rare and aggressive type, accounting for only 1% of all ovarian cancers. Reported is a case of a 43-year-old G3P3 (3003), who came into our institution due to a 2-month history of difficulty of breathing. Family history reveals that her eldest and younger sisters both died of ovarian malignancy, with her younger sister having a histopathology report of endometrioid ovarian carcinoma, left ovary stage IIIb. She still has 2 asymptomatic sisters. Physical examination pointed to pleural effusion of right lung, and presence of bilateral ovarian new growth, which had a Sassone score of 13. Admitting Diagnosis was G3P3 (3003), Ovarian New Growth, bilateral, Malignant; Pleural effusion secondary to malignancy. BRCA was requested to establish a hereditary mutation; however, the patient had no funds. Once the patient was stabilized, TAHBSO with surgical staging was performed. Intraoperatively, the pelvic cavity was occupied by firm, irregularly shaped ovaries, with a colorectal metastasis. Microscopic sections from both ovaries and the colorectal metastasis had pleomorphic tumor cells lined by cuboidal to columnar epithelium exhibiting glandular complexity, displaying nuclear atypia and increased nuclear-cytoplasmic ratio, which are infiltrating the stroma, consistent with the features of Malignant Mixed Mullerian Tumor, since MMMT is composed histologically of malignant epithelial and sarcomatous elements. In conclusion, discussed is the clinic-pathological feature of a patient with primary ovarian Malignant Mixed Mullerian Tumor, a rare malignancy comprising only 1% of all ovarian neoplasms. Also, by understanding the hereditary ovarian cancer syndromes and its relation to this patient, it cannot be overemphasized that a comprehensive family history is really fundamental for early diagnosis. The familial association of the disease, given that the patient has two sisters who were diagnosed with an advanced stage of ovarian cancer and succumbed to the disease at a much earlier age than what is reported in the general population, points to a possible hereditary syndrome which occurs in only 5% of ovarian neoplasms. In a low-resource setting, being in a third world country, the following will be recommended for monitoring and/or screening women who are at high risk for developing ovarian cancer, such as the remaining sisters of the patient: 1) Physical examination focusing on the breast, abdomen, and rectal area every 6 months. 2) Transvaginal sonography every 6 months. 3) Mammography annually. 4) CA125 for postmenopausal women. 5) Genetic testing for BRCA1 and BRCA2 will be reserved for those who are financially capable.

Keywords: BRCA, hereditary breast-ovarian cancer syndrome, malignant mixed mullerian tumor, ovarian cancer

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Authors: Salma M. Wakil

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Advances in the field of genetics overwhelmed detecting large number of inherited disorders at the molecular level and directed to the development of innovative technologies. These innovations have led to gene sequencing, prenatal mutation detection, pre-implantation genetic diagnosis; population based carrier screening and genome wide analyses using microarrays. Microarrays are widely used in establishing clinical and diagnostic setup for genetic anomalies at a massive level, with the advent of cytoscan molecular karyotyping as a clinical utility card for detecting chromosomal aberrations with high coverage across the entire human genome. Unlike a regular karyotype that relies on the microscopic inspection of chromosomes, molecular karyotyping with cytoscan constructs virtual chromosomes based on the copy number analysis of DNA which improves its resolution by 100-fold. We have been investigating a large number of patients with Developmental Delay and Intellectual disability with this platform for establishing micro syndrome deletions and have detected number of novel CNV’s in the Arabian population with the clinical relevance.

Keywords: microarrays, molecular karyotyping, developmental delay, genetics

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Authors: Santosh Kumar, M. Muralidhar

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The term ‘ergonomics’ is derived from two Greek words: ‘ergon’, meaning work and ‘nomoi’, meaning natural laws. Ergonomics is the study of how working conditions, machines and equipment can be arranged in order that people can work with them more efficiently. In this research communication an attempt has been made to study the effect of hand-arm vibrational exposure on the workers of a gear manufacturing plant by comparison of potential Carpal Tunnel Syndrome (CTS) symptoms and effect of different exposure levels of vibration on occurrence of CTS in actual industrial environment. Chi square test and correlation analysis have been considered for statistical analysis. From Chi square test, it has been found that the potential CTS symptoms occurrence is significantly dependent on the level of vibrational exposure. Data analysis indicates that 40.51% workers having potential CTS symptoms are exposed to vibration. Correlation analysis reveals that potential CTS symptoms are significantly correlated with exposure to level of vibration from handheld tools and to repetitive wrist movements.

Keywords: CTS symptoms, hand-arm vibration, ergonomics, physical tests

Procedia PDF Downloads 372

Authors: Raham El-Kahlout, Hadi Yassin, Asmaa Athani, Marwan Abou Madi, Gheyath Nasrallah

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Background: Since its first isolation in September 2012, Middle East respiratory syndrome coronavirus (MERS-CoV) has diffused across 27 countries infecting more than two thousand individuals with a high case fatality rate. MERS-CoV–specific antibodies are widely found in Dromedary camel along with viral shedding of similar viruses detected in human at same region, suggesting that MERS epidemiology may be central role by camel. Interestingly, MERS-CoV has also been also reported to be asymptomatic or to cause influenza-like mild illnesses. Therefore, in a country like Qatar (bordered Saudi Arabia), where camels are widely spread, serological surveys are important to explore the role of camels in MERS-CoV transmission. However, widespread strategic serological surveillances of MERS-CoV among populations, particularly in endemic country, are infrequent. In the absence of clear epidemiological view, cross-sectional MERS antibody surveillances in human populations are of global concern. Method: We performed a comparative serological screening of 4719 healthy blood donors, 135 baseline case contacts (high risk individual), and four MERS confirmed patients (by PCR) for the presence of anti-MERS IgG. Initially, samples were screened using Euroimmune anti- MERS-CoV IgG ELISA kit, the only commercial kit available in the market and recommended by the CDC as a screening kit. To confirm ELISA test results, farther serological testing was performed for all borderline and positive samples using two assays; the anti MERS-CoV IgG and IgM Euroimmune indirect immunofluorescent test (IIFT) and pseudoviral particle neutralizing assay (PPNA). Additionally, to test cross reactivity of anti-MERS-CoV antibody with other family members of coronavirus, borderline and positive samples were tested for the presence of the of IgG antibody of the following viruses; SARS, HCoV-229E, HKU1 using the Euroimmune IIFT for SARS and HCoV-229E and ELISA for HKU1. Results: In all of 4858 screened 15 samples [10 donors (0.21%, 10/4719), 1 case contact (0.77 %, 1/130), 3 patients (75%, 3/4)] anti-MERS IgG reactive/borderline samples were seen in ELISA. However, only 7 (0.14%) of them gave positive with in IIFT and only 3 (0.06%) was confirmed by the specific anti-MERS PPNA. One of the interesting findings was, a donor, who was selected in the control group as a negative anti-MERS IgG ELISA, yield reactive for anti-MERS IgM IIFT and was confirmed with the PPNA. Further, our preliminary results showed that there was a strong cross reactivity between anti- MERS-COV IgG with both HCoV-229E or anti-HKU1 IgG, yet, no cross reactivity of SARS were found. Conclusions: Our findings suggest that MERS-CoV is not heavily circulated among the population of Qatar and this is also indicated by low number of confirmed cases (only 18) since 2012. Additionally, the presence of antibody of other pathogenic human coronavirus may cause false positive results of both ELISA and IIFT, which stress the need for more evaluation studies for the available serological assays. Conclusion: this study provides an insight about the epidemiological view for MERS-CoV in Qatar population. It also provides a performance evaluation for the available serologic tests for MERS-CoV in a view of serologic status to other human coronaviruses.

Keywords: seroprevalence, MERS-CoV, healthy individuals, Qatar

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Authors: Hema Lattupalli

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Introduction: The palate forms a partition between the oral cavity and nasal cavity. The palate is made up of two parts hard palate and soft palate. The Hard palate forms the anterior part of the palate, the soft palate forms a movable muscular fold covered by mucous membrane that is suspended from the posterior border of a hard palate. Aim and Objectives: Soft palate morphological variations have a great paucity in the literature. It’s also believed that the soft palate has no such important anatomical variations. There is a variable presentation of the soft palate morphology in the lateral cephalograms. The aim of this study is to identify the velar morphology. Materials and Methods: 100 normal subjects between the age group of 20 – 35 were taken for the study. Method: Lateral Cephalogram (radiologic study). Results: Different shapes of the soft palate were observed in the lateral cephalograms. The morphology of soft palate was classified into six types 1.Leaf like (50 cases) most common type, 2.Straight line (20 cases), 3.S shaped (4 cases) very rare, 4.Butt like (10 cases), 5. Rat tail (6 cases), 6. Hook shaped (10 cases). Conclusion: This classification helps us to understand the better diversity of the velar morphology in mid-sagittal plane. These findings help us to understand the etiology of OSAS.

Keywords: soft palate, cephalometric radiographs, morphology, cleft palate, obstructive sleep apnoea syndrome

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Authors: Nicolas Meylan, Eric Tardif

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Many studies have highlighted the links between substance use and school difficulties. However, most of these studies address only the consumption in terms of frequency without considering the different types of behavior (use, abuse, dependence). Moreover, little is known about the associations between substance use and variables such as school engagement and school burnout recently described as a positive state of mind and an exhaustion syndrome related to school, respectively. Through this study, we wish to describe and compare school-related variables in adolescents with different type of substance use. Our study focuses on 402 Swiss adolescents, aged between 14 and 19 years old. They responded collectively and anonymously to a set of scales assessing substance use and several school variables (social support, stress, burnout, engagement and school climate). First, results on frequency and severity of substance use are relatively close to those observed in other studies. Second, it also appears that certain dimensions of stress, burnout, engagement and school climate are associated with the frequency of alcohol and cannabis consumption. Finally, adolescents’ substance abusers show particularly high scores of burnout, cynicism and stress related to workload, which can be understand as self-medication behavior. Additional analyzes are underway to clarify these associations. Results are discussed in terms of implications for research and clinical practice in academic burnout.

Keywords: school burnout, school engagement, adolescence, substance use, self-medication

Procedia PDF Downloads 308