Search results for: Lynch Syndrome

Authors: S. Mohd Afzal, R. O'Connell

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Kaposi's sarcoma (KS) is the most common HIV-related cancer, and ocular manifestations constitute at least 25% of all KS cases. However, ocular presentations often occur in the context of systemic KS, and isolated lesions are rare. We report a unique case of ocular KS masquerading as subconjunctival haemorrhage, and only developing systemic manifestations after initiation of HIV treatment. Case: A 49-year old man with previous hypertensive stroke and newly diagnosed HIV infection presented with an acutely red left eye following repeated bouts of coughing. Given the convincing history of poorly controlled hypertension and cough, a diagnosis of subconjunctival haemorrhage was made. Over the next week, his ocular lesion began to improve and he subsequently started anti-retroviral therapy. Prior to receiving anti-retroviral therapy, his CD4+ lymphocyte count was 194 cells/mm3 with HIV viral load greater than 1 million/ml. This rapidly improved to a viral load of 150 copies/ml within 2 weeks of starting treatment. However, a few days after starting HIV treatment, his ocular lesion recurred. Ophthalmic examination was otherwise normal. He also developed widespread lymphadenopathy and multiple dark lesions on his torso. Histology and virology confirmed KS, systemically triggered by Immune Reconstitution Syndrome (KS-IRIS). The patient has since undergone chemotherapy successfully. Discussion: Kaposi's sarcoma is an atypical tumour caused by human herpesvirus 8 (HHV-8), also known as Kaposi’s sarcoma-associated herpesvirus (KSHV). In immunosuppressed patients, KSHV can also cause lymphoproliferative disorders such as primary effusion lymphoma and Castleman's disease (in our patient’s case, this was excluded through histological analysis of lymph nodes). KSHV is one of the seven currently known human oncoviruses, and its pathogenesis is poorly understood. Up to 13% of patients with HIV-related KS experience worsening of the disease after starting anti-retroviral treatment, due to a sudden increase in CD4 cell counts. Histology remains the diagnostic gold standard. Current British HIV Association (BHIVA) guidelines recommend treatment using anti-retroviral drugs, with either intralesional vinblastine for local disease or systemic chemotherapy for disseminated KS. Conclusion: This case is unique as ocular KS as initial presentation is rare and our patient's diagnosis was only made after systemic lesions were triggered by immune reconstitution. KS should be considered as an important differential diagnosis for red eyes in all patients at risk of acquiring HIV infection.

Keywords: human herpesvirus 8, human immunodeficiency virus, immune reconstitution syndrome, Kaposi’s sarcoma, Kaposi’s sarcoma-associated herpesvirus

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Authors: Rajish Shil, Amal Alduhoori, Vipin Thomachan, Jamal Teir, Radhakrishnan Renganathan

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Background: Antiphospholipid antibody syndrome (APS) has a broad spectrum of thrombotic and non-thrombotic clinical manifestations. We present a case of APS presenting with seizure, stroke, and atrial mass. Case Description: A 38-year-old male presented with headache of 10 days duration and tonic-clonic seizure. The neurological examination was normal. Magnetic resonance imaging of brain showed small acute right cerebellar infarct. Magnetic resonance angiography of brain and neck showed a focal narrowing in the origin of the internal carotid artery bilaterally. Electroencephalogram was normal. He was started on aspirin, atorvastatin, and carbamazepine. Transthoracic and trans-esophageal echocardiography showed a pedunculated and lobular atrial mass, measuring 1 X 1.5 cm, which was freely mobile across mitral valve opening across the left ventricular inflow. Autoimmune screening showed positive Antiphospholipid antibodies in high titer (Cardiolipin IgG > 120 units/ml, B2 glycoprotein IgG 90 units/mL). Anti-nuclear antibody was negative. Erythrocyte sedimentation rate and C-reactive protein levels were normal. Platelet count was low (111 x 109/L). The patient underwent successful surgical removal of the mass, which looked like a thrombotic clot, and Histopathological analysis confirmed it as a fibrinous clot, with no evidence of tumor cells. The patient was started on full anticoagulation treatment and was followed up regularly in the clinic, where our patient did not have any further complications from the disease. Discussion: Our patient was diagnosed to have APS based on the features of high positive anticardiolipin antibody IgG and B2 glycoprotein IgG levels, Stroke, thrombocytopenia, and abnormal echo findings. Thrombotic vegetation can mimic an atrial myxoma on echo. Conclusion: APS can present with neurological and cardiac manifestations, and therefore a high index of suspicion is necessary for a diagnosis of the disease as it can affect both short and long term treatment plans and prognosis. Therefore, in patients presenting with neurological symptoms like seizures, weakness and radiological diagnosis of stroke in a young patient, where atrial masses could be thought to be the cause of stroke, they should be screened for any concomitant findings of thrombocytopenia and/or activated partial thromboplastin time prolongation, which should raise the suspicion of vasculitis, specifically APS to be the primary cause of the clinical presentation.

Keywords: antiphospholipid syndrome, seizures, atrial mass, stroke

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Authors: Ho-Won Jung, Donghun Lee, Hyung-Jin Kim

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Predictive analytics (data analysis) uses a subset of measurements (the features, predictor, or independent variable) to predict another measurement (the outcome, target, or dependent variable) on a single person or unit. It applies empirical methods in statistics, operations research, and machine learning to predict the future, or otherwise unknown events or outcome on a single or person or unit, based on patterns in data. Most analyses of metabolic syndrome are not predictive analytics but statistical explanatory studies that build a proposed model (theory building) and then validate metabolic syndrome predictors hypothesized (theory testing). A proposed theoretical model forms with causal hypotheses that specify how and why certain empirical phenomena occur. Predictive analytics and explanatory modeling have their own territories in analysis. However, predictive analytics can perform vital roles in explanatory studies, i.e., scientific activities such as theory building, theory testing, and relevance assessment. In the context, this study is to demonstrate how to use our predictive analytics to support theory building (i.e., hypothesis generation). For the purpose, this study utilized a big data predictive analytics platform TM based on a co-occurrence graph. The co-occurrence graph is depicted with nodes (e.g., items in a basket) and arcs (direct connections between two nodes), where items in a basket are fully connected. A cluster is a collection of fully connected items, where the specific group of items has co-occurred in several rows in a data set. Clusters can be ranked using importance metrics, such as node size (number of items), frequency, surprise (observed frequency vs. expected), among others. The size of a graph can be represented by the numbers of nodes and arcs. Since the size of a co-occurrence graph does not depend directly on the number of observations (transactions), huge amounts of transactions can be represented and processed efficiently. For a demonstration, a total of 13,254 metabolic syndrome training data is plugged into the analytics platform to generate rules (potential hypotheses). Each observation includes 31 predictors, for example, associated with sociodemographic, habits, and activities. Some are intentionally included to get predictive analytics insights on variable selection such as cancer examination, house type, and vaccination. The platform automatically generates plausible hypotheses (rules) without statistical modeling. Then the rules are validated with an external testing dataset including 4,090 observations. Results as a kind of inductive reasoning show potential hypotheses extracted as a set of association rules. Most statistical models generate just one estimated equation. On the other hand, a set of rules (many estimated equations from a statistical perspective) in this study may imply heterogeneity in a population (i.e., different subpopulations with unique features are aggregated). Next step of theory development, i.e., theory testing, statistically tests whether a proposed theoretical model is a plausible explanation of a phenomenon interested in. If hypotheses generated are tested statistically with several thousand observations, most of the variables will become significant as the p-values approach zero. Thus, theory validation needs statistical methods utilizing a part of observations such as bootstrap resampling with an appropriate sample size.

Keywords: explanatory modeling, metabolic syndrome, predictive analytics, theory building

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Authors: Junita Batubara

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Children with special needs, especially those with disability in mental, physical or social/emotional interactions, are marginalized. Many people still view them as troublesome, inconvenience, having learning difficulties, unproductive and burdensome to society. This study intends to investigate; how musical drama can develop the ability to control the coordination of mental functions; how musical dramas can assist children to work together; how musical dramas can assist to maintain the child's emotional and physical health; how musical dramas can improve children creativity. The objectives of the research are: To know whether musical drama can control the coordination of mental function of children; to know whether musical drama can improve communication ability and expression of children; to know whether musical drama can help children work with people around them; to find out if musical dramas can develop the child's emotional and physical health; to find out if musical drama can improve children's creativity. The study employed a qualitative research approach. Data was collecting by listening, observing in depth through public hearings that select the key informants who were teachers and principals, parents and children. The data obtained from each public hearing was then processed (reduced), conclusion drawing/verification, presentation of data (data display). Furthermore, the model obtained was implementing for musical performance, where the benefits of the show are: musical drama can improve language skills; musical dramas are capable of developing memory and storage of information; developing communication skills and express themselves; helping children work together; assisting emotional and physical health; enhancing creativity.

Keywords: children Down syndrome, music, drama script, performance

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Authors: Khulood Zahran

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Background and Purpose: The effects of backpack on 'school-age' children (Age 9–12) years, have been a critical subject of discussion throughout the past years. It has been one of the factors that contribute to a bad posture for 40% to 70% of developed countries. A child carrying a heavy backpack for a prolonged period, on a daily base has shown significant changes in the child's spinal posture, foot shape, and gait. The back pain caused by the compensatory posture, or "Backpack syndrome", is also known for its headaches, fatigue, cervical and lumber pain caused by the abnormal body posture. The child tends to balance himself by bending forward to match the heavy backpack, moving his Centre of Gravity forward, resulting in decreased lumber lordosis and increased thoracic kyphosis. Since currently available bags have not addressed the weight distribution issue till now. Therefore, KZ bag is believed to prevent the huge backward shift of COG due to the load, and hence all the symptoms accompanied. This is thought to be possible by combining the design of a normal backpack with a messenger bag. The purpose of this study is to investigate the improvement of the child's spine and to minimize the compensatory posture after using the KZ bag. Materials and Methods: KZ bag would compromise the pros of a messenger bag (keeping the COG in place) by a diagonal load strap and of a backpack (distributing the load on both shoulders) by connecting another load strap parallel to the sagittal plane of the body. The design would be made adjustable to match the child's height, and the bag load kept within limits, (10-15%) of the child's body weight. Measurements of Postural angles (Cervical, shoulders, and Trunk) would be taken after the use of KZ bag for a specified period. Conclusion: KZ bag will prove an improved distribution of weight of the bag on the child's body, and reduce the degree of the compensatory posture, that occurs in the attempt to balance the external weight of the bag.

Keywords: backpack, backpack syndrome, posture, spine

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Authors: Mustafa M. Donma, Orkide Donma

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The number of indices developed for the evaluation of obesity both in adults and pediatric population is ever increasing. These indices are also used in cases with metabolic syndrome (MetS), mostly the ultimate form of morbid obesity. Aside from anthropometric measurements, formulas constituted using these parameters also find clinical use. These formulas can be listed as two groups; being weight-dependent and –independent. Some are extremely sophisticated equations and their clinical utility is questionable in routine clinical practice. The aim of this study is to compare presently available obesity indices and find the most practical one. Their associations with MetS components were also investigated to determine their capacities in differential diagnosis of morbid obesity with and without MetS. Children with normal body mass index (N-BMI) and morbid obesity were recruited for this study. Three groups were constituted. Age- and sex- dependent BMI percentiles for morbid obese (MO) children were above 99 according to World Health Organization tables. Of them, those with MetS findings were evaluated as MetS group. Children, whose values were between 85 and 15 were included in N-BMI group. The study protocol was approved by the Ethics Committee of the Institution. Parents filled out informed consent forms to participate in the study. Anthropometric measurements and blood pressure values were recorded. Body mass index, hip index (HI), conicity index (CI), triponderal mass index (TPMI), body adiposity index (BAI), body shape index (ABSI), body roundness index (BRI), abdominal volume index (AVI), waist-to-hip ratio (WHR) and waist circumference+hip circumference/2 ((WC+HC)/2) were the formulas examined within the scope of this study. Routine biochemical tests including fasting blood glucose (FBG), insulin (INS), triglycerides (TRG), high density lipoprotein-cholesterol (HDL-C) were performed. Statistical package program SPSS was used for the evaluation of study data. p<0.05 was accepted as the statistical significance degree. Hip index did not differ among the groups. A statistically significant difference was noted between N-BMI and MetS groups in terms of ABSI. All the other indices were capable of making discrimination between N-BMI-MO, N-BMI- MetS and MO-MetS groups. No correlation was found between FBG and any obesity indices in any groups. The same was true for INS in N-BMI group. Insulin was correlated with BAI, TPMI, CI, BRI, AVI and (WC+HC)/2 in MO group without MetS findings. In MetS group, the only index, which was correlated with INS was (WC+HC)/2. These findings have pointed out that complicated formulas may not be required for the evaluation of the alterations among N-BMI and various obesity groups including MetS. The simple easily computable weight-independent index, (WC+HC)/2, was unique, because it was the only index, which exhibits a valuable association with INS in MetS group. It did not exhibit any correlation with other obesity indices showing associations with INS in MO group. It was concluded that (WC+HC)/2 was pretty valuable practicable index for the discrimination of MO children with and without MetS findings.

Keywords: children, insulin, metabolic syndrome, obesity indices

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Authors: Orkide Donma, Mustafa M. Donma

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Obesity, a disease associated with a low-grade inflammation, is a risk factor for the development of metabolic syndrome (MetS). So far, MetS risk factors such as parameters related to glucose and lipid metabolisms as well as blood pressure were considered for the evaluation of this disease. There are still some ambiguities related to the characteristic features of MetS observed particularly in pediatric population. Hormonal imbalance is also important, and quite a lot information exists about the behaviour of some hormones in adults. However, the hormonal profiles in pediatric metabolism have not been cleared yet. The aim of this study is to investigate the profiles of cortisol, insulin, and thyroid hormones in children with MetS. The study population was composed of morbid obese (MO) children without (Group 1) and with (Group 2) MetS components. WHO BMI-for age and sex percentiles were used for the classification of obesity. The values above 99 percentile were defined as morbid obesity. Components of MetS (central obesity, glucose intolerance, high blood pressure, high triacylglycerol levels, low levels of high density lipoprotein cholesterol) were determined. Anthropometric measurements were performed. Ratios as well as obesity indices were calculated. Insulin, cortisol, thyroid stimulating hormone (TSH), free T₃ and free T₄ analyses were performed by electrochemiluminescence immunoassay. Data were evaluated by statistical package for social sciences program. p<0.05 was accepted as the degree for statistical significance. The mean ages±SD values of Group 1 and Group 2 were 9.9±3.1 years and 10.8±3.2 years, respectively. Body mass index (BMI) values were calculated as 27.4±5.9 kg/m² and 30.6±8.1 kg/m², successively. There were no statistically significant differences between the ages and BMI values of the groups. Insulin levels were statistically significantly increased in MetS in comparison with the levels measured in MO children. There was not any difference between MO children and those with MetS in terms of cortisol, T₃, T₄ and TSH. However, T₄ levels were positively correlated with cortisol and negatively correlated with insulin. None of these correlations were observed in MO children. Cortisol levels in both MO as well as MetS group were significantly correlated. Cortisol, insulin, and thyroid hormones are essential for life. Cortisol, called the control system for hormones, orchestrates the performance of other key hormones. It seems to establish a connection between hormone imbalance and inflammation. During an inflammatory state, more cortisol is produced to fight inflammation. High cortisol levels prevent the conversion of the inactive form of the thyroid hormone T₄ into active form T₃. Insulin is reduced due to low thyroid hormone. T₃, which is essential for blood sugar control- requires cortisol levels within the normal range. Positive association of T₄ with cortisol and negative association of it with insulin are the indicators of such a delicate balance among these hormones also in children with MetS.

Keywords: children, cortisol, insulin, metabolic syndrome, thyroid hormones

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Authors: Thavasimuthu Citarasu, Mariavincent Michaelbabu, Vikram Vakharia

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The rhizome of Java grass, Cyperus rotundus was extracted different organic polar and non-polar solvents and performed the in vitro antiviral and immunostimulant activities against White Spot Syndrome Virus (WSSV) and Vibrio harveyi respectively. Based on the initial screening the ethyl acetate extract of C. rotundus was strong activities and further it was purified through silica column chromatography and the fractions were screened again for antiviral and immunostimulant activity. Among the different fractions screened against the WSSV and V. harveyi, the fractions, F-III to FV had strong activities. In order to study the in vivo influence of C. rotundus, the fractions (F-III to FV) were pooled and delivered to the F. indicus through artificial feed for 30 days. After the feeding trail the experimental and control diet fed F. indicus were challenged with virulent WSSV and studied the survival, molecular diagnosis, biochemical, haematological and immunological parameters. Surprisingly, the pooled fractions (F-III to FV) incorporated diets helped to significantly (P < 0.01) suppressed viral multiplication, showed significant (P < 0.01) differences in protein and glucose levels, improved total haemocyte count (THC), coagulase activity, significantly increased (P < =0.001) prophenol oxidase and intracellular superoxide anion production compared to the control shrimps. Based on the results, C. rotundus extracts effectively suppressed WSSV multiplication and improve the immune system in F. indicus against WSSV infection and this knowledge will helps to develop novel drugs from C. rotundus against WSSV.

Keywords: antiviral drugs, cyperus rotundus, fenneropenaeus indicus, WSSV

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Authors: Sadeq Alyaari, Muhammad Alkhunayn, Montaha Al Yaari, Ayman Al Yaari, Ayah Al Yaari, Adham Al Yaari, Sajedah Al Yaari, Fatehi Eissa

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Introduction. The purpose of this Systematic Literature Review and Meta-analysis ((SLR & Meta-analysis) was to examine the differences between Asperger syndrome (AS) individuals and typically developing and achieving individuals (TD) regarding language competence and how these differences related to AS individuals’ age and the significance such differences add to our knowledge of understanding their language performance as issues that are still underdiagnosed and ill-treated entities. Methods. The study followed SLR & Meta-analysis protocol and was armed with data of 456 AS subjects and controls (231 and 225, respectively) abstracted from 14 studies that have been collected from different electronic bibliographic databases including web of science, Scopus, EMBASE, Cochrane library, PubMed, PsycInfo and google scholar along with unpublished literature. Results. Outlined results show deterioration in language competence of AS subjects in comparison to TD controls. Such deterioration impairs conversational implicature more than it does conventional maxims of AS individuals’ pragmatic language and has no relationship with their age. Results also show that the difference in intelligence features of the mental reality in the language competence becomes smaller with increasing age and that the difference in representational content features becomes larger. Conclusions. These findings help experts in the field not only predict pragmatic language impairments in AS individuals but also enable AS individuals themselves to decode and/or interpret speech inputs; therefore, perceive the world around them and interact with their community members. Outcomes should be considered to lay out a path for further exploration of genetics, etiology, and response to treatment of all these premises that are currently unsearched in AS individuals.

Keywords: pragmatic language characteristics, language competence, mental faculty, mental reality, features, language performance, pragmatics, conventional maxims

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Authors: Tugba Sevinc Gamsiz, Emine Koroglu, Ozcan Keskin

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Aim: Nonalcoholic fatty liver disease (NAFLD) is considered the most common chronic liver disease in the general population. The higher mortality and morbidity among NAFLD patients and lack of symptoms makes early detection and management important. In our study, we aimed to evaluate the relationship between noninvasive imaging and biochemical markers in diabetic and nondiabetic patients diagnosed with NAFLD. Materials and Methods: The study was conducted from (September 2017) to (December 2017) on adults admitted to Internal Medicine and Gastroenterology outpatient clinics with hepatic steatosis reported on ultrasound or transient elastography within the last six months that exclude patients with other liver diseases or alcohol abuse. The data were collected and analyzed retrospectively. Number cruncher statistical system (NCSS) 2007 program was used for statistical analysis. Results: 116 patients were included in this study. Diabetic patients compared to nondiabetics had significantly higher Controlled Attenuation Parameter (CAP), Liver Stiffness Measurement (LSM) and fibrosis values. Also, hypertension, hepatomegaly, high BMI, hypertriglyceridemia, hyperglycemia, high A1c, and hyperuricemia were found to be risk factors for NAFLD progression to fibrosis. Advanced fibrosis (F3, F4) was present in 18,6 % of all our patients; 35,8 % of diabetic and 5,7 % of nondiabetic patients diagnosed with hepatic steatosis. Conclusion: Transient elastography is now used in daily clinical practice as an accurate noninvasive tool during follow-up of patients with fatty liver. Early diagnosis of the stage of liver fibrosis improves the monitoring and management of patients, especially in those with metabolic syndrome criteria.

Keywords: diabetes, elastography, fatty liver, fibrosis, metabolic syndrome

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Authors: Myoungsoon You, Heejung Son

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Background: In the current study, we investigated the effects of emotions induced by an infectious disease outbreak on the various protective behaviors taken during the crisis and on the perception after the crisis. The investigation was based on two psychological theories of appraisal tendency and action tendency. Methods: A total of 900 participants in South Korea who experienced the 2015 Middle East Respiratory Syndrome outbreak were sampled by a professional survey agency. To assess the influence of the emotions fear and anger, a regression approach was used. The effect of emotions on various protective behaviors and perceptions was observed using a hierarchical regression method. Results: Fear and anger induced by the infectious disease outbreak were both associated with increased protective behaviors during the crisis. However, the differences between the emotions were observed. While protective behaviors with avoidance tendency (adherence to recommendations, self-mitigation), were raised by both fear and anger, protective behaviors with approach tendency (information-seeking) were increased by anger, but not fear. Regarding the effect of emotion on the risk perception after the crisis, only fear was associated with a higher level of risk perception. Conclusions: This study confirmed the role of emotions in crisis protective behaviors and post-crisis perceptions regarding an infectious disease outbreak. These findings could enhance understanding of the public’s protective behaviors during infectious disease outbreaks and afterward risk perception corresponding to emotions. The results also suggested strategies for communicating with the public that takes into account emotions that are prominently induced by crises associated with disease outbreaks.

Keywords: crisis communication, emotion, infectious disease outbreak, protective behavior, risk perception

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Authors: Mustafa M. Donma, Orkide Donma

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Obesity is associated with cardiovascular disease risk factors and metabolic syndrome (MetS). In this study, associations between adipokines and adipokine as well as obesity indices were evaluated. Plasma adipokine levels may exhibit variations according to body adipose tissue mass. Besides, upon consideration of obesity as an inflammatory disease, adipokines may play some roles in this process. The ratios of proinflammatory adipokines to adiponectin may act as highly sensitive indicators of body adipokine status. The aim of the study is to present some adipokine indices, which are thought to be helpful for the evaluation of childhood obesity and also to determine the best discriminators in the diagnosis of MetS. 80 prepubertal children (aged between 6-9.5 years) included in the study were divided into three groups; 30 children with normal weight (NW), 25 morbid obese (MO) children and 25 MO children with MetS. Physical examinations were performed. Written informed consent forms were obtained from the parents. The study protocol was approved by Ethics Committee of Namik Kemal University Medical Faculty. Anthropometric measurements, such as weight, height, waist circumference (C), hip C, head C, neck C were recorded. Values for body mass index (BMI), diagnostic obesity notation model assessment Index-II (D2 index) as well as waist-to-hip, head-to-neck ratios were calculated. Adiponectin, resistin, leptin, chemerin, vaspin, progranulin assays were performed by ELISA. Adipokine-to-adiponectin ratios were obtained. SPSS Version 20 was used for the evaluation of data. p values ≤ 0.05 were accepted as statistically significant. Values of BMI and D2 index, waist-to-hip, head-to-neck ratios did not differ between MO and MetS groups (p ≥ 0.05). Except progranulin (p ≤ 0.01), similar patterns were observed for plasma levels of each adipokine. There was not any difference in vaspin as well as resistin levels between NW and MO groups. Significantly increased leptin-to-adiponectin, chemerin-to-adiponectin and vaspin-to-adiponectin values were noted in MO in comparison with those of NW. The most valuable adipokine index was progranulin-to-adiponectin (p ≤ 0.01). This index was strongly correlated with vaspin-to-adiponectin ratio in all groups (p ≤ 0.05). There was no correlation between vaspin-to-adiponectin and chemerin-to--adiponectin in NW group. However, a correlation existed in MO group (r = 0.486; p ≤ 0.05). Much stronger correlation (r = 0.609; p ≤ 0.01) was observed in MetS group between these two adipokine indices. No correlations were detected between vaspin and progranulin as well as vaspin and chemerin levels. Correlation analyses showed a unique profile confined to MetS children. Adiponectin was found to be correlated with waist-to-hip (r = -0.435; p ≤ 0.05) as well as head-to-neck (r = 0.541; p ≤ 0.05) ratios only in MetS children. In this study, it has been investigated if adipokine indices have priority over adipokine levels. In conclusion, vaspin-to-adiponectin, progranulin-to-adiponectin, chemerin-to-adiponectin along with waist-to-hip and head-to-neck ratios were the optimal combinations. Adiponectin, waist-to-hip, head-to-neck, vaspin-to-adiponectin, chemerin-to-adiponectin ratios had appropriate discriminatory capability for MetS children.

Keywords: adipokine indices, metabolic syndrome, obesity indices, pediatric obesity

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Authors: Taurino S. R. Neto, Epitácio D. S. Neto, Flávio Signorelli, Gustavo G. M. Balbi, Alex H. Higashi, Mário Luiz R. Monteiro, Eloisa Bonfá, Danieli C. O. Andrade, Leandro C. Zacharias

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Purpose: To perform a multimodal evaluation, including the use of Optical Coherence Angiotomography (OCTA), in patients with primary antiphospholipid syndrome (PAPS) without ocular complaints and to compare them with healthy individuals. Methods: A complete structural and functional ophthalmological evaluation using OCTA and microperimetry (MP) exam in patients with PAPS, followed at a tertiary rheumatology outpatient clinic, was performed. All ophthalmologic manifestations were recorded and then statistical analysis was performed for comparative purposes; p <0.05 was considered statistically significant. Results: 104 eyes of 52 subjects (26 patients with PAPS without ocular complaints and 26 healthy individuals) were included. Among PAPS patients, 21 were female (80.8%) and 21 (80.8%) were Caucasians. Thrombotic PAPS was the main clinical criteria manifestation (100%); 65.4% had venous and 34.6% had arterial thrombosis. Obstetrical criteria were present in 34.6% of all thrombotic PAPS patients. Lupus anticoagulant was present in all patients. 19.2% of PAPS patients presented ophthalmologic findings against none of the healthy individuals. The most common retinal change was paracentral acute middle maculopathy (PAMM) (3 patients, 5 eyes), followed by drusen-like deposits (1 patient, 2 eyes) and pachychoroid pigment epitheliopathy (1 patient, 1 eye). Systemic hypertension and hyperlipidaemia were present in 100% of the PAPS patients with PAMM, while only six patients (26.1%) with PAPS without PAMM presented these two risk factors together. In the quantitative OCTA evaluation, we found significant differences between PAPS patients and controls in both the superficial vascular complex (SVC) and deep vascular complex (DVC) in the high-speed protocol, as well as in the SVC in the high-resolution protocol. In the analysis of the foveal avascular zone (FAZ) parameters, the PAPS group had a larger area of FAZ in the DVC using the high-speed method compared to the control group (p=0.047). In the quantitative analysis of the MP, the PAPS group had lower central (p=0.041) and global (p<0.001) retinal sensitivity compared to the control group, as well as in the sector analysis, with the exception of the inferior sector. In the quantitative evaluation of fixation stability, there was a trend towards worse stability in the PAPS subgroup with PAMM in both studied methods. Conclusions: PAMM was observed in 11.5% of PAPS patients with no previous ocular complaints. Systemic hypertension concomitant with hyperlipidemia was the most commonly associated risk factor for PAMM in patients with PAPS. PAPS patients present lower vascular density and retinal sensitivity compared to the control group, even in patients without PAMM.

Keywords: antiphospholipid syndrome, optical coherence angio tomography, optical coherence tomography, retina

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Authors: Jorge Iván Bañol-Betancur, Lina María Martínez-Sánchez, María de los Ángeles Rodríguez-Gázquez, Estefanía Bahamonde-Olaya, Ana María Gutiérrez-Tamayo, Laura Isabel Jaramillo-Jaramillo, Camilo Ruiz-Mejía, Natalia Morales-Quintero

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Acute chest pain is a distressing sensation between the diaphragm and the base of the neck and it represents a diagnostic challenge for any physician in the emergency department. Objective: To establish the main clinical and epidemiological characteristics of patients who present with chest pain to the emergency department in a private clinic from the city of Medellin, during 2014-2015. Methods: Cross-sectional retrospective observational study. Population and sample were patients who consulted for chest pain in the emergency department who met the eligibility criteria. The information was analyzed in SPSS program vr.21; qualitative variables were described through relative frequencies, and the quantitative through mean and standard deviation ‬or medians according to their distribution in the study population. Results: A total of 231 patients were evaluated, the mean age was 49.5 ± 19.9 years, 56.7% were females. The most frequent pathological antecedents were hypertension 35.5%, diabetes 10,8%, dyslipidemia 10.4% and coronary disease 5.2%. Regarding pain features, in 40.3% of the patients the pain began abruptly, in 38.2% it had a precordial location, for 20% of the cases physical activity acted as a trigger, and 60.6% was oppressive. Costochondritis was the most common cause of chest pain among patients with an established etiologic diagnosis, representing the 18.2%. Conclusions: Although the clinical features of pain reported coincide with the clinical presentation of an acute coronary syndrome, the most common cause of chest pain in study population was costochondritis instead, indicating that it is a differential diagnostic in the approach of patients with pain acute chest.

Keywords: acute coronary syndrome, chest pain, epidemiology, osteochondritis

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Authors: Mohanad Moustafa, Julia Sieberer, Rhys Davies

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Background: Orbital compartment syndrome (OCS) is a sight-threatening Ophthalmologic emergency caused by rapidly increasing intraorbital pressure. It is usually caused by a retrobulbar hemorrhage as a result of trauma. If not treated in a timely manner, permanent vision loss can occur. Lateral canthotomy and cantholysis are minor procedures that can be performed bedside with equipment available in the emergency department. The aim of the procedure is to release the attachments between the suspensory ligaments of the eye and the bony orbital wall, leading to a decrease in intraorbital pressure and preventing irreversible loss of vision. As most Ophthalmologists across the UK provide non-resident on-call service, this may lead to a delay in the treatment of OCS and stresses the need for Emergency medical staff to be able to provide this sight-saving procedure independently. Aim: To survey current training, experience, and confidence levels among Emergency Medicine doctors in performing emergency lateral canthotomy and to establish whether these variables change the following teaching from experienced ophthalmologists. RESULTS: Most EM registrars had little to no experience in performing lateral canthotomy and cantholysis. The majority of them showed a significant increase in their confidence to perform the procedure following ophthalmic-led teaching. The survey also showed that the registrars felt such training should be added to/part of the EM curriculum. Conclusion: The involvement of Ophthalmologists in the teaching of EM doctors to recognise and treat OCS independently may prevent delays in treatment and reduce the risk of permanent sight loss. This project showed potential in improving patient care and will lead to a National Survey of EM doctors across the UK.

Keywords: lateral canthotomy, retrobulbar hemorrhage, Ophthalmology, orbital compartment syndrome, sight loss, blindness

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Authors: Shannon Rappe, Elizabeth Morse, David Phillippi

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Postpartum women with an opioid use disorder (OUD) are at high risk for treatment disengagement, leaving them vulnerable to overdose and death between seven and twelve months postpartum. Intensive case management programs have been proposed as an effective strategy to reduce barriers and increase treatment engagement among postpartum women. The purpose of this project is to determine the effects of early engagement in an intensive case management program on postpartum engagement and infant health outcomes among postpartum women with opioid use. This retrospective review of secondary data was collected on 225 infants, and 221 postpartum women enrolled in an intensive case management program in Tennessee between May 1, 2019, and May 5, 2020. Chi-squares were computed to examine the timing of engagement during pregnancy, maternal treatment outcomes, and infant health outcomes, including neonatal abstinence syndrome (NAS), birth weight, gestational age, and length of stay. The mean prenatal program engagement was 109 days (SD = 67.6); 16.7% (n = 37) enrolled during the first trimester, 37.6% (n = 83) in the second trimester, and 45.7% (n = 101) in the third trimester. Of the 221 women engaged, 45.2% (n = 100) remained engaged in the case of management at the time of data collection, and 40% (n = 89) remained engaged in MAT at the time of data collection. Twenty- five percent (n = 25) of mothers who graduated sustained engagement in MAT. Of 225 infants 28.9% (n = 65) had a positive NAS status, mean birth weight was 6.5 lbs. (SD = 19.3); mean gestational age was 38.3 weeks (SD = 19.3) and mean length of stay was 8.19 days (SD = 9.8). This study's findings identified that engaging mothers during pregnancy in a program designed to meet their unique challenges positively impacts both the mother and infant outcomes, regardless of their timing.

Keywords: intensive case management, neonatal abstinence syndrome, opioid addiction, opioid crisis, opioid use in pregnant women, postpartum addiction

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Authors: Samy S. Eleawa, Mahmoud A. Alkhateeb, Fahaid H. Alhashem, Ismaeel bin-Jaliah, Hussein F. Sakr, Hesham M. Elrefaey, Abbas O. Elkarib, Mohammad A. Haidara, Abdullah S. Shatoor, Mohammad A. Khalil

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This effect of Resveratrol (RES) against CdCl2- induced toxicity in the rat testes was investigated. Seven experimental groups of adult male rats were formulated as follows: A) Controls + NS, B) Control+ vehicle (saline solution of hydroxypropyl cyclodextrin), C) RES treated, D) CdCl2 +NS, E) CdCl2+ vehicle, F) RES followed by CdCl2 and M) CdCl2 followed by RES. At the end of the protocol, serum levels of FSH, LH, and testosterone were measured in all groups. Testicular levels of TBARS and Super Oxide Dismutase (SOD) activity were also measured. Epidydidimal semen analysis was performed and testicular expression of Bcl-2, p53 and Bax were assessed by RT-PCR. Also, histopathological changes of testes were examined microscopically and described. Pre and Post administration of RES in cadmium chloride-intoxicated rats improved semen parameters including count, motility, daily sperm production and morphology, increased serum concentrations of gonadotropins and testosterone, decreased testicular lipid peroxidation and increased SOD activity. Not only RES attenuated cadmium chloride induced testicular histopathology but was also able to protect against the onset of cadmium chloride testicular toxicity. Cadmium chloride downregulated the anti-apoptotic gene Bcl2 and upregulated the expression of both pro-apoptotic genes p53 and Bax. Resveratrol protected from and partially reversed cadmium chloride testicular via upregulation of Bcl2 and down regulation of p53 and Bax gene expression. Antioxidant activity of RES protects against cadmium chloride testicular toxicity and partially reverses its effect via upregulation of BCl2 and downregulation of p53 and Bax expression. These findings have far reaching implications on subfertility and impotency frequently seen in hypertensive as well as metabolic syndrome patients.

Keywords: resveratrol, cadmium, infertility, sperm, testis, metabolic syndrome

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Authors: Christine P. Gibson, Ramona Alex, Michael Farney, Johana Vallejo-Elias, Mitra Esfandiarei

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Aortic aneurysm is the leading cause of death in Marfan syndrome (MFS), a connective tissue disorder caused by mutations in fibrillin-1 gene (FBN1). MFS aneurysm is characterized by weakening of the aortic wall due to elastin fibers fragmentation and disorganization. The above-average height and distinct physical features make young adults with MFS desirable candidates for competitive sports; but little is known about the exercise limit at which they will be at risk for aortic rupture. On the other hand, aerobic cardiovascular exercise has been shown to have protective effects on the heart and aorta. We have previously reported that mild aerobic exercise can delay the formation of aortic aneurysm in a mouse model of MFS. In this study, we aimed to investigate the effects of various levels of exercise intensity on the progression of aortic aneurysm in the mouse model. Starting at 4 weeks of age, we subjected control and MFS mice to different levels of exercise intensity (8m/min, 10m/min, 15m/min, and 20m/min, corresponding to 55%, 65%, 75%, and 85% of VO2 max, respectively) on a treadmill for 30 minutes per day, five days a week for the duration of the study. At 24 weeks of age, aortic tissue were isolated and subjected to structural and functional studies using histology and wire myography in order to evaluate the effects of different exercise routines on elastin fragmentation and organization and aortic wall elasticity/stiffness. Our data shows that exercise training at the intensity levels between 55%-75% significantly reduces elastin fragmentation and disorganization, with less recovery observed in 85% MFS group. The reversibility of elasticity was also significantly restored in MFS mice subjected to 55%-75% intensity; however, the recovery was less pronounced in MFS mice subjected to 85% intensity. Furthermore, our data shows that smooth muscle cells (SMCs) contractilion in response to vasoconstrictor agent phenylephrine (100nM) is significantly reduced in MFS aorta (54.84 ± 1.63 mN/mm2) as compared to control (95.85 ± 3.04 mN/mm2). At 55% of intensity, exercise did not rescue SMCs contraction (63.45 ± 1.70 mN/mm2), while at higher intensity levels, SMCs contraction in response to phenylephrine was restored to levels similar to control aorta [65% (81.88 ± 4.57 mN/mm2), 75% (86.22 ± 3.84 mN/mm2), and 85% (83.91 ± 5.42 mN/mm2)]. This study provides the first time evidence that high intensity exercise (e.g. 85%) may not provide the most beneficial effects on aortic function (vasoconstriction) and structure (elastin fragmentation, aortic wall elasticity) during the progression of aortic aneurysm in MFS mice. On the other hand, based on our observations, medium intensity exercise (e.g. 65%) seems to provide the utmost protective effects on aortic structure and function in MFS mice. These findings provide new insights into the potential capacity, in which MFS patients could participate in various aerobic exercise routines, especially in young adults affected by cardiovascular complications particularly aortic aneurysm. This work was funded by Midwestern University Research Fund.

Keywords: aerobic exercise, aortic aneurysm, aortic wall elasticity, elastin fragmentation, Marfan syndrome

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Authors: Krima M. Rohela, Raja Sabarinath Sundaralingam

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Humans have been launching rockets since the beginning of the space age in the late 1950s. We have come a long way since then, and the success rate for the launch of rockets has increased considerably. With every successful launch, there is a large amount of junk or debris which is released into the upper layers of the atmosphere. Space debris has been a huge concern for a very long time now. This includes the rocket shells released from the launch and the parts of defunct satellites. Some of this junk will come to fall towards the Earth and burn in the atmosphere. But most of the junk goes into orbit around the Earth, and they remain in orbits for at least 100 years. This can cause a lot of problems to other functioning satellites and may affect the future manned missions to space. The main concern of the space-debris is the increase in space activities, which leads to risks of collisions if not taken care of soon. These collisions may result in what is known as Kessler Syndrome. This debris can be removed by a space-based laser targeting system. Hence, the matter is investigated and discussed. The first step in this involves launching a satellite with a high-power laser device into space, above the debris belt. Then the target material is ablated with a focussed laser beam. This step of the process is highly dependent on the attitude and orientation of the debris with respect to the Earth and the device. The laser beam will cause a jet of vapour and plasma to be expelled from the material. Hence, the force is applied in the opposite direction, and in accordance with Newton’s third law of motion, this will cause the material to move towards the Earth and get pulled down due to gravity, where it will get disintegrated in the upper layers of the atmosphere. The larger pieces of the debris can be directed towards the oceans. This method of removal of the orbital debris will enable safer passage for future human-crewed missions into space.

Keywords: altitude, Kessler syndrome, laser ablation, Newton’s third law of motion, satellites, Space debris

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Authors: Li-Kai Kuo, Shyh-Hau Wang

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The kinetic trajectory of the median nerve (MN) in the wrist has shown to be capable of being applied to assess the carpal tunnel syndrome (CTS), and was found able to be detected by high-frequency ultrasound image via motion tracking technique. Yet, previous study may not quickly perform the measurement due to the use of a single element transducer for ultrasound image scanning. Therefore, previous system is not appropriate for being applied to clinical application. In the present study, B-mode ultrasound images of the wrist corresponding to movements of fingers from flexion to extension were acquired by clinical applicable real-time scanner. The kinetic trajectories of MN were off-line estimated utilizing two dimensional Baysian speckle tracking (TDBST) technique. The experiments were carried out from ten volunteers by ultrasound scanner at 12 MHz frequency. Results verified from phantom experiments have demonstrated that TDBST technique is able to detect the movement of MN based on signals of the past and present information and then to reduce the computational complications associated with the effect of such image quality as the resolution and contrast variations. Moreover, TDBST technique tended to be more accurate than that of the normalized cross correlation tracking (NCCT) technique used in previous study to detect movements of the MN in the wrist. In response to fingers’ flexion movement, the kinetic trajectory of the MN moved toward the ulnar-palmar direction, and then toward the radial-dorsal direction corresponding to the extensional movement. TDBST technique and the employed ultrasound image scanner have verified to be feasible to sensitively detect the kinetic trajectory and displacement of the MN. It thus could be further applied to diagnose CTS clinically and to improve the measurements to assess 3D trajectory of the MN.

Keywords: baysian speckle tracking, carpal tunnel syndrome, median nerve, motion tracking

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Authors: Aihong Zhao, Priya Sastry, Mark L Field, Mohamad Bashir, Arvind Singh, David Richens

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Objectives: Intramural haematoma (IMH) is one of the pathologies, along with acute aortic dissection, that present as Acute Aortic Syndrome (AAS). Evidence suggests that unlike aortic dissection, some intramural haematomas may regress with medical management. However, intramural haematomas have been traditionally managed like acute aortic dissections. Given that some of these pathologies may regress with conservative management, it would be useful to be able to identify which of these may not need high risk emergency intervention. A computational aortic model was used in this study to try and identify intramural haematomas with risk of progression to aortic dissection. Methods: We created a computational model of the aorta with luminal blood flow. Reports in the literature have identified 11 mm as the radial clot thickness that is associated with heightened risk of progression of intramural haematoma. Accordingly, haematomas of varying sizes were implanted in the modeled aortic wall to test this hypothesis. The model was exposed to physiological blood flows and the stresses and strains in each layer of the aortic wall were recorded. Results: Size and shape of clot were seen to affect the magnitude of aortic stresses. The greatest stresses and strains were recorded in the intima of the model. When the haematoma exceeded 10 mm in all dimensions, the stress on the intima reached breaking point. Conclusion: Intramural clot size appears to be a contributory factor affecting aortic wall stress. Our computer simulation corroborates clinical evidence in the literature proposing that IMH diameter greater than 11 mm may be predictive of progression. This preliminary report suggests finite element modelling of the aortic wall may be a useful process by which to examine putative variables important in predicting progression or regression of intramural haematoma.

Keywords: intramural haematoma, acute aortic syndrome, finite element analysis,

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Authors: Ning Li, Jiacheng Zhang, Zheng Yang, Sylvia Kang

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Introduction: Polycystic ovary syndrome (PCOS) is a common physiological symptom in women of reproductive age. Women with PCOS may have infrequent or prolonged menstrual periods and excess male hormone (androgen) levels. Mira analyzes the cycle profiles and the luteinizing hormone (LH) changes in urine, closely related to the fertility level of healthy women and PCOS women. From the difference between the two groups, Mira helps to understand the physiological state of PCOS women and their hormonal changes in the menstrual cycle. Methods: In this study, data from 1496 cycles and information from 342 women belonging to two groups (181 PCOS and 161 Healthy) were collected and analyzed. Women test their luteinizing hormone (LH) in urine daily with Mira fertility test wand and Mira analyzer, from the day after the menstruation to the starting day of the next menstruation. All the collected data meets Mira’s user agreement and users’ identification was removed. The cycle length, LH peak, and other cycle information of the PCOS group were compared with the Healthy group. Results: The average cycle length of PCOS women is 41 days and of the Healthy women is 33 days. 91.4% of cycle length is within 40 days for the Healthy group, while it decreases to 71.9% for the PCOS group. This means PCOS women have a longer menstrual cycle and more variation during the cycle. With more variation, the ovulation prediction becomes more difficult for the PCOS group. The deviation between the LH surge day and the predicted ovulation day, calculated by the starting day of the next menstruation minus 14 days, is greater in the PCOS group compared with the Healthy group. Also, 46.96% of PCOS women have an irregular cycle, and only 19.25% of healthy women show an irregular cycle. Conclusion: PCOS women have longer menstrual cycles and more variation during the menstrual cycles. The traditional ovulation prediction is not suitable for PCOS women.

Keywords: menstrual cycle, PCOS, urinary luteinizing hormone, Mira

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Authors: Aleksandra Chałupnik, Zuzanna Chilimoniuk, Joanna Borowik, Aleksandra Borkowska, Anna Torres

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Background: Precocious puberty is the occurrence of secondary sexual characteristics in girls before the age of 8. The diverse etiology of premature puberty is crucial to determine whether it is true precocious puberty, depending on the activation of the hypothalamic-pituitary-gonadal axis, or pseudo-precocious, which is independent of the activation of this axis. Whatever the cause, premature action of the sex hormones leads to the common symptoms of various forms of puberty. These include the development of sexual characteristics, acne, acceleration of growth rate and acceleration of skeletal maturation. Due to the possible genetic basis of the disorders, an interdisciplinary search for the cause is needed. Case report: The case report concerns a patient of a pediatric gynecology clinic who, at the age of two years, developed advanced thelarhe (M3) and started recurrent vaginal bleeding. In August 2019, gonadotropin suppression initially and after LHRH stimulation and high estradiol levels were reported at the Endocrinology Department. Imaging examinations showed a cyst in the right ovary projection. The bone age was six years. The entire clinical picture indicated pseudo- (peripheral) precocious in the course of ovarian autonomic cyst. In the follow-up ultrasound performed in September, the image of the cyst was stationary and normalization of estradiol levels and clinical symptoms was noted. In December 2019, cyst regression and normal gonadotropin and estradiol concentrations were found. In June 2020, white mucus tinged with blood on the underwear, without any other disturbing symptoms, was observed for several days. Two consecutive USG examinations carried out in the same month confirmed the change in the right ovary, the diameter of which was 25 mm with a very high level of estradiol. Germinal tumor markers were normal. On the Tanner scale, the patient scored M2P1. The labia and hymen had puberty features. The correct vaginal entrance was visible. Another active vaginal bleeding occurred in the first week of July 2020. The considered laparoscopic treatment was abandoned due to the lack of oncological indications. Treatment with Tamoxifen was recommended in July 2020. In the initiating period of treatment, no maturation progression, and even reduction of symptoms, no acceleration of growth and a marked reduction in the size of the cysts were noted. There was no bleeding. After the size of the cyst and hormonal activity increased again, the treatment was changed to Anastrozole, the effect of which led to a reduction in the size of the cyst. Conclusions: The entire clinical picture indicates alleged (peripheral) puberty. Premature puberty in girls, which is manifested as enlarged mammary glands with high levels of estrogens secreted by autonomic ovarian cysts and prepubertal levels of gonadotropins, may indicate McCune-Albright syndrome. Vaginal bleeding may also occur in this syndrome. Cancellation of surgical treatment of the cyst made it impossible to perform a molecular test that would allow to confirm the diagnosis. Taking into account the fact that cysts are often one of the first symptoms of McCune-Albrigt syndrome, it is important to remember about multidisciplinary care for the patient and careful search for skin and bone changes or other hormonal disorders.

Keywords: McCune Albrigth's syndrome, ovarian cyst, pediatric gynaecology, precocious puberty

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Authors: Mohammad Alkhatatbeh, Nehad Ayoub, Nizar Mhaidat, Nesreen Saadeh, Lisa Lincz

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CD36 is involved in the development of atherosclerosis by enhancing macrophage endocytosis of oxidized-low density lipoproteins and foam cell formation. Soluble CD36 (sCD36) was found to be elevated in type 2 diabetic patients and was supposed to act as a marker of insulin resistance and atherosclerosis. In young subjects, sCD36 was associated with cardiovascular risk factors including obesity and hypertriglyceridemia. This study was conducted to further investigate the relationship between plasma sCD36 and cardiovascular risk factors among middle-aged patients with metabolic syndrome (MetS) and healthy controls. SCD36 concentrations were determined by enzyme-linked immunosorbent assays (ELISA) for 41 patients with MetS and 36 healthy controls. Data for other variables were obtained from patients' medical records. SCD36 concentrations were relatively low compared to most other studies and were not significantly different between the MetS group and controls (P-value=0.17). SCD36 was also not correlated with age, body mass index, glucose, lipid profile, serum electrolytes and blood counts. SCD36 was not significantly different between subjects with obesity, hyperglycemia, dyslipidemia, hypertension or cardiovascular disease and those without these abnormalities (P-value > 0.05). The inconsistency between results reported in this study and other studies may be unique to the study population or be a result of the lack of a reliable standardized method for determining absolute sCD36 concentrations. However, further investigations are required to assess CD36 tissue expression in the study population and to assess the accuracy of various commercially available sCD36 ELISA kits. Thus, the availability of a standardized simple sCD36 ELISA that could be performed in any basic laboratory would be more favorable to the specialized flow cytometry methods that detect CD36+ microparticles if it was to be used as a biomarker.

Keywords: metabolic syndrome, CD36, cardiovascular risk, obesity, type 2 diabetes mellitus

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Authors: Sinead Morrison, Ann Swillen, Therese Van Amelsvoort, Samuel Chawner, Elfi Vergaelen, Michael Owen, Marianne Van Den Bree

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22q11.2 Deletion Syndrome (22q11.2DS) is caused by the deletion of approximately 60 genes on chromosome 22 and is associated with high rates of neurodevelopmental disorders such as Attention Deficit Hyperactivity Disorder (ADHD) and Autism Spectrum Disorders (ASD). The presentation of these disorders in 22q11.2DS is reported to be comparable to idiopathic forms and therefore presents a valuable model for understanding mechanisms of neurodevelopmental disorders. Cognitive deficits are thought to be a core feature of neurodevelopmental disorders, and possibly manifest in behavioural and emotional problems. There have been mixed findings in 22q11.2DS on whether the presence of ADHD or ASD is associated with greater cognitive deficits. Furthermore, the influence of developmental stage has never been taken into account. The aim was therefore to examine whether the presence of ADHD or ASD was associated with cognitive deficits in childhood and/or adolescence in 22q11.2DS. We conducted the largest study to date of this kind in 22q11.2DS. The same battery of tasks measuring processing speed, attention and spatial working memory were completed by 135 participants with 22q11.2DS. Wechsler IQ tests were completed, yielding Full Scale (FSIQ), Verbal (VIQ) and Performance IQ (PIQ). Age-standardised difference scores were produced for each participant. Developmental stages were defined as children (6-10 years) and adolescents (10-18 years). ADHD diagnosis was ascertained from a semi-structured interview with a parent. ASD status was ascertained from a questionnaire completed by a parent. Interaction and main effects of cognitive performance of those with or without a diagnosis of ADHD or ASD in childhood or adolescence were conducted with 2x2 ANOVA. Significant interactions were followed up with t-tests of simple effects. Adolescents with ASD displayed greater deficits in all measures (processing speed, p = 0.022; sustained attention, p = 0.016; working memory, p = 0.006) than adolescents without ASD; there was no difference between children with and without ASD. There were no significant differences on IQ measures. Both children and adolescents with ADHD displayed greater deficits on sustained attention (p = 0.002) than those without ADHD. There were no significant differences on any other measures for ADHD. Magnitude of cognitive deficit in individuals with 22q11.2DS varied by cognitive domain, developmental stage and presence of neurodevelopmental disorder. Adolescents with 22q11.2DS and ASD showed greater deficits on all measures, which suggests there may be a sensitive period in childhood to acquire these domains, or reflect increasing social and academic demands in adolescence. The finding of poorer sustained attention in children and adolescents with ADHD supports previous research and suggests a specific deficit which can be separated from processing speed and working memory. This research provides unique insights into the association of ASD and ADHD with cognitive deficits in a group at high genomic risk of neurodevelopmental disorders.

Keywords: 22q11.2 deletion syndrome, attention deficit hyperactivity disorder, autism spectrum disorder, cognitive development

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Authors: Ilana Singer, Anastasia Lučić, Julie Leclerc

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Introduction: Tics, characterized by repetitive, sudden, non-voluntary motor movements or vocalizations, are prevalent in chronic tic disorder (CT) and Tourette Syndrome (TS). These neurodevelopmental disorders often coexist with various psychiatric conditions, leading to challenges and reduced quality of life. While medication in conjunction with behavioral interventions, such as Habit Reversal Training (HRT), Exposure Response Prevention (ERP), and Comprehensive Behavioral Intervention for Tics (CBIT), has shown efficacy, a significant proportion of patients experience persistent tics. Thus, innovative treatment approaches are necessary to improve therapeutic outcomes, such as mindfulness-based approaches. Nonetheless, the effectiveness of mindfulness-based interventions in the context of CT and TS remains understudied. Objective: The objective of this scoping review is to provide an overview of the current state of research on mindfulness-based interventions for CT and TS, identify knowledge and evidence gaps, discuss the effectiveness of mindfulness-based interventions with other treatment options, and discuss implications for clinical practice and policy development. Method: Using guidelines from Peters (2020) and the PRISMA-ScR, a scoping review was conducted. Multiple electronic databases were searched from inception until June 2023, including MEDLINE, EMBASE, PsychInfo, Global Health, PubMed, Web of Science, and Érudit. Inclusion criteria were applied to select relevant studies, and data extraction was independently performed by two reviewers. Results: Five papers were included in the study. Firstly, we found that mindfulness interventions were found to be effective in reducing anxiety and depression while enhancing overall well-being in individuals with tics. Furthermore, the review highlighted the potential role of mindfulness in enhancing functional connectivity within the Default Mode Network (DMN) as a compensatory function in TS patients. This suggests that mindfulness interventions may complement and support traditional therapeutic approaches, particularly HRT, by positively influencing brain networks associated with tic regulation and control. Conclusion: This scoping review contributes to the understanding of the effectiveness of mindfulness-based interventions in managing CT and TS. By identifying research gaps, this review can guide future investigations and interventions to improve outcomes for individuals with CT or TS. Overall, these findings emphasize the potential benefits of incorporating mindfulness-based interventions as a smaller subset within comprehensive treatment strategies. However, it is essential to acknowledge the limitations of this scoping review, such as the exclusion of a pre-established protocol and the limited number of studies available for inclusion. Further research and clinical exploration are necessary to better understand the specific mechanisms and optimal integration of mindfulness-based interventions with existing behavioral interventions for this population.

Keywords: scoping reviews, Tourette Syndrome, tics, mindfulness-based, therapy, intervention

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Authors: S. Fahiminiya, J. Nadaf, F. Rauch, L. Jerome-Majewska, J. Majewski

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Background: Sequencing of protein coding regions of human genome (Whole Exome Sequencing; WES), has demonstrated a great success in the identification of causal mutations for several rare genetic disorders in human. Generally, most of WES studies have focused on rare variants in coding exons and splicing-sites where missense substitutions lead to the alternation of protein product. Although focusing on this category of variants has revealed the mystery behind many inherited genetic diseases in recent years, a subset of them remained still inconclusive. Here, we present the result of our WES studies where analyzing only rare variants in coding regions was not conclusive but further investigation revealed the involvement of non-coding variants and copy number variations (CNV) in etiology of the diseases. Methods: Whole exome sequencing was performed using our standard protocols at Genome Quebec Innovation Center, Montreal, Canada. All bioinformatics analyses were done using in-house WES pipeline. Results: To date, we successfully identified several disease causing mutations within gene coding regions (e.g. SCARF2: Van den Ende-Gupta syndrome and SNAP29: 22q11.2 deletion syndrome) by using WES. In addition, we showed that variants in non-coding regions and CNV have also important value and should not be ignored and/or filtered out along the way of bioinformatics analysis on WES data. For instance, in patients with osteogenesis imperfecta type V and in patients with glucocorticoid deficiency, we identified variants in 5'UTR, resulting in the production of longer or truncating non-functional proteins. Furthermore, CNVs were identified as the main cause of the diseases in patients with metaphyseal dysplasia with maxillary hypoplasia and brachydactyly and in patients with osteogenesis imperfecta type VII. Conclusions: Our study highlights the importance of considering non-coding variants and CNVs during interpretation of WES data, as they can be the only cause of disease under investigation.

Keywords: whole exome sequencing data, non-coding variants, copy number variations, rare diseases

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Authors: Saboor Saeed, Chunming Jiang

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Eosinophilic Granulomatosis with polyangiitis (EGPA), formerly known as Churg-Strauss syndrome, is a rare systemic vasculitis of small and medium-sized vessels that primarily develops in middle-aged individuals. It is characterized by asthma, blood eosinophilia, and extra pulmonary manifestations. In childhood, EGPA is extremely rare. Pulmonary and cardiac involvement is predominant in pediatric EGPA, and mortality is substantial. Generally, EGPA will develop in three stages: a) The allergic phase is commonly associated with asthma, allergic rhinitis, and sinusitis, b) the eosinophilic phase, in which the main pathology is related to the infiltration of eosinophilic organs, i.e., lung, heart, and gastrointestinal system, c) vasculitis phase involved purpura, peripheral neuropathy, and some constitutional symptoms. The key to the treatment of EGPA lies in the early diagnosis of the disease. Early application of glucocorticoids and immunosuppressants can improve symptoms and the overall prognosis of EGPA. Case Description: We presented a case of an 8-year-old boy with a history of short asthma, marked eosinophilia, and multi-organ involvement. The extremely high eosinophil level in the blood (72.50%) prompted the examination of eosinophilic leukemia before EGPA diagnosis was made. Subsequently, this disease was successfully treated. This case report shows a typical case of CSS in childhood because of the extreme eosinophilia. It emphasizes the importance of EGPA is a life-threatening cause of children's eosinophilia. Conclusion: EGPA in children has unique clinical, imaging, and histological characteristics different from those of adults. In pediatric patients, the development and diagnosis of systemic symptoms are often delayed, mainly occurring in the eosinophilic phase, which will lead to specific manifestations. At the same time, we cannot detect a genetic relationship related to EGPA.

Keywords: Churg Strauss syndrome, asthma, vasculitis, hypereosinophilia, eosinophilic granulomatosis polyangiitis

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Authors: Mustafa M. Donma, Orkide Donma

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Metabolisms of macrominerals, those of calcium, phosphorus and magnesium, are closely associated with the metabolism of vitamin D. Particularly magnesium, the second most abundant intracellular cation, is related to biochemical and metabolic processes in the body, such as those of carbohydrates, proteins and lipids. The status of each mineral was investigated in obesity to some extent. Their products and ratios may possibly give much more detailed information about the matter. The aim of this study is to investigate possible relations between each macromineral and some obesity-related parameters. This study was performed on 235 children, whose ages were between 06-18 years. Aside from anthropometric measurements, hematological analyses were performed. TANITA body composition monitor using bioelectrical impedance analysis technology was used to establish some obesity-related parameters including basal metabolic rate (BMR), total fat, mineral and muscle masses. World Health Organization body mass index (BMI) percentiles for age and sex were used to constitute the groups. The values above 99^th percentile were defined as morbid obesity. Those between 95^th and 99^th percentiles were included into the obese group. The overweight group comprised of children whose percentiles were between 95 and 85. Children between the 85^th and 15^th percentiles were defined as normal. Metabolic syndrome (MetS) components (waist circumference, fasting blood glucose, triacylglycerol, high density lipoprotein cholesterol, systolic pressure, diastolic pressure) were determined. High performance liquid chromatography was used to determine Vitamin D status by measuring 25-hydroxy cholecalciferol (25-hydroxy vitamin D₃, 25(OH)D). Vitamin D values above 30.0 ng/ml were accepted as sufficient. SPSS statistical package program was used for the evaluation of data. The statistical significance degree was accepted as p < 0.05. The important points were the correlations found between vitamin D and magnesium as well as phosphorus (p < 0.05) that existed in the group with normal BMI values. These correlations were lost in the other groups. The ratio of phosphorus to magnesium was even much more highly correlated with vitamin D (p < 0.001). The negative correlation between magnesium and total fat mass (p < 0.01) was confined to the MetS group showing the inverse relationship between magnesium levels and obesity degree. In this group, calcium*magnesium product exhibited the highest correlation with total fat mass (p < 0.001) among all groups. Only in the MetS group was a negative correlation found between BMR and calcium*magnesium product (p < 0.05). In conclusion, magnesium is located at the center of attraction concerning its relationships with vitamin D, fat mass and MetS. The ratios and products derived from macrominerals including magnesium have pointed out stronger associations other than each element alone. Final considerations have shown that unique correlations of magnesium as well as calcium*magnesium product with total fat mass have drawn attention particularly in the MetS group, possibly due to the derangements in some basic elements of carbohydrate as well as lipid metabolism.

Keywords: macrominerals, metabolic syndrome, pediatric obesity, vitamin D

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Authors: Chris Cadman, Marcel Strauss

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Background: In 2020, the University Hospital Wishaw in the United Kingdom became the centre for trauma and orthopaedics within its health board. This resulted in the majority of patients with suspected cauda equina syndrome (CES) being assessed and imaged at this site, putting an increased demand on MR imaging and displacing other previous activity. Following this transition, imaging requests for CES did not always follow national guidelines and would often be missing important clinical and safety information. There also appeared to be a very low positive scan rate compared with previously reported studies. In an attempt to improve patient selection and reduce the burden of CES imaging at this site clinical audit was performed. Methods: A total of 250 consecutive patients imaged to assess for CES were evaluated. Patients had to have presented to either the emergency or orthopaedic department acutely with a presenting complaint of suspected CES. Patients were excluded if they were not admitted acutely or were assessed by other clinical specialities. In total, 233 patients were included. Requests were assessed for appropriate clinical history, accurate and complete clinical assessment and MRI safety information. Clinical assessment was allocated a score of 1-6 based on information relating to history of pain, level of pain, dermatomes/myotomes affected, peri-anal paraesthesia/anaesthesia, anal tone and post-void bladder volume with each element scoring one point. Images were assessed for positive findings of CES, acquired spinal stenosis or nerve root compression. Results: Overall, 73% of requests had a clear clinical history of CES. The urgency of the request for imaging was given in 23% of cases. The mean clinical assessment score was 3.7 out of a total of 6. Overall, 2% of scans were positive for CES, 29% had acquired spinal stenosis and 30% had nerve root compression. For patients with CES, 75% had acute neurological signs compared with 68% of the study population. CES patients had a mean clinical history score of 5.3 compared with 3.7 for the study population. Overall, 95% of requests had appropriate MRI safety information. Discussion: it study included 233 patients who underwent specialist assessment and referral for MR imaging for suspected CES. Despite the serious nature of this condition, a large proportion of imaging requests did not have a clear clinical query of CES and the level of urgency was not given, which could potentially lead to a delay in imaging and treatment. Clinical examination was often also incomplete, which can make triaging of patients presenting with similar symptoms challenging. The positive rate for CES was only 2%, much below other studies which had positive rates of 6–40% with a large meta-analysis finding a mean positive rate of 19%. These findings demonstrate an opportunity to improve the quality of imaging requests for suspected CES. This may help to improve patient selection for imaging and result in a positive rate for CES imaging that is more in line with other centres.

Keywords: cauda equina syndrome, acute back pain, MRI, spine

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