Search results for: clinical symptoms

Authors: Glenda Wrenn, Juliet Muzere, Meldra Hall, Allyson Belton, Kisha Holden, Chanita Hughes-Halbert, Martha Kent, Bekh Bradley

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Understanding the help seeking decision making process and experiences of health disparity populations with posttraumatic stress disorder (PTSD) is central to development of trauma-informed, culturally centered, and patient focused services. Yet, little is known about the decision making process among adult Black women who are non-treatment seekers as they are, by definition, not engaged in services. Methods: Audiotaped interviews were conducted with 30 African American adult women with clinically significant PTSD symptoms who were engaged in primary care, but not in treatment for PTSD despite symptom burden. A qualitative interview guide was used to elucidate key themes. Independent coding of themes mapped to theory and identification of emergent themes were conducted using qualitative methods. An existing quantitative dataset was analyzed to contextualize responses and provide a descriptive summary of the sample. Results: Emergent themes revealed that active mental avoidance, the intermittent nature of distress, ambivalence, and self-identified resilience as undermining to help seeking decisions. Participants were stuck within the help-seeking phase of ‘recognition’ of illness and retained a sense of “it is my decision” despite endorsing significant social and environmental negative influencers. Participants distinguished ‘help acceptance’ from ‘help seeking’ with greater willingness to accept help and importance placed on being of help to others. Conclusions: Elucidation of the decision-making process from the perspective of non-treatment seekers has implications for outreach and treatment within models of integrated and specialty systems care. The salience of responses to trauma symptoms and stagnation in the help seeking recognition phase are findings relevant to integrated care service design and community engagement.

Keywords: culture, help-seeking, integrated care, PTSD

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Authors: Siddharth Jain, Abhenil Mittal, Surendra Kumar Sharma

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Background: With its recent emergence and re-emergence, dengue has become a major international public health concern, imposing significant financial burden especially in developing countries. Despite aggressive control measures in place, India experienced one of its largest outbreaks in 2015 with Delhi being most severely affected. There is a lack of reliable predictors of disease severity and mortality in dengue. The present study was carried out to identify these predictors during the 2015 outbreak. Methods: This prospective observational study conducted at an apex tertiary care center in Delhi, India included confirmed adult dengue patients admitted between August-November 2015. Patient demographics, clinical details, and laboratory findings were recorded in a predesigned proforma. Appropriate statistical tests were used to summarize and compare the clinical and laboratory characteristics and derive predictors of mortality and severe disease, while developing a clinical risk score for mortality. Serotype analysis was also done for 75 representative samples to identify the dominant serotypes. Results: Data of 369 patients were analyzed (mean age 30.9 years; 67% males). Of these, 198 (54%) patients had dengue fever, 125 (34%) had dengue hemorrhagic fever (DHF Grade 1,2)and 46 (12%) developed dengue shock syndrome (DSS). Twenty two (6%) patients died. Late presentation to the hospital (≥5 days after onset) and dyspnoea at rest were identified as independent predictors of severe disease. Age ≥ 24 years, dyspnoea at rest and altered sensorium were identified as independent predictors of mortality. A clinical risk score was developed (12*age + 14*sensorium + 10*dyspnoea) which, if ≥ 22, predicted mortality with a high sensitivity (81.8%) and specificity (79.2%). The predominant serotypes in Delhi (2015) were DENV-2 and DENV-4. Conclusion: Age ≥ 24 years, dyspnoea at rest and altered sensorium were identified as independent predictors of mortality. Platelet counts did not determine the outcome in dengue patients. Timely referral/access to health care is important. Development and use of validated predictors of disease severity and simple clinical risk scores, which can be applied in all healthcare settings, can help minimize mortality and morbidity, especially in resource limited settings.

Keywords: dengue, mortality, predictors, severity

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Authors: Vesile Unver, Tulay Basak, Hatice Ayhan, Ilknur Cinar, Emine Iyigun, Nuran Tosun

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The aim of this study is to analyze the effects of the hybrid simulation. In this simulation, types standardized patients and task trainers are employed simultaneously. For instance, in order to teach the IV activities standardized patients and IV arm models are used. The study was designed as a quasi-experimental research. Before the implementation an ethical permission was taken from the local ethical commission and administrative permission was granted from the nursing school. The universe of the study included second-grade nursing students (n=77). The participants were selected through simple random sample technique and total of 39 nursing students were included. The views of the participants were collected through a feedback form with 12 items. The form was developed by the authors and “Patient intervention self-confidence/competence scale”. Participants reported advantages of the hybrid simulation practice. Such advantages include the following: developing connections between the simulated scenario and real life situations in clinical conditions; recognition of the need for learning more about clinical practice. They all stated that the implementation was very useful for them. They also added three major gains; improvement of critical thinking skills (94.7%) and the skill of making decisions (97.3%); and feeling as if a nurse (92.1%). In regard to the mean scores of the participants in the patient intervention self-confidence/competence scale, it was found that the total mean score for the scale was 75.23±7.76. The findings obtained in the study suggest that the hybrid simulation has positive effects on the integration of theoretical and practical activities before clinical activities for the nursing students.

Keywords: hybrid simulation, clinical practice, nursing education, nursing students

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Authors: Avadhesh Kumar

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Background: The cell phone has rapidly become an integral, and, for some, an essential communication tool that is being used worldwide. Their use without any knowledge of their harmful effects like cancers and other health effects is not ‘quite’ safe. Studies on cancers due to electromagnetic radiations from cell phones are available, but there is a need to research on the detrimental physical and psychological effects on users like students. This study focused on certain psychological or mental health effects of cell phone usage amongst students. Materials and methods: The present study will be carried out on all the students of Banaras Hindu University. Students of both sexes from urban and rural backgrounds were selected at random and administered a pre- tested questionnaire which included aspects related to few common adverse psychological health signs and symptoms attributed to cell phone over-usage. Results: Stress was found to be the commonest symptom (51.47%) followed by irritability/anger (43.79%). Other common mental symptoms included lack of concentration and academic performance, insomnia, anxiety etc. Suggestions: This study confirms that the younger generation, who are the most frequent cell phone users, needs to be aware of the adverse health effects of cell phone usage especially the mental aspects and take preventive measures to minimize and control the same. Less dependence on the device, a curtailing time period spent on talking, communicating more by texting, etc. are some of the practical measures suggested.

Keywords: cell phones, psychological health effects, students, mental health

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Authors: S. J. Yune, S. Y. Lee, S. J. Im, B. S. Kam, S. Y. Baek

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This study aimed to determine the reliability of clinical performance assessments, having been emphasized by ability-based education, and professors overall assessment methods. We addressed the following problems: First, we try to find out whether there is a difference in what we consider to be the main variables affecting the clinical performance test according to the evaluator’s working period and the number of evaluation experience. Second, we examined the relationship among the global rating score (G), analytic global rating score (Gc), and the sum of the analytical checklists (C). What are the main factors affecting clinical performance assessments in relation to the numbers of times the evaluator had administered evaluations and the length of their working period service? What is the relationship between overall assessment score and analytic checklist score? How does analytic global rating with 6 components in OSCE and 4 components in sub-domains (Gc) CPX: aseptic practice, precision, systemic approach, proficiency, successfulness, and attitude overall assessment score and task-specific analytic checklist score sum (C) affect the professor’s overall global rating assessment score (G)? We studied 75 professors who attended a 2016 Bugyeoung Consortium clinical skills performances test evaluating third and fourth year medical students at the Pusan National University Medical school in South Korea (39 prof. in OSCE, 36 prof. in CPX; all consented to participate in our study). Each evaluator used 3 forms; a task-specific analytic checklist, subsequent analytic global rating scale with sub-6 domains, and overall global scale. After the evaluation, the professors responded to the questionnaire on the important factors of clinical performance assessment. The data were analyzed by frequency analysis, correlation analysis, and hierarchical regression analysis using SPSS 21.0. Their understanding of overall assessment was analyzed by dividing the subjects into groups based on experiences. As a result, they considered ‘precision’ most important in overall OSCE assessment, and ‘precise accuracy physical examination’, ‘systemic approaches to taking patient history’, and ‘diagnostic skill capability’ in overall CPX assessment. For OSCE, there was no clear difference of opinion about the main factors, but there was for CPX. Analytic global rating scale score, overall rating scale score, and analytic checklist score had meaningful mutual correlations. According to the regression analysis results, task-specific checklist score sum had the greatest effect on overall global rating. professors regarded task-specific analytic checklist total score sum as best reflecting overall OSCE test score, followed by aseptic practice, precision, systemic approach, proficiency, successfulness, and attitude on a subsequent analytic global rating scale. For CPX, subsequent analytic global rating scale score, overall global rating scale score, and task-specific checklist score had meaningful mutual correlations. These findings support explanations for validity of professors’ global rating in clinical performance assessment.

Keywords: global rating, clinical performance assessment, medical education, analytic checklist

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Authors: Hossein Barri Ghazani

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Transfusion-related acute lung injury is the main reason of transfusion-related death, and it’s assigned to white blood cell reactive antibodies present in the blood product (anti-HLA class I and class II or anti granulocyte antibodies). TRALI may occur in the COVID-19 patients who are treated by convalescent plasma. The rate of TRALI’s reactions is the same in both males and females and can happen in all age groups. TRALI’s occurrence is higher for people who receive plasma from female donors because the parous female donors have multiple HLA antibodies in their plasma. Patients with chronic liver disease have an augmented risk of transfusion-related acute lung injuries from plasma containing blood products like FFP and PRP. The condition of TRALI suddenly starts with a non‐cardiogenic pulmonary Edema, often accompanied by marked systemic hypovolemic and hypotension. The conditions occur during or within a few hours of transfusion. Chest X-ray shows a nodular penetration or bats’ wing pattern of Edema which can be seen in acute respiratory distress syndrome as well. TRALI can occur with any type of blood products and can occur with as little as one unit. The blood donor center should be informed of the suspected TRALI reactions when the symptoms of TRALI are observed. After a review of the clinical data, the donors must be screened for granulocyte and HLA antibodies. The diagnosis and management of TRALI is not simple and is best done with a professional team and a specialty skilled nurse experienced with the upkeep of these patients.

Keywords: TRALI, transfusion-related death, anti-granulocyte antibodies, anti-HLA antibodies, COVID-19

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Authors: Ian McCulloh, Andrew Placona, Darren Stewart, Daniel Gause, Kevin Kiernan, Morgan Stuart, Christopher Zinner, Laura Cartwright

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An estimated 22-25% of viable deceased donor kidneys are discarded every year in the US, while waitlisted candidates are dying every day. As many as 85% of transplanted organs are refused at least once for a patient that scored higher on the match list. There are hundreds of clinical variables involved in making a clinical transplant decision and there is rarely an ideal match. Decision makers exhibit an optimism bias where they may refuse an organ offer assuming a better match is imminent. We propose a semi-parametric Cox proportional hazard model, augmented by an accelerated failure time model based on patient specific suitable organ supply and demand to estimate a time-to-next-offer. Performance is assessed with Cox-Snell residuals and decision curve analysis, demonstrating improved decision support for up to a 5-year outlook. Providing clinical decision makers with quantitative evidence of likely patient outcomes (e.g., time to next offer and the mortality associated with waiting) may improve decisions and reduce optimism bias, thus reducing discarded organs and matching more patients on the waitlist.

Keywords: decision science, KDPI, optimism bias, organ transplant

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Authors: Atitallah Sofien, Bouyahia Olfa, Hadj Salah Ibrahim, Ben Saleh Foued, Missaoui Nada, Ben Rabeh Rania, Yahyaoui Salem, Mazigh Sonia, Boukthir Samir

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Introduction: Carbon monoxide (CO) poisoning is a common pathology responsible for high morbidity and mortality worldwide. Aim: The purpose of this study was to determine the epidemiological profile of CO poisoning as well as its clinical, paraclinical, therapeutic, and evolutionary aspects. Methods: Our study included observations of CO poisoning in children hospitalized in the pediatric department C of the Children's Hospital in Tunis over a period of 3 years. Results: We have collected 199 cases of CO poisoning in children. The average age was 5.43 years, with a sex ratio of 0.98. The source of CO was inside the home in 73.2% of cases, and it was the gas bath heater in 68.8% of cases. The intoxication was collective in 93.5% of the cases, and it occurred during the month of January in 35.8% of the cases. The clinical manifestations were headaches in 69.5% of cases. The rate of carboxyhemoglobin was pathological in 73.9% of cases. All patients received normobaric oxygen therapy, and only 3.6% of patients had a hyperbaric oxygen therapy session. We did not deplore any case of death in our study. Conclusion: CO poisoning remains a public health problem in Tunisia with high morbidity. The risk of secondary complications, particularly neuropsychiatric, requires clinical and possibly neuroradiological monitoring of these victims.

Keywords: poisoning, carbon monoxide, children, hyperbaric oxygenation

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Authors: Aleksandra Bylinska, Samantha Slight-Webb, Kevin Thomas, Miles Smith, Susan Macwana, Nicolas Dominguez, Eliza Chakravarty, Joan T. Merrill, Judith A. James, Joel M. Guthridge

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Background: Systemic Lupus Erythematosus (SLE) is an interferon-related autoimmune disease characterized by B cell dysfunction. One of the main hallmarks is a loss of tolerance to self-antigens leading to increased levels of autoantibodies against nuclear components (ANAs). However, up to 20% of healthy ANA+ individuals will not develop clinical illness. SLE is more prevalent among women and minority populations (African, Asian American and Hispanics). Moreover, African Americans have a stronger interferon (IFN) signature and develop more severe symptoms. The exact mechanisms involved in ethnicity-dependent B cell dysregulation and the progression of autoimmune disease from ANA+ healthy individuals to clinical disease remains unclear. Methods: Peripheral blood mononuclear cells (PBMCs) from African (AA) and European American (EA) ANA- (n=12), ANA+ (n=12) and SLE (n=12) individuals were assessed by multimodal scRNA-Seq/CITE-Seq methods to examine differential gene signatures in specific B cell subsets. Library preparation was done with a 10X Genomics Chromium according to established protocols and sequenced on Illumina NextSeq. The data were further analyzed for distinct cluster identification and differential gene signatures in the Seurat package in R and pathways analysis was performed using Ingenuity Pathways Analysis (IPA). Results: Comparing all subjects, 14 distinct B cell clusters were identified using a community detection algorithm and visualized with Uniform Manifold Approximation Projection (UMAP). The proportion of each of those clusters varied by disease status and ethnicity. Transitional B cells trended higher in ANA+ healthy individuals, especially in AA. Ribonucleoprotein high population (HNRNPH1 elevated, heterogeneous nuclear ribonucleoprotein, RNP-Hi) of proliferating Naïve B cells were more prevalent in SLE patients, specifically in EA. Interferon-induced protein high population (IFIT-Hi) of Naive B cells are increased in EA ANA- individuals. The proportion of memory B cells and plasma cells clusters tend to be expanded in SLE patients. As anticipated, we observed a higher signature of cytokine-related pathways, especially interferon, in SLE individuals. Pathway analysis among AA individuals revealed an NRF2-mediated Oxidative Stress response signature in the transitional B cell cluster, not seen in EA individuals. TNFR1/2 and Sirtuin Signaling pathway genes were higher in AA IFIT-Hi Naive B cells, whereas they were not detected in EA individuals. Interferon signaling was observed in B cells in both ethnicities. Oxidative phosphorylation was found in age-related B cells (ABCs) for both ethnicities, whereas Death Receptor Signaling was found only in EA patients in these cells. Interferon-related transcription factors were elevated in ABCs and IFIT-Hi Naive B cells in SLE subjects of both ethnicities. Conclusions: ANA+ healthy individuals have altered gene expression pathways in B cells that might drive apoptosis and subsequent clinical autoimmune pathogenesis. Increases in certain regulatory pathways may delay progression to SLE. Further, AA individuals have more elevated activation pathways that may make them more susceptible to SLE.

Keywords:

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Authors: Shi-xia Xu, Zai-wen Zhang, Ru-xue Chen, Shan Zhou, Xiang-feng Tang

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Objective: The clinical influence of HLA-DPB1 mismatches on clinical outcome of HSCT is less clear. This is the first meta-analysis to study the HLA-DPB1 matching statues on clinical outcomes after unrelated donor HSCT. Methods: We searched the CIBMTR, Cochrane Central Register of Controlled Trials (CENTRAL) and related databases (1995.01–2017.06) for all relevant articles. Comparative studies were used to investigate the HLA-DPB1 loci mismatches on clinical outcomes after unrelated donor HSCT, such as the disease-free survival (DFS), overall survival, GVHD, relapse, and transplant-related mortality (TRM). We performed meta-analysis using Review Manager 5.2 software and funnel plot to assess the bias. Results: At first, 1246 articles were retrieved, and 18 studies totaling 26368 patients analyzed. Pooled comparisons of studies found that the HLA-DPB1 mismatched group had a lower rate of DFS than the DPB1-matched group, and lower OS in non-T cell depleted transplantation. The DPB1 mismatched group has a higher incidence of aGVHD and more severe ( ≥ III degree) aGvHD, lower rate of relapse and higher TRM. Moreover, compared with 1-antigen mismatch, 2-antigen mismatched led to a higher risk of TRM and lower relapse rate. Conclusions: This meta-analysis indicated HLA-DPB1 has important influence on survival and transplant-related complications during unrelated donor HSCT and HLA-DPB1 donor selection strategies have been proposed based on a personalized algorithm.

Keywords: human leukocyte antigen, DPB1, transplant, meta-analysis, outcome

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Authors: Siobhan Hegarty, Michael Bloomfield, Kim Entholt, Dorothy Williams, Helen Kennerley

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Complex Post-Traumatic Stress Disorder (CPTSD) confers greater risk of poor outcomes than does Post-Traumatic Stress Disorder (PTSD). Despite this, the current treatment guidelines for CPTSD aim to reduce only the ‘core’ symptoms of re-experiencing, hyper-vigilance and avoidance, while not addressing the Disturbances of Self Organisation (DSO) symptoms that distinguish this novel diagnosis from PTSD. The Recovering from Child Abuse Programme (RCAP) is a group protocol, based on the principles of cognitive behavioural therapy (CBT). Preliminary evidence suggests the program is effective at reducing DSO symptoms. This pilot study is the first to investigate the potential effectiveness of the RCAP for the specific treatment of CPTSD. This study was conducted as a service evaluation in a secondary care, traumatic stress service. Treatment was delivered once a week, in two-hour sessions, to ten existing female CPTSD patients of the service, who had experienced sexual abuse in childhood. The programme was administered by two therapists and two additional facilitators, following the RCAP protocol manual. Symptom severity was measured before the administration of therapy and was tracked across a range of measures (International Trauma Questionnaire; Patient Health Questionnaire; Community Assessment of Psychic Experience; Work and Social Adjustment Scale) at five time points, over the course of treatment. Qualitative appraisal of the programme was gathered via weekly feedback forms and from audio-taped recordings of verbal feedback given during group sessions. Preliminary results suggest the programme causes a slight reduction in CPTSD and depressive symptom severity and preliminary qualitative analysis suggests that the RCAP is both helpful and acceptable to group members. Final results and conclusions will follow completed thematic analysis of results.

Keywords: Child sexual abuse, Cognitive behavioural therapy, Complex post-traumatic stress disorder, Recovering from child abuse programme

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Authors: Bang Haeyong

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Purpose: The objectives of this study were to determine the prevalence, incidence, and risk factors for postoperative fever after lumbar fusion. Methods: This study was a retrospective chart review of 291 patients who underwent lumbar fusion between March 2015 and February 2016 at the Asan Medical Center. Information was extracted from electronic medical records. Postoperative fever was measured at Tmax > 37.7 ℃ and Tmax > 38.3 ℃. The presence of postoperative fever, blood culture, urinary excretion, and/or chest x-ray were evaluated. Patients were evaluated for infection after lumbar fusion. Results: We found 222 patients (76.3%) had a postoperative temperature of 37.7 ℃, and 162 patients (55.7%) had a postoperative temperature of 38.3 ℃ or higher. The percentage of febrile patients trended down following the mean 1.8days (from the first postoperative day to seventh postoperative day). Infection rate was 9 patients (3.1%), respiratory virus (1.7%), urinary tract infection (0.3%), phlebitis (0.3%), and surgical site infection (1.4%). There was no correlation between Tmax > 37.7℃ or Tmax > 38.3℃, and timing of fever, positive blood or urine cultures, pneumonia, or surgical site infection. Risk factors for increased postoperative fever following surgery were confirmed to be delay of defecation (OR=1.37, p=.046), and shorten of remove drainage (OR=0.66, p=.037). Conclusions: The incidence of fever was 76.3% after lumbar fusion and the drainage time was faster in the case of fever. It was thought that the bleeding was absorbed at the operation site and fever occurred. The prevalence of febrile septicemia was higher in patients with long bowel movements before surgery than after surgery. Clinical symptoms should be considered because postoperative fever cannot be determined by fever alone because fever and infection are not significant.

Keywords: lumbar surgery, fever, postoperative, risk factor

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Authors: P. Sathyathas, H. M. I. S. W. Herath, T. Amalraj, U. J. M. A. L. Jayasinghe

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Over two thirds of medical radiation can now be attributed to Computed Tomography (CT). There is little information on amount of radiation received from multiphase CT scan of abdomen- pelvic region in clinical practice. We sought to estimate the radiation dose and associated exposure parameters in the multiphase abdomen - pelvic scan of Multideteror Computed Tomography (MDCT) studies in clinical practice. This was a retrospective cross sectional studies describing radiation dose associated with main exposure parameters in diagnostic multiphase abdomen - pelvic scans performed on 152 consecutive patients by two different sixteen slice CT scanners. Patient information, exposure parameters of CTDI (volume), DLP, kVp, mAs and pitch were recorded for every phases of abdomen- a pelvic study from dose report of MDCT scanners (MDCTs). Age of patients range from 14 years to 87 years in both MDCT scanners. Overall CTDI (volume) median was 63.8 (±10.4) mGy for a multiphase abdominal-pelvic scan with scanner A while it was 35.4 (±15.6) mGy for scanner B. Patients' effective dose for multiphase abdomen - pelvic CT scan range from 8.2 mSv to 58 mSv. Median effective dose for patients, who underwent multiphase abdomen- pelvis scan with scanner A and B were 38.5 (± 8.2) mSv and 21.3 (± 8.6) mSv respectively. Median value of exposure parameters of mAs, kVp and pitch, were 150 (±29.7), 130 (±15.3) and 1.3 (±0.1) respectively in scanner A. In scanner B; they were 60 (±14.5), 120 and 1. The median effective dose for patients between multiphase abdomen-pelvic scan of both MDCT, a significant different (P<0.05) was observed. Multiphase abdomen – pelvic scan of clinical study shows significant different of effective dose with reference level of phantom studies (8-14mSv) and it depends on the type of vendors.

Keywords: abdomen-pelvic region, computed tomography, exposure parameters, radiation dose

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Authors: Eddy K. Mukadi

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This work is a documentary and descriptive study devoted to the epidemiological, clinical, histopathological and therapeutic profile of breast cancer deals with the department of gynecology and obstetrics of the university clinics of Kinshasa during the period from 1 January 2014 to 31 December 2014. We have identified 56 cases of breast cancer. These cancers accounted for 45.2% of gynecological mammary cancers. The youngest in our series was 18 years old while the oldest was 74 years old; And the mean age of these patients was 43.4 years and mostly multiparous (35.7%). Brides (60.7%) and bachelors (26.8%) were the most affected by breast cancer. The reasons for consultation were dominated by nodules in the breast (48.2%) followed by pain (35.7%) and nipple discharge (14.3%). In 89.2% of the cases, it was the advanced clinical stage (stage 3 and 4) and the infiltrating ductal carcinoma was the most frequent histological type (75%) The malignant tumor was mainly in the left breast (55.3%), and chemotherapy with hormone therapy and patey was the most convenient treatment (42.8%), while patey mastectomy was performed in 12.5% of patients. Because of the high incidence of breast cancer identified in our study, some preventive measures must be taken into account to address this public health problem, including breast autopalpation once a month, Early detection system development of a national breast cancer policy and the implementation of a national breast cancer control program.

Keywords: breast cancer, histopathological profile, epidemiological profile, Kinshasa

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Authors: Hamza Ikhlaq, Stephen Franks

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Background: Polycystic ovarian syndrome (PCOS) is one of the most common endocrine disorders affecting women of reproductive age. The aetiology behind PCOS is poorly understood but influencing ethnic, environmental, and genetic factors have been recognised. However, literature examining the impact of ethnicity is scarce. We hypothesised Body Mass Index (BMI) and ethnicity influence the clinical, metabolic, and biochemical presentations of PCOS, with an interaction between these factors. Methods: A database of 1081 women with PCOS and a control group of 72 women were analysed. BMIs were grouped using the World Health Organisation classification into normal weight, overweight and obese groups. Ethnicities were classified into European, South Asian, and Afro-Caribbean groups. Biochemical and clinical presentations were compared amongst these groups, and statistical analyses were performed to assess significance. Results: This study revealed ethnicity significantly influences biochemical and clinical presentations of PCOS. A greater proportion of South Asian women are impacted by menstrual cycle disturbances and hirsutism than European and Afro-Caribbean women. South Asian and Afro-Caribbean women show greater measures of insulin resistance and weight gain when compared to their European peers. Women with increased BMI are shown to have an increased prevalence of PCOS phenotypes alongside increased levels of insulin resistance and testosterone. Furthermore, significantly different relationships between the waist-hip ratio and measures of insulin and glucose control for Afro-Caribbean women were identified compared to other ethnic groups. Conclusions: The findings of this study show ethnicity significantly influence the phenotypic and biochemical presentations of PCOS, with an interaction between body habitus and ethnicity found. Furthermore, we provide further data on the influences of BMI on the manifestations of PCOS. Therefore, we highlight the need to consider these factors when reviewing diagnostic criteria and delivering clinical care for these groups.

Keywords: PCOS, ethnicity, BMI, clinical

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Authors: Nam Sze Cheng, P. C. Janita Chau

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Background: Eczema is a chronic inflammatory disease with high global prevalence rates in many childhood populations. It is also the most common paediatric skin problem. Although eczema education and proper skin care were effective in controlling eczema symptoms, the lack of both sufficient time for patient consultation and structured eczema education programme hindered the transferability of knowledge to patients and their parents. As a result, these young patients and their families suffer from a significant physical disability and psychological distress, which can substantially impair their quality of life. Objectives: This integrative review is to examine the effects of educational interventions for children with eczema and identify the core elements associated with an effective intervention. Methods: This integrative review targeted all articles published in 10 databases between May 2016 and February 2017 that reported the outcomes of disease interventions of any format for children and adolescents with the clinical diagnosis of eczema who were under 18 years of age. Five randomized controlled trials (RCT) and one systematic review of 10 RCTs were identified for review. All these publications had high methodological quality, except one study of web-based eczema education that was limited by selection bias and poor subject blinding. Findings: This review found that most studies adopted nurse-led or multi-disciplinary parental eczema education programme at the outpatient clinic setting. The format of these programmes included individual lectures, demonstration and group sharing, and the educational materials covered basic eczema knowledge and management as well as methods to interrupt itch-scratch cycle. The main outcome measures of these studies included severity of eczema symptoms, treatment adherence and quality of life of both patients and their families. Nine included studies reported statistically significant improvement in the primary outcome of symptom severity of these eczematous children. On the other hand, all these reviews failed to identify an effective dosage of intervention under these educational programmes that was attributed to the heterogeneity of the interventions. One study that was designed based on the social cognitive theory to guide the interventional content yielded statistically significant results. The systematic review recommended the importance of measuring parental self-efficacy. Implication: This integrative review concludes that structured educational programme can help nurses understand the theories behind different health interventions. They can then deliver eczema education to their patients in a consistent manner. These interventions also result in behavioral changes through patient education. Due to the lack of validated educational programmes in Chinese, it is imperative to conduct an RCT of eczema educational programme to investigate its effects on eczema severity, quality of life and treatment adherence in Hong Kong children as well as to promote the importance of parental self-efficacy.

Keywords: children, eczema, education, intervention

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Authors: Swati Kishor Zode, Rahul Ambekar

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Data mining is the extraction of fascinating examples on the other hand information from enormous measure of information and choice is made as indicated by the applicable information extracted. As of late, with the dangerous advancement in internet, stockpiling of information and handling procedures, privacy preservation has been one of the major (higher) concerns in data mining. Various techniques and methods have been produced for protection saving data mining. In the situation of Clinical Decision Support System, the choice is to be made on the premise of the data separated from the remote servers by means of Internet to diagnose the patient. In this paper, the fundamental thought is to build the precision of Decision Support System for multiple diseases for different maladies and in addition protect persistent information while correspondence between Clinician side (Client side) also, the Server side. A privacy preserving protocol for clinical decision support network is proposed so that patients information dependably stay scrambled amid diagnose prepare by looking after the accuracy. To enhance the precision of Decision Support System for various malady C5.0 classifiers and to save security, a Homomorphism encryption algorithm Paillier cryptosystem is being utilized.

Keywords: classification, homomorphic encryption, clinical decision support, privacy

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Authors: Mehmet Bulent Ozdemir, Sultan Çagirici, Sahika Pinar Akyer, Fikri Turk

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Neuroanatomical appearance can be correlated with clinical or other characteristics of illness. With the introduction of diagnostic imaging machines, producing 3D images of anatomic structures, calculating the correlation between subjects and pattern of the structures have become possible. The aim of this study is to examine the 3D structure of hippocampus in cases with Alzheimer disease in different dementia severity. For this purpose, 62 female and 38 male- 68 patients’s (age range between 52 and 88) MR scanning were imported to the computer. 3D model of each right and left hippocampus were developed by a computer aided propramme-Surf Driver 3.5. Every reconstruction was taken by the same investigator. There were different apperance of hippocampus from normal to abnormal. In conclusion, These results might improve the understanding of the correlation between the morphological changes in hippocampus and clinical staging in Alzheimer disease.

Keywords: Alzheimer disease, hippocampus, computer-assisted anatomy, 3D

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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: Meriche Hacene, Gadiri Sabiha

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Introduction: Allergy to animal hair is hypersensitivity to animal appendages to look for in front of any rhinoconjunctivitis or asthma. An anamnesis associated with the prick-tests makes it possible to guide the diagnosis, which will be supplemented in case of doubt by specific immunoglobulin E (IgE) assays. The objective of our study is to study the characteristics of patients sensitized to animal hair. Patients and methods: Retrospective study conducted on 105 adult patients and 69 children over a period of 3 years, including patients who received a specific IgE assay (respiratory panel and pediatric panel) by immunodot method. Result: 105 adult patients, including 74 women and 31 men, with an average age of 41 years, of which 8.5% had sensitization to animal hair (5 men and 4 women), namely: cat (5%), horse (4.7%) and dog (3.8%). For the 69 children, a slight female predominance was noted (56%), with an average age of 7.5 years, of which (13%) are sensitized to animal hair (5 girls and 4 boys): cat (10%), while awareness of dog and horse hair was less frequent with an identical prevalence of (4.34%). The dominant symptoms are rhinorrhea and sneezing for both categories, respectively (40% and 26.6% in adults and 23% for both symptoms in children). Cross-sensitization was observed in the 2 series: 1 single cat-dog and cat-horse case and 2 dog-horse cases in adults. In children 100% of patients with sensitization to dog hair had cross-sensitization to cat hair, only 1 case was observed for cat-horse cross-reactivity. Conclusion: This work shows that allergy to animal hair is common. Studies on more representative samples are recommended.

Keywords: children, allegy to animals, specific Ig E, hypersensitivity

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Authors: Jiri Nepereny, Vladimir Vrzal

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Staphylococcus intermedius/pseudintermedius bacteria are commonly found on the skin of healthy dogs and can cause pruritic skin diseases under certain circumstances (trauma, allergy, immunodeficiency, ectoparasitosis, endocrinological diseases, glucocorticoid therapy, etc.). These can develop into complicated superficial or deep pyoderma, which represent a large group of problematic skin diseases in dogs. These are predominantly inflammations of a secondary nature, associated with the occurrence of coagulase-positive Staphylococcus spp. A major problem is increased itching, which greatly complicates the healing process. The aim of this work is to verify the efficacy of the developed preparation Bacteriophage SI (Staphylococcus intermedius). The tested preparation contains a lysate of bacterial cells of S. intermedius host culture including culture medium and live virions of specific phage. Sodium Merthiolate is added as a preservative in a safe concentration. Validation of the efficacy of the product was demonstrated by monitoring the therapeutic effect after application to indicated cases from clinical practice. The indication for inclusion of the patient into the trial was an adequate history and clinical examination accompanied by sample collection for bacteriological examination and isolation of the specific causative agent. Isolate identification was performed by API BioMérieux identification system (API ID 32 STAPH) and rep-PCR typing. The suitability of therapy for a specific case was confirmed by in vitro testing of the lytic ability of the bacteriophage to lyse the specific isolate = formation of specific plaques on the culture isolate on the surface of the solid culture medium. So far, a total of 32 dogs of different sexes, ages and breed affiliations with different symptoms of staphylococcal dermatitis have been included in the testing. Their previous therapy consisted of more or less successful systemic or local application of broad-spectrum antibiotics. The presence of S. intermedius/pseudintermedius has been demonstrated in 26 cases. The isolates were identified as a S. pseudintermedius, in all cases. Contaminant bacterial microflora was always present in the examined samples. The test product was applied subcutaneously in gradually increasing doses over a period of 1 month. After improvement in health status, maintenance therapy was followed by application of the product once a week for 3 months. Adverse effects associated with the administration of the product (swelling at the site of application) occurred in only 2 cases. In all cases, there was a significant reduction in clinical signs (healing of skin lesions and reduction of inflammation) after therapy and an improvement in the well-being of the treated animals. A major problem in the treatment of pyoderma is the frequent resistance of the causative agents to antibiotics, especially the increasing frequency of multidrug-resistant and methicillin-resistant S. pseudintermedius (MRSP) strains. Specific phagolysate using for the therapy of these diseases could solve this problem and to some extent replace or reduce the use of antibiotics, whose frequent and widespread application often leads to the emergence of resistance. The advantage of the therapeutic use of bacteriophages is their bactericidal effect, high specificity and safety. This work was supported by Project FV40213 from Ministry of Industry and Trade, Czech Republic.

Keywords: bacteriophage, pyoderma, staphylococcus spp, therapy

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Authors: Paria Baharvand, Mohammad Reza Abbasi, Soha Namazi

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Introduction: Uremic pruritus (UP) is one of the major complaints in hemodialysis patients. The aim of this randomized clinical trial study was the evaluation of the anti-pruritus effect of Melatonin on hemodialysis patients with UP. Methods: This multi-centered double, blinded randomized clinical trial study was conducted on hemodialysis patients with UP that referred to the dialysis department of Imam Khomeini Hospital, Labbafinezhad Hospital and Ghiasi Hospital in Tehran, Iran, in 2018. Forty participants were enrolled and block randomization was performed by using a randomized list and divided into 2 groups of twenty patients. Evaluation of the 12-Item Pruritus Severity Scale (12-PSS), Visual analog scale (VAS), and Calculation of the affected body surface area for pruritus extent (BSA %) was performed every week. The Melatonin group received a 10 mg soft gel capsule, and the placebo group received a soft gel capsule placebo after dinner. For statistical analysis used by SPSS version 21(IRCT20180714040462N1). Results: 38 hemodialysis patients enrolled in this study. The mean age in the placebo group and in the Melatonin group was 55.88 ± 11.70 and 54.52 ± 13.00 years (p> 0.05). Also, 46% of all participants were female. Aspartate transaminase, alanine transaminase and C-reactive protein have significant differences between the two groups (p< 0.05). VAS score reduction in the two groups had a statistically significant (CI 95% = -1.71, P= 0.015(.The results of BSA% showed Melatonin had a significant effect on the decrease of the pruritus extent compared to placebo (CI 95% = -22.82, P= 0.001(. Conclusion: According to the results of this study and the preliminary effects of Melatonin on uremic pruritus, we suggest performing advanced clinical trials studies.

Keywords: Melatonin, Uremic Pruritus, hemodialysis, anti-pruritus

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Authors: Neha Bhattacharyya, Soumendra Singh, Amrita Banerjee, Ria Ghosh, Oindrila Sinha, Nairit Das, Rajkumar Gayen, Somya Subhra Pal, Sahely Ganguly, Tanmoy Dasgupta, Tanusree Dasgupta, Pulak Mondal, Aniruddha Adhikari, Sharmila Sarkar, Debasish Bhattacharyya, Asim Kumar Mallick, Om Prakash Singh, Samir Kumar Pal

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Background: We aim to develop an integrated device comprised of single-probe EEG and CCD-based motion sensors for a more objective measure of Attention-deficit Hyperactivity Disorder (ADHD). While the integrated device (MAHD) relies on the EEG signal (spectral density of beta wave) for the assessment of attention during a given structured task (painting three segments of a circle using three different colors, namely red, green and blue), the CCD sensor depicts movement pattern of the subjects engaged in a continuous performance task (CPT). A statistical analysis of the attention and movement patterns was performed, and the accuracy of the completed tasks was analysed using indigenously developed software. The device with the embedded software, called MAHD, is intended to improve certainty with criterion E (i.e. whether symptoms are better explained by another condition). Methods: We have used the EEG signal from a single-channel dry sensor placed on the frontal lobe of the head of the subjects (3-5 years old pre-schoolers). During the painting of three segments of a circle using three distinct colors (red, green, and blue), absolute power for delta and beta EEG waves from the subjects are found to be correlated with relaxation and attention/cognitive load conditions. While the relaxation condition of the subject hints at hyperactivity, a more direct CCD-based motion sensor is used to track the physical movement of the subject engaged in a continuous performance task (CPT) i.e., separation of the various colored balls from one table to another. We have used our indigenously developed software for the statistical analysis to derive a scale for the objective assessment of ADHD. We have also compared our scale with clinical ADHD evaluation. Results: In a limited clinical trial with preliminary statistical analysis, we have found a significant correlation between the objective assessment of the ADHD subjects with that of the clinician’s conventional evaluation. Conclusion: MAHD, the integrated device, is supposed to be an auxiliary tool to improve the accuracy of ADHD diagnosis by supporting greater criterion E certainty.

Keywords: ADHD, CPT, EEG signal, motion sensor, psychometric test

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Authors: Merzak Siham, Benguerine Zohra, Si Tayeb Fatima, Bouzian Chaimaa Affaf, Jou Siham, Belkessam Nafissa

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Introduction: Medicinal plants, particularly spices, are essential for pharmacological research due to their health benefits. This study focuses on Curcuma longa, a spice recognized for its therapeutic properties. Materials and Methods: This study is based on a thorough search conducted on Google Scholar, PubMed, and ScienceDirect. From an initial selection of 25 articles, five were chosen to extract relevant information on Curcuma longa. Results and Discussions: Clinical studies have indicated that curcumin is well tolerated at doses up to 12 g/day. Its anti-rheumatic efficacy was compared to phenylbutazone in 18 individuals. Each participant received a daily dose of either 1200 mg of curcumin or 300 mg of phenylbutazone for 2 weeks. Curcumin was well tolerated at this dose and demonstrated activity comparable to phenylbutazone. Additionally, a study on 62 patients showed that curcumin sustainably relieved symptoms without toxicity. Its effects included reduced itching, lesions, and pain. In ten volunteers, administering 500 mg of curcumin for seven days resulted in a 33% decrease in lipid peroxidation, a 29% increase in HDL cholesterol, and a 12% decrease in total cholesterol. It is important to note that curcumin is a potent, selective inhibitor of phosphorylase kinase, an increased marker in psoriasis. Conclusion: Curcumin is promising as a future drug for various diseases, but its bioavailability must be improved through techniques such as nano encapsulation. Additionally, exploring chemical derivatives of curcumin could lead to more potent and targeted molecules.

Keywords: turmeric, spice, medicinal plants, pharmacological activities.

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Authors: Guy Rubin, Ravit Shay, Nimrod Rozen

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The accuracy of a diagnostic test used to classify a patient as having disease or being disease-free is a valuable piece of information to be used by the physician when making treatment decisions. Finger laceration, suspected to have nerve injury is a challenging decision for the treating surgeon. The purpose of this study was to evaluate the sensitivity, specificity and predictive values of six clinical tests in the diagnosis of digital nerve injury. The six clinical tests included light touch, pin prick, static and dynamic 2-point discrimination, Semmes Weinstein monofilament and wrinkle test. Data comparing pre-surgery examination with post-surgery results of 42 patients with 52 digital nerve injury was evaluated. The subjective examinations, light touch, pin prick, static and dynamic 2-point discrimination and Semmes-Weinstein monofilament were not sensitive (57.6, 69.7, 42.4, 40 and 66.8% respectively) and specific (36.8, 36.8, 47.4, 42.1 and 31.6% respectively). Wrinkle test, the only objective examination, was the most sensitive (78.1%) and specific (55.6%). This result gives no pre-operative examination the ability to predict the result of explorative surgery.

Keywords: digital nerve, injury, nerve examination, Semmes-Weinstein monofilamen, sensitivity, specificity, two point discrimination, wrinkle test

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Authors: Treder Natalia, Siemiński Mariusz

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Takotsubo cardiomyopathy (TC) is a recently defined clinical entity. First described by Japanese researchers, today is diagnosed worldwide in 1-2% of patients admitted with the preliminary diagnosis of Acute Coronary Syndrome. The etiology of takotsubo cardiomyopathy remains still largely unknown. Currently, the most likely cause of takotsubo is direct cytotoxicity caused by catecholamine surge triggered by emotional stress. There is a strong relation between recent severe emotional stress and TC. The aim of this study was to analysis the role of stress and personality as a risk factor of TT. The presented research involves 35 people who are diagnosed TC. All patients were women, mean age 60 years. The methods used in the research are popular psychological tests: Perceived Stress Scale, DS14 scale to measure type D personality, The Neo-Five Factor Inventory of Personality and psychological interview. The obtained results prove that stress events may directly precede or even release TC. The stressful events occurred directly before the symptoms in 75% examined. 65% assessed their family life as very stressful. Examiners have also a high level of experienced stress. Only 25% of the TC were classified as having type D personality but they have a high level of negative affectivity. The subjects had a high level of extraversion, openness to experiences and an average level of neuroticism. The results suggested that such a type of personality profile may predispose to the development of takotsubo cardiomyopathy. Patients with TT are the individuals who reveal joint tendency to the experience of negative emotions and very stressful family life.

Keywords: stress, personality trails, familiar problems, Takotsubo cardiomyopathy

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Authors: Ayse Gul Bilen

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Selective serotonin reuptake inhibitors (SSRIs) are commonly prescribed antidepressants that are used clinically for the treatment of anxiety disorders, obsessive-compulsive disorder (OCD), panic disorders and eating disorders. The first SSRI, fluoxetine (sold under the brand names Prozac and Sarafem among others), had an adverse effect profile better than any other available antidepressant when it was introduced because of its selectivity for serotonin receptors. They have been considered almost free of side effects and have become widely prescribed, however questions about the safety and tolerability of SSRIs have emerged with their continued use. Most SSRI side effects are dose-related and can be attributed to serotonergic effects such as nausea. Continuous use might trigger adverse effects such as hyponatremia, tremor, nausea, weight gain, sleep disturbance and sexual dysfunction. Moderate toxicity can be safely observed in the hospital for 24 hours, and mild cases can be safely discharged (if asymptomatic) from the emergency department once cleared by Psychiatry in cases of intentional overdose and after 6 to 8 hours of observation. Although fluoxetine is relatively safe in terms of overdose, it might still be cardiotoxic and inhibit platelet secretion, aggregation, and plug formation. There have been reported clinical cases of seizures, cardiac conduction abnormalities, and even fatalities associated with fluoxetine ingestions. While the medical literature strongly suggests that most fluoxetine overdoses are benign, emergency physicians need to remain cognizant that intentional, high-dose fluoxetine ingestions may induce seizures and can even be fatal due to cardiac arrhythmia. Our case is a 35-year old female patient who was sent to ER with symptoms of confusion, amnesia and loss of orientation for time and location after being found wandering in the streets unconsciously by police forces that informed 112. Upon laboratory examination, no pathological symptom was found except sinus tachycardia in the EKG and high levels of aspartate transaminase (AST) and alanine transaminase (ALT). Diffusion MRI and computed tomography (CT) of the brain all looked normal. Upon physical and sexual examination, no signs of abuse or trauma were found. Test results for narcotics, stimulants and alcohol were negative as well. There was a presence of dysrhythmia which required admission to the intensive care unit (ICU). The patient gained back her conscience after 24 hours. It was discovered from her story afterward that she had been using fluoxetine due to post-traumatic stress disorder (PTSD) for 6 months and that she had attempted suicide after taking 3 boxes of fluoxetine due to the loss of a parent. She was then transferred to the psychiatric clinic. Our study aims to highlight the need to consider toxicologic drug use, in particular, the abuse of selective serotonin reuptake inhibitors (SSRIs), which have been widely prescribed due to presumed safety and tolerability, for diagnosis of patients applying to the emergency room (ER).

Keywords: abuse, amnesia, fluoxetine, intoxication, SSRI

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Authors: Qin-Min Ge, Shu-Ming Pan

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Emergency clinicians usually get teaching qualification after graduating from medical universities without special faculty training in China mainland. Emergency departments are overcrowded places, with large numbers of patients suffering undifferentiated illness. In the field of emergency medicine (EM), improving the faculty competencies and developing the teaching skills are important for medical education, they could enhance learners outcomes and hence affect the patients prognosis indirectly. This article highlights the necessities of faculty training in EM, illustrates the qualities a good clinical educator should qualify, advances the skills as educators in an academic setting and discusses the ways to be good clinical teachers.

Keywords: emergency education, competence, faculty training, teaching, emergency medicine

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Authors: Reham Khalaf-Nazzal, Imad Dweikat, Paula Gimenez, Iker Oyenarte, Alfonso Martinez-Cruz, Domonik Muller

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Metal cation transport mediator (CNNM) gene family comprises 4 isoforms that are expressed in various human tissues. Structurally, CNNMs are complex proteins that contain an extracellular N-terminal domain preceding a DUF21 transmembrane domain, a ‘Bateman module’ and a C-terminal cNMP-binding domain. Mutations in CNNM2 cause familial dominant hypomagnesaemia. Growing evidence highlights the role of CNNM2 in neurodevelopment. Mutations in CNNM2 have been implicated in epilepsy, intellectual disability, schizophrenia, and others. In the present study, we aim to elucidate the function of CNNM2 in the developing brain. Thus, we present the genetic origin of symptoms in two family cohorts. In the first family, three siblings of a consanguineous Palestinian family in which parents are first cousins, and consanguinity ran over several generations, presented a varying degree of intellectual disability, cone-rod dystrophy, and autism spectrum disorder. Exome sequencing and segregation analysis revealed the presence of homozygous pathogenic mutation in the CNNM2 gene, the parents were heterozygous for that gene mutation. Magnesium blood levels were normal in the three children and their parents in several measurements. They had no symptoms of hypomagnesemia. The CNNM2 mutation in this family was found to locate in the CBS1 domain of the CNNM2 protein. The crystal structure of the mutated CNNM2 protein was not significantly different from the wild-type protein, and the binding of AMP or MgATP was not dramatically affected. This suggests that the CBS1 domain could be involved in pure neurodevelopmental functions independent of its magnesium-handling role, and this mutation could have affected a protein partner binding or other functions in this protein. In the second family, another autosomal dominant CNNM2 mutation was found to run in a large family with multiple individuals over three generations. All affected family members had hypomagnesemia and hypermagnesuria. Oral supplementation of magnesium did not increase the levels of magnesium in serum significantly. Some affected members of this family have defects in fine motor skills such as dyslexia and dyslalia. The detected mutation is located in the N-terminal part, which contains a signal peptide thought to be involved in the sorting and routing of the protein. In this project, we describe heterogenous clinical phenotypes related to CNNM2 mutations and protein functions. In the first family, and up to the authors’ knowledge, we report for the first time the involvement of CNNM2 in retinal photoreceptor development and function. In addition, we report the presence of a neurophenotype independent of magnesium status related to the CNNM2 protein mutation. Taking into account the different modes of inheritance and the different positions of the mutations within CNNM2 and its different structural and functional domains, it is likely that CNNM2 might be involved in a wide spectrum of neuropsychiatric comorbidities with considerable varying phenotypes.

Keywords: magnesium transport, autosomal recessive, autism, neurodevelopment, CBS domain

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Authors: Nizar Ghali, Bernard Fortin, Guy Lacroix

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In Quebec, colonoscopies volumes have continued to rise in recent years in the absence of effective monitoring mechanism for the appropriateness and the quality of these exams. In 2010, November, Quebec Government introduced the colorectal cancer-screening program in the objective to control for volume and cost imperfection. This program is based on clinical standards and was initiated for first group of institutions. One year later, Government adds financial incentives for participants institutions. In this analysis, we want to assess for the causal effect of the two components of this program: clinical pathways and financial incentives. Especially we assess for the reform effect on healthcare quality and population health in the context that medical remuneration is not directly dependent on this additional funding offered by the program. We have data on admissions episodes and deaths for 8 years. We use multistate model analog to difference in difference approach to estimate reform effect on the transition probability between different states for each patient. Our results show that the reform reduced length of stay without deterioration in hospital mortality or readmission rate. In the other hand, the program contributed to decrease the hospitalization rate and a less invasive treatment approach for colorectal surgeries. This is a sign of healthcare quality and population health improvement. We demonstrate in this analysis that physicians’ behavior can be affected by both clinical standards and financial incentives even if offered to facilities.

Keywords: multi-state and multi-episode transition model, healthcare quality, length of stay, transition probability, difference in difference

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