A case report on Beckwith-Wiedemann syndrome with macroglossia

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by the overgrowth of various body parts and an increased risk of certain types of cancer. One of the physical features of BWS is macroglossia or an enlarged tongue. In some cases, macroglossia can cause difficulty with speaking, eating, and breathing. A case report on BWS with macroglossia and reduction glossectomy would describe the patient's symptoms and medical history, as well as the diagnosis, treatment, and outcome of the condition. The patient, a 6 -year-old female, presented with symptoms of macroglossia, which was confirmed by physical examination. The patient also had a history of BWS, which had been diagnosed at birth. The patient's macroglossia was causing difficulty with speaking and eating regurgitation of food through the nose and was also putting her at risk for sleep apnoea. After a thorough evaluation, the decision was made to perform a reduction glossectomy, which is a surgical procedure that involves removing a portion of the tongue in order to reduce its size. The surgery was performed under general anaesthesia and was successful in reducing the size of the patient's tongue and improving his ability to speak and eat. The patient recovered well from the surgery and was discharged from the hospital after 3 days of admission. At the 3 months follow-up appointment, the patient had no difficulty with speech, or eating and did not have sleep apnoea. This case report highlights the importance of early diagnosis and treatment of BWS, as well as the potential benefits of reduction glossectomy in managing the symptoms of macroglossia in this condition

An Iterative Association Rule Mining Framework to K-Anonymize a Dataset

Preserving and maintaining client privacy and anonymity is of utmost importance in any domain and specially so in healthcare, as loss of either of these can result in legal and ethical implications. Further, it is sometimes important to extract meaningful and useful information from existing data for research or management purposes. In this case it is necessary for the organization who manages the dataset to be certain that no attributes can identify individuals or group of individuals. This paper proposes an extendable and generalized framework to anonymize a dataset using an iterative association rule mining approach. The proposed framework also makes use of optional domain rules and filter rules to help customize the filtering process. The outcome of the proposed framework is a preprocessed dataset which can be used in further research with confidence that anonymity of individuals is conserved. Evaluation of this research will also be described in the form of a case study using a test dataset provided by the Lawson Health Research Institute in London, Ontario, Canada as a part of their Mental Health Engagement Network (MHEN) study

A New Model of Project Based Learning

A new model for engineering education has been developed and funded. The model is 100% project based learning (PBL) where the students develop their own learning objectives. The projects are authentic needs contributed by collaborating industries. Students monitor the acquisition of 32 technical competencies and all of the design and professionalism competencies required of new practicing engineers. The reasons for the new model, description of the model, research supporting the model, methods for evaluating the model and its transportability are discussed

Influence of a Guanidine Riboswitch in Bacterial Cells

Bacteria live in environments containing complex ecologies of other microbes that communicate and survive through the action of a variety of small metabolic compounds. One common yet relatively unstudied metabolite is guanidine. Although it can be toxic to cells, recent studies have revealed that guanidine may function as a cellular metabolite through a specialized RNA sequence known as a riboswitch. Within our overall project on improving algal productivity, the focus of this study is to: (a) describe various guanidine riboswitch sequences in bacteria that interact with biofuel producing algae; and (b) determine if guanidine has a positive or negative influence on the growth of the bacteria containing these riboswitches. Over 2,000 species across four phyla of bacteria contain genes that help overcome guanidine toxicity. Recently it was discovered that guanidine, a small molecule with three nitrogen linked to a single carbon, regulates some of these genes by specific interactions with a segment of mRNA called a riboswitch. In this investigation, we used the largely uncharacterized cyanobacterium ESFC-1, and others across the four phyla, that contain the guanidine riboswitch, of which there are two subtypes. Both of these two subtypes regulate expression of proteins involved in the export and modification of guanidine inside the bacterial cell. Genome sequence analysis of our guanidine riboswitches indicate that our test bacteria differ in four key highly conserved residues for a guanidine-binding pocket in the model riboswitch. However, structures of the riboswitches may be similar, indicating their functions and guanidine-binding capabilities may be similar

Trends in Suicide Among Youth Aged 10 to 19 Years in the United States, 1975 to 2016

IMPORTANCE Suicide is a leading cause of death among youth aged 10 to 19 years in the United States, with rates traditionally higher in male than in female youth. Recent national mortality data suggest this gap may be narrowing, which warrants investigation. OBJECTIVE To investigate trends in suicide rates among US youth aged 10 to 19 years by age group, sex, race/ethnicity, and method of suicide. DESIGN, SETTING, AND PARTICIPANTS Cross-sectional study using period trend analysis of US suicide decedents aged 10 to 19 years from January 1, 1975, to December 31, 2016. Data were analyzed for periods defined by statistically significant changes in suicide rate trends. Suicide rates were calculated using population estimates. MAIN OUTCOMES AND MEASURES Period trends in suicide rates by sex and age group were assessed using joinpoint regression. Incidence rate ratios (IRRs) were estimated using negative binomial regression comparing male and female suicide rates within periods. RESULTS From 1975 to 2016, we identified 85 051 youth suicide deaths in the United States (68 085 male [80.1%] and 16 966 female [19.9%]) with a male to female IRR of 3.82 (95% CI, 3.35-4.35). Following a downward trend until 2007, suicide rates for female youth showed the largest significant percentage increase compared with male youth (12.7% vs 7.1% for individuals aged 10-14 years; 7.9% vs 3.5% for individuals aged 15-19 years). The male to female IRR decreased significantly across the study period for youth aged 10 to 14 years (3.14 [95% CI, 2.74-3.61] to 1.80 [95% CI, 1.53-2.12]) and 15 to 19 years (4.15 [95% CI, 3.79-4.54] to 3.31 [95% CI, 2.96-3.69]). Significant declining trends in the male to female IRR were found in non-Hispanic white youth aged 10 to 14 years (3.27 [95% CI, 2.68- 4.00] to 2.04 [95% CI, 1.45-2.89]) and non-Hispanic youth of other races aged 15 to 19 years (4.02 [95% CI, 3.29-4.92] to 2.35 [95% CI, 2.00-2.76]). The male to female IRR for firearms increased significantly for youth aged 15 to 19 years (χ2 = 7.74; P = .02 for sex × period interaction). The male to female IRR of suicide by hanging or suffocation decreased significantly for both age groups (10-14 years: χ2 = 88.83; P \u3c .001 for sex × period interaction and 15-19 years: χ2 = 82.15; P \u3c .001 for sex × period interaction). No significant change was found in the male to female IRR of suicide by poisoning across the study period. CONCLUSIONS AND RELEVANCE A significant reduction in the historically large gap in youth suicide rates between male and female individuals underscores the importance of interventions that consider unique differences by sex. Future research examining sex-specific factors associated with youth suicide is warranted

Contextual Factors Associated With County-Level Suicide Rates in the United States, 1999 to 2016

Importance Understanding geographic and community-level factors associated with suicide can inform targeted suicide prevention efforts. Objectives To estimate suicide rates and trajectories, assess associated county-level contextual factors, and explore variation across the rural-urban continuum. Design, Setting, and Participants This cross-sectional study included all individuals aged 25 to 64 years who died by suicide from January 1, 1999, to December 31, 2016, in the United States. Spatial analysis was used to map excess risk of suicide, and longitudinal random-effects models using negative binomial regression tested associations of contextual variables with suicide rates as well as interactions among county-level contextual variables. Data analyses were conducted between January 2019 and July 2019. Exposure County of residence. Main Outcomes and Measures Three-year county suicide rates during an 18-year period stratified by rural-urban location. Results Between 1999 and 2016, 453 577 individuals aged 25 to 64 years died by suicide in the United States. Decedents were primarily male (349 082 [77.0%]) with 101 312 (22.3%) aged 25 to 34 years, 120 157 (26.5%) aged 35 to 44 years, 136 377 (30.1%) aged 45 to 54 years, and 95 771 (21.1%) aged 55 to 64 years. Suicide rates were higher and increased more rapidly in rural than in large metropolitan counties. The highest deprivation quartile was associated with higher suicide rates compared with the lowest deprivation quartile, especially in rural areas, although this association declined during the period studied (rural, 1999-2001: incidence rate ratio [IRR], 1.438; 95% CI, 1.319-1.568; P \u3c .001; large metropolitan, 1999-2001: 1.208; 95% CI, 1.149-1.270; P \u3c .001; rural, 2014-2016: IRR, 1.121; 95% CI, 1.032-1.219; P = .01; large metropolitan, 2014-2016: IRR, 0.942; 95% CI, 0.887-1.001; P = .06). The presence of more gun shops was associated with an increase in county-level suicide rates in all county types except the most rural (rural: IRR, 1.001; 95% CI, 0.999-1.004; P = .40; micropolitan: IRR, 1.005; 95% CI, 1.002-1.007; P \u3c .001; small metropolitan: IRR, 1.010; 95% CI, 1.006-1.014; P \u3c .001; large metropolitan: IRR, 1.012; 95% CI, 1.006-1.018; P \u3c .001). High social capital was associated with lower suicide rates than low social capital (IRR, 0.917; 95% CI, 0.891-0.943; P \u3c .001). High social fragmentation, an increasing percentage of the population without health insurance, and an increasing percentage of veterans in a county were associated with higher suicide rates (high social fragmentation: IRR, 1.077; 95% CI, 1.050-1.103; P \u3c .001; percentage of population without health insurance: IRR, 1.005; 95% CI, 1.004-1.006; P \u3c .001; percentage of veterans: IRR, 1.025; 95% CI, 1.021-1.028; P \u3c .001). Conclusions and Relevance This study found that suicide rates have increased across the nation and most rapidly in rural counties, which may be more sensitive to the impact of social deprivation than more metropolitan counties. Improving social connectedness, civic opportunities, and health insurance coverage as well as limiting access to lethal means have the potential to reduce suicide rates across the rural-urban continuum

Reduction in Urinary Arsenic with Bottled-water Intervention

The study was conducted to measure the effectiveness of providing bottled water in reducing arsenic exposure. Urine, tap-water and toenail samples were collected from non-smoking adults residing in Ajo (n=40) and Tucson (n=33), Arizona, USA. The Ajo subjects were provided bottled water for 12 months prior to re-sampling. The mean total arsenic (μg/L) in tap-water was 20.3±3.7 in Ajo and 4.0±2.3 in Tucson. Baseline urinary total inorganic arsenic (μg/L) was significantly higher among the Ajo subjects (n=40, 29.1±20.4) than among the Tucson subjects (n=32, 11.0±12.0, p<0.001), as was creatinine-adjusted urinary total inorganic arsenic (μg/g) (35.5±25.2 vs 13.2±9.3, p<0.001). Baseline concentrations of arsenic (μg/g) in toenails were also higher among the Ajo subjects (0.51±0.72) than among the Tucson subjects (0.17±0.21) (p<0.001). After the intervention, the mean urinary total inorganic arsenic in Ajo (n=36) dropped by 21%, from 29.4±21.1 to 23.2±23.2 (p=0.026). The creatinine-adjusted urinary total inorganic arsenic and toenail arsenic levels did not differ significantly with the intervention. Provision of arsenic-free bottled water resulted in a modest reduction in urinary total inorganic arsenic

Dealing with a traumatic past: the victim hearings of the South African truth and reconciliation commission and their reconciliation discourse

In the final years of the twentieth and the beginning of the twenty-first century, there has been a worldwide tendency to approach conflict resolution from a restorative rather than from a retributive perspective. The South African Truth and Reconciliation Commission (TRC), with its principle of 'amnesty for truth' was a turning point. Based on my discursive research of the TRC victim hearings, I would argue that it was on a discursive level in particular that the Truth Commission has exerted/is still exerting a long-lasting impact on South African society. In this article, three of these features will be highlighted and illustrated: firstly, the TRC provided a discursive forum for thousands of ordinary citizens. Secondly, by means of testimonies from apartheid victims and perpetrators, the TRC composed an officially recognised archive of the apartheid past. Thirdly, the reconciliation discourse created at the TRC victim hearings formed a template for talking about a traumatic past, and it opened up the debate on reconciliation. By discussing these three features and their social impact, it will become clear that the way in which the apartheid past was remembered at the victim hearings seemed to have been determined, not so much by political concerns, but mainly by social needs

Effect of a Motivational Interviewing–Based Intervention on Initiation of Mental Health Treatment and Mental Health After an Emergency Department Visit Among Suicidal Adolescents

Abstract IMPORTANCE Emergency department (ED) visits present opportunities to identify and refer suicidal youth for outpatient mental health care, although this practice is not routine. OBJECTIVE To examine whether a motivational interviewing–based intervention increases linkage of adolescents to outpatient mental health services and reduces depression symptoms and suicidal ideation in adolescents seeking emergency care for non–mental health–related concerns who screen positive for suicide risk. DESIGN, SETTING, AND PARTICIPANTS In this randomized clinical trial, adolescents aged 12 to 17 years who screened positive on the Ask Suicide Screening Questions (ASQ) during a nonpsychiatric ED visit at 2 academic pediatric EDs in Ohio were recruited from April 2013 to July 2015. Intention-totreat analyses were performed from September 2018 to October 2019. INTERVENTIONS The Suicidal Teens Accessing Treatment After an Emergency Department Visit (STAT-ED) intervention included motivational interviewing to target family engagement, problem solving, referral assistance, and limited case management. The enhanced usual care (EUC) intervention consisted of brief mental health care consultation and referral. MAIN OUTCOMES AND MEASURES Primary outcomes were mental health treatment initiation and attendance within 2 months of ED discharge and suicidal ideation (assessed by the Suicidal Ideation Questionnaire JR) and depression symptoms (assessed by the Center for Epidemiologic Studies– Depression scale) at 2 and 6 months. Exploratory outcomes included treatment initiation and attendance and suicide attempts at 6 months. RESULTS A total of 168 participants were randomized and 159 included in the intention-to-treat analyses (mean [SD] age, 15.0 [1.5] years; 126 [79.2%] female; and 80 [50.3%] white). Seventy-nine participants were randomized to receive the STAT-ED intervention and 80 to receive EUC. At 2 months, youth in the STAT-ED group had similar rates of mental health treatment initiation compared with youth in the EUC group as assessed by parent report (29 [50.9%] vs 22 [34.9%]; adjusted odds ratio [OR], 2.08; 95% CI, 0.97-4.45) and administrative data from mental health care agencies (19 [29.7%] vs 11 [19.3%]; adjusted OR, 1.77; 95% CI, 0.76-4.15). At 2 months, youth in the STAT-ED group and the EUC group had similar rates of treatment attendance (1 appointment: 6 [9.7%] vs 2 [3.6%]; adjusted OR, 2.97; 95% CI, 0.56-15.73; 2 appointments: 10 [16.1%] vs 7 [12.7%]; adjusted OR, 1.43; 95% CI, 0.50-4.11). There were no significant group × time differences in suicidal ideation (F = 0.28; P = .72) and depression symptoms (F = 0.49; P = .60) during the 6-month follow-up period. In exploratory analyses, at 6 months, STAT-ED participants had significantly higher rates of agencyreported mental health treatment initiation (adjusted OR, 2.48; 95% CI, 1.16-5.28) and more completed appointments (t99.7 = 2.58; P = .01). CONCLUSIONS AND RELEVANCE This study’s findings indicate that no differences were found on any primary outcome by study condition. However, STAT-ED was more efficacious than EUC at increasing mental health treatment initiation and attendance at 6 months. TRIAL REGISTRATION ClinicalTrials.gov identifier: NCT01779414 JAMA Network Open. 2019;2(12):e1917941. doi:10.1001/jamanetworkopen.2019.1794

DNA methylation among firefighters

Firefighters are exposed to carcinogens and have elevated cancer rates. We hypothesized that occupational exposures in firefighters would lead to DNA methylation changes associated with activation of cancer pathways and increased cancer risk. To address this hypothesis, we collected peripheral blood samples from 45 incumbent and 41 new recruit nonsmoking male firefighters and analyzed the samples for DNA methylation using an Illumina Methylation EPIC 850k chip. Adjusting for age and ethnicity, we performed: 1) genome-wide differential methylation analysis; 2) genome-wide prediction for firefighter status (incumbent or new recruit) and years of service; and 3) Ingenuity Pathway Analysis (IPA). Four CpGs, including three in the YIPF6, MPST, and PCED1B genes, demonstrated above 1.5-fold statistically significant differential methylation after Bonferroni correction. Genome-wide methylation predicted with high accuracy incumbent and new recruit status as well as years of service among incumbent firefighters. Using IPA, the top pathways with more than 5 gene members annotated from differentially methylated probes included Sirtuin signaling pathway, p53 signaling, and 5' AMP-activated protein kinase (AMPK) signaling. These DNA methylation findings suggest potential cellular mechanisms associated with increased cancer risk in firefighters.US Federal Emergency Management Agency Assistance to Firefighters Grant program [EMW-2014-FP-00200]Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]