An exploration of the psychosocial effects that school-age children with Child Absence Epilepsy (CAE) experience when their condition is misdiagnosed as Attention-Deficit/Hyperactivity Disorder (ADHD)

In today's society, the misdiagnosis of school-age children with the neurological condition Child Absence Epilepsy (CAE) as having Attention-Deficit/Hyperactivity Disorder (ADHD) has a low profile. This may be because of the lack of popular awareness of CAE. The increasing social salience towards the neuropsychological condition of ADHD places these children at risk of experiencing high psychosocial effects. Many symptoms of CAE are also associated with ADHD. However if the condition is misdiagnosed as ADHD, the child with CAE is often mistreated, both medically and socially until the correct diagnosis is made. There is little research available on the psychosocial effects of the misdiagnosis of epilepsy as ADHD, and none available relating to CAE. This research study uses case study methodology to focus on how children with CAE are psychosocially affected at the time of the misdiagnosis of ADHD and subsequently. It also explores the experiences of their parents. An in-depth interview method was adopted to gather the personal recollections of these effects directly from the ten participants in this study. The participants were found with the assistance of Epilepsy Australia and constituted one adolescent from five different families who had experienced the sequence of events and effects under investigation, and a parent (guardian) who cared for these children during this period. The findings of this research indicate that as a result of labelling, these children were misjudged in their communities, leaving strong psychosocial effects on each of the child participants who had previously been misdiagnosed with ADHD. These effects include low self-esteem, insecurity and fear experienced most often in the company of peers. As a result, when reaching adulthood, most of these participants chose to isolate themselves from social contact whenever possible. The findings offer a basis for further research in the area

Absence of TERT promoter mutations in colorectal precursor lesions and cancer

Hotspot mutations (c.-124bp G > A and c.-146bp G > A) in the promoter region of the TERT gene have been recently described in several types of solid tumors, including glioma, bladder, thyroid, liver and skin neoplasms. However, knowledge with respect to colorectal precursor lesions and cancer is scarce. In the present study we aimed to determine the frequency of hotspot TERT promoter mutations in 145 Brazilian patients, including 103 subjects with precursor lesions and 42 with colorectal carcinomas, and we associated the presence of such mutations with the patients clinical-pathological features. The mutation analysis was conclusive in 123 cases, and none of the precursor and colorectal carcinoma cases showed TERT promoter mutations. We conclude that TERT mutations are not a driving factor in colorectal carcinogenesis.This study was financially partially supported by Barretos Cancer Hospital Internal Research Funds (PAIP) to participating authorsinfo:eu-repo/semantics/publishedVersio

Kypho-IORT - a novel approach of intraoperative radiotherapy during kyphoplasty for vertebral metastases

<p>Abstract</p> <p>Background</p> <p>Instable and painful vertebral metastases in patients with progressive visceral metastases present a common therapeutic dilemma. We developed a novel approach to deliver intraoperative radiotherapy (IORT) during kyphoplasty and report the first treated case.</p> <p>Methods/Results</p> <p>60 year old patient with metastasizing breast cancer under chemotherapy presented with a newly diagnosed painful metastasis in the 12^ththoracic vertebra. Under general anaesthesia, a bipedicular approach into the vertebra was chosen with insertion of specially designed metallic sleeves to guide the electron drift tube of the miniature X-ray generator (INTRABEAM, Carl Zeiss Surgical, Oberkochen, Germany). This was inserted with a novel sheet designed for this approach protecting the drift tube. A radiation dose of 8 Gy in 5 mm distance (50 kV X-rays) was delivered. The kyphoplasty balloons (KyphX, Kyphon Inc, Sunnyvale) were inflated after IORT and polymethylmethacrylate cement was injected. The whole procedure lasted less than 90 minutes.</p> <p>Conclusion</p> <p>In conclusion, this novel, minimally invasive procedure can be performed in standard operating rooms and may become a valuable option for patients with vertebral metastases providing immediate stability and local control. A phase I/II study is under way to establish the optimal dose prescription.</p

Surgery for Valvular Heart Disease: A Population-Based Study in a Brazilian Urban Center

BACKGROUND: In middle income countries, the burden of rheumatic heart disease (RHD) remains high, but the prevalence of other heart valve diseases may rise as the population life expectancy increases. Here, we compared population-based data on surgical procedures to assess the relative importance of causes of heart valve disease in Salvador, Brazil. METHODOLOGY/PRINCIPAL FINDINGS: Medical charts of patients who underwent surgery for valvular heart disease from January 2002-December 2005 were reviewed. Incidence of surgery for valvular heart disease was calculated. Logistic regression was used to identify factors associated with in-hospital death following surgery. The most common etiologies for valvular dysfunction in 491 valvular heart surgery patients were RHD (60.3%), degenerative valve disease (15.3%), and endocarditis (4.5%). Mean annual incidence for surgeries due to any valvular heart diseases, RHD, and degenerative valvular disease were 5.02, 3.03, and 0.77 per 100,000 population, respectively. Incidence of surgery due to RHD was highest in young adults; procedures were predominantly paid by the public health sector. In contrast, the incidence of surgery due to degenerative valvular disease was highest among those older than 60 years of age; procedures were mostly paid by the private sector. The overall in-hospital case-fatality ratio was 11.9%. Independent factors associated with death included increase in age (odds ratio: 1.04 per year of age; 95% confidence interval: 1.02-1.06), endocarditis (6.35; 1.92-21.04), multiple valve operative procedures (4.35; 2.12-8.95), and prior heart valve surgery (2.49; 1.05-5.87). CONCLUSIONS/SIGNIFICANCE: RHD remains the main cause for valvular heart surgery in Salvador, which primarily affects young adults without private health insurance. In contrast, surgery due to degenerative valvular disease primarily impacts the elderly with private health insurance. Strategies to reduce the burden of valvular heart disease will need to address the disparate factors that contribute to RHD as well as degenerative valve disease