Experiences With and Knowledge of Genetics in Families Affected by Congenital Adrenal Hyperplasia: The Parent Perspective

Purpose: This project was conducted in order to assess how parents of a child affected by CYP21A2-related classic CAH experienced receiving genetic information, The goal was to determine their knowledge of the genetics of the condition and how that knowledge has affected different aspects of their lives such as emotional well-being. Methods: Parents of a child with classic CAH diagnosed in the past 10 years were invited to participate in an online survey via an advertisement posted in the support group, Major Aspects of Growth in Children. Survey questions consisted of demographic information, experience with the diagnostic process, knowledge of genetics, and openended questions. At the conclusion of the online survey, participants were invited to provide their email address if they wished to participate in a follow up interview. The semi-structured interview allowed parents to expound on their experiences with receiving genetic information and the impact it had on different aspects of their life. Results: Twenty-two parents completed the online survey and four completed follow-up interviews. Four major themes regarding the diagnostic process were identified: genetic counseling, distress and information overload at diagnosis, use of information to obtain knowledge, and online support.Conclusion:These results indicate involvement of a genetic counselor during the diagnostic process was lacking, however, when participants had received genetic counseling, understanding their test result and inheritance of CAH, as well as the empathy shown by the counselor were the most important benefits. They also suggest parent’s experience a significant amount of distress regarding their child’s diagnosis and identifies resources find useful for information and support. Genetic counselors can provide targeted, directed, and appropriate psychosocial and geneticsfocused care for families. Involvement of a genetic counselor in the diagnostic process for CAH may lead to increased understanding of the genetics of CAH and decreased distress during the diagnostic process. Genetic counselors should work with pediatric endocrinologists to ensure that newly diagnosed parents are referred to genetics

Affirmative Action Plans: A Policy Analysis

My position in this paper is not one of advocacy but one of analysis. There is no need for a philosopher to reinforce the voices of women. Nor am I here in a position of the compleat analyst. There is no need for a philosopher to reinforce the voices of scientists and other non-philosophic analysts. I am here as one whose intellectual loyalty is to the pursuit of logical and moral illumination. In the pursuit of logical illumination, I shall attempt to explicate policy, policy analysis, and affirmative action plans. In the pursuit of moral illumination, I shall discuss the policy of affirmative action relative to the kind of society in which we want to live and the kind of men and women we wish to see nurtured in such a society

Thinking Critically and Teaching Critical Thinking

At the outset I wish to acknowledge that the argument employed in this paper is derived from The Idea of a Social Science by Peter Winch. Extensions relate to what I believe is the significance of the argument for critical thinking and teaching critical thinking. I shall set forth the argument and its significance as answers to the following questions: What does it mean to say that one follows a rule?What does it mean to say that one knows a rule?What is the context for critical thinking?What are some criteria of critical thinking?What might we do in teaching critical thinking? The author of this article, Dr. George S. Maccia, is a member of the Ohio State University faculty and a past preSident of the Ohio Valley Philosophy of Education Society. His article within was originally presented before the Society

Mothers experiencing homelessness : an exploratory study on parental involvement in children\u27s education and perceived barriers to involvement :

This qualitative exploratory study examines the experience of mothers that are homeless with school-age children. The primary research questions were: What is the level of parental involvement of homeless mothers in their children\u27s education? What are the perceived barriers to their involvement? The study was conducted using semi-structured open-ended interviews of eight women that were homeless with at least one school-age child. Study results indicated that level of parental involvement varied depending on the specific temporary living situation of the participant, in addition to her demographics and history of homelessness. Parental involvement was low not due to perceived stigma but mainly due to lack of time and resources. The study sheds light on various housing resources, such as transitional housing and homeless shelters, and points out that transitional housing programs could be more beneficial to children\u27s educations if they allowed the mother more time for involvement and provided more academic resources for the child. In addition, the main challenges of living in a shelter are discussed, such as lack of space to do homework and barriers to adequate sleep

Occupational cataracts and lens opacities in interventional cardiology (O'CLOC study): are X-Rays involved? Radiation-induced cataracts and lens opacities.

International audienceBACKGROUND: The eye is well known to be sensitive to clearly high doses (>2 Gy) of ionizing radiation. In recent years, however, cataracts have been observed in populations exposed to lower doses. Interventional cardiologists are repeatedly and acutely exposed to scattered ionizing radiation (X-rays) during the diagnostic and therapeutic procedures they perform. These "low" exposures may cause damage to the lens of the eye and induce early cataracts, known as radiation-induced cataracts. The O'CLOC study (Occupational Cataracts and Lens Opacities in interventional Cardiology) was designed to test the hypothesis that interventional cardiologists, compared with an unexposed reference group of non-interventional cardiologists, have an increased risk of cataracts. METHOD/DESIGN: The O'CLOC study is a cross-sectional study that will include a total of 300 cardiologists aged at least 40 years: one group of exposed interventional cardiologists and another of non-interventional cardiologists. The groups will be matched for age and sex. Individual information, including risk factors for cataracts (age, diabetes, myopia, etc.), will be collected during a telephone interview. A specific section of the questionnaire for the exposed group focuses on occupational history, including a description of the procedures (type, frequency, radiation protection tool) used. These data will be used to classify subjects into "exposure level" groups according to cumulative dose estimates. Eye examinations for all participants will be performed to detect cataracts, even in the early stages (lens opacities, according to LOCS III, the international standard classification). The analysis will provide an estimation of the cataract risk in interventional cardiology compared with the unexposed reference group, while taking other risk factors into account. An analysis comparing the risks according to level of exposure is also planned. DISCUSSION: This epidemiological study will provide further evidence about the potential risk of radiation-induced cataracts at low doses and contribute to cardiologists' awareness of the importance of radiation protection. TRIAL REGISTRATION: NCT01061463

Review of skin dose calculation software in interventional cardiology

PurposeIn interventional cardiology, patients may be exposed to high doses to the skin resulting in skin burns following single or multiple procedures. Reviewing and analysing available software (online or offline) may help medical physicists assessing the maximum skin dose to the patient together with the dose distribution during (or after) these procedures.Method and resultsCapabilities and accuracy of available software were analysed through an extensive bibliography search and contacts with both vendor and authors. Their markedly differed among developers. In total, 22 software were identified and reviewed according to their algorithms and their capabilities. Special attention was dedicated to their main features and limitations of interest for the intended clinical use. While the accuracy of the 12 software products validated with measurements on phantoms was acceptable (within ± 25%), the agreement was poor for the two products validated on patients (within ± 43% and ± 76%, respectively). In addition, no software has been validated on angiographic units from all manufacturers, though several software developers claimed vendor-independent transportability. Only one software allows for multiple procedures dose calculation.ConclusionLarge differences among vendors made it clear that work remains to be done before an accurate and reliable skin dose mapping is available for all patients

Visual discrimination of male and female faces by infant rhesus macaques

Recent studies have revealed that human infants process female faces differently from male faces. To test whether a similar preference for female faces exists in other primates, we presented nursery-reared infant rhesus macaques with photographs of macaque faces and human faces. At less than 1 month old, infant macaques preferentially oriented towards female macaque faces when faces were presented upright. No preference for female human faces was found. At 9 months old, infants failed to show a visual preference for female macaque faces or female human faces, although they showed significantly more lipsmacking responses at female human faces. Compared to human infants, macaques appear to have stronger predispositions early in life but this preference may nonetheless be amendable to experience. Understanding how innate predispositions and the social rearing environment shape infants’ understanding of faces remain important issues to be explored in order to understand facial processing abilities in humans and other primates

EPI-CT: design, challenges and epidemiological methods of an international study on cancer risk after paediatric and young adult CT

Computed tomography (CT) has great clinical utility and its usage has increased dramatically over the years. Concerns have been raised, however, about health impacts of ionising radiation exposure from CTs, particularly in children, who have a higher risk for some radiation induced diseases. Direct estimation of the health impact of these exposures is needed, but the conduct of epidemiological studies of paediatric CT populations poses a number of challenges which, if not addressed, could invalidate the results. The aim of the present paper is to review the main challenges of a study on the health impact of paediatric CTs and how the protocol of the European collaborative study EPI-CT, coordinated by the International Agency for Research on Cancer (IARC), is designed to address them. The study, based on a common protocol, is being conducted in Belgium, Denmark, France, Germany, the Netherlands, Norway, Spain, Sweden and the United Kingdom and it has recruited over one million patients suitable for long-term prospective follow-up. Cohort accrual relies on records of participating hospital radiology departments. Basic demographic information and technical data on the CT procedure needed to estimate organ doses are being abstracted and passive follow-up is being conducted by linkage to population-based cancer and mortality registries. The main issues which may affect the validity of study results include missing doses from other radiological procedures, missing CTs, confounding by CT indication and socioeconomic status and dose reconstruction. Sub-studies are underway to evaluate their potential impact. By focusing on the issues which challenge the validity of risk estimates from CT exposures, EPI-CT will be able to address limitations of previous CT studies, thus providing reliable estimates of risk of solid tumours and leukaemia from paediatric CT exposures and scientific bases for the optimisation of paediatric CT protocols and patient protection

Male gonadal dose of ionizing radiation delivered during X-ray examinations and monthly probability of pregnancy: a population-based retrospective study

BACKGROUND: Male gonadal exposure to ionizing radiation may disrupt spermatogenesis, but its influence on the fecundity of couples has been rarely studied. We aimed to characterize the influence of male gonadal dose of ionizing radiation delivered during radiodiagnostic on the monthly probability of pregnancy. METHODS: We recruited a random sample of women who retrospectively described 1110 periods of unprotected intercourse beginning between 1985 and 1999 and leading either to a live birth or to no pregnancy; their duration was censored after 13 months. The male partner answered a telephone questionnaire on radiodiagnostic examinations. We assigned a mean gonadal dose to each type of radiodiagnostic examination. We defined male dose for each period of unprotected intercourse as the sum of the gonadal doses of the X-ray examinations experienced between 18 years of age and the date of discontinuation of contraception. Time to pregnancy was analysed using a discrete Cox model with random effect allowing to estimate hazard ratios of pregnancy. RESULTS: After adjustment for female factors likely to influence fecundity, there was no evidence of an association between male dose and the probability of pregnancy (test of homogeneity, p = 0.55). When compared to couples with a male gonadal dose between 0.01 and 0.20 milligrays (n = 321 periods of unprotected intercourse), couples with a gonadal dose above 10 milligrays had a hazard ratio of pregnancy of 1.44 (95% confidence interval, 0.73–2.86, n = 31). CONCLUSION: Our study provides no evidence of a long-term detrimental effect of male gonadal dose of ionizing radiation delivered during radiodiagnostic on the monthly probability of pregnancy during the year following discontinuation of contraceptive use. Classification errors due to the retrospective assessment of male gonadal exposure may have limited the statistical power of our study

VERIDIC: validation and estimation of radiation skin dose in interventional cardiology

Interventne procedure u radiologiji i kardiologiji povezani su sa visokim dozama za kožu pacijenta i potencijalnim radijacionim povredama kože. Različita metodologije i rešenja razvijene us za procenu maksimalne doze za kožu, čija se svojsvta, uključujuši i tačnost značajno razlikuju. U radu su prokazani ciljevi, metode i preminiran a rešenja projekta VERIDIC usmerenoj na validaciju zaličitih ofline i online softvera za procenu doze za kožu pacijenta u intervenatnoj kardiologiji.In interventional cardiology (IC), patients may be exposed to high doses to the skin resulting in tissue reactions (skin burns) following single or multiple procedures. To address this issue, online and offline software has been developed to estimate the maximum skin dose (MSD) to the patient from IC procedures. However, the capabilities and accuracy of such skin dose calculation (SDC) software to estimate MSD and 2D dose distributions markedly differ among vendors. Hence, this project focuses onthe harmonisation of RDSR (radiation dose structured report) and on the validation of SDC software products in IC, which will optimise radiation protection of patients. The outcome of the project will include the standards for digital dose reporting, development of protocols for acceptance testing and Quality Control (QC)of SDC software and setting of diagnostic reference levels per clinical complexity, assessing thefrequency of high-dose procedures as well as dose reduction strategies based on the multi-centric data collection. This paper focuses on the work performed to investigate performance of solid state dosimeters used in clinical environment.Proceedings: [http://vinar.vin.bg.ac.rs/handle/123456789/8681]XXX симпозијум ДЗЗСЦГ (Друштва за заштиту од зрачења Србије и Црне Горе), 2- 4. октобар 2019. године, Дивчибаре, Србиј