Down syndrome in association with features of the androgen insensitivity syndrome.

Three cases of Down syndrome (DS) are reported in association with features of the androgen insensitivity syndrome (AIS). All were 47, XY, +21 and reared as females. One case had a normal female phenotype, and two cases showed minimal clitoromegaly and labial fusion. Minor genital underdevelopment has been reported as common in males with DS; however, AIS has not previously been associated with DS. Androgen binding studies in genital skin fibroblasts were normal in two cases and in the 46,XY brother of the third who has perineal hypospadias. Mutation screening of the androgen receptor (AR) gene by PCR-SSCP was normal in all cases. Normal androgen binding and the absence of an identified mutation in the coding region of the AR gene is very unusual in AIS, particularly in the complete form. This finding suggests the operation of hitherto unrecognised genes on chromosome 21 with a role in androgen response and sex differentiation.     

Universal Mindfulness Training in Schools for Adolescents: a Scoping Review and Conceptual Model of Moderators,Mediators, and Implementation Factors

Prevention Science - There is evidence that universal school-based mindfulness training (SBMT) can have positive effects for young people. However, it is unknown who benefits most from such...     

Assessing the Effectiveness of Front of Pack Labels: Findings from an Online Randomised-Controlled Experiment in a Representative British Sample

Front of pack food labels (FOPLs) provide accessible nutritional information to guide consumer choice. Using an online experiment with a large representative British sample, we aimed to examine whether FOPLs improve participants’ ability to identify the healthiness of foods and drinks. The primary aim was to compare ability to rank between FOPL groups and a no label control. Adults (≥18 years), recruited from the NatCen panel, were randomised to one of five experimental groups (Multiple Traffic Light, MTL; Nutri-Score, N-S; Warning Label, WL; Positive Choice tick, PC; no label control). Stratification variables were year of recruitment to panel, sex, age, government office region, and household income. Packaging images were created for three versions, varying in healthiness, of six food and drink products (pizza, drinks, cakes, crisps, yoghurts, breakfast cereals). Participants were asked to rank the three product images in order of healthiness. Ranking was completed on a single occasion and comprised a baseline measure (with no FOPL), and a follow-up measure including the FOPL as per each participant’s experimental group. The primary outcome was the ability to accurately rank product healthiness (all products ranked correctly vs. any incorrect). In 2020, 4504 participants had complete data and were included in the analysis. The probability of correct ranking at follow-up, and improving between baseline and follow-up, was significantly greater across all products for the N-S, MTL and WL groups, compared to control. This was seen for only some of the products for the PC group. The largest effects were seen for N-S, followed by MTL. These analyses were adjusted for stratification variables, ethnicity, education, household composition, food shopping responsibility, and current FOPL use. Exploratory analyses showed a tendency for participants with higher compared to lower education to rank products more accurately. Conclusions: All FOPLs were effective at improving participants’ ability to correctly rank products according to healthiness in this large representative British sample, with the largest effects seen for N-S, followed by MTL.     

A Canadian Working Group report on fecal microbial therapy: microbial ecosystems therapeutics

A working group from across Canada comprised of clinician and basic scientists, epidemiologists, ethicists, Health Canada regulatory authorities and representatives of major funding agencies (Canadian Institutes of Health Research and the Crohn's and Colitis Foundation of Canada) met to review the current experience with fecal microbial therapy and to identify the key areas of study required to move this field forward. The report highlights the promise of fecal microbial therapy and related synthetic stool therapy (together called 'microbial ecosystems therapeutics') for the treatment of Clostridium difficile colitis and, possibly, other disorders. It identifies pressing clinical issues that need to be addressed as well as social, ethical and regulatory barriers to the use of these important therapies.     

Comparing Active and Passive Varicella Surveillance in Philadelphia, 2005–2010: Recommendations for the Transition to Nationwide Passive Varicella Disease Surveillance

Objective

The Philadelphia Department of Public Health (PDPH) conducts active surveillance for varicella in West Philadelphia. For its approximately 300 active surveillance sites, PDPH mandates biweekly reports of varicella (including zero cases) and performs intensive case investigations. Elsewhere in Philadelphia, surveillance sites passively report varicella cases, and abbreviated investigations are conducted. We used active varicella surveillance program data to inform the transition to nationwide passive varicella surveillance.

Methods

We compared classification of reported cases, varicella disease incidence, and reporting completeness for active and passive surveillance areas for 2005–2010. We assessed reporting completeness using capture-recapture analysis of 2- to 18-year-old cases reported by schools/daycare centers and health-care providers.

Results

From 2005 to 2010, PDPH received 3,280 passive and 969 active surveillance varicella case reports. Most passive surveillance reports were classified as probable cases (18% confirmed, 56% probable, and 26% excluded), whereas nearly all of the active surveillance reports were either confirmed or excluded (36% confirmed, 11% probable, and 53% excluded). Overall incidence rates calculated using confirmed/probable cases were similar in the active and passive surveillance areas. Detection of laboratory-confirmed, breakthrough, and moderate-to-severe cases was equivalent for both surveillance areas.

Conclusions

Although active surveillance for varicella results in better classified cases, passive surveillance provides comparable data for monitoring disease trends in breakthrough and moderate-to-severe varicella. To further improve passive surveillance in the two-dose-varicella vaccine era, jurisdictions should consider conducting periodic enhanced surveillance, encouraging laboratory testing, and collecting additional varicella-specific variables for passive surveillance.To monitor the impact of the varicella vaccination program, the Centers for Disease Control and Prevention, in collaboration with the Philadelphia Department of Public Health (PDPH) and Los Angeles County Department of Health Services, conducted varicella surveillance through the Varicella Active Surveillance Project (VASP) from 1996–2011.¹ This new program was essential, because when varicella vaccine was recommended for use in the United States in 1996, varicella was not nationally notifiable; varicella had been removed from the list of notifiable conditions in 1981 because reporting the then-common disease was not feasible in many states.² VASP has supplied vital information for programmatic decision-making, including the 2007 recommendation for a second dose of varicella vaccine.³With the success of the varicella vaccination program in reducing the incidence of disease, relatively small active surveillance areas cannot accurately monitor further declines in varicella incidence, changes in age distribution, and disease severity. Therefore, more widespread passive surveillance is required. In 2003, varicella was again added to the national notifiable diseases list, and the Council of State and Territorial Epidemiologists (CSTE) recommended that all states implement case-based surveillance by 2005.^4–6 To mitigate the burden of varicella surveillance, CSTE recommended that states begin by focusing on the collection of three varicella-specific variables: age at disease onset, number of lesions (as a proxy for disease severity), and vaccination status, adding variables, including rash characteristics, varicella-related complications, and diagnostic laboratory data, when feasible.² As of 2010, 38 states were conducting case-based passive surveillance, but the completeness of information collected is unknown.⁷In this article, we briefly summarize the characteristics of active and passive surveillance in Philadelphia, Pennsylvania, and compare active and passive varicella surveillance data for 2005–2010 as the basis for recommendations to optimize the quality of national passive surveillance. Specifically, we compared (1) the proportions of confirmed, probable, and excluded cases among overall reports; (2) the proportions of cases reported by type of reporting site; (3) the overall reported incidence of varicella; (4) the completeness of reporting assessed by capture-recapture methodology; and (5) the extent of laboratory testing and findings from testing. Our results suggest that optimizing passive surveillance in the U.S. will require efforts to improve the identification and exclusion of non-varicella cases through periodic enhanced surveillance, laboratory testing, or more thorough investigation of rash characteristics.