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Sexual regulation has been a core component of formal schooling in Southern Africa since its inception, with discipline central to teachers’ work. Yet internationally funded, girl-focused developme...

To assess transmission of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in a detention facility experiencing a coronavirus disease outbreak and evaluate testing strategies, we conducted a prospective cohort investigation in a facility in Louisiana, USA. We conducted SARS-CoV-2 testing for detained persons in 6 quarantined dormitories at various time points. Of 143 persons, 53 were positive at the initial test, and an additional 58 persons were positive at later time points (cumulative incidence 78%). In 1 dormitory, all 45 detained persons initially were negative; 18 days later, 40 (89%) were positive. Among persons who were SARS-CoV-2 positive, 47% (52/111) were asymptomatic at the time of specimen collection; 14 had replication-competent virus isolated. Serial SARS-CoV-2 testing might help interrupt transmission through medical isolation and quarantine. Testing in correctional and detention facilities will be most effective when initiated early in an outbreak, inclusive of all exposed persons, and paired with infection prevention and control.

Lissencephaly comprises a spectrum of malformations of cortical development. This spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents anatomical malformations of brain cortical development caused by neuronal migration defects. The molecular etiologies of neuronal migration anomalies are highly enriched for genes encoding microtubules and microtubule-associated proteins, and this enrichment highlights the critical role for these genes in cortical growth and gyrification. Using exome sequencing and family based rare variant analyses, we identified a homozygous variant (c.997C>T [p.Arg333Cys]) in TUBGCP2, encoding gamma-tubulin complex protein 2 (GCP2), in two individuals from a consanguineous family; both individuals presented with microcephaly and developmental delay. GCP2 forms the multiprotein γ-tubulin ring complex (γ-TuRC) together with γ-tubulin and other GCPs to regulate the assembly of microtubules. By querying clinical exome sequencing cases and through GeneMatcher-facilitated collaborations, we found three additional families with bi-allelic variation and similarly affected phenotypes including a homozygous variant (c.1843G>C [p.Ala615Pro]) in two families and compound heterozygous variants consisting of one missense variant (c.889C>T [p.Arg297Cys]) and one splice variant (c.2025-2A>G) in another family. Brain imaging from all five affected individuals revealed varying degrees of cortical malformations including pachygyria and subcortical band heterotopia, presumably caused by disruption of neuronal migration. Our data demonstrate that pathogenic variants in TUBGCP2 cause an autosomal recessive neurodevelopmental trait consisting of a neuronal migration disorder, and our data implicate GCP2 as a core component of γ-TuRC in neuronal migrating cells.

Cryptosporidium is a parasite that causes cryptosporidiosis, a profuse, watery diarrhea that can last up to 3 weeks in immunocompetent patients and can lead to life-threatening malnutrition and wasting in immunocompromised patients.* Fecal-oral transmission can occur by ingestion of contaminated recreational water, drinking water, or food, or through contact with infected persons or animals. For the period 2009-2017, public health officials from 40 states and Puerto Rico voluntarily reported 444 cryptosporidiosis outbreaks resulting in 7,465 cases. Exposure to treated recreational water (e.g., in pools and water playgrounds) was associated with 156 (35.1%) outbreaks resulting in 4,232 (56.7%) cases. Other predominant outbreak exposures included contact with cattle (65 outbreaks; 14.6%) and contact with infected persons in child care settings (57; 12.8%). The annual number of reported cryptosporidiosis outbreaks overall increased an average of approximately 13% per year over time. Reversing this trend will require dissemination of prevention messages to discourage swimming or attending child care while ill with diarrhea and encourage hand washing after contact with animals. Prevention and control measures can be optimized by improving understanding of Cryptosporidium transmission through regular analysis of systematically collected epidemiologic and molecular characterization data.

This article explores state/NGO/funder relations in Africa through an ethnographic case study of Malawi’s Readmission Policy. The Policy, which banned the permanent expulsion of pregnant girls from school in 1993, underwent a formal, government-led review in 2016. By focusing attention on the daily work of “middle figures”—the mid-level civil servants, NGO representatives, and consultants who participated in the policy reform process—this article shows how state disempowerment in Malawi was not wholesale, even as aid funding for development policymaking bypassed government. Rather, government actors deployed key strategies, including time (mis)management, to reclaim moral authority over Malawian schools.

Background and Objective Community mitigation strategies could help reduce COVID-19 incidence, but there are few studies that explore associations nationally and by urbanicity. In a national county-level analysis, we examined the probability of being identified as a county with rapidly increasing COVID-19 incidence (rapid riser identification) during the summer of 2020 by implementation of mitigation policies prior to the summer, overall and by urbanicity. Methods We analyzed county-level data on rapid riser identification during June 1–September 30, 2020 and statewide closures and statewide mask mandates starting March 19 (obtained from state government websites). Poisson regression models with robust standard error estimation were used to examine differences in the probability of rapid riser identification by implementation of mitigation policies (P-value Results Counties in states that closed for 0–59 days were more likely to become a rapid riser county than those that closed for >59 days, particularly in nonmetropolitan areas. The probability of becoming a rapid riser county was 43% lower among counties that had statewide mask mandates at reopening (adjusted prevalence ratio = 0.57; 95% confidence intervals = 0.51–0.63); when stratified by urbanicity, associations were more pronounced in nonmetropolitan areas. Conclusions These results underscore the potential value of community mitigation strategies in limiting the COVID-19 spread, especially in nonmetropolitan areas.

During early August 2020, county-level incidence of coronavirus disease 2019 (COVID-19) generally decreased across the United States, compared with incidence earlier in the summer (1); however, among young adults aged 18-22 years, incidence increased (2). Increases in incidence among adults aged ≥60 years, who might be more susceptible to severe COVID-19-related illness, have followed increases in younger adults (aged 20-39 years) by an average of 8.7 days (3). Institutions of higher education (colleges and universities) have been identified as settings where incidence among young adults increased during August (4,5). Understanding the extent to which these settings have affected county-level COVID-19 incidence can inform ongoing college and university operations and future planning. To evaluate the effect of large colleges or universities and school instructional format* (remote or in-person) on COVID-19 incidence, start dates and instructional formats for the fall 2020 semester were identified for all not-for-profit large U.S. colleges and universities (≥20,000 total enrolled students). Among counties with large colleges and universities (university counties) included in the analysis, remote-instruction university counties (22) experienced a 17.9% decline in mean COVID-19 incidence during the 21 days before through 21 days after the start of classes (from 17.9 to 14.7 cases per 100,000), and in-person instruction university counties (79) experienced a 56.2% increase in COVID-19 incidence, from 15.3 to 23.9 cases per 100,000. Counties without large colleges and universities (nonuniversity counties) (3,009) experienced a 5.9% decline in COVID-19 incidence, from 15.3 to 14.4 cases per 100,000. Similar findings were observed for percentage of positive test results and hotspot status (i.e., increasing among in-person-instruction university counties). In-person instruction at colleges and universities was associated with increased county-level COVID-19 incidence and percentage test positivity. Implementation of increased mitigation efforts at colleges and universities could minimize on-campus COVID-19 transmission.

Campylobacter jejuni is a leading cause of enteric bacterial illness in the United States. Traditional molecular subtyping methods, such as pulsed-field gel electrophoresis (PFGE) and 7-gene multilocus sequence typing (MLST), provided limited resolution to adequately identify C. jejuni outbreaks and separate out sporadic isolates during outbreak investigations. Whole-genome sequencing (WGS) has emerged as a powerful tool for C. jejuni outbreak detection. In this investigation, 45 human and 11 puppy isolates obtained during a 2016–2018 outbreak linked to pet store puppies were sequenced. Core genome multilocus sequence typing (cgMLST) and high-quality single nucleotide polymorphism (hqSNP) analysis of the sequence data separated the isolates into the same two clades containing minor within-clade differences; however, cgMLST analysis does not require selection of an appropriate reference genome, making the method preferable to hqSNP analysis for Campylobacter surveillance and cluster detection. The isolates were classified as sequence type 2109 (ST2109)—a rarely seen MLST sequence type. PFGE was performed on 38 human and 10 puppy isolates; PFGE patterns did not reliably predict clustering by cgMLST analysis. Genetic detection of antimicrobial resistance determinants predicted that all outbreak-associated isolates would be resistant to six drug classes. Traditional antimicrobial susceptibility testing (AST) confirmed a high correlation between genotypic and phenotypic antimicrobial resistance determinations. WGS analysis linked C. jejuni isolates in humans and pet store puppies even when canine exposure information was unknown, aiding the epidemiological investigation during the outbreak. WGS data were also used to quickly identify the highly drug-resistant profile of these outbreak-associated C. jejuni isolates.

Campylobacter causes an estimated 1.3 million diarrheal illnesses in the United States annually (1). In August 2017, the Florida Department of Health notified CDC of six Campylobacter jejuni infections linked to company A, a national pet store chain based in Ohio. CDC examined whole-genome sequencing (WGS) data and identified six isolates from company A puppies in Florida that were highly related to an isolate from a company A customer in Ohio. This information prompted a multistate investigation by local and state health and agriculture departments and CDC to identify the outbreak source and prevent additional illness. Health officials from six states visited pet stores to collect puppy fecal samples, antibiotic records, and traceback information. Nationally, 118 persons, including 29 pet store employees, in 18 states were identified with illness onset during January 5, 2016-February 4, 2018. In total, six pet store companies were linked to the outbreak. Outbreak isolates were resistant by antibiotic susceptibility testing to all antibiotics commonly used to treat Campylobacter infections, including macrolides and quinolones. Store record reviews revealed that among 149 investigated puppies, 142 (95%) received one or more courses of antibiotics, raising concern that antibiotic use might have led to development of resistance. Public health authorities issued infection prevention recommendations to affected pet stores and recommendations for testing puppies to veterinarians. This outbreak demonstrates that puppies can be a source of multidrug-resistant Campylobacter infections in humans, warranting a closer look at antimicrobial use in the commercial dog industry.

Food safety climate and culture is an integral part of a healthy food safety system. While much research has been done on elements of food safety climate and culture, no data are available on their relationship with Listeria monocytogenes contamination at retail. We implemented a forty-four-question survey on sense of commitment, employee training, and personal hygiene in 50 United States grocery retail deli departments across six states to evaluate the links among food safety climate, culture, and L. monocytogenes control. One deli manager and up to five deli associates per establishment completed the survey. Survey responses were correlated with L. monocytogenes contamination risk and prevalence, respectively, via a generalized linear mixed model. Estimate and orthogonal contrast statements with Bonferroni adjustment were applied to elucidate significant effects trends. We found that a greater sense of commitment was correlated with lower L. monocytogenes contamination risk (padj = 0.0317). Delis with low risk of contamination reported a better, more complete employee training program (padj = 0.0117). A deep clean intervention significantly improved managers' (padj = 0.0243) and associates’ (padj = 0.0057) commitment to food safety and their perceptions of training programs (padj = 0.0291). Significant differences in occupation-disaggregated survey responses were reported regarding sense of commitment, training program, and infrastructure cleanability. Personal hygiene and handwashing had mixed results. This is the first study to elucidate the relationship between food safety climate and L. monocytogenes contamination in retail deli environments and provides directionality to sustainably improve food safety climate, culture, and sanitation in retail delis environments.

Zoonotic diseases represent critical threats to global health security. Effective mitigation of the impact of endemic and emerging zoonotic diseases of public health importance requires multisectoral collaboration and interdisciplinary partnerships. The US Centers for Disease Control and Prevention created the One Health Zoonotic Disease Prioritization Tool to help countries identify zoonotic diseases of greatest national concern using input from representatives of human health, agriculture, environment, and wildlife sectors. We review 7 One Health Zoonotic Disease Prioritization Tool workshops conducted during 2014–2016, highlighting workshop outcomes, lessons learned, and shared themes from countries implementing this process. We also describe the tool’s ability to help countries focus One Health capacity-building efforts to appropriately prevent, detect, and respond to zoonotic disease threats.

The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i.e., chorionic villus sampling or amniocentesis). We employed a questionnaire that was adapted from a three-dimensional measure previously used to assess informed decision-making with respect to prenatal screening for Down syndrome and neural tube defects. This measure classifies an informed decision as one that is knowledgeable, value-consistent, and deliberated. Our questionnaire also included an optional open-ended question, soliciting factors that may have influenced the participants' decision to accept prenatal CMA; these responses were analyzed qualitatively. Data analysis on 106 participants indicated that 49% made an informed decision (i.e., meeting all three criteria of knowledgeable, deliberated, and value-consistent). Analysis of 59 responses to the open-ended question showed that "the more information the better" emerged as the dominant factor influencing both informed and uninformed participants' decisions to accept prenatal CMA. Despite learning about the key issues in pre-test genetic counseling, our study classified a significant portion of women as making uninformed decisions due to insufficient knowledge, lack of deliberation, value-inconsistency, or a combination of these three measures. Future efforts should focus on developing educational approaches and counseling strategies to effectively increase the rate of informed decision-making among women offered prenatal CMA.

This chapter explores the strengths and limitations of meeting ethnography in revealing how relations of power and authority are produced through international development discourses, policies, and practices, and the consequences of these relations on the central actors in international development: international "donors", recipient country governments, non-governmental organizations, and end recipients. In order to better understand how power works in international development relations, one must critically examine the relationship between and mutual constitution of official policy, law, institutional mandate, discourses, and daily development practices. Meeting ethnography focused on development's middle figures offers a unique vantage point and methodological lever for accomplishing these goals. Partner meetings are essential sites at which to observe and map both the discursively desired and the practically realized relations of power among development institutions. Meeting ethnography requires that the researcher engage in meeting spaces.

Objectives The objective of this study is to describe the prenatal sonographic features and the results of DNA analysis on three fetuses with dyssegmental dysplasia, Silverman-Handmaker type (DD-SH). Methods A retrospective review of three fetuses with confirmed DD-SH was conducted. The fetal ultrasound findings, the radiological characteristics, and the results of the mutation analysis of the heparan sulphate perlecan gene 2 (HSPG2) were reviewed. Results There were three cases in two families with DD-SH diagnosed prenatally. The main prenatal ultrasound and the radiological features of DD-SH were severe limb shortening and vertebral segmentation and fusion defects (anisospondyly). The DNA analysis of the HSPG2 gene showed that the two affected fetuses in a nonconsanguineous family had a compound heterozygote for the c.646G > T transversion in exon 7 and a c.5788C > T transition in exon 46. The fetus born to the consanguineous couple had a homozygous mutation c.1356-27_1507 + 59del. Conclusion DD-SH can be diagnosed prenatally using fetal ultrasound as early as 13 weeks. Xrays and DNA analysis of the HSPG2 gene are important for the confirmation of the diagnosis and for the preimplantation and prenatal diagnosis in pregnancies at risk. © 2013 John Wiley & Sons, Ltd.

Parental sex education might promote healthy sexual behavior among adolescents, but some parents assume that family communication about sex will lead to sexual activity. Family sex communication has been studied with a limited range of adolescent sexual behaviors but not sexual fantasy or desire. Two measures of family sex communication were compared and examined in relation to measures of sexual fantasy, desire, attitudes, and behavior among a sample of 522 females and males in their late adolescence. An expanded range of sexual behaviors was assessed. Family sex communication was not associated with level of sexual fantasy, desire, attitudes, or most sexual behaviors. Causal inferences cannot be made, but parents might consider talking openly with their children about sexual matters without fearing that such communication will ignite their sexual desire or prompt sexual behavior.

This paper describes the impact of genetic service providers' personal faith and religious values on their experiences interacting with colleagues and patients. We surveyed 480 clinical geneticists (MDs), genetic counselors (GCs), and genetic nurses randomly selected from their professional associations, and then interviewed a sample of survey respondents. Outcomes included religiosity, coping with distress through spiritual beliefs, and personal value conflicts (PVCs). Two hundred fourteen providers completed the survey out of an estimated 348 eligible (61% response rate). Importance attributed to regular attendance at religious services ranged from 39% (not at all important) to 27% (very important). Reliance on religion and spiritual beliefs as a source of comfort ranged from 48% (never) to 33% (sometimes or often). Religiosity varied by discipline with 58% of nurses thinking regular attendance at religious services was moderately or very important as compared to 47% of GCs and 30% of MDs (P = 0.006). Ten percent of respondents had difficulty reconciling their own faith with being a genetics professional, 14% felt the need to hide their own faith from their colleagues or patients, 7% thought their professional stance was not consistent with their personal values, and 4% felt ostracized by the genetics community because of their personal beliefs. The experience of such PVCs was positively correlated with religiosity (r = 0.35; P < 0.0001). GCs were more likely to experience PVCs than MDs or nurses (P = 0.013). Data from the interviews (N = 54) support these findings. A significant minority of genetic service providers are religiously observant and rely on their religious values to cope with distress. These individuals often experience difficulty reconciling their religious beliefs with the expectations of their profession, and sharing their beliefs with their colleagues and patients. Efforts should be made to prevent or reduce the secrecy surrounding personal faith and religion among genetics professionals.

International audience; We analyzed four families that presented with a similar condition characterized by congenital micro-cephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance, suggesting that the mutations cause loss of function. Hypomorphic Asns mutant mice have structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and show deficits in learning and memory mimicking aspects of the patient phenotype. ASNS encodes asparagine synthetase, which catalyzes the synthesis of asparagine from glutamine and aspartate. The neurological impairment resulting from ASNS deficiency may be explained by asparagine depletion in the brain or by accumulation of aspartate/gluta-mate leading to enhanced excitability and neuronal damage. Our study thus indicates that asparagine synthesis is essential for the development and function of the brain but not for that of other organs.

Non-invasive methods are desirable for longitudinal studies examining drug efficacy and disease resolution defined as decreases in epidermal thickness in mouse models of psoriasiform skin disease. This would eliminate the need for either sacrificing animals or collecting serial skin biopsies to evaluate changes in disease progression during an individual study. The quantitation of epidermal thickness using optical coherence tomography (OCT) provides an alternative to traditional histology techniques.Using the KC-Tie2 doxycycline-repressible psoriasiform skin disease mouse model, OCT imaging was completed on diseased back skin of adult KC-Tie2 (n = 3-4) and control (n = 3-4) mice, followed immediately by the surgical excision of the same region for histologic analyses. Animals were then treated with doxycycline to suppress transgene expression and to reverse the skin disease and additional OCT images and tissues were collected 2 and 4 weeks following. Epidermal thickness was measured using OCT and histology.Optical coherence tomography and histology both demonstrated that KC-Tie2 mice had significantly thicker epidermis (~4-fold; P0.0001) than control animals. By 2 weeks following gene repression, decreases in epidermal thickness were observed using both OCT and histology, and were sustained through 4 weeks. Correlation analyses between histology and OCT values at all time points and in all animals revealed high significance (R(2) = 0.78); with correlation being highest in KC-Tie2 mice (R(2) = 0.92) compared to control animals (R(2) = 0.16).Non-invasive OCT imaging provided similar values as those collected using standard histologic measures in thick skin of KC-Tie2 mice but became less reliable in thinner control mouse skin, possibly reflecting limitations in resolution of OCT. Future advances in resolution of OCT may improve and allow greater accuracy of epidermal thickness measurements.

Pontocerebellar hypoplasia (PCH) is a group of autosomal recessive neurodegenerative disorders characterized by prenatal onset of stunted brain growth and progressive atrophy predominantly affecting cerebellum, pons and olivary nuclei, and to a lesser extent also the cerebral cortex. Six subtypes (PCH1–6) were described and genes for four types (PCH1, 2, 4 and 6) were identified. Mutations in the tRNA splicing endonuclease subunit (TSEN) genes 54, 2 and 34 are found in PCH2 and PCH4. One family with severe prenatal onset of PCH has been the only representative of PCH5 published so far, and the molecular genetic status of PCH5 has not been ascertained until now. We screened the previously reported PCH5 family for mutations in the TSEN54 gene. The PCH5 patient was found to be the result of compound heterozygosity for the common TSEN54 mutation (p.A307S) plus a novel splice site mutation. The mutations associated with PCH5 are similar to what has been reported in PCH4. Thus, PCH5, PCH4 and PCH2 represent a spectrum of clinical manifestations caused by different mutations in the TSEN genes. We, therefore, propose to classify PCH2, PCH4 and PCH5 as TSEN mutation spectrum disorders.

Purpose: To explore specific patient care experiences that genetics professionals associate with distress and the emotions engendered by those experiences. Methods: We conducted semistructured telephone interviews with clinical geneticists, genetic counselors, and genetic nurses that focused on a single distressing experience. Results: Fourteen clinical geneticists, 25 genetic counselors, and 14 nurses were interviewed. We categorized the situations that interviewees associated with distressing patient care experiences into seven major types: patient/family decisions (27% of total situations), giving bad news (17%), colleague behavior (15%), end-of-life issues (12%), unintended outcomes (12%), difficult patients (8%), and injustice/inhumanity (8%). Interviewees reported experiencing a variety of negative emotions during these situations, including anger, guilt, helplessness, and inadequacy. Conclusions: The distress and resulting emotions experienced by genetic service providers must be acknowledged. Interventions are needed to assist the clinician in becoming self-aware by reflecting on experienced emotions, examining belief systems and values, and understanding the connection between their emotions and behavior. Involvement in mindfulness meditation, reflective writing, peer support groups or additional communication skill-based training could address this need. In addition, clinicians should seek ways to increase personal meaning derived from providing patient care.