Developing a community-led rare disease ELSI research agenda.

BACKGROUND: Research priorities are best defined through engagement with communities who will be impacted by the research and have lived experience of the topics to be studied. We aimed to establish a pediatric rare disease community stakeholder group and empower them in (1) eliciting perspectives from affected families in the wider region and (2) synthesizing collective ideas into a research agenda focused on shared ethical, legal, and social implications (ELSI) across rare disease. METHODS: This two-year project utilized a community-centered approach to engage rare disease community members as equal partners in developing a research agenda for ELSI in rare disease. We established "Rare Voices" (RV), a 22-member stakeholder group of patients, parents, clinicians and researchers. Following capacity-building trainings, RV designed and conducted listening sessions with teen patients and parents of children with rare diseases to explore challenges, positive experiences, and ethical concerns. Listening session findings were synthesized and contextualized into research topics, which RV members further refined and prioritized. We used established measures to assess RV member engagement and satisfaction. RESULTS: From 14 listening sessions with parents (n = 52) and teen patients (n = 13), RV identified eight core research topics as most important for future rare disease research: coordinating care, communication, accessing resources and care, impact on family unit, community and support in society, mental health and identity, ethical aspects of care, and uncertainty. RV members were highly engaged throughout the two-year project and reported high levels of satisfaction with the experience and research agenda. CONCLUSIONS: Through capacity-building and authentic engagement, this project resulted in a community-led rare disease research agenda to guide future rare disease ELSI research that aligns with patients' and families' priorities. An environment of equal partnership and respect created a space for mutual learning where community members were empowered to shape the research agenda based on their collective experiences. The agenda recognizes the shared psychosocial and healthcare experiences of rare disease and offers practical areas of research to address patient and family needs.

Body Movement Is Associated With Orgasm During Vaginal Intercourse in Women.

Very few studies have investigated the relationship between women's ability to experience an orgasm during vaginal intercourse and specific stimulation techniques. We examined two common techniques during vaginal intercourse both with and without simultaneous external clitoral stimulation: (1) body movement, in particular back-and-forth swinging movements of the pelvis and trunk; and (2) precise rubbing of the clitoris with an immobilized body. Structural equation modeling was used to compare the effects of the two stimulation techniques on women's orgasm frequency (N = 1,239). As hypothesized, the frequency of orgasm during vaginal intercourse with simultaneous clitoral stimulation was positively associated with a preference for body movement during arousal. Body movement, as opposed to body immobilization, was also associated with a higher frequency of orgasm during vaginal intercourse without simultaneous clitoral stimulation. We conclude that body movement is associated with more orgasms during vaginal intercourse, whereas precise rubbing of the clitoris with an immobilized body is not associated with more orgasms. Teaching women to move their pelvis and trunk in a swinging back-and-forth movement during vaginal intercourse might therefore facilitate reaching an orgasm, whereas encouraging them to self-stimulate the clitoris might be less helpful if done with an immobilized body.

Cystic Fibrosis Foundation Pulmonary Guidelines. Use of Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy in Patients with Cystic Fibrosis.

RATIONALE: Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulators are a new class of medications targeting the underlying defect in CF. Ivacaftor (IVA) and IVA combined with lumacaftor (LUM; IVA/LUM) have been approved by the U.S. Food and Drug Administration (FDA) for use in patients with CF. However, the FDA label for these medications encompasses patient groups that were not studied as part of the drug approval process. CF clinicians, patients, and their families have recognized a need for recommendations to guide the use of these medications. OBJECTIVE: Develop evidence-based guidelines for CFTR modulator therapy in patients with CF. METHODS: A multidisciplinary committee of CF caregivers and patient representatives was assembled. A methodologist, an epidemiologist, a medical librarian, and a biostatistician were recruited to assist with the literature search, evidence grading, and generation of recommendations. The committee developed clinical questions using the Patient-Intervention-Comparison-Outcome format. A systematic review was conducted to find relevant publications. The evidence was then evaluated using the GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) approach, and recommendations were made based on this analysis. RESULTS: For adults and children aged 6 years and older with CF due to gating mutations other than G551D or R117H, the guideline panel made a conditional recommendation for treatment with IVA. For those with the R117H mutation, the guideline panel made a conditional recommendation for treatment with IVA for 1) adults aged 18 years or older, and 2) children aged 6-17 years with a forced expiratory volume in 1 second (FEV1) less than 90% predicted. For those with the R117H mutation, the guideline panel made a conditional recommendation against treatment with IVA for 1) children aged 12-17 years with an FEV1 greater than 90% predicted, and 2) children less than 6 years of age. Among those with two copies of F508del, the guideline panel made a strong recommendation for treatment with IVA/LUM for adults and children aged 12 years and older with an FEV1 less than 90% predicted; and made a conditional recommendation for treatment with IVA/LUM for 1) adults and children aged 12 years or older with an FEV1 greater than 90% predicted, and 2) children aged 6-11 years. CONCLUSIONS: Using the GRADE approach, we have made recommendations for the use of CFTR modulators in patients with CF. These recommendations will be of help to CF clinicians, patients, and their families in guiding decisions regarding use of these medications.

Recognizing obesity and its complications: the story of Score 1 for Health.

This introductory article on the comorbidities of obesity in children is an overview and the first in a series of articles on the subject. One in three of our nation's school-age children is overweight or obese. The comorbidities they experience mirror those seen in adults, with over 60% of children having at least one complication. Virtually any body system may be affected. Complications include weight-related bullying and teasing, poor sleep hygiene, well-studied cardiovascular disease risk factors, liver disease, and musculoskeletal complications, to name a few. The article will further explore an exemplary program highlighting the important role that school nurses play in this child and adolescent health crisis.

Ocular problems in low-income and minority children.

PURPOSE: To report the prevalence rates of screen failures for uncorrected refractive error, abnormal or excessive levels of hyperopia, problems in binocular vision, and deficiency of near point acuity as related to age and ethnicity in children. METHODS: Vision screening tests were administered to 9,743 African-American, Hispanic, and white children aged 6 to 11 years in the Kansas City (United States) metropolitan area. Screening was performed by health professions students using HOTV charts for refractive errors, hyperopia, and near point acuity and a Random Dot E test for binocular vision. Children were screened in their elementary schools, located in primarily poor, urban neighborhoods. The main outcome measure was pass/fail outcomes from screenings, with confirmation of screen fails by licensed health care professionals. RESULTS: For African-American children, 14.1% failed one or more vision screening tests. The corresponding screen failure rates for Hispanic and white children were 14.2% and 11.0%, respectively. There were significant differences in screening failure rates as a function of age and ethnicity, depending on the specific test. The highest rates of screen failures occurred in the 9 to 11 year old age range. CONCLUSIONS: Vision screening failures were frequently associated with age and ethnicity. Screening performed by health professions students can successfully identify potential visual problems at rates similar to those reported in studies using more complex, sophisticated testing performed by specially trained individuals.

The prevalence of infections with Trichophyton tonsurans in schoolchildren: the CAPITIS study.

BACKGROUND: Although Trichophyton tonsurans has become the leading cause of tinea capitis in the United States, reported infection rates vary widely, and prevalence estimates for the pediatric population at large remain poorly characterized. METHODS: A prospective, cross-sectional, surveillance study of children attending kindergarten through fifth grade in 44 schools across the bi-state (Kansas/Missouri), Kansas City metropolitan area was conducted. Fungal cultures were collected from all participants, and molecular analyses were used to characterize the patterns of infection within the population. RESULTS: Of 10,514 children (age: 8.3 +/- 1.9 years) examined for the presence of T tonsurans on their scalps, 6.6% exhibited positive cultures. Infection rates at participating schools ranged from 0% to 19.4%, exceeding 30% at a given grade level in some schools. Black children demonstrated the highest rates of infection (12.9%), with prevalence estimates for the youngest members of this racial group approaching 18%. Infection rates for Hispanic (1.6%) and white (1.1%) children were markedly lower. A single genetic strain of T tonsurans was identified in only 16.6% of classrooms, whereas each child harbored a unique genetic strain in 51.4%. CONCLUSIONS: We report a large-scale, citywide, surveillance study of T tonsurans infection rates among children in primary school in a metropolitan area. The striking prevalence rates and genetic heterogeneity among the fungal isolates confirm the relatively large degree to which this pathogen has become integrated into metropolitan communities.