A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency and sometimes glaucoma. We mapped a new locus responsible for PPCD in a family in which we excluded the previously reported PPCD locus on 20q11, and the region containing COL8A2 on chromosome 1. Results of a 317-marker genome scan provided significant evidence of linkage of PPCD to markers on chromosome 10, with single-point LOD scores of 2.63, 1.63, and 3.19 for markers D10S208 (at (circumflex)theta = 0.03), D10S1780 (at (circumflex)theta = 0.00), and D10S578 (at (circumflex)theta = 0.06). A maximum multi-point LOD score of 4.35 was found at marker D10S1780. Affected family members shared a haplotype in an 8.55 cM critical interval that was bounded by markers D10S213 and D10S578. Our finding of another PPCD locus, PPCD3, on chromosome 10 indicates that PPCD is genetically heterogeneous. Guttae, a common corneal finding sometimes observed along with PPCD, were found among both affected and unaffected members of the proband's sib ship, but were absent in the younger generations of the family. Evaluation of phenotypic differences between family members sharing the same affected haplotype raises questions about whether differences in disease severity, including differences in response to surgical interventions, could be due to genetic background or other factors independent of the PPCD3 locus.     

Identifying undiagnosed diabetes: cross-sectional survey of 3.6 million patients' electronic records.

BACKGROUND: Around 1% of the UK population has diabetes that is either undiagnosed or unrecorded on practice disease registers. AIM: To estimate the number of people in UK primary care databases with biochemical evidence of undiagnosed diabetes. To develop simple practice-based search techniques to support early recognition of diabetes. DESIGN OF STUDY: Cross-sectional survey of 3 630 296 electronic records. SETTING: Four hundred and eighty UK practices contributing to the QRESEARCH database. METHOD: Electronic searches to identify people with no diabetes diagnosis in one of two categories (A and B), using the most recently recorded blood glucose measurement: random blood glucose level >or=11.1 mmol/l or fasting blood glucose level >or=7.0 mmol/l (A); either a random or a fasting blood glucose level >or=7.0 mmol/l (B). An additional outcome measure was the proportion of the population with at least one blood glucose measurement in the record. RESULTS: The number (percentage) identified in category A was 3758 (0.10% of the total population); the number in category B was 32 785 (0.90%). Projected to a practice of 7000 patients, around eight patients have biochemical evidence of undiagnosed diabetes, and 68 have results suggesting the need for further follow-up. One-third of people aged over 40 years without diabetes have a blood glucose measurement in the past 2 years in their record. CONCLUSION: People with possible undiagnosed diabetes are readily identifiable in UK primary care databases through electronic searches using blood glucose data. People with borderline levels, who may benefit from interventions to reduce their risk of progression to diabetes, can also be identified using practice-based software.     

Associations between interpersonal violence victimisation and concussions among US college students

Interpersonal violence is common on college campuses and is associated with many adverse health outcomes; however, it remains unknown whether experiencing interpersonal violence victimisation is associated with concussions. The aim of this study was to estimate the associations between interpersonal violence, including emotional abuse, physical abuse and sexual assault, and concussions among a large, diverse sample of college students. We analysed cross-sectional data from the 2018–2019 national (US) Healthy Minds Study (N = 1,478). Multiple logistic regression analyses were conducted to estimate the association between interpersonal violence victimisation (any violence victimisation, emotional abuse, physical abuse and sexual assault) and concussion history (any concussion, diagnosed concussion and undiagnosed concussion), while adjusting for potential confounders. Analyses were conducted among the overall sample and separately by male and female participants. Results showed patterns of significant associations between interpersonal violence victimisation and concussions among the overall sample and among male and female participants. Among the overall sample, any interpersonal violence victimisation (adjusted odds ratio [AOR] 1.45, 95% confidence interval [CI] 1.13–1.88), emotional abuse (AOR 1.36, 95% CI 1.06–1.76), physical abuse (AOR 1.61, 95% CI 1.07–2.44) and sexual assault (AOR 2.17, 95% CI 1.44–3.26) were associated with higher odds of any concussion history. Sexual assault victimisation had the strongest association with any concussion history among male (AOR 1.96, 95% CI 1.04–3.71) and female (AOR 2.96, 95% CI 1.62–5.43) participants. These results expand on prior interpersonal violence and concussion research by showing an association with multiple victimisation measures among a large and diverse sample of college students. Medical professionals should screen for concussions among college students who experience emotional abuse, physical abuse and sexual assault to provide appropriate guidance. Information on the symptoms of concussions should be incorporated into campus violence awareness and prevention efforts.     

Confirmed Cases of Ophidiomycosis in Museum Specimens from as Early as 1945, United States

Ophidiomycosis represents a conservation threat to wild snake populations. The disease was reported in North America early in the 21st century, but the history of ophidiomycosis has not been investigated. We examined museum specimens and confirmed cases of ophidiomycosis >50 years before the disease’s reported emergence.     

The Development of a Multilevel Intervention to Optimise Participant Engagement with an Obesity Prevention Programme Delivered in UK children’s Centres

Prevention Science - Poor participant engagement threatens the potential impact and cost-effectiveness of public health programmes preventing meaningful evaluation and wider application. Although...     

Neonates as intrinsically worthy recipients of pain management in neonatal intensive care

One barrier to optimal pain management in the neonatal intensive care unit (NICU) is how the healthcare community perceives, and therefore manages, neonatal pain. In this paper, we emphasise that healthcare professionals not only have a professional obligation to care for neonates in the NICU, but that these patients are intrinsically worthy of care. We discuss the conditions that make neonates worthy recipients of pain management by highlighting how neonates are (1) vulnerable to pain and harm, and (2) completely dependent on others for pain management. We argue for a relational account of ethical decision-making in the NICU by demonstrating how an increase in vulnerability and dependence may be experienced by the healthcare community and the neonate’s family. Finally, an ethical framework for decisions around neonatal pain management is proposed, focussing on surrogate decision-making and the importance of compassionate action through both a reflective and an affective empathy. As empathy can be highly motivating against pain, we propose that, in addition to educational programs that raise awareness and knowledge of neonatal pain and pain management, healthcare professionals must cultivate empathy in a collective manner, where all members of the NICU team, including parents, are compassionate decision-makers.

     

Digitale Gesundheitsanwendungen (DiGA) in der ärztlichen und psychotherapeutischen Versorgung. Chancen und Herausforderungen aus Sicht der Leistungserbringer

Bundesgesundheitsblatt - Gesundheitsforschung - Gesundheitsschutz - Versicherte haben seit 2019 einen gesetzlichen Anspruch auf Verordnung von digitalen Gesundheitsanwendungen (DiGA). Die...     

Adverse Childhood Experiences and Pregnancy Intentions among Pregnant Women Seeking Prenatal Care

BackgroundThis study examined whether adverse childhood experiences (ACEs) are associated with increased risk of having an unwanted or mistimed pregnancy.MethodsWomen in two medical centers within an integrated health system were screened for ACEs during standard prenatal care (N = 745). Multinomial multivariable logistic regression analyses examined the associations of ACEs (count and type) with pregnancy intentions, adjusting for covariates.ResultsOverall, 58.3% of pregnant women reported no ACEs, 19.1% reported one ACE, and 22.7% reported two or more ACEs; 76.2% reported wanting to get pregnant, 18.5% reported wanting to get pregnant but not at this time (i.e., mistimed pregnancy), and 5.2% reported not wanting to get pregnant at all (i.e., unwanted pregnancy). Having two or more (vs. 0) ACEs was associated with higher odds of an unwanted pregnancy (odds ratio, 2.60; 95% confidence interval, 1.19–5.68). Further, childhood loss of parent (odds ratio, 2.20; 95% confidence interval, 1.03–4.71) and neglect (odds ratio, 5.67; 95% confidence interval, 1.72–18.72) were each associated with higher odds of an unwanted pregnancy in separate analyses. ACEs count and type were not significantly associated with having a mistimed pregnancy.ConclusionsAmong women screened for ACEs during standard prenatal care, ACEs were associated with increased odds of having an unwanted pregnancy, but not a mistimed pregnancy. Additional research is needed to better understand the mechanisms through which ACEs and other individual, social, and contextual factors impact pregnancy intentions to better support women and provide appropriate resources to help prevent unintended pregnancies.     

Latinx Immigrants’ Legal Concerns About SARS-CoV-2 Testing and COVID-19 Diagnosis and Treatment

Journal of Immigrant and Minority Health - Immigration concerns can deter immigrants from utilizing healthcare services. We examined Latinx immigrants’ immigration concerns related to...