Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry:EB more common than previously assumed?

Background Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well-characterized cohorts. Objectives To evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well-characterized cohort in the Dutch EB Registry. Methods In this observational study all EB-patients that were based in the Netherlands and captured in the Dutch EB Registry between 1988 and 2018 were included. The epidemiological outcomes were based on complete diagnostic data (clinical features, immunofluorescence, electron microscopy and mutation analysis), with longitudinal follow-up. Results A total of 464 EB-patients (287 families) were included. The incidence and point-prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB) and Kindler EB were diagnosed in 45.7%, 18.8%, 34.7% and 0.9% of the EB-patients, respectively, with an incidence and point-prevalence of 17.5 and 11.9 (EBS), 9.3 and 2.1 (JEB), 14.1 and 8.3 (DEB), 0.5 and 0.2 (Kindler EB). In 90.5% of the EB-patients the diagnosis was genetically confirmed. During the investigated time period 73 EB-patients died, 72.6% of whom as a direct consequence of their EB. Conclusion The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well-organized set-up, indicating that EB might be more common than previously assumed. These epidemiological data help to understand the extensive need for (specialized) medical care of EB-patients and is invaluable for the design and execution of therapeutic trials. This study emphasizes the importance of thorough reporting systems and registries worldwide

Small Big Data: Using multiple data-sets to explore unfolding social and economic change

Bold approaches to data collection and large-scale quantitative advances have long been a preoccupation for social science researchers. In this commentary we further debate over the use of large-scale survey data and official statistics with ‘Big Data’ methodologists, and emphasise the ability of these resources to incorporate the essential social and cultural heredity that is intrinsic to the human sciences. In doing so, we introduce a series of new data-sets that integrate approximately 30 years of survey data on victimisation, fear of crime and disorder and social attitudes with indicators of socio-economic conditions and policy outcomes in Britain. The data-sets that we outline below do not conform to typical conceptions of ‘Big Data’. But, we would contend, they are ‘big’ in terms of the volume, variety and complexity of data which has been collated (and to which additional data can be linked) and ‘big’ also in that they allow us to explore key questions pertaining to how social and economic policy change at the national level alters the attitudes and experiences of citizens. Importantly, they are also ‘small’ in the sense that the task of rendering the data usable, linking it and decoding it, required both manual processing and tacit knowledge of the context of the data and intentions of its creators

A qualitative study of the experiences and expectations of women receiving in-patient postnatal care in one English maternity unit

Background Studies consistently highlight in-patient postnatal care as the area of maternity care women are least satisfied with. As part of a quality improvement study to promote a continuum of care from the birthing room to discharge home from hospital, we explored women’s expectations and experiences of current inpatient care. Methods For this part of the study, qualitative data from semi-structured interviews were transcribed and analysed using content analyses to identify issues and concepts. Women were recruited from two postnatal wards in one large maternity unit in the South of England, with around 6,000 births a year. Results Twenty women, who had a vaginal or caesarean birth, were interviewed on the postnatal ward. Identified themes included; the impact of the ward environment; the impact of the attitude of staff; quality and level of support for breastfeeding; unmet information needs; and women’s low expectations of hospital based postnatal care. Findings informed revision to the content and planning of in-patient postnatal care, results of which will be reported elsewhere. Conclusions Women’s responses highlighted several areas where changes could be implemented. Staff should be aware that how they inter-act with women could make a difference to care as a positive or negative experience. The lack of support and inconsistent advice on breastfeeding highlights that units need to consider how individual staff communicate information to women. Units need to address how and when information on practical aspects of infant care is provided if women and their partners are to feel confident on the woman’s transfer home from hospital

Exchange Effects in the Invar Hardening: Fe0.65Ni0.35Fe_{0.65}Ni_{0.35} as a test case

An increase of the critical resolved shear stress of Invar alloys (Invar hardening) with a lowering temperature is explained. The effect is caused by a growth of the exchange interaction between dangling $d$-electron states of dislocation cores and paramagnetic obstacles (e.g., Ni atoms in FeNi alloys) which occurs below the Curie temperature. The spins of the two electrons align along the magnetization due to the exchange interaction with the surrounding atoms of the ferromagnetic. The exchange interaction between the dislocations and obstacles is enhanced in Invars due to a strong growth of the magnetic moments of atoms under the action of elastic strains near the dislocation cores. Parameters characterizing the exchange interaction are determined for the case of the Fe$_{0.65}$Ni$_{0.35}$ Invar. The influence of the internal magnetic field on the dislocation detachment from the obstacles is taken into account. The obtained temperature dependence of the critical resolved shear stress in the Fe$_{0.65}$Ni$_{0.35}$ Invar agrees well with the available experimental data. Experiments facilitating a further check of the theoretical model are suggested.Comment: 8 pages, 2 figure

Bacterial Colony Counts During Vaginal Surgery

Objective: To describe the bacterial types and colony counts present before and during vaginal surgery. Methods: A descriptive study was undertaken of patients undergoing vaginal hysterectomy with or without reconstructive pelvic surgery. Aerobic and anaerobic bacterial cultures were obtained immediately before and throughout the surgical cases at preselected time intervals. Standard antimicrobial prophylaxis was administered in all cases. Mean total colony counts and mean anaerobic colony counts were determined by adding all colonies regardless of bacteria type. ‘Contamination’ was defined as ≥ 5000 colony-forming units/ml. Results: A total of 31 patients aged 26 to 82 years (mean age ± SD, 51 ± 15) were included. The highest total and anaerobic colony counts were found at the first intraoperative time interval. On the first set of cultures (30 minutes after the surgical scrub), 52% (16/31) of the surgical fields were contaminated, and at 90 minutes, 41% (12/29) were contaminated. A negligible number of subsequent cultures were contaminated. Conclusions: Any future interventions designed to minimize bacterial colony counts should focus on the first 30 to 90 minutes of surgery

Revising acute care systems and processes to improve breastfeeding and maternal postnatal health: a pre and post intervention study in one English maternity unit

Background Most women in the UK give birth in a hospital labour ward, following which they are transferred to a postnatal ward and discharged home within 24 to 48 hours of the birth. Despite policy and guideline recommendations to support planned, effective postnatal care, national surveys of women’s views of maternity care have consistently found in-patient postnatal care, including support for breastfeeding, is poorly rated. Methods Using a Continuous Quality Improvement approach, routine antenatal, intrapartum and postnatal care systems and processes were revised to support implementation of evidence based postnatal practice. To identify if implementation of a multi-faceted QI intervention impacted on outcomes, data on breastfeeding initiation and duration, maternal health and women’s views of care, were collected in a pre and post intervention longitudinal survey. Primary outcomes included initiation, overall duration and duration of exclusive breastfeeding. Secondary outcomes included maternal morbidity, experiences and satisfaction with care. As most outcomes of interest were measured on a nominal scale, these were compared pre and post intervention using logistic regression. Results Data were obtained on 741/1160 (64%) women at 10 days post-birth and 616 (54%) at 3 months post-birth pre-intervention, and 725/1153 (63%) and 575 (50%) respectively postintervention. Post intervention there were statistically significant differences in the initiation (p = 0.050), duration of any breastfeeding (p = 0.020) and duration of exclusive breastfeeding to 10 days (p = 0.038) and duration of any breastfeeding to three months (p = 0.016). Post intervention, women were less likely to report physical morbidity within the first 10 days of birth, and were more positive about their in-patient care. Conclusions It is possible to improve outcomes of routine in-patient care within current resources through continuous quality improvement

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

This guideline were initiated by DEBRA International; financial support was provided by DEBRA Austria. The generous assistance of Rebecca Bodan, Lisa Brains, Sharon Cassidy and Kelsey Townsend-Miller is gratefully acknowledged in providing patient or lay input into this guideline. The authors acknowledge the guidance of Kattya Mayre-Chilton (DEDRA International). Johann Bauer (Paracelsus University and EB House, Salzburg, Austria), Christine Bodemer (Hôpital Universitaire Necker, Paris, France), Judith Fischer (Institute of Human Genetics, University of Freiburg, Germany), Jemima Mellerio (St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K.), Francis Palisson (Universidad del Desarrollo and DEBRA, Chile), Eli Sprecher (Department of Dermatology, Tel Aviv Sourasky Medical Center, Israel) and Jouni Uitto, Leila Youssefian and Hassan Vahidnezhad (all from the Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.) are acknowledged as reviewers

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethnicities have been reported and all of them harboured a heterozygous KLHL24 start-codon mutation, with c.1A>G;p.Met1? being the most prevalent.1-3 Through this report, we aimed to expand the phenotypic spectrum by incorporating additional findings, in particular, dilated cardiomyopathy, seen in a Dutch family. This article is protected by copyright. All rights reserved