Author Correction: The Anglo-Saxon migration and the formation of the early English gene pool.

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The Anglo-Saxon migration and the formation of the early English gene pool.

The history of the British Isles and Ireland is characterized by multiple periods of major cultural change, including the influential transformation after the end of Roman rule, which precipitated shifts in language, settlement patterns and material culture1. The extent to which migration from continental Europe mediated these transitions is a matter of long-standing debate2-4. Here we study genome-wide ancient DNA from 460 medieval northwestern Europeans-including 278 individuals from England-alongside archaeological data, to infer contemporary population dynamics. We identify a substantial increase of continental northern European ancestry in early medieval England, which is closely related to the early medieval and present-day inhabitants of Germany and Denmark, implying large-scale substantial migration across the North Sea into Britain during the Early Middle Ages. As a result, the individuals who we analysed from eastern England derived up to 76% of their ancestry from the continental North Sea zone, albeit with substantial regional variation and heterogeneity within sites. We show that women with immigrant ancestry were more often furnished with grave goods than women with local ancestry, whereas men with weapons were as likely not to be of immigrant ancestry. A comparison with present-day Britain indicates that subsequent demographic events reduced the fraction of continental northern European ancestry while introducing further ancestry components into the English gene pool, including substantial southwestern European ancestry most closely related to that seen in Iron Age France5,6

The Anglo-Saxon migration and the formation of the early English gene pool

The history of the British Isles and Ireland is characterized by multiple periods of major cultural change, including the influential transformation after the end of Roman rule, which precipitated shifts in language, settlement patterns and material culture1. The extent to which migration from continental Europe mediated these transitions is a matter of long-standing debate2,3,4. Here we study genome-wide ancient DNA from 460 medieval northwestern Europeans—including 278 individuals from England—alongside archaeological data, to infer contemporary population dynamics. We identify a substantial increase of continental northern European ancestry in early medieval England, which is closely related to the early medieval and present-day inhabitants of Germany and Denmark, implying large-scale substantial migration across the North Sea into Britain during the Early Middle Ages. As a result, the individuals who we analysed from eastern England derived up to 76% of their ancestry from the continental North Sea zone, albeit with substantial regional variation and heterogeneity within sites. We show that women with immigrant ancestry were more often furnished with grave goods than women with local ancestry, whereas men with weapons were as likely not to be of immigrant ancestry. A comparison with present-day Britain indicates that subsequent demographic events reduced the fraction of continental northern European ancestry while introducing further ancestry components into the English gene pool, including substantial southwestern European ancestry most closely related to that seen in Iron Age France5,6

Medikamenteneinnahme optimieren bei Patienten mit chronischen Lebererkrankungen

HINTERGRUND: Non-Adhärenz bei Patient(inn)en mit chronischen Lebererkrankungen kann zu einer Krankheitsverschlechterung führen und sogar tödliche Folgen haben. Zugleich verursacht mangelnde Medikamentenadhärenz enorme Kosten. Es ist bekannt, dass Angehörige die Einnahme von Medikamenten positiv beeinflussen können. ZIEL: Ziel der vorliegenden Projektarbeit war, für das Akutspital-Setting eine Arbeitsanweisung zu erstellen, welche die Medikamentenadhärenz bei dieser Patientengruppe regelt und Angehörige miteinbezieht. METHODE: Das Projektteam orientierte sich an den Prinzipien der partizipatorischen Aktionsforschung. Eine systematische Literaturrecherche diente dazu, adhärenzfördernde Interventionen zu identifizieren und zu beurteilen. ERGEBNISSE: Auf der Grundlage von Forschungsergebnissen, Patientenerfahrungen aus der Literatur, pflegerischer Expertise und unter Berücksichtigung des lokalen Kontextes entstand eine Arbeitsanweisung, die folgende Interventionen enthält: Bedürfnisgerechtes Informieren von Patient(inn)en und Angehörigen, Aufbau einer tragfähigen Beziehung der Betroffenen und Angehörigen zum Fachpersonal, gelingende Kommunikation, Erinnerungshilfen und Integration der Medikamenteneinnahme in den Alltag. SCHLUSSFOLGERUNGEN: Die Arbeitsanweisung dient dazu, diese Interventionen im Spitalalltag einzusetzen, um eine optimale Adhärenz zu gewährleisten. [English Abstract:] Non-adherence in patients with chronic liver disease is a problem resulting in various consequences ranging from disease deterioration to death. Insufficient medication adherence leads to enormous health care costs. Family caregivers can essentially contribute to improving adherence. The aim of this project was to develop a work instruction specifically dedicated to optimize adherence in this patient group and their family caregivers. The project team utilized the principles of participatory action research. A systematic literature research aimed at identifying interventions for improving medication adherence in patients with chronic liver disease. Findings of patient experiences from literature as well as clinical experience of nurses were evaluated for their practicability in the local context. Research revealed that information for patients and family caregivers, supportive relationships with health care professionals, helpful communication, the use of memory aids and integration of medication intake into everyday life were the most helpful adherence-enhancing interventions. The work instruction serves to integrate these interventions into clinical practice in order to ensure optimal medication adherence

The Quality of Nurses' Work Environment and Workforce Outcomes From the Perspective of Swiss Allied Healthcare Assistants and Registered Nurses: A Cross-Sectional Survey

Anticipating nursing shortages, the Swiss healthcare system recently introduced the position of allied healthcare assistant (AHA). However, indicators of AHAs' integration and stability, particularly their perceptions of their work environment quality and related outcomes (i.e., burnout, job satisfaction, and intention to leave), remain unclear.; (a) To describe AHAs' ratings of the quality of the nurse work environment, job satisfaction, burnout, and intention to leave their workplaces; (b) to compare AHAs' and registered nurses' (RNs') work environment quality ratings and related outcomes; and (c) to assess links between AHAs' work environment quality ratings and related workforce outcomes.; A secondary analysis of RN4CAST data (October 2009 to June 2010) on 61 AHAs and 466 RNs in 13 Swiss acute care hospitals.; We used descriptive statistics to summarize data of AHAs and RNs on their units and hospitals. Via binary logistic regression models, we compared AHAs and RNs and identified associations between work environment ratings and workforce outcomes.; AHAs' work environment quality ratings were significantly higher than those of RNs, and were associated with lower odds of burnout and intention to leave their current job and higher odds of reported job satisfaction.; This study provides primary evidence linking AHAs' work environment quality ratings to burnout, job satisfaction, and intention to leave in acute care hospitals.; Given the increasing importance of AHAs for nursing care provision, hospitals should assess the quality of nurse work environment and nurse outcomes from the perspective of all nurses

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

BackgroundThe acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. MethodsTo detect further causative CNVs we performed array based molecular karyotyping in 75 VATER/VACTERL and 40 VATER/VACTERL-like patients. ResultsFollowing the application of stringent filter criteria, we identified 13 microdeletions and seven microduplications in 20 unrelated patients all of which were absent in 1,307 healthy inhouse controls (n < 0.0008). Among these, microdeletion at 17q12 was confirmed to be de novo. Three microdeletions at 5q23.1, 16q23.3, 22q11.21, and one microduplication at 10q11.21 were all absent in the available parent. Microdeletion of chromosomal region 22q11.21 was previously found in VATER/VACTERL patients rendering it to be causative in our patient. The remaining 15 CNVs were inherited from a healthy parent. ConclusionIn two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. (c) 2017 Wiley Periodicals, Inc

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

BackgroundThe acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. MethodsTo detect further causative CNVs we performed array based molecular karyotyping in 75 VATER/VACTERL and 40 VATER/VACTERL-like patients. ResultsFollowing the application of stringent filter criteria, we identified 13 microdeletions and seven microduplications in 20 unrelated patients all of which were absent in 1,307 healthy inhouse controls (n < 0.0008). Among these, microdeletion at 17q12 was confirmed to be de novo. Three microdeletions at 5q23.1, 16q23.3, 22q11.21, and one microduplication at 10q11.21 were all absent in the available parent. Microdeletion of chromosomal region 22q11.21 was previously found in VATER/VACTERL patients rendering it to be causative in our patient. The remaining 15 CNVs were inherited from a healthy parent. ConclusionIn two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. (c) 2017 Wiley Periodicals, Inc

Human exome and mouse embryonic expression data implicateZFHX3,TRPS1, andCHD7in human esophageal atresia

Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutationalde novoevents in genes involved in foregut development. Methods To identify mutationalde novoevents in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmedde novovariants were prioritized usingin silicoprediction tools. To investigate the embryonic role of genes harboring prioritizedde novovariants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. Results In total we prioritized 14 novelde novovariants in 14 different genes (APOL2,EEF1D,CHD7,FANCB,GGT6,KIAA0556,NFX1,NPR2,PIGC,SLC5A2,TANC2,TRPS1,UBA3, andZFHX3) and eight rarede novovariants in eight additional genes (CELSR1,CLP1,GPR133,HPS3,MTA3,PLEC,STAB1, andPPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rarede novovariant inZFHX3.In silicoprediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritizedCHD7,TRPS1, andZFHX3as EA/TEF candidate genes. Re-sequencing ofZFHX3in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. Conclusion Our study suggests that rare mutationalde novoevents in genes involved in foregut development contribute to the development of EA/TEF

Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia

Introduction: Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods: To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we performed targeted analysis of mouse transcriptome data of esophageal tissue obtained at the embryonic day (E) E8.5, E12.5, and postnatal. Results: In total we prioritized 14 novel de novo variants in 14 different genes (APOL2, EEF1D, CHD7, FANCB, GGT6, KIAA0556, NFX1, NPR2, PIGC, SLC5A2, TANC2, TRPS1, UBA3, and ZFHX3) and eight rare de novo variants in eight additional genes (CELSR1, CLP1, GPR133, HPS3, MTA3, PLEC, STAB1, and PPIP5K2). Through personal communication during the project, we identified an additional EA/TEF case-parent trio with a rare de novo variant in ZFHX3. In silico prediction analysis of the identified variants and comparative analysis of mouse transcriptome data of esophageal tissue obtained at E8.5, E12.5, and postnatal prioritized CHD7, TRPS1, and ZFHX3 as EA/TEF candidate genes. Re-sequencing of ZFHX3 in additional 192 EA/TEF patients did not identify further putative EA/TEF-associated variants. Conclusion: Our study suggests that rare mutational de novo events in genes involved in foregut development contribute to the development of EA/TEF