Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed.

Creating Virtuous Cycles for DNA Barcoding: A Case Study in Science Innovation, Entrepreneurship, and Diplomacy.

This chapter on the history of the DNA barcoding enterprise attempts to set the stage for the more scholarly contributions in this volume by addressing the following questions. How did the DNA barcoding enterprise begin? What were its goals, how did it develop, and to what degree are its goals being realized? We have taken a keen interest in the barcoding movement and its relationship to taxonomy, collections, and biodiversity informatics more broadly considered. This chapter integrates our two different perspectives on barcoding.

Homelessness and associated factors over a 13-year period among psychiatric in-patients in Berlin, Germany: routine data analysis.

Background: Homeless patients in psychiatric hospitals are a scarcely studied and there is lack of knowledge about factors associated with homelessness and in-patient treatment.

Aims: To determine the change over time in the number of homeless psychiatric in-patients and to examine factors associated with homelessness.

Method: Retrospective data analysis of 1205 selected electronic patient files on psychiatric in-patient treatment in a university psychiatric hospital in Berlin, Germany.

Use of digital technologies by users of psychiatric inpatient services in Berlin, Germany: a cross-sectional patient survey.

Unlabelled: Few studies and almost exclusively from the USA have recently investigated mobile phone and computer use among users of psychiatric services, which is of high relevance regarding the increasing development of digital health applications and services.

Objective, Design And Setting: In a cross-sectional patient survey, we examined (a) rates and purposes of mobile phone, computer, internet and social media use, and (b) the role of social and clinical predictors on rates of utilisation among psychiatric inpatients in Berlin, Germany.

Participants And Results: Descriptive analyses showed that among 496 participants, 84.

Associations among navigational support and health care utilization and costs in patients with advanced cancer: An analysis based on administrative health insurance data.

Background: Fragmented and complex healthcare systems make it difficult to provide continuity of care for patients with advanced cancer near the end of life. Nurse-based cross-sectoral navigation support has the potential to increase patients' quality of life. The objective of this paper was to evaluate associations between navigation support and health care utilization, and the associated costs of care.

The Abdominal Pain Unit (APU). Study protocol of a standardized and structured care pathway for patients with atraumatic abdominal pain in the emergency department: A stepped wedged cluster randomized controlled trial.

This study aims to improve emergency department (ED) care for patients suffering from atraumatic abdominal pain. An application-supported pathway for the ED will be implemented, which supports quick, evidence-based, and standardized diagnosis and treatment steps for patients with atraumatic abdominal pain at the ED. A mixed-methods multicentre cluster randomized controlled stepped wedge trial design will be applied.

Erratum: Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

[This corrects the article DOI: 10.1016/j.xhgg.

Development of a patient-oriented navigation model for patients with lung cancer and stroke in Germany.

Background: The concept of patient navigation was first established in the USA to support vulnerable patient groups in receiving timely and comprehensive access to cancer care. It has recently gained increasing interest in Germany to support patients with chronic diseases in a fragmented healthcare system. The aim of this paper is to present the development of such a model adapted to the German context based on the results of mixed-methods studies investigating the need for and barriers to patient-oriented care.

Identifying and handling unbalanced baseline characteristics in a non-randomized, controlled, multicenter social care nurse intervention study for patients in advanced stages of cancer.

Purpose: Given the psychosocial burdens patients in advanced stages of cancer face, innovative care concepts are needed. At the same time, such vulnerable patient groups are difficult to reach for participation in intervention studies and randomized patient inclusion may not be feasible. This article aims to identify systematic biases respectively selection effects occurring during the recruitment phase and to discuss their potential causes based on a non-randomized, multicenter intervention study with patients in advanced stages of cancer.

Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.

Esophageal atresias/tracheoesophageal fistulas (EA/TEF) are rare congenital anomalies caused by aberrant development of the foregut. Previous studies indicate that rare or genetic variants significantly contribute to EA/TEF risk, and most individuals with EA/TEF do not have pathogenic genetic variants in established risk genes. To identify the genetic contributions to EA/TEF, we performed whole genome sequencing of 185 trios (probands and parents) with EA/TEF, including 59 isolated and 126 complex cases with additional congenital anomalies and/or neurodevelopmental disorders.

Being small for gestational age is not an independent risk factor for mortality in neonates with congenital diaphragmatic hernia: a multicenter study.

Background: Congenital diaphragmatic hernia (CDH) accounts for 8% of all major congenital anomalies. Neonates who are small for gestational age (SGA) generally have a poorer prognosis. We sought to identify risk factors and variables associated with outcomes in neonates with CDH who are SGA in comparison to neonates who are appropriate for gestational age (AGA).

Guideline adherence in speech and language therapy in stroke aftercare. A health insurance claims data analysis.

Background: Impairments to comprehension and production of speech (aphasia, dysarthria) and swallowing disorders (dysphagia) are common sequelae of stroke, reducing patients' quality of life and social participation. Treatment oriented on evidence-based guidelines seems likely to improve outcomes. Currently, little is known about guideline adherence in stroke aftercare for the above-mentioned sequelae.

Twin-twin transfusion syndrome complicated by single ventricle physiology: A case report.

Clinically significant extrauterine twin-twin transfusion syndrome in conjoined twins is rare and carries a high risk of perinatal mortality. The ensuing postnatal imbalance in circulation across connecting vessels results in hypovolemia in the donor and hypervolemia in the recipient. Data on management and treatment are sparse especially in the setting of a single ventricle congenital heart defect.

Characteristics and patient-reported outcomes associated with dropout in severely affected oncological patients: an exploratory study.

Background: Patient-reported outcome measures (PROMs) are commonly-used surrogates for clinical outcomes in cancer research. When researching severe diseases such as cancer, it is difficult to avoid the problem of incomplete questionnaires from drop-outs or missing data from patients who pass away during the observation period. The aim of this exploratory study was to explore patient characteristics and the patient-reported outcomes associated with the time-to-dropout.

Fetal liver and lung volume index of neonatal survival with congenital diaphragmatic hernia.

Background: Magnetic resonance imaging (MRI) assesses pulmonary hypoplasia in fetal congenital diaphragmatic hernia (CDH). Neonatal mortality may occur with CDH.

Objective: To quantify MRI parameters associated with neonatal survival in fetuses with isolated CDH.

A retrospective analysis of the health and social situation of homeless people in Berlin: study protocol.

Background: Homelessness is often described as both a driver and a consequence of poor health, social exclusion and economic marginalisation. The present protocol provides a detailed description of the study Examining the health situation of homeless people in Berlin: a retrospective analysis of data from the health centre for the homeless of the Jenny De la Torre Foundation from 2006 to 2020 (GIG study). The primary objective of the GIG study is to describe and analyse the social and health situation of homeless people in Berlin.

[Somatic diseases of homeless people in Germany. A narrative literature review for the years 2009-2019].

Background: According to estimates, between 337,000 and 650,000 people in Germany live without a permanent residence. They are highly deprived in terms of health. Studies on the health situation are rare and methodologically heterogeneous.

Establishment of a multidisciplinary fetal center streamlines approach for congenital lung malformations.

Purpose: Fetuses with a diagnosis of congenital lung malformations (CLM) on prenatal imaging are commonly referred to a multi-disciplinary specialty team for prenatal assessment and postnatal management. The net effect of such services is broadly stated to improve the outcomes of affected newborns. However, these claims are relatively unsubstantiated.

Impact of Additional Anomalies on Postnatal Outcomes in Congenital Lung Malformations.

Background: Approximately 20% of fetuses diagnosed with congenital lung malformations (CLMs) are found to have additional anomalies. We aim to determine if additional anomalies have an impact on postnatal outcomes for patients with CLMs.

Methods: After institutional review board approval, we performed a retrospective review of live-born patients with CLMs from 2008 to 2018.

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Purpose: Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes.

Methods: We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify de novo variants.

Negative-Pressure Vacuum Therapy for High-Output Chyle Leak Following Neck Dissection.

Chyle fistula is a challenging complication following neck dissection carrying a high morbidity and mortality rate. Herein we present a challenging case of successful management of high-output left-sided cervical chyle fistula with negative-pressure vacuum (VAC) therapy in a case where all conservative treatments failed. A 40-year-old man with lymphoma and supraglottic carcinoma underwent endoscopic resection and bilateral neck dissections.

Physician-Estimated Depth as a Screening Tool for Computed Tomography Evaluation of Pectus Excavatum.

Background: Pectus excavatum (PE) is the most common congenital chest wall anomaly with a reported incidence of 1/300 to 1/400 live births and a male predominance. Preoperative evaluation of defect severity typically requires a calculation of the Haller index (HI) and/or correction index (CI) using computed tomography (CT) or x-rays. The purpose of this study was to determine whether physician-estimated depth (PED), a bedside screening tool, could be used to identify a subset of pediatric patients in whom CT was unnecessary.