Publications by authors named "Ekkehart Jenetzky"

75 Publications

Sociodemographic Characteristics and Interests of FeverApp Users.

Int J Environ Res Public Health 2021 Mar 18;18(6). Epub 2021 Mar 18.

Faculty of Health, School of Medicine, Witten/Herdecke University, 58448 Witten, Germany.

The FeverApp Registry is a model registry focusing on pediatric fever using a mobile app to collect data and present recommendations. The recorded interactions can clarify the relationship between user documentation and user information. This initial evaluation regarding features of participants and usage intensity of educational video, information library, and documentation of fever events covers the runtime of FeverApp for the first 14 months. Of the 1592 users, the educational opening video was viewed by 41.5%, the Info Library was viewed by 37.5%, and fever events were documented by 55.5%. In the current sample, the role of a mother ( < 0.0090), having a higher level of education ( = 0.0013), or being registered at an earlier date appear to be cues to take note of the training video, Info Library, and to document. The FeverApp was used slightly less by people with a lower level of education or who had a migration background, but at the current stage of recruitment no conclusion can be made. The user analyses presented here are plausible and should be verified with further dissemination of the registry. Ecological momentary assessment is used more than the information option, in line with the task of a registry. Data collection via app seems feasible.
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http://dx.doi.org/10.3390/ijerph18063121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8002853PMC
March 2021

[Corona child studies "Co-Ki": first results of a Germany-wide register on mouth and nose covering (mask) in children].

Monatsschr Kinderheilkd 2021 Feb 22:1-10. Epub 2021 Feb 22.

Fakultät für Gesundheit/Department für Humanmedizin, Universität Witten/Herdecke, Witten/Herdecke, Deutschland.

Background: Narratives about complaints in children and adolescents caused by wearing a mask are accumulating. There is, to date, no registry for side effects of masks.

Methods: In the context of the www.co-ki.de multi-study complex, an online registry has been set up where parents, doctors, pedagogues and others can enter their observations. On 20 October 2020, 363 doctors were asked to make entries and to make parents and teachers aware of the registry.

Results: By 26 October 2020, a total of 20,353 people had taken part in the survey. The group of parents alone entered data on a total of 25,930 children. The average reported wearing time of masks was 270 min per day. Of the respondents 68% reported that children complained about impairments caused by wearing the mask. Side effects included irritability (60%), headache (53%), difficulty concentrating (50%), less happiness (49%), reluctance to go to school/kindergarten (44%), malaise (42%) impaired learning (38%) and drowsiness/fatigue (37%).

Discussion: This world's first registry for recording the effects of wearing masks in children is dedicated to a new research question. A bias with respect to the preferential documentation of particularly severely affected children or persons who are fundamentally critical of protective measures cannot be ruled out.The frequency of use and the spectrum of symptoms registered indicate the importance of the topic and call for representative surveys, randomized controlled trials with various masks and a renewed risk-benefit assessment of mask obligation in the vulnerable group of children.
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http://dx.doi.org/10.1007/s00112-021-01133-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898258PMC
February 2021

Seven-day fasting as a multimodal complex intervention for adults with type 1 diabetes: Feasibility, benefit and safety in a controlled pilot study.

Nutrition 2021 Jan 22;86:111169. Epub 2021 Jan 22.

Medical Theory, Integrative and Anthroposophic Medicine, Faculty of Health, Witten/Herdecke University, Herdecke, Germany.

Objectives: Intermittent as well as prolonged fasting are receiving considerable attention and appear favorable in conditions such as metabolic syndrome, type 2 diabetes, and rheumatic diseases. Fasting for individuals with type 1 diabetes (T1D) is generally considered too risky. However, the ability and possibility to change from carbohydrate- to ketone-based fuel supply might be relevant for individuals with T1D. The aim of this patient-led research was to investigate the feasibility, benefit, and safety of a 7-d multimodal fasting intervention in individuals with T1D.

Methods: This was a non-randomized controlled pilot study, with 20 participants with T1D and 10 without the disease. Data acquisition took place before, after, and 4 mo after the intervention and daily during intervention.

Results: Of the individuals with T1D, 19 finished fasting. A mean β-hydroxybutyrate as representative ketone body increased to 2.8 ± 1.9 mmol/L on day 7; whereas average glucose remained between 4.9 (±1.5) and 7.5 (±2.3) mmol/L (89 ± 27 and 136 ± 40 mg/dL). Mean daily insulin dose was adjusted from 24.4 (3-50) IU on the day before fasting to 7.6 (0-26.7) IU on day 7. Quality of life (WHO-5) normalized from 54 (±4.4) to 68.8 (±15; P = 0.01) after fasting. There was a decrease from before until the follow-up 4 mo later of weight from 77.6 (±20.4) to 76.6 (±20.9) kg (P = 0.023) and for body mass index from 27.68 (±7.04) to 26.74 (±7.15) kg/m (P = 0.008). Diastolic blood pressure increased from 69.75 (±11.41) to 75.74 (±8.42) mm Hg (P = 0.028) and stayed in a healthy range on average. Fasting-related side effects were all temporary, and slightly more prevalent in those with type 1 diabetes compared with the reference group.

Conclusions: This study demonstrated the feasibility, benefits, and safety aspects of a 7-d fast in adults with T1D.
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http://dx.doi.org/10.1016/j.nut.2021.111169DOI Listing
January 2021

[Corona in Children: the Co-Ki Study].

Monatsschr Kinderheilkd 2020 Nov 3:1-6. Epub 2020 Nov 3.

Lehrstuhl für Medizintheorie, Integrative und Anthroposophische Medizin, Universität Witten/Herdecke, Alfred-Herrhausen-Straße 50, 58448 Witten, Deutschland.

Background: In Germany over 80% of children and adolescents are in the ambulatory care of registered pediatricians. These have a specific perspective on the COVID-19 pandemic.

Methods: For this reason, this professional group initiated a central recording of case numbers, individual case descriptions and observations on infections and illnesses with SARS-CoV‑2 (www.co-ki.de).

Results: So far 557 pediatricians have participated. Together they care for ca. 670,000 children. They reported 9803 children who presented as suspected cases. The pediatricians themselves had a clinical suspicion of SARS-CoV‑2 infections in 3654 children. In 7707 children PCR tests were carried out using nose/throat swabs of which 198 (2.6%) were positive. In addition, 731 children were tested for SARS-CoV‑2 antibodies with detection in 82 cases (11.2%). Despite initially positive PCR tests, 47 children had a negative antibody test at least 2 weeks later. Our query as to infections of adults by children yielded only one case, which a telephone enquiry revealed as unlikely.

Discussion: From an outpatient pediatric perspective COVID-19 is rare. There was no convincing evidence that children are a relevant source of infection for SARS-CoV‑2 nor that they are relevantly at risk.
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http://dx.doi.org/10.1007/s00112-020-01050-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7607899PMC
November 2020

Inter- and Intraobserver Variation in the Assessment of Preoperative Colostograms in Male Anorectal Malformations: An ARM-Net Consortium Survey.

Front Pediatr 2020 18;8:571. Epub 2020 Sep 18.

Department of Medicine, Faculty of Health, Witten/Herdecke University, Witten, Germany.

Male patients with anorectal malformations (ARM) are classified according to presence and level of the recto-urinary fistula. This is traditionally established by a preoperative high-pressure distal colostogram that may be variably interpreted by different surgeons. The aim of this study was to evaluate the inter- and intraobserver variation in the assessment by pediatric surgeons of preoperative colostograms with respect to the level of the recto-urinary fistula. Sixteen pediatric surgeons from 14 European centers belonging to the ARM-Net Consortium twice scored 130 images of distal colostograms taken in sagittal projection at a median age of 66 days of life (range: 4-1,106 days). Surgeons were asked to classify the fistula in bulbar, prostatic, bladder-neck, no fistula, and "unclear anatomy" example. Their assessments were compared with the intraoperative findings (kappa) for two scoring rounds with an interval of 6 months (intraobserver variation). Agreement among the surgeons' scores (interobserver variation) was also calculated using Krippendorff's alpha. A kappa over 0.75 is considered excellent, between 0.40 and 0.75 fair to good, and below 0.40 poor. Surgeons were asked to score the images in "poor" and "good" quality and to provide their years of experience in ARM treatment. Agreement between the image-based rating of surgeons and the intraoperative findings ranges from 0.06 to 0.45 (mean 0.31). Interobserver variation is higher (Krippendorff's alpha between 0.40 and 0.45). Years of experience in ARM treatment does not seem to influence the scoring. The mean intraobserver variation between the two rounds is 0.64. Overall, the quality of the images is considered poor. Images categorized as having a good quality result in a statistically significant higher kappa (mean: 0.36 and 0.37 in the first and second round, respectively) than in the group of bad-quality images (mean: 0.25 and 0.23, respectively). There is poor agreement among experienced pediatric colorectal surgeons on preoperative colostograms. Techniques and analyses of images need to be improved in order to generate a homogeneous series of patients and make comparison of outcomes reliable.
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http://dx.doi.org/10.3389/fped.2020.00571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531276PMC
September 2020

The FeverApp registry - ecological momentary assessment (EMA) of fever management in families regarding conformity to up-to-date recommendations.

BMC Med Inform Decis Mak 2020 10 1;20(1):249. Epub 2020 Oct 1.

School of Medicine, Faculty of Health, University of Witten/Herdecke, Alfred-Herrhausen-Straße 50, D 58448, Witten, Germany.

Background: Fever is one of the most common symptoms of pediatric consultations and its mismanagement is a health care burden. Guidelines on fever management are incoherent and data on fever management are still missing. This study protocol describes an app-based registry to evaluate the fever management of parents.

Objective: The primary objectives are to assess guideline adherence (primary outcome) and parental confidence in managing fever, and thus to reduce overuse of antipyretics, antibiotics and healthcare providers. Secondary objectives include creating a "FeverApp" that will enable parents to handle fever safely and to use the FeverApp registry as symptom and fever management diary. Further objectives include developing and testing a symptom-led registry model by app-based acquisition of parental entries of febrile illness cycle data and developing and testing models of how an interactive app-based registry can enable nationwide EMA information to inform science, guideline and policy makers, and the public.

Methods: A FeverApp, guiding parents and carers in handling and documenting fever, will be developed with family pediatricians according to current guidelines and recommended for all parents in Germany. A registry will anonymously document features, management and outcomes of febrile episodes: basic sociodemographic and medical information, initial symptoms, course of fever, pharmacological and non-pharmacological interventions, consultations with doctors, outcomes, fever-associated fears, and app satisfaction.

Results: This app may improve communication quality and health, e.g. asthma and antimicrobial resistance. Results will be published via website www.feverapp.de .

Trial Registration: This app-based registry protocol is registered in the German Clinical Trials Register (DRKS) with registration number: DRKS00016591 .
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http://dx.doi.org/10.1186/s12911-020-01269-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7528253PMC
October 2020

Is Involved in Urinary Tract and Urorectal Development.

Front Cell Dev Biol 2020 7;8:567. Epub 2020 Aug 7.

Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.

Previous studies in developing and zebrafish reported that the phosphate transporter is expressed in pronephric kidneys. The recent identification of as a monoallelic candidate gene for cloacal exstrophy further suggests its involvement in the urinary tract and urorectal development. However, little is known of the functional role of in urinary tract development. Here, we investigated this using morpholino oligonucleotide knockdown of the zebrafish ortholog . This caused kidney cysts and malformations of the cloaca. Moreover, in morphants we demonstrated dysfunctional voiding and hindgut opening defects mimicking imperforate anus in human cloacal exstrophy. Furthermore, we performed immunohistochemistry of an unaffected 6-week-old human embryo and detected in the urinary tract and the abdominal midline, structures implicated in the pathogenesis of cloacal exstrophy. Additionally, we resequenced in 690 individuals with bladder exstrophy-epispadias complex (BEEC) including 84 individuals with cloacal exstrophy. We identified two additional monoallelic variants. One was identified in a case-parent trio with classic bladder exstrophy, and one additional novel variant was detected in an affected mother who transmitted this variant to her affected son. To study the potential cellular impact of variants, we expressed them in HEK293 cells. Here, phosphate transport was not compromised, suggesting that it is not a disease mechanism. However, there was a tendency for lower levels of cleaved caspase-3, perhaps implicating apoptosis pathways in the disease. Our results suggest is involved in urinary tract and urorectal development and implicate as a disease-gene for BEEC.
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http://dx.doi.org/10.3389/fcell.2020.00567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7426641PMC
August 2020

Age dependency of body mass index distribution in childhood and adolescent inpatients with anorexia nervosa with a focus on DSM-5 and ICD-11 weight criteria and severity specifiers.

Eur Child Adolesc Psychiatry 2020 Jul 14. Epub 2020 Jul 14.

Department of Child and Adolescent Psychiatry, Psychotherapy and Psychosomatics, University Hospital Essen (AöR), University of Duisburg-Essen, Wickenburgstrasse 21, 45147, Essen, Germany.

Both DSM-5 and ICD-11 have provided weight cut-offs and severity specifiers for the diagnosis of anorexia nervosa (AN) in childhood, adolescence and adulthood. The aims of the current study focusing on inpatients aged < 19 years were to assess (1) the relationship between age and body mass index (BMI; kg/m), BMI-centiles, BMI-standard deviation scores (BMI-SDS) and body height-SDS at referral, (2) the percentages of patients fulfilling the DSM-5 and ICD-11 weight criteria and severity categories for AN, and (3) the validity of the AN severity specifiers via analysis of both weight related data at discharge and inpatient treatment duration. The German Registry for Anorexia Nervosa encompassed complete data sets for 469 female patients (mean age = 15.2 years; range 8.9-18.9 years) with a diagnosis of AN (n = 404) or atypical AN (n = 65), who were ascertained at 16 German child and adolescent psychiatric hospitals. BMI at referral increased up to age 15 to subsequently plateau. Approximately one tenth of all patients with AN had a BMI above the fifth centile. The ICD-11 specifier based on a BMI-centile of 0.3 for childhood and adolescent AN entailed two equally sized groups of patients. Discharge data revealed limited validity of the specifiers. Height-SDS was not correlated with age thus stunting had no impact on our data. We corroborate the evidence to use the tenth instead of the fifth BMI-centile as the weight criterion in children and adolescents. Weight criteria should not entail major diagnostic shifts during the transition from adolescence to adulthood. The severity specifiers based on BMI or BMI-centiles do not seem to have substantial clinical validity.
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http://dx.doi.org/10.1007/s00787-020-01595-4DOI Listing
July 2020

Treatment Strategies and Outcome of the Exstrophy-Epispadias Complex in Germany: Data From the German CURE-Net.

Front Pediatr 2020 19;8:174. Epub 2020 May 19.

Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, Regensburg, Germany.

To evaluate the impact of reconstructive strategies and post-operative management on short- and long-term surgical outcome and complications of classical bladder exstrophy (CBE) patients' comprehensive data of the multicenter German-wide Network for Congenital Uro-Rectal malformations (CURE-Net) were analyzed. Descriptive analyses were performed between 34 prospectively collected CBE patients born since 2009, median 3 months old [interquartile range (IQR), 2-4 months], and 113 cross-sectional patients, median 12 years old (IQR, 6-21 years). The majority of included individuals were males (67%). Sixty-eight percent of the prospectively observed and 53% of the cross-sectional patients were reconstructed using a staged approach ( = 0.17). Although prospectively observed patients were operated on at a younger age, the post-operative management did not significantly change in the years before and after 2009. Solely, in prospectively observed patients, peridural catheters were used significantly more often ( = 0.017). Blood transfusions were significantly more frequent in males ( = 0.002). Only half of all CBE individuals underwent inguinal hernia repair. Cross-sectional patients after single-stage reconstructions showed more direct post-operative complications such as upper urinary tract dilatations ( = 0.0021) or urinary tract infections ( = 0.023), but not more frequent renal function impairment compared to patients after the staged approach ( = 0.42). Continence outcomes were not significantly different between the concepts ( = 0.51). Self-reported continence data showed that the majority of the included CBE patients was intermittent or continuous incontinent. Furthermore, subsequent consecutive augmentations and catheterizable stomata did not significantly differ between the two operative approaches. Urinary diversions were only reported after the staged concept. In this German multicenter study, a trend toward the staged concept was observed. While single-stage approaches tended to have initially more complications such as renal dilatation or urinary tract infections, additional surgery such as augmentations and stomata appeared to be similar after staged and single-stage reconstructions in the long term.
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http://dx.doi.org/10.3389/fped.2020.00174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248227PMC
May 2020

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

PLoS One 2020 5;15(6):e0234246. Epub 2020 Jun 5.

Institute of Human Genetics, Medical Faculty of Bonn, University of Bonn, Bonn, Germany.

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.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0234246PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7274392PMC
August 2020

Incontinence and constipation in adolescent patients with anorexia nervosa-Results of a multicenter study from a German web-based registry for children and adolescents with anorexia nervosa.

Int J Eat Disord 2020 02 16;53(2):219-228. Epub 2019 Oct 16.

Department of Child and Adolescent Psychiatry, Saarland University Hospital, Homburg, Germany.

Objective: Nocturnal enuresis (NE), daytime urinary incontinence (DUI), and fecal incontinence (FI) are common disorders in childhood and are frequently accompanied by comorbid psychiatric disorders. Despite a high association between urinary and fecal incontinence with psychiatric and neurodevelopmental disorders, research on comorbidity between incontinence and anorexia nervosa (AN) remains scarce. Yet, it is well known that somatic consequences of AN include metabolic and gastrointestinal disorders. The study sought to assess the prevalence of incontinence and constipation in children and adolescents with AN and to examine associations of these two symptoms with body weight at admission and with BMI changes during inpatient treatment.

Methods: Data collected between 2015 and 2017 by a multicenter German web-based registry for AN were analyzed. Three hundred and forty-eight patients with AN (96.3% female, mean age = 15.1 ± 1.8 years) were assessed regarding AN subtype, psychiatric comorbidity, body weight, incontinence, and constipation.

Results: Overall, 27.6% of patients had constipation, 1.8% had NE and 1.8% DUI. Prevalence of constipation did not significantly differ between AN subtypes. Constipation did not lead to any significant differences in weight/BMI changes during inpatient treatment.

Discussion: This is the largest study of incontinence and constipation in patients with AN, so far. Our results indicate that constipation is highly prevalent in adolescent patients with AN and reflects a clinically relevant condition. Despite, patients with AN do not have an increased prevalence of incontinence compared with the general population. Future studies should include medical examinations like ultrasound and physical examination of the lower abdomen to evaluate the severity of constipation.
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http://dx.doi.org/10.1002/eat.23182DOI Listing
February 2020

What do pediatric surgeons think about sexual issues in dealing with patients with anorectal malformations? The ARM-Net consortium members' opinion.

Pediatr Surg Int 2019 Sep 5;35(9):935-943. Epub 2019 Jul 5.

Department of Surgery-Pediatric Surgery, Amalia Children's Hospital-Radboudumc Nijmegen, Nijmegen, The Netherlands.

Purpose: Since pediatric surgeons aim to follow their patients with anorectal malformations (ARM) into adulthood the aim of this study was to investigate how pediatric surgeons deal with sexual issues related to ARM.

Methods: In 2018, a questionnaire was developed by the working group "Follow-up and sexuality" of the ARM-Net consortium and sent to all consortium-linked pediatric surgeons from 31 European pediatric surgical centers. Obtained data were statistically analyzed.

Results: Twenty-eight of 37 pediatric surgeons (18 males/10 females) answered the questionnaire. The majority of pediatric surgeons (82%) think they should talk about sexual issues with their patient. More than 50% of pediatric surgeons do not feel at all or only moderately confident discussing the topic of sexuality. Most pediatric surgeons require more support (96%) and wish to be trained in sexuality and sexual issues (78%) to feel confident towards their ARM-patients/parents. For optimal care, sexual issues with ARM-patients should be managed by a multidisciplinary team.

Conclusions: Pediatric surgeons feel that sexuality is an important issue for their ARM-patients, which they are primarily responsible of but should be managed in concert with a multidisciplinary team. A training in sexuality is wished to feel more confident about this specific issue.
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http://dx.doi.org/10.1007/s00383-019-04506-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677844PMC
September 2019

Exome chip association study excluded the involvement of rare coding variants with large effect sizes in the etiology of anorectal malformations.

PLoS One 2019 28;14(5):e0217477. Epub 2019 May 28.

Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

Introduction: Anorectal malformations (ARM) are rare congenital malformations, resulting from disturbed hindgut development. A genetic etiology has been suggested, but evidence for the involvement of specific genes is scarce. We evaluated the contribution of rare and low-frequency coding variants in ARM etiology, assuming a multifactorial model.

Methods: We analyzed 568 Caucasian ARM patients and 1,860 population-based controls using the Illumina HumanExome Beadchip array, which contains >240,000 rare and low-frequency coding variants. GenomeStudio clustering and calling was followed by re-calling of 'no-calls' using zCall for patients and controls simultaneously. Single variant and gene-based analyses were performed to identify statistically significant associations, applying Bonferroni correction. Following an extra quality control step, candidate variants were selected for validation using Sanger sequencing.

Results: When we applied a MAF of ≥1.0%, no variants or genes showed statistically significant associations with ARM. Using a MAF cut-off at 0.4%, 13 variants initially reached statistical significance, but had to be discarded upon further inspection: ten variants represented calling errors of the software, while the minor alleles of the remaining three variants were not confirmed by Sanger sequencing.

Conclusion: Our results show that rare and low-frequency coding variants with large effect sizes, present on the exome chip do not contribute to ARM etiology.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0217477PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6538182PMC
January 2020

Renal Impairment Is Associated with Intracerebral Hemorrhage after Mechanical Thrombectomy in Vertebrobasilar Stroke.

Cerebrovasc Dis 2019 15;47(1-2):48-56. Epub 2019 Feb 15.

Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany,

Background And Purpose: Renal dysfunction (RD) is overall associated with unfavorable functional outcome and higher risk of mortality after acute ischemic stroke. Associations between RD and outcome in patients with acute vertebrobasilar stroke treated with thrombectomy have not been evaluated so far.

Materials And Methods: Consecutive patients with vertebrobasilar stroke treated with mechanical thrombectomy between October 2010 and July 2017 at our center were analyzed. RD was defined as glomerular filtration rate (GFR) < 60 mL/min/1.73 m2 at admission. Endpoints were (I) poor clinical outcome (modified Rankin Scale > 2) at 3 months, (II) 3-month mortality, and (III) intracerebral hemorrhage (ICH) after treatment.

Results: Overall, 106 patients were included. Median age was 73.0 years (interquartile range 62.0-80.0), and RD was present in 20.8%. Multivariate analysis revealed that RD was associated with a higher risk for any ICH (OR 3.54; 95% CI 1.09-11.49; p = 0.035). Stroke severity at onset predicted poor clinical outcome (OR 1.08; 95% CI 1.03-1.14; p = 0.003). Neither low GFR nor any ICH, but stroke severity (OR 1.08; 95% CI 1.03-1.14; p = 0.002) and poor recanalization results (OR 11.38; 95% CI 2.01-64.41; p = 0.006) were associated with a higher risk for mortality.

Conclusions: Patients with RD and acute vertebrobasilar stroke should be thoroughly monitored to prevent ICH after thrombectomy. Our results support performing mechanical thrombectomy in acute stroke patients with large vessel occlusions of the posterior circulation, irrespective of their renal function.
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http://dx.doi.org/10.1159/000497070DOI Listing
February 2020

Needs Assessment in Care of Adults With Anorectal Malformations and Exstrophy-Epispadias Complex in Germany.

Front Pediatr 2018 19;6:392. Epub 2018 Dec 19.

Department of Pediatric Surgery and Pediatric Urology, Medical Center for Children and Adolescents AUF DER BULT, Hannover, Germany.

Medical needs of adults with anorectal malformations (ARM) and the exstrophy-epispadias complex (EEC) are not fully understood. Therefore, the aim of the study was to evaluate how affected individuals get along with the current national medical care and what their medical or social long-term requirements are. Between 11/2014-07/2016 all adult members (≥18 years, ARM = 113, EEC = 126) of the German self-help organizations SoMA e.V. and Blasenekstrophie/Epispadie e.V. were contacted via email or post and asked to fill out an anonymous online questionnaire regarding medical requirements, treatment satisfaction, daily life impairment and expectations regarding physicians soft skills. The results were compared between both groups and male and female participants. 56 participants with ARM (median age 26 years, IQR 19-38) and 52 participants with EEC (median age 31 years, IQR 22-37) filled in the questionnaire completely. Forty-five percent of the ARM and 67% of the EEC participants contacted an urologist. A general surgeon was visited by 23% of the ARM individuals, a peadiatric surgeon by 20%. Although 60% of the females with ARM and 82% of the females with EEC assessed gynecological counseling as helpful or neutral, a small subgroup of ARM females ( = 6, 16%; 70% non-isolated ARM or ARM with Hirschsprung disease and additional associated anomalies) were not satisfied. The majority of both groups reported no or only minor daily life impairment ( = 0.38). Professional knowledge, paying attention to patients' concerns, having empathy and taking enough time was important for over 90% of all participants. Thirty-eight percent of the ARM and 27% of the EEC individuals needed psychological support. Most medical consultations were judged to be helpful. Although adults with ARM and EEC being a self-help organization member and thus well informed and generally cope well, participants expressed their wish for expert counseling regarding family planning, reconstructive procedures, continence management, urological care and social welfare issues. Furthermore, specific expert consultations for gynecological issues in a subgroup of ARM females, mainly non-isolated, might be required. Actual needs of adults with rare conditions must be better clarified to improve medical care beyond childhood and adolescence.
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http://dx.doi.org/10.3389/fped.2018.00392DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306024PMC
December 2018

Seasonal variation of BMI at admission in German adolescents with anorexia nervosa.

PLoS One 2018 11;13(9):e0203844. Epub 2018 Sep 11.

Department of Child and Adolescent Psychiatry, University Medicine of the Johannes Gutenberg-University, Mainz, Germany.

Objective: Recent preliminary studies indicated a seasonal association of BMI at admission to inpatient treatment for anorexia nervosa (AN), indicating lower BMI in the cold season for restrictive AN. An impaired thermoregulation was proposed as the causal factor, based on findings in animal models of AN. However, findings regarding seasonality of BMI and physical activity levels in the general population indicate lower BMI and higher physical activity in summer than in winter. Therefore, we aimed to thoroughly replicate the findings regarding seasonality of BMI at admission in patients with AN in this study.

Method: AN subtype, age- and gender-standardized BMI scores (BMI-SDS) at admission, mean daily sunshine duration and ambient temperature at the residency of 304 adolescent inpatients with AN of the multi-center German AN registry were analyzed.

Results: A main effect of DSM-5 AN subtype was found (F(2,298) = 6.630, p = .002), indicating differences in BMI-SDS at admission between restrictive, binge/purge and subclinical AN. No main effect of season on BMI-SDS at admission was found (F(1,298) = 4.723, p = .025), but an interaction effect of DSM-5 subtype and season was obtained (F(2,298) = 6.625, p = .001). Post-hoc group analyses revealed a lower BMI-SDS in the warm season for restrictive AN with a non-significant small effect size (t(203.16) = 2.140, p = .033; Hedges'g = 0.28). Small correlations of mean ambient temperature (r = -.16) and daily sunshine duration (r = -.22) with BMI-SDS in restrictive AN were found. However, the data were widely scattered.

Conclusions: Our findings are contrary to previous studies and question the thermoregulatory hypothesis, indicating that seasonality in AN is more complex and might be subject to other biological or psychological factors, for example physical activity or body dissatisfaction. Our results indicate only a small clinical relevance of seasonal associations of BMI-SDS merely at admission. Longitudinal studies investigating within-subject seasonal changes might be more promising to assess seasonality in AN and of higher clinical relevance.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203844PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133390PMC
March 2019

Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study.

Urology 2019 01 1;123:210-220. Epub 2018 Aug 1.

Institute of Human Genetics, University of Bonn, Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany. Electronic address:

Objective: To further investigate associated anomalies in exstrophy-epispadias complex (EEC) patients congenital uro-rectal malformations network (CURE-Net) database was systematically screened. In literature the EEC comprises a spectrum of anomalies, mainly occurring "isolated" without additional congenital defects. Nevertheless, previous epidemiological studies indicated a higher association with renal, anorectal, and lower neurotubular anomalies, which may originate from the same developmental morphogenetic fields.

Materials And Methods: Seventy-three prospectively (born since 2009) and 162 cross-sectional recruited EEC patients (born 1948-2008) were analyzed. Associated anomalies were derived from patient's medical data as well as from a physical examination during a physician's interview, classified according to the international statistical classification of diseases and related health problems and grouped with the London Dysmorphology Database. Descriptive statistical analyses were performed.

Results: Majority of participants were male (68%) and expressed the classical bladder exstrophy phenotype (71%). Exstrophy variants occurred significantly more often in newborns (21%, P < .0001). Anomalies such as inguinal hernias, skeleton, and joint anomalies were equally present in both groups (P = .65 and P = .67). Heart defects were seen more often in newborns (6%) than in the cross-sectional group (1%; P = .033) and the general German population (1%). In total, 59% of the prospective and 48% of the cross-sectional patients had associated anomalies outside the spectrum (P = .16).

Conclusion: Phenomenological multicenter data confirmed the dimension of associated anomalies inside and outside the EEC spectrum. The detected anomalies are either important in preparing for the primary reconstruction or later in long-term follow-up. Associated anomalies of EEC should be spotlighted during routine check-up in all EEC patients.
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http://dx.doi.org/10.1016/j.urology.2018.05.039DOI Listing
January 2019

Maternal drug use and the risk of anorectal malformations: systematic review and meta-analysis.

Orphanet J Rare Dis 2018 05 10;13(1):75. Epub 2018 May 10.

Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University, Mainz, Germany.

Background: Origin of anorectal malformations (ARM) are considered multifactorial. Several genetic and non-genetic risk factors are discussed in literature. Maternal periconceptional medical drug use as possible risk factor, however, has not been reviewed systematically.

Methods: Studies published between 1977 and April 2017 were reviewed through systematic search in PubMed, ISI Web of Knowledge and Scopus databases. Furthermore, related and cross-referencing publications were reviewed. Pooled odds ratios (95% confidence intervals) were determined to quantify associations of maternal periconceptional use of folic acid, multivitamins, anti-asthma medication (separated in any anti-asthma medication, inhaled corticosteroids and salbutamol), thyroid hormone supplements, psychiatric drugs (separated in antidepressants, any selective serotonin reuptake inhibitors [SSRI], sertraline, citalopram, fluoxetine, paroxetine, hypnotics and benzodiazepine) and aspirin with ARM using meta-analyses.

Results: Thirty-seven studies that reported on the association between maternal periconceptional drug intake and infants born with ARM were included in this review. These were conducted in the United States of America (n = 14), Sweden (n = 6), Hungary (n = 5), Germany (n = 3), the Netherlands (n = 3), Denmark (n = 2), France (n = 2), Norway (n = 1) and the UK (n = 1). However, only few of these studies reported on the same risk factors. Studies were heterogeneous with respect to case numbers, period ingestion of medical drug use, control selection and adjustment for covariates. Consistently increased risks were observed for any anti-asthma medication, and hypnotics and benzodiazepine, but not for folic acid, multivitamins, inhaled corticosteroids, salbutamol, thyroid hormone supplements, antidepressants, any SSRI, sertraline, citalopram, fluoxetine, paroxetine and aspirin. In meta-analyses, pooled odds ratios (95% confidence intervals) for any anti-asthma medication, and hypnotics and benzodiazepine were 1.64 (1.22-2.21), and 2.43 (1.03-5.73), respectively.

Conclusion: Evidence on maternal drug use before conception and during pregnancy as risk factor for ARM from epidemiological studies is still very limited. Nevertheless, the few available studies indicate any anti-asthma medication, and hypnotics and benzodiazepine to be associated with increased risks. Further, ideally large-scale multicenter and register-based studies are needed to clarify the role of maternal drug intake for the development of ARM.
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http://dx.doi.org/10.1186/s13023-018-0789-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5946541PMC
May 2018

Epidemiologic analysis of families with isolated anorectal malformations suggests high prevalence of autosomal dominant inheritance.

Orphanet J Rare Dis 2017 12 13;12(1):180. Epub 2017 Dec 13.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

Background: Anorectal malformations (ARM) are rare abnormalities that occur in approximately 1 in 3000 live births with around 40% of patients presenting with isolated forms. Multiple familial cases reported, suggest underlying genetic factors that remain largely unknown. The recurrence in relatives is considered rare, however transmission rates of ARM by affected parents have never been determined before. The inheritance pattern of ARM was investigated in our database of patients with isolated ARM.

Results: Within our cohort of 327 patients with isolated ARM we identified eight adult patients from eight families who had in total 16 children with their healthy spouse. Of these ten had ARM, resulting in a recurrence risk of approximately one in two live births (10 of 16; 62%). From 226 families with 459 siblings we found two affected siblings in five families. Hence, the recurrence risk of ARM among siblings is approximately one in 92 live births (5 of 459; 1.0%).

Conclusions: Comparing the observed recurrence risk in our cohort with the prevalence in the general population, we see a 1500-fold increase in recurrence risk for offspring and a 32-fold increase if a sibling is affected. The recurrence risk of approximately 62% indicates an autosomal dominant mode of inheritance. Reliable figures on recurrence of ARM are becoming increasingly important since improved surgical techniques are able to maintain sexual function resulting in more offspring of patients with ARM. These data allow more precise counseling of families with ARM and support the need for genetic studies.
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http://dx.doi.org/10.1186/s13023-017-0729-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5729416PMC
December 2017

Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network.

Urology 2018 02 7;112:215-221. Epub 2017 Nov 7.

Department of Urology and Paediatric Urology, Ulm University, Ulm, Germany.

Objective: To investigate sexual function and quality of life (QoL) in adult male individuals with exstrophy-epispadias complex (EEC). Data from the German Network for Congenital Urorectal Malformations (CURE-Net) were used.

Patients And Methods: Fifty-one male participants (≥18 years) recruited by CURE-Net between 2009 and 2012 were re-contacted per mail and asked to fill out 4 questionnaires including International Index of Erectile Function (IIEF-5), Cologne Assessment of Erectile Dysfunction (KEED), the Short-Form 36 (SF-36), and one self-designed questionnaire about their medical history, current health status, and sexual experience. The SF-36 results were compared with general German population.

Results: Nineteen male participants (37%) completed all questionnaires (median age 26 years, 84% classical bladder exstrophy). The majority (68%) was reconstructed in a staged or single-staged approach; further 32% had a primary urinary diversion. Seventy-four percent of the participants reported a certain degree of urinary incontinence. Mean IIEF-15 results showed mild to moderate or moderate impairment in all domains. The SF-36 results revealed no difference in the German population. Subgroup analysis showed statistically significant lower results in certain SF-36 domains with regard to incontinence, dissatisfaction with genital appearance, and antihypertensive drug intake.

Conclusion: Although there is no difference in overall QoL comparing male individuals with EEC to the general German population, incontinence, dissatisfaction with genital appearance, and taking antihypertensive medication seem to have a considerable impact on QoL. Furthermore, mild to moderate erectile dysfunction and moderate intercourse satisfaction were confirmed, suggesting the need for further improvement in care for adult male individuals with EEC.
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http://dx.doi.org/10.1016/j.urology.2017.08.063DOI Listing
February 2018

Influence of Renal Function on Treatment Results after Stroke Thrombectomy.

Cerebrovasc Dis 2017 31;44(5-6):351-358. Epub 2017 Oct 31.

Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.

Background: Renal dysfunction (RD) may be associated with poor outcome in ischemic stroke patients treated with mechanical thrombectomy (MT), but data concerning this important and emerging comorbidity do not exist so far. Here, we investigated the influence of RD on postprocedural intracerebral hemorrhage (ICH), clinical outcome, and mortality in a large prospectively collected cohort of acute ischemic stroke patients treated with MT.

Methods: Consecutive patients with anterior-circulation stroke treated with MT between October 2010 and January 2016 were included. RD was defined as glomerular filtration rate (GFR) <60 mL/min/1.73 m2. In a prospective database, clinical characteristics were recorded and brain images were analyzed for the presence of ICH after treatment in all patients. Clinical outcome was assessed by the modified Rankin Scale (mRS) after 3 months. To evaluate associations between clinical factors and outcomes uni- and multivariate regression analyses were conducted.

Results: In total, 505 patients fulfilled all inclusion criteria (female: 49.7%, mean age: 71.0 years). RD at admission was present in 20.2%. RD patients were older and had cardiovascular risk factors more often. Multivariate regression analysis after adjustment for age, stroke severity, diabetes, hypertension, GFR, previous stroke, MT alone, or additional thrombolysis and recanalization results revealed that lower GFR was not independently associated with poor outcome (mRS 3-6; OR 1.13, 95% CI 0.99-1.28; p = 0.072) or ICH. However, lower GFR at admission was associated with a higher risk of mortality (OR 1.15, 95% CI 1.01-1.31; p = 0.038). Compared to admission, GFR values were higher at discharge (mean: 77.9 vs. 80.8 mL/min/1.73 m2; p = 0.046).

Conclusions: We did not find evidence for an association of lower GFR with an increased risk of poor outcome and ICH, but lower GFR was a determinant of 90-day mortality after endovascular stroke treatment. Our findings encourage also performing MT in this relevant subgroup of acute ischemic stroke patients.
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http://dx.doi.org/10.1159/000481147DOI Listing
March 2019

Smartphone-Enhanced Low-Threshold Intervention for adolescents with Anorexia Nervosa (SELTIAN) waiting for outpatient psychotherapy: study protocol of a randomised controlled trial.

BMJ Open 2017 Oct 22;7(10):e018049. Epub 2017 Oct 22.

Department of Child and Adolescent Psychiatry, University Medicine Mainz, Mainz, Germany.

Introduction: As smartphones are widely distributed nowadays, mental health apps seem to be a promising treatment tool. First self-help apps for eating disorders have been developed recently. However, studies assessing the efficacy of such apps are scarce. A smartphone app could prevent further weight reduction and increase commitment during waiting time for outpatient treatment, especially for adolescents with anorexia nervosa (AN). In this study protocol, a randomised controlled trial to assess the efficacy of a smartphone-enhanced low-threshold intervention for AN during waiting time is described.

Methods And Analysis: 30 adolescents with AN aged 12-19 years will be recruited at three child and adolescent psychiatry centres in Germany. All participants will be randomised to consultations only or consultations and the use of the Jourvie Research app. The app will be installed either on their own smartphone or on a research device. The participants will receive biweekly to monthly consultations for 3 months to review meal plans and weight management with a clinician. In addition, the Jourvie Research app for meal, behaviour and emotion protocolling will be provided to the intervention group. The protocols will be discussed with a clinician during the consultations. Dialectical behaviour therapy-informed skills for tension regulation to increase compliance with the meal plan will be taught in the intervention group and the app will remind the participant of a skill in a moment of need. The primary outcome is the age-adjusted and height-adjusted weight gain in standard deviation score after 3 months.

Ethics And Dissemination: Results will be disseminated at conferences and through peer-reviewed publications. The trial was approved by the ethics review board of the local medical association, Mainz, Germany, under the reference number 837.338.15.

Trial Registration Number: German clinical trials register, reference number DRKS00008946.
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http://dx.doi.org/10.1136/bmjopen-2017-018049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665307PMC
October 2017

Momentary emotion identification in female adolescents with and without anorexia nervosa.

Psychiatry Res 2017 09 23;255:394-398. Epub 2017 Jun 23.

Department of Child and Adolescent Psychiatry and Psychotherapy, University Medical Center at the Johannes Gutenberg-University, Mainz, Germany.

Individuals with anorexia nervosa (AN) often report difficulties in identifying emotions, which have been mostly studied as an alexithymia trait. In a controlled two-day ecological momentary assessment, we studied the influence of time of day and aversive tension on self-reported momentary emotion identification. Analysis on an aggregated level revealed a significant lower mean emotion identification in the AN group. In a mixed model analysis, the AN group showed lower emotion identification than the control group (HC). Both a general and a group effect of time of day were found, indicating that emotion identification improved during the day in HC, whereas a negligible decrease of the emotion identification over time was observed in the AN group. Age was associated positively with emotion identification in general, but no specific effect on a group level was found. No effect of aversive tension was found. Our results indicate that an improvement during the day might be a natural process of emotion identification, which is hindered in AN. Future research should focus on temporal relations between emotion identification and disordered eating behavior to further evaluate the clinical relevance of emotion identification difficulties in AN.
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http://dx.doi.org/10.1016/j.psychres.2017.06.075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167741PMC
September 2017

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

Birth Defects Res 2017 Jul 12;109(13):1063-1069. Epub 2017 Jun 12.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

Background: The 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.

Methods: To detect further causative CNVs we performed array based molecular karyotyping in 75 VATER/VACTERL and 40 VATER/VACTERL-like patients.

Results: Following 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.

Conclusion: In 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. © 2017 Wiley Periodicals, Inc.
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http://dx.doi.org/10.1002/bdr2.1042DOI Listing
July 2017

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

Sci Rep 2017 02 8;7:42170. Epub 2017 Feb 8.

Institute of Human Genetics, University of Bonn, Bonn, Germany.

Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed. Only marker rs6874700 at the ISL1 locus showed association (p = 2.22 × 10). A meta-analysis of rs6874700 of our previous and present study showed a p value of 9.2 × 10. Developmental biology models were used to clarify the location of ISL1 activity in the forming urinary tract. Genetic lineage analysis of Isl1-expressing cells by the lineage tracer mouse model showed Isl1-expressing cells in the urinary tract of mouse embryos at E10.5 and distributed in the bladder at E15.5. Expression of isl1 in zebrafish larvae staged 48 hpf was detected in a small region of the developing pronephros. Our study supports ISL1 as a major susceptibility gene for CBE and as a regulator of urinary tract development.
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http://dx.doi.org/10.1038/srep42170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5296905PMC
February 2017

Quality of Life after Surgical Treatment for Esophageal Atresia: Long-Term Outcome of 154 Patients.

Eur J Pediatr Surg 2017 Oct 6;27(5):443-448. Epub 2017 Jan 6.

Department of Pediatric Surgery and Pediatric Urology, Children's Hospital, Cologne, Germany.

 The short- and long-term surgical results in patients with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF) have been described in depth from a physician's perspective. Contrarily, the perception and coping strategies of affected patients and their parents have rarely been reported. The aim of this study was to generate data on this matter.  A total of 154 patients who had operative reconstruction for EA between 1971 and 2012 were evaluated for demographic data, surgical technique, affection of daily life, and coping strategies.  Gastroesophageal reflux (GER) symptoms were reported in 59% of cases with 33% requiring fundoplication. Regular bougienages of anastomotic strictures were necessary in 68% with 36% requiring repeated dilatations in the first postoperative year. Enteral nutrition via a nasogastric tube was performed in 66% after surgery. In 40%, the tube was needed until their sixth week of life. In 25%, nutritional support was necessary more than 1 year out of surgery. Quality of life in general was felt to be impaired according to the patients' parents in 50%. Regarding medical advice about long-term morbidities, more than 50% of the parents felt insufficiently advised. There were no statistical differences between the EA/TEF subtypes regarding GER symptoms, frequency of esophageal dilatations, eating behaviors, or support of the parents in feeding management.  Our observations indicate that a high percentage of EA/TEF patients and families require more intensive aftercare and support during the first year following primary reconstruction than previously thought. We observed a higher need for adequate parental information on long-term complications of their children compared with current practice.
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http://dx.doi.org/10.1055/s-0036-1597956DOI Listing
October 2017

Esophageal Atresia with or without Tracheoesophageal Fistula (EA/TEF): Association of Different EA/TEF Subtypes with Specific Co-occurring Congenital Anomalies and Implications for Diagnostic Workup.

Eur J Pediatr Surg 2018 Apr 6;28(2):176-182. Epub 2017 Jan 6.

Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.

Background:  Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) represents the most common developmental malformation of the upper digestive tract. It is classified into six subtypes according to the classification of Vogt, depending on anatomical variation of this malformation. Around 50% of the patients with EA/TEF present additional anomalies, which often influence, next to the EA/TEF subtype, the overall prognosis of EA/TEF newborns. Here, we investigated the association of the different EA/TEF subtypes with co-occurring congenital anomalies in EA/TEF patients and demonstrate their implications for postnatal diagnostic workup.

Materials And Methods:  We investigated 333 patients of a large German multicenter study born between 1980 and 2012. After evaluation of all available clinical records, 235 patients were included in our analysis. We compared our results with existing data.

Results:  The highest risk for co-occurring anomalies was seen in patients with most common Vogt 3b ( = 0.024), especially for additional gastrointestinal anomalies ( = 0.04). Co-occurring anomalies of the skin were significantly more common in patients with subtype Vogt 2 ( = 0.024). A significant correlation was observed for an impaired neurodevelopmental outcome and EA/TEF Vogt 3a ( = 0.041). Patients with EA/TEF showed a higher risk to present with any additional congenital anomaly compared with the general population ( < 0.001).

Conclusion:  Our results warrant thorough clinical workup for gastrointestinal anomalies especially in patients with Vogt 3b. Moreover, it might be necessary to focus on a thorough aftercare for neurocognitive development in patients with Vogt 3a. The here presented observations need to be confirmed by future studies.
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http://dx.doi.org/10.1055/s-0036-1597946DOI Listing
April 2018

Ecological validity of the German Bruininks-Oseretsky Test of Motor Proficiency - 2nd Edition.

Hum Mov Sci 2017 Jun 7;53:45-54. Epub 2016 Nov 7.

Clinic for Child Neurology and Social Pediatrics, Child Centre Maulbronn, 75433 Maulbronn, Germany; Department of Child and Adolescent Psychiatry, University Medicine Mainz, 55131 Mainz, Germany.

The diagnosis of Developmental Coordination Disorder (DCD) is based on poor motor coordination in the absence of other neurological disorders. In order to identify the presence of movement difficulties, a standardised motor assessment is recommended to determine the extent of movement problems which may contribute to deficits in daily task performance. A German version of the Bruininks-Oseretsky Test of Motor Proficiency, Second Edition (German BOT-2) was recently published. This study aimed to determine the ecological validity of the German BOT-2 by considering the relationship between assessment of fundamental motor skills with the BOT-2 and performance of everyday motor activities as evaluated by parents. This study used data obtained from the German BOT-2 standardisation study (n=1.177). Subtests were compared with theoretically corresponding tasks via parental ratings of overall fine and gross motor abilities and performance in six typical motor activities. Non-parametric Jonckheere Terpstra test was used to identify differences in ordered contrasts. Subtests reflecting 'Strength', 'Running Speed and Agility', 'Upper-Limb Coordination', 'Balance', and 'Fine Motor Precision' were associated with parental evaluation of gross motor skills (p<0.001). The subtest 'Fine Motor Integration' significantly correlated with parental ratings of females' fine motor skills. Parental ratings of males' fine motor skills were associated with three further subtests. Regarding everyday motor activities, the first three fine motor BOT-2 subtests were associated with parent evaluations of drawing, writing and arts and crafts (p<0.001). Gross motor subtests of 'Bilateral Coordination' and 'Balance' showed no relationship to bike riding or performance in sports. Subtests of 'Upper-Limb Coordination' and 'Strength' showed significant correlations with sports, ball games and cycling. The results of this study suggest that the closer the proximity in the nature of the motor skills assessed in the German BOT-2 to daily motor tasks, the stronger the relationship between the clinical test and parental report of everyday performance of their child. The body functions tested in the German BOT-2, and hypothesized to underpin certain skills, were not automatically relevant for specific activities undertaken by German children. Future research should investigate the relationships of the various BOT-2 constructs for diagnosis of DCD.
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http://dx.doi.org/10.1016/j.humov.2016.10.005DOI Listing
June 2017

Adverse Events Following International Normalized Ratio Reversal in Intracerebral Hemorrhage.

Cerebrovasc Dis 2016 19;42(5-6):446-454. Epub 2016 Aug 19.

Department of Neurology, Heidelberg University Hospital, Heidelberg, Germany.

Background: Prothrombin complex concentrates (PCCs) are frequently used to reverse the effect of vitamin K antagonists (VKAs) in patients with non-traumatic intracerebral hemorrhage (ICH). However, information on the rate of thromboembolic events (TEs) and allergic events after PCC therapy in VKA-ICH patients is limited.

Methods: Consecutive VKA-ICH patients treated with PCC at our institution between December 2004 and June 2014 were included into this retrospective observational study. We recorded international normalized ratio (INR) values before and after PCC treatment, baseline clinical characteristics including the premorbid modified Rankin Scale (pmRS) score, TE and allergic event that occurred during the hospital stay. All events were classified by 3 reviewers as being 'related', 'probably related', 'possibly related', 'unlikely related' or 'not related' to treatment with PCC. To identify factors associated with TEs, log-rank analyses were applied.

Results: Two hundred and five patients were included. Median INR was 2.8 (interquartile range (IQR) 2.2-3.8) before and 1.3 (IQR 1.2-1.4) after PCC treatment and a median of 1,500 IU PCC (IQR 1,000-2,500) was administered. Nineteen TEs were observed (9.3%); none were classified 'related' but 9 were classified as 'possibly' or 'probably related' to PCC infusion (4.4%). One allergic reaction (0.5%), 'unlikely related' to PCC, was observed. In the whole cohort, PCC doses >2,000-3,000 IU, ICH volumes >40 ml, National Institute of Health Stroke Scale values >10 and a pmRS >2 were associated with the development of TEs (p = 0.031, p = 0.034, p = 0.050 and p = 0.036, respectively).

Conclusions: Overall, INR reversal with PCC appears safe. Though no clear relationship between higher PCC dosing and TEs was observed, PCC doses between >2,000 and 3,000 IU and higher morbidity at ICH onset were associated with TEs. Hence, individual titration of PCC to avoid exposure to unnecessarily high doses using point-of-care devices should be prospectively explored.
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http://dx.doi.org/10.1159/000448815DOI Listing
December 2017

Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net.

J Pediatr Urol 2017 Apr 13;13(2):183.e1-183.e6. Epub 2016 Jul 13.

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Heidelberg, Germany.

Objective: Standardized knowledge about genital function in adult female individuals with exstrophy-epispadias complex (EEC) is scarce. The aim of this study was to investigate sexual function using the standardized Female Sexual Function Index (FSFI), and to assess the influence of bladder and vaginal reconstruction and the presence of incontinence on FSFI results.

Method: Sixty-one females (aged ≥18 years) recruited by the German multicenter network for congenital uro-rectal malformations (CURE-Net) were asked to complete the FSFI and a self-designed semi-structured questionnaire assessing comprehensive medical data, gynecological, and psychosocial items. Twenty-one eligible females (34%) returned both questionnaires (mean ± standard deviation [SD] age of 26 ± 5.1 years).

Results: In 43% of participants, a staged or single-staged approach had been used for reconstruction, and these had their bladder in use. A primary or secondary urinary diversion (UD) after cystectomy had been performed in 38% of participants. Of the participants, 57% lived in a committed partnership, and 62% had sexual intercourse on a regular basis, with a further 19% experiencing pain or discomfort thereby. Introitus plasty was done in 43%. Mean total FSFI for all participants was 21.3 (SD 1.9). Most domain scores of patients after introitus plasty were similar compared with those without an operative vaginal approach, except for satisfaction (p = 0.057) and pain (p = 0.024). Comparing incontinent with continent patients, significant differences were found for desire (mean 4.6 vs. 3.5, p = 0.021), lubrication (mean 3.1 vs. 4.2, p = 0.049), and satisfaction (mean 1.6 vs. 3.6, p = 0.0065). In contrast pain was not significant between groups.

Conclusions: Sexual activity rate in the present study was similar to that reported in the literature (81% vs. 89%), whereas dyspareunia rate was lower in our cohort (19% vs. 24%). The risk for sexual dysfunction seems to be lower in patients reconstructed with primary or secondary UD than patients with bladder in use. It is surprising that lubrification was better after UD than after bladder neck surgery. Incontinence and in some parts the history of an introitus plasty may play an additional role in development of sexual dysfunction in EEC. Although most of the female EEC patients lived in a committed partnership and had sexual intercourse, total FSFI values <26.55 clearly indicate a risk of sexual dysfunction. Although continence itself played a major role, females reconstructed with UD seem to have better sexual function. Further evaluation of sexual outcome and improvement of care for these patients is mandatory.
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http://dx.doi.org/10.1016/j.jpurol.2016.04.052DOI Listing
April 2017