A5022733569- Congenital gastrointestinal and neural anomalies
- Esophageal and GI Pathology
- Urological Disorders and Treatments
- Gastrointestinal disorders and treatments
- Intestinal Malrotation and Obstruction Disorders
- Pelvic floor disorders treatments
- Congenital Diaphragmatic Hernia Studies
- Anorectal Disease Treatments and Outcomes
- Pediatric Urology and Nephrology Studies
- Tracheal and airway disorders
- Bladder and Urothelial Cancer Treatments
- Genomic variations and chromosomal abnormalities
- Congenital Anomalies and Fetal Surgery
- Urinary Bladder and Prostate Research
- Renal and related cancers
- Assisted Reproductive Technology and Twin Pregnancy
- Hernia repair and management
- Urinary and Genital Oncology Studies
- Congenital Ear and Nasal Anomalies
- Neonatal Respiratory Health Research
- Diverticular Disease and Complications
- Childhood Cancer Survivors' Quality of Life
- Pancreatic and Hepatic Oncology Research
- Prenatal Screening and Diagnostics
- Cleft Lip and Palate Research
Klinikum Bremen-Mitte
2015-2024
Triangle
2019
Indianapolis Zoo
2019
Kentucky Science Center
2019
National Center on Birth Defects and Developmental Disabilities
2019
University of Bonn
2011-2013
University Hospital Bonn
2012
Children's Hospital
2011
Ontario Centre of Excellence for Child and Youth Mental Health
2011
The ARM-Net (anorectal malformation network) consortium held a consensus meeting in which the classification of ARM and preoperative workup were evaluated with aim improving monitoring treatment outcome. Krickenbeck suggested by Levitt Peña, used as template, discussed, collaborative was achieved. is appropriate describing for clinical use. slightly modified. In males visible fistula, no cross-table lateral X-ray needed an anoplasty or (mini-) posterior sagittal anorectoplasty can directly...
The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing combined research activities. consortium attempts recruit at least 1,000 ARM cases. DNA samples are collected from case–parent triads involved ARM. Several techniques will be applied, including SNP arrays, gene whole exome sequencing, a...
objectives were to investigate the relations between associated anomalies and ARM types, timing of reconstructive surgery. Subjects data collectionARM patients under 18 years age treated in one ARM-Net Consortium registered registry until 1 March 2023 included.Each centre has a lead paediatric surgeon who is responsible for patient registration collection at their respective centre.Patient are de-identified pseudonymized before collection.Surgeons can only re-identify own with personal...
In 2017, the European Commission launched 24 Reference Networks (ERNs). ERN eUROGEN is network for urorectogenital diseases and complex conditions, started with 29 full member healthcare providers (HCPs) in 11 countries. It then covered 19 different disease areas distributed over three workstreams (WSs).To provide an overview identify challenges data collection at level of patient population treated by HCPs network.A retrospective cohort study was conducted who were members between 2013...
In the past, an anteriorly located anus was often misdiagnosed and treated as anorectal malformation (ARM) with a perineal fistula (PF). The paper aims to define criteria for normal anus, anterior (AA) anatomic variant, milder types of ARM such congenital anal stenosis (CAS) PF. An extensive literature search performed by working group ARM-Net Consortium concerning subject "Normal Anus, AA, mild ARM". A consensus on definitions, clinical characteristics, diagnostic management, treatment...
Abstract Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40–50% cases, ARM occurs within the context defined genetic syndromes or multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac [C], tracheoesophageal fistula with without esophageal atresia [TE], renal [R], and limb [L]) association. Here, we report identification deletions at chromosome 13q using single...
Previous studies in xenopus and zebrafish (zf) provide a detailed description of the embryonic role phosphate transporter slc20a1a early pronephric kidney formation. The recent identification SLC20A1 as monoallelic candidate gene for cloacal exstrophy further suggests its involvement lower urinary tract urorectal development. However, knowledge about formation is poor. To broaden our understanding impact development we induced morpholino oligonucleotide (MO) knockdown orthologue slc20a1a....
Abstract Background The use of assisted reproductive techniques (ART) for treatment infertility is increasing rapidly worldwide. However, various health effects have been reported including a higher risk congenital malformations. Therefore, we assessed the anorectal malformations (ARM) after in-vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Methods Data German Network Congenital Uro-REctal (CURE-Net) were compared to nationwide data IVF register Federal Statistical...
Anorectal malformations (ARMs) comprise a broad spectrum of anomalies, including anal atresia, congenital fistula and persistence the cloaca. Research suggests that genetic factors play an important role in ARM development. However, few variants have been identified. Embryogenesis is orchestrated by crosstalk wingless-type MMTV integration site family (WNT) fibroblast growth factor (FGF) signaling pathways process involves several intracellular cascades. Studies mice implicated genes from...
Background: The VATER/VACTERL association (VACTERL) is defined as the non-random occurrence of following congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb anomalies. As no unequivocal candidate gene has been identified yet, patients are diagnosed phenotypically. aims this study were to identify with monogenic disorders using a genetics-first approach, whether variants in genes involved etiology VACTERL or individual features VACTERL: Anorectal malformation...
We assessed the risk of exstrophy-epispadias complex in children conceived by vitro fertilization or intracytoplasmic sperm injection.Data from German Network for Congenital Uro-REctal malformations were compared to nationwide data In Vitro Fertilization Register and Federal Statistical Office. Odds ratios (95% CI) determined quantify associations using logistic regression.A total 123 patients with born Germany between 1997 2011 recruited through participating departments pediatric urology...