117 results match your criteria: "University RWTH Aachen[Affiliation]"

Early mortality in STXBP1-related disorders.

Neurol Sci

October 2024

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, University of Southern Denmark, Dianalund, Denmark.

Article Synopsis
  • Pathogenic variants in the STXBP1 gene are linked to developmental and epileptic encephalopathy (DEE), often resulting in drug-resistant epilepsy and increased mortality risk, primarily from sudden unexpected death in epilepsy (SUDEP).
  • A study analyzed data from 40 individuals with STXBP1 variants who died, revealing a mortality rate of 3.2% and median age of death at 13 years; the leading causes were SUDEP (36%) and respiratory complications (33%).
  • Findings highlight the importance of understanding mortality risks in STXBP1-related disorders, aiding in prognostic evaluations, genetic counseling, and the development of preventative strategies for affected families.
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Benchmarking whole exome sequencing in the German network for personalized medicine.

Eur J Cancer

November 2024

Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany; Centers for Personalized Medicine (ZPM), Germany; Translational Lung Research Center Heidelberg (TLRC), Member of the German Center for Lung Research (DZL), Heidelberg, Germany; German Cancer Consortium (DKTK), Germany. Electronic address:

Article Synopsis
  • Whole Exome Sequencing (WES) is a powerful tool in cancer diagnostics that allows for comprehensive analysis of genes, improving the detection of complex biomarkers compared to traditional panel-based methods.
  • A study analyzing tissue specimens across 21 NGS centers showed that, although there was a 76% agreement in somatic variant calling, refining filtering criteria improved this to 88%, highlighting the importance of filter settings in variant detection.
  • The reliability of detecting specific genomic changes (like CNAs and complex biomarkers) varied among labs, emphasizing the need for improved bioinformatics processes and collaborative testing to minimize discrepancies in future analyses.
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Background: Vertebral and pelvic fractures are associated with a significant burden of negative health and psychosocial outcomes. The number of vertebral and pelvic fractures is increasing in an aging society. Vertebral and pelvic fractures are increasingly significant injuries for individuals and society.

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The piezo surgery was reported to cause minimal trauma to the soft tissue. The aim of this study was to compare the periorbital edema and ecchymosis after transcutaneous lateral osteotomy in rhinoplasty using 2-mm osteotome versus Piezo scalpel respectively. In a randomized clinical trial and split-mouth-design, we performed primary rhinoplasty in 15 patients (7 men, 8 women; age 18-35 years, mean age 26.

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Open-heart surgery is associated with high morbidity, with acute kidney injury (AKI) being one of the most commonly observed postoperative complications. Following open-heart surgery, in an observational study we found significantly higher numbers of blood neutrophils in a group of 13 patients with AKI compared to 25 patients without AKI (AKI: 12.9±5.

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Pathways linking aging and atheroprotection in Mif-deficient atherosclerotic mice.

FASEB J

March 2023

Division of Vascular Biology, Institute for Stroke and Dementia Research (ISD), LMU University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany.

Atherosclerosis is a chronic inflammatory condition of our arteries and the main underlying pathology of myocardial infarction and stroke. The pathogenesis is age-dependent, but the links between disease progression, age, and atherogenic cytokines and chemokines are incompletely understood. Here, we studied the chemokine-like inflammatory cytokine macrophage migration inhibitory factor (MIF) in atherogenic Apoe mice across different stages of aging and cholesterol-rich high-fat diet (HFD).

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Background: The vascularized iliac bone crest flap offers excellent usable bone in terms of volume and quality. Its nourishing vessel, the deep circumflex iliac artery (DCIA), although relatively short, is reliable vessel. Digital subtraction angiography presents still the gold standard for diagnostic purpose.

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In a previous study from our group, argon has shown to significantly attenuate brain injury, reduce brain inflammation and enhance M microglia/macrophage polarization until 7 days after ischemic stroke. However, the long-term effects of argon have not been reported thus far. In the present study, we analyzed the underlying neuroprotective effects and potential mechanisms of argon, up to 30 days after ischemic stroke.

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Comparison of Bone Formation After Sinus Membrane Lifting Without Graft or Using Bone Substitute "Histologic and Radiographic Evaluation".

J Oral Maxillofac Surg

June 2021

Assistant Professor, Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran. Electronic address:

Purpose: Sinus floor elevation without using autogenous bone graft or bone substitute will eliminate donor site morbidity and reduce the cost and the risk of infection. We evaluated the bone gain after sinus membrane elevation without graft or using bone substitute in the same maxilla. Dental implants were inserted simultaneously as a 1-stage procedure.

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Background: New-generation, cell-based assays have demonstrated a robust association of serum autoantibodies to full-length human myelin oligodendrocyte glycoprotein (MOG-IgG) with (mostly recurrent) optic neuritis, myelitis, and brainstem encephalitis, as well as with neuromyelitis optica (NMO)-like or acute-disseminated encephalomyelitis (ADEM)-like presentations. However, only limited data are yet available on cerebrospinal fluid (CSF) findings in MOG-IgG-associated encephalomyelitis (MOG-EM; also termed MOG antibody-associated disease, MOGAD).

Objective: To describe systematically the CSF profile in children with MOG-EM.

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Purpose: The precise assessment of tricuspid regurgitation (TR) using 2D imaging techniques may be associated with significant difficulties due to the nonround regurgitation area. Direct analysis of the regurgitation area by 3D color Doppler echocardiography at the vena contracta (3D VCA) has the potential to adequately quantify even complex TR. This study compared 3D VCA for quantification of the TR with the regurgitant area determined by proximal isovolumetric convergence method (PISA-EROA) considering different clinical settings.

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Clinical and imaging features of children with autoimmune encephalitis and MOG antibodies.

Neurol Neuroimmunol Neuroinflamm

July 2020

From the Department of Radiology (A.W.-P., R.C.), Children's Hospital Datteln, University Witten/Herdecke; Department of Pediatrics (E.-M.W.), Olgahospital, Klinikum Stuttgart, Germany; Division of Pediatric Neurology (M. Baumann, C.L.), Department of Pediatrics I, Medical University of Innsbruck, Austria; Department of Pediatric Neurology (A.B., K.R.), Children's Hospital Datteln, University Witten/Herdecke; Department of Pediatrics (M.H.), Division of Neuropediatrics and Social Pediatrics, Medical University RWTH Aachen, Germany; Charité-Universitätsmedizin Berlin (E.K.), Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Germany; Department of Neuropediatrics (E.K.), Berlin, Germany; Department of Pediatrics and Adolescent Medicine (E.R.-F., M. Breu), Medical University of Vienna; St. Anna Children´s Hospital (E.R.-F.), Vienna, Austria; Klinik für Kinder und Jugendmedizin (Ö.S.), Evangelisches Krankenhaus Hamm, Germany; Department of Neuropediatrics (A.D.M.), Developmental Neurology and Social Pediatrics, Children's Hospital, University of Duisburg-Essen, Germany; Department of Pediatrics (R.P.), Christliches Kinderhospital Osnabrück, Germany; Department of Pediatric Neurology (M.P.), Children's Hospital Auf der Bult, Hannover Germany; Department of Neonatology (C.R.), Pediatric Intensive Care, Sleep Medicine, Children's Hospital Datteln, University Witten/Herdecke, Germany; Institute of Neurology (R.H.), Medical University of Vienna, Austria; Neuroimmunology (F.L.), Institute of Clinical Chemistry and Department of Neurology, Christian-Albrechts-University Kiel and Medical University Hospital Schleswig-Holstein, Germany; and Clinical Department of Neurology (M.R.), Medical University of Innsbruck, Austria.

Article Synopsis
  • - The study aimed to examine the clinical presentations, imaging characteristics, and outcomes of children diagnosed with autoimmune encephalitis (AE) linked to myelin oligodendrocyte glycoprotein antibodies (MOG abs).
  • - Researchers reviewed medical charts and conducted testing on ten children aged 4 to 16 years who tested positive for serum MOG abs, finding common symptoms like encephalopathy, headaches, and seizures, along with notable CSF changes and specific brain imaging results.
  • - Most children had good outcomes after treatment, but some experienced additional demyelinating relapses, leading to the conclusion that MOG abs testing should be considered in suspected cases of AE in pediatric patients.
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In multivariate analysis, GS of the regular prostatectomy specimen was the only statistically significant parameter for pT2R1 prostate cancer.

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Psychiatric outcome at least 20 years after trauma: A survey on the status of subjective general health and psychiatric symptoms with a focus on posttraumatic stress disorder.

J Trauma Acute Care Surg

June 2019

From the Department of Trauma (S.H., H.T., F.A., S.T., H.-C.P., R.P.), University Hospital Zurich, University of Zurich, Zurich, Switzerland; Medical University RWTH Aachen (A.T.L.), Aachen, Germany; Department of Consultation-Liaison Psychiatry and Psychosomatic Medicine (R.v.K., K.R.), University Hospital Zurich, University of Zurich, Zurich, Switzerland; and Department of Orthopedic Surgery, University of Texas Health Science Center at San Antonio (B.Z.), San Antonio, Texas.

Background: Information on long-term psychiatric sequelae after severe trauma is sparse. We therefore performed a survey addressing several symptoms related to posttraumatic stress disorder (PTSD) in patients who sustained multiple injuries more than 20 years after trauma.

Methods: Patients injured between January 1, 1973, and December 31, 1990, were contacted at least 20 years later.

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Background: Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. So far, mutations in two genes have been identified as causative. The SLC3A1/rBAT gene encodes the heavy subunit of the heterodimeric rBAT-bAT transporter, whereas the light chain is encoded by the SLC7A9/ bAT gene.

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Vascularised fatty tissue: its role in prevention of the symptoms of Frey syndrome after parotidectomy.

Br J Oral Maxillofac Surg

November 2018

Department of Hearing Disorders Research Center, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

We studied 37 consecutive patients who had parotidectomies between 2008 and 2017 and who had vascular fat flaps inserted to replace the excised parotid tissue and prevent Frey syndrome. They were followed up for 1-9 years to check for the relevant symptoms. We studied 17 female and 20 male patients, mean age 52 (range 19-78) years.

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Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is the second most common cause of primary amenorrhea and characterized by absence of the uterus and the upper part of the vagina. The etiology of MRKH is mainly unknown but a contribution of genomic alterations is probable. A molecular disturbance so far neglected in MRKH research is aberrant methylation at imprinted loci.

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The inflammatory cytokine macrophage migration-inhibitory factor (MIF) promotes atherosclerosis via lesional monocyte and T-cell recruitment. B cells have emerged as important components in atherogenesis, but the interaction between MIF and B cells in atherogenesis is unknown. Here, we investigated the atherosclerotic phenotype of Mif-gene deletion in Apoe mice.

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Patient-Specific Topographic Anatomy of the Deep Circumflex Iliac Artery Flap: Comparing Standard and Modified Computed Tomographic Angiography.

J Oral Maxillofac Surg

July 2018

Oral and Maxillofacial Surgery Consultant, Klinikum-Lippe, Detmold, Germany; Teaching Hospital of Georg-August-University Göttingen, Göttingen, Germany; and Medical Faculty, University RWTH Aachen, Aachen, Germany. Electronic address:

Purpose: Computed tomographic angiography (CTA) is reported to give insight into patient-specific anatomy of the flap pedicle preoperatively. We compared information available from standard CTA (s-CTA) with that gained by modifying the conventional CTA technique (modified CTA [m-CTA]). Dissected cadavers served as the control group.

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A non-language-specific speech test to evaluate the speech of cleft patients from different language and cultural backgrounds - A pilot study.

J Craniomaxillofac Surg

January 2018

Oral and Maxillofacial Surgery, Klinikum-Lippe, Röntgenstr. 18, 32756 Detmold, Teaching Hospital, Georg-August-University Göttingen, Germany; Medical Faculty University RWTH-Aachen, Pauwelsstraße 30, 52074 Aachen, Germany. Electronic address:

Cleft speech tests are not universally available. We developed a tool to fill this gap, especially in the context of a cleft mission setting. We performed a pilot study to evaluate the test's ability to differentiate between the speech of cleft patients and healthy individuals from three different language backgrounds.

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Background: Dexamethasone and tranexamic acid are used to decrease post-rhinoplasty periorbital edema and ecchymosis. We compared the impact of each medication separately or in combination in this regard.

Methods: A prospective, randomized triple-blinded study was undertaken on 60 patients who underwent primary open rhinoplasty.

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The renoprotective properties of xenon and argon in kidney transplantation.

Eur J Anaesthesiol

October 2017

From the Department of Surgery and Cancer, Faculty of Medicine, Chelsea and Westminster Hospital, Imperial College London, London, UK (HZ, DM), and Department of Anaesthesiology, University RWTH Aachen, Aachen, Germany (RR, MC).

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Preeclampsia (PE) affects 2-5% of all pregnancies. It is a multifactorial disease, but it has been estimated that 35% of the variance in liability of PE are attributable to maternal genetic effects and 20% to fetal genetic effects. PE has also been reported in women delivering children with Beckwith-Wiedemann syndrome (BWS, OMIM 130650), a disorder associated with aberrant methylation at genomically imprinted loci.

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Maternal uniparental disomy of chromosome 16 [upd(16)mat] as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate between features resulting from upd(16)mat and mosaic trisomy 16. By evaluating literature data (n = 74) and three own cases we aimed to determine whether the clinical features are due to upd(16)mat or to trisomy 16 mosaicism.

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