RepoMed (Medizinische Hochschule Hannover)
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Langzeitkomplikationen bei Erwachsenen mit angeborenen Herzfehlern: ist Prädiabetes ein Risikofaktor für das Auftreten einer supraventrikulären Tachykardie?
No full textRemixing Preferences for Western Instrumental Classical Music of Bilateral Cochlear Implant Users
No full textFor people with profound hearing loss, a cochlear implant (CI) is able to provide access to sounds that support speech perception. With current technology, most CI users obtain very good speech understanding in quiet listening environments. However, many CI users still struggle when listening to music. Efforts have been made to preprocess music for CI users and improve their music enjoyment. This work investigates potential modifications of instrumental music to make it more accessible for CI users. For this purpose, we used two datasets with varying complexity and containing individual tracks of instrumental music. The first dataset contained trios and it was newly created and synthesized for this study. The second dataset contained orchestral music with a large number of instruments. Bilateral CI users and normal hearing listeners were asked to remix the multitracks grouped into melody, bass, accompaniment, and percussion. Remixes could be performed in the amplitude, spatial, and spectral domains. Results showed that CI users preferred tracks being panned toward the right side, especially the percussion component. When CI users were grouped into frequent or occasional music listeners, significant differences in remixing preferences in all domains were observed
Untersuchung zum Einfluss des Körpergewichts (BMI) und Gewichtsveränderungen auf das Auftreten und den Krankheitsverlauf einer Amyotrophen Lateralsklerose (ALS)
No full textA novel SCN5A variant causes temperature-sensitive loss of function in a family with symptomatic Brugada syndrome, cardiac conduction disease, and sick sinus syndrome
No full textMolecular signatures discriminating different types of rejection in human liver transplants
No full textThe data comes from bulk RNA sequencing. The samples were acquired and RNA extracted by staff at the Department of Gastroenterology, Hepatology, Infectious Diseases, and Endocrinology at MHH. The FFPE-preserved samples from the Hannover validation cohort were stored at the Institute of Pathology at MHH after being obtained by staff at the above-mentioned department. The samples frm the Barcelona validation cohort were locally stored and RNA was extracted locally. Library preparation and sequencing were performed for the training cohort at the HZI Braunschweig (AG Geffers) and for the validation cohorts by BGI Global (Hong Kong, China). In addition to the raw data (fastq.gz files), count tables (.xls files) are uploaded to the repository.Die Daten stammen aus bulk RNA sequencing. Die Proben wurden von Mitarbeitern der Abteilung für Gastroenterologie, Hepatologie, Infektiologie und Endokrinologie der MHH entnommen und die RNA extrahiert. Die FFPE-konservierten Proben aus der Validierungskohorte (Hannover) wurden nach der Entnahme durch Mitarbeiter der oben genannten Abteilung im Institut für Pathologie der MHH gelagert. Die Proben aus der Validierungskohorte Barcelona wurden vor Ort gelagert und die RNA vor Ort extrahiert. Die Bibliotheksvorbereitung und Sequenzierung wurden für die Trainingskohorte am HZI Braunschweig (AG Geffers) und für die Validierungskohorten von BGI Global (Hongkong, China) durchgeführt. Zusätzlich zu den Rohdaten (fastq.gz-Dateien) werden count tables (.xls-Dateien) in das Repository hochgeladen
A deep intronic mutation causes RAD50 deficiency through an unusual mechanism of distant exon activation
Get PDFThis study identifies and characterizes a novel type of splicing mutation in RAD50 deficiency, a rare genetic disorder
Achievements, priorities and strategies in pediatric nephrology in Europe: need for unifying approaches or acceptance of differences?
Get PDFBackground There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe. Methods In 2020, the European society for Paediatric Nephrology (ESPN) conducted a cross-sectional survey to identify the existing pediatric nephrology healthcare systems in 48 European countries covering a population of more than 200 million children. Results The reported three most important priorities in the care of children with kidney diseases were better training of staff, more incentives for physicians to reduce staff shortages, and more hospital beds. Positive achievements in the field of pediatric nephrology included the establishment of new specialized pediatric nephrology centers, facilities for pediatric dialysis and transplant units in 18, 16, and 12 countries, respectively. The most common problems included no access to any type of dialysis (12), inadequate transplant programs for all ages of children (12), lack of well-trained physicians and dialysis nurses (12), inadequate reimbursement of hospitals for expensive therapies (10), and lack of multidisciplinary care by psychologists, dieticians, physiotherapists, social workers and vocational counsellors (6). Twenty-five of 48 countries (52%) expected to have a shortage of pediatric nephrologists in the year 2025, 63% of clinical nurses and 56% of dialysis nurses. All three groups of health care professionals were expected to be lacking in 38% of countries. Prenatal assessment and postnatal management of renal malformations by a multidisciplinary team including obstetricians, geneticists, pediatricians, and pediatric surgeons was available in one third of countries. Conclusions Our study shows that there are still very marked differences in pediatric health care systems across the European countries and highlights the need need for appropriate services for children with kidney disease in all European countries
Identification and characterization of the functional tetrameric UDP-glucose pyrophosphorylase from Klebsiella pneumoniae
No full textIn all kingdoms of life, the enzyme uridine diphosphate-glucose pyrophosphorylase (UGP) occupies a central role in metabolism, as its reaction product uridine diphosphate-glucose (UDP-Glc) is involved in various crucial cellular processes. Pathogens, including fungi, parasites, and bacteria, depend on UGP for the synthesis of virulence factors; in particular, various bacterial species utilize UDP-Glc and its derivatives for the synthesis of lipopolysaccharides, capsular polysaccharides, and biofilm exopolysaccharides. UGPs have, therefore, gained attention as anti-bacterial drug target candidates, prompting us to study their structure-function relationships to provide a basis for the rational development of specific inhibitors. UGP function is tied to its oligomeric state, and the majority of bacterial homologs have been described as tetramers encoded by the galU gene. Uniquely, enterobacterial species harbor a second gene, galF, encoding a protein with high homology to UGP, whose function is somewhat controversial. Here, we show that the galF gene of the opportunistic pathogen Klebsiella pneumoniae encodes a dimeric protein that has lost UGP activity, likely due to a combination of active site mutations and an inability to tetramerize, whereas the functional K. pneumoniae UGP, encoded by galU, is an active tetramer. Our AlphaFold-assisted structure-function relationship studies underline that tetramerization is essential for bacterial UGP function and is facilitated by a common mechanism utilizing conserved key residues. Targeting the respective molecular interfaces, which are absent in human UGP, could provide a means of selectively inhibiting the bacterial virulence factor UGP and potentially rendering pathogenic species avirulent.IMPORTANCEThe enzyme uridine diphosphate-glucose pyrophosphorylase (UGP) is important for the virulence of bacterial pathogens and, therefore, a potential drug target. In this study, we identify the gene encoding the functional UGP in Klebsiella pneumoniae, a bacterium notoriously causing severe antibiotic-resistant infections in humans, and reveal structural and functional features that may aid in the development of new antibiotics
