RepoMed (Medizinische Hochschule Hannover)
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Nanopore Cas9 Targeted Sequencing in High-Functioning Autism - MAGEL2 gene
No full textErhebungsmethode: - Rekrutierung von Erwachsenen mit hochfunktionalem Autismus im Erwachsenenalter über die Spezialsprechstunde Autismus im Erwachsenenalter (Psychiatrische Institutsambulanz der Klinik für Psychiatrie, Sozialpsychiatrie und Psychotherapie der MHH) 07/2021 - 08/2022, Einlagerung von Blutproben (EDTA) über die Hannover Unified Biobank (HUB) - DNA-Extraktion aus peripherem EDTA-Blut (20 Erwachsene mit hochfunktionalem Autismus im Erwachsenenalter, 20 alters- und geschlechtsgematchte Kontrollpersonen) - Nanopore Cas9 targeted sequencing (target: MAGEL2 gene) auf Oxford Nanopore MinION nanopore sequencer mit R9.4,1 flowcells (Labor für Molekulare Neurowissenschaften, Feodor- Lynen- Str. 35, 30625 Hannover) - Auswertung auf MHH - High Perfomance Cluster HPseq (guppy basecalling, minimap2 alignment, longshot single nucleotide Varian / SNV calling, nanopolish 5mC methylation calling) Dateiformat: .bam und .bam.bai (sorted and aligned sequencing data), .vcf (SNV), .tsv (5mC methylation) Referenzen: Gilpatrick, T., Lee, I., Graham, J.E. et al. Targeted nanopore sequencing with Cas9-guided adapter ligation. Nat Biotechnol 38, 433–438 (2020). https://doi.org/10.1038/s41587-020-0407-
Neuronale Veränderungen nach Gabe von Botulinumtoxin A bei Patientinnen mit Borderline-Persönlichkeitsstörung
No full textMotor properties of Myosin 5c are modulated by tropomyosin isoforms and inhibited by pentabromopseudilin
No full textMyosin 5c (Myo5c) is a motor protein that is produced in epithelial and glandular tissues, where it plays an important role in secretory processes. Myo5c is composed of two heavy chains, each containing a generic motor domain, an elongated neck domain consisting of a single α-helix with six IQ motifs, each of which binds to a calmodulin (CaM) or a myosin light chain from the EF-hand protein family, a coiled-coil dimer-forming region and a carboxyl-terminal globular tail domain. Although Myo5c is a low duty cycle motor, when two or more Myo5c-heavy meromyosin (HMM) molecules are linked together, they move processively along actin filaments. We describe the purification and functional characterization of human Myo5c-HMM co-produced either with CaM alone or with CaM and the essential and regulatory light chains Myl6 and Myl12b. We describe the extent to which cofilaments of actin and Tpm1.6, Tpm1.8 or Tpm3.1 alter the maximum actin-activated ATPase and motile activity of the recombinant Myo5c constructs. The small allosteric effector pentabromopseudilin (PBP), which is predicted to bind in a groove close to the actin and nucleotide binding site with a calculated ΔG of -18.44 kcal/mol, inhibits the motor function of Myo5c with a half-maximal concentration of 280 nM. Using immunohistochemical staining, we determined the distribution and exact localization of Myo5c in endothelial and endocrine cells from rat and human tissue. Particular high levels of Myo5c were observed in insulin-producing β-cells located within the pancreatic islets of Langerhans
Differentiation, purification, and characterisation of patient iPSC-derived endothelial cells for Loeys-Dietz-Syndrome disease modelling
No full textAssoziationsstudie und allelspezifische Expressionsanalysen für OSBPL10 und weitere Kandidatengene beim Gebärmutterhalskrebs
No full textTelemedizin ja, bitte oder nein, danke!: Einsatz und Bewertung der Telemedizin in der stationären Vorsorge und Rehabilitation von Müttern und Vätern und deren Kindern
No full textMidwife-Led Mobile Antenatal Clinic: An Innovative Approach to Improve Utilization of Services in Pwani, Tanzania.
Get PDFParticipating in antenatal clinics is a major determinant in reducing poor maternal and neonatal birth outcomes. We aimed to evaluate the utilization of antenatal clinic (ANC) services provided by a mobile clinic led by skilled midwives and determine the acceptability in the Pwani region, Tanzania. For a year, the mobile clinic, nicknamed "Mkunga Kitaani" and equipped with necessary tools and staff, served seven villages in the Kisarawe district that lacked health facilities. The research was conducted using a descriptive study design, incorporating both qualitative and quantitative methods. Qualitative and quantitative data were collected through 12 interviews and 214 medical records among pregnant women, respectively. The results show that approximately 17% of the women initiated ANC early, while 36% made their visit during their third trimester. Participants generally preferred the mobile clinic over traditional facilities due to its provision of comprehensive care. However, challenges such as clinic unreliability during the rainy season and limited availability of tests, including obstetric ultrasounds, were noted. Despite hurdles, the study highlighted increased ANC access and community engagement, suggesting potential for expansion to other underserved rural areas. The findings underscore the importance of innovative approaches to ANC delivery in regions with limited healthcare infrastructure
Antenatal corticosteroids reduce neonatal mortality in settings without assisted ventilatory support: a retrospective cohort study of early preterm births on the Thailand-Myanmar border
Get PDFBackground: Prematurity is the highest risk for under-five mortality globally. The aim of the study was to assess the effect of antenatal dexamethasone on neonatal mortality in early preterm in a resource-constrained setting without assisted ventilation. Methods This retrospective (2008-2013) cohort study in clinics for refugees/migrants on the Thai-Myanmar border included infants born <34 weeks gestation at home, in, or on the way to the clinic. Dexamethasone, 24 mg (three 8 mg intramuscular doses, every 8 hours), was prescribed to women at risk of preterm birth (28 to <34 weeks). Appropriate newborn care was available: including oxygen but not assisted ventilation. Mortality and maternal fever were compared by the number of doses (complete: three, incomplete (one or two), or no dose). A sub-cohort participated in neurodevelopmental testing at one year. Results Of 15,285 singleton births, 240 were included: 96 did not receive dexamethasone and 144 received one, two or three doses (56, 13 and 75, respectively). Of live-born infants followed to day 28, (n=168), early neonatal and neonatal mortality/1,000 livebirths (95%CI) with complete dosing was 217 (121–358) and 304 (190–449); compared to 394 (289–511) and 521 (407–633) with no dose. Compared to complete dosing, both incomplete and no dexamethasone were associated with elevated adjusted ORs 4.09 (1.39 to 12.00) and 3.13 (1.14 to 8.63), for early neonatal death. By contrast, for neonatal death, while there was clear evidence that no dosing was associated with higher mortality, adjusted OR 3.82 (1.42 to 10.27), the benefit of incomplete dosing was uncertain adjusted OR 1.75 (0.63 to 4.81). No adverse impact of dexamethasone on infant neurodevelopmental scores (12 months) or maternal fever was observed. Conclusions Neonatal mortality reduction is possible with complete dexamethasone dosing in pregnancies at risk of preterm birth in settings without capacity to provide assisted ventilation
