260 research outputs found

    Molecular basis of aortic diseases

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    Clinical sequencing: is WGS the better WES?

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    Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. However, capturing has limitations in sufficiently covering coding exons, especially GC-rich regions. We compared whole exome sequencing (WES) with the most recent PCR-free whole genome sequencing (WGS), showing that only the latter is able to provide hitherto unprecedented complete coverage of the coding region of the genome. Thus, from a clinical/technical point of view, WGS is the better WES so that capturing is no longer necessary for the most comprehensive genomic testing of Mendelian disorders

    Análisis de la tasa de reroturas del LCA en diferentes técnicas quirúrgicas.

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    25 p.El objetivo de nuestra revisión es identificar qué técnica de reconstrucción del LCA (respecto autólogos y aloinjertos) tiene mejor resultado y menores tasas de reroturas en pacientes de entre dieciocho y cuarenta y cinco años de edad, preferiblemente en aquellos que hagan deporte. Hemos dividido la revisión de dos maneras siendo el objetivo principal evaluar los resultados funcionales y complicaciones de los autoinjertos y aloinjertos; y siendo el objetivo secundario evaluar los resultados funcionales y complicaciones de los injertos de tendón rotuliano respecto los injertos de los isquiotibiales. Llevamos a cabo una revisión sistemática basada en un nivel de evidencia desde I a IV en las bases de datos de PubMed, WOS, Scopus, Scielo, EBUAH entre otras. Nuestra hipótesis principal: los injertos autólogos presentan menor tasa de re-roturas que los aloinjertos y secundaria: dentro de los autotrasplantes, los injertos rotulianos tienen menor tasa de re-roturas que los isquiotibiales, fue comprobado y confirmado en nuestra revisiónThe aim of our review is to identify which reconstruction technique has superior functional outcome and inferior number of complications for the ACL (specifically autografts and allografts) in people aged between eighteen and forty-five preferably in athletes ones. We have structured our review in two sections: our primary objective is to evaluate the functional results and complications of autografts compared to allografts; our secondary objective is to evaluate the functional results and complications of bone-patellar tendon bone (BPTB) autografts compared to hamstring tendon autografts (HT). We conducted a systematic review (SR) based on level of evidence: I-IV provided by PubMed, WOS, Scopus, Scielo, EBUAH database. Our main hypothesis: autografts have a lower re-rupture rate than allografts and our secondary one: within autografts, BPTB have lower re-rupture rate than hamstring tendon autografts; was verified and confirmed in our reviewGrado en Medicin

    «Teaching» in der Medizin: leicht zu lernen!

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    CBMEJede Ärztin und jeder Arzt geben Wissen weiter, so selbstverständlich wie fast jeder schwimmen kann. Nicht alle wollen dabei Medaillen gewinnen – ebenso wie beim Lehren in der Medizin. Basiskompetenzen sind jedoch einfach zu erwerben und müssen nicht dem Zufall überlassen werden. Dieser Beitrag skizziert Grundprinzipien des Lehrens und zeigt Wege zur individuellen Weiterentwicklung auf

    Liver fat in adults with GH deficiency: comparison to matched controls and the effect of GH replacement

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    CONTEXT: Existing data regarding the association between growth hormone deficiency (GHD) and liver fat content are conflicting. OBJECTIVE: We aimed i) to assess intrahepatocellular lipid (IHCL) content in hypopituitary adults with GHD compared to matched controls and ii) to evaluate the effect of growth hormone (GH) replacement on IHCL content. DESIGN: Cross-sectional comparison and controlled intervention study. PATIENTS, PARTICIPANTS: Cross-sectional comparison: 22 hypopituitary adults with GHD and 44 healthy controls matched for age, BMI, gender and ethnicity. Intervention study: 9 GHD patients starting GH replacement (GH Rx group), 9 GHD patients not starting replacement therapy (non-GH Rx group). INTERVENTION: Intervention study:GH replacement for 6 months in the GH Rx group, dosage was titrated to achieve normal IGF-1 levels. MAIN OUTCOME MEASURES: IHCL content determined by proton magnetic resonance spectroscopy (1 H MRS). RESULTS: Cross-sectional comparison: There was no difference in IHCL content between GHD patients and healthy controls (1.89% (0.30, 4.03) vs. 1.14% (0.22, 2.32); p=0.2), the prevalence of patients with hepatic steatosis (IHCL of ≥ 5.56%) was similar in the two groups (22.7% vs. 15.9%; chi square probability = 0.4). Intervention study: The change in IHCL content over 6 months did not differ between the GH Rx group and the non-GH Rx group (-0.63 ± 4.53% vs. +0.11 ± 1.46%; p=0.6). CONCLUSIONS: In our study liver fat content and the prevalence of hepatic steatosis did not differ between hypopituitary adults with GHD and matched controls. In GHD patients GH replacement had no effect on liver fat content

    The Meaning of SARS-CoV-2 Antibodies in a Patient with a Systemic Reaction to the mRNA-1273 SARS-CoV-2 Vaccine after Previous Natural Immunization

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    Objectives: There is limited experience regarding the meaning of SARS-CoV-2 antibodies after vaccination in patients with naturally acquired immunity. Methods: We describe the case of a patient who received the first dose of the mRNA-1273 SARS-CoV-2 vaccine 6 months after his recovery from moderately severe COVID-19. Results: Our patient had a positive nucleocapsid SARS-CoV-2 IgG/IgM titre with 78.7 multiple of cut-off indicating persistent humoral immune response 6 months after infection. After vaccination, he developed prolonged systemic symptoms (fever, fatigue, nausea, diarrhoea and myalgia) for a duration of 6 days. Conclusion: SARS-CoV-2 nucleocapsid antibodies provide information about naturally acquired immunity. For the assessment of immune response to vaccination, measurement of the SARS-CoV-2 spike antibody titre before and after vaccination is essential. Patients with naturally acquired immunity might develop a prolonged systemic reaction to the first dose of the mRNA-1273 SARS-CoV-2 vaccine

    New insights into the performance of human whole-exome capture platforms

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    Whole exome sequencing (WES) is increasingly used in research and diagnostics. WES users expect coverage of the entire coding region of known genes as well as sufficient read depth for the covered regions. It is, however, unknown which recent WES platform is most suitable to meet these expectations. We present insights into the performance of the most recent standard exome enrichment platforms from Agilent, NimbleGen and Illumina applied to six different DNA samples by two sequencing vendors per platform. Our results suggest that both Agilent and NimbleGen overall perform better than Illumina and that the high enrichment performance of Agilent is stable among samples and between vendors, whereas NimbleGen is only able to achieve vendor- and sample-specific best exome coverage. Moreover, the recent Agilent platform overall captures more coding exons with sufficient read depth than NimbleGen and Illumina. Due to considerable gaps in effective exome coverage, however, the three platforms cannot capture all known coding exons alone or in combination, requiring improvement. Our data emphasize the importance of evaluation of updated platform versions and suggest that enrichment-free whole genome sequencing can overcome the limitations of WES in sufficiently covering coding exons, especially GC-rich regions, and in characterizing structural variant
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