Objective: Identification of the causative mutation using next-generation sequencing in autosomal-dominant hereditary hearing impairment, as mutation analysis in hereditary hearing impairment by classic genetic methods, is hindered by the high heterogeneity of the disease. Patients: Two Swiss families with autosomal-dominant hereditary hearing impairment. Intervention: Amplified DNA libraries for next-generation sequencing were constructed from extracted genomic DNA, derived from peripheral blood, and enriched by a custom-made sequence capture library. Validated, pooled libraries were sequenced on an Illumina MiSeq instrument, 300 cycles and paired-end sequencing. Technical data analysis was performed with SeqMonk, variant analysis with GeneTalk or VariantStudio. The detection of mutations in genes related to hearing loss by next-generation sequencing was subsequently confirmed using specific polymerase-chain-reaction and Sanger sequencing. Main Outcome Measure: Mutation detection in hearing-loss-related genes. Results: The first family harbored the mutation c.5383+5delGTGA in the TECTA -gene. In the second family, a novel mutation c.2614-2625delCATGGCGCCGTG in the WFS1 -gene and a second mutation TCOF1- c.1028G>A were identified. Conclusion: Next-generation sequencing successfully identified the causative mutation in families with autosomal-dominant hereditary hearing impairment. The results helped to clarify the pathogenic role of a known mutation and led to the detection of a novel one. NGS represents a feasible approach with great potential future in the diagnostics of hereditary hearing impairment, even in smaller labs.
Quantum coherence is the ability of the wavefunctions of two objects to interfere one with another, which requires a fixed phase relationship. In coherent systems, the superposition of quantum states is possible, in which several basis states are simultaneously present. This concept has great fundamental significance as it can be considered, in Schrodinger's words, the characteristic effect of quantum mechanics. In addition to their fundamental interest, such superposition states can be useful for quantum computing, a way of data processing that may be able to treat problems otherwise insolvable with a classical computer.
We study a class of magnetic molecular compounds, called molecular magnets, which are interesting model systems for quantum computation in the solid state using electron spins.
In my thesis we point out the relevance of sizeable quantum coherence for potential applications in quantum information systems. We show how pulsed electron spin resonance techniques can reveal quantitative information about coherence times. The found coherence times of a single-molecule magnet of the Fe4 class were much longer than expected. We studied the field-dependence and temperature dependence of coherence and relaxation times and thus could draw conclusions about the underlying physical processes. We can strongly increase the coherence time by modifying the matrix in which the single-molecule magnets are embedded. The clear observation of Rabi oscillations indicates that we can manipulate the spin coherently, an essential prerequisite for performing quantum computations.
Moreover, we describe a newly developed setup designed to perform electron spin resonance spectroscopy. It combines the high sensitivity of a resonant cavity with the frequency tunability of transmission setups. The unique possibilities of the technique were used to study the spin-forbidden transitions close to the avoided level crossing between two spin states of a molecular magnet.
Quantenkoharenz bezeichnet die Eigenschaft, dass die Wellenfunktionen zweier oder mehrerer Teilchen interferieren konnen. Dies bedingt eine feste Phasenbeziehung zwischen den beteiligten Wellenfunktionen. In koharenten Systemen ist die Uberlagerung von Zustanden moglich, in welchen alle Eigenzustande gleichzeitig vorhanden sind. Dieser Umstand ist seit dem Beginn der Entwicklung der Quantenmechanik bekannt, und hat eine grundlegende Bedeutung fur den Ubergang von der klassischen Physik zur Quantenphysik.
In dieser Arbeit untersuchten wir eine Klasse von magnetischen molekularen Verbindungen, genannt molekulare Magnete, welche interessante Modellsysteme fur Quantencomputing in Festkorpern mit Elektronenspins darstellen. In meiner Arbeit zeigen wir die Relevanz von quantifizierbarer Koharenzzeiten fur mogliche Anwendungen in Quanteninformationssystemen auf. Wir zeigen wie durch gepulste Elektronenspinresonanz diese Zeiten gemessen werden konnen. Die Koharenzzeiten eines Einzelmolekulmagneten der Fe4-Familie waren signifikant langer als erwartet. Wir haben die Feldabhangigkeit und Temperaturabhangigkeit von Koharenz- und Relaxationszeiten untersucht und konnten damit Schlusse uber die zugrundeliegenden physikalischen Mechanismen ziehen. Wir konnten die Koharenzzeiten durch die Variation der Matrix, in welcher sich die Einzelmolekulmagneten befangen, signifikant verlangern. Die Beobachung von Rabi-Oszillationen zeigt, dass wir die Spins koharent manipulieren konnen, welches eine grundlegende Voraussetzung fur die Durchfuhrung von Rechenoperationen in einem Quantencomputer darstellt.
Des weiteren beschreiben wir im Detail eine neuentwickelte Apparatur zur Durchfuhrung von breitbandigen Elektronenspinresonanzmessungen. Die Apparatur kombiniert die hohe Empfindlichkeit eines Hohlraumresonators mit der Frequenzabstimmbarkeit von Transmissionsaufbauten. Diese einzigartigen Eigenschaften wurden zur Untersuchung von spinverbotenen Ubergangen in der Nahe einer vermiedenen Niveaukreuzung zweier Spinzustande eines molekularen Magneten verwendet.
283 In clinical transplantation the lung is the only organ which is left without its own arterial perfusion. With the interruption of the bronchial arteries the nutritive suppo is dependent on collateral flow by the pulmonary artery with desaturated central venous blood. This mechanism might be a trigger for the development of Bronchiolitis obliterans (B0). It was the aim of our study to evaluate the effects of an interruption of the bronchial circulation on the oxygen tension in peribronchial lung tissue. In 6 pigs, after left lateral thoracotomy and preparation of a bronchial artery (BA), tissue oxygen tension in the peribronchial tissue of the left lung was measured using Licox tissue PO2 microprobes. For verification of the model we measured the pO2 in the lymphnodes (Ln) during different inspiratory oxygen concentrations (FiO2). Then the BA was ligated and in a second step the left main bronchus as well as all collateral vessels i.e. the lig. pulmonalis were cut in accordance to the clinical procedure during a lung transplantation. We found the pO2 in the peribronchial tissue dependent on the FiO2. Interruption of the bronchial arterial circulation and of collateral vessels led to a dramatic reduction of the pO2 in the peribrochial tissue. (Table)TableThe oxygen supply of the peribronial tissue is warranted by the bronchial arteries and additional collaterals. The interruption of the bronchial circulation leads to decreased tissue oxygen tension in the peribronchial tissue. Ischemia in the bronchial tissue including the bronchus wall is a cause for airway healing and infectious complications but could be also a trigger for later development of Bronchiolitis obliterans.
Background Septal perforation closure is still often invasive and complex, with relatively low closure rates. Objectives We aimed to provide the first results of a case series of 20 patients with nasal septal perforations who underwent septal perforation repair by both an open and a minimally invasive technique by using a graft that consisted of temporoparietal fascia and a polydioxanone (PDS) plate without mucosal flaps. Between 2014 and 2016, we tested, for the first time, the feasibility of the insertion of this graft via a hemitransfixion incision at our institution. The rationale for the closed approach was to avoid any visible nasal scars. We reported our results of both approaches. Methods The septal perforations were closed by insertion of a graft, which consisted of a 0.25-mm PDS flexible plate enveloped by temporoparietal fascia, into the perforation. The insertion of the graft was performed either via a columellar incision (open approach) or via a cosmetically advantageous hemitransfixion incision (closed approach) in an underlay technique. No attempts were made to close the perforation by mucosal flap rotation and/or advancement. Protective silastic sheeting to both sides of the perforation provided fixation to the graft while natural mucosal healing occurred over the perforation in the course of 3 to 8 weeks. Results Eighteen of 20 perforations were closed by mucosa at the last follow-up. The mean follow-up was 8.7 months. Thirteen patients had surgery via the closed approach. Conclusion We showed, for the first time, that the insertion of a graft that consisted of a PDS flexible plate enveloped in temporoparietal fascia via a hemitransfixion incision was feasible and resulted in complete mucosal closure of nasal septal perforations in most patients. By performing the hemitransfixion incision, we avoided any visible nasal scars.
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We present direct evidence of quantum coherence in a high-spin molecular nanomagnet with coherence times as long as T2 = 630 ns. In addition, we can dramatically increase the coherence time by deliberately modifying the matrix in which the molecular nanomagnets are embedded. We demonstrate that the electron spins are coupled to the proton nuclear spins of both the molecule itself and interestingly, also to those of the solvent. The clear observation of Rabi oscillations indicates that we can manipulate the spin coherently, an essential prerequisite for performing quantum operations.
Abstract In mehreren molekularen Magneten wurde in jüngster Zeit Quantenkohärenz nachgewiesen. Damit sind diese Moleküle vielversprechende Kandidaten für einen Quantencomputer. Zudem werden sie nun intensiv für ein grundlegendes Verständnis der Quantenmechanik genutzt.
