Transport in a three-terminal graphene quantum dot in the multi-level regime

We investigate transport in a three-terminal graphene quantum dot. All nine elements of the conductance matrix have been independently measured. In the Coulomb blockade regime accurate measurements of individual conductance resonances reveal slightly different resonance energies depending on which pair of leads is used for probing. Rapid changes in the tunneling coupling between the leads and the dot due to localized states in the constrictions has been excluded by tuning the difference in resonance energies using in-plane gates which couple preferentially to individual constrictions. The interpretation of the different resonance energies is then based on the presence of a number of levels in the dot with an energy spacing of the order of the measurement temperature. In this multi-level transport regime the three-terminal device offers the opportunity to sense if the individual levels couple with different strengths to the different leads. This in turn gives qualitative insight into the spatial profile of the corresponding quantum dot wave functions.Comment: 12 pages, 6 figure

Gamma-sarcoglycanopathy (LGMD 2C) with Del 525T mutation: Report of the first familial case in Niger

We are reporting a familial case of limb-girdle muscular dystrophy (LGMD) upon 5 out of 6 siblings from parents showing no evidence of muscular dystrophy. The pedigree of the family up to five generations did not reveal any known case in the past even though consanguinity was reported. The clinical observations revealed wheelchair bound or difficulties for walking in all affected subjects, due to muscular dystrophy involving mainly the pelvic girdle. Creatine phosphoKinase (CK) was higher than normal values in both affected children and their parents. The scanning of thigh showed in all patients, an atrophy of the quadriceps with fatty conversion. Molecular analysis was carried out, first using western blot, which revealed gammasacoglycan deficiency and second, by gene screening, which showed Del 525T mutation. This mutation is most widespread in arabo-berbères tribes including Touaregs. The present cases are in our knowledge the first reported in that part of Africa, south of Maghreb. We make a focus on histological and molecular bases of the LGMD.Keywords: gamma-sarcoglycanopathy, LGMD 2C, Del 525T mutation, Nige

Tunable few electron quantum dots in InAs nanowires

Quantum dots realized in InAs are versatile systems to study the effect of spin-orbit interaction on the spin coherence, as well as the possibility to manipulate single spins using an electric field. We present transport measurements on quantum dots realized in InAs nanowires. Lithographically defined top-gates are used to locally deplete the nanowire and to form tunneling barriers. By using three gates, we can form either single quantum dots, or two quantum dots in series along the nanowire. Measurements of the stability diagrams for both cases show that this method is suitable for producing high quality quantum dots in InAs.Comment: 8 pages, 4 figure

Coherent Electron-Phonon Coupling in Tailored Quantum Systems

The coupling between a two-level system and its environment leads to decoherence. Within the context of coherent manipulation of electronic or quasiparticle states in nanostructures, it is crucial to understand the sources of decoherence. Here, we study the effect of electron-phonon coupling in a graphene and an InAs nanowire double quantum dot. Our measurements reveal oscillations of the double quantum dot current periodic in energy detuning between the two levels. These periodic peaks are more pronounced in the nanowire than in graphene, and disappear when the temperature is increased. We attribute the oscillations to an interference effect between two alternative inelastic decay paths involving acoustic phonons present in these materials. This interpretation predicts the oscillations to wash out when temperature is increased, as observed experimentally.Comment: 11 pages, 4 figure

Optical Phonon Lasing in Semiconductor Double Quantum Dots

We propose optical phonon lasing for a double quantum dot (DQD) fabricated in a semiconductor substrate. We show that the DQD is weakly coupled to only two LO phonon modes that act as a natural cavity. The lasing occurs for pumping the DQD via electronic tunneling at rates much higher than the phonon decay rate, whereas an antibunching of phonon emission is observed in the opposite regime of slow tunneling. Both effects disappear with an effective thermalization induced by the Franck-Condon effect in a DQD fabricated in a carbon nanotube with a strong electron-phonon coupling.Comment: 8 pages, 4 figure

Switchable Coupling of Vibrations to Two-Electron Carbon-Nanotube Quantum Dot States

We report transport measurements on a quantum dot in a partly suspended carbon nanotube. Electrostatic tuning allows us to modify and even switch 'on' and 'off' the coupling to the quantized stretching vibration across several charge states. The magnetic-field dependence indicates that only the two-electron spin-triplet excited state couples to the mechanical motion, indicating mechanical coupling to both the valley degree of freedom and the exchange interaction, in contrast to standard models

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

\ua9 2023 The Author(s). Published by Oxford University Press on behalf of the European Society of Cardiology.Background and Aims: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3-109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2-60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P =. 49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P =. 09). Conclusions: Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease

Gating a single-molecule transistor with individual atoms

Transistors, regardless of their size, rely on electrical gates to control the conductance between source and drain contacts. In atomic-scale transistors, this conductance is sensitive to single electrons hopping via individual orbitals1, 2. Single-electron transport in molecular transistors has been previously studied using top-down approaches to gating, such as lithography and break junctions1, 3, 4, 5, 6, 7, 8, 9, 10, 11. But atomically precise control of the gate—which is crucial to transistor action at the smallest size scales—is not possible with these approaches. Here, we used individual charged atoms, manipulated by a scanning tunnelling microscope12, to create the electrical gates for a single-molecule transistor. This degree of control allowed us to tune the molecule into the regime of sequential single-electron tunnelling, albeit with a conductance gap more than one order of magnitude larger than observed previously8, 11, 13, 14. This unexpected behaviour arises from the existence of two different orientational conformations of the molecule, depending on its charge state. Our results show that strong coupling between these charge and conformational degrees of freedom leads to new behaviour beyond the established picture of single-electron transport in atomic-scale transistors

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

BACKGROUND AND AIMS: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterise the cardiac complications of EMD variants. METHODS: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidence in male and female variant-carriers was determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared to consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). RESULTS: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers (mean [SD] ages 33.4 [13.3] and 43.3 [16.8] years, respectively). Nine (23.6%) males developed MVA and five (13.2%) developed ESHF during a median [IQR] follow-up of 65.0 [24.3, 109.5] months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median [IQR] age of 58.6 [53.2, 60.4] years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank p = 0.49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank p = 0.09). CONCLUSIONS: Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease

Clinical Heterogeneity of Duchenne Muscular Dystrophy (DMD): Definition of Sub-Phenotypes and Predictive Criteria by Long-Term Follow-Up

International audienceBACKGROUND: To explore clinical heterogeneity of Duchenne muscular dystrophy (DMD), viewed as a major obstacle to the interpretation of therapeutic trials METHODOLOGY/PRINCIPAL FINDINGS: A retrospective single institution long-term follow-up study was carried out in DMD patients with both complete lack of muscle dystrophin and genotyping. An exploratory series (series 1) was used to assess phenotypic heterogeneity and to identify early criteria predicting future outcome; it included 75 consecutive steroid-free patients, longitudinally evaluated for motor, respiratory, cardiac and cognitive functions (median follow-up: 10.5 yrs). A validation series (series 2) was used to test robustness of the selected predictive criteria; it included 34 more routinely evaluated patients (age>12 yrs). Multivariate analysis of series 1 classified 70/75 patients into 4 clusters with distinctive intellectual and motor outcomes: A (early infantile DMD, 20%): severe intellectual and motor outcomes; B (classical DMD, 28%): intermediate intellectual and poor motor outcome; C (moderate pure motor DMD, 22%): normal intelligence and delayed motor impairment; and D (severe pure motor DMD, 30%): normal intelligence and poor motor outcome. Group A patients had the most severe respiratory and cardiac involvement. Frequency of mutations upstream to exon 30 increased from group A to D, but genotype/phenotype correlations were restricted to cognition (IQ>71: OR 7.7, 95%CI 1.6-20.4, p6 at 8 yrs" with "normal or borderline mental status" reliably assigned patients to group C (sensitivity: 1, specificity: 0.94). These criteria were also predictive of "early infantile DMD" and "moderate pure motor DMD" in series 2. CONCLUSIONS/SIGNIFICANCE: DMD can be divided into 4 sub-phenotypes differing by severity of muscle and brain dysfunction. Simple early criteria can be used to include patients with similar outcomes in future therapeutic trials