On the Zero-Bias Anomaly in Quantum Wires

Undoped GaAs/AlGaAs heterostructures have been used to fabricate quantum wires in which the average impurity separation is greater than the device size. We compare the behavior of the Zero-Bias Anomaly against predictions from Kondo and spin polarization models. Both theories display shortcomings, the most dramatic of which are the linear electron-density dependence of the Zero-Bias Anomaly spin-splitting at fixed magnetic field B and the suppression of the Zeeman effect at pinch-off

Contact force sensing in ablation of ventricular arrhythmias using a 56-hole open-irrigation catheter: a propensity-matched analysis.

PURPOSE: The effect of adding contact force (CF) sensing to 56-hole tip irrigation in ventricular arrhythmia (VA) ablation has not been previously studied. We aimed to compare outcomes with and without CF sensing in VA ablation using a 56-hole radiofrequency (RF) catheter. METHODS: A total of 164 patients who underwent first-time VA ablation using Thermocool SmartTouch Surround Flow (TC-STSF) catheter (Biosense-Webster, Diamond Bar, CA, USA) were propensity-matched in a 1:1 fashion to 164 patients who had first-time ablation using Thermocool Surround Flow (TC-SF) catheter. Patients were matched for age, gender, cardiac aetiology, ejection fraction and approach. Acute success, complications and long-term follow-up were compared. RESULTS: There was no difference between procedures utilising either TC-SF or TC-STSF in acute success (TC-SF: 134/164 (82%), TC-STSF: 141/164 (86%), p = 0.3), complications (TC-SF: 11/164 (6.7%), TC-STSF: 11/164 (6.7%), p = 1.0) or VA-free survival (TC-SF: mean arrhythmia-free survival time = 5.9 years, 95% CI = 5.4-6.4, TC-STSF: mean = 3.2 years, 95% CI = 3-3.5, log-rank p = 0.74). Fluoroscopy time was longer in normal hearts with TC-SF (19 min, IQR: 14-30) than TC-STSF (14 min, IQR: 8-25; p = 0.04). CONCLUSION: Both TC-SF and TC-STSF catheters are safe and effective in treating VAs. The use of CF sensing catheters did not improve safety or acute and long-term outcomes, but reduced fluoroscopy time in normal heart VA

Leopard syndrome

LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4–5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable

Low Temperature Transport in Undoped Mesoscopic Structures

Using high quality undoped GaAs/AlGaAs heterostructures with optically patterned insulation between two layers of gates, it is possible to investigate very low density mesoscopic regions where the number of impurities is well quantified. Signature appearances of the scattering length scale arise in confined two dimensional regions, where the zero-bias anomaly (ZBA) is also observed. These results explicitly outline the molecular beam epitaxy growth parameters necessary to obtain ultra low density large two dimensional regions as well as clean reproducible mesoscopic devices.Comment: 4 pages, 4 EPS fig

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement

Recessive mutations in the MSTO1 gene, encoding for a mitochondrial distribution and morphology regulator, have been recently described in a very limited number of patients with multisystem involvement, mostly characterized by myopathy or dystrophy, cerebellar ataxia, pigmentary retinopathy and raised creatine kinase levels. Here we report an additional patient with recessive MSTO1-related muscular dystrophy (MSTO1-RD), and clinical and radiological evidence of progressive cerebellar involvement. Whole-exome sequencing identified two novel MSTO1 missense variants, c.766C > T (p. (Arg256Trp) and c.1435C > T (p. (Pro479Ser), predicted as damaging by in silico tools. We also report a distinct pattern of selective involvement on muscle MRI in MSTO1-RD. This case confirms a consistent MSTO1-related neuromuscular phenotype and in addition suggests a progressive neurological component at least in some patients, in keeping with the mitochondrial role of the defective protein

Personalised therapy in follicular lymphoma - is the dial turning?

Follicular lymphoma is the most common indolent lymphoma accounting for approximately 20%–25% of all new non-Hodgkin lymphoma diagnoses in western countries. Whilst outcomes are mostly favorable, the spectrum of clinical phenotypes includes high-risk groups with significantly inferior outcomes. This review discusses recent updates in risk stratification and treatment approaches from upfront treatment for limited and advanced stage follicular lymphoma to the growing options for relapsed, refractory disease with perspectives on how to approach this from a personalized lens. Notable gaps remain on how one can precisely and prospectively select optimal treatment for patients based on varying risks, with an anticipation that an increased understanding of the biology of these different phenotypes and increasing refinement of imaging- and biomarker-based tools will, in time, allow these gaps to be closed

Ultra-shallow quantum dots in an undoped GaAs/AlGaAs 2D electron gas

We report quantum dots fabricated on very shallow 2-dimensional electron gases, only 30 nm below the surface, in undoped GaAs/AlGaAs heterostructures grown by molecular beam epitaxy. Due to the absence of dopants, an improvement of more than one order of magnitude in mobility (at 2E11 /cm^2) with respect to doped heterostructures with similar depths is observed. These undoped wafers can easily be gated with surface metallic gates patterned by e-beam lithography, as demonstrated here from single-level transport through a quantum dot showing large charging energies (up to 1.75 meV) and excited state energies (up to 0.5 meV).Comment: 4 pages, 4 figures; added figures, references, equations, and text; results/conclusions otherwise unchange