LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?

Bardet-Biedl syndrome (BBS) is an inherited ciliopathy affecting multiple organs and systems with wide clinical and genetic heterogeneity. To date, biallelic variants of the LZTFL1 gene have been reported only in six patients with BBS. We identified a homozygous LZTFL1 nonsense variant in a boy presenting with classical BBS features.

Piezoelectric Yield of Single Electrospun Poly(acrylonitrile) Ultrafine Fibers Studied by Piezoresponse Force Microscopy and Numerical Simulations.

Quantitative converse piezoelectric coefficient () mapping of polymer ultrafine fibers of poly(acrylonitrile) (PAN), as well as of poly(vinylidene fluoride) (PVDF) as a reference material, obtained by rotating electrospinning, was carried out by piezoresponse force microscopy in the constant-excitation frequency-modulation mode (CE-FM-PFM). PFM mapping of single fibers reveals their piezoelectric activity and provides information on its distribution along the fiber length. Uniform behavior is typically observed on a length scale of a few micrometers.

Exciton Dephasing by Phonon-Induced Scattering between Bright Exciton States in InP/ZnSe Colloidal Quantum Dots.

Decoherence or dephasing of the exciton is a central characteristic of a quantum dot (QD) that determines the minimum width of the exciton emission line and the purity of indistinguishable photon emission during exciton recombination. Here, we analyze exciton dephasing in colloidal InP/ZnSe QDs using transient four-wave mixing spectroscopy. We obtain a dephasing time of 23 ps at a temperature of 5 K, which agrees with the smallest line width of 50 μeV we measure for the exciton emission of single InP/ZnSe QDs at 5 K.

SARS-CoV-2 saliva testing is a useful tool for Covid-19 diagnosis.

SARS-CoV-2 is the etiologic agent of coronavirus disease 2019 (COVID-19) and is mainly detected by RT-PCR methods from upper respiratory specimens, as recommended by the World Health Organization. Oro/nasopharyngeal swabbing can be discomfortable to the patients, requires trained healthcare personnel and may generate aerosol, increasing the risk of nosocomial infections. In this study, we describe two SARS-CoV-2 RNA extraction-free single RT-PCR protocols on saliva samples and compared the results with the paired oro/nasopharyngeal swab specimens from 400 patients.

Performance evaluation of the fully automated molecular system Alinity m in a high-throughput central laboratory.

Background: New partially or fully automated molecular diagnostic testing platforms are being developed to address the growing demand for fast, accurate, and cost-effective testing.

Objectives: To evaluate the analytical and clinical performance of the Alinity m system compared to the Abbott RealTime m2000 assay system in a large central molecular laboratory.

Study Design: Alinity m HIV-1, HCV, and HBV assay precision, reproducibility, and sensitivity were assessed using commercial customized dilution panels.