Near-zero distortion in TCSPC at more than one photon per excitation period: experimental validation.

The time-correlated single-photon counting (TCSPC) technique is widely renowned for its capability of reconstructing rapid and weak light signals with exceptional sensitivity and sub-picosecond timing resolution. Unfortunately, the speed of TCSPC has been historically severely limited to avoid a phenomenon known as pileup distortion. For this reason, the count rate of a classic TCSPC acquisition channel is kept below a few percent of the laser excitation rate (usually 1%-5%).

Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.

Purpose: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs).

Methods: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high prevalence of HCM. Among these, NM_002880.

Trace Element Concentration in the Blood and Aqueous Humor of Subjects with Eye Cataract.

Cataract, characterized by the opacification of the lens, is the leading cause of reversible blindness and visual impairment globally. The study aims to investigate the role of trace elements such as Cd, Co, Cr, Cu, Fe, Hg, Mn, Ni, Pb, Se, and Zn in the development and severity of cataract. Elements were quantified by inductively coupled plasma mass spectrometry in blood and aqueous humor of 32 cataract cases and 27 controls living in the Latium region, Italy.

Brief communication: global temporal trends in the efficacy of clarithromycin-based regimens for the treatment of infection.

Background: eradication rates achieved with clarithromycin-based triple therapies are declining due to antibiotic resistance, but data regarding temporal changes in efficacy with these eradication therapies are scarce.

Objective: To evaluate the efficacy of clarithromycin-based triple eradication regimens over time.

Design: A comprehensive literature review and time-trend analysis.