Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study.

Background: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD.

Methods: In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries.

An improved synthetic signal injection routine for the Haloscope At Yale Sensitive To Axion Cold dark matter (HAYSTAC).

Microwave cavity haloscopes are among the most sensitive direct detection experiments searching for dark matter axions via their coupling to photons. When the power of the expected microwave signal due to axion-photon conversion is on the order of 10-24 W, having the ability to validate the detector response and analysis procedure by injecting realistic synthetic axion signals becomes helpful. Here, we present a method based on frequency hopping spread spectrum for synthesizing axion signals in a microwave cavity haloscope experiment.

A quantum enhanced search for dark matter axions.

The manipulation of quantum states of light holds the potential to enhance searches for fundamental physics. Only recently has the maturation of quantum squeezing technology coincided with the emergence of fundamental physics searches that are limited by quantum uncertainty. In particular, the quantum chromodynamics axion provides a possible solution to two of the greatest outstanding problems in fundamental physics: the strong-CP (charge-parity) problem of quantum chromodynamics and the unknown nature of dark matter.

Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options.

Background: In vitro fertilization with preimplantation genetic testing is a growing reproductive option for people who want to avoid passing a single-gene condition on to their offspring. The spinocerebellar ataxias are a group of rare, autosomal-dominant neurodegenerative disorders which are strong candidates for the use of this technology.

Objectives: This study aimed to assess knowledge of genetic risk and perceptions of reproductive options in individuals with a diagnosis of spinocerebellar ataxia.

Comparing musicians and non-musicians in signal-in-noise perception.

The objective is to compare musicians and non-musicians in signal-in-noise perception. Participants underwent the following tests: (1) High-frequency (HF) audiometry, (2) QuickSIN (a test for speech perception in noise), and (3) Binaural Masking Level Difference (BMLD) test (a test that examines the hearing threshold of a low-frequency tone from noise masking when the phase of the signal or noise in one ear is reversed with respect to the phase of the signal or noise in the other ear, i.e.