Severe neonatal hypotonia due to variant affecting function of ZnT5 zinc transporter.

The tightly-regulated spatial and temporal distribution of zinc ion concentrations within cellular compartments is controlled by two groups of Zn transporters: the 14-member ZIP/SLC39 family, facilitating Zn influx into the cytoplasm from the extracellular space or intracellular organelles; and the 10-member ZnT/SLC30 family, mobilizing Zn in the opposite direction. Genetic aberrations in most zinc transporters cause human syndromes. Notably, previous studies demonstrated osteopenia and male-specific cardiac death in mice lacking the ZnT5/ zinc transporter, and suggested association of two homozygous frameshift variants with perinatal mortality in humans, due to hydrops fetalis and hypertrophic cardiomyopathy.

Protocol for assessing T cell receptor-mediated human T cell cytotoxicity.

Measuring the cytotoxicity of human T cells is a valuable but challenging task. We present a protocol for assessing the ability of polyclonal human T cells to kill target cells upon T cell receptor (TCR) triggering. We describe steps for preparing L and T cells for the assay and incubation of target cells with effector cells.

Characterizing Vocal Hyperfunction Using Ecological Momentary Assessment of Relative Fundamental Frequency.

Many common voice disorders are associated with vocal hyperfunction (VH), with subtypes including phonotraumatic VH (leading to organic vocal fold lesions such as nodules and/or polyps) and nonphonotraumatic VH (often diagnosed as primary muscle tension dysphonia). VH has been hypothesized to influence baseline vocal fold tension during phonation, and the relative fundamental frequency (RFF) during onset and offset cycles of phonation has been related to vocal fold tension and has been shown to differentiate typical voices from patients with VH in laboratory settings. In this study, we investigated whether the laboratory sensitivity of RFF to the presence of VH found in the laboratory is preserved in naturalistic, in-field settings and whether ecological momentary assessment of RFF during daily life could be a correlate of self-reported vocal effort.

Patient-Perceived Vocal Effort Immediately Following Voice Tasks in Adductor Laryngeal Dystonia (ADLD).

Purpose: This study examined the relationship between patient-perceived vocal effort (VE) using a 100-mm visual analog scale (VE-VAS) and the OMNI Vocal Effort Scale (OMNI-VES) when measures were obtained after a vocal activity. A second purpose was to evaluate how VE related to other voice assessment measures.

Method: Fifty-three speakers with adductor laryngeal dystonia (ADLD) provided speech recordings.

HepB-CpG vs HepB-Alum Vaccine in People With HIV and Prior Vaccine Nonresponse: The BEe-HIVe Randomized Clinical Trial.

Importance: Nonresponse to hepatitis B vaccine is common among people with HIV, resulting in vulnerability to infection with hepatitis B virus (HBV).

Objective: To compare the seroprotection response achieved with a 2-dose (noninferiority, 10% margin) and a 3-dose hepatitis B vaccine with a cytosine phosphoguanine adjuvant (HepB-CpG vaccine) vs a conventional 3-dose hepatitis B vaccine with an aluminum hydroxide adjuvant (HepB-alum vaccine) in people with HIV and prior nonresponse to HepB-alum vaccine.

Design, Setting, And Participants: This phase 3, open-label, randomized clinical trial included people with HIV receiving antiretroviral therapy (CD4 cell count ≥100 cells/μL and HIV RNA <1000 copies/mL) without past or present serological evidence of having HBV or a response to hepatitis B vaccine.