Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Purpose: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty, some VUS have more evidence in support of pathogenicity while others have more evidence of a benign role. Sharing these nuances can help guide the investment in follow-up clinical and research investigations and may, at times, influence medical decision-making despite appreciated uncertainty.

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Purpose: Genetic testing commonly yields a plethora of variants of uncertain significance (VUS) that can lead to ongoing uncertainty for patients and their caregivers. While all VUS hold uncertainty, some VUS have more evidence in support of pathogenicity while others have more evidence of a benign role. Sharing these nuances can help guide the investment in follow-up clinical and research investigations and may, at times, influence medical decision-making despite appreciated uncertainty.

SWI/SNF recruitment to a DNA double-strand break by the NuA4 and Gcn5 histone acetyltransferases.

The DNA damage response to double-strand breaks (DSBs) is critical for cellular viability. Recent work has shown that a host of chromatin regulators are recruited to a DSB, and that they are important for the DNA damage response. However, the functional relationships between different chromatin regulators at DSBs remain unclear.

DNA repair choice defines a common pathway for recruitment of chromatin regulators.

DNA double-strand break repair is essential for maintenance of genome stability. Recent work has implicated a host of chromatin regulators in the DNA-damage response, and although several functional roles have been defined, the mechanisms that control their recruitment to DNA lesions remain unclear. Here we find that efficient double-strand break recruitment of the INO80, SWR-C, NuA4, SWI/SNF and RSC enzymes is inhibited by the non-homologous end-joining machinery, and that their recruitment is controlled by early steps of homologous recombination.

General and specific abilities to recognise negative emotions, especially disgust, as portrayed in the face and the body.

We examined the ability of 150-166 undergraduate students to assign four negative emotions (sadness, fear, disgust, and anger) to five sets of emotion expression stimuli: a standard of face photographs expressing basic emotions, faces that were morphs of standards for these emotions, a special set of faces that was designed to detect different components of disgust expressions, and two sets of dynamic, video clips displays of emotions as described in traditional Hindu scriptures and used in classical Hindu dance. One of these sets presented the full body traditional displays (including hands and face), while in the second set, the same clips were used but the facial expressions were blocked out. Participants also completed an obsessive compulsive inventory and the disgust scale.

Cultural issues in the treatment of young African American children diagnosed with disruptive behavior disorders.

Objective: To discuss issues relevant to treating young African American children with disruptive behavior disorders.

Method: We treat behavior disorders, correlates of behavior disorders, and special differences between African American and Caucasian children that could lead to or explain behavior problems.

Discussion: The majority of the information on young children diagnosed with disruptive behavior disorders has been obtained primarily from Caucasian children and families.