Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature.

Case report: Novel phenotype in central 22q11.2 deletion syndrome.

Deletions within 22q11.2 are one of the most common microdeletions studied. We report a case of central 22q11.

A case series of a mother and two daughters with a gene deletion demonstrating variable expressivity and incomplete penetrance.

This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.

Pediatric Myelodysplastic Syndrome With Germline RRAS Mutation: Expanding the Phenotype of RASopathies.

The RAS/mitogen-activated protein kinase pathway plays a significant role in cell cycle regulation. Germline mutation of this pathway leads to overlapping genetic disorders, RASopathies, and is also an important component of tumorigenesis. Here we describe a rare case of myelodysplastic syndrome with monosomy 7 in a pediatric patient with a germline RRAS mutation.

The teaching effectiveness of standardized patients.

Teaching nursing students therapeutic communication skills begins in the classroom and extends to the clinical environment. The usual method of instruction consists of random patient encounters observed by faculty and measures of competence that rely on paper-and-pencil tests. Using standardized patients (SPs) offers an alternative approach to the traditional method of teaching.

Measuring the effectiveness of faculty mentoring relationships.

"Mentor" is a term widely used in academic medicine but for which there is no consensus on an operational definition. Further, criteria are rarely reported for evaluating the effectiveness of mentoring. This article presents the work of an Ad Hoc Faculty Mentoring Committee whose tasks were to define "mentorship," specify concrete characteristics and responsibilities of mentors that are measurable, and develop new tools to evaluate the effectiveness of the mentoring relationship.

Enhancing self-care in community dwelling older adults.

This article describes the development of an enrichment program to promote social support, coping with aging, and enhancing self-care in a sample of African American older adults living independently in low-income public housing. To address the needs of the increasing population of older adults in the United States, health initiatives that foster independence, wellness, and self-care are essential.