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. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.

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. RRAS mutations have been implicated in the development of juvenile myelomonocytic leukemia, but our case suggests RRAS mutations display a broader malignant potential. Our case supports the recommendation that genetic testing should include RRAS in suspected RASopathy patients and if identified, these patients undergo surveillance for hematologic malignancy.

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 22q11.2 deletion with abnormal dentition, a feature not previously described in this condition. Although the diagnosis of central 22q11.2 deletion syndrome requires genetic testing, we aim to facilitate clinical recognition, expediting diagnosis.

A case series of a mother and two daughters with a GLI2 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.

Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation.

Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an acute gastroenteritis and multiple fluid boluses leading to intractable emesis. Gene testing reveals our patient is compound heterozygous for novel AQP2 gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659. Therefore, we report a novel AQP2 gene mutation in an adolescent patient which is outside the common age for diagnosis.

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. Standardized patients are individuals who have been carefully trained to present an illness or scenario in a standardized, unvarying manner. This pilot study compared use of SPs with the usual method of instruction in a class of undergraduate nursing students. Results indicated that students who participated in the SP method overwhelmingly described the experience as positive, creative, and meaningful. No significant differences were found between the two groups on measures of interpersonal skills, therapeutic communication skills, and knowledge of depression

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. The committee developed two tools: the Mentorship Profile Questionnaire, which describes the characteristics and outcome measures of the mentoring relationship from the perspective of the mentee, and the Mentorship Effectiveness Scale, a 12-item six-point agree-disagree-format Likert-type rating scale, which evaluates 12 behavioral characteristics of the mentor. These instruments are explained and copies are provided. Psychometric issues, including the importance of content-related validity evidence, response bias due to acquiescence and halo effects, and limitations on collecting reliability evidence, are examined in the context of the mentor-mentee relationship. Directions for future research are suggested.

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.