A modified version of the Revised Memory and Behavior Problems Checklist (RMBPC; L. Teri et al., 1992) was administered across 6 different sites to 1,229 family caregivers of community-dwelling adults with dementia. The total sample was divided randomly into 2 subsamples. Principal components analyses on occurrence responses and reaction ratings from the first subsample resulted in a 3-factor solution that closely resembled the originally proposed dimensions (memory-related problems, disruptive behaviors, and depression). Confirmatory factor analyses on data from the second subsample indicated adequate fit for the 3-factor model. Correlations with other caregiver and care-recipient measures supported the convergent and discriminant validity of the RMBPC measures. In addition, female caregivers and White caregivers reported more problems, on average, than male caregivers and African American caregivers, respectively. NIH Public Access NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptIt has been estimated that 80% of individuals with Alzheimer's disease or a similar dementia are cared for at home by family members (Haley & Bailey, 1999). Although dementia is, by definition, characterized by a decline in cognitive functions, other behavioral complications such as emotional disturbances and disruptive behaviors are also common. Standardized instruments that assess the occurrence and severity of cognitive, emotional, and behavioral problems exhibited by persons with dementia are helpful not only for assessing behavior disturbance in Alzheimer's disease but also for identifying the specific challenges that confront family caregivers.The Revised Memory and Behavior Problems Checklist (RMBPC; Teri et al., 1992) is one such instrument that provides assessments of the frequency of problems and the impact that these problems have on the caregiver. Exploratory factor analyses of the RMBPC and similar measures of memory and behavior problems have indicated that multiple dimensions underlie these measures (Dura, Bornstein, & Kiecolt-Glaser, 1990;Fuh, Liu, Wang, Wang, & Liu, 1999;McCarty et al., 2000;Teri et al., 1992). In general, memory-related problems have been found to cluster on distinct factors that are largely independent from emotional difficulties and other behavior problems. However, significant inconsistencies across previous studies are evident, both in terms of item content and resulting factor structures. Factor structures with as few as three (Fuh et al., 1999;Teri et al., 1992) and as many as eight (Dura et al., 1990) different factors have been reported.In constructing the RMBPC, Teri and colleagues (1992) expanded from a list of items previously used by Zarit and Zarit (1983) and assembled a set of 64 items. These items were then administered to 169 caregivers of patients diagnosed with dementia and 32 caregivers of geriatric patients without a diagnosis of dementia. For each item, caregivers rated the frequency of the problem on a 0 (never) to 4 (daily or more often) scale,...

Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.

Purpose To investigate the utility of whole-exome sequencing (WES) to define a molecular diagnosis in patients clinically diagnosed with congenital anomalies of kidney and urinary tract (CAKUT). Methods WES was performed in 62 families with CAKUT. WES data were analyzed for Single Nucleotide Variants (SNVs) in 35 known CAKUT genes, putatively deleterious sequence changes in new candidate genes, and potentially disease-associated copy-number variants (CNVs). Results In approximately 5% of families, pathogenic SNVs were identified in PAX2, HNF1B, and EYA1. Observed phenotypes in these families expand the current understanding about the role of these genes in CAKUT. Four pathogenic CNVs were also identified using two CNV detection tools. In addition, we found one deleterious de novo SNV in FOXP1 among the 62 families with CAKUT. Database of clinical BMGL laboratory was queried and seven additional unrelated individuals with novel de novo SNVs in FOXP1 were identified. Six of these 8 individuals with FOXP1 SNVs, have syndromic urinary tract defects, implicating this gene in urinary tract development. Conclusion We conclude that WES can be used to identify the molecular etiology (SNVs, CNVs) in a subset of individuals with CAKUT. WES can also help identify novel CAKUT genes.