A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function

Rosai-Dorfman Disease of the Breast

Rosai-Dorfman disease (also known as sinus histiocytosis with massive lymphadenopathy) is a rare benign proliferative disorder of histiocytes that typically involves the lymph nodes and can also involve extranodal sites. Rosai-Dorfman disease confined to the breast is extremely rare, but important to recognize as it can mimic malignancy. We present the case of a 63-year-old woman who presented with a palpable breast lump that was highly suspicious for malignancy based on mammogram and ultrasound appearance. Biopsy revealed inflammatory tissue with lymphoplasmacytic and histiocytic predominance. The diagnosis of Rosai-Dorfman was made based on characteristic staining of histiocytes with S-100 and the presence of emperipolesis. Early recognition of this benign disease entity spared the patient further investigation and surgical intervention

Breast: Sezary Syndrome: A Unique Presentation

Sezary syndrome is a subtype of cutaneous T cell lymphoma which usually presents as generalized skin disease with erytheroderma. Distal organ involvement is rare and is usually a late finding in the course of the disease. Breast involvement is extremely rare. Herein, we present a case report of a patient whose initial presentation involved an intramammary lymph node prior to the onset of more characteristic skin disease. Sezary syndrome was confirmed by cythopathologic findings

Differences in service utilization and barriers among Blacks, Hispanics, and Whites with drug use disorders.

BACKGROUND: Treatment for drug use disorders (DUD) can be effective, but only a small proportion of people with DUD seek or receive treatment. Research on racial and ethnic treatment differences and disparities remains unclear. Understanding racial and ethnic differences and disparities in drug treatment is necessary in order to develop a more effective referral system and to improve the accessibility of treatment. The purpose of the current study was to explore the role of race and ethnicity in service utilization. METHODS: Using data from the National Epidemiologic Survey on Alcohol and Related Conditions (NESARC), this study examined racial and ethnic differences in use of 14 types of treatment services for DUD and 27 different treatment barriers among persons who met lifetime criteria for a DUD. Multivariate logistic regression analyses were used to examine service utilization and barriers among the racial and ethnic groups, while adjusting for other sociodemographic and clinical variables. RESULTS AND DISCUSSION: Among Blacks, Hispanics and Whites in the overall NESARC sample, approximately 10.5% met criteria for at least one lifetime drug use disorder. Approximately 16.2% of persons with a lifetime DUD received at least one type of service. Overall, this study indicated that Whites were less likely to report receiving help for drug-related problems than Blacks, Blacks used a greater number of different types of services, and no racial and ethnic differences were observed with respect to perceived barriers to drug treatment. However, by examining types of services separately, a complex picture of racial and ethnic differences emerges. Most notably, Whites were most likely to use professional services, whereas Blacks were most likely to use 12-step and clergy. The service use pattern of Hispanics most resembled that of Whites. CONCLUSION: While structural barriers to accessing treatment were observed, broad-based educational programs and interventions that are appropriately targeted to racial and ethnic groups remains an important area for prevention and treatment.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/62078/1/Differences.pd