RESUMO
CASE: We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a "ground-glass" appearance. Genetic testing for the patient was notable for a c.119C>T (p.Ser40Leu) variant in exon 1 of IFITM5 and a c.676C>A (Pro226Thr) variant in exon 5 of CREB3L1. CONCLUSION: This unusual skeletal presentation was in the setting of a rare IFITM5 mutation and represents a unique case of severe OI.
Assuntos
Osteogênese Imperfeita , Humanos , Proteínas de Membrana/genética , Mutação , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genética , FenótipoRESUMO
Anti-low-density lipoprotein receptor-related lipoprotein 2 (LRP2) nephropathy/anti-brush border antibody disease is rare and characterized by tubular basement membrane, Bowman's capsule and glomerular subepithelial immune deposits on kidney biopsy. No reported cases have occurred in patients with lymphoproliferative disorders or monoclonal gammopathies. We present two cases of anti-LRP2 nephropathy that occurred in patients with progressive low-grade B-cell lymphoma and had concurrent kidney infiltration by lymphoma on biopsy. We speculate that underlying immune dysregulation related to lymphoma may contribute to the development of this rare autoimmune kidney disease in some patients.
RESUMO
In the United States, young people (ages 15-24 years) are disproportionately affected by human immunodeficiency virus (HIV) and other sexually transmitted diseases (STDs), due at least in part to inadequate or incorrect HIV/STD-related knowledge, attitudes, beliefs, and behavioral intentions (KABI). Comic book narratives are a proven method of HIV/STD prevention communication to strengthen KABI for HIV/STD prevention. Motion comics, a new type of comic media, are an engaging and low-cost means of narrative storytelling. The objective of this study was to quantitatively evaluate the effectiveness of a pilot six-episode HIV/STD-focused motion comic series to improve HIV/STD-related KABI among young people. We assessed change in HIV/STD knowledge, HIV stigma, condom attitudes, HIV/STD testing attitudes, and behavioral intentions among 138 participants in 15 focus groups immediately before and after viewing the motion comic series. We used paired t-tests and indicators of overall improvement to assess differences between surveys. We found a significant decrease in HIV stigma (p < .001) and increases in both HIV knowledge (p = .002) and behavioral intentions to engage in safe sex (p < .001). In summary, this motion comic intervention improved HIV/STD-related KABI of young adult viewers by reducing HIV stigma and increasing behavioral intentions to engage in safer sex. Our results demonstrate the promise of this novel intervention and support its use to deliver health messages to young people.
Assuntos
Romances Gráficos como Assunto , Infecções por HIV/prevenção & controle , Conhecimentos, Atitudes e Prática em Saúde , Promoção da Saúde/métodos , Adolescente , Feminino , Humanos , Intenção , Masculino , Projetos Piloto , Comportamento de Redução do Risco , Sexo Seguro , Estados Unidos , Adulto JovemRESUMO
Young people (15-24 years) in the United States are disproportionately affected by infection with human immunodeficiency virus (HIV) and sexually transmitted diseases (STD). Shortfalls in HIV/STD-related knowledge, attitudes, beliefs, and behavioral intentions (KABI) likely contribute to this discrepancy. In this report we describe our experience developing a novel means of health communication combining entertainment-education theory and recent technological advances to create a HIV/STD-focused "motion comic." We also report the audience satisfaction and acceptance of the intervention. We used the Health Belief Model (HBM), entertainment-education (EE) principles, and the Sabido Method (SM) and conducted three rounds of focus groups to develop a 38-minute HIV/STD focused motion comic for young people between the ages 15 and 24 years. Participants indicated that motion comics were an acceptable method of delivering HIV/STD prevention messages. They also expressed satisfaction with motion comics plot, story settings, the tone of humor, and drama. Our results suggest that motion comics are a viable new method of delivering health communication messages about HIV/STD and other public health issues, and warrant further development and broader evaluation.