Tubulointerstitial nephritis and uveitis syndrome: a case with an autoimmune reactivity against retinal and renal antigens.

Tubulointerstitial nephritis and uveitis (TINU) generally occurs at young age and has a female preponderance. Renal biopsy reveals interstitial infiltration of inflammatory cells and edema, and the associated intraocular inflammation typically consists of an anterior, bilateral uveitis. The pathogenesis of TINU likely involves both humoral and cellular immunity and is mediated by medications, infectious agents, or other unknown causes. A previous report detected a renal antigen recognized by the serum of a TINU patient. In this report the authors extend these observations to document seroreactivity against a retinal antigen of similar size.

New mutation, P575L, in the GUCY2D gene in a family with autosomal dominant progressive cone degeneration.

OBJECTIVES: To clinically characterize the retinal abnormalities and identify the mutation causing an autosomal dominant cone degeneration in an African American family. METHODS: Clinical characterization of family members using fundus photography, fluorescein angiography, and electrophysiological testing. Standard molecular genetic methods were used, including segregation analysis and DNA sequencing of candidate genes. Genetic mutation screening was performed in 20 individuals: 10 clinically unaffected and 10 affected. RESULTS: The affected family members had findings consistent with a primary cone degeneration. A novel mutation, P575L, was found in exon 8 of the GUCY2D gene in 12 members of this family. CONCLUSIONS: In addition to finding a previously undescribed mutation in GUCY2D, 2 of the family members who were thought to be unaffected through routine clinical examinations also had this mutation. These findings suggest that autosomal dominant cone degeneration in this family demonstrated age-dependent penetrance, which appears incomplete. This is the first African American family reported with a mutation in GUCY2D. Because the disease in this family and the one we previously described is primarily a cone degeneration, this disease should be more properly classified as cone degeneration and be called cone degeneration 2. CLINICAL RELEVANCE: This study helps to expand the phenotype of the disease and help clinicians identify patients with cone degenerations.

Risk factors for antibiotic-resistant conjunctival bacterial flora in patients undergoing intraocular surgery.

BACKGROUND: The purpose of this study was to determine if patients with certain risk factors are more likely to harbor conjunctival bacterial flora resistant to multiple antibiotics. METHODS: In this prospective study, detailed medical history and slit-lamp examination were performed on all patients prior to intraocular surgery. Patients with local risk factors were defined as those with chronic blepharitis, conjunctivitis or discharge. Those with systemic risk factors were patients with diabetes, autoimmune, immunodeficient or skin disorders, asthma and those taking immunosuppressant medications. Conjunctival cultures were obtained prior to preoperative antibiotics and povidone-iodine. Bacteria isolated were identified and antibiotic susceptibility was determined. Bacteria resistant to five or more antibiotics were defined as multi-resistant (MR). RESULTS: Among the 207 patients enrolled in the study, 73 patients had local risk factors. Of these patients, 32 patients (44%) carried MR organisms, compared to 32 of the 134 patients (24%) without local risk factors (P=0.0049). Thirty-two of 71 patients (45%) with systemic risk factors harbored MR organisms, compared to 32 of 136 patients (24%) without systemic risk factors (P=0.0025). Seventeen of 93 patients (18%) who had neither local nor systemic risk factors had MR organisms on their conjunctiva. In contrast, 17 of the 30 patients (57%) with both local and systemic risk factors (57%) carried MR bacteria (P=0.0001). CONCLUSION: Patients with local and/or systemic risk factors are more likely to harbor MR organisms. This may be one mechanism for the reported increased risk of postoperative endophthalmitis in this group of patients.

Cancer in Asian American males: epidemiology, causes, prevention, and early detection.

OBJECTIVES: The objective of this paper is to discuss the epidemiology, etiology, and cultural phenomena that characterize cancers specific to Asian American males. METHODS: The author reviewed various published literature concerning the health of Asian American males. RESULTS: Data show an epidemiological dichotomy in cancer incidences between Asian American males and the general U.S. male population. First, lung and colorectal cancers are among the top three cancers for most Asian groups, similar to the situation in the White population. Second, prostate cancer is the leading, or second leading, cause of cancer for Chinese, Japanese, and Filipino males -- all groups considered, in U.S. terms, to be more established in their migration patterns. Third, liver and stomach cancer are in the top five cancers for most Asian groups, an incidence not shared by the White population. CONCLUSIONS: The most common cancers in Asian American males involve the interplay of host genetic and environmental factors, and both primary and secondary prevention strategies are necessary to decrease the morbidity and mortality rates of this uniquely diverse population.