Ocular syphilis resurgence in an urban underserved community in the United States

AIM: To evaluate the clinical characteristics, demographics, and visual outcomes of patients with ocular syphilis at an urban hospital to increase awareness and assist in earlier diagnosis and treatment of the resurgent disease. METHODS: A retrospective chart review was performed on patients with ICD-9 and ICD-10 diagnosis codes correlating with syphilis or syphilis-related ocular diseases between 2010 and 2019. Variables evaluated included age, gender, race, vision, ocular findings, human immunodeficiency virus (HIV) status and men who have sex with men status, recreational drug and alcohol use. RESULTS: Ocular syphilis was diagnosed in 40 patients (53 eyes) of a total of 229 patients who tested positive for syphilis via serum and/or cerebrospinal fluid treponemal testing from 2010-2019. Among patients with ocular syphilis, most patients were males, aged 45 or above and Black, and had no diagnosed HIV infection. Approximately 50% patients had 20/40 vision or better. Nearly 50% had non-granulomatous anterior uveitis as their initial presentation, and 49% of patients had involvement of the posterior segment. Neovascular glaucoma (5.7%), papillitis (7.5%), vasculitis (5.7%), and retinal detachment (5.7%) were rarer presentations of the disease and were associated with a poorer visual prognosis. CONCLUSION: Given the increased prevalence and protean manifestations of syphilis, early diagnosis and treatment are paramount. More studies on ocular syphilis are warranted to understand this resurging disease

Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa.

The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Determining the pathogenicity of novel variants is important for enrollment of patients into gene therapy trials. Sequencing and analysis of RPGR variants in ORF15 is challenging, as it is highly repetitive and rich in purines. Overlapping reading frames and polymorphic insertions / deletions add further complexity to the detection of mutations. Identifying systemic manifestations in affected males and carrier phenotype in related females expedites confirmation of pathogenic variants. The authors present a 16-year-old boy with a history of primary ciliary dyskinesia presenting with complaints of nyctalopia and visual field constriction. Multimodal imaging found peripheral thinning of the retina and a characteristic foveal hyperautofluorescent ring in the proband, and a carrier phenotype in the asymptomatic mother. A novel c.1059_1059+2delGGT, p.(?) variant in RPGR was identified as hemizygous in the affected boy and heterozygous in his mother. This case study expands the genotypic spectrum of RPGR variants associated with systemic manifestations. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:548-552.]

Model systems for the study of steroid-induced IOP elevation

Steroid-induced IOP elevation affects a significant number of patients. It results from a decrease in outflow facility of the aqueous humor. To understand the pathophysiology of this condition a number of model systems have been created. These include ex-vivo cell and organ cultures as well as in-vivo animal models in organisms ranging from rodents to primates. These model systems can be used to investigate specific aspects of steroid-induced IOP elevation. This brief review summarizes the strengths and limitations of the various model systems and provides examples of where these systems have been successfully used to advance our understanding of steroid-induced IOP elevation.Fil: Rybkin, IIya. SUNY Downstate; Estados UnidosFil: Gerometta, Rosana María del Rosario. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional del Comahue. Facultad de Medicina; Argentina. Icahn School of Medicine at Mount Sinai; Estados UnidosFil: Fridman, Gabrielle. SUNY Downstate; Estados UnidosFil: Candia, Oscar. Icahn School of Medicine at Mount Sinai; Estados UnidosFil: Danias, John. SUNY Downstate; Estados Unido

Clear-cell Renal Cell Carcinoma: Molecular Characterization of IMDC Risk Groups and Sarcomatoid Tumors

INTRODUCTION: Recent trials have suggested predictive biomarkers in advanced clear-cell renal cell carcinoma (accRCC): International Metastatic RCC Database Consortium (IMDC) good risk or angiogenic gene signature for sunitinib and IMDC intermediate/poor risk for ipilimumab-nivolumab and T-effector cell signature or sarcomatoid dedifferentiation for atezolizumab-bevacizumab. We hypothesized that earlier described molecular subtypes, ccrcc1 to ccrcc4, could provide similar information as a single generic biomarker and molecularly characterize the heterogeneous intermediate-risk group. PATIENTS AND METHODS: Patients with accRCC treated with systemic therapies were included. We assessed associations between the 5 biomarkers and their impact on progression-free survival (PFS) and response rate (RR) on first-line sunitinib or pazopanib. The cutoff percentage of sarcomatoid dedifferentiation with optimal discriminative value was determined. RESULTS: In total, 430 patients were included (163 with molecular data). The molecular ccrcc2 subtype identified tumors with higher angiogenic gene expression across IMDC risk groups: prevalence was high in IMDC good risk and low in IMDC poor risk (P < .001). Molecular subtype, IMDC, and angiogenic gene expression had comparable C-indices to predict PFS and RR (range, 60%-66%). The ccrcc2 subtype and angiogenic gene expression were positive predictors of PFS in IMDC intermediate-risk patients (P = .006; P = .04). Immune signature did not differ between IMDC groups, but was strongly correlated with molecular subtype (P = .8 and P = .0007). A cutoff value of 25% sarcomatoid differentiation discriminated tumors with distinct molecular characteristics and therapeutic sensitivity. CONCLUSION: In accRCC, molecular subtypes can explain differences in IMDC risk group, expression of angiogenesis and immune response genes, and sarcomatoid dedifferentiation. They can identify molecularly different patient populations within the heterogeneous IMDC intermediate group and select patients for systemic therapies.status: publishe

Molecular subtypes of clear cell renal cell carcinoma are associated with sunitinib response in the metastatic setting

Selecting patients with metastatic clear-cell renal cell carcinoma (m-ccRCC) who might benefit from treatment with targeted tyrosine kinase inhibitors (TKI) is a challenge. Our aim was to identify molecular markers associated with outcome in patients with m-ccRCC treated with sunitinib.status: publishe

Molecular subtypes of clear cell renal cell carcinoma are associated to sunitinib response in the metastatic setting

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