21 research outputs found
Gender and Ocular Manifestations of Connective Tissue Diseases and Systemic Vasculitides
Ocular manifestations are present in many connective tissue diseases which are characterized by an immune system that is directed against self. In this paper, we review the ocular findings in various connective tissue diseases and systemic vasculitides and highlight gender differences in each disease. In rheumatoid arthritis, we find that dry eyes affect women nine times more than men. The other extra-articular manifestations of rheumatoid arthritis affect women three times more commonly than men. Systemic lupus erythematosus can involve all ocular structures and women are nine times more affected than men. Systemic sclerosis is a rare disease but, again, it is more common in women with a female to male ratio of 8â:â1. Polymyositis and dermatomyositis also affect women more commonly than men but no gender differences have been found in the incidence or disease course in the systemic vasculitides associated with antineutrophil cytoplasmic antibody such as granulomatosis with polyangiitis (GPA, formerly known as Wegenerâs granulomatosis). Finally, Behcetâs disease is more common in males, and male gender is a risk factor for Behcetâs disease. There is a slight female preponderance in sarcoidosis with female gender carrying a worse prognosis in the outcome of ocular disease
The structure of the tetrasialoganglioside from human brain
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle- age onset. In nine families, we identified heterozygous C- terminal frameshift mutations in TREX1, which encodes a 3'-5' exonuclease. These truncated proteins retain exonuclease activity but lose normal perinuclear localization. These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias
Reversible Cerebral Vasoconstriction Syndromes Analysis of 139 Cases
Objectives: To compare the clinical, laboratory, and imaging features of patients with reversible cerebral vasoconstriction syndromes evaluated at 2 academic centers, compare subgroups, and investigate treatment effects. Design: Retrospective analysis. Setting: Massachusetts General Hospital (n = 84) or Cleveland Clinic (n = 55). Patients: One hundred thirty-nine patients with reversible cerebral vasoconstriction syndromes. Main Outcome Measures: Clinical, laboratory, and imaging features; treatment; and outcomes. Results: The mean age was 42.5 years, and 81% were women. Onset with thunderclap headache was documented in 85% and 43% developed neurological deficits. Prior migraine was documented in 40%, vasoconstrictive drug exposure in 42%, and recent pregnancy in 9%. Admission computed tomography or magnetic resonance imaging was normal in 55%; however, 81% ultimately developed brain lesions including infarcts (39%), convexity subarachnoid hemorrhage (34%), lobar hemorrhage (20%), and brain edema (38%). Cerebral angiographic abnormalities typically normalized within 2 months. Nearly 90% had good clinical outcome; 9% developed severe deficits; and 2% died. In the combined cohort, calcium channel blocker therapy and symptomatic therapy alone showed no significant effect on outcome; however, glucocorticoid therapy showed a trend for poor outcome (P = .08). Subgroup comparisons based on prior headache status and identified triggers (vasoconstrictive drugs, pregnancy, other) showed no major differences. Conclusion: Patients with reversible cerebral vasoconstriction syndromes have a unique set of clinical imaging features, with no significant differences between subgroups. Prospective studies are warranted to determine the effects of empirical treatment with calcium channel blockers and glucocorticoids.WoSScopu
Outcomes Following Acute Coronary Syndrome in Patients With and Without Rheumatic ImmuneâMediated Inflammatory Diseases
Background Rheumatic immune mediated inflammatory diseases (IMIDs) are associated with high risk of acute coronary syndrome. The longâterm prognosis of acute coronary syndrome in patients with rheumatic IMIDs is not well studied. Methods and Results We identified Medicare beneficiaries admitted with a primary diagnosis of myocardial infarction (MI) from 2014 to 2019. Outcomes of patients with MI and concomitant rheumatic IMIDs including systemic lupus erythematosus, rheumatoid arthritis, systemic sclerosis, dermatomyositis, or psoriasis were compared with propensity matched control patients without rheumatic IMIDs. Oneâtoâthree propensityâscore matching was done for exact age, sex, race, STâsegmentâelevation MI, and nonâSTâsegmentâelevation MI variables and greedy approach on other comorbidities. The study primary outcome was allâcause mortality. The study cohort included 1â654â862 patients with 3.6% prevalence of rheumatic IMIDs, the most common of which was rheumatoid arthritis, followed by systemic lupus erythematosus. Patients with rheumatic IMIDs were younger, more likely to be women, and more likely to present with nonâSTâsegmentâelevation MI. Patients with rheumatic IMIDs were less likely to undergo coronary angiography, percutaneous coronary intervention or coronary artery bypass grafting. After propensityâscore matching, at median follow up of 24 months (interquartile range 9â45), the risk of mortality (adjusted hazard ratio [HR], 1.15 [95% CI, 1.14â1.17]), heart failure (HR, 1.12 [95% CI 1.09â1.14]), recurrent MI (HR, 1.08 [95% CI 1.06â1.11]), and coronary reintervention (HR, 1.06 [95% CI, 1.01â1.13]) (P<0.05 for all) was higher in patients with versus without rheumatic IMIDs. Conclusions Patients with MI and rheumatic IMIDs have higher risk of mortality, heart failure, recurrent MI, and need for coronary reintervention during followâup compared with patients without rheumatic IMIDs
Supplementary Appendix e-2: Mass spectrometry counts for all proteins across all samples
Data file contains summary of mass spectrometry results by patient, aggregated by protein (UniProt ID and Gene name given), with number of unique peptides, peptide count, percent coverage, best discovery score, and best expectation value. For patient ID key, see main manuscript Table 1. (PACNS = ID 1-8, RCVS = ID 9-12, NIC = ID 13-23