The magnitude of nocturnal sleep disturbance and daytime sleepiness identified in this study reinforces the importance of ongoing screening and effective intervention for sleep-wake disturbances in patients with lung cancer.
Participants experienced severe difficulty with "state maintenance", or the ability to maintain both the sleep and waking states. Research designed to identify the etiology of these problems is needed to develop effective interventions.
Objective
Deficiency of adenosine deaminase 2 (DADA2) is a potentially fatal monogenic syndrome characterized by variable manifestations of systemic vasculitis, bone marrow failure, and immunodeficiency. Most cases are diagnosed by pediatric care providers, given the typical early age of disease onset. This study was undertaken to describe the clinical phenotypes and treatment response both in adults and in children with DADA2 in India.
Methods
A retrospective analysis of pediatric and adult patients with DADA2 diagnosed at various rheumatology centers across India was conducted. Clinical characteristics, diagnostic findings, and treatment responses were analyzed in all subjects.
Results
In total, 33 cases of DADA2 were confirmed in this cohort between April 2017 and March 2020. Unlike previous studies, nearly one‐half of the confirmed cases presented during adulthood. All symptomatic patients exhibited features of vasculitis, whereas constitutional symptoms and anemia were more common in pediatric patients. Cutaneous and neurologic involvement were common, and 18 subjects had experienced at least one stroke. In addition, the clinical spectrum of DADA2 was expanded by recognition of novel features in these patients, including pancreatic infarction, focal myocarditis, and diffuse alveolar hemorrhage. Treatment with tumor necrosis factor inhibitors (TNFi) was initiated in 25 patients. All of the identified disease manifestations showed marked improvement after initiation of TNFi, and disease remission was achieved in 19 patients. Two cases were complicated by tuberculosis infection, and 2 deaths were reported.
Conclusion
This report presents the first case series of patients with DADA2 from India, diagnosed by adult and pediatric care providers. The findings raise awareness of this syndrome, particularly with regard to its presentation in adults.
Aim
This systematic review aimed to ascertain the diagnostic accuracy (sensitivity and specificity) of screening tests for early detection of type 2 diabetes and prediabetes in previously undiagnosed adults.
Methods
This systematic review included published studies that included one or more index tests (random and fasting tests, HbA1c) for glucose detection, with 75-gram Oral Glucose Tolerance Test (or 2-hour post load glucose) as a reference standard (PROSPERO ID CRD42018102477). Seven databases were searched electronically (from their inception up to March 9, 2020) accompanied with bibliographic and website searches. Records were manually screened and full text were selected based on inclusion and exclusion criteria. Subsequently, data extraction was done using standardized form and quality assessment of studies using QUADAS-2 tool. Meta-analysis was done using bivariate model using Stata 14.0. Optimal cut offs in terms of sensitivity and specificity for the tests were analysed using R software.
Results
Of 7,151 records assessed by title and abstract, a total of 37 peer reviewed articles were included in this systematic review. The pooled sensitivity, specificity, positive (LR+) and negative likelihood ratio (LR-) for diagnosing diabetes with HbA1c (6.5%; venous sample; n = 17 studies) were 50% (95% CI: 42–59%), 97.3% (95% CI: 95.3–98.4), 18.32 (95% CI: 11.06–30.53) and 0.51 (95% CI: 0.43–0.60), respectively. However, the optimal cut-off for diagnosing diabetes in previously undiagnosed adults with HbA1c was estimated as 6.03% with pooled sensitivity of 73.9% (95% CI: 68–79.1%) and specificity of 87.2% (95% CI: 82–91%). The optimal cut-off for Fasting Plasma Glucose (FPG) was estimated as 104 milligram/dL (mg/dL) with a sensitivity of 82.3% (95% CI: 74.6–88.1%) and specificity of 89.4% (95% CI: 85.2–92.5%).
Conclusion
Our findings suggest that at present recommended threshold of 6.5%, HbA1c is more specific and less sensitive in diagnosing the newly detected diabetes in undiagnosed population from community settings. Lowering of thresholds for HbA1c and FPG to 6.03% and 104 mg/dL for early detection in previously undiagnosed persons for screening purposes may be considered.
Background: Antisynthetase syndrome is characterized by a triad of myositis, arthritis, and interstitial lung disease. Anti-Jo-1 is the most common associated autoantibody. This study planned to look at the presentation of anti-Jo-1 antisynthetase syndrome in a single Indian center.
Methods and Materials:This was a medical records review singlecenter study that included patients with anti-Jo-1 antisynthetase syndrome over 10 years.Results: This study included 27 patients with anti-Jo-1 antisynthetase syndrome, with mean age of 40 ± 9.2 years and female preponderance (female-to-male ratio, 4:1). At presentation, the characteristic triad was present in only 4 patients. A majority presented with the incomplete form, with 2 clinical features (of triad) in 11 and single feature (of triad) being present in 12 patients at initial presentation. Seven presented only with polyarthritis, out of which 6 had been earlier diagnosed as rheumatoid arthritis. Time gap from diagnosis of "rheumatoid arthritis" to antisynthetase syndrome ranged from 3 to 20 years. In patients who had only arthritis in the beginning, there was a significantly longer delay to diagnosis of antisynthetase syndrome, higher frequency of rheumatoid factor, and lower frequency of anti-Ro-52. Overall, outcome was good, with Eastern Cooperative Oncology Group class 1 or 2 in most except 2 patients.Conclusions: Anti-Jo-1 antisynthetase syndrome commonly presented as incomplete (not a triad) and often only with arthritis. These patients are diagnosed and treated as rheumatoid arthritis for many years, before a diagnosis of antisynthetase syndrome is made. Being aware of this presentation may help in earlier diagnosis by actively searching for subtle clues.
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