Incidence Of Co-occurrence Research Articles

CLINICO-BIOCHEMICAL PROFILE OF HYPOTHYROIDISM IN RHEUMATOID ARTHRITIS

Objectives: The incidence of co-occurrence of multiple autoimmune diseases in a single patient is constantly increasing. Conditions with auto immune backgrounds such as rheumatoid arthritis and thyroid dysfunction have an immense relationship. This study was designed to evaluate the association biochemical parameters and disease progression in rheumatoid arthritis cases with hypothyroidism. Methods: A total of 120 adult participants diagnosed with rheumatoid arthritis with suggestive hypothyroidism between 21 and 55 years of age were included in this study. All cases underwent complete laboratory investigations including thyroid profile. Depending on the diagnostic outcome of the thyroid profile, the participants were divided into two groups, that is, group 1 consists of rheumatoid arthritis with hypothyroidism and group 2 consists of rheumatoid arthritis without hypothyroidism. Results: The higher mean values of FT3 and FT4 were observed in RA with hypothyroidism and mean levels of thyroid function test were statistically significant in between the study groups (p < 0.05). The hypertriglyceridemia in 43.3% cases, hypercholesterolemia in 58.3%, hyperuricemia in 26.6%, and diabetes mellitus in 35% cases were commonly observed metabolic complications. Conclusion: The higher levels of metabolic complications, namely, hypercholesterolemia, hyperuricemia, hypertriglyceridemia, and diabetes mellitus were noticed in rheumatoid arthritis with hypothyroidism. Regular screening of patients is recommended to monitor the status of the condition and to maintain a healthy lifestyle.

The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID)

Next Generation Sequencing (NGS) has uncovered hundreds of common and rare genetic variants involved in complex and rare diseases including immune deficiencies in both an autosomal recessive and autosomal dominant pattern. These rare variants however, cannot be classified clinically, and common variants only marginally contribute to disease susceptibility. In this study, we evaluated the multi-gene panel results of Common Variable Immunodeficiency (CVID) patients and argue that rare variants located in different genes play a more prominent role in disease susceptibility and/or etiology. We performed NGS on DNA extracted from the peripheral blood leukocytes from 103 patients using a panel of 19 CVID-related genes: CARD11, CD19, CD81, ICOS, CTLA4, CXCR4, GATA2, CR2, IRF2BP2, MOGS, MS4A1, NFKB1, NFKB2, PLCG2, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1 and TTC37. Detected variants were evaluated and classified based on their impact, pathogenicity classification and population frequency as well as the frequency within our study group. NGS revealed 112 different (a total of 227) variants with under 10% population frequency in 103 patients of which 22(19.6%) were classified as benign, 29(25.9%) were classified as likely benign, 4(3.6%) were classified as likely pathogenic and 2(1.8%) were classified as pathogenic. Moreover, 55(49.1%) of the variants were classified as variants of uncertain significance. We also observed different variant frequencies when compared to population frequency databases. Case–control data is not sufficient to unravel the genetic etiology of immune deficiencies. Thus, it is important to understand the incidence of co-occurrence of two or more rare variants to aid in illuminating their potential roles in the pathogenesis of immune deficiencies.

Distribution of Pest Wireworm (Coleoptera: Elateridae) Species in Alberta, Saskatchewan, and Manitoba (Canada).

We present findings of a general survey of pest wireworms in Alberta, Saskatchewan, and Manitoba conducted from 2004 to 2019; the first such survey of the Canadian Prairie provinces since that published by Glen et al. (1943). Samples were collected from 571 farmland locations where crop damage from wireworms was observed or suspected, and a total of 5,704 specimens (3,548 larvae, 2,156 beetles) were identified. Most specimens (96.9%) were identified as Hypnoidus bicolor (3,278), Selatosomus aeripennis destructor (1,280), Limonius californicus (842), and Aeolus mellillus (125). This suggests that H. bicolor has replaced S. a. destructor as the predominant species and that the relative importance of L. californicus as a pest species has increased since earlier reports. Despite the relatively small number of specimens collected per location (approx. 10), H. bicolor and S. a. destructor, and S. a. destructor and L. californicus were frequently collected at or near the same location (within 1 km). We provide species records and incidence of co-occurrence at different spatial scales, discuss potential reasons for and implications of shifts in species composition, implications of species co-occurrence for managing wireworm pests in crop production, and outline pertinent research needs. A path analysis approach used to correlate incidence of the main species with various soil characteristics indicated that organic matter, cation exchange capacity, and water retention capacity all had a significant species-specific influence on wireworm presence.

Abstract 3621: Characterization of BRAF mutation in Chinese colorectal cancer patients using next generation sequencing

Abstract Objective: BRAF alterations were characterized into three classes according to their dependency with upstream gene alterations in activating the MARK signaling pathway, giving clinical doctors clues of inhibitors selection for therapy. However, the characterization of BRAF mutation in Chinese colorectal cancer patients was unknown. Methods: Colorectum tissue samples were collected from 2155 patients and performed the next generation sequencing (NGS) using a validated commercial panel containing essential genes in RAS-RAF-MARK and PI3K-AKT-mTOR pathways. BRAF mutations were characterized into Class I (kinase-activated, codon 600), II (kinase-activated, non-codon 600) and III (kinase-impaired). Results: There were 9031 pathogenic and likely pathogenic somatic mutations were detected in 2137 out of 2155 samples, among which 149 (7.0%), 1048 (48.6%), 82 (3.8%), 2 (0.1%), 8 (0.4%), 362 (16.8%), 90 (4.2%) were found caring BRAF, KRAS, NRAS, HRAS, EGFR, PIK3CA and PTEN mutations, respectively. A total of 19 unique BRAF mutations were detected. The Class I (BRAFV600E), Class II and Class III accounted for 76.0%, 6.7% and 13.3% of all BRAF mutations. Higher incidence of co-occurrence of Class III mutations and RAS mutations were observed in our study, which might be due to their RAS-dependent way in activating downstream signaling pathway. Class III patients might be more sensitive to EGFR inhibitor and receive more benefits from survival than other classes. Conclusions: In our study, the mutation type, frequency, classification of BRAF mutations and co-occurrence with BRAF and other driver gene mutations were explored in a large cohort of Chinese colorectal cancer patients, which might help to suggest proper therapy methods. Citation Format: Hui Wang, Hao Wu, Yifan Zhou, Bei Zhang, Danpeng Sun, LIihua Jiang, Hui Chen, Yuezong Bai, Zhe Zhang. Characterization of BRAF mutation in Chinese colorectal cancer patients using next generation sequencing [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 3621.

Concomitant renal cell carcinoma and lymphoid malignancies: a case series of five patients and review of the literature

Appearance of non-Hodgkin's lymphomas (NHL) and renal cell carcinoma (RCC) in same person has been reported in the literature. There is a higher-than-expected incidence of co-occurrence of these neoplastic disorders. The cause for this association remains speculative. Two epidemiological studies have shown that the observed-to-expected ratio for occurrence of RCC in NHL patients were 1.86 to 2.67. We herein describe five patients with both RCC and lymphoid malignancies, and reviewed possible explanations for the association. In three of the five patients, RCC was diagnosed during lymphoproliferative disease work-up, and remaining two cases had been diagnosed with chronic lymphocytic leukemia 1 and 5 years prior to RCC. All RCC cases were detected during staging of the primary tumor, usually by CT scan and/or ultrasound. Our data are in correlation with the literature that there is an increased association of RCC and NHL more often among male patients, and that the lymphoproliferative disease often presents with extranodal involvement. The specialists should be alerted for this possibility when evaluating patients at diagnosis or during follow-up.