Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency.

Autoinflammatory diseases (AID) are a heterogeneous group of inherited conditions caused by abnormal activation of systems mediating innate immunity. Recent literature focuses on A20 Haploinsufficiency, an autoinflammatory disease with a phenotype resembling Behçet disease (BD). It is caused by loss-of-function mutations in TNFAIP3 gene that result in the activation of a pro-inflammatory pathway. In this case report we describe a one-year-old baby who came to our attention for hematochezia appeared at three months of age which was considered an expression of early-onset colitis. The following appearance of cutaneous inflammation Behçet-like and the positive family history concurred with the diagnosis of an autoinflammatory disease. Extended genetic tests in the patient allowed to identify a heterozygous variant in TNFAIP3 [NM_006290.4:c.460G > T, p.(Glu154Ter)], not previously described and not present in the GnomAD database. As a consequence the diagnosis A20 Haploinsufficiency was established and the appropriate management was started. The same TNFAIP3 variant was also found in her father who had suffered from recurrent oral aphthosis, vitiligo and thyroiditis since childhood. In conclusion, we described a young patient with a novel heterozygous mutation in TNFAIP3 who developed BD-like symptoms. We proposed that loss-of-function variants in TNFAIP3 may be associated with a very early-onset intestinal BD phenotype.

The Impact of Telemedicine on Rheumatology Care.

Background: The pandemic disrupted the care of patients with rheumatic diseases; difficulties in access to care and its psychological impact affected quality of life. Telemedicine as an alternative to traditional face-to-face office visits has the potential to mitigate this impact. Objective: To evaluate patient and provider experience with telemedicine and its effect on care. Methods: We surveyed patients with rheumatic diseases and their rheumatology providers. The surveys were conducted in 2020 and repeated in 2021. We assessed data on quality of care and health-related quality of life. Results: Hundred patients and 17 providers responded to the survey. Patients reported higher satisfaction with telemedicine in 2021 compared to 2020 (94 vs. 84%), felt more comfortable with (96 vs. 86%), expressed a stronger preference for (22 vs. 16%), and higher intention to use telemedicine in the future (83 vs. 77%); patients thought physicians were able to address their concerns. While providers' satisfaction with telemedicine increased (18-76%), 14/17 providers believed that telemedicine visits were worse than in-person visits. There were no differences in annualized office visits and admissions. Mean EQ-5D score was 0.74, lower than general population (0.87) but equivalent to a subset of patients with SLE (0.74). Conclusion: Our data showed a high level of satisfaction with telemedicine. The lower rheumatology provider satisfaction raises concern if telemedicine constitutes an acceptable alternative to in-person care. The stable number of office visits, admissions, and the similar quality of life to pre-pandemic level suggest effective management of rheumatic diseases using telemedicine/in-person hybrid care.

Trabecular Bone Score and Bone Quality in Systemic Lupus Erythematosus Patients.

Background: Systemic lupus erythematosus (SLE) patients run a higher risk of having low bone mass due to multifactorial events that include physical inactivity, persistent inflammation, low vitamin D levels, and glucocorticoid treatment. This study aimed at obtaining a comparison between bone involvement in SLE patients and healthy matched subjects (HS). Methods: A total of 40 SLE females (average age 54.1 ± 16.3 years) and 40 age-gender matched HS (average age 54.2 ± 15.9 years) were enrolled after having obtained informed written consent. Bone mineral density (BMD, g/cm2) of the lumbar spine (L1-L4) was analyzed by a dual-energy X-ray absorptiometry (DXA) scan (GE, Lunar Prodigy). The lumbar spine trabecular bone score (TBS) was derived for each spine DXA examination by the TBS index (TBS iNsight Medimaps). Results: The lumbar spine TBS score was statistically significantly lower in SLE patients than in HS (0.797 ± 0.825 vs. 1.398 ± 0.207, p < 0.001, as was BMD (p < 0.001) in all areas examined. Conclusions: SLE is associated with significant low bone mass as evidenced by DXA and TBS. This study emphasizes the importance of using DXA and TBS in the evaluation of the different aspects of bone architecture.

How and Why Men and Women Differ in Their Microbiomes: Medical Ecology and Network Analyses of the Microgenderome.

Microgenderome or sexual dimorphism in microbiome refers to the bidirectional interactions between microbiotas, sex hormones, and immune systems, and it is highly relevant to disease susceptibility. A critical step in exploring microgenderome is to dissect the sex differences in key community ecology properties, which has not been systematically analyzed. This study aims at filling the gap by reanalyzing the Human Microbiome Project datasets with two objectives: (i) dissecting the sex differences in community diversity and their intersubject scaling, species composition, core/periphery species, and high-salience skeletons (species interactions); (ii) offering mechanistic interpretations for (i). Conceptually, the Vellend-Hanson synthesis of community ecology that stipulates selection, drift, speciation, and dispersal as the four processes driving community dynamics is followed. Methodologically, seven approaches reflecting the state-of-the-art research in medical ecology of human microbiomes are harnessed to achieve the objectives. It is postulated that the revealed microgenderome characteristics (categorized as seven aspects of differences/similarities) exert far reaching influences on disease susceptibility, and are primarily due to the sex difference in selection effects (deterministic fitness differences in microbial species and/or species interactions with each other or with their hosts), which are, in turn, shaped/modulated by host physiology (immunity, hormones, gut-brain communications, etc.).

The MicroRNA-326: Autoimmune diseases, diagnostic biomarker, and therapeutic target.

MicroRNAs (miRNAs) are uniquely regulated in healthy, inflamed, activated, cancerous, or other cells and tissues of a pathological state. Many studies confirm that immune dysregulation and autoimmune diseases with inflammation are correlated with various miRNA expression changes in targeted tissues and cells in innate or adaptive immunity. In this review, we will explain the history and classification of epigenetic changes. Next, we will describe the role of miRNAs changes, especially mir-326 in autoimmunity, autoinflammatory, and other pathological conditions. A systematic search of MEDLINE, Embase, and Cochrane Library was presented for all related studies from 1899 to 2017 with restrictions in the English language. In recent years, researchers have concentrated on mostly those roles of miRNA that are correlated with the inflammatory and anti-inflammatory process. Latest studies have proposed a fundamental pathogenic role in cancers and autoinflammatory diseases. Studies have described the role of microRNAs in autoimmunity and autoinflammatory diseases, cancers, and so on. The miRNA-326 expression plays a significant role in autoimmune and other types of diseases.