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Clinical and Experimental Rheumatology 2021
Topics: Humans; Pulmonary Alveolar Proteinosis; Sjogren's Syndrome
PubMed: 34919046
DOI: 10.55563/clinexprheumatol/857d4n -
Annals of the New York Academy of... Dec 2020This work summarizes new and emerging metrics and tools in esophageal function testing and their potential clinical impact. Because the diagnostic sensitivity and... (Review)
Review
This work summarizes new and emerging metrics and tools in esophageal function testing and their potential clinical impact. Because the diagnostic sensitivity and reliability of conventional impedance-pH variables are suboptimal, several novel impedance parameters, such as the postreflux swallow-induced peristaltic wave index and the mean nocturnal baseline impedance, as well as mucosal impedance, are entering a validation stage prior to general clinical use. The accurate diagnosis of behavioral disorders in patients with rumination syndrome and supragastric belching using ambulatory multiple intraluminal impedance-pH can lead directly to behavioral interventions in patients with refractory gastroesophageal reflux disease (GERD). New provocative measures, such as multiple rapid swallows and the rapid drink challenge, have been developed to overcome the limitations of standard high-resolution esophageal manometry, aiming at further clarifying esophageal dysmotility. Furthermore, the current diagnostic and therapeutic challenges in patients with esophageal involvement in Sjogren's syndrome and scleroderma, who tend to have severe forms of GERD, are entering a new investigative and clinical phase.
Topics: Deglutition; Esophageal pH Monitoring; Esophagus; Gastroesophageal Reflux; Humans; Manometry; Sjogren's Syndrome
PubMed: 32627210
DOI: 10.1111/nyas.14424 -
Seminars in Arthritis and Rheumatism Aug 2021Sjogren's syndrome (SS) is a chronic autoimmune disease with a highly variable presentation. This study aims to describe childhood SS (cSS) features to help guide... (Review)
Review
OBJECTIVE
Sjogren's syndrome (SS) is a chronic autoimmune disease with a highly variable presentation. This study aims to describe childhood SS (cSS) features to help guide clinicians in their consideration of and workup for cSS.
METHODS
We retrospectively reviewed medical records of patients with cSS referred to three Italian pediatric rheumatology centers from 2015 to 2019 and we conducted a literature review of cSS. Statistical analysis was performed to detect associations between clinical/laboratory features.
RESULTS
We reviewed 12 cases (9 female) followed in 3 Italian centers and 240 cases (191 female) in the published literature reporting individual information. The median age at disease onset was 10 years for both cohorts. The most frequently reported clinical SS-specific feature was parotitis in both cohorts (67% each). Extraglandular manifestations were very common and joint involvement was the most frequent. In the cluster analysis, we identified a significant association between parotitis and younger patients (< 11 years). We verified the presence of the main SS features (exocrine gland inflammation, exocrine gland dysfunction, and presence of autoantibodies) in the Italian cohort and the literature review-based cohort: 92% and 80% of the cohorts, respectively, had at least 2/3 main characteristics.
CONCLUSION
We described cSS features with relative frequencies and we found that parotid involvement was related to cSS in younger patients. The majority of patients showed various combinations of exocrine gland inflammation, exocrine gland dysfunction, and presence of autoantibodies giving a theoretical basis for future research to pave the way for the development of cSS specific diagnostic criteria.
Topics: Autoimmune Diseases; Child; Female; Humans; Italy; Parotitis; Retrospective Studies; Sjogren's Syndrome
PubMed: 33261821
DOI: 10.1016/j.semarthrit.2020.11.004 -
BMC Pulmonary Medicine Nov 2023We report a rare case of Sjogren's syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient... (Review)
Review
We report a rare case of Sjogren's syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic algorithms for diagnosing diffuse cystic lung disease and provide new insights. The patient initially complained of thirst and dry eyes for ten years, and gradually developed shortness of breath. After admission, physical examination showed five missing teeth, decreased respiratory sounds in both lower lungs, and Velcro rales. Computed tomography showed multiple thin-walled cystic lesions in both lungs. Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with Sjogren's syndrome. Before discharge, a rash suspected to indicate a fibrofollicular tumor in the neck was observed, and then FLCN variant has been found. The challenges how to clarify the diagnosis of DCLD causes are discussed.
Topics: Humans; Birt-Hogg-Dube Syndrome; Sjogren's Syndrome; Lung Diseases; Lung; Cysts
PubMed: 37993820
DOI: 10.1186/s12890-023-02680-5 -
The Journal of Laryngology and Otology Dec 2022This study aimed to evaluate primary Sjögren's syndrome patients in terms of hearing and vestibular functions.
OBJECTIVE
This study aimed to evaluate primary Sjögren's syndrome patients in terms of hearing and vestibular functions.
METHODS
The patient group consisted of 35 individuals diagnosed with primary Sjögren's syndrome and a control group of 35 healthy individuals similar in terms of age and gender.
RESULTS
The rate of hearing loss in the patient group was significantly higher than in the control group ( = 0.021). The N1 latency value for the ocular vestibular-evoked myogenic potentials test was significantly longer in the patient group than in the control group ( = 0.037). Additionally, the posterior semicircular canal and lateral semicircular canal vestibulo-ocular reflex gain values were significantly lower than in the control group ( = 0.022 and < 0.001, respectively).
CONCLUSION
These results indicate subclinical vestibular involvement and hearing loss in primary Sjögren's syndrome patients. Vestibular-evoked myogenic potentials and video head impulse tests can be used to detect vestibular involvement in primary Sjögren's syndrome patients.
Topics: Humans; Vestibular System; Sjogren's Syndrome; Head Impulse Test; Vestibular Evoked Myogenic Potentials; Reflex, Vestibulo-Ocular; Semicircular Canals; Hearing Loss; Hearing
PubMed: 35105387
DOI: 10.1017/S0022215122000391 -
Stem Cell Research & Therapy Jun 2022Primary Sjögren's syndrome (pSS) is a diffuse connective tissue disease characterized by the invasion of exocrine glands such as lacrimal and salivary glands, abnormal... (Review)
Review
Primary Sjögren's syndrome (pSS) is a diffuse connective tissue disease characterized by the invasion of exocrine glands such as lacrimal and salivary glands, abnormal proliferation of T and B lymphocytes, and infiltration of tissue lymphocytes. With the development of modern medicine, although research on the pathogenesis, diagnosis, and treatment of pSS has made significant progress, its pathogenesis has not been fully understood. Meanwhile, in the era of individualized treatment, it remains essential to further explore early diagnosis and treatment methods. Exosomes, small vesicles containing proteins and nucleic acids, are a subtype of extracellular vesicles secreted by various cells and present in various body fluids. Exosomes contribute to a variety of biological functions, including intercellular signal transduction and pathophysiological processes, and may play a role in immune tolerance. Therefore, exosomes are key to understanding the pathogenesis of diseases. Exosomes can also be used as a therapeutic tool for pSS because of their biodegradability, low immunogenicity and toxicity, and the ability to bypass the blood-brain barrier, implying the prospect of a broad application in the context of pSS. Here, we systematically review the isolation, identification, tracing, and mode of action of extracellular vesicles, especially exosomes, as well as the research progress in the pathogenesis, diagnosis, and treatment of pSS.
Topics: B-Lymphocytes; Exosomes; Extracellular Vesicles; Humans; Salivary Glands; Sjogren's Syndrome
PubMed: 35659085
DOI: 10.1186/s13287-022-02912-1 -
European Journal of Immunology Jan 2020Systemic sclerosis (SSc), systemic lupus erythematosus (SLE) and primary Sjögrens syndrome (pSS) are clinically distinct systemic autoimmune diseases (SADs) that share...
Systemic sclerosis (SSc), systemic lupus erythematosus (SLE) and primary Sjögrens syndrome (pSS) are clinically distinct systemic autoimmune diseases (SADs) that share molecular pathways. We quantified the frequency of circulating immune-cells in 169 patients with these SADs and 44 healty controls (HC) using mass-cytometry and assessed the diagnostic value of these results. Alterations in the frequency of immune-cell subsets were present in all SADs compared to HC. Most alterations, including a decrease of CD56 NK-cells in SSc and IgM Bcells in pSS, were disease specific; only a reduced frequency of plasmacytoid dendritic cells was common between all SADs Strikingly, hierarchical clustering of SSc patients identified 4 clusters associated with different clinical phenotypes, and 9 of the 12 cell subset-alterations in SSc were also present during the preclinical-phase of the disease. Additionally, we found a strong association between the use of prednisone and alterations in B-cell subsets. Although differences in immune-cell frequencies between these SADs are apparent, the discriminative value thereof is too low for diagnostic purposes. Within each disease, mass cytometry analyses revealed distinct patterns between endophenotypes. Given the lack of tools enabling early diagnosis of SSc, our results justify further research into the value of cellular phenotyping as a diagnostic aid.
Topics: Adult; Aged; Female; Flow Cytometry; Humans; Lupus Erythematosus, Systemic; Male; Middle Aged; Phenotype; Scleroderma, Systemic; Sjogren's Syndrome
PubMed: 31424086
DOI: 10.1002/eji.201948129 -
Internal Medicine (Tokyo, Japan) Aug 2021
Topics: Amyloid; Amyloidosis; Amyloidosis, Familial; Humans; Sjogren's Syndrome; Skin Diseases, Genetic
PubMed: 33583907
DOI: 10.2169/internalmedicine.6839-20 -
International Journal of Molecular... Jan 2023Sjögren's syndrome is a chronic and insidious auto-immune disease characterized by lymphocyte infiltration of exocrine glands. The patients typically present with... (Review)
Review
Sjögren's syndrome is a chronic and insidious auto-immune disease characterized by lymphocyte infiltration of exocrine glands. The patients typically present with ocular surface diseases related to dry eye and other systemic manifestations. However, due to the high prevalence of dry eye disease and the lack of objective and clinically reliable diagnostic tools, discriminating Sjögren's syndrome dry eye (SSDE) from non-Sjögren's syndrome dry eye (NSSDE) remains a challenge for clinicians. Diagnosing SS is important to improve the quality of life of patients through timely referral for systemic workups, as SS is associated with serious systemic complications such as lymphoma and other autoimmune diseases. The purpose of this article is to describe the current molecular understanding of Sjögren's syndrome and its implications for novel diagnostic modalities on the horizon. A literature review of the pre-clinical and clinical studies published between 2016 and 2022 was conducted. The SSDE pathophysiology and immunology pathways have become better understood in recent years. Novel diagnostic modalities, such as tear and saliva proteomics as well as exosomal biomarkers, provide hope on the horizon.
Topics: Humans; Quality of Life; Sjogren's Syndrome; Dry Eye Syndromes; Tears; Saliva
PubMed: 36675090
DOI: 10.3390/ijms24021580 -
Scandinavian Journal of Rheumatology Jan 2022: Interstitial lung disease (ILD) is a common feature of connective tissue disease (CTD). The diagnosis of CTD-ILD can be challenging and is important for therapeutic... (Observational Study)
Observational Study
: Interstitial lung disease (ILD) is a common feature of connective tissue disease (CTD). The diagnosis of CTD-ILD can be challenging and is important for therapeutic decisions. In this study, we aimed to determine whether a systematic rheumatological assessment could help pulmonologists in the diagnosis and care of ILD patients.: We conducted an observational single-centre study of patients with ILD. All patients underwent standardized pulmonary and rheumatological evaluations, including clinical evaluation (pulmonary symptoms and musculoskeletal signs), immunological screening, chest high-resolution computed tomography, pulmonary function tests, and ultrasonography (US) of joints and major salivary glands.: We included 100 consecutive ILD patients (47% women, mean ± sd age 67 ± 14 years); 15 patients already had CTD. The main extrapulmonary symptoms were joint pain (n = 52), joint swelling (n = 26), and sicca syndrome (n = 33). US of joints revealed synovitis, bone erosion, and tenosynovitis in 37, 17, and 13 patients, respectively. US of major salivary glands detected features associated with Sjögren's syndrome in 13 patients. After rheumatological evaluation, CTD-ILD was confidently diagnosed in 39 patients; diseases were mainly rheumatoid arthritis (n = 20), primary Sjögren's syndrome (n = 17), and inflammatory myopathies (n = 7). The diagnosis of CTD-ILD was associated with the presence of musculoskeletal symptoms and immunological and US abnormalities. The CTD diagnosis led to a therapeutic change in 21 patients.: Our findings suggest that musculoskeletal symptoms are frequent in ILD patients, which supports multidisciplinary management, involving the rheumatologist, for evaluating patients with ILD.
Topics: Aged; Aged, 80 and over; Connective Tissue Diseases; Female; Humans; Lung; Lung Diseases, Interstitial; Male; Middle Aged; Respiratory Function Tests; Sjogren's Syndrome
PubMed: 34132624
DOI: 10.1080/03009742.2021.1907945