Undifferentiated Connective Tissue Disease Research Articles

Undifferentiated Connective Tissue Disease and Interstitial Lung Disease: Trying to Define Patterns

ObjectivesTo identify clinical or immunological features in patients with undifferentiated connective tissue disease (UCTD) associated interstitial lung disease (ILD), in order to group them and recognize different functional and high resolution computed tomography (HRCT) behavior. MethodsRetrospective cohort study. Patients meeting Kinder criteria for UCTD were included. We defined the following predictive variables: ‘highly specific’ connective tissue disease (CTD) manifestations (Raynaud's phenomenon, dry eyes or arthritis), high antinuclear antibody (ANA) titer (above 1:320), and ‘specific’ ANA staining patterns (centromere, cytoplasmic and nucleolar patterns). We evaluated the following outcomes: change in the percentage of the predicted forced vital capacity (FVC%) during the follow-up period, and HRCT pattern. ResultsSixty-six patients were included. Twenty-nine (43.94%) showed at least one ‘highly specific’ CTD manifestation, 16 (28.57%) had a ‘specific’ ANA staining pattern and 29 (43.94%) high ANA titer. Patients with ‘highly specific’ CTD manifestations were younger (mean [SD] 52 years [14.58] vs 62.08 years [9.46], P<.001), were more likely men (10.34% vs 48.65%, P<.001) and showed a smaller decline of the FVC% (median [interquartile range] 1% [−1 to 10] vs −6% [−16 to −4], P<.006). In the multivariate analysis, the presence of highly specific manifestations was associated with improvement in the FVC% (B coefficient of 13.25 [95% confidence interval, 2.41 to 24.09]). No association was observed in relation to the HRCT pattern. ConclusionThe presence of ‘highly specific’ CTD manifestations was associated with female sex, younger age and better functional behavior. These findings highlight the impact of the clinical features in the outcome of patients with UCTD ILD.

Overlap of interstitial pneumonia with autoimmune features with undifferentiated connective tissue disease and contribution of UIP to mortality.

Criteria for interstitial pneumonia with autoimmune features (IPAF) were recently established for research purposes in a joint statement from the European Respiratory Society (ERS) and American Thoracic Society (ATS). We reviewed the utility of these criteria in patients previously diagnosed as broadly defined undifferentiated connective tissue disease (UCTD) and noted overlapping IPAF findings. Additional review was given to IPAF patients with usual interstitial pneumonia (UIP) on histopathology or radiology in terms of survival and outcome. Patients with prior UCTD-interstitial lung disease (ILD) were screened by ERS/ATS criteria for IPAF. Clinical data along with all-cause mortality were collated and compared with selected idiopathic pulmonary fibrosis (IPF) patients from the same study period. Survival was compared between IPAF subgroups with and without UIP features. One hundred and one UCTD-ILD subjects (91%) evaluated from 2005 to 2012 also met strict criteria for IPAF. Frequent clinical findings included Raynaud's phenomenon, positive anti-nuclear antibody (ANA) and non-specific interstitial pneumonia (NSIP) pattern on chest computed tomography (CT). Nineteen had features of UIP either on histopathology or CT imaging. As compared with IPF, IPAF patients had overall better survival except in those with UIP features. Current IPAF criteria encompassed the majority of broadly defined UCTD-ILD and included those with UIP findings. Survival compared with IPF in those with UIP was similar. Further studies are necessary to refine IPAF definitions for clinical use and guide directed management strategies.

Systemic Diseases in Dakar (Senegal): Spectrum, Epidemiological Aspect and Diagnostic Time-Limit

Introduction: Systemic diseases have been the subject of few studies in the African literature and have probably been under-estimated. The objective of our study was to specify their spectrum, their epidemiological aspects and diagnostic delay in Internal Medicine Departments of Dakar (Senegal). Material and Method: It was a multicentric retrospective and descriptive study regarding all systemic diseases during 119 months from 1st January 2005 to 30 November 2014 in 5 hospital centers down Dakar. Systemic diseases were retained according to their international consensus criteria. Results: During the studying period, 726 patients were included with 632 women and 94 men (sex ratio of 0.14). The average age was 43.76 years. Inflammatory rheumatoid family history was noted in 10.06% of cases. Rheumatoid arthritis (RA) was the predominant affection, recorded on 564 patients, isolated or associated with other systemic diseases. It was followed in a decreasing order, in the systemic auto-immune diseases sub-groupe, by systemic lupus (56 cases), Sjögren’s syndrome (32 cases), Systemic Sclerosis (26 cases), Idiopathic inflammatory myopathies (21 cases), Undifferentiated connective tissue diseases (20 cases), Anti Phospholipid’s syndrome (6 cases) and Mixed connective tissue disease (6 cases). A diagnosis of systemic vasculitis was recorded in 19 patients. The other systemic affections were represented by systemic sarcoidosis (8 cases), Adult-onset Still’s disease (03 cases), amyloidosis (02 cases) and 02 cases of systemic syndrome associated to immunodeficiency. The mean diagnostic delay duration before the diagnostic was 3.46 years. Conclusion: Systemic diseases in internal medicine are characterized by their diversity, the clear predominance of RA, and significant diagnostic delay.

Charakterystyka kliniczna i immunologiczna pacjentów z niezróżnicowaną chorobą tkanki łącznej i dominującą manifestacją skórną

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Celińska-Löwenhoff M, Pastuszczak M, Stec-Polak M, Tyrak K, Wojas-Pelc A, Musiał J. Clinical and immunological characteristics of patients with undifferentiated connective tissue disease and dominating skin manifestation. Dermatology Review/Przegląd Dermatologiczny. 2018;105(6):701-709. doi:10.5114/dr.2018.80838. APA Celińska-Löwenhoff, M., Pastuszczak, M., Stec-Polak, M., Tyrak, K., Wojas-Pelc, A., & Musiał, J. (2018). Clinical and immunological characteristics of patients with undifferentiated connective tissue disease and dominating skin manifestation. Dermatology Review/Przegląd Dermatologiczny, 105(6), 701-709. https://doi.org/10.5114/dr.2018.80838 Chicago Celińska-Löwenhoff, Magdalena, Maciej Pastuszczak, Magdalena Stec-Polak, Katarzyna Tyrak, Anna Wojas-Pelc, and Jacek Musiał. 2018. "Clinical and immunological characteristics of patients with undifferentiated connective tissue disease and dominating skin manifestation". Dermatology Review/Przegląd Dermatologiczny 105 (6): 701-709. doi:10.5114/dr.2018.80838. Harvard Celińska-Löwenhoff, M., Pastuszczak, M., Stec-Polak, M., Tyrak, K., Wojas-Pelc, A., and Musiał, J. (2018). Clinical and immunological characteristics of patients with undifferentiated connective tissue disease and dominating skin manifestation. Dermatology Review/Przegląd Dermatologiczny, 105(6), pp.701-709. https://doi.org/10.5114/dr.2018.80838 MLA Celińska-Löwenhoff, Magdalena et al. "Clinical and immunological characteristics of patients with undifferentiated connective tissue disease and dominating skin manifestation." Dermatology Review/Przegląd Dermatologiczny, vol. 105, no. 6, 2018, pp. 701-709. doi:10.5114/dr.2018.80838. Vancouver Celińska-Löwenhoff M, Pastuszczak M, Stec-Polak M, Tyrak K, Wojas-Pelc A, Musiał J. Clinical and immunological characteristics of patients with undifferentiated connective tissue disease and dominating skin manifestation. Dermatology Review/Przegląd Dermatologiczny. 2018;105(6):701-709. doi:10.5114/dr.2018.80838.

Вміст мінеральних компонентів у ротовій рідині дітей дошкільного віку з патологією опорно-рухового апарату

Musculoskeletal disorders (MSD) occupy a leading place among the diseases affecting the dental health of children. The composition and properties of the oral fl uid are an appropriate refl ection of the various processes in the body and can help to study the pathogenesis of tooth decay associated with MSD.The aim of the study – to determine mineral ingredients composition of saliva in children with MSD and to identify its relationship with dental caries.Materials and Methods. 90 5-year old children were examined and divided into three groups of 30 persons in each: fi rst – children with dental caries and MSD; the second – children with dental caries, MSD and undifferentiated connective tissue disease (UCTD); the third – children with dental caries without somatic pathology (comparison group). The deft values and levels of caries prevalence were evaluated. Mineral components of the saliva were determined by photometric method.Results and Discussion. The deft value was (6.17±0.52) in children with MSD, (8.00±0.50) in children with MSD and UCTD and (4.37±0.47) in children of the comparison group. In children with MSD total calcium level in the saliva was 33.80 % lower compared to that in comparison group and 25.53 % higher than in children with MSD and UCTD. The concentration of inorganic phosphorus in the saliva of children with MSD was 29.73 % lower compared to that in comparison group and 15.71 % higher than in children with MSD and UCTD. The same pattern has shown the magnesium level. Alkaline phosphatase activity in the saliva of both groups of children with MSD was lower than in comparison group.Conclusions. In the saliva of children with dental caries and MSD the defi ciencies of total calcium, inorganic phosphorus and magnesium, as well as reduced activity of alkaline phosphatase were revealed.

Diagnosis of systemic inflammatory diseases among patients admitted for acute pericarditis with pericardial effusion.

Acute pericarditis may be the heralding manifestation of various systemic inflammatory diseases (SIDs). The aim of this study was to identify clinical indicators for SIDs in patients admitted for acute pericarditis with pericardial effusion. All consecutive adult patients hospitalized in a Department of Internal Medicine over a 10-year period for acute pericarditis with pericardial effusion were retrospectively reviewed. Patients with cancer and tuberculosis were excluded. A structured clinical panel for extra-cardiac symptoms of SIDs was applied. SIDs were classified using current international criteria. Ninety-nine patients were admitted for acute pericarditis with pericardial effusion. After exclusion, 74 (49.7 ± 19.7 years, 56.7% women) patients were analyzed. Among them, 23 (23.2%) patients had a SID that was revealed by pericarditis in 12 cases. Systemic lupus erythematosus, undifferentiated connective-tissue disease, and Sjogren's syndrome accounted for 75% of the SID. Patients with SIDs were younger (P < 0.001), more frequently of female sex (P = 0.025), and had a higher frequency of extra-cardiac symptoms (P < 0.001) including arthralgia, myalgia, Raynaud phenomenon, and skin rash, as compared with patients with idiopathic pericarditis (n = 51). Overall, after exclusion of neoplasm and tuberculosis, the probability of SIDs in patients admitted with an acute pericarditis with pericardial effusion was 89.7% in patients younger than 50 who had extra-cardiac symptoms. Conversely, the probability fell to 8.4% in patients older than 50 with no extra-cardiac symptoms. Both age and extra-cardiac symptoms suggest an underlying SID as a possible cause of acute pericarditis.

Cardiac involvement in undifferentiated connective tissue disease at risk for systemic sclerosis (otherwise referred to as very early-early systemic sclerosis): a TDI study.

Undifferentiated connective tissue disease at risk for systemic sclerosis (UCTD-risk-SSc), otherwise referred to as very early-early SSc, is a condition characterized by Raynaud's phenomenon with serum SSc marker autoantibodies and/or typical capillaroscopic findings and unsatisfying classification criteria for the disease. The aim of the present study was to assess the prevalence of right (RV) or left ventricular (LV) systolic and/or diastolic dysfunction by standard echocardiography and tissue Doppler imaging (TDI). Thirty patients with UCTD-risk-SSc (28 female, mean age 47±13years, range 21-70) and 30 age- and sex-matched controls underwent cardiac assessment by standard echocardiography and TDI. UCTD-risk-SSc patients and controls did not show any difference at standard echocardiography. Despite results falling within the respective normal ranges, TDI pointed out a mild impairment of LV and RV diastolic (E m 15±4 vs. 19±5, p=0.0004; E/E m 6.1±1.7 vs. 4.8±1.2, p=0.001; E t 14±3 vs. 16±2, p=0.02; E t/A t 0.9±0.4 vs. 1.3±0.3, p=0.002; E/E t 3.5±1.2 vs. 4.2±0.9, p=0.02) and systolic function (S m 13±3 vs. 15±2cm/s, p<0.0003; S t 14±2 vs. 16±3cm/s, p<0.0001) and increased estimated pulmonary artery wedge pressure (9±2 vs. 8±1, p=0.001) in UCTD-risk-SSc patients as compared to controls. Notably, a statistically significant difference also emerged in the prevalence of TDI detected E'/A't, (71% of UCTD-risk-SSc patients vs. 19% of controls; p<0.0001). Our study shows that UCTD-risk-SSc patients show a previously unrecognized, mild biventricular systolic and diastolic dysfunction as compared to controls. The pathophysiologic meaning as well the predictive value of developing overt SSc await to be elucidated.

029. Kikuchi disease as a heralding feature of Undifferentiated Connective Tissue Disease (MCTD predominant)

029. Kikuchi disease as a heralding feature of Undifferentiated Connective Tissue Disease (MCTD predominant)

CLINICAL SIGNIFICANCE OF ANTI-RO52/TRIM21 ANTIBODIES IN SYSTEMIC AUTOIMMUNE RHEUMATIC DISORDERS: PRELIMINARY RESULTS

Although antibodies targeting Ro52 protein/TRIM21 are commonly detected in systemic autoimmune rheumatic disorders (SARDs), their clinical significance and pathobiologic role remains incompletely understood. Objectives. We aimed to define clinical relevance and immunological associations of anti-Ro52/TRIM21 positivity in a cohort of patients with SARDs. Methods. We retrospectively reviewed medical records of 97 consecutive SARDs who attended at least once our Rheumatology Department between March 2016 and June 2017. Clinical manifestations, rheumatoid factor (RF) (Latex and Waalter-Rose tests), antinuclear antibodies (ANA&gt;1:100, immunofluorescence assays) as well as detailed ANA profile (nRNP/Sm, Sm, SS-A/Ro, Ro52/TRIM21, SS-B/La, Scl-70, PM/Scl, Jo-1, CENP-B, PCNA, dsDNA, nucleosome, histone, P-ribosomal protein, AMA-M2, DFS70) (line immunoblot assay) were systematically evaluated. Statistical analysis was performed in SPSS19.0, assuming significance for p&lt;0.05; the chi-squared test was applied to determine the association between anti-Ro52/TRIM21 status and clinical manifestations of SARDs. Results. Only 27 patients (23.7%) had anti-Ro52/TRIM21 positive disease and were further analyzed. Isolated anti-Ro52/TRIM21 were detected in 7/27 (25.9 %) cases, while the majority had dual anti-Ro52/TRIM21 positivity and anti-Ro (n=7/20; 35%), anti-dsDNA (n=3/20, 15%), anti-Jo1 (n=3/20, 15%), anti-centromere B (n=2/20; 10%), anti-Scl70 (n=2/20; 10%), anti-RNP/Sm (n=2/20, 10%), anti-Pm/Scl (n=1/20, 5%), and RF (n=13; 65%). Patients were classified as Sjögren’s syndrome (n=7/27, 25.9%), myositis (n=3/27, 11.1%), systemic lupus erythematosus (n=3/27, 11.1%), systemic sclerosis (n=4/27,15.2%), mixed (n=3/27, 11.1%) or undifferentiated connective tissue disease (n=7/27, 25.9%). More than half of anti-Ro52/TRIM21 positive patients presented with interstitial lung fibrosis (18/27, 66.6%), insolated (33.3%) or in association with anti-Jo1 (33.3%). Conclusions. Anti-Ro52/TRIM21 antibodies should be systematically evaluated in patients with SARDs, as anti-Ro52 positivity (either isolated or in combination with different other ANA specificities) may be associated with definite clinical features. Anti-Ro52/TRIM21 may be useful in identifying a subgroup of patients at risk for developing certain symptoms (particularly interstitial lung disease) of SARDs, with specific therapeutic outcomes.

Undifferentiated connective tissue diseases and adverse pregnancy outcomes. An undervalued association?

Undifferentiated connective tissue diseases (UCTDs) are a heterogeneous group of disorders characterized by symptoms and signs suggestive of systemic autoimmune rheumatic disease (ARD), but which do not fulfill all the established criteria for definite diagnosis of a condition. Although a third of UCTDs can progress to a definite ARD within months or years, most UCTDs can remain stable for years with minimal disease activity. The annual incidence of UCTD in the general population ranges from 14 to 140 per 100000 people. UCTDs are associated with the persistence of several circulating autoantibodies including antinuclear, antiphospholipid or antithyroid antibodies. Immunological evaluation of subjects with UCTDs suggests a proinflammatory state and dysregulation of the Th1/Th2 balance. Autoantibodies have well-known deleterious effects on placentation and have been associated with an increased risk of prematurity, fetal growth restriction (FGR), preeclampsia, and congenital atrioventricular heart block. Although epidemiological and biological data suggest a potential negative impact on reproductive outcomes, the relationship between UCTD and pregnancy outcomes has not been adequately studied. While awaiting definitive data from large studies, obstetricians should be aware that rheumatic disorders in their early, incomplete, or undifferentiated phases can adversely affect pregnancy outcomes, increasing the likelihood of pregnancy loss, FGR, preeclampsia, and prematurity.

Sicca syndrome ‐ disease continnum. Anatomical, functional and systemic assessment

PurposeTo evaluate objective findings in the ophthalmologic examination and search for patterns of association with the clinical and laboratory characteristics in patients with Sicca Syndrome (SiS).MethodsCross‐sectional study of 80 eyes of 80 patients with SiS divided into four groups. 20 patients with pSS for more than 10 years (group1), 20 patients with pSS for less than 2 years (group 2), 20 patients with SiS associated to undifferentiated connective tissue disease (UCTD) (group 3) and 20 patients with SiS without UCTD (group 4). Demographic, clinical and immunologic data were recorded. Ophthalmologic examinations included Schirmer test, break up time (BUT), Corneal Staining Score (CSS), tear meniscus evaluation in Anterior Segment – Optical Coherence Tomography (AS‐OCT) and corneal sub‐basal nerve plexus (CSNP) measurements with in vivo Confocal Microscopy (IVCM).ResultsGroup 1 had an early diagnosis when compared with group 2. Group 1 presented a higher frequency of positivity for anti‐SSA, anti‐SSB, Rheumatoid Factor and ANA titers compared to groups 2‐4 (p&lt;0.05). Patients in group 1 presented more frequently systemic manifestations compared to groups 2‐4 (p&lt;0.05). Sjogren Syndrome Activity Index (SSDAI) correlated positively with positive anti‐SSA (r=0.470, p&lt;0.0005). Group 1 showed a higher CSS and a lower BUT, tear meniscus height and area compared to group 2 and 3 (p&lt;0.005). CSNP's length and density were significantly smaller in group 1 compared to group 2 and 3 (p&lt;0.05).ConclusionsCSNP's density and length, as well as tear meniscus area and height are smaller in advanced pSS compared to pSS with recent diagnostic and SiS‐UCTD. AS‐OCT and IVCM may be useful for risk stratification in SiS.

The autoimmune/inflammatory syndrome induced by adjuvants (ASIA)/Shoenfeld's syndrome: descriptive analysis of 300 patients from the international ASIA syndrome registry.

The autoimmune/inflammatory syndrome induced by adjuvants (ASIA) is a recently identified condition in which the exposure to an adjuvant leads to an aberrant autoimmune response. We aimed to summarize the results obtained from the ASIA syndrome registry up to December 2016, in a descriptive analysis of 300 cases of ASIA syndrome, with a focus on the adjuvants, the clinical manifestations, and the relationship with other autoimmune diseases. A Web-based registry, based on a multicenter international study, collected clinical and laboratory data in a form of a questionnaire applied to patients with ASIA syndrome. Experts in the disease validated all cases independently. A comparison study regarding type of adjuvants and differences in clinical and laboratory findings was performed. Three hundred patients were analyzed. The mean age at disease onset was 37years, and the mean duration of time latency between adjuvant stimuli and development of autoimmune conditions was 16.8months, ranging between 3days to 5years. Arthralgia, myalgia, and chronic fatigue were the most frequently reported symptoms. Eighty-nine percent of patients were also diagnosed with another defined rheumatic/autoimmune condition. The most frequent autoimmune disease related to ASIA syndrome was undifferentiated connective tissue disease (UCTD). ASIA syndrome is associated with a high incidence of UCTD and positive anti-nuclear antibodies (ANA) test. Clinical and laboratory features differ from the type of adjuvant used. These findings may contribute to an increased awareness of ASIA syndrome and help physicians to identify patients at a greater risk of autoimmune diseases following the exposure to vaccines and other adjuvants. The ASIA syndrome registry provides a useful tool to systematize this rare condition.

Undifferentiated connective tissue disease, fibromyalgia and the environmental factors.

The aim of this study was to discuss the role of environmental factors in the induction and perpetuation of autoimmunity, with particular focus on undifferentiated connective tissue disease (UCTD) and fibromyalgia. These two entities may share undefined clinical and laboratory features and recognize environmental exposures as triggering factors. From this particular point of view, both UCTD and fibromyalgia may resemble the picture of the 'Autoimmune/Inflammatory Syndrome Induced by Adjuvants' (ASIA). A case-control study on environmental exposures showed that patients with UCTD were significantly more exposed to several adjuvants (vaccines, metal implants, proximity to metal factories and foundries) than age and sex-matched healthy controls. UCTD exposed to major ASIA triggers (vaccines, silicone) displayed typical features of ASIA (general weakness, chronic fatigue, irritable bowel syndrome) in the context of a predisposing genetic background (familiarity for autoimmunity). The induction and perpetuation of autoimmunity is a complex process that requires the interaction between the individual genetic background and the environment. Environmental factors are gaining increasing attention since the description of ASIA, a syndrome that includes symptoms typically seen in patients with fibromyalgia and UCTD. A recent case-control study focusing on environmental exposures suggested that nearly half of patients with UCTD may fall within the ASIA spectrum.

Clinical associations of the positive anti Ro52 without Ro60 autoantibodies: undifferentiated connective tissue diseases

AimsAutoantibodies targeting Ro52 and Ro60 antigens are historically reported as anti SSA/Ro. In general anti SSA/Ro results are either anti Ro52+Ro60+ or anti Ro52−Ro60+ antibodies. Anti Ro52 without anti Ro60...

Lung involvement in "stable" undifferentiated connective tissue diseases: a rheumatology perspective.

Previous studies of the occurrence of interstitial lung disease (ILD) in undifferentiated connective tissue diseases (UCTD) were conducted in patients admitted to Respiratory Medicine Units. The aim of the present prospective study was to investigate lung involvement in UCTD patients admitted to a Rheumatology Unit. Eighty-one consecutive UCTD patients were enrolled in the study. Each patient underwent history and physical examination, routine laboratory investigations, antinuclear antibody (ANA) profiling, B-mode echocardiography, and lung function study according to previously reported methods. Lung high resolution computed tomography (HRCT) was performed in patients who provided informed consent. Six patients (7.4%) had a history of grade II dyspnea. Three of them had a DLCO ranging from 42 to 55% of the predicted value; and a HRCT-documented ILD with a non-specific interstitial pneumonia (NSIP) pattern. Symptoms in the other three patients were due to cardiac disease. None of the 75 asymptomatic patients, had relevant findings at physical examination, 26/75 had a DLCO <80% (<70% in 10 cases). Of these, 3 of the 30 patients who underwent lung HRCT were affected by NSIP-ILD. Six of the 81 enrolled were affected by ILD, which was symptomatic in three patients. A higher percentage of patients had a reduced DLCO. The latter finding may reflect a preradiographic ILD or a preechocardiographic pulmonary vascular disease.

An unusual case of acquired partial lipodystrophy in undifferentiated connective tissue disease: Case report and review

An unusual case of acquired partial lipodystrophy in undifferentiated connective tissue disease: Case report and review

Low detection of hepatitis B and occult hepatitis B infection in patients with rheumatic diseases

BackgroundA new form of hepatitis B virus (HBV) infection, occult hepatitis B infection (OBI), has been identified and reported among patients with rheumatic diseases. Aim of the workTo determine the incidence of HBV infection and OBI in patients with rheumatic diseases referred to major hospitals in the city of Ahvaz in Iran. Patients and methods136 patients with rheumatic diseases were included. Serological assays for HBV markers (HBsAg, HBcAb and HBsAb) were performed by enzyme-linked immunosorbent assay. All the sera were tested for HBV DNA using nested PCR and real-time PCR. All samples were negative for anti-HCV and anti-HIV antibodies. ResultsThe mean age of the patients was 43.5±12.02years with a F:M 2.24:1. 2 (1.47%) cases with undifferentiated connective tissue disease tested positive for both HBsAg and HBV DNA. Quantitative HBV real-time PCR was carried out for the 134 negative HBsAg samples and only 1 (0.74%) patient was positive for OBI. The results of sequencing and alignment showed that the detected HBV DNAs belonged to the D genotype, ayw2 subtype. The nucleic acid sequence of OBI case revealed substitution changes in amino acids in the positions of the 171-4 of HBsAg gene. ConclusionA moderate rate of HBV infection and low detection of OBI is found in patients with rheumatic diseases in southwest Iran. The amino acid substitutions and mutation have been observed at the position of 171-4 in the S gene region of HBV DNA which may affect the detection of HBsAg by commercial immunoassay methods.

Intracranial lesion as onset symptom in a patient with early undifferentiated connective tissue disease: a case report

BackgroundUndifferentiated connective tissue disease (UCTD) is widely considered to be a distinct clinical entity, and now divided into two subgroups: stable UCTD and early UCTD. The most frequent onset symptoms of UCTD include arthralgias, arthritis, Raynaud’s phenomenon, mucocutaneous involvement, and sicca symptoms. However, Neurologic involvement is rare, and intracranial lesion as onset symptom in a patient with early UCTD has not yet been reported.Case presentationA 51-year-old Chinese female experienced progressive left leg weakness for 14 days before hospitalizing in our department. The lesion on right parietal lobe was initially detected by brain magnetic resonance imaging. Although the patient declined a cerebral biopsy, the possibility of stroke, cerebral venous sinus thrombosis, NMOSD, MS, autoimmune encephalitis, intracranial infections, and malignant tumors as cause of the lesion was excluded by intracranial angiogram, CSF study, MRI enhancement and MRS examination. Moreover, immunologic studies showed high titer of antinuclear antibody, increased erythrocyte sedimentation rate and C-reactive protein. These results led to a diagnosis of early UCTD with central nerve system (CNS) involvement. After low dose corticosteroid and azathioprine therapy, the patient’s symptoms, abnormalities in immunologic tests and cerebral radiologic examinations were all greatly improved within a short duration.ConclusionsThis is the first report of intracranial lesion as onset symptom in a patient with early UCTD. Our case suggested that central nerve system (CNS) involvement could be the onset symptom in early UCTD, and should be recognized quickly with exclusion of other causative factors in the differential diagnosis. Prompt and adequate treatment with low-dose steroid and immunosuppressive drugs could improve the prognosis of both early UCTD and CNS involvement.

Women with silicone breast implants and autoimmune inflammatory syndrome induced by adjuvants: description of three patients and a critical review of the literature

Silicone has been widely used in the manufacture of medical implants. It is well tolerated in most cases. However, in this paper we report the cases of three women who developed autoimmune/inflammatory syndrome induced by adjuvants (ASIA syndrome), namely with silicone breast implants. The symptoms in these cases include arthralgia, arthritis, myalgia, sleep disturbances, the appearance of autoantibodies, miscarriage, Raynaud's phenomenon, and involvement of autoimmune diseases (scleroderma and undifferentiated connective tissue diseases). In one patient, breast implants were removed, but no improvement was seen after the removal. The remaining two patients received the updated information about their condition, and they decided not to remove the implants. In conclusion, earlier reports that silicone is biologically relatively inert have recently been challenged with the description of ASIA syndrome.

Presence of an interferon signature in individuals who are anti-nuclear antibody positive lacking a systemic autoimmune rheumatic disease diagnosis

BackgroundElevated levels of type I interferons (IFNs) are a characteristic feature of the systemic autoimmune rheumatic diseases (SARDs) and are thought to play an important pathogenic role. However, it is unknown whether these elevations are seen in anti-nuclear antibody–positive (ANA+) individuals who lack sufficient criteria for a SARD diagnosis. We examined IFN-induced gene expression in asymptomatic ANA+ individuals and patients with undifferentiated connective tissue disease (UCTD) to address this question.MethodsHealthy ANA− control subjects and ANA+ titre (≥1:160 by immunofluorescence) participants meeting no criteria, meeting at least one criterion (UCTD) or meeting SARD classification criteria were recruited. Whole peripheral blood IFN-induced and BAFF gene expression were quantified using NanoString technology. The normalized levels of five IFN-induced genes were summed to produce an IFN5 score.ResultsThe mean IFN5 scores were increased in all ANA+ participant subsets as compared with healthy control subjects. We found that 36.8% of asymptomatic ANA+ and 50% of UCTD participants had IFN5 scores >2 SD above the mean for healthy control subjects. In all ANA+ subsets, the IFN5 score correlated with the presence of anti-Ro/La antibodies. In the asymptomatic ANA+ subset, this score also correlated with the ANA titre, whereas in the other ANA+ subsets, it correlated with the number of different ANA specificities. Development of new SARD criteria was seen in individuals with normal and high IFN5 scores.ConclusionsAn IFN signature is seen in a significant proportion of ANA+ individuals and appears to be associated with ANA titre and type of autoantibodies, rather than with the presence or development of clinical SARD symptoms.