Diagnosis Of SS Research Articles

Knowledge and Attitudes of Blood Donors Toward Sickle Cell Anemia in Ibadan.

Background Sickle cell anemia (SCA) is a common condition of public health concern in Nigeria. Different therapeutic approaches have been developed to manage SCA, including blood transfusion. In a bid to develop a sustainable solution to the blood supply pool, the SmileBuilders Initiative organizes a blood donation drive (Donate-A-Pint Project) quarterly in Ibadan, Nigeria. This study aimed to assess the awareness, knowledge, and attitudes of blood donors in Ibadan, Nigeria, towards SCA. Methods A descriptive cross-sectional study was conducted at the University College Hospital Blood Bank in Ibadan over a period of three months. A validated questionnaire, based on similar studies in Nigeria, was used to collect data from blood donors. The SPSS version 23 was used for data analysis, and the chi-square test of independence assessed associations between variables, with a significance level of 0.05. Results Among 205 donors, 68.8% were male, and 42.4% were in the age category of ≥25 years. Most donors (60.0%) were university students. While 12.3% had never heard of SCA, 79.5% were aware of their genotype. Regarding the intrauterine diagnosis of hemoglobin SS (HbSS), 20.0% would allow pregnancy, 31.7% would abort, and 48.3% were undecided. Most respondents (73.2%) had good knowledge of SCA (mean score = 7.0/10.0). If partners were found to have SCA after marriage, 42.9% were undecided. Knowledge of SCA was significantly associated with sex (p = 0.017) and education level (p = 0.001). Conclusion Blood donors in Ibadan have good knowledge, awareness, and attitudes toward SCA. However, more health education would benefit the population.

Thrombotic Thrombocytopenic Purpura Complicating Secondary Sjögren's Syndrome: A Rare and Serious Association from Africa

Thrombotic Thrombocytopenic Purpura is a potentially fatal disease that can be life-threatening. The association with Sjogren’s syndrome is rare entity that deserves special attention. To this end, we report the case of a Thrombotic thrombocytopenic purpura complicating secondary Sjögren's syndrome. This is a 49-year-old patient with a history of pure nephrotic syndrome with minimal glomerular lesions (LGM), who developed Sjögren's syndrome two years later. The diagnosis of Sjögren's syndrome was retained with an etiological investigation suggesting SS secondary to SLE systemic lupus erythematosus. Six months after the diagnosis of secondary SS, the patient was admitted with headache, ecchymotic and petechial lesions on the upper limbs. The laboratory analysis revealed severe thrombocytopenia, haemolytic anemia with a schizocyte count at 6% supporting the diagnosis of thrombotic microangiopathy. The ADAMTS 13 activity assay was less than 5% and the anti-ADAMTS 13 antibody test was positive, attesting thus, the diagnosis of acquired TTP complicating SS secondary to SLE. The patient received an emergency blood transfusion of fresh frozen plasma combined with corticosteroid therapy and mycophenolate mofetil. The clinico-biological outcome, at 6 month and 1 year, was favorable with complete remission. To the best of our knowledge, this is the first case report of TTP complicating Sjögren’s syndrome in Africa. It highlights the rarity of association between autoimmune disease particulary Sjögren’s syndrome and TTP.

A single-center study of clinical features of pediatric Sjögren’s syndrome

ObjectiveSjögren’s syndrome (SS) is a rare disease with unclear diagnostic criteria among the children and adolescents. The purpose of this study is to describe the clinical features of pediatric Sjögren’s syndrome and validate with Japanese diagnostic guidelines criteria of 2018.MethodsWe conducted a retrospective analysis of the clinical data of a cohort of 54 patients with pediatric Sjögren’s syndrome admitted to our hospital over a total of 10 years from September 2013 to September 2022.ResultsThe ratio of females to males was 49:5 among the 54 children (34 cases of primary SS and 20 cases of secondary SS), the average age of onset of symptoms for the first time was 9.9 years, and the average age at diagnosis was 10.2 years. In terms of subjective symptoms, 7 cases (13.0%) presented with dry mouth and 5 cases (9.3%) reported dry eyes. The positive rates were 9.3% for Schirmer I test, 70.4% for salivary gland function test, and 55.6% for salivary gland ultrasonography. The positive rates were 94.4% for Anti-Ro/SSA antibodies, 66.7% for Anti-La/SSB antibodies, 88.9% for ANA, 59.3% for RF, and the elevation rate of IgG was 63.0%. Among the EULAR Sjögren’s syndrome disease activity index (ESSDAI) domains, the biological, constitutional, glandular, cutaneous, and lymphadenopathy domains were most involved. Treatment consisted of glucocorticoids in 88.9% of the patients in our study and hydroxychloroquine in 92.6%. As per the Japanese version of the clinical practice guidance for Sjögren’s Syndrome in pediatric patients (2018), 5 cases were identified as Definite SS, 35 cases as Probable SS, and 14 cases as Possible SS. With respect to primary and secondary SS, there was essentially no significant difference between the groups in any of the above aspects.ConclusionsPatients with pediatric SS presented with a wide spectrum of clinical features, a low prevalence of reported symptoms of dry mouth and dry eyes, and various clinical manifestations with multi-system involvement. These are similar to other pediatric study cohorts in terms of epidemiology, auxiliary investigation results, disease activity scores, and treatment. The coincidence between our study and the Japanese version of the clinical practice guidance for Sjögren’s Syndrome in pediatric patients (2018) is good for the diagnosis of pediatric SS.

Oral Disorders in Sjögren’s Syndrome

Abstract Sjögren’s syndrome (SS) is a complex, chronic, systemic, autoimmune disease that mainly affects the exocrine glands, especially the salivary and lacrimal glands, leading to the dryness of the mouth and eyes, along with fatigue, joint and muscle pain. The prevalence of SS is estimated to be between 0.05% and 1% in European population. Diagnosis of SS is based on the revised criteria of the American-European consensus group (AECG). Sjögren’s syndrome can be subclassified into primary disease (primary Sjögren syndrome, pSS) and a secondary disease (secondary Sjögren syndrome, sSS) when present with rheumatoid arthritis (RA), systemic lupus erythematosus (SLE) and systemic sclerosis. The decrease in salivary flow and qualitative alterations in saliva could explain many of the oral manifestations frequently present in patients with SS. Low salivary flow may affect chewing, swallowing, speech and sleeping in pSS patients. Oral manifestations include dental erosion, dental caries, mucosal infection, ulcers and oral candidiasis. Recent studies reveal that pSS patients experience impaired olfactory and gustatory functions and have higher occurrence of oral complications such as dysgeusia, burning sensation in the tongue (BST) and halitosis. The exocrine manifestations and systemic involvement in SS significantly impact the patient’s perception of oral healthrelated quality of life (OHRQoL).

Primary Sjögren’s syndrome misdiagnosed as Mikulicz’s disease: a case report

BackgroundSjögren’s Syndrome (SS) is an inflammatory autoimmune disease, and Mikulicz’s disease (MD) is a lymphoproliferative disorder. Both MD and SS are more common in middle-aged female, and the dry eyes could be presented in both of them with different degree. The MD patients are characterized by symmetrical swelling of the lacrimal glands which also can occur in the early stage of SS. And the imaging findings between early stage of SS and MD are lack of specificity. Therefore, SS and MD have similarities in the clinical manifestations, imaging and pathological findings and are confused in diagnosis.Case presentationA 51-year-old female patient presented with bilateral swelling of the upper eyelids for 2 years. She also reported having dry mouth and dry eyes which could be tolerated. The Schirmer’s test result is positive and the laboratory tests indicate serum total IgG increased. In the bilateral lacrimal gland area could palpate soft masses. The orbital magnetic resonance imaging (MRI) examination showed bilateral lacrimal gland prolapse. While the histopathological result was considered as MD. The immunohistochemical (IHC) staining results were positive for IgG and negative for IgG4. To clarify the diagnosis, SS-related laboratory tests were performed: anti-SSA antibody (+++), anti-SSB antibody (+++), anti-Ro-52 antibody (+++). With a comprehensive consideration, the final diagnosis was SS.ConclusionWhen the clinical manifestations are atypical, it is necessary to pay attention to the differential diagnosis of SS and MD.

Differences in Progression and Survival Among Black Patients with Mycosis Fungoides and Sézary Syndrome: A Multicenter Retrospective Analysis at Large Urban Medical Centers

Introduction Black (B) patients with Mycosis fungoides and Sézary Syndrome (MF/SS) have inferior survival and distinct clinical presentations, including many high risk features compared to White patients. We sought to characterize clinical differences in presentation, treatment, and outcomes to identify drivers of disparities among B patients with MF/SS. Methods We performed a retrospective review of 1,197 patients with MF/SS seen between 2010 and 2021 at 7 academic institutions in the United States that serve populations with large numbers of Blacks and minorities. Patients with a confirmed histopathologic diagnosis of MF or SS on internal or external review and consistent follow up were eligible for inclusion. The primary objective was to assess differences in clinical characteristics and survival between B and non-Black (NB) patients. Clinical variables included demographics, insurance, TNMB stage at diagnosis and highest stage. Descriptive analysis was performed for each variable. Comparison between B and NB patients utilized ANOVA for numerical covariates and Chi-square test or Fisher's exact test for categorical covariates. Kaplan-Meier curves for OS were generated, and subgroups were analyzed separately by Cox Proportional hazards model. Results Self-reported race among the cohort was 508 (42.4%) Black, 638 (53.3%) White, and 51 (4.4%) were other races (14 Asian, 14 Hispanic, 2 American Indian or Alaska Native, 21 unknown). 295 patients (25.9%) progressed to a higher stage during their treatment course. The median survival of the whole cohort (n=1,045, 152 had implausible or missing survival data) was 18.3 years, (95% CI: 12.3-22.2). B patients were younger (median 51 years in B vs. 63 in NB, p<0.001), more often female (55.9% in B; 37.9% in NB, p<0.001), and had higher rates of S. aureus bacteremia during their disease course (17.6% in B, vs. 7.9% in NB, p< 0.001, table 1A). There was no difference in insurance status (private, Medicare/Medicaid, or uninsured), comorbidities, or large cell transformation by racial group. There were differences in overall TNMB stage at diagnosis (p<0.001) and T- and N-stage at diagnosis by racial group (p<0.001 for each), with Black patients generally presenting with a higher stage. There were also differences in highest stage reached (p<0.001), with different patterns of progression in the T (p<0.001) and N stage (p=0.005). Black patients had higher rates of T2b (plaque stage > 10% BSA, 11.1% vs. 21.8%), whereas NB patients had higher rates of T3 (tumor stage, 27.3% in NB vs. 17.5% in B). There were higher rates of stage progression among B vs. NB patients, p=0.025. Overall, 152 (23.4%) of NB patients progressed compared to 143 (29.3%) of B patients. The median survival for B patients was 13.1 years (95% CI 10.3, not reached) versus 21.3 years in NB patients (95% CI: 13.2, not reached), however this did not reach statistical significance in the overall cohort (figure 1B). On univariate analysis, race and gender were not associated with survival, however on subgroup analysis among patients <age 60 at diagnosis, black race was associated with inferior survival (p=0.023, figure 1C). Other covariates associated with inferior survival included age (p<0.001), number of comorbidities (p< 0.001), insurance status (p<0.001), S. aureus bacteremia (p< 0.001), higher overall TNMB stage (p<0.001), higher individual T, N, M and B stage (p<0.001 for each), and clonal TCR in the blood (p<0.001 each). Hypopigmented MF (HMF) was associated with a lower risk of death (HR: 0.39 (0.23-0.66) p<.001). On multivariable Cox proportional hazard model, age at diagnosis, comorbidities, highest overall TNMB stage, and highest N stage remained statistically significant for survival. Conclusions In one of the largest multicenter analyses in MF/SS, with the largest black CTCL population ever described, we found that black patients had distinct presentations, higher rates of progression, with inferior survival in the younger cohort compared to non-black patients. Future studies aiming to disentangle the specific contributions of competing and opposing risk factors affecting survival in Black patients, such as over-representation of HMF (favorable risk factor), higher rates of S. aureus bacteremia, different distributions in age, stage, and gender, and social determinants of heath, are currently ongoing. Additional analyses will be updated at the time of the presentation. Figure 1View largeDownload PPTFigure 1View largeDownload PPT Close modal

P40 Dry eyes and a dry mouth: is it Sjögren’s syndrome?

P40 Dry eyes and a dry mouth: is it Sjögren’s syndrome?

289. PRIMARY MONOPHASIC SYNOVIAL SARCOMA OF THE CERVICAL ESOPHAGUS CONFIRMED BY DETECTION OF THE SS18-SSX2 FUSION TRANSCRIPTS

Abstract Synovial sarcoma (SS) of the esophagus is extremely rare. Because of the microscopic features of SS, the monophasic type can easily be misdiagnosed as other spindle cell tumors. Here, we present the first case of a primary SS of the esophagus in the presence of SS18-SSX2 fusion transcripts. A 47-year-old Japanese woman was initially diagnosed with thyroid papillary carcinoma in the left lobe and leiomyoma of the cervical esophagus and subsequently underwent left thyroid lobectomy and enucleation of the esophageal tumor. Four years after the first surgery, the esophageal tumor recurred. Endoscopic biopsy of the tumor revealed atypical cell proliferation with spindle cell features and mitoses. Immunohistochemistry showed focal positivity for bcl-2 and HHF35. Furthermore, the presence of SS18-SSX2 fusion transcripts was confirmed by reverse transcription-polymerase chain reaction analysis, using a paraffin-embedded tumor specimen. Therefore, the tumor was diagnosed as monophasic SS of the cervical esophagus. We re evaluated the surgical specimen enucleated 3 years previously, which was initially diagnosed as leiomyoma, and the diagnosis of SS was confirmed. The patient underwent cervical esophagectomy with isolated jejunal interposition reconstruction. Three years after the second surgery, SS recurred in the distal anastomotic site between the jejunum and the esophagus, and the patient underwent thoracoscopic esophagectomy with gastric conduit reconstruction. The pathological grade of the lesion worsened with every recurrence. Monophasic SS can be difficult to discriminate from other spindle cell tumors based on microscopy alone, and molecular analysis could be useful for confirming the precise diagnosis of monophasic SS.

Clinical and laboratory evaluation of sicca complaints: distinctive aspects of primary, secondary and non-Sjogren syndrome

BackgroundSjögren Syndrome (SS) is a systemic autoimmune disease with a wide spectrum of manifestations that can lead to misdiagnosis. This study describes and compares demographic, clinical, serological, and histopathological data from subjects with SS and non-Sjögren Syndrome (NSS). It also details specific features within the primary SS (pSS) and secondary SS (sSS) groups identifying sub-groups.MethodsThe sample included individuals referred to an academic medical center in Brazil for investigation of SS from 2012 to 2020. Patients were retrospectively classified as primary SS (pSS), secondary SS (sSS), or NSS, based on the American-European Consensus Group criteria (AECG-2002), after multi-professional clinical and laboratory evaluation.ResultsA total of 676 individuals were screened and 510 (75.4%) completed the assessments; 198 patients were classified as pSS, 149 as sSS, and 163 as NSS. Symptoms and glandular dysfunction tests were similar in the groups. Concerning pSS, extraglandular manifestations were present in 59% of patients; the elderly had more dry symptoms and peripheral neurological disorders; and 2.5% developed non-Hodgkin lymphoma. In sSS, each overlap promoted distinct clinical and laboratory variants. Several alternative diagnoses were identified as a cause of sicca complex in NSS group.ConclusionsThe diagnosis of SS remains a challenge behind dryness. Up to 31% of the suspected cases had other conditions associated to the symptoms. Histopathological analysis of LSG and SSa determined the diagnostic. Aging in pSS and overlap disease in sSS were responsible for distinct phenotypes and characteristic sub-groups in SS.

Anti-HMGB1 antibody is a potential characteristic autoantibody for Sj\xf6gren's syndrome

Sjögren's syndrome (SS) is a common chronic inflammatory autoimmune disease that affects about 0.33–0.77% population in China. The positive for antinuclear antibodies (ANA) is one of the key features of SS, which shows a nuclear fine speckled (AC-4) pattern in an indirect immunofluorescent antibody test (IIFT). About 70% of ANA-positive SS patients have detectable anti-SS-A and/or SS-B antibodies, which indicates that other autoantibodies may present in SS patients. The anti-HMGB1 antibodies in 93 SS patients and 96 healthy controls were investigated with in-house developed ELISA and immunoblotting, and the locations of HMGB1 and fluorescent pattern of anti-HMGB1 antibody were investigated with IIFT. The contribution of anti-HMGB1 antibody in ANA-IF was evaluated with Cas9-induce HMGB1 knockout B16 cells. The anti-HMGB1 antibody level is higher in SS patients (9.96 ± 5.55 RU/ml) than in healthy controls (4.9 ± 1.4 RU/ml). With ROC curve analysis, when taking 8 RU/ml as the cutoff value, the sensitivity, specificity, and the area under the curve were 64.5%, 96.9%, and 0.83, respectively. A total of 18 patients (20.7%) with nuclear fine speckled (AC-4) pattern in ANA-IF test were anti-HMGB1 antibody positive only. With commercial antibody, anti-HMGB1 antibody showed the same nuclear fine speckled (AC-4) pattern. The serum from ANA-IF (+), SS-A (−), and SS-B (−) SS patients showed nuclear fine speckled (AC-4) pattern in wildtype B16 cells, but no fluorescence in HMGB1 knockout B16 cells. Anti-HMGB1 antibody may be one of the characteristic autoantibodies of SS in addition to anti-SS-A and SS-B. The detection of anti-HMGB1 antibody can provide more laboratory evidence for clinical diagnosis of SS.

No Difference in Survival Among Black Patients with Mycosis Fungoides and Sézary Syndrome: A Multicenter Retrospective Analysis

No Difference in Survival Among Black Patients with Mycosis Fungoides and Sézary Syndrome: A Multicenter Retrospective Analysis

Sneddon Syndrome: Case Report and Literature Review

Abstract Sneddon syndrome (SS) is a rare disorder that has a variety of pathologic associations, often described as the first cutaneous manifestation of antiphospholipid syndrome. Sneddon syndrome is characterized by livedo racemosa (LR), cerebrovascular symptoms, and microangiopathic disease in the deep vessels on skin biopsy. We discuss a case of a 55-year-old woman with a complex history of arterio-occlusive disease who presented with a violaceous and painful rash on her thigh. Skin biopsy showed thrombotic vasculopathy. Her clinical and cutaneous manifestations led to the question and the diagnosis of SS. Our case is one of the few cases of SS where LR occurred long after cerebrovascular disease. We discuss the range of skin biopsy findings of LR and approach to SS from a dermatopathologic perspective.

Bio-O1-01 - Diagnostic performance of high throughput sequencing of the T-cell receptor beta gene for the diagnosis of cutaneous T-cell lymphoma

Bio-O1-01 - Diagnostic performance of high throughput sequencing of the T-cell receptor beta gene for the diagnosis of cutaneous T-cell lymphoma

Manifestation of Susac syndrome during interferon beta-1a and glatiramer acetate treatment for misdiagnosed multiple sclerosis: a case report

BackgroundSusac syndrome (SS) is characterized by the triad of encephalopathy, branch retinal artery occlusion, and sensorineural hearing loss. However, the diagnosis of SS remains difficult because the clinical triad rarely occurs at disease onset, and symptom severity varies. SS symptoms often suggest other diseases, in particular multiple sclerosis (MS), which is more common. Misdiagnosing SS as MS may cause serious complications because MS drugs, such as interferon beta-1a, can worsen the course of SS. This case report confirms previous reports that the use of interferon beta-1a in the course of misdiagnosed MS may lead to exacerbation of SS. Moreover, our case report shows that glatiramer acetate may also exacerbate the course of SS. To the best of our knowledge, this is the first reported case of exacerbation of SS by glatiramer acetate.Case presentationWe present a case report of a patient with a primary diagnosis of MS who developed symptoms of SS during interferon beta-1a treatment for MS; these symptoms were resolved after the discontinuation of the treatment. Upon initiation of glatiramer acetate treatment, the patient developed the full clinical triad of SS. The diagnosis of MS was excluded, and glatiramer acetate therapy was discontinued. The patient’s neurological state improved only after the use of a combination of corticosteroids, intravenous immunoglobulins, and azathioprine.ConclusionsThe coincidence of SS signs and symptoms with treatment for MS, first with interferon beta-1a and then with glatiramer acetate, suggests that these drugs may influence the course of SS. This case report indicates that treatment with glatiramer acetate may modulate or even exacerbate the course of SS.

The diagnostic value of skin biopsies in Sneddon syndrome.

BackgroundSneddon syndrome (SS) is defined by widespread livedo reticularis (LR) and stroke. There is no single diagnostic test for SS and diagnosis can be solely based on clinical features. This cross-sectional case-control study aimed to determine the diagnostic value of skin biopsies in SS patients.Materials and methodsWe studied skin biopsies from patients with a clinical diagnosis of SS or isolated LR. We also studied controls with vitiligo or normal skin. Biopsies were considered standardized if 3 biopsies were taken from the white centre of the livedo and reached until the dermis-subcutis border. Biopsies were scored for features of an occlusive microangiopathy without knowledge of the clinical features. Sensitivity and specificity of the biopsy findings were calculated with the clinical criteria as the reference standard.ResultsWe included 34 SS patients, 14 isolated LR patients and 41 control patients. Biopsies of 17 patients with SS (50%), 4 with isolated LR (31%) and 10 control patients (24%) showed at least one artery in the deep dermis with a thickened vessel wall combined with recanalization or neovascularization (sensitivity 50% and specificity 69% with LR as reference). Standardized biopsies increased the sensitivity to 70%. In a post hoc analysis the combination of an occlusive microangiopathy and the presence of a livedo pattern in the superficial dermis increased the specificity to 92%.ConclusionsStandardized skin biopsies can support the clinical diagnosis of SS. An occlusive microangiopathy as the only positive criterion for the diagnosis of SS had insufficient specificity for a definite diagnosis.

Prevalence of Stronglyoides Stercoralis and Elevated Immunoglobulin E in Patients with Eosinophilia in a New York City Physician's Practice

Background The most common etiology of eosinophilia (EOA) in the United States is allergic disease. Steroid therapy may be advised. Strongyloides stercoralis (Ss) infection is also associated with EOA. Steroids can precipitate Ss hyperinfection syndrome with multi-organ failure. Therefore, Ss should be identified and treated in EOA prior to initiating steroids. Ss is common in the tropics and in the subtropics. While the prevalence of Ss in the U.S. is low (0-6.1%), it is higher in immigrant populations (0-46.1%) (CDC 2014).AIM To determine the prevalence of Ss and elevated immunoglobulin E (IgE) in patients with EOA in a New York City physician's practice with a large Dominican Republic constituent.Methods The ICD10 code D72.1 was used to identify patients with EOA (absolute eosinophil count > 500/uL) seen in the physician's practice between 10/01/15 (inception of ICD10) and 06/30/17. Chart review indicated that the majority of patients had been screened for Ss antibody, fecal ova and parasites (O&P), and elevated IgE (> 114 kU/L).Results Twenty-nine patients had EOA. Thirteen (46%) of 28 patients tested had Ss antibody, 4 (22%) of 18 patients tested had O&P (Blastocystis hominis [Bh]), and 18 (72%) of 25 patients tested had elevated IgE. Ten patients had both Ss antibody and elevated IgE. Ten patients with Ss antibody also had O&P testing, which did not detect Ss. Twelve patients with Ss received ivermectin (1 declined) and all 4 patients with Bh received metronidazole. AEC normalized following treatment in all 9 Ss patients (3 were lost to follow-up) and in all 4 Bh patients restudied.Discussion The high prevalence of elevated IgE in this cohort is consistent with allergic disease being a common etiology of EOA. The high prevalence of Ss in this cohort underscores the importance of testing for Ss in EOA, particularly in immigrant populations. During acute Ss infections, stool larval output is large and O&P yield is high. During chronic Ss infections, immune response and EOA decrease larval production, which diminishes O&P yield; Ss serology should be performed. Diagnosis and treatment of Ss in EOA is essential to avoid clinical deterioration, particularly in patients who may receive steroids. DisclosuresNo relevant conflicts of interest to declare.

Chronic serotonin syndrome: A retrospective study.

BACKGROUNDSerotonin syndrome (SS) is an underdiagnosed drug-induced clinical syndrome resulting from the excess intrasynaptic concentration of serotonin. Very limited information is available about chronic SS.AIMTo evaluate the epidemiological, clinical, and other aspects of the insidious onset SS.METHODSWe retrospectively evaluated 14 consecutive adult patients (> 18 years) who had complaints for more than 6 wk at the time of consultation and met the Hunter criteria for SS.RESULTSThe mean age was 41.1 years (range: 21-61 years), with a male preponderance (64%). Although tremors were observed in all patients, this was a presenting complaint in only 43% of patients. Generalized body pain, insomnia, and restlessness were common presenting features (50% each). Other common clinical features were stiffness of the limbs (43%), diaphoresis (43%), gait disturbances (36%), bowel disturbances (36%), dizziness (29%), sexual dysfunctions (21%), incoordination (14%), and fatigue (14%) The mean duration of symptoms before the diagnosis of SS was 13.5 ± 5.8 wk (range: 6-24 wk). Amitriptyline was the most common drug (n = 6, 43%), followed by tramadol (n = 5, 36%) and sodium valproate (n = 5, 36%). All patients received cyproheptadine, a 5- hydroxytryptamine2A antagonist, as treatment and noted an excellent response over the course of 4-14 d.CONCLUSIONThis study represents the largest study on chronic SS. We suggest that patients receiving serotonergic drugs should be physically examined for the presence of SS upon the development of new symptoms.

A distinguishing profile of chemokines, cytokines and biomarkers in the saliva of children with Sjögren's syndrome.

ObjectiveSS is an autoimmune disease most commonly diagnosed in adults but can occur in children. Our objective was to assess the presence of chemokines, cytokines and biomarkers (CCBMs) in saliva from these children that were associated with lymphocyte and mononuclear cell functions.MethodsSaliva was collected from 11 children diagnosed with SS prior to age 18 years and 16 normal healthy children. A total of 105 CCBMs were detected in multiplex microparticle-based immunoassays. ANOVA and t test (0.05 level) were used to detect differences. Ingenuity Pathway Analysis (IPA) was used to assess whether elevated CCBMs were in annotations associated with immune system diseases and select leukocyte activities and functions. Machine learning methods were used to evaluate the predictive power of these CCBMs for SS and were measured by receiver operating characteristic (ROC) curve and area under curve (AUC).ResultsOf the 105 CCBMs detected, 43 (40.9%) differed in children with SS from those in healthy study controls (P < 0.05) and could differentiate the two groups (P < 0.05). Elevated CCBMs in IPA annotations were associated with autoimmune diseases and with leukocyte chemotaxis, migration, proliferation, and regulation of T cell activation. The best AUC value in ROC analysis was 0.93, indicating that there are small numbers of CCBMs that may be useful for diagnosis of SS.ConclusionWhile 35 of these 43 CCBMs have been previously reported in SS, 8 CCBMs had not. Additional studies focusing on these CCBMs may provide further insight into disease pathogenesis and may contribute to diagnosis of SS in children.

Childhood-onset of primary Sjögren's syndrome: phenotypic characterization at diagnosis of 158 children.

To characterize the phenotypic presentation at diagnosis of childhood-onset primary SS. The Big Data Sjögren Project Consortium is an international, multicentre registry using worldwide data-sharing cooperative merging of pre-existing clinical SS databases from the five continents. For this study, we selected those patients in whom the disease was diagnosed below the age of 19 years according to the fulfilment of the 2002/2016 classification criteria. Among the 12 083 patients included in the Sjögren Big Data Registry, 158 (1.3%) patients had a childhood-onset diagnosis (136 girls, mean age of 14.2 years): 126 (80%) reported dry mouth, 111 (70%) dry eyes, 52 (33%) parotid enlargement, 118/122 (97%) positive minor salivary gland biopsy and 60/64 (94%) abnormal salivary US study, 140/155 (90%) positive ANA, 138/156 (89%) anti-Ro/La antibodies and 86/142 (68%) positive RF. The systemic EULAR Sjögren's syndrome disease activity index (ESSDAI) domains containing the highest frequencies of active patients included the glandular (47%), articular (26%) and lymphadenopathy (25%) domains. Patients with childhood-onset primary SS showed the highest mean ESSDAI score and the highest frequencies of systemic disease in 5 (constitutional, lymphadenopathy, glandular, cutaneous and haematological) of the 12 ESSDAI domains, and the lowest frequencies in 4 (articular, pulmonary, peripheral nerve and CNS) in comparison with patients with adult-onset disease. Childhood-onset primary SS involves around 1% of patients with primary SS, with a clinical phenotype dominated by sicca features, parotid enlargement and systemic disease. Age at diagnosis plays a key role in modulating the phenotypic expression of the disease.

Hidradenitis supurativa. Descripción de los hallazgos ecográficos en un centro de referencia en Bogotá, Colombia

Introducción: el ultrasonido de alta resolucion de tejidos blandos es una herramienta util para la caracterización de los hallazgos de hidradenitis supurativa (HS). Se presenta una serie de 27 pacientes con diagnostico clinico de HS, en quienes se practico ultrasonido de alta resolucion. Objetivos: describir los hallazgos ecograficos mas frecuentes en pacientes con HS. Establecer el estadiaje de Hurley ecografico. Describir los hallazgos ecograficos no evidentes clinicamente de la enfermedad. Identificar la actividad inflamatoria de la HS mediante el uso del analisis Doppler. Métodos: es un estudio retrospectivo, descriptivo. Se realizo ecografia de alta resolucion por parte de una radióloga con experiencia en ecografia dermatologica. Se empleo un equipo TOSHIBA XARIO 200 con transductor lineal de alta resolucion de 18 a 22 MHz. El registro se llevo a en un reporte unificado creado para el estudio tomando como base el reporte sugerido por el grupo DERMUS, del cual la investigadora forma parte y ayudo a desarrollar. Para el analisis estadistico se emplearon medidas de tendencia central, descripcion de frecuencias y cruce de variables. Resultados: la edad promedio fue de 44,7 anos. El 74,1% de los pacientes fue mujeres. La zona corporal mas afectada fue las axilas (55,5%). El hallazgo ecografico mas comun fue la presencia de fistulas. Se encontro aumento de la vascularizacion al analisis Doppler en el 80% de las fistulas, lo que indica actividad inflamatoria. El estadio I de Hurley se encontro en el 37,04%. Conclusión: la ecografia evidencio fistulas ocultas en el 29,6% de los pacientes, que llevaron a modificar el estadiaje clinico de la enfermedad. La ecografia es un metodo importante para el correcto abordaje de los pacientes con HS.