Background:The neurodevelopmental hypothesis of schizophrenia sets the importance of genetic and environmental factors, such as vitamin D deficiency, in an early critical phase of brain development, causing a disturbance that may affect the individual's health as a young adult when other events take place during the maturation of the brain. Methods and Findings:Pubmed database was used to search the 57 articles included in this review. Individuals born in winter and early spring months, living at higher latitudes or in urban areas and migrating to colder climates, thus with less vitamin D levels, have increased risk of schizophrenia, while individuals with more uptake of vitamin D have lesser risk. Several epidemiologic studies have already shown an association between maternal vitamin D deficiency and increased risk of schizophrenia in the offspring. Animal developmental vitamin D deficient models suggest a possible dopaminergic dysfunction but there might be other mechanisms involved, such as a disruption in glutamatergic transmission. Therefore, adequate VD supplementation during critical phases of life, including pregnancy, may be relevant, since pregnant females are a risk group for vitamin D deficiency. Conclusions:Epidemiologic studies and animal models suggest a role of low maternal levels of vitamin D in the pathophysiology of schizophrenia. More well-designed prospective studies are needed to strengthen the association, as well as clinical trials to evaluate the impact of vitamin D supplementation.
ObjectivesIdiopathic inflammatory myopathies (IIM) are a group of rare disorders that can affect the heart. This work aimed to find predictors of cardiac involvement in IIM.MethodsMulticenter, open cohort study, including patients registered in the IIM module of the Rheumatic Diseases Portuguese Register (Reuma.pt/Myositis) until January 2022. Patients without cardiac involvement information were excluded. Myo(peri)carditis, dilated cardiomyopathy, conduction abnormalities, and/or premature coronary artery disease were considered.Results230 patients were included, 163 (70.9%) of whom were females. Thirteen patients (5.7%) had cardiac involvement. Compared with IIM patients without cardiac involvement, these patients had a lower bilateral manual muscle testing score (MMT) at the peak of muscle weakness [108.0 ± 55.0 vs 147.5 ± 22.0, p=0.008] and more frequently had oesophageal [6/12 (50.0%) vs 33/207 (15.9%), p=0.009] and lung [10/13 (76.9%) vs 68/216 (31.5%), p=0.001] involvements. Anti-SRP antibodies were more commonly identified in patients with cardiac involvement [3/11 (27.3%) vs 9/174 (5.2%), p=0.026]. In the multivariate analysis, positivity for anti-SRP antibodies (OR 104.3, 95% CI: 2.5-4277.8, p=0.014) was a predictor of cardiac involvement, regardless of sex, ethnicity, age at diagnosis, and lung involvement. Sensitivity analysis confirmed these results.ConclusionAnti-SRP antibodies were predictors of cardiac involvement in our cohort of IIM patients, irrespective of demographical characteristics and lung involvement. We suggest considering frequent screening for heart involvement in anti-SRP-positive IIM patients.
Background:Antisynthetase syndrome (ASyS) may have different clinical phenotypes and outcomes associated with different anti-aminoacyl RNA-synthetase (anti-ARS) antibodies. Its wide clinical spectrum can include inflammatory myopathy, interstitial lung disease (ILD), arthritis, fever, mechanic’s hands, and Raynaud phenomenon (RP).Objectives:To describe a nationwide, multicentre cohort of Portuguese patients with ASyS.Methods:Retrospective analysis of patients with ASyS from nine Portuguese Rheumatology centers. Data on patients’ signs and symptoms, laboratory results, pulmonary radiological findings (computed tomography) and treatment (immunomodulators) were collected.Results:Among the 70 patients included, 42 patients (60%) were anti-Jo1–positive, 11 (15.7%) were anti-PL12–positive, 10 (14.3%) were anti-PL7–positive, 4 (5.7%) were anti-EJ–positive and 2 (2.9%) were anti-OJ positive. In one patient it was not possible to identify the type of antibody. Antibody overlap was found in 15 patients (21.4%), who were positive for anti-Ro52 antibodies. The general clinical characteristics are shown in Table 1. The diagnostic delay was greater in patients positive for anti-OJ, followed by anti-Jo-1 and anti-PL12. The follow-up was shorter for anti-PL7 and anti-OJ-positive patients. Anti-PL7-positive patients had lower rates of arthritis when compared to anti-Jo1 (p< 0.01). When compared with anti-Jo-1 ARS, myositis was less common in anti-PL12 (p < 0.01). ILD prevalence was similar in the different ARS subgroups. Glucocorticoids (GCs) were the most frequently used class of drugs. A more conservative treatment plan (e.g. GCs plus methotrexate or azathioprine) was the treatment of choice in ASyS with myositis and/or arthritis involvement. Rituximab or mycophenolate mofetil were preferred when lung involvement occurred. Only two deaths were reported, being one associated with lung neoplasia.Conclusion:This is the first study investigating the clinical phenotypes of Portuguese patients with ASyS. These results are generally concordant with data retrieved from international cohorts.References:[1]Mahler M, Miller FW, Fritzler MJ. Idiopathic inflammatory myopathies and the anti-synthetase syndrome: a comprehensive review. Autoimmun Rev 2014;13:367–71.Table 1.Patient characteristics according to the anti-ARS. ILD - interstitial lung disease; IQR- interquartile range; NSIP - Non-specific interstitial pneumonia; UIP - Usual interstitial pneumonia; yrs - yearsVariablesOverall, n=70Jo-1, n=42(60%)PL-12, n=11 (15.7%)PL-7, n=10 (14.3%)EJ, n=4 (5.7%)OJ, n=2 (2.9%)Mean age at onset, yrs52 ± 1546.6 ± 14.455.2 ± 14.756.5±12.556.3±11.273.5±2.1Female, n (%)49 (70)29 (69)9 (81.8)7 (70)2 (50)2 (100)Median age in years at disease onset (IQR)52 (15-75)48 (15-70)59 (20-70)62 (39-73)60 (40-65)73.5 (72-75)Median follow-up time in yrs (IQR)3 (0-32)5 (0-32)3 (0-13)1 (1-4)4 (2-21)1 (0-2)Median diagnostic delay in yrs (IQR)6 (1-33)7 (1-33)7 (2-19)4 (1-23)1.5 (1-2)12.5 (2-21)Myositis, n (%) and Comparison Anti-Jo.1 ARS vs PL-12 and PL-736 (51.4)25 (59.5)3 (27.3)*p < 0.014 (40)p=0.73 (75)-0-ILD, n (%) and Comparison Anti-Jo.1 ARS vs PL-12 and PL-753 (75.7)33 (78.6)8 (72.7)p = 0.986 (60) p=0.564 (100)-1 (50)- ILD pattern - NSIP, n (%)30 (56.6)18 (54.5)6 (75)3 (50)1 (25)0 ILD pattern - UIP, n (%)6 (11.3)3 (9.1)1 (12.5)1 (16.7)1 (25)0 ILD pattern - other specific pattern, n (%)6 (11.3)4 (12.1)02 (33.3)1 (25)0 ILD pattern - non-specific pattern, n (%)11 (15.7)8 (24.2)1 (12.5)01 (25)1 (100)Mechanic’s hands (%), n (%)23 (32.9)14 (33.3)3 (27.3)2 (20)01 (50)General impairment, n (%)18 (25.7)11 (26.2)3 (27.3)2 (20)2 (50)0Fever, n (%)7 (10)4 (9.5)2 (20.2)01 (25)0Raynaud phenomenon, n (%)22 (31.4)11 (26.2)7 (63.6)02 (50)0Arthritis, n (%) and Comparison Anti-Jo.1 ARS vs PL-12 and PL-743 (61.4)29 (69)5 (45.4)p=0.072 (20)*p < 0.012 (50)-1 (50)-Malignancy, n (%)4 (5.7)3 (7.1)1 (9.1)000Deaths, n (%)2 (2.9)2 (2.4)0001 (50)Disclosure of Interests:None declared
Background:Systemic sclerosis (SSc) may present distinctive manifestations and survival in different ethnic and geographic groups.Objectives:To describe the clinical features, treatments, and survival of adult SSc patients registered in Reuma.pt/SSc.Methods:Demographic features, SSc subsets, fulfilment of classification criteria, clinical and immunologic characteristics, comorbidities, medication and deaths were reviewed. Survival was calculated for patients included in the registry within the first 2 years of diagnosis.Results:In total, 1054 patients were included, 87.5% female, mean age at diagnosis 52.7 ± 14.8 years. The most common subset was limited cutaneous (lc)SSc (56.3%), followed by diffuse cutaneous (dc)SSc (17.5%), preclinical SSc (13%), overlap syndrome (9.8%) and SSc sine scleroderma (3.3%). Raynaud’s phenomenon (93.4%) and skin thickening (76.9%) were the most observed manifestations. Gastrointestinal (62.8% vs 47.8%), pulmonary (59.5% vs 23%) and cardiac (12.8% vs 6.9%) involvement were significantly more prevalent in dcSSc compared to lcSSc (Table 1). 52.5% of patients were ACA positive and 21% anti-topoisomerase positive, with significant differences between lcSSc and dcSSc. One third of patients was treated with immunomodulators, 53.6% with vasodilators, 23% received glucocorticoids and 2.3% biologics.During the median follow-up 12.4 years, 83 deaths (7.9%) were verified. The overall 1, 2 and 5 years survival was 98.0%, 96.8% and 92.6% respectively, without significant differences between lcSSc and dcSSc (Figure 1).Conclusion:Reuma.pt/SSc register is useful in routine patient monitoring and contributes to improve knowledge about this rare and complex disease. Clinical features of Portuguese SSc patients are similar to what has been described in other populations although the overall 5-year survival in recently diagnosed patients appears to be higher than previously reported.Table 1.Cumulative clinical and immunologic characteristics of Portuguese SSc patientsClinical and immunologic featuresTotalN=1054Limited cutaneous SScN= 576 (56.3%)Diffuse cutaneous SScN=180 (17.5%)P valueSkin involvement – N(%) N=987688 (90.6)525 (90.7)180 (100)<0.01Skin thickening * – N (%) N= 962680 (76.9)512 (88.9)180 (100)<0.01Digital ulcers – N (%) N=970325(33.5)186 (34.7)4 (51.5)<0.01Raynaud’s Phenomenon – N (%) N=1010943 (93.4)539 (95.7)157 (92.4)0.06Musculoskeletal involvement – N(%) N=972346 (45.6)247 (42.7)99 (55)<0.01Cardiac involvement –N(%) – N=92471 (7.7)36 (6.9)19 (12.8)0.02Renal involvement –N(%) – N= 91717 (1.9)8!1.5)6 (4.1)0.07Gastrointestinal involvement - N(%) N=933508 (48.2)277 (47.8)113 (62.8)<0.01Pulmonary involvement – N(%) N=915261 (28.5)119 (23)88 (59.5)<0.01PAH – N(%) N= 87114 (1.6)10 (2)1 (0.7)0.23Intersticial lung disease – N(%) N=765218 (28.5)100 (22.7)75 (57.7)<0.01Antinuclear antibodies - N(%) N=1040934 (89.8)522 (90.2)154 (88.5)0.57Anti-centromere – N(%) N= 1027540 (52.6)383 (67.1)16 (9.5)<0.01Anti-Scl70 – N(%) N=1020214 (21)12 (3.3)104 (60.1)<0.01Anti-RNA polymerase III – N(%) N=71025 (3.5)12 (3.3)7 (5.6)0.38ComorbiditiesHypertension – N(%) N=431117 (27.1)76 (29.7)67 (20.7)0.1Hyperlipidemia – N(%) N=43171 (13.4)72 (12.2)24 (15.9)0.08Neoplasia – N(%) N=105429 (2.8)12 (2.1)7 (3.9)0.14PDE-5 (phosdiasterase-5); PPIs (proton pump inhibitors); PAH-Pulmonary arterial hypertension confirmed by right heart catheterization. Immunomodulators includes Metothrexate, Leflunomide, Hydroxycloroquine; Azathioprine, Mycophenolate Mofetil and Cyclophosphamide; * Does not include sclerodactyly.Figure 1.Panel A - Survival in years from diagnosis of patients with SSc included in Reuma.pt in the first 2 years of disease (N=472). Panel B - survival according to SSc subset (lcSSc and dcSSC).Disclosure of Interests:None declared
Background:Systemic Sclerosis (SSc) is a chronic disease with multi-organ manifestations that may contribute to disability and low quality of life.1 Therefore, anxiety and depression are more frequent in SSc patients than in general population.2Objectives:To assess the prevalence of anxiety and depression in a SSc cohort and to evaluate its correlation with function, quality of life and assessment of gastrointestinal (GI) involvement scores.Methods:A cross-sectional study was conducted evaluating a cohort of SSc patients. All patients answered to the Hospital Anxiety and Depression Scale (HADS) questionnaire. A cut-off score < 8 was considered normal. Health Assessment Questionnaire (HAQ), Scleroderma HAQ (SHAQ), 36-Item Short Form Health Survey (SF-36), EuroQol-5D (EQ-5D) and University Of California, Los Angeles, Scleroderma Clinical Trials Consortium Gastrointestinal Scale (UCLA SCTC GIT) 2.0 questionnaires were also obtained. Clinical data was obtained and analyzed.Results:We included 20 patients, 17 females [n = 17 (85%)], median (min, max) age was 52.5 (28, 75) years-old. Regarding disease classification, 13 (65%) had limited SSc, 4 (20%) had diffuse SSc and 3 (15%) had early SSc. A score ≥ 8 was found in 14 (70%) patients on HADS-A [median (min, max) = 9 (2, 19)] and in 12 (60%) patients on HADS-D [median (min, max) = 8 (1, 15)]. Depressive patients had significantly worst scores on the measures of function, such as HAQ and lung and gastrointestinal involvements and patient global assessment of SHAQ, of quality of life, such as EQ-5D and physical functioning, role physical, bodily pain, vitality, social functioning and mental health domains of SF-36, and on the UCLA SCTC GIT 2.0 scale. Anxious patients had significantly worst scores on social functioning and mental health domains of SF-36 and on the UCLA SCTC GIT 2.0 scale (Table 1).Conclusion:The prevalence of depression and anxiety on SSc patients is high and should not be neglected. Overall disability and multiorgan manifestations, particularly GI involvement, may contribute to a low quality of life and consequently to depression and anxiety.References:[1]Firestein & Kelley’s Textbook of Rheumatology 2-Volume Set, 11th Edition[2]Brett D. Thombs et al. Depression in Patients With Systemic Sclerosis: A Systematic Review of the Evidence. Arthritis & Rheumatism (Arthritis Care & Research) Vol. 57, 2007, pp 1089–1097Table 1.Function, quality of life and gastrointestinal (GI) involvement assessment according to HADS score.Results, median [min, max]HADS-D ≥ 8 (n = 12)HADS-D < 8 (n = 8)P-valueHADS-A ≥ 8 (n = 14)HADS-A < 8 (n = 6)P-valueSHAQ- GI involvement26.5 [0, 90]2 [0, 40]0.00918.5 [0, 90]2.5 [0, 40]0.091- Lung involvement48.5 [5, 90]2.5 [0, 30]0.00118 [0, 90]3 [0, 65]0.126- Patient global assessment67.5 [30, 100]4 [0, 85]0.01153.5 [2, 100]41.5 [0, 85]0.509HAQ1.375 [0.5, 2]0.1875 [0, 1]0.0011.25 [0, 2]0.875 [0, 1.125]0.147EQ5D0.3667 [-0.0573, 0.6937]0.6752 [0.2870, 1]0.0060.4640 [-0.0573, 0.7667]0.6752 [0.287, 1]0.075SF36- Physical functioning25 [15, 75]75 [50, 100]0.00140 [15, 100]72.5 [25, 85]0.106- Role physical31.25 [0, 75]72.875 [31.25, 100]0.02537.5 [0, 100]65.625 [31.25, 100]0.214- Bodily pain41 [0, 74]68 [20, 88]0.01141 [0, 88]61.5 [20, 74]0.428- Vitality25 [0, 43.75]65.625 [25, 75]0.00137.5 [0, 75]65.625 [12.5, 75]0.135- Social functioning37.5 [12.5, 87.5]87.5 [50, 100]0.00250 [12.5, 100]87.5 [87.5, 100]0.003- Mental health45 [25, 80]65.7 [51.4, 85]0.01245 [25, 75]77.5 [51.4, 85]0.005UCLA SCTC GIT 2.0- Reflux0.38 [0, 1.25]0 [0, 1.25]0.0240.25 [0, 1.25]0 [0, 1]0.139- Distension1 [0.5, 2]0.25 [0, 1.5]0.0171 [0.25, 2]0.125 [0, 1]0.024- Total0.44[0.1, 0.99]0.04 [0, 0.97]0.0100.34 [0.04, 0.99]0.02 [0, 0.44]0.018Disclosure of Interests:None declared
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