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1.
Presse Med ; 49(2): 103909, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32563946

RESUMO

Interstitial lung disease (ILD) in children (chILD) is a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and the diseases share common features of inflammatory and fibrotic changes of the lung parenchyma that impair gas exchanges. The etiologies of chILD are numerous. In this review, we chose to classify them as ILD related to exposure/environment insults, ILD related to systemic and immunological diseases, ILD related to primary lung parenchyma dysfunctions and ILD specific to infancy. A growing part of the etiologic spectrum of chILD is being attributed to molecular defects. Currently, the main genetic mutations associated with chILD are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3 and NKX2-1. Other genetic contributors include mutations in MARS, CSF2RA and CSF2RB in pulmonary alveolar proteinosis, and mutations in TMEM173 and COPA in specific auto-inflammatory forms of chILD. However, only few genotype-phenotype correlations could be identified so far. Herein, information is provided about the clinical presentation and the diagnosis approach of chILD. Despite improvements in patient management, the therapeutic strategies are still relying mostly on corticosteroids although specific therapies are emerging. Larger longitudinal cohorts of patients are being gathered through ongoing international collaborations to improve disease knowledge and targeted therapies. Thus, it is expected that children with ILD will be able to reach the adulthood transition in a better condition.


Assuntos
Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/etiologia , Fatores Etários , Criança , Doença Crônica , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Exposição Ambiental/efeitos adversos , Interação Gene-Ambiente , Genótipo , Humanos , Doenças do Sistema Imunitário/complicações , Lactente , Recém-Nascido , Doenças Pulmonares Intersticiais/classificação , Doenças Pulmonares Intersticiais/tratamento farmacológico , Fenótipo , Proteinose Alveolar Pulmonar/genética , Transtornos Respiratórios/complicações , Sistema Respiratório/patologia , Esteroides/uso terapêutico
2.
Presse Med ; 49(2): 104021, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32437843

RESUMO

Interstitial lung diseases encompass a broad range of numerous individual conditions, some of them characterized histologically by fibrosis, especially idiopathic pulmonary fibrosis, nonspecific interstitial pneumonia, chronic hypersensitivity pneumonia, interstitial lung disease associated with connective tissue diseases, and unclassifiable interstitial lung disease. The diagnostic approach relies mainly on the clinical evaluation, especially assessment of the patient's demographics, history, smoking habits, occupational or domestic exposures, use of drugs, and on interpretation of high-quality HRCT of the chest. Imaging is key to the initial diagnostic approach, and often can confirm a definite diagnosis, particularly a diagnosis of idiopathic pulmonary fibrosis when showing a pattern of usual interstitial pneumonia in the appropriate context. In other cases, chest HRCT may orientate toward an alternative diagnosis and appropriate investigations to confirm the suspected diagnosis. Autoimmune serology helps diagnosing connective disease. Indications for bronchoalveolar lavage and for lung biopsy progressively become more restrictive, with better considerations for their discriminate value, of the potential risk associated with the procedure, and of the anticipated impact on management. Innovative techniques and genetics are beginning to contribute to diagnosing interstitial lung disease and to be implemented routinely in the clinic. Multidisciplinary discussion, enabling interaction between pulmonologists, chest radiologists, pathologists and often other healthcare providers, allows integration of all information available. It increases the accuracy of diagnosis and prognosis prediction, proposes a first-choice diagnosis, may suggest additional investigations, and often informs the management. The concept of working diagnosis, which can be revised upon additional information being made available especially longitudinal disease behaviour, helps dealing with diagnostic uncertainty inherent to interstitial lung diseases and facilitates management decisions. Above all, the clinical approach and how thoroughly the patient's history and possible exposures are assessed determine the possibility of an accurate diagnosis.


Assuntos
Doenças Pulmonares Intersticiais/diagnóstico , Alveolite Alérgica Extrínseca/diagnóstico , Doenças Autoimunes/diagnóstico , Biópsia , Lavagem Broncoalveolar , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Humanos , Fibrose Pulmonar Idiopática/diagnóstico , Pulmão/patologia , Doenças Pulmonares Intersticiais/etiologia , Doenças Pulmonares Intersticiais/patologia , Exame Físico , Fibrose Pulmonar/diagnóstico , Radiografia Torácica , Testes de Função Respiratória , Tomografia Computadorizada por Raios X
4.
Zhonghua Jie He He Hu Xi Za Zhi ; 43(4): 362-368, 2020 Apr 12.
Artigo em Chinês | MEDLINE | ID: mdl-32294819

RESUMO

Objective: To investigate the clinical features and prognosis of interstitial lung disease patients with positive anti-neutrophil cytoplasmic antibody. Methods: The patients with interstitial lung disease who visited Peking Union Medical College Hospital from March 2006 to March 2016 were divided into three groups: interstitial lung disease with ANCA-positive(ANCA-ILD), connective tissue disease associated interstitial lung disease and interstitial pneumonia with autoimmune features (CTD-ILD/IPAF) and idiopathic interstitial pneumonia (IIP). The three groups were analyzed in terms of clinical manifestations, serology, lung function, imaging, survival and recurrence. Results: Two hundred and seventy four patients were enrolled and 38 (14%) were ANCA-positive of whom 16 were male and 22 were female. The age of 38 ANCA-positive patients was (59±10) years and the follow-up time was (52±31) months. Seven among the 38 ANCA-positive patients died and the death rate is 18.42%. The ANCA-positive patients with interstitial lung disease have higher onset age (ANCA-ILD:59±10,CTD-ILD/IPAF:52±10,IIP:53±11,H=19.29, P<0.001), lower hemoglobin (ANCA-ILD: 129±21, CTD-ILD/IPAF: 138±15, IIP: 140±19, H=8.17, P=0.017), higher erythrocyte sedimentation rate (ANCA-ILD:45±35, CTD-ILD/IPAF:26±24,IIP:19±22,H=19.73, P<0.001), lower lung function improvement rate after treatment (ANCA-ILD:31%,CTD-ILD/IPAF:59%,IIP: 39%,χ(2)=11.74,P=0.003), lower absorption rate of CT lesion (ANCA-ILD:61%,CTD-ILD/IPAF:82%,IIP:67%, χ(2)=9.23,P=0.010) and higher death rate(ANCA-ILD:18%,CTD-ILD/IPAF:6%,IIP:12%, χ(2)=7.16,P=0.028). Conclusions: There are significant differences in clinical characteristics between ANCA-positive patients and other types of pulmonary interstitial disease. And both the treatment effect and the prognosis is poor for the ANCA-positive patients.


Assuntos
Anticorpos Anticitoplasma de Neutrófilos/sangue , Doenças do Tecido Conjuntivo/diagnóstico , Pneumonias Intersticiais Idiopáticas/diagnóstico , Doenças Pulmonares Intersticiais/diagnóstico , Biomarcadores/sangue , Doenças do Tecido Conjuntivo/sangue , Doenças do Tecido Conjuntivo/imunologia , Doenças do Tecido Conjuntivo/mortalidade , Feminino , Humanos , Pneumonias Intersticiais Idiopáticas/sangue , Pneumonias Intersticiais Idiopáticas/imunologia , Pneumonias Intersticiais Idiopáticas/mortalidade , Pulmão/diagnóstico por imagem , Doenças Pulmonares Intersticiais/sangue , Doenças Pulmonares Intersticiais/imunologia , Doenças Pulmonares Intersticiais/mortalidade , Masculino , Prognóstico , Tomografia Computadorizada por Raios X
5.
Ann Rheum Dis ; 79(5): 626-634, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32161055

RESUMO

OBJECTIVES: To evaluate initial combination therapy with ambrisentan plus tadalafil (COMB) compared with monotherapy of either agent (MONO), and the utility of baseline characteristics and risk stratification in predicting outcomes, in patients with connective tissue disease-associated pulmonary arterial hypertension (CTD-PAH) and the systemic sclerosis (SSc)-pulmonary arterial hypertension (PAH) subpopulation. METHODS: This post hoc analysis of the Ambrisentan and Tadalafil in Patients with Pulmonary Arterial Hypertension (AMBITION) study included patients with CTD-PAH from the modified intention-to-treat population. Time to clinical failure (TtCF) was assessed by baseline characteristics, treatment assignment and risk group (low, intermediate and high) at baseline and week 16. TtCF was compared between groups using Kaplan-Meier curves and Cox proportional hazards regression modelling. RESULTS: The analysis included 216 patients (COMB, n=117; MONO, n=99). The risk of clinical failure was lower with COMB versus MONO (risk reduction: CTD-PAH 51.7%, SSc-PAH 53.7%), particularly in patients with haemodynamic parameters characteristic of typical PAH without features of left heart disease and/or restrictive lung disease at baseline. The risk of clinical failure was lower with COMB versus MONO in the baseline low-risk group (HR not calculated due to no events in COMB), baseline intermediate-risk group (HR 0.519, 95% CI 0.297 to 0.905) and in the week 16 low-risk group (HR 0.069, 95% CI 0.009 to 0.548). CONCLUSIONS: The benefit of COMB over MONO was demonstrated in patients with CTD-PAH, particularly in those with typical PAH haemodynamic characteristics at baseline. COMB is appropriate for patients categorised as low risk and intermediate risk at baseline and low risk at follow-up. TRIAL REGISTRATION NUMBER: NCT01178073.


Assuntos
Fenilpropionatos/administração & dosagem , Hipertensão Arterial Pulmonar/tratamento farmacológico , Hipertensão Arterial Pulmonar/epidemiologia , Piridazinas/administração & dosagem , Escleroderma Sistêmico/tratamento farmacológico , Escleroderma Sistêmico/epidemiologia , Tadalafila/administração & dosagem , Adulto , Comorbidade , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/tratamento farmacológico , Doenças do Tecido Conjuntivo/epidemiologia , Relação Dose-Resposta a Droga , Método Duplo-Cego , Esquema de Medicação , Quimioterapia Combinada , Feminino , Seguimentos , Humanos , Análise de Intenção de Tratamento , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Hipertensão Arterial Pulmonar/diagnóstico , Medição de Risco , Escleroderma Sistêmico/diagnóstico , Resultado do Tratamento , Vasodilatadores/administração & dosagem
6.
Allergol. immunopatol ; 48(1): 18-25, ene.-feb. 2020. tab
Artigo em Inglês | IBECS | ID: ibc-186587

RESUMO

Introduction and objectives: Connective tissue diseases are inflammatory, autoimmune diseases and threaten quality of life. To determine the relationship between staining patterns of antinuclear antibodies and antibodies against extractable nuclear antigens in patients with connective tissue disease. Materials and methods: Observational, basic, analytical and transversal study. Study conducted in the Immunology Service of the Arzobispo Loayza National Hospital between January 2017 and June 2017. We analyzed 291 samples of patients with CTD and for the detection of anti-nuclear antibody staining patterns, the immunological kit and observation with microscope of at 40X Immunofluorescence and for the detection of the antibodies against extractable nuclear antigens. The Immunoblot method was employed. Statistical analyses were carried out with the statistical package SPSS version 21 for Windows. We used the Pearson Chi-square test for the categorical variables, a value of p < 0.05 was considered significant. Results: There was a significant relationship p < 0.05 of the homogeneous pattern, the mottled pattern with Anti-histones (p = 0.000), Anti-nucleosomes (p = 0.000), Anti-Ro 52 (p = 0.000), Anti-SSA (p = 0.001), Anti-SSB (p = 0.003), Anti-dsDNA (p = 0.000) with the Pearson Chi-square test. There was a significant relationship of p < 0.05 of the centromeric pattern with Anti-Cenp B (p = 0.000) with Fisher's exact statistic. Conclusions: There was a significant relationship between the anti-nuclear antibody staining patterns and the antibodies to the core extractable antigens in patients with systemic lupus erythematosus, Sjögren's syndrome, Calcinosis, Raynaud's phenomenon, esophageal Dysmotility, sclerodactyly and Telangiectasia (CREST), Scleroderma and Polymyositis


No disponible


Assuntos
Humanos , Anticorpos Antinucleares/análise , Anticorpos/análise , Antígenos Nucleares/imunologia , Doenças do Tecido Conjuntivo/imunologia , Autoimunidade/imunologia , DNA/análise , Doenças do Tecido Conjuntivo/diagnóstico , Estudos Transversais , Microscopia de Fluorescência , Técnica Indireta de Fluorescência para Anticorpo , Proteína Centromérica A , Autoanticorpos/imunologia
7.
Medicine (Baltimore) ; 99(4): e18589, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31977850

RESUMO

To date, there is no clear agreement regarding which is the best method to detect a connective tissue disease (CTD) during the initial diagnosis of interstitial lung diseases (ILD). The aim of our study was to explore the impact of a systematic diagnostic strategy to detect CTD-associated ILD (CTD-ILD) in clinical practice, and to clarify the significance of interstitial pneumonia with autoimmune features (IPAF) diagnosis in ILD patients.Consecutive patients evaluated in an ILD Diagnostic Program were divided in 3 groups: IPAF, CTD-ILD, and other ILD forms. Clinical characteristics, exhaustive serologic testing, high resolution computed tomography (HRCT) images, lung biopsy specimens, and follow-up were prospectively collected and analyzed.Among 139 patients with ILD, CTD was present in 21 (15.1%), 24 (17.3%) fulfilled IPAF criteria, and 94 (67.6%) were classified as other ILD forms. Specific systemic autoimmune symptoms such as Raynaud phenomenon (19%), inflammatory arthropathy (66.7%), and skin manifestations (38.1%) were more frequent in CTD-ILD patients than in the other groups (all P < .001). Among autoantibodies, antinuclear antibody was the most frequently found in IPAF (42%), and CTD-ILD (40%) (P = .04). Nonspecific interstitial pneumonia, detected by HRCT scan, was the most frequently seen pattern in patients with IPAF (63.5%), or CTD-ILD (57.1%) (P < .001). In multivariate analysis, a suggestive radiological pattern by HRCT scan (odds ratio [OR] 15.1, 95% confidence interval [CI] 4.7-48.3, P < .001) was the strongest independent predictor of CTD-ILD or IPAF, followed by the presence of clinical features (OR 14.6, 95% CI 4.3-49.5, P < .001), and serological features (OR 12.4, 95% CI 3.5-44.0, P < .001).This systematic diagnostic strategy was useful in discriminating an underlying CTD in patients with ILD. The defined criteria for IPAF are fulfilled by a considerable proportion of patients referred for ILD.


Assuntos
Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Doenças Pulmonares Intersticiais/complicações , Doenças Pulmonares Intersticiais/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Autoanticorpos/imunologia , Biópsia , Doenças do Tecido Conjuntivo/patologia , Ensaio de Imunoadsorção Enzimática , Feminino , Humanos , Doenças Pulmonares Intersticiais/patologia , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X
8.
Rev. chil. enferm. respir ; 35(4): 266-267, dic. 2019.
Artigo em Espanhol | LILACS | ID: biblio-1092704

RESUMO

Para el diagnóstico certero de fibrosis pulmonar idiopática (FPI) es de vital importancia la presencia de un patrón tomográfico definitivo de neumonía intersticial usual (NIU), en un contexto clínico adecuado. El interrogatorio dirigido, el uso de cuestionarios validados, una evaluación reumatológica acuciosa y exámenes complementarios son importantes para descartar causas secundarias de fibrosis pulmonar como neumonitis por hipersensibilidad (NHS), enfermedades del tejido conectivo (ETC), toxicidad por drogas y algunas neumoconiosis que pueden imitar el patrón radiológico y muchas veces dificultar un diagnóstico adecuado de FPI.


For the accurate diagnosis of idiopathic pulmonary fibrosis (IPF), the presence of a definitive tomographic pattern of usual interstitial pneumonia (UIP) is of vital importance, in an appropriate clinical context. Targeted interrogation, the use of valid questionnaires, an acute rheumatologic evaluation and complementary examinations are important to rule out secondary causes such as hypersensitivity pneumonitis (HP), connective tissue diseases (CTD), drug toxicity and some pneumoconiosis that can mimic the radiological pattern and often hinder a clear diagnosis of IPF.


Assuntos
Humanos , Fibrose Pulmonar Idiopática/diagnóstico , Pneumoconiose/diagnóstico , Doenças do Tecido Conjuntivo/diagnóstico , Diagnóstico Diferencial , Alveolite Alérgica Extrínseca/diagnóstico
9.
Rev. chil. enferm. respir ; 35(4): 278-281, dic. 2019. tab
Artigo em Espanhol | LILACS | ID: biblio-1092707

RESUMO

Las Enfermedades del Tejido Conectivo (ETC) comprenden un grupo heterogéneo de patologías multisistémicas de origen autoinmune. La Enfermedad pulmonar intersticial (EPI) asociada a ETC (EPI-ETC) es frecuente y empeora el pronóstico de la ETC. Las EPI-ETC representan aproximadamente 15-30% del total las EPI y se presentan con las mismas formas histopatológicas y radiológicas descritas para las EPI idiopáticas. Esto pone en evidencia la importancia de incorporar en forma rutinaria a reumatología en el comité multidisciplinario para el diagnóstico y manejo de las EPI.


Connective Tissue Diseases (CTD) comprise a heterogeneous group of multisystemic pathologies of autoimmune origin. Interstitial lung disease (ILD) associated with CTD (CTD-ILD) is common and and it worsens the prognosis of CTD. CTD-ILD represent approximately 15-30% of the universe of ILD and have the same histopathological and radiological forms described for idiopathic ILD. This highlights the importance of routinely incorporate a rheumatologist into the multidisciplinary committee for the diagnosis and management of ILD.


Assuntos
Humanos , Doenças Reumáticas/complicações , Doenças do Tecido Conjuntivo/complicações , Fibrose Pulmonar Idiopática/diagnóstico , Fibrose Pulmonar Idiopática/imunologia , Doenças Reumáticas/diagnóstico , Doenças do Tecido Conjuntivo/diagnóstico
10.
Zhonghua Yi Xue Za Zhi ; 99(40): 3172-3175, 2019 Oct 29.
Artigo em Chinês | MEDLINE | ID: mdl-31694110

RESUMO

Objective: To evaluate the diagnostic value of the serum Krebs von den Lungen-6 (KL-6) for the interstitial lung disease associated with connective tissue diseases (CTD-ILD). Methods: 84 patients with CTD-ILD (CTD-ILD group) and 91 patients with connective tissue disease (CTD group) who visited the department of rheumatology and immunology of People's Hospital of Xinjiang Uygur Autonomous Region between January, 2016 and December, 2017 were included. Serum KL-6 levels were measured by commercially available enzyme linked immunosorbent assay (ELISA) kits. Results: The significantly higher levels of KL-6 were determined in the CTD-ILD group than CTD group [1 239 (577, 2 094) vs 152 (89, 280) U/ml] (P<0.001). The optimal cutoff value of serum KL-6 for diagnosis of CTD-ILD was 402 U/ml, and the sensitivity and specificity were 82.1% and 86.8%, respectively. Area Under the Curve (AUC) was 0.905. Logistic regression analysis revealed that elevated KL-6 and decreased Carbon monoxide diffusion capacity were independently correlated with the occurrence of CTD-ILD, the decreased of DLcoSB% (OR=0.928, 95%CI: 0.891-0.968) and increase of KL-6 level (OR=1.005, 95%CI: 1.003-1.007) was the independent risk factor for the occurrence of ILD. Conclusion: The serum KL-6 is an important biomarker for the diagnosis of CTD-ILD and when the level of KL-6 is increased, the ILD should be alert.


Assuntos
Doenças do Tecido Conjuntivo , Doenças Pulmonares Intersticiais , Mucina-1/sangue , Biomarcadores , Doenças do Tecido Conjuntivo/diagnóstico , Humanos , Doenças Pulmonares Intersticiais/diagnóstico , Fatores de Risco
11.
BMC Pulm Med ; 19(1): 215, 2019 Nov 14.
Artigo em Inglês | MEDLINE | ID: mdl-31727051

RESUMO

BACKGROUND: Acute exacerbation (AE) is the major cause of morbidity and mortality in patients with idiopathic pulmonary fibrosis (IPF). AEs also occur in other forms of fibrosing interstitial lung disease (fILD). The clinical features and prognosis of AE patients with connective tissue diseases (CTDs) associated-ILD has not been fully described. METHODS: We retrospectively reviewed 177 patients with either IPF or a characterized CTD-ILD admitted to Nanjing Drum Tower Hospital with an AE from January 2010 to December 2016. RESULTS: The study cohort included 107 subjects with AE-IPF and 70 cases with AE-CTD-ILD. Female gender, prior use of corticosteroid and immunosupressants, lower serum albumin, higher D-dimer level, TLC% pred, survival, and treatment with immunosupressants and caspofungin were more common in the CTD-ILD group (all p<0.05). The incidences of AE-CTD-ILD and AE-IPF were similar in our single center (p = 0.526). TLC% pred was the risk factor for AE after ILD diagnosis for 1 year in CTD patients (p = 0.018). Log-rank tests showed patients with CTD-ILD had a significantly lower mortality rate compared with IPF patients after AEs (p = 0.029). No significant difference in survival was noted among CTD subgroups (p = 0.353). The survival was negatively correlated with WBC count, LDH and CT score, (p = 0.006, p = 0.013 and p = 0.035, respectively), and positively correlated with PaO2/FiO2 ratio (p<0.001) in the CTD-ILD group. WBC count and PO2/FiO2 ratio were the independent predictors for survival in AE-CTD-ILD after adjusting for other clinical variates in Cox regression Models (p = 0.038 and p < 0.001, respectively). CONCLUSIONS: The clinical characteristics of patients with AE-CTD-ILD differed from those with AE-IPF, while AE incidences were similar between the two groups. Subjects with AE-CTD-fILD tended to have a better prognosis, and WBC count and PO2/FiO2 ratio were the independent survival predictors for these patients.


Assuntos
Doenças do Tecido Conjuntivo/epidemiologia , Fibrose Pulmonar Idiopática/epidemiologia , Doenças Pulmonares Intersticiais/epidemiologia , Oxigênio/sangue , Doença Aguda , Idoso , China , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/terapia , Progressão da Doença , Feminino , Humanos , Fibrose Pulmonar Idiopática/diagnóstico , Incidência , Contagem de Leucócitos , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/terapia , Masculino , Prognóstico , Testes de Função Respiratória , Estudos Retrospectivos , Fatores de Risco , Análise de Sobrevida , Tomografia Computadorizada por Raios X
12.
BMC Res Notes ; 12(1): 747, 2019 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-31730479

RESUMO

OBJECTIVES: The association between post-traumatic stress disorder (PTSD) and medical comorbidities is controversial since most studies focused on specific comorbidity and victim types. In Italy, data on this issue are scarce. A comprehensive evaluation of all the ICD medical categories co-occurring in PTSD may orient assessment and treatment during clinical and forensic practice. This is the first study evaluating all the ICD physical comorbidities and gender-related differences in Italian PTSD patients. Eighty-four PTSD patients (36 females, 48 males) were included. The Clinician-Administered PTSD Scale, Mini International Neuropsychiatric Interview and Davidson Trauma Scale were administered. RESULTS: Most patients had a PTSD consequent to an accident and half of them presented extreme symptom severity. No gender differences emerged on symptom severity/duration and age at the event. Metabolic (39.29%), circulatory (20.24%) and musculoskeletal systems/connective tissue diseases (17.86%) were the most frequent comorbidities. Metabolic/circulatory diseases were more frequent among males (p = 0.019 and p = 0.027, respectively) while females more frequently showed neoplasms (p = 0.039). Physical comorbidities represent a serious complication in PTSD patients and are more prevalent than in the Italian population. While gender is not associated with symptom presentation, it seems to play a key role in specific comorbidities including metabolic, circulatory and neoplastic diseases.


Assuntos
Doenças Cardiovasculares/epidemiologia , Doenças do Tecido Conjuntivo/epidemiologia , Doenças Metabólicas/epidemiologia , Doenças Musculoesqueléticas/epidemiologia , Transtornos de Estresse Pós-Traumáticos/epidemiologia , Adulto , Idoso , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/fisiopatologia , Comorbidade , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/fisiopatologia , Feminino , Humanos , Classificação Internacional de Doenças , Itália/epidemiologia , Masculino , Doenças Metabólicas/diagnóstico , Doenças Metabólicas/fisiopatologia , Pessoa de Meia-Idade , Doenças Musculoesqueléticas/diagnóstico , Doenças Musculoesqueléticas/fisiopatologia , Prevalência , Escalas de Graduação Psiquiátrica , Índice de Gravidade de Doença , Fatores Sexuais , Transtornos de Estresse Pós-Traumáticos/diagnóstico , Transtornos de Estresse Pós-Traumáticos/fisiopatologia
13.
BMC Res Notes ; 12(1): 711, 2019 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-31666125

RESUMO

OBJECTIVE: Approximately 10% of patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency carry a mutation that disrupts CYP21A2 and the flanking TNXB gene resulting in CAH-X, a contiguous gene deletion syndrome. TNXB encodes tenascin-X (TNX), an extracellular matrix glycoprotein that plays an important role in collagen organization. TNXB impairment is associated with Ehlers-Danlos syndrome. Symptoms include joint hypermobility, hernias and cardiac defects. We measured serum TNX using an antibody targeting the amino-terminal of the TNX protein in 161 subjects, including extensively genotyped and phenotyped CAH patients, their relatives, and healthy controls. RESULTS: We evaluated the potential of serum TNX as a screening tool for CAH-X. CAH-X patients, especially haploinsufficient patients carrying the TNXA-TNXB chimeric gene CAH-X-CH-1 showed reduced TNX levels compared to controls (P < 0.05). TNX levels were similar in all subjects carrying a TNXB mutation. However, CAH patients who did not harbor a TNXB mutation also had reduced TNX compared to controls (P < 0.001). Thus, measuring serum TNX is not an effective screen for CAH-X amongst patients with CAH. TNXB genotyping is recommended for CAH patients who have symptoms of a connective tissue disorder. Epigenetic factors that influence TNX expression require further study.


Assuntos
Hiperplasia Suprarrenal Congênita/sangue , Síndrome de Ehlers-Danlos/sangue , Tenascina/sangue , Tenascina/genética , Adolescente , Hiperplasia Suprarrenal Congênita/genética , Adulto , Idoso , Biomarcadores/sangue , Criança , Pré-Escolar , Doenças do Tecido Conjuntivo/diagnóstico , Síndrome de Ehlers-Danlos/genética , Feminino , Deleção de Genes , Humanos , Instabilidade Articular/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo , Esteroide 21-Hidroxilase/genética , Adulto Jovem
14.
Genet Test Mol Biomarkers ; 23(11): 783-790, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31638417

RESUMO

Aims: This quality analysis study was designed to review the indications, reports, and clinical consequences of 438 diagnostic next-generation sequencing (NGS) gene panel analyses for hereditary connective tissue disorders (HCTD). Methods: Molecular analyses were retrieved from laboratory databases and patient records, and compared to the clinical information in the requisition and classified according to the Human Phenotype Ontology. Results: In 123 of 438 NGS analyses, 156 sequence variants were reported in 33 of 54 genes analyzed. NGS analyses and, in some cases, postanalytic assessment resulted in identification of pathogenic variants in 40 (9%) of patients, and variants of uncertain significance were identified in 83 (19%) of cases analyzed. While cardiovascular abnormalities were the most common phenotype noted in the requisitions, no specific organ system could be identified in which the reported symptoms provided an actionable indication for the analysis. Certain health issues recorded in the patients' records were found to be frequently left out of requisitions. Conclusions: The interpretation of genetic sequence variants continues to be a significant challenge in HCTD. Although not associated with the highest diagnostic yield, cardiovascular disease and family history may be suitable indications for NGS due to the clinical consequences of the identification of a known or likely causative sequence variant for a vascular HCTD in patients and relatives.


Assuntos
Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Tecido Conjuntivo/metabolismo , Tecido Conjuntivo/fisiopatologia , Bases de Dados Genéticas , Predisposição Genética para Doença/genética , Testes Genéticos/métodos , Humanos
15.
Clin Lab ; 65(9)2019 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-31532087

RESUMO

BACKGROUND: Based on advances over several decades, a significant number of autoantibodies are aiding the diagnosis, differential diagnosis and even prognostic estimates of patients with connective tissue diseases (CTD). Based on cost and time constraints, multiplex assays are used more and more in routine practice. Here we describe the evaluation results of a novel spot immunoassay (SeraSpot® ANA) for multiplex analysis of the main CTD specific autoantibodies, which is based on autoantigens immobilized on microtitration plates. METHODS: For evaluation of the ANA spot immunoassay, comprising dsDNA, histone, nucleosome, Scl-70, U1-RNP (mixture of U1-RNP-A, C, and 70k), Sm (SmD), RibP (P0), Ro52/TRIM21, Ro60, La/SS-B, CENP-B, Jo-1, PM/ Scl-100, and Ku as target antigens, sera of 489 patients with systemic autoimmune rheumatic disease (SARD), sera of 54 patients with herpes virus infections, and sera of 202 apparently healthy individuals (AHI) were tested. RESULTS: The concordance between the SeraSpot and EIA results of disease specific autoantibodies (AABs) was high (94 - 97% for CENP-B, Jo-1, Scl-70, Sm, La, Ro52 and Ro60 antibodies) to moderate (86.7% for dsDNA antibodies), and no major differences in the frequency of these AABs in patients with CTD were observed. In SLE patients, the SeraSpot results of dsDNA antibodies correlate better with CLIFT results and HEp-2 cell pattern than the EIA results. The diagnostic specificities of SLE, SSc, SjS, and myositis specific AABs are very high (96.5 - 100%) compared to apparently healthy individuals, but lower with regard to serological differentiation of the SARD entities (86.6 - 99.1%). However, very high positive likelihood ratios (10 up to infinite) could be obtained by disease specific AAB profiles. CONCLUSIONS: The SeraSpot® ANA assay allows the detection of 14 AAB specificities used for the diagnosis and dif-ferentiation of CTD in one approach. Although the concordance between the SeraSpot® assay and EIA is moderate for most of the tested AAB specificities, defined AAB profiles are suitable for the correct diagnosis of the CTD entities. If time matters, the authors suggest the parallel employment of immunofluorescence on HEp-2 cells and the SeraSpot® ANA assay for screening and specific AAB determination of patients with suspected CTD.


Assuntos
Autoanticorpos/imunologia , Autoantígenos/imunologia , Doenças do Tecido Conjuntivo/imunologia , Imunoensaio/métodos , Linhagem Celular Tumoral , Doenças do Tecido Conjuntivo/diagnóstico , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/imunologia , Doenças Reumáticas/diagnóstico , Doenças Reumáticas/imunologia , Sensibilidade e Especificidade
17.
Rheumatol Int ; 39(10): 1777-1781, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31385080

RESUMO

We sought to determine the prevalence of additional connective tissue diseases (CTDs) in patients with idiopathic inflammatory myopathies (IIM), and to study the muscle biopsy patterns in various clinico-serologic subsets of myositis. We undertook a retrospective cohort study of 648 patients with a histological diagnosis of IIM. The following was determined from the South Australian Myositis Database: presence of associated CTDs, histological details and presence of myositis-specific (MSA) or myositis-associated (MAA) antibodies. Among patients with IIM, a significantly greater proportion had systemic sclerosis 32/648 (4.9%) than mixed connective tissue disease (12/648, p = 0.003), primary Sjogren's syndrome (12/648, p = 0.003), systemic lupus erythematosus (10/648, p < 0.001) or rheumatoid arthritis (6/648, p = 0.0001). Polymyositis was the most common IIM diagnosis regardless of the presence or absence of CTD. MSA/MAA was more commonly detected in those with systemic sclerosis than those with IIM alone (OR 5.35, p < 0.005). The higher prevalence of SSc (compared with other CTDs) in IIM, together with the more frequent detection of autoantibodies in this group, suggests that these conditions may be linked.


Assuntos
Doenças do Tecido Conjuntivo/epidemiologia , Miosite/epidemiologia , Escleroderma Sistêmico/epidemiologia , Autoanticorpos/sangue , Biomarcadores/sangue , Biópsia , Doenças do Tecido Conjuntivo/sangue , Doenças do Tecido Conjuntivo/diagnóstico , Bases de Dados Factuais , Humanos , Miosite/sangue , Miosite/diagnóstico , Prevalência , Estudos Retrospectivos , Escleroderma Sistêmico/sangue , Escleroderma Sistêmico/diagnóstico , Austrália do Sul/epidemiologia
18.
Int J Rheum Dis ; 22(9): 1741-1745, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31328423

RESUMO

BACKGROUND: Acute exacerbation (AE) of idiopathic pulmonary fibrosis (IPF) is associated with high mortality, but there is limited clinical data on AE of interstitial lung disease (ILD) in connective tissue disease-associated ILD (CTD ILD). The present study was conducted to provide prevalence and clinical features of AE, as well as various risk factors associated with mortality among AE CTD ILD patients. METHODS: Between May 2013 and April 2018, 15 patients who developed AE among 105 consecutive patients with CTD with chronic ILD were included. AE was defined using the criteria recently proposed by the IPF net, with slight modification for adaptation to CVD-IP6 (collagen vascular disease-associated interstitial pneumonia), and patients having CTD with AE met all the criteria. RESULTS: Fifteen patients with mean age of 45.8 ± 13.9 years developed AE; the most common subgroup (n = 5, 33%) was systemic sclerosis. The mean duration (months) between diagnosis of ILD and AE was 56.5 ± 38.0 with mean follow-up duration of 24 ± 18.1 months. The baseline arterial oxygen pressure (PaO2 ) was 81.7 ± 8.1 mm Hg and mean forced vital capacity (%) was 57.9 ± 8.9. Five patients requiring mechanical ventilation died. Patients with shorter duration (months) of disease between onset of ILD to AE had higher mortality, 40.4 ± 45.1 vs 64.6 ± 33.6. Those who had significantly lower baseline PaO2 (mean ± SD), 72.6 ± 3.4 vs 86.2 ± 5.3 mm Hg (P = .002) had higher mortality. CONCLUSIONS: In our study, the majority of patients with AE CTD ILD had systemic sclerosis. Patients with lower baseline PaO2 and those requiring mechanical ventilation had higher mortality.


Assuntos
Doenças do Tecido Conjuntivo/epidemiologia , Fibrose Pulmonar Idiopática/epidemiologia , Doenças Pulmonares Intersticiais/epidemiologia , Adulto , Doenças do Tecido Conjuntivo/diagnóstico , Doenças do Tecido Conjuntivo/mortalidade , Doenças do Tecido Conjuntivo/terapia , Progressão da Doença , Feminino , Humanos , Fibrose Pulmonar Idiopática/diagnóstico , Fibrose Pulmonar Idiopática/mortalidade , Fibrose Pulmonar Idiopática/terapia , Imunossupressores/uso terapêutico , Índia/epidemiologia , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/mortalidade , Doenças Pulmonares Intersticiais/terapia , Masculino , Pessoa de Meia-Idade , Prevalência , Prognóstico , Estudos Prospectivos , Respiração Artificial , Medição de Risco , Fatores de Risco , Fatores de Tempo
19.
BMJ Case Rep ; 12(7)2019 Jul 02.
Artigo em Inglês | MEDLINE | ID: mdl-31270087

RESUMO

A 35-year-old man, a known asthmatic and with a history of smoking presented with a history of recurrent episodes of mild haemoptysis. On examination, there was decreased intensity of breath sounds on the right infraclavicular area. The chest X-ray and CT chest showed a mass in right upper lobe with nodules in the other lobe. The VAT showed large heavily vascularised mass with surface laden with multiple nodules. The wedge resection of the mass was taken and sent for histopathology examination. The biopsy result showed picture suggestive of connective tissue disease associated follicular bronchiolitis. The patient did not have any signs or symptoms of connective tissue disease. However he was positive for Rheumatoid factor, ANA, anti-RO, anti-CCP antibodies. He was started on steroids and azathioprine. After 6 months of treatment, the size of the mass and nodules reduced by 50% and ESR was reduced to 5 from 75.


Assuntos
Bronquiolite/complicações , Bronquiolite/diagnóstico por imagem , Doenças do Tecido Conjuntivo/complicações , Doenças do Tecido Conjuntivo/diagnóstico , Tomografia Computadorizada por Raios X/métodos , Corticosteroides/uso terapêutico , Adulto , Azatioprina/uso terapêutico , Biópsia , Bronquiolite/tratamento farmacológico , Doenças do Tecido Conjuntivo/tratamento farmacológico , Diagnóstico Diferencial , Humanos , Fatores Imunológicos/uso terapêutico , Pulmão/diagnóstico por imagem , Pulmão/patologia , Neoplasias Pulmonares , Masculino , Prednisolona/uso terapêutico , Rituximab/uso terapêutico
20.
Pan Afr Med J ; 32: 181, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31312295

RESUMO

Introduction: The term anti-nuclear antibody (ANA) is used to define a large group of autoantibodies which specifically bind to nuclear elements. Although healthy individuals may also have ANA positivity, the measurement of ANA is generally used in the diagnosis of autoimmune disorders. However, various studies have shown that ANA testing may be overused, especially in pediatrics clinics. Our aim was to investigate the reasons for antinuclear antibody (ANA) testing in the general pediatrics and pediatric rheumatology clinics of our hospital and to determine whether ANA testing was ordered appropriately by evaluating chief complaints and the ultimate diagnoses of these cases. Methods: The medical records of pediatric patients in whom ANA testing was performed between January 2014 and June 2016 were retrospectively evaluated. Subjects were grouped according to the indication for ANA testing and ANA titers. Results: ANA tests were ordered in a total of 409 patients during the study period, with 113 positive ANA results. The ANA test was ordered mostly due to joint pain (50% of the study population). There was an increased likelihood of autoimmune rheumatic diseases (ARDs) with higher ANA titer. The positive predictive value of an ANA test was 16% for any connective tissue disease and 13% for lupus in the pediatric setting. Conclusion: in the current study, more than one-fourth of the subjects were found to have ANA positivity, while only 15% were ultimately diagnosed with ARDs. Our findings underline the importance of an increased awareness of correct indications for ANA testing.


Assuntos
Anticorpos Antinucleares/sangue , Doenças Autoimunes/diagnóstico , Doenças do Tecido Conjuntivo/diagnóstico , Doenças Reumáticas/diagnóstico , Adolescente , Instituições de Assistência Ambulatorial , Doenças Autoimunes/epidemiologia , Doenças Autoimunes/imunologia , Criança , Pré-Escolar , Doenças do Tecido Conjuntivo/epidemiologia , Doenças do Tecido Conjuntivo/imunologia , Feminino , Humanos , Lúpus Eritematoso Sistêmico/diagnóstico , Lúpus Eritematoso Sistêmico/epidemiologia , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Valor Preditivo dos Testes , Estudos Retrospectivos , Doenças Reumáticas/epidemiologia , Doenças Reumáticas/imunologia , Turquia/epidemiologia
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