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PubMed1993

[Trigeminal neuropathy and connective tissue diseases].

Connective tissue diseases are a rare and poorly understood etiology of trigeminal neuropathy. In a retrospective multicentric study covering 12 years. 12 cases were identified in the archives of the Departments of Neurology, Rheumatology and Internal Medicine: 4 were associated with progressive systemic sclerosis. 4 with mixed connective tissue diseases and 4 with Sjögren's syndrome. In 9 of the cases, the neuropathy led to the diagnosis of connective tissue disease. Trigeminal neuropathy usually developed during the evolution of the connective-tissue disease but, in 3 cases, it preceded other clinical signs. As a rule, the connective tissue disease was relatively inactive when the trigeminal nerve was involved. The neuropathy was usually unilateral (9 times), localized to the inferior branch(es) of the trigeminal and manifested itself by an isolated sensation of cutaneous numbness associated with paresthesias. Only one patient had mixed motor and sensory involvement. The topography of the lesions (peripheral, truncal, radicular or central nuclear) remains unknown in most cases, however, electromyographic study of the blinking reflex in 2 patients confirmed peripheral neuropathy in both of them. Corticotherapy had only a minor effect: neuralgia was rare and carbamazepine was ineffective. The pathogenicity of trigeminal involvement is discussed and these observations are compared to the 151 cases reported in the literature.

Adult↗

PubMed2005

The role of echocardiographic techniques in connective tissue diseases.

Connective tissue diseases (CTD) lead to a high prevalence of common cardiac manifestations (pericarditis and myocarditis) and of ischemic coronary events with a considerable increase in cardiac mortality related to premature atherosclerosis. Although there are several techniques able to detect cardiac involvement in CTD patients, the most useful and non-invasive technique is echocardiographic exam which is able to detect not only valvular abnormalities, pericardial diseases and pulmonary hypertension but also left ventricular (LV) systolic or diastolic (regional or global) wall motion dysfunction. It is also well known that transesophageal echocardiography (TEE) can better identify cardiac abnormalities, vegetations and embolic sources. Symptomatic patients with positive stress echocardiographic exam or dipyridamole thallium imaging test should be referred for possible cardiac catheterization, especially if a large ischemic territory is involved. Until now, the echocardiographic evaluation of coronary artery tree consisted of assessing regional and global left ventricular systolic and diastolic function at rest and during pharmacological stress test. Recently, a new echocardiographic noninvasive method that allows direct assessment of coronary flow velocity in the mid-distal portion of left anterior descending artery (LAD) has been developed and validated. Advanced ultrasound technology (high-frequency broadband transducer with second harmonic capability) has now made possible a direct arterial visualization and measurement of coronary artery flow in left anterior descending in CTD patients with the assessment of coronary flow reserve (CFR).

Adult↗

PubMed1991

Is silicone associated with connective tissue disease?

Connective tissue diseases have been described in patients who have had silicone augmentation mammoplasty. Several possible mechanisms of pathogenesis are postulated. Although otherwise indistinguishable from other connective tissue disease, these patients may experience improvement or remission following implant removal. Current data suggest that the risk of disease after silicone breast augmentation is less than one percent. A large well-designed epidemiologic study will be needed to confirm this association.

Adult↗

PubMed2004

[Interdisciplinary management of pregnant women with connective tissue diseases].

Connective tissue diseases affect frequently women during the childbearing period. As fertility is not considerably reduced in these patients, monitoring and treatment of a pregnant patient is a complex clinical setting that requires an intensive cooperation between gynecologists, rheumatologists and pediatricians. In this article, a 4-point-program for the clinical management of these patients is presented that addresses specifically the problems inherent with the identification of patients with connective tissue diseases, preconceptional diagnostics as well as monitoring and treatment during pregnancy and the postpartal period. Clinical aspects that are intensively discussed include immunosuppressive therapy during pregnancy, the management of antiphospholipid antibody-dependent problems and the prophylaxis and treatment options for congenital heart block.

Antiphospholipid Syndrome↗

PubMed1999

[Influence of female sex on the respiratory manifestations of connective tissue disease].

Connective tissue diseases predominating in females include disseminated lupus erythematosus, antiphospholipid syndrome, primary pulmonary hypertension, Sjögren's syndrome, and rheumatoid arthritis. Pulmonary involvement is not uncommon and clinical expression may be modified by pregnancy. In addition, a certain number of drugs used for their treatment have an effect on fertility and pregnancy. We review here these different aspects and female-specific diagnostic and therapeutic features of connective tissue diseases.

Anti-Inflammatory Agents↗

PubMed2004

The role of the clinical immunology laboratory in the diagnosis and monitoring of connective tissue diseases.

Connective tissue diseases (CTD) are a group of autoimmune systemic diseases that can affect any organ-system in the body. The initial clinical presentations of these diseases overlap, not only with each other, but also with a wide range of other rheumatological and non-rheumatological disorders. Due to these reasons, clinicians depend heavily on the use of the clinical immunology laboratory for the diagnosis of CTD. A large number of tests exist in the laboratory for the investigation of CTD and each test can be performed by a number of different methods, each with its own limitations. Consequently, the significance of the results generated not only has to be interpreted in relation to the clinical picture, but also to the method used to generate the results. Moreover, within the laboratory, there is a hierarchical testing system for the investigation of CTD and if this system is used appropriately, in conjunction with the clinical picture, can result in the diagnosis/exclusion of CTD more efficiently and economically. In contrast, random use of the laboratory tests, combined with limited knowledge of the methods used to carry out these tests, can lead to delay or even misdiagnosis, as well as can lead to wastage of resources. In the following review, we have discussed the various tests that are used in the investigation of CTD, as well as the different methods used to carry out these tests, with the hope that such knowledge would lead to a more efficient and economical use of the clinical immunology laboratory in the investigation of CTD.

Antibodies, Antinuclear↗

PubMed1998

[Raynaud's phenomenon and connective tissue diseases].

Connective tissue diseases are the most important organic causes of Raynaud's phenomenon, and systemic sclerosis is the most frequent one. Careful history taking and clinical examination eventually lead to further investigations where capillaroscopy and specific autoantibodies tests have the best performances to reach diagnosis. Our understanding of local regulation of blood flow has been improved discovery of new neuromediators and local substances derived from endothelium. These compounds have direct implications for medical therapy and represent new hopes for the treatment of Raynaud's phenomenon which, however, remains difficult and incomplete for most patients.

Antibodies↗

PubMed1996

Immunoregulatory circuits and potential treatment of connective tissue diseases.

Connective tissue diseases are generated by different immunoregulatory alterations. Their better knowledge may lead to new treatment modalities. In systemic lupus erythematosus (SLE), increased IL-10 production by non-T cells might exert an inhibitory effect on Thl CD4+ T cells which would explain the decreased T cell functions observed in these patients. In rheumatoid arthritis (RA) patients, there may be a balance within the synovium, where the local production of IFN-gamma may limit the anti-inflammatory properties of IL- 10, thus leading to chronic damage. This article shows that rational approaches to therapy need to be individualized. In SLE, the potential therapeutic use of monoclonal antibodies to IL-10 seems to be gathering strength, whereas in RA exactly the opposite is contemplated: IL-10 is tried for its potential therapeutic use.

Antibodies, Monoclonal↗

PubMed2005

[The importance of antinuclear (ABA) and anti-double stranded dna (anti-dsDNA) antibodies in the diagnosis of connective tissue diseases.].

Connective tissue diseases (CTD) are characterized by the presence of autoantibodies against several tissues. These autoantibodies occur against cell membrane, cell receptors, plasma proteins, and cytoplasmic and nuclear components. In laboratories, anti-nuclear antibodies (ANA) and anti-double stranded DNA (anti-dsDNA) antibodies are widely used in diagnosis of CTD. The aim of this study was to investigate the presence and accompaniment of ANA and anti-dsDNA antibodies in diagnosis of several CTD and also to study the prevalence of ANA and anti-dsDNA in a group of 88 patients with various types of CTD. ANA were detected by immunofluorescence (IFA) using HEp-2 cells (Zeus Scientific, Inc. USA) and anti-dsDNA antibodies using Crithidia luciliae (BioSystems, Spain) as substrates in immunofluorescence. ANA Western Blot (WB) Immunoassay (ImmuBlot, International Immuno-Diagnostics, USA) was also used along with the tests referred to previously. ANA was found in the sera of 84 (96.5%) patients while anti-dsDNA was detected in 7 (7.95%). Moreover different fluorescence patterns were also evaluated with ANA IFA in accordance with anti-dsDNA results. Mixed patterns in three and a homogeneous pattern in four anti-dsDNA positive patients' sera were determined on HEp-2 cell line by IFA. Seven sera which were ANA and anti-dsDNA positive with IFA were also found to be positive with WB and their ANA patterns with the specific ANA WB bands were also evaluated. It was observed that IFA results were in concordance with WB results. Our data indicated that the above findings should be controlled and evaluated with a more advanced method such as western blotting technique in order to confirm the presence of specific antibodies along with clinical outcome of the patients. As a result we think that ANA WB method is an appropriate technique in diagnosis of CTD as anti-dsDNA and ANA bands can be evaluated together with this method.

English Abstract↗

PubMed1994

Autoimmune connective tissue disease and connective tissue disease-like illnesses after silicone gel augmentation mammoplasty.

Since first reported in 1982, published anecdotal reports have appeared with increasing frequency of patients in whom autoimmune connective tissue diseases developed after mammary augmentation with silicone gel-filled elastomer envelope-type prostheses. Although scleroderma has been reported most often, other diagnoses have included systemic lupus erythematosus, rheumatoid arthritis, Sjögren's syndrome, and mixed connective tissue disease. Other patients have ill-defined connective tissue-like illnesses often referred to as "human adjuvant disease." The occurrence of dermatomyositis and polymyositis after silicone breast implants appears to be infrequent. We report two new cases of dermatomyositis after silicone exposure. In addition, a comprehensive review of the literature pertaining to rheumatic disease and silicone gel augmentation mammoplasty is presented to provide some perspective on this highly complicated and controversial subject.

Adult↗

PubMed1992

The differing patterns of interstitial lung involvement in connective tissue diseases.

Connective tissue disorders (CTD) have a relatively high incidence of pulmonary complications but their delineation has been hampered by difficulties inherent in the diagnostic techniques. One fresh approach to this problem is based on a clustering method that uses data from 8 separate investigations to cluster the patients into 4 distinctly separate categories representing normal nonsmoker, normal smokers, those with active interstitial lung disease and those with bronchiolitis. Using this method, a large group of patients with CTD have been examined to assess the nature and extent of their pulmonary complications. Subjects in the first cluster had a normal test profile across all variables, and included no current active smokers. The normal smoking cluster contained only smokers who had a high total lavage cell number with a relative increase in macrophages and a decrease in lymphocytes. In this group, all respiratory variables were normal with the exception of a mildly depressed DLCO, also known to be associated with smoking. The general characteristics of the active interstitial lung disease cluster was a markedly depressed DLCO indicating impaired gas exchange, and elevated gallium index, bronchoalveolar lavage (BAL) cell number and neutrophil and lymphocyte percentages, all indicating an active inflammatory process. However more careful analysis of this group suggested the presence of 2 subgroups, one with a lymphocytic alveolitis, and another with a neutrophilic alveolitis. The bronchiolitis cluster characteristics were a markedly depressed maximal mid expiratory flow rate and raised BAL lymphocyte percentage and gallium index. The distribution of patients within the cluster groupings suggested that Sjögren's syndrome, often an accompaniment of other CTD, is most frequently associated with pulmonary disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗

PubMed1978

Free serum ribonucleoprotein in mixed connective tissue disease and other connective tissue diseases.

Free ribonucleoprotein (RNP) was found by means of a hemagglutination inhibition assay in 21 sera from 11 of 25 patients with mixed connective tissue disease (MCTD) who had 299 sera studied. Free RNP tended to appear when anti-RNP antibody titers fell or when prednisone was initiated or increased. Five of 72 SLE patients (211 sera) had free RNP in at least one serum. Three of them had anti-RNP antibodies in other sera. Free serum RNP was found in one of 20 patients with scleroderma and in two of seven patients with connective tissue disease "overlap" syndromes without anti-RNP.

Antibodies, Antinuclear↗

PubMed2004

Coronary spastic angina in patients with connective tissue disease.

BACKGROUND: Connective tissue disease, which is an inflammatory condition represented by C-reactive protein (CRP), is a risk factor for ischemic heart disease. The aim of the present study was to examine if there is a relationship between connective tissue disease and coronary spastic angina, and whether the inflammatory condition was associated with ischemic heart disease, even in patients with connective tissue disease. METHODS AND RESULTS: The study group comprised 73 consecutive patients with connective tissue disease who were admitted to the Department of Cardiovascular Medicine between April 2000 and March 2003. Of the 73 patients, 38 (19 men, 19 women) were diagnosed as having an ischemic heart disease (7 patients acute coronary syndrome, 19 patients coronary spastic angina, 12 patients stable exertional angina). In the present study, 19 (50.0%) of the 38 patients of ischemic heart disease were diagnosed as having coronary spastic angina. In the same study period, 151 (38.7%) of 390 patients with ischemic heart disease (without connective tissue disease) were diagnosed as having coronary spastic angina. The frequency of the patients with coronary spastic angina tended to be higher in patients with connective tissue disease than in patients without connective tissue disease. Among the study patients, serum CRP concentrations (mg/dl) were higher in patients with acute coronary syndrome (1.50 +/- 1.19, n=7) and those with coronary spastic angina (1.06 +/- 1.78, n=19) than in those with non-ischemia (0.35 +/- 0.40, n=35, p<0.05). CONCLUSIONS: Coronary spastic angina is a frequent complication in patients with connective tissue disease and the inflammatory condition is associated with coronary spastic angina and unstable angina in patients with connective tissue disease.

Aged↗

PubMed2004

[Undifferentiated, overlapping and mixed connective tissue diseases].

Mixed connective tissue disease (MCTD), undifferentiated connective tissue disease and overlap syndromes are autoimmune systemic diseases that must be differentiated. Antibodies against the U1-ribonucleoprotein complex --spliceosome-- allows the diagnosis of mixed connective tissue disease. Links between the immunologic and clinical phenomena are emerging. Longitudinal studies of patients with MCTD highlight the impact of pulmonary hypertension and contribute to define the disease. Immunogenetic studies hold MCTD as an independent disease.

Antibodies↗

PubMed1993

Undifferentiated, overlapping, and mixed connective tissue diseases.

Undifferentiated connective tissue disease (UCTD) is a term used by many rheumatologists to define a group of diffuse connective tissue disorders that lack definitive characteristics of any particular well-defined disorder. Overlapping connective tissue disease is often used interchangeably with UCTD but they both refer to diseases that are in evolution before all the characteristic clinical and laboratory symptoms are manifested. However, the clinical features of some of the overlapping connective tissue diseases appear to be better defined. The classical one is mixed connective tissue disease, where features of systemic lupus erythematosus, progressive systemic sclerosis, and polymyositis may exist together with a positive anti-extractable nuclear antibody and high titers of anti-ribonuclear protein antibody. This review attempts to clarify the confusion between these terms. The problems in the clinical and laboratory diagnosis of common connective tissue diseases that coexist are addressed and treatment options discussed. The long-term implications of making a diagnosis of a definitive connective tissue disease before all the required criteria are met should be kept in mind because the patient may never develop the disease and yet be subjected to psychological, social, and economic hardships.

Humans↗

PubMed2003

Occurrence of peptic ulcer disease in connective tissue disease patients associated with xerostomia.

BACKGROUND: Saliva plays a role in mucosal protection and ulcer healing. AIM: : To study whether decreased salivary production leads to peptic ulcer disease in connective tissue disease patients associated with xerostomia. PATIENTS AND METHODS: Two hundred and two connective tissue disease patients (90 with xerostomia and 112 without xerostomia) were enrolled. Their demographic data and use of medications were recorded. Peptic ulcer disease was confirmed by endoscopy. The stimulated salivary output and secretory epidermal growth factor level were measured. RESULTS: Compared with non-xerostomic counterparts, xerostomic patients manifested a higher occurrence of peptic ulcer disease (31% vs. 12%, P = 0.001), lower stimulated salivary output (9.3 +/- 4.1 vs. 22.9 +/- 5.9 mL/15 min, P < 0.001) and lower stimulated salivary epidermal growth factor output (1.40 +/- 0.77 vs. 3.00 +/- 0.96 ng/min, P < 0.001). Multivariate analysis disclosed that an older age (> or = 60 years) (odds ratio, 4.71; P < 0.001), xerostomia with stimulated salivary output of < or =1 mL/min (odds ratio, 7.54; P = 0.014) and the use of non-steroidal anti-inflammatory drugs (odds ratio, 5.76; P = 0.031) were the risk factors leading to peptic ulcer disease. In addition, xerostomic connective tissue disease patients receiving non-steroidal anti-inflammatory drugs manifested an extremely high risk of development of peptic ulcer disease (odds ratio, 19.78; P < 0.001). CONCLUSIONS: Ageing, the use of non-steroidal anti-inflammatory drugs and poor salivary function are potential risk factors for the development of peptic ulcer disease in patients with connective tissue disease. If these xerostomic subjects consume non-steroidal anti-inflammatory drugs, they will encounter an extremely high peptic ulcer disease risk.

Anti-Inflammatory Agents, Non-Steroidal↗

PubMed2004

[Proposal of a questionnaire for the characterization of the prevalence of digestive symptoms in connective tissue diseases].

BACKGROUND: Connective tissue diseases may damage multiple organic systems, including digestive system. In this one, the degree of injury vary according to the associated disease. Despite the significant frequency of gastrointestinal involvement, there are few studies characterizing the prevalence of digestive symptoms in connective tissue diseases. Furthermore, most of the studies available are less detailed and based in personal experiences or reviews of records. AIM: To establish a reliable list of gastrointestinal symptoms found in the progressive systemic sclerosis, rheumatoid arthritis, polymyositis/dermatomyositis, mixed connective tissue disease and systemic lupus erythematosus, through a medical interview and a predefined questionnaire of symptoms. PATIENTS AND METHODS: There were studied 99 patients, 90% females, mean age 45 years. The whole group were composed of 35 rheumatoid arthritis, 26 progressive systemic sclerosis, 21 systemic lupus erythematosus, 12 polymyositis/dermatomyositis and 5 mixed connective tissue disease. Each patient was submitted to an interview with a well trained doctor and answered a structured questionnaire, containing 17 questions. RESULTS: It was found a high prevalence of digestive symptoms in all five connective tissue diseases searched. Many of them were present in more than 50% of the patients. Called special attention the detection of some manifestations neglected by the literature like, for example, fecal incontinence. Also, disagreeing with other authors, was the finding of multiple gastrointestinal manifestations associated with rheumatoid arthritis. It was particularly surprising the occurrence of dysphagia in one third of the rheumatoid arthritis group. CONCLUSIONS: The connective tissue diseases are usual causes of many gastrointestinal complaints. The use of an interview plus predefined questionnaire seems a very effective way to identify and characterize symptoms and is even sometimes able to uncover features unknown before. Finally, the lack of studies, specially updated studies, did not allow more comprehensive comparisons.

Adult↗

PubMed1992

[Mixed connective tissue disease].

Mixed connective tissue disease can be regarded as a distinct rheumatic disease syndrome. It can be differentiated from the other systemic rheumatic diseases and overlap syndromes, and has its own diagnostic criteria. The article presents symptoms, treatment, outcome, classification and diagnosis of mixed connective tissue disease. The most usual symptoms are Raynaud's phenomenon, swelling of the hands, polyarthritis, muscle weakness, oesophageal hypomotility and pulmonary disease. The recommended therapy should be based on patterns of involvement of organ systems and the severity of the disease. In severe cases the treatment is often a combination of corticosteroids and cytostatics. Due to severe impacts on lungs and kidneys it seems necessary to modify earlier predictions of a generally favourable outcome in patients with mixed connective tissue disease.

Diagnosis, Differential↗