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Results for “Scleroderma, Diffuse”

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At least 595 records · Page 33Linked to original sources
PubMed2003

Increased bone resorption and failure to respond to antiresorptive therapy in progressive dystrophic calcification.

The aim of this study was to evaluate strategies to halt the progression of severe dystrophic calcification in a patient with progressive systemic sclerosis (PSS) and to monitor serial changes in biochemical markers of bone resorption and indices of calcium (Ca) metabolism in response to therapy. The relationship of bone turnover to the extent of dystrophic calcification was also investigated in a number of additional patients with varying degrees of calcinosis. Serial markers of bone turnover and indices of Ca metabolism were measured over a 3-year period in one patient with PSS and severe dystrophic calcification. Bone mineral density (BMD) was assessed by dual-energy x-ray absorptiometry (DXA). Bone turnover in this patient and two additional patients with PSS or dermatomyositis (DM) and severe dystrophic calcification (Group A, n = 3) was compared with that in patients with connective tissue disease with little or no evidence of dystrophic calcification (Group B, n = 13). Serial data on one patient with severe progressive calcinosis showed increased bone resorption markers, which remained high over a 3-year period despite antiresorptive therapy. BMD was low. Patients with PSS/DM with severe dystrophic calcification had higher bone resorption than those with minimal or no evidence of calcification. Mean serum ionized Ca and urinary Ca excretion were both lower in those with severe calcinosis. Bone resorption was increased in patients with connective tissue disease and severe dystrophic calcification. Several antiresorptive agents were shown to be ineffective in limiting either bone turnover or clinical progression in one patient.

Absorptiometry, Photon↗
PubMed2003

Progressive systemic sclerosis-polymyositis overlap syndrome with eosinophilic pleural effusion.

Pleural fluid rarely occurs in patients with progressive systemic sclerosis (PSS) or polymyositis (PM) with no lesions in the pulmonary area. Pleural fluids in patients with autoimmune diseases are mostly dominated by monocytes and lymphocytes but very rarely contain increased eosinophils. We report a 55-year-old male with PSS-PM overlap syndrome and eosinophilic pleural effusion. Air invasion into the pleural cavity and the antituberculous therapy could be ruled out as causes for the patient's eosinophilic pleural effusion, because the differential eosinophil count was already as high as 19% from the first thoracentesis before the start of antituberculous therapy. Infections and malignant tumor also were unlikely causes based upon the negative pleural fluid results and the negative pleural biopsy findings, except for nonspecific inflammation. After the administration of corticosteroid, the pleural effusion decreased promptly, with normalization of serum creatine phosphokinase and C-reactive protein concentrations.

Anti-Inflammatory Agents↗
PubMed2005

Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant.

UNLABELLED: We present a 7-week-old male infant with pseudoscleroderma as a primary manifestation of the Hutchinson-Gilford syndrome of premature aging. He had suffered intra-uterine growth retardation; micrognathism and a cleft palate were evident at birth. He presented with feeding difficulties and severe, diffuse scleroderma-like lesions, a faint peri-oral cyanosis and prominent scalp veins. With time, special facial features became more and more apparent: frontal bossing, prominent eyes, thin and fine nose and lips, microstomia, low-set ears and occipito-parietal alopecia. Histopathology of the skin showed an increased density and thickness of collagen in the dermis and hypodermis. Within the 1st year of life, typical skeletal characteristics were observed. The diagnosis of Hutchinson-Gilford syndrome was confirmed by analysis of the lamin A gene, revealing a heterozygous c.1824C > T (G608G) mutation. CONCLUSION: Hutchinson-Gilford syndrome is an extremely rare disorder of which the full clinical spectrum becomes evident with time. Sclerodermatous changes in the infant can be the first manifestation.

Alopecia↗
PubMed2006

The natural course of progressive systemic sclerosis patients with interstitial lung involvement.

OBJECTIVE: The aim of the study is to assess the natural course of systemic sclerosis (SSc) in patients with interstitial lung involvement and to evaluate the effects of treatment. MATERIALS AND METHODS: Sixty SSc patients with interstitial lung involvement were included in the study and history and retrospective data records of the patients were reviewed. RESULTS: It was observed that 47 patients (78.3%) had Raynaud's phenomenon, 7 patients (11.7%) had skin involvement, 5 patients (8.3%) had joint involvement, and 1 patient (1.7%) had gastrointestinal system involvement as the first manifestation of the disease. Lung involvement had developed on an average of 113 +/- 106 months after the first manifestation of the disease and was apparent within the first year in 10 patients (16.7%), between 1 and 2 years in 3 patients (5%), between 2 and 3 years in 2 patients (3.3%), between 3 and 4 years in 5 patients (8.3%), between 4 and 10 years in 21 patients (35%), and after 10 years in 19 patients (31.7%). When the symptoms of lung involvement appeared, 37 patients (61.7%) were not receiving treatment while 23 (38.3%) were using an immunosuppressive agent. The time interval of lung involvement for the treated patients was 131 +/- 95 months while it was 101 +/- 112 months in untreated patients (p>0.05). CONCLUSION: In SSc patients with interstitial pulmonary involvement, the disease frequently starts with Raynaud's phenomenon and pulmonary symptoms tend to appear at a mean of 7 years after the onset of disease. The first sign of the disease, the probability of interstitial pulmonary involvement, is highest during the first 15 years after. Although this probability decreases after 15 years, in up to 10% of the patients, interstitial pulmonary involvement can still occur even up to 40 years. Immunosuppressive treatment is not effective in preventing the development of pulmonary involvement. However, it delays the manifestation of pulmonary symptoms for nearly 4 years.

Adult↗
PubMed2006

Mutations of activin-receptor-like kinase 1 (ALK-1) are not found in patients with pulmonary hypertension and underlying connective tissue disease.

Pulmonary arterial hypertension is a recognized clinical component of systemic autoimmune diseases, especially systemic sclerosis. Mutations in the bone morphogenetic protein receptor 2 gene reported in sporadic and familial primary pulmonary arterial hypertension have failed to be detected in patients with either scleroderma spectrum disease or underlying connective tissue diseases. Activin receptor-like kinase 1 (ALK-1) gene has recently been linked to the pathogenesis of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia, which has some resemblance with the CREST syndrome. The presence of mutations in the ALK-1 gene in ten patients with underlying connective tissue diseases was investigated.

Activin Receptors, Type II↗
PubMed2004

Ischaemic stroke in progressive systemic sclerosis.

Progressive systemic sclerosis (PSS) or scleroderma is a multisystem disease affecting the skin, lungs, myocardium, kidneys and gastrointestinal tract. Primary involvement of cerebral arteries in PSS has been reported but is very rare. A 61-year-old woman suffering from scleroderma for six years was hospitalised for two subsequent episodes of transient acute dysarthria and left hemiparesis. After five hours from the first onset of symptoms, she was submitted to brain magnetic resonance (MR) protocol that showed a right subinsular ischaemic lesion and whole right middle cerebral artery (MCA) territory hypoperfusion. Intracranial and epiaortic MR angiography reported a focal stenosis in the M2 portion of MCA. She was immediately treated with i.v. high dose steroids and oral acetylsalicylic acid. At one-month follow up, MR findings were confirmed. We have documented a cerebral infarct in a PSS patient. In our opinion, the ischaemic stroke was caused by a localised autoimmune angiopathy.

Aspirin↗
PubMed2004

Resting and exercise physiology in interstitial lung diseases.

Interstitial lung diseases (ILDs) are a heterogeneous group of parenchymal pulmonary disorders with varying histologic appearances. Pulmonary function tests have gained a prominent role in the diagnosis and management of patients with these disorders. Although their role in the differential diagnosis of the various ILDs is limited, physiologic measurements are pivotal studies providing clues regarding disease severity, prognosis,and response to therapy.

Diagnosis, Differential↗
PubMed2006

Autoimmune disorders: gastrointestinal manifestations and endoscopic findings.

The gastrointestinal tract can be involved in many autoimmune disorders, and women are affected more than men in most of the disease processes discussed. As this article outlines, gastrointestinal manifestations can be either part of the clinical presentation or complications of treatment. Depending on the disease process and the severity of symptoms, gastrointestinal evaluation and treatment can have an important role in the management of these diseases.

Animals↗
PubMed2004

Autoantibodies in SLE but not in scleroderma react with protein-stripped nucleosomes.

Autoantibodies against nucleosomes (ANuA) are known to be sensitive markers for systemic lupus erythematosus (SLE), but their clinical relevance seemed to be limited because sera from patients with progressive systemic sclerosis (PSS) also showed positive reactions with conventional ANuA ELISA test systems (anti-Nu1 ELISA). It was generally assumed thatANuA were associated with both diseases. Using discontinuous sucrose gradient centrifugation to generate pure nucleosomes, we discovered by chance that at the 30-50% sucrose interface an antigen (Nu2) banded which was demonstrably free of non-histone components and histone H1. The two different nucleosome preparations, Nu1 and Nu2, were used in parallel as antigenic substrates in standardised ELISA tests to analyse sera from SLE (295 patients), PSS (119) and patients with other rheumatic diseases (101). With Nu1, 62% of the SLE and 52% of the PSS sera showed positive reactions. Two sera from patients suffering from Sjögren's syndrome (SS) and one from polymyositis were also positive. Using the Nu2 preparation, 58% of the SLE but none of the PSS sera showed a positive reaction. One serum from a patient with SS was also positive. It could be shown that it was the PSS-specific autoantigen Scl-70 in the nucleosome preparation (Nu1) which contributed to the positive reactions of the PSS sera in conventional ANuA test systems, whereas in the Nu2 preparation no remaining Scl-70 was detectable. The present study definitely proved that ANuA are highly and specifically associated with SLE but not with PSS.

Antibodies, Antinuclear↗
PubMed2005

Evaluation of depression and anxiety in patients with systemic sclerosis.

OBJECTIVE: To determine the prevalence of depression and anxiety in patients receiving follow-up in France for systemic sclerosis. PATIENTS: We prospectively evaluated 42 patients admitted for a follow-up evaluation of systemic sclerosis, including 18 with diffuse cutaneous scleroderma and 24 with limited cutaneous scleroderma. Patients admitted for recent organ involvement were excluded. Mean age was 57 +/- 13 years, mean disease duration was 10.2 +/- 8 years, and the mean functional Health Assessment Questionnaire score was 0.682 +/- 0.649. Only four patients had a history of antidepressive drug therapy. We used the Montgomery-Asberg Depression Rating Scale (MADRS) and the Hamilton Anxiety Rating Scale to evaluate depression and anxiety, respectively. RESULTS: Eighteen (43%) patients met criteria for depression and 11 (26%) had scores above the cutoff usually taken to define moderate-to-severe depression. Twenty-seven (64%) patients met criteria for minor anxiety and eight (19%) for major anxiety. Depression and anxiety were strongly correlated with each other (r = 0.89; P < 0.0001). The MADRS score was significantly higher in the patients with pulmonary restrictive disease (P = 0.009) but was not associated with the extent of skin involvement, organ involvement, or disability. CONCLUSION: Systemic scleroderma is associated with a high prevalence of depression and anxiety. These disorders should be looked for routinely and the need for specific treatment evaluated.

Adult↗
PubMed2006

CSF orexin levels of Parkinson's disease, dementia with Lewy bodies, progressive supranuclear palsy and corticobasal degeneration.

Excessive daytime sleepiness has been widely accepted as a common problem not only in Parkinson's disease (PD) but also in other related disorders. Lowered excretion of orexin A (hypocretin 1) into the cerebrospinal fluid (CSF) is known to play a pathological role in narcolepsy and secondary hypersomnia due to hypothalamic dysfunction. Although the levels of CSF orexin in PD have been previously examined, the results have been controversial, and no systematic investigation of CSF orexin excretion has been conducted on PD related disorders. In this study, orexin was measured in CSF collected by lumbar puncture in 62 patients with PD, 13 patients with dementia with Lewy bodies (DLB), 16 patients with progressive supranuclear palsy (PSP), and 7 patients with corticobasal degeneration (CBD). Levels of CSF orexin (mean+/-SD pg/ml) were 302+/-38 in PD, 297+/-48 in DLB, 258+/-37 in PSP, 246+/-90 in CBD. The occurrence of low orexin levels (<or=110pg/ml) was rare in both PD and DLB, and orexin levels were significantly lower in the PSP and CBD groups compared to PD (PSP: p<0.001, CBD: p<0.05). Orexin levels were inversely correlated with duration of morbidity in PSP but not in the other conditions studied. These findings suggest that loss of orexin neurons or impaired orexin neurotransmission might exist as a part of the neurodegeneration associated with advanced PSP with long duration of morbidity.

Aged↗
PubMed2004

Grey and white matter atrophy in early clinical stages of primary progressive multiple sclerosis.

BACKGROUND: There is little information available on grey and white matter (GM and WM) atrophy in primary progressive multiple sclerosis (PPMS) and on their relationships with clinical and other magnetic resonance imaging (MRI) measures. AIM: To evaluate disease progression in the early phase of PPMS, focusing on axonal loss as assessed by volumetric MRI measures of WM and GM, and to determine their relationships with clinical outcomes and lesion load measures. METHODS: Forty-three patients with PPMS within 5 years of symptom onset and 45 control subjects were studied. Three-dimensional brain scans were acquired and segmented into WM, GM, and cerebrospinal fluid (CSF) using SPM99. Brain parenchymal (BPF), WM (WMF), and GM fractions (GMF) normalized against total intracranial volumes were estimated. T2-weighted (T2) and enhancing lesion loads were also determined. Expanded Disability Status Scale (EDSS) and Multiple Sclerosis Functional Composite (MSFC) scores were recorded in all patients. RESULTS: There were significant differences between patients and controls in BPF, WMF, and GMF values (P < 0.001). BPF (r = -0.469; P = 0.002) and WMF (r = -0.532; P < 0.001) but not GMF (r = -0.195; P = 0.2) correlated with EDSS scores. BPF (r = 0.518; P = 0.001), WMF (r = 0.483; P = 0.001), and GMF (r = 0.337; P = 0.031) correlated with MSFC scores. Correlations with enhancing lesion and T2 loads were only significant for BPF and WMF. CONCLUSIONS: Brain atrophy is seen in the early stages of PPMS and affects both GM and WM. WM atrophy appears more closely related to clinical outcome and WM focal damage than GM atrophy in this patient group.

Adult↗
PubMed2005

[Conjugal progressive systemic sclerosis].

INTRODUCTION: Familial occurrence of progressive systemic sclerosis is unusual. The occurrence of conjugal scleroderma is exceptional. EXEGESIS: We report here a case of systemic sclerosis in a wife and husband who both developed the onset of illness within a 10-year period. Solvent exposure was noted. CONCLUSION: The etiology of systemic sclerosis remains unknown. Environmental factors may play role in its pathogenesis.

Aged, 80 and over↗
PubMed2006

[Anti PM-Scl antibodies. Study of prevalence and of meaning].

OBJECTIVE: The purpose of our study is to appreciate the prevalence of antibodies anti PM-Scl within the framework of antinuclear antibodies detection and to clarify clinical biological and evolutive features associated to these antibodies. METHODS: 9,747 consecutive antinuclear testing datas allowed us to evaluate anti PM-Scl antibodies frequency. A retrospective analysis of patients characteristics was performed to identify clinical, biological and evolutive signs associated with this antibody over a five years follow up period. RESULTS: Over the 9,747 samples tested for antinuclear antibodies detection, 3,493 (35.8%) are positive. An anti ENA activity is observed in 727 (7.5%) cases and anti PM-Scl in 6 (0.06%). These antibodies are described in systemic sclerosis, myositis or overlap syndromes. All theses diseases showed a low evolutivity over the five years of follow up. CONCLUSIONS: Low prevalence and possible association with an overlap autoimmune syndrome of quite good prognosis are reported with anti PM-Scl antibodies.

Adult↗