An uncommon association: Sjögren's syndrome and autoimmune myelofibrosis.
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Biomedical subjects
Publications and source records attributed to I Marie.
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In a retrospective study of 79 consecutive patients, we evaluated characteristics of polymyositis (PM) and dermatomyositis (DM) and compared clinical presentation, biochemical findings, histologic changes, evolution, complications, and mortality rate of elderly patients (aged > or = 65 yr) and younger patients (aged < or = 64 yr) at the onset of PM/DM. We found a high prevalence of PM/DM in elderly patients: 23 patients (29%) were aged 65 years or over. We also found that esophageal involvement (34.8% versus 16.1%, respectively) and bacterial pneumonia related to both ventilatory insufficiency and esophageal impairment (21.7% versus 5.4%, respectively) were more common in elderly patients compared with younger patients, resulting in increased morbidity and mortality rates. Moreover, malignancy frequency was higher in elderly patients compared with younger patients (47.8% versus 9.1%, respectively, p = 0.0001), particularly patients with DM (10/11). Fifty percent of malignancies were colon malignancies in elderly patients. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and ferritin levels were also higher in the elderly patient group compared with the younger group, and the presence of serum hypoprotidemia, hypoalbuminemia, and anemia was more frequent. Finally, PM/DM complete remission was less frequent (13.6% versus 41.1%) and the mortality rate (47.8% versus 7.3%) was higher in elderly patients than in younger patients. The main causes of death in elderly patients were bacterial pneumonia, due to ventilatory insufficiency and esophageal impairment, and malignancies. Our findings therefore indicate that PM/DM-related esophageal and lung involvement should be systematically searched for in elderly patients. Esophageal manometry and pulmonary function tests should become an integral part of initial evaluation in elderly patients for early detection of impairment. Moreover, as we observed a marked overrepresentation of colon cancer in elderly patients with DM, we suggest that the search for malignancies in elderly patients with DM should include lower gastrointestinal tract investigations.
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Lupus-like anticoagulant is commonly encountered in human immunodeficiency virus infection although thromboembolic manifestations are rare in HIV patients. We report the case of an HIV patient who developed gangrene of both forefeet associated with anticardiolipin antibodies. A 42-year-old woman had a 12-year history of HIV infection (stage B2). She presented with painful gangrene involving the forefeet of 4-day duration. Doppler ultrasonography, electromyography and nailfold capillaroscopy were normal. Skin biopsy revealed intracapillary thrombi and severe necrosis within the hypodermis; there was no evidence of vasculitis. Laboratory findings showed a marked inflammatory syndrome and the presence of anticardiolipin antibodies (IgG: 22 GPL U/ml). Several cutaneous manifestations are known to be associated with antiphospholipid syndrome, such as livedo reticularis, ulcers and gangrene of the extremities. Skin biopsy often shows noninflammatory thrombosis of small vessels within the dermis. Microcirculation damages have also been described in HIV infection, mainly vasculitis. In the present case report, the absence of both vasculitis and other causes suggest that anticardiolipin could be the culprit. But, it is possible that painful gangrene of the forefeet was secondary to HIV infection.
Marfan syndrome is an hereditary condition which primarily affects conjunctive tissue with predominant vascular lesions, aortic insufficiency and aortic dissection which condition vital prognosis. Until further progress is made in the genetic determination of the disease, the diagnosis is currently based on the association of clinical criteria, which enables multidisciplinary management. This approach should lead to specific medical and surgical treatment--which may reduce Marfan morbidity and mortality. We report the case of a 45 year-old patient with suspected Marfan syndrome during adolescence. The presence of a cardiovascular lesion and a recently reported abnormality i.e. a sacral erosion by a dural ectasia, enabled us to confirm the diagnosis. We reviewed the current criteria in Marfan diagnosis and their specific management.
Palpable purpura is the hallmark of cutaneous vasculitis. Small-vessel vasculitis is a common vasculitis manifestation associated with acute or chronic infection. It is also characteristic of a systemic disease whether infectious or not. The pathogenic mechanisms appear to be complex: immune complex formation, vessel damage or altered vessel function mediated directly by infectious agents, humoral or cellular immunologic response. It is also a reaction to mixed cryoglobulinemia. Diagnosis of cutaneous vasculitis is simple (palpable purpuric eruption, nodules, vesiculobullous lesions, ulcerations), but etiological investigation is often difficult because the infectious origin is only rarely demonstrated. This type of purpura occurs in bacterial endocarditis and therefore blood cultures must be performed in any febrile patient particularly in the presence of a cardiac murmur. In fact the viral, parasitic or bacterial infectious origin is demonstrated in less than 30% of the cases of leucocytoclastic vasculitis. While focal sepsis is often found and its eradication should be followed-up, its role has not been proven particularly as antibiotics alone themselves can cause hypersensitivity vasculitis. Finally, mention must be made of virus induced vasculitis (B and C hepatitis, cytomegalovirus, parvovirus), antiviral treatment which permits better control of vasculitis.
Esophageal involvement is considered a major cause of morbidity and an indicator of poor prognosis in polymyositis (PM) and dermatomyositis (DM). We describe 3 patients with steroid resistant PM/DM with life threatening esophageal involvement, resulting in impossible oral feeding and enteral nutrition with a gastric tube. All patients had both dramatic and rapid improvement of all clinical manifestations after initiation of intravenous immunoglobulin (IVIG) therapy. Swallowing disorders completely disappeared after the second infusion of IVIG, which permitted normal oral feeding and ablation of the gastric tube. Our findings suggest IVIG should be considered the treatment of choice in such cases.
BACKGROUND: Although nosocomial febrile illness (NFI) is common in hospitalized patients, it has been less extensively studied in the elderly. OBJECTIVE: To determine the frequency, causes, and risk factors of NFI in elderly inpatients. METHODS: This prospective study involved 608 patients (> or = 65 years of age) admitted in an acute geriatric unit. Investigators followed this cohort until 1 of the following events occurred: development of NFI, discharge from the geriatric unit, or death. The cause of NFI was classified into 3 groups: infectious, noninfectious, and no apparent diagnosis. We systematically studied 17 comorbid conditions, 6 drugs, and 7 invasive procedures. For comparison, the patients were stratified into 2 groups: patients with NFI and patients without NFI. RESULTS: Sixty-six patients (10.9%) with NFI were identified. They were compared with the remaining 542 patients without NFI. In 49 patients (74%) with NFI, the cause was infectious; in 9 (13.5%), it was noninfectious; and in 8 (12.5%), there was no apparent cause. After multivariate analysis, only fecal incontinence (odds ratio [OR], 5.54; 95% confidence interval [CI], 2.13-14.5), congestive heart failure (OR, 2.97; 95% CI, 1.53-5.76), and pressure ulcers (OR, 2.93; 95% CI, 1.19-7.17) were independent risk factors for NFI. The number of invasive procedures preceding the febrile episode was a significant predictor of infection (OR, 3.68; 95% CI, 1.14-9.21). CONCLUSIONS: Nosocomial febrile illness is a common event in elderly hospitalized patients. In 74% of the patients with NFI, an infection is found. Measures to decrease infectious NFI in the elderly require a reduction in the number of invasive procedures.
The protein kinase PKR and the 2',5'-oligoadenylate (2-5A) synthetase are two interferon-induced and double-stranded RNA-activated enzymes which are implicated in the mechanism of action of interferon. Their distribution was undertaken here at the ultrastructural level by the immunogold procedure, following the use of specific monoclonal antibodies directed against PKR and 69- and 100-kDa forms of the 2-5A synthetase. These enzymes were detected as a pool of nonaggregated proteins scattered throughout the cell and as aggregates often associated with electron-dense doughnut-like structures showing a similar aspect whatever their subcellular localization: the cytoplasm, the nuclear envelope, and the nucleus. In general, the 2-5A synthetases were present in much more lower amounts than the PKR, probably due to the difficulty of detecting traces of proteins by electron microscopy. To circumvent this, we used a human lymphoblastoid cell line overexpressing the 69-kDa form of the 2-5A synthetase. In such cells, the synthetase was then clearly observed in both the cytoplasm and the nucleus; isolated or small clusters of gold particles were numerous in the cell mainly over the RNP fibrils of the interchromatin space, nucleolus, and ribosomes. Interestingly, gold particles were also found to be associated with the membranes of nuclear envelope and rough endoplasmic reticulum probably due to the myristilated motif of this form of 2-5A synthetase. Finally, intensely labeled electron-opaque dots sometimes associated with the nuclear pore complexes were present in the nucleus and in the cytoplasm of cells which might suggest their transport from the nucleus to the cytoplasm or reciprocally through the nuclear pore complexes. These observations indicate the wider distribution of the dsRNA-activated enzymes in the cell, thus pointing out their potential implication in as yet undetermined physiological function(s) necessary for various cellular metabolic reactions.
OBJECTIVE: To assess both the prevalence and the characteristics of motor disorders of the small bowel in patients with systemic sclerosis (SSc) and to investigate for an association between clinical manifestations in the upper intestinal tract, capillaroscopic features, esophageal motor impairment, and manometric evidence of motor disturbances. METHODS: Fasting and postprandial motor activity of the upper intestinal tract was studied in 17 consecutive patients with SSc (6 with and 11 without clinical manifestations of small bowel involvement) and 17 age- and sex-matched healthy control subjects. RESULTS: The prevalence of manometric evidence of intestinal involvement was as high as 88% in the SSc patients; normal motor activity was present in only 2 patients. The median values for duodenal and jejunal interdigestive phase III migrating motor complex duration, amplitude, and velocity and the postprandial motility index were therefore lower in SSc patients compared with controls. Our manometric findings indicated that there are both neuropathic and myopathic stages of upper intestinal tract dysfunction in SSc. Furthermore, no association could be found between the severity of the intestinal manometric abnormalities and clinical presentation, SSc subsets, disease score, capillaroscopic findings, or esophageal manometric impairment. CONCLUSION: We suggest that manometry of the upper intestinal tract may be useful in SSc patients with clinical manifestations in the small bowel (i.e., malabsorption syndrome or pseudoobstruction) in that it can be used to accurately evaluate both the nature and the severity of motor disturbances. Furthermore, this procedure can be used to assist in the selection of patients who may require octreotide therapy.
BACKGROUND: Langerhans cell histiocytosis is a rare disorder with a wide spectrum of diseases and various clinical behaviours. The prognosis depends on the patient's age at onset and the extension of the disease. Treatment is function of evolution and extension of the disease. CASE REPORT: We report one case of Langerhans cell histiocytosis in a 33-year-old woman with resistant vulvar involvement whose cutaneous lesions improved with thalidomide. Complete healing of the genital lesions occurred within 1 month, but the patient discontinued her treatment after 3 months because of somnolence. Recurrence of the symptoms was observed within 2 weeks without treatment, but complete control was obtained with reintroduction of thalidomide. No severe adverse effect was detected at electrophysiological and clinical examinations. CONCLUSION: The simplicity and the rapid effect of thalidomide on cutaneous lesions suggest that new clinical evaluation of this old drug that can also be used in some systemic disease might be of the value.
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PURPOSE: Upper-extremity thrombosis appears to be more frequent today, comprising about 2% of all deep venous limb thrombosis. Its severity depends on the type of possible complications, i.e., pulmonary embolism and post-thrombotic sequelae. In this retrospective series, we investigated both the predisposing factors and the evolution of upper-extremity deep venous thrombosis. METHODS: Forty-nine consecutive patients (24 men and 25 women, mean age 50.2 years) with upper extremity deep venous thrombosis documented by color Doppler ultrasonography (n = 47) or phlebography (n = 2) were included in the study. RESULTS: Clinical manifestations were mainly pain (81.6%) and edema (93.9%). Mean time between the onset of clinical signs and diagnosis was 7.2 days. Thrombosis involved humeral (26.5%), axillary (46.9%), subclavian (73.5%) and jugular (24.5%) veins. Causative factors were malignancies (32.7%), venous catheters (22.4%), deep venous thrombosis related to effort or thoracic outlet syndrome (22.5%) and thrombophilic states (8.2%). During the 6-month follow-up, six patients developed symptomatic pulmonary embolism (12.2%); one recurrence (2.2%) and 19 post-thrombotic sequelae such as residual edema (36.7%) were also observed. Initial therapy included heparin administration, principally subcutaneous low molecular weight heparins (n = 36/49). CONCLUSION: This series highlights the fact that upper-extremity deep venous thrombosis is mainly secondary to either malignancies or catheterization. Moreover, it confirms that color Doppler ultrasonography may be useful in the diagnosis of the disease and also underlines the high frequency of severe complications, i.e., pulmonary embolism and post-thrombotic sequelae. Finally, this study also demonstrates that low molecular weight heparins should be considered as the initial treatment of choice.
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