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David Launay

Publications and source records attributed to David Launay.

14 recordsLinked to original sources
PubMed2006

Recovery from deafness in a patient with Muckle-Wells syndrome treated with anakinra.

Muckle-Wells syndrome (MWS) is a dominantly inherited autoinflammatory disease characterized by rashes, fever, arthralgia, sensorineural deafness, and the possible development of systemic AA amyloidosis. We used anakinra to treat a 22-year-old patient with MWS who had deafness and a high serum level of C-reactive protein (CRP). Following treatment with anakinra, the patient's CRP level normalized, and she recovered from deafness. The fact that this occurrence has never been previously reported strengthens the role of anakinra in MWS but also raises new questions about the physiopathology of such deafness.

Adult↗
PubMed2006

[Bosentan for treatment of active digital ulcers in patients with systemic sclerosis].

OBJECTIVES: To describe the effect of bosentan and its dual inhibition of endothelin-1 ETA and ETB receptors on digital ulcers in patients with systemic sclerosis (SSc). METHODS: Patients receiving bosentan for SSc-related digital ulcers were identified in eight centers, and their characteristics and follow-up were recorded. RESULTS: Nine (six with diffuse and three with limited cutaneous forms of SSc) patients (median age: 54 years) had received bosentan for digital ulcers. Complete healing occurred in seven (median time to improvement: 4 weeks). Another experienced a significant decrease in the number of ulcers (from 22 to 5) in 8 weeks, while one had no improvement. After a median follow-up of 24.3 months, only one recurrence was observed. Raynaud phenomenon improved in all but one patient. DISCUSSION: These data suggest that some patients may benefit from bosentan to treat digital ulcers. The short time to healing in these patients with rather chronic ulcers argues strongly in favor of its use. These results also strengthen the evidence that endothelin-1 plays an important role in the vascular manifestations of SSc. CONCLUSION: Bosentan can be effective in the treatment of digital ulcers in some SSc patients with SSc, probably especially those involving substantial ischemia. Bosentan is not a first-line drug in this indication yet and must be carefully used by specialists in SSc. Forthcoming results from the international RAPIDS-2 study should clarify the indications for bosentan in the treatment of SSc-related digital ulcers.

Adult↗
PubMed2006

[Takayasu arteritis].

Takayasu arteritis is an inflammatory arteritis affecting large vessels, predominantly the aorta and its main branches. Thickening of the vessel wall is an early hallmark of the disease and leads to stenosis, thrombosis, and sometimes aneurysm formation. Reported incidence ranges from 1.2 to 2.6/million/year. Women aged 20 to 40 are most likely to suffer from the disease than men. Manifestations are very polymorphous, with presentations ranging from asymptomatic to neurologic catastrophes. Prognosis depends essentially on complications (retinopathy, hypertension, aneurysm, aortic insufficiency) and initial disease aggressivity. Diagnosis is based on imaging methods. Doppler ultrasound, computed tomography, and magnetic resonance imaging are fast and reliable methods for assessing vessel anatomy and luminal status. Positron emission tomography with fluorodeoxyglucose appears to be a highly sensitive and effective method for detecting disease activity, especially since standard inflammatory markers seem ineffective. Until now, corticosteroids have been the treatment of choice. If remission does not occur, methotrexate is added. Percutaneous transluminal angioplasty and sometimes vascular surgery is necessary in cases of critical ischemia or threatening aneurysm. Duration of treatment, choice of second-line treatment, and protocol for tapering medication currently depend more on experience than on evidence-based medicine. Multicenter studies are needed to guide future practice.

Diagnosis, Differential↗
PubMed2006

[Pulmonary arterial hypertension and systemic sclerosis].

Pulmonary arterial hypertension (PAH) is a serious complication of systemic sclerosis (SSc) and a leading cause of death in patients with it. Recent publications suggest that a prevalence of 10-15% is likely. The prognosis remains poor compared to that of idiopathic PAH. WHO recommends annual echocardiography for PAH screening of patients with SSc. Right heart catheterization is necessary to confirm the diagnosis. Nevertheless, more than half of all SSc patients have symptoms classified as WHO functional class III or IV at diagnosis. Prostacyclin therapy, delivered via continuous intravenous infusion (epoprostenol), has been demonstrated to be effective in patients with severe PAH (both idiopathic and scleroderma-related). Prostacyclin analogs (such as treprostinil and iloprost) are other options. Bosentan is the first endothelin receptor antagonist approved in the EU for the treatment of PAH, both idiopathic and related to connective tissue diseases such as scleroderma, in patients in WHO functional class III. Sildenafil by its selective inhibition of phosphodiesterase type 5 is also effective against both types of PAH. It too is now approved in the EU for this purpose in patients in WHO functional class III, but we do not yet have any information about its long-term effects in scleroderma.

Algorithms↗
PubMed2006

High resolution computed tomography in fibrosing alveolitis associated with systemic sclerosis.

OBJECTIVE: To investigate the use of high resolution computed tomography (HRCT) in diagnosis of patients with fibrosing alveolitis associated with systemic sclerosis (FA-SSc), and to determine predictors of disease progression. METHODS: We retrospectively studied 90 patients with SSc who had undergone an initial (Time 1) and followup (Time 2) clinical and HRCT evaluation, with a mean +/- SD interval of 5.14 +/- 2.98 years between T1 and T2. RESULTS: At T1, HRCT was normal in 40 patients; at T2, 34/40 (85%) continued to have a normal HRCT. For the 50 patients with FA-SSc on HRCT scan at T1, the overall disease progression comprised extension of lung changes toward the apices with worsening of lung fibrosis at T2. Among the 37 patients who had areas of isolated ground-glass opacities at T1, 25 (68%) had progression of lung fibrosis at T2. These 25 patients were mostly men, who showed a more marked decrease of diffusing capacity and a longer interval between T1 and T2. CONCLUSION: The results emphasize the good longterm prognosis indicated by a normal initial HRCT in SSc. Patients with FA-SSc with abnormal HRCT experienced progressive replacement of ground-glass opacities by honeycombing and/or traction bronchiectasis/bronchiolectasis. Ground-glass opacity is probably the first step of lung fibrosis in SSc, and treatment should be discussed even at this early stage.

Adult↗
PubMed2005

Early detection of pulmonary arterial hypertension in systemic sclerosis: a French nationwide prospective multicenter study.

OBJECTIVE: Screening allows for early management of pulmonary arterial hypertension (PAH), a severe complication of systemic sclerosis (SSc). Since no consensus has been reached on the method and criteria for optimal screening, we sought to develop an algorithm based on symptoms, Doppler echocardiography, and right heart catheterization (RHC) for application to a nationwide multicenter SSc population in France. METHODS: This prospective study was conducted from September 2002 to July 2003 by experts at 21 SSc centers. At each center, SSc patients without severe pulmonary function abnormalities underwent Doppler echocardiography by an experienced cardiologist. Patients with a peak velocity of tricuspid regurgitation (VTR) of >3 meters/second or 2.5-3 meters/second with unexplained dyspnea were asked to undergo RHC to confirm PAH according to international guidelines. RESULTS: Of the 599 patients analyzed, 29 had known PAH and 33 had suspected PAH, based on Doppler echocardiography, and underwent RHC. Of these 33, 18 were found to have PAH, 3 had left ventricular dysfunction, and 12 had no PAH. Newly diagnosed cases of PAH were of mild severity (mean +/- SD pulmonary artery pressure [mPAP] 30 +/- 9 mm Hg, mean +/- SD total pulmonary resistance [TPR] 524 +/- 382 dynes x second/cm(5)). Hemodynamic findings in patients with known PAH were mPAP 49 +/- 17 mm Hg and TPR 1,007 +/- 615 dynes x second/cm(5). The estimate of PAH prevalence was 7.85% (95% confidence interval 5.70-10.00). CONCLUSION: This screening algorithm, based on dyspnea, Doppler echocardiographic evaluation of VTR, and RHC, enabled early detection of PAH at a mild stage. Whether mild PAH will evolve to severe PAH in reported cases and whether this early diagnosis translates into improved prognosis for patients with mild PAH will be evaluated in the ongoing 3-year followup of this cohort.

Adult↗
PubMed2004

[Inflammatory aortitis].

PRINCIPLE AND OTHER CAUSES: Takayasu's arteritis, giant cell arteritis and Behçet's disease are the three main causes of inflammatory aortitis. More rarely, aortitis can be observed in Cogan's syndrome, atrophic polychondritis, sarcoidosis, ankylosing spondylitis and in rheumatoid arthritis. RISKS OF PROGRESSION: Takayasu's arteritis is distinct with the development of stenotic lesions of the aorta. With the other causes, aortitis can be complicated by ectasia or even aneurysm, with the risk of rupture. Indeed, during giant cell arteritis, patients are 17 times more likely to develop thoracic aortic aneurysm. Aortic regurgitation is a frequent complication of inflammatory aortitis. Sometimes, aortitis is only manifested by general signs such as fever or an inflammatory syndrome. SUPPLEMENTARY EXPLORATIONS: Recent advances in diagnosis and follow-up of patients with inflammatory aortitis concern the use of non-invasive imaging techniques: Doppler ultrasonography, computed tomography with injection of a contrast product and magnetic resonance imaging, which currently replace the aortography. DIAGNOSTIC PROBLEMS: Infectious aortitis, inflammatory atheromatous aneurysm and retroperitoneal fibrosis are sometimes misleading differential diagnoses.

Aortitis↗
PubMed2004

Association between systemic sclerosis and breast cancer: eight new cases and review of the literature.

Several studies have demonstrated an increased frequency of cancer in patients with systemic sclerosis (SSc), specially lung and breast cancers. The pathogenesis of the association between SSc and cancer is not fully established. The aim of this study was to describe new cases of the association between SSc and breast cancer and to perform a review of the literature. We retrospectively studied the medical files of eight patients followed in our institution for SSc and breast cancer. We analyzed them with data available in the literature for a total of 46 patients. Cutaneous extension of SSc was clearly mentioned in 17 cases: the SSc was limited in 10 cases and diffuse in 7 cases The median age at the diagnosis of cancer was 54 years (range: 40-71). The median duration between SSc onset and breast cancer diagnosis was 11.5 months (range: 0-288). The duration between SSc onset and breast cancer diagnosis was < or = 12 months in 27 of 44 patients (61.4%), and in 11 (25%) of them the diagnosis of both diseases was made simultaneously. It was clearly mentioned for 35 patients whether the diagnosis of breast cancer was made before or after the onset of SSc. The diagnosis of breast cancer was made before SSc onset in 17 of 35 patients (48.6%) and after SSc onset in 18 of 35 patients (51.4%). For 33 patients, the follow-up was available: 18 (54.5%) died, 11 (33.3%) of them within the 1st year after the diagnosis of the cancer. For none of the patients did the anticancer treatment improve the SSc. The close temporal relationship between SSc onset and breast cancer diagnosis is highly suggestive of a pathophysiological link. SSc is probably not a paraneoplastic disease since the anticancer treatment has no influence on the evolution of SSc. However, it can be suggested that SSc could be a disease facilitating breast cancer and/or metastases development.

Adult↗
PubMed2004

Multiplex reverse transcription polymerase chain reaction assessment of sialyltransferase expression in peripheral blood mononuclear cells in systemic sclerosis.

OBJECTIVE: To assess sialyltransferase expression in peripheral blood mononuclear cells (PBMC) of patients with systemic sclerosis (SSc) and to correlate this expression with the clinical features of the disease. METHODS: Using a multiplex reverse transcription polymerase chain reaction (RT-PCR) method, we simultaneously measured the expression of 5 sialyltransferases (ST3Gal IV, ST3Gal III, ST3Gal I, ST3Gal II, and ST6Gal I) and of one reference housekeeping gene, Tata box binding protein (TBP), in PBMC of 28 patients with SSc and 18 healthy controls. Expression of each sialyltransferase was defined by the ratio sialyltransferase amplification product intensity/TBP amplification product intensity, and was evaluated according to the skin sclerosis extension and the presence of lung fibrosis and/or of pulmonary hypertension. RESULTS: ST3Gal I and ST6Gal I expressions were lower in patients with SSc than in healthy controls (median 0.48 vs 1.30, p < 0.0001, and 0.71 vs 1.96, p < 0.01, respectively). No difference was observed for ST3Gal III and ST3Gal IV expression. ST3Gal IV/ST6Gal I ratio was higher in SSc patients than in controls (0.37 vs 0.28, p = 0.03). ST3Gal II was either weakly or more often not expressed in both groups. Ten patients had isolated pulmonary hypertension. They had higher ST3Gal IV expression than patients without pulmonary hypertension (0.73 vs 0.29, p = 0.04) and a higher ST3Gal IV/ST6Gal I ratio than patients without pulmonary hypertension (1.03 vs 0.27, p = 0.03) and controls (1.03 vs 0.28, p = 0.02). No difference was found in the sialyltransferase expression and soluble E-selectin concentration according to the cutaneous sclerosis extension or the presence of lung fibrosis. CONCLUSION: Sialyltransferase expression is modified in PBMC of patients with SSc compared to healthy subjects. Low ST6Gal I expression associated with normal ST3Gal IV expression, resulting in a higher ST3Gal IV/ST6Gal I ratio, suggests an enhanced expression of Sialyl-LewisX at the surface of PBMC in SSc, and therefore an active interaction between activated endothelial cells and PBMC through the binding between E-selectin and Sialyl-LewisX. This suggested that higher expression of Sialyl-LewisX concerned patients with isolated pulmonary hypertension more specifically. Binding between PBMC surface Sialyl-LewisX and activated endothelial cell E-selectin might therefore play a role in the pathogenesis of SSc-related isolated pulmonary hypertension.

Adult↗
PubMed2002

[Cardiac and pulmonary involvement in scleroderma].

Systemic sclerosis is a connective tissue disease characterised by microvascular involvement and fibrosis affecting skin, lung, heart and intestinal tract. Sixty percent of deaths are secondary to heart or lung involvement and (or) to pulmonary hypertension. Clinical expression of these complications is present only in patients with the most severe problems. Therefore, it is appropriate to systematically and repeatedly look for these complications, even in asymptomatic patients. Heart involvement can present as cardiomyopathy, pericarditis, conduction or repolarisation abnormalities and arrhythmia, sometimes leading to sudden death. Pulmonary hypertension is due either to direct involvement of pulmonary arteries or is secondary to lung fibrosis. Doppler echocardiography and lung function tests are systematically and repeatedly proposed to screen patients for pulmonary hypertension at initial diagnosis and during follow-up. Right heart catheterisation ascertains the diagnosis of pulmonary hypertension. Chronic pulmonary interstitial fibrosis is the most frequent manifestation of lung involvement. High resolution computed tomography is the method of choice to make the diagnosis and to assess the severity of the lesions. Treatment is not completely standardised. However, a severe and rapidly progressing lung involvement is probably a good indication of immunosuppressive agents, such as cyclophosphamide.

Diagnosis, Differential↗
PubMed2002

Presence of microchimerism in labial salivary glands in systemic sclerosis but not in Sjögren's syndrome.

OBJECTIVE: To determine whether microchimerism can be implicated in Sjögren's syndrome (SS) by studying minor salivary glands, one of the targets of the disease. METHODS: Labial salivary gland (LSG) biopsy specimens from 16 female patients with primary SS and 11 with systemic sclerosis (SSc) (a disease in which microchimerism is frequently detected) were analyzed. All 27 women had a history of pregnancy with a male baby. Specimens were microdissected, and polymerase chain reaction (PCR) was performed using the unique sex-determining region Y gene probe. RESULTS: The sensitivity of PCR for detecting male cells in LSG was high; the presence of 3 male cells was consistently detected in DNA extracted from a normal female LSG specimen to which male DNA had been added, and 1 male cell was detected in 50% of specimens analyzed. Male DNA was not found in any of the specimens from the 16 SS patients but was detected in 5 (45%) of 11 SSc specimens (P = 0.006). No differences in the rate of detection were found between patients with diffuse and limited SSc (male DNA detected in 2 of 3 and 3 of 8, respectively; P = 0.55) or between patients with and those without secondary SS (1 of 6 and 4 of 5, respectively; P = 0.08). CONCLUSION: The results of our study strengthen the possibility that microchimerism is implicated in SSc. This is the first study to demonstrate the presence of chimeric cells in LSG from 45% of SSc patients, independent of the presence of secondary SS. However, microchimerism was not detected in LSG from patients with primary SS, suggesting that the pathogenesis of the 2 diseases is different.

Adult↗
PubMed2002

Sausage-like toe and heel pain: value for diagnosing and evaluating the severity of spondyloarthropathies defined by Amor's criteria. A retrospective study in 161 patients.

AIM: To evaluate the frequency of sausage-like toe and talalgia in spondyloarthropathies diagnosed by the 12 items of Amor's criteria; to study the frequency of a diagnosis which would be impossible without these two symptoms; and to study the correlations between Amor's criteria score and the clinical and biological symptoms in the presence of both of these. METHODS: Retrospective study of 161 cases (age, 38.8 +/- 13.1 years; duration, 7.12 +/- 7.3 years; HLA B27, 112). Peripheral involvement is observed in 89 cases (52 cases of pure peripheral form). RESULTS: Eighty cases (group N1) experience talalgia and/or sausage-like toe and 80 do not (group N2). Talalgia concerns 68 patients (42.2%) and sausage-like toe 37 (23.3%); both signs are present in 18. Age, duration, morning stiffness, SR, CRP are similar in both groups. Ankle involvement and oligoarthritis are significantly more frequent in group N1. In 17 cases the presence of talalgia or sausage-like toe are indispensable to the diagnosis (10.6%): 11 undetermined spondyloarthropathies, six psoriatic arthritis. In the N1 group, a positive correlation is present between the score of the 12 items and, respectively, morning stiffness (+ 0.69; P = 0.0001), SR (+ 0.6; P = 0.001 8), CRP (+ 0.59; P = 0.001 8) in patients with sausage-like toe, probably because of the associated oligoarthritis, but neither in patients with talalgia (N1) nor in patients of the group N2. CONCLUSION: Talalgia and sausage-like toe are present respectively in 42.2 and 23.6% of spondyloarthropathies and are indispensable to the diagnosis using Amor's criteria in 10.6% of cases. The sausage-like toe would indicate a more severe spondyloarthopathy because of the synovitis, even though talalgia (pure enthesopathy) does not reflect the inflammatory process.

Adolescent↗