Search PubMed⌕ Search

Biomedical subjects

E Hachulla

Publications and source records attributed to E Hachulla.

At least 19 recordsLinked to original sources
PubMed2006

Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.

UNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance. OBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population. METHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA. RESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02). CONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc.

Adult↗
PubMed2006

[Protein-losing enteropathy revealing an idiopathic constrictive pericarditis].

INTRODUCTION: The cause of protein-losing enteropathy is sometimes difficult to establish. It can be rarely due to a constrictive pericarditis. EXEGESIS: We report a patient presenting a protein-losing enteropathy revealing a constrictive pericarditis. CONCLUSION: Chronic pericarditis should be evoked in case of unexplained protein-losing enteropathy. Echocardiography can sometimes be normal. Therefore, chest computed tomography scan or cardiac MRI followed by confirmation right heart catheterization should be performed in case of persistent unexplained protein-losing enteropathy.

Adult↗
PubMed2006

[Central retinal artery occlusion in Wegener'granulomatosis].

INTRODUCTION: Almost 50% of patients with Wegener's granulomatosis (WG) develop ocular features, leading to visual loss in 8%. However, central retinal artery occlusion (CRAO) has exceptionally been reported. EXEGESIS: We report 2 patients with CRAO and WG according to ACR classification criteria. A literature search indicates that CRAO with WG has only been reported in 15 patients. We analyse the 17 cases to discuss systemic manifestations, ocular prognosis and treatment. CONCLUSION: CRAO is a rare manifestation of WG. Nevertheless, CRAO seems to be associated with vasculitic type of WG. So, a prompt diagnosis could lead to early aggressive regimen to improve visual and general prognosis.

Aged↗
PubMed2006

[Economic evaluation of at home subcutaneous and intravenous immunoglobulin substitution].

BACKGROUND: Intravenous (IV) and subcutaneous (SC) immunoglobulin (Ig) administration is a safe and an efficacious treatment in patients with IgG deficiency. Home administration of IV Ig and SC Ig has recently been approved in France. Most of the patients treated in hospital ask for home treatment. Some patients prefer monthly IV administration, others weekly SC administration. MATERIAL AND METHODS: We evaluated in details the cost of both of these practices. We currently use electric pumps for both IV and SC administration which are fixed to the patient giving complete freedom and mobility. RESULTS: For 20 g administrated per 4 week, the total cost of home treatment is 1,518 euro with SC Ig and 1,033 euro with IV Ig. For 40 g administrated per 4 week, the total cost of home treatment is 2,507 euro to 2,729 euro with SC Ig and 2,034 euro with IV Ig. The difference is mainly explained by the cost of renting the electric pumps and by the cost of furniture for SC administration. The choice of home Ig substitution must be given to all patient receiving treatment in hospital. CONCLUSIONS: Home IV and home SC perfusions are two possible options each different with there own advantages and disadvantages. The cost of each procedure must be known by the medical staff.

Cost-Benefit Analysis↗
PubMed2006

[Cystic lung disease associated with Sjögren's syndrome: 2 cases].

INTRODUCTION: Cystic lung disease is characterised on chest iconography by foci of decreased lung density with definable and thinned walls (wall thickness<4 mm) and with length's diameter superior at 1 cm. Cystic lung disease is exceptionally associated with the Sjögren's syndrome; very few cases have been described. EXEGESIS: We report two cases of cystic lung disease associated with Sjögren's syndrome, one occurring in a Lupus-Sjögren's overlapping syndrome, and another revealing primary Sjögren's syndrome. CONCLUSION: The Sjögren's syndrome should be recognised as could be associated with Cystic lung disease; and latent Sjögren's syndrome should be researched in presence of cystic lung lesions.

Adrenal Cortex Hormones↗
PubMed2006

[18FDG PET: a new criterion for disease activity in Takayasu arteritis].

INTRODUCTION: Takayasu arteritis (TA) is an inflammatory arteritis affecting large vessels, predominantly the aorta, its main branches, and the pulmonary arteries. Up to now, arteriography was considered as the "gold standard". But others exams are emerging in the management of TA: vascular ultrasound, angio-scanner, magnetic resonance imaging and 18FDG positron emission tomography (18FDG PET). Such investigations allow a study of the lumen but also of the arterial walls. However, at the time, no biological or radiological test is able to determine the activity of TA. 18FDG PET could be effective to estimate the disease activity. EXEGESIS: We report the case of a young woman for who 18FDG PET permit to assert a relapse of TA. CONCLUSION: 18FDG PET could be effective to estimate the disease activity.

Adult↗
PubMed2005

[Calcific arteriolopathy (Calciphylaxis)].

PURPOSE: Calcific arteriolopathy (CA), also known as " Calciphylaxis " describes a phenomenon of necrosis, mainly cutaneous and sometimes systemic, due to the obliteration of the arteriole's lumen. Initially there are under-intimal calcium deposits, and then the thrombosis occurs leading to the necrosis. CA affects mainly the renal insufficient hemodialysed patient, but not exclusively. We present 4 cases which illustrate well the etiologic spectrum of CA: terminal renal insufficiency, neoplasia, primary hyperparathyroidism, proteinuria, vitamin K inhibitors. We describe the AC's epidemiology, its cutaneous and systemic clinical presentations, its treatment. We make the hypothesis that CA is a strong risk marker in matter of cardiac mortality and we discuss this point. CURRENT KNOWLEDGE AND KEY POINTS: In this article we describe the numerous breakthroughs that have been made in matter of research about calcification over the past few years: inhibitors of calcium phosphate deposition, vitamin D and PTH1R, protein-calcium complexes, cell death, induction of bone formation. These data are analysed from a clinical point of view with practical purposes. We present CA not only as a cutaneous disease but as a systemic pathology. FUTURE PROSPECTS AND PROJECTS: The CA epidemiology is an incentive to more diagnosis suspicion in front of organ infarct involving a patient likely to be concerned by CA. The scientific and therapeutic breakthroughs in matter of calcification enable a better prevention of the disease. Nevertheless it remains very difficult to cure when installed.

Aged↗
PubMed2005

[Dropped head syndrome: report of two cases].

PURPOSE: The dropped head syndrome is characterized by an abnormal bending of the head to the body, mainly affecting old people. It corresponds to an alteration of the cervical extensor muscles, revealing in some cases a neuromuscular disease. In some cases, the etiology of this syndrome remains unknown. EXEGESIS: We report here two cases with dropped head syndrome. The first clinical case concerned a 78-year old man, presenting a dropped head syndrome revealing a myasthenia. The syndrome disappeared with specific therapy. The second clinical case was a dropped head syndrome developed in the context of severe depressive syndrome in a 71-year old woman. The etiological screening did not reveal any underlying disease. Counteracting the syndrome was successfully obtained with early physiotherapy. CONCLUSION: The dropped head syndrome can reveal a general disease such as myasthenia or amyotrophic lateral sclerosis. Therefore, investigation needs first to eliminate underlying diseases. If no etiology is found, the dropped head syndrome is considered of an unknown neuromuscular origin or a psychosomatic disease. In this latter case, physiotherapy may be beneficial.

Aged↗
PubMed2005

No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome.

One-third of first-degree relatives of patients with primary Sjögren's syndrome (pSS) suffer from other autoimmune diseases, including type I diabetes, systemic lupus erythematosus and autoimmune thyroiditis. Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseases. We decided to investigate whether PTPN22 gene polymorphism was also involved in the genetic predisposition to pSS in a case-control study, including 183 patients with pSS and 172 healthy controls. No significant differences in allele (T allele frequency: 7.7% in patients with pSS vs 7.8% in controls, P=0.9) and genotype frequencies of PTPN22 polymorphism were detected between patients with pSS and controls. PTPN 22 gene polymorphism was not associated with a specific pattern of autoantibody secretion either. Thus, 1858 C/T polymorphism of PTPN22 gene is not involved in genetic predisposition to pSS.

Autoantibodies↗
PubMed2005

Molecular characterization of the idiopathic hypereosinophilic syndrome (HES) in 35 French patients with normal conventional cytogenetics.

Idiopathic hypereosinophilic syndrome (HES) characterized by unexplained and persistent hypereosinophilia is heterogeneous and comprises several entities: a myeloproliferative form where myeloid lineages are involved with the interstitial chromosome 4q12 deletion leading to fusion between FIP1L1 and PDGFRA genes, the latter acquiring increased tyrosine kinase activity. And a lymphocytic variant, where hypereosinophilia is secondary to a primitive T lymphoid disorder demonstrated by the presence of a circulating T-cell clone. We performed molecular characterization of HES in 35 patients with normal karyotype by conventional cytogenetic analysis. TCRgamma gene rearrangements suggesting T clonality were seen in 11 (31%) patients, and FIP1L1-PDGFRA by RT-PCR in six (17%) of 35 patients, who showed no evidence of T-cell clonality. An elevated serum tryptase level was observed in FIP1L1-PDGFRA-positive patients responding to imatinib, whereas serum IL-5 levels were not elevated in T-cell associated hypereosinophilia. Sequencing FIP1L1-PDGFRA revealed scattered breakpoints in FIP1L1-exons (10-13), whereas breakpoints were restricted to exon 12 of PDGFRA. In the 29 patients without FIP1L1-PDGFRA, no activating mutation of PDGFRA/PDGFRB was detected; however; one patient responded to imatinib. FISH analysis of the 4q12 deletion was concordant with FIP1L1-PDGFRA RT-PCR data. Further investigation of the nature of FIP1L1-PDGFRA affected cells will improve the classification of HES.

Adolescent↗
PubMed2004

Typical and atypical Cogan's syndrome: 32 cases and review of the literature.

OBJECTIVE: To report our experience on a multicentre series of 32 patients with either typical or atypical Cogan's syndrome, to combine our results with a detailed review of the literature, and to compare the clinical manifestations of typical and atypical Cogan's syndrome. METHODS: Patients were identified from a survey conducted with physicians affiliated to the French National Society for Internal Medicine, and were classified into typical or atypical Cogan's syndrome according to the Haynes criteria. Clinical data were collected in a standardized manner. A comprehensive literature review using the Medline database and the reference lists of identified articles was performed. RESULTS: Seventeen patients had typical Cogan's syndrome and 15 had atypical Cogan's syndrome. Apart from non-syphilitic interstitial keratitis, the ocular manifestations of patients with atypical Cogan's syndrome were mainly uveitis and episcleritis. All but one patient presented with Ménière-like syndrome, and at the end of follow-up 11 were deaf and 19 additional patients had developed a significant decrease in auditory acuity. Twenty-five patients (78%) developed systemic manifestations, including aortitis in four. Comparison of typical and atypical Cogan's syndrome showed that some systemic manifestations were more common in atypical Cogan's syndrome, but these differences may be explained by reporting bias in the literature. CONCLUSION: Differences regarding the associated systemic manifestations of typical and atypical Cogan's syndrome may reflect reporting bias in the literature. However, the diversity of the ocular and audiovestibular manifestations and the acceptable lengthy delay between the two types of involvement in atypical Cogan's syndrome should make one cautious before accepting this diagnosis as the diagnosis may mimic various other systemic diseases.

Adolescent↗
PubMed2004

Digital ulcers in systemic sclerosis: prevention by treatment with bosentan, an oral endothelin receptor antagonist.

OBJECTIVE: Recurrent digital ulcers are a manifestation of vascular disease in patients with systemic sclerosis (SSc; scleroderma) and lead to pain, impaired function, and tissue loss. We investigated whether treatment with the endothelin receptor antagonist, bosentan, decreased the development of new digital ulcers in patients with SSc. METHODS: This was a randomized, prospective, placebo-controlled, double-blind study of 122 patients at 17 centers in Europe and North America, evaluating the effect of treatment on prevention of digital ulcers. The primary outcome variable was the number of new digital ulcers developing during the 16-week study period. Secondary assessments included healing of existing digital ulcers and evaluation of hand function using the Scleroderma Health Assessment Questionnaire. RESULTS: Patients receiving bosentan had a 48% reduction in the mean number of new ulcers during the treatment period (1.4 versus 2.7 new ulcers; P = 0.0083). Patients who had digital ulcers at the time of entry in the study were at higher risk for the development of new ulcers; in this subgroup the mean number of new ulcers was reduced from 3.6 to 1.8 (P = 0.0075). In patients receiving bosentan, a statistically significant improvement in hand function was observed. There was no difference between treatment groups in the healing of existing ulcers. Serum transaminase levels were elevated to >3-fold the upper limit of normal in bosentan-treated patients; this elevation is comparable with that observed in previous studies of this agent. Other side effects were similar in the 2 treatment groups. CONCLUSION: Endothelins may play an important role in the pathogenesis of vascular disease in patients with SSc. Treatment with the endothelin receptor antagonist bosentan may be effective in preventing new digital ulcers and improving hand function in patients with SSc.

Activities of Daily Living↗
PubMed2004

[Influence of hypergammaglobulinemia on antiphospholipid antibodies titres].

PURPOSE: Antiphospholipid antibodies (aPL), anticardiolipin antibodies (aCL) or lupus anticoagulant (LA), are indispensable for the diagnosis of antiphospholipid syndrome (APS). However, antiphospholipid assays can generate false positive results. MATERIALS: We have studied the influence of hypergammaglobulinemia (HG) on aPL antibodies titers in 232 patients twice as positive for aPL antibodies. RESULTS: Out of 232 patients, 93 have an APS (76 primary APS, 17 secondary APS). Thrombosis occurred 138 times in APS patients. Of 139 patients without APS, 95 have an auto-immune disease, 28 have an isolated prolonged KCT and 16 an evolutive neoplasia. LA seems to be the best marker of APS. On the other hand aCL IgG and M, anti-beta2-GP1 IgM titers are significantly higher in patients without APS but with HG. CONCLUSION: Those results suggest that biological APS diagnosis should be carefully performed in patients with HG. In this case, other additional risk factors must be considered for the etiological diagnosis of thrombosis.

Adult↗
PubMed2004

[Polymyositis induced or associated with lipid-lowering drugs: five cases].

PURPOSE: Rhabdomyolysis and myositis are rare, dose-related complications of statins and fenofibrates. The outcome is favorable as a rule with rapid regression after stopping the responsible drug. Recently, various auto-immune disease with evidence of hypersensitivity to HMG-CoA reductase inhibitors or fibrates drugs have been reported. Less than ten cases of dermatomyositis and polymyositis due to cholesterol-lowering drugs (CLD) have been previously reported. Five more cases polymyositis associated with CLD are reported. METHODS: Symptoms were compatible with diagnosis of polymyositis according to Bohan and Peter and with previous reported criteria for drug-induced myopathy in all cases. None of these patients had previous other connective tissue disorders. RESULTS: Five patients (median age 68 [54-78], female N =4) with CLD treatment (statin N =4, fenofibrates N =1) have developed iatrogenic polymyositis. All of them presented both proximal muscular weakness and increased muscle enzyme levels. One patient had iatrogenic antisynthetase syndrome characterized by mechanic's hand, Raynaud's phenomenon and anti JO1 antibodies. One other had sclerodermic hand oedema. Antinuclear antibodies were positive in 4 cases and muscle biopsy revealed polymyositis infiltrate in 4 cases. CLD treatment was discontinued with partial clinical improvement in 3 cases. Clinical remission was obtained with corticosteroid (N =5) in association with immunosuppresive agents in 3 cases. CONCLUSION: Muscular symptoms in patient with CLD treatment could be the first symptom of a polymyositis revealed or increased by this treatment and must encourage physician with antinuclear antibodies screening especially in case of proximal muscular weakness and increased muscle enzyme levels.

Aged↗
PubMed2004

[Nuclear auto-antibodies: a useful tool for the diagnosis, the classification and the prognosis of systemic sclerosis].

PURPOSE: Systemic sclerosis (SSc) like other connective tissue diseases is characterized by the occurrence of antinuclear auto-antibodies (ANA). We reviewed the diagnostic value and prognostic value of ANA in SSc. CURRENT KNOWLEDGE AND KEY POINTS: LeRoy proposed new criteria of limited forms of SSc which take into account the immunological profile of the patients. Anticentromere, antitopoisomerase I, antifibrillarin, anti-PM-Scl, antifibrillin or anti-RNA-polymerase I or III are considered as specific anti-autobodies. Whereas anticentromere antibodies are more associated with limited SSc and antitopoisomerase I with diffuse SSc, other auto-antibodies were associated with other organ involvement : anti-RNA-polymerase I or III and renal crisis, anti-U1-RNP and pulmonary hypertension and pulmonary fibrosis, etc. Patient with persistent antitopoisomerase I antibodies have a poor survival, those with antitopoisomerase antibodies that disappear with time have a better prognosis. FUTURE PROSPECTS AND PROJECTS: A better identification of the patients with SSc, an individual biological profile and organ involvement may help better management of the disease and better access to clinical trials. The development of new immunological tests and their clinical application should help us in that way.

Antibodies, Antinuclear↗