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Biomedical subjects

A Le Quellec

Publications and source records attributed to A Le Quellec.

At least 19 recordsLinked to original sources
PubMed2007

Autoinflammatory gene mutations in Behçet's disease.

BACKGROUND: Behçet's disease (BD) shares clinical features with well-recognised autoinflammatory disorders. In addition, mutations in genes for familial Mediterranean fever and tumour necrosis factor receptor-associated periodic syndrome have been reported to have increased in patients with BD. PATIENTS AND METHODS: DNA samples from 97 patients with BD and 51 matched healthy controls were analysed for the mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1) and proline/serine/threonine phosphatase-interacting protein 1 (PSTPIP1) genes, responsible for mevalonate kinase deficiency (MKD), cryopyrin associated periodic syndromes (CAPS) and pyogenic sterile arthritis, pyoderma gangrenosum and acne (PAPA) syndrome, respectively. Over 90% of known mutations were screened using restriction fragment length polymorphism analysis and/or sequencing. RESULTS: Two patients had paired mutations in the MVK gene (genotypes V377I/V377I and V377I/S135L) and displayed typical features of BD and MKD. Another was heterozygotic for the V377I genotype. The V198M mutation in the CIAS1 gene was identified in one patient with typical BD but no symptoms of CAPS. No mutations were identified in the control group. PSTPIP1 analysis revealed a new exon 10 insertion variant (c.741+33_741+34insGT) in 2 of 97 patients and in 1 of 51 controls (p>0.05), indicating that it is a polymorphism rather than a true mutation. DISCUSSION: This study could not demonstrate any significant increases in MVK, CIAS1 or PSTPIP1 mutations in patients with BD as compared with controls.

Adaptor Proteins, Signal Transducing↗
PubMed2006

[Evolution and prognosis of adult onset Still's disease. A monocentric study of 17 patients].

UNLABELLED: Adult-Onset Still's disease (AOSD) is a rare condition of unknown origin with various presentations and unpredictable outcome. The aim of this study was to analyse clinical and biological presentation, and outcome of patients admitted to an internal medicine service. METHOD: A retrospective cohort design with prospective follow-up was used. All the patients admitted to our internal medicine service for AOSD between January 1998 and March 2004 were included. RESULTS: According to Yamaguchi's classification criteria, 17 patients were analysed with a mean age at onset of 37.3 years and a 2.4 sex-ratio (female/male). Mean follow-up length was 52.1 months. Eight patients developed a monocyclic systemic form, 8 a polycyclic systemic form and 1 a chronic articular form. Arthralgia (87%) and arthritis (53%) were less frequent than in other series. Sixteen patients were treated: 14 by corticosteroids, 6 by non-steroid anti-inflammatory drugs, 5 by methotrexate, 2 intravenous polyglobulin and one by anti-TNF drug. Patients with a corticodependant or corticoresistant form had more polyarthritis at the onset of the disease (3/6 vs 0/11, P=0.029). DISCUSSION: In internal medicine activity, AOSD without oligo- or polyarthritis may be more frequent than expected according to the literature. Corticotherapy alone is often efficient in these AOSD form without synovitis, and methotrexate use is uncommon.

Adolescent↗
PubMed2006

A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.

BACKGROUND: The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ethnic background or clinical criteria. Genetic diagnosis for other hereditary periodic fever syndromes has been poorly evaluated. OBJECTIVE: To determine the diagnostic contribution of genetic tests for hereditary periodic syndromes in a large, unselected series of patients. METHODS: A retrospective study was conducted on 1941 patients referred to us for FMF genetic tests between 1997 and 2005. MEFV genotypes were compared with clinical data to appraise criteria for FMF diagnosis. Genetic tests for tumour necrosis factor receptor-associated periodic syndrome (TRAPS), hyperimmunoglobulinaemia D syndrome (HIDS) and cryopyrin-associated periodic syndromes (CAPS) were also reviewed. RESULTS: 71% of the 1574 patients with enough data had a clinical diagnosis of FMF according to the widely used Israeli criteria. Two MEFV mutations were found in only 409 patients of this subgroup (sensitivity = 37%) and in 15 (3.3%) of the patients with an improbable clinical diagnosis of FMF (specificity = 97%). Molecular diagnosis for alternate hereditary periodic syndromes was carried out in 456 of the patients having a non-conclusive FMF genetic test. A positive diagnosis was obtained in 31 of these patients (TRAPS (n = 19), HIDS (n = 4) and CAPS (n = 8)). CONCLUSIONS: First-line MEFV mutation screening in patients with clinically typical FMF may be appropriate only in particular areas. To optimise genetic diagnosis, we propose a decision tree, which, with the advice of an expert practitioner, could help redirect test indications towards non-FMF hereditary periodic syndromes.

Adolescent↗
PubMed2004

[Incidence and presentation of the central neurological manifestations of Wegener's granulomatosis: a monocentric study of 14 cases].

PURPOSE: Central nervous system manifestations are rare clinical features of Wegener's granulomatosis, and occur in 4-8% of the patients, but few studies were dedicated to them. METHODS: This retrospective study (1988-2001) include 14 consecutive patients suffering from Wegener's granulomatosis. Involvement of central nervous system was defined as follows: suggestive neurological signs, compatible cerebral imaging, efficacy of the specific treatment of the granulomatosis. RESULTS: Four patients had a central nervous system manifestation (29%), including three women (average age 51 years). The signs were inaugural in a case. The manifestations were the following: sensibility disturbance (three cases), motor weakness (two cases), aphasia (one case), and mood disorders (two cases). Cranial nerves were constantly involved. Cerebral magnetic resonance imaging findings were: pachymeningitis and venous thrombosis (one case), vasculitis (two cases). Under steroid therapy associated with cyclophosphamide, in spite of a recurrence at 27 months in one patient, all patients had a complete remission. There was no death, with a median follow-up of 66 months. Except the ocular signs, that were more common (three cases), these patients had the usual characteristics of the Wegener's granulomatosis: rhinosinusitis (four cases), pulmonary (three cases), renal (three cases), and peripheral nervous system involvement (three cases). CONCLUSIONS: Our study, based on precise criteria, indicates that the frequency of the central neurologic manifestations of Wegener's granulomatosis is probably under estimated. Cranial nerves involvement is highly evocative. The long-term prognosis seems good, in spite of the associated multivisceral disorder.

Adult↗
PubMed2001

[HIV-associated myelopathy: an uncommon indicator of AIDS].

INTRODUCTION: Spinal cord lesions are an uncommon mode of discovering acquired immunodeficiency syndrome because they usually appear at a later stage. EXEGESIS: We report a 58-year-old patient who had a spastic paraparesia and sphincter dysfunction. The spinal cord magnetic resonance imaging showed spontaneous hypersignals on T2-weighted images at the cervical and thoracic levels, enhanced with gadolinium, and without swelling. No cause was found. The HIV serology was positive and allowed us to consider an HIV-associated myelopathy. The antiretroviral therapy led to functional recovery. CONCLUSION: An HIV serology is suggested whenever an unexplained intramedullary lesion is discovered. Indeed, the diagnosis of HIV-associated myelopathy implies a specific therapeutic approach.

Diagnosis, Differential↗
PubMed2000

[Headache as an indicator of systemic disease].

Headaches can constitute a direct symptom and possibly the preliminary symptom of several autoimmune diseases and systemic vasculitis. In the majority of cases, the characteristics of the headache are not on their own sufficient to establish a certain diagnosis, which has to be based on the clinical context and on other migraine-associated signs. In practice, three main categories of headache can be indicative of systemic disease: craniofacial pain; migraine and pseudo-migraine; and headache caused by intracranial hypertension.

Autoimmune Diseases↗
PubMed2000

[Headache due to temporal arteritis].

Pain associated with geant cell arteritis (GCA) is typically continuous, with exacerbations that often occur at night. Contact is painful and can precipitate an exacerbation of pain lasting several hours. The superficial temporal artery is the most common target of GCA but symptoms vary according to the predominant site of arterial inflammation. As a result, GCA can present in different ways with headaches being mild or absent in some patients. In nearly 40% of patients with biopsy-documented GCA, palpation of the branches of the external carotid artery fails to demonstrate any abnormalities. This arteritis affects the aortic arch and all its branches giving rise to a broad range of neurologic symptoms, for example, ocular disease, ischemic stroke, aortic dissection, etc. About 30% of patients also have symptoms of polymyalgia rheumatica. Demonstration of an inflammatory syndrome is important and temporal artery biopsy is the last element of the diagnostic. In some locations of the GCA angiography is useful. Treatment, commonly including corticosteroids, should be initiated as early as possible. Prevention of osteoporosis should be initiated especially in elderly subjects. In some cases other treatments are useful anticoagulants, immunosuppressive therapies, dapsone.

Diagnosis, Differential↗
PubMed1998

Circulating oxyntomodulin-like immunoreactivity in healthy children and children with celiac disease.

BACKGROUND: The aim of the study was to evaluate the new hormonal entity oxyntomodulin-like immunoreactivity in malabsorption states, and to assess its potential in celiac disease management. METHODS: We measured basal and postprandial oxyntomodulin-like immunoreactivity values in 35 children divided into 3 groups: group 1 was composed of 13 children with celiac disease, either under a gluten-free diet (8 patients) or normal diet (5 patients); group 2 was composed of 8 children hospitalized for gastroenteritis or chronic diarrhea, without biological evidence of malabsorption nor abnormal jejunal mucosa; group 3 was composed of 22 control subjects. RESULTS: Fasting and meal-stimulated levels in the control group were 71+/-10 and 130+/-26 pmol/l, respectively. Mean concentrations were elevated in patients with celiac disease (basal = 349+/-254 pmol/l, postprandial = 446+/-332 pmol/l) and in the group 2 (basal = 139+/-58 pmol/l, postprandial = 218+/-85 pmol/l), but the difference with control subjects did not reach statistical significance. In children with celiac disease, basal and stimulated values correlated with the degree of malabsorption as assessed by hemoglobin (p = 0.006 and p = 0.01, respectively) and serum folate concentrations (p = 0.03 and p = 0.02, respectively). CONCLUSIONS: Oxyntomodulin-like immunoreactivity is noticeably higher in healthy children than previously measured in healthy adult subjects. This hormonal parameter is not an adequate diagnostic tool in celiac disease. Nevertheless, in the context of celiac disease, its elevation reflects the degree of malabsorption and may provide a quantitative approach of the extent of mucosal damage.

Biomarkers↗
PubMed1998

Distribution of HLA-DRB1 alleles of patients with polymyalgia rheumatica and giant cell arteritis in a Mediterranean population.

OBJECTIVE: To evaluate HLA-DRB1 associations in polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) compared to rheumatoid arthritis (RA). METHODS: One hundred twenty-one patients were included and oligotyped: 79 with PMR alone and 42 with GCA (14 also had PMR). We also genotyped 1609 healthy controls and 433 patients with RA. Statistical analysis included Fisher's exact test and calculation of the odds ratio (95% CI). RESULTS: Compared to controls, the DRB1*04 phenotype was increased in PMR (39.2%; OR = 2.4, p = 0.0005) and GCA (45.2%; OR = 3.1, p = 0.0005). This association was weaker than in RA (p = 0.01). DRB1*07 was more frequent in GCA (31.0%) than in PMR (13.4%; p = 0.03), but the difference was not significant in comparison to controls. The distribution of DRB1*04 subtypes was similar in PMR and GCA, but different from RA and controls. However, the frequency of 0402 and 0403 subtypes could not be distinguished from that in patients with RA. Double occurrence of RA associated alleles was less frequent in PMR and GCA (9.9%; p = 0.005) than in patients with RA (20.8%). There was no significant relationship between markers of disease activity/severity and HLA-DRB1 genes in PMR or GCA. CONCLUSION: PMR and GCA were associated with HLA-DRB1*04, but more weakly than RA. Nevertheless, these data suggest that HLA-DRB1* genes are closely related to susceptibility in PMR, GCA, and RA and do not support the hypothesis of a different linkage to the 3rd hypervariable region of DRB1 alleles. By contrast with RA, HLA-DRB1* genes do not appear to be indicators of disease severity in PMR and GCA.

Aged↗
PubMed1998

[Pheochromocytoma manifesting as toe necrosis].

BACKGROUND: Cutaneous manifestations of pheochromocytoma other than sweating, and facial pallor during paroxysmal episodes of hypertension are exceptional. CASE REPORT: We observed partial necrosis of the fourth toes which revealed pheochromocytoma. DISCUSSIONS: Signs of peripheral vascular disease are uncommon during the course of pheochromocytoma. Only four cases have been reported in the literature. Occurrence of distal necrosis in combination with hypertension and palpable pulses is suggestive of pheochromocytoma requiring assay of urinary catecholamines. The pathogenic mechanisms of necrosis would be vasospasm of cutaneous vessels due to excessive plasmatic catecholamine levels and thrombocytosis as an aggravating factor.

Adrenal Gland Neoplasms↗