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Biomedical subjects

Brigitte Granel

Publications and source records attributed to Brigitte Granel.

At least 19 recordsLinked to original sources
PubMed2006

IL13RA2 gene polymorphisms are associated with systemic sclerosis.

OBJECTIVE: To investigate the influence of genetic variability on the phenotypic expression of systemic sclerosis (SSc), by testing possible associations between single nucleotide polymorphisms (SNP) in IL13RA1 and IL13RA2 genes and SSc in a Caucasian population. METHODS: As IL13RA1 and IL13RA2 are located on the X chromosome and SSc occurs far more frequently in women than in men, only women were genotyped. The study group comprised 97 women with SSc, 36 with diffuse (dcSSc) and 61 with limited (lcSSc) cutaneous forms of disease, and 109 healthy controls. Patients and controls were Caucasian. We investigated 4 SNP in IL13RA1 and 3 in IL13RA2 by polymerase chain reaction amplifications and enzymatic digestion or primer extension reactions and denaturing high-performance liquid chromatography. RESULTS: We detected an association between IL13RA2 rs638376 and patients with SSc [p = 0.004, odds ratio (OR) = 1.85, confidence interval (CI) 1.22-2.74, p corr = 0.02], as well as with dcSSc in that subgroup of patients (p = 0.01, OR 2.22, 95% CI 1.27-3.89, p corr = 0.05). The IL13RA2 rs638376G allele frequency was higher in patients with SSc (51.6%) than in controls (36.4%, p = 0.003, OR 1.86, 95% CI 1.24-2.79, p corr = 0.015) and in the subgroup with dcSSc (57.6%) than in controls (36.4%, p = 0.003, OR 2.37, 95% CI 1.35-4.15, p corr = 0.015). One other IL13RA2 SNP was only associated with the dcSSc subgroup: the IL13RA2 rs5946040G allele was more common in patients with dcSSc (33.8%) than in controls (17%, p = 0.004, OR 2.5, 95% CI 1.36-4.60, p corr = 0.02). CONCLUSION: Our data suggest that IL13RA2 gene polymorphisms may be involved in susceptibility to SSc. Further studies are under way to show that they contribute to disease.

Adult↗
PubMed2006

Evaluation of interleukin 13 polymorphisms in systemic sclerosis.

Systemic sclerosis (SSc) is a multisystem disease of unknown etiology. It is characterized by excessive cutaneous and visceral fibrosis, damage to small blood vessels, and production of autoantibodies. Interleukin-13 (IL-13) has been shown to be involved in abnormal fibrosis in other diseases. Therefore, we have evaluated its possible involvement in SSc. We analyzed four IL13 gene polymorphisms, rs1800925 (IL13-1055), rs20541 (Arg130Gln), rs847, and rs2243204 in 107 unrelated SSc patients (40 patients having diffuse cutaneous form and 67 patients having limited cutaneous form) and in 170 controls. All subjects were Caucasians. In the total patient population and in the diffuse cutaneous subset, we observed an association between two IL13 polymorphisms, IL13 rs1800925 (IL13-1055), and IL13 rs2243204, and disease (p=0.03-0.04). The IL13 rs2243204T allele was more common in SSc patients (p=0.01, OR=2.3 CI 1.21-4.38) and in the diffuse cutaneous form (p=0.01, OR=2.95, CI 1.35-6.49) than in control subjects. Our result supports the suggestion that polymorphisms in IL13 are associated to SSc and skin fibrosis process. However, further studies on larger and independent population and functional analyses are needed to confirm these findings.

Aged↗
PubMed2006

Multiple cutaneous angiomas and Poems syndrome.

INTRODUCTION: Poems syndrome is characterized by polyneuropathy, organomegaly, endocrinopathy, M-proteins, and skin lesions. CASE: We describe here a case in which the eruption of diffuse cutaneous angiomas in a woman with a history of bone plasmocytoma and progressive polyneuropathy helped physicians to diagnose Poems syndrome. DISCUSSION: Other manifestations of Poems syndrome in this patient included endocrine dysfunction (hypothyroidism, adrenal insufficiency, and hypogonadism), sclerotic bone lesions of the femoral shaft, ribs, and vertebral body, monoclonal gammopathy, and anasarca. Steroid treatment led to dramatic improvement of polyserositis and a generally good outcome, despite persistence of the cutaneous lesions. This case points out this unusual cutaneous manifestation associated with Poems syndrome.

Aged↗
PubMed2006

Lysozyme amyloidosis: report of 4 cases and a review of the literature.

Autosomal dominant hereditary amyloidosis represents not 1 disease but a group of diseases, each the result of mutations in a specific protein. The most common form is transthyretin amyloidosis, which has been recognized clinically for over 50 years as a familial polyneuropathy. Nonneuropathic amyloidoses (Ostertag type amyloidosis) include those due to abnormalities in lysozyme, fibrinogen Aalpha-chain, and apolipoprotein A-I and A-II. The role of lysozyme in amyloid-related human disorders was first described in 1993; to date, there have been only 9 publications describing this disorder, which is a nonneuropathic form of hereditary amyloidosis. Reported cases have involved 7 unrelated families. We describe here our own experience with 4 families suffering from lysozyme amyloidosis: the first had prominent renal manifestations with sicca syndrome, the second and third had prominent gastrointestinal symptoms, and the fourth had a dramatic bleeding event due to rupture of abdominal lymph nodes. To our knowledge, this last symptom has not been reported previously, but is reminiscent of the hepatic hemorrhage seen in a previously reported case of a patient with lysozyme amyloidosis. To characterize the manifestations of this disorder, we performed an exhaustive literature review.Although hereditary amyloidosis is thought to be a rare disease, it is probably not as rare as we think and may well be underdiagnosed. Moreover, some cases of lysozyme amyloidosis are probably confused with acquired monoclonal immunoglobulin light-chain (AL) amyloidosis, formerly known as primary amyloidosis, which is the most frequent type of amyloidosis. Because treatment for each type of amyloidosis is different, and because therapy directed at 1 type may worsen symptoms of the other types, it is important to determine precisely the nature of the amyloid protein. Thus, hereditary lysozyme amyloidosis should be considered in all patients with systemic amyloidosis, particularly in patients who present with renal, gastrointestinal, or bleeding complications without evidence of AL or AA (secondary) amyloidoses.

Adult↗
PubMed2005

Acute cytomegalovirus infection complicated by venous thrombosis: a case report.

BACKGROUND: CMV-induced vasculopathy and thrombosis have been reported, but they are rare conditions usually encountered in immunocompromised patients. However more and more complications of CMV infections are recognized in immunocompetent patients. CASE PRESENTATION: We present a case report of a previously healthy adult with cytomegalovirus infection that was complicated by tibiopopliteal deep venous thrombosis and in whom Factor V Leiden heterozygous mutation was found. CONCLUSION: This new case report emphasizes the involvement of cytomegalovirus in induction of vascular thrombosis in patients with predisposing risk factors for thrombosis. It is necessary to screen for CMV infection in patients with spontaneous thrombosis and an history of fever.

Acute Disease↗
PubMed2005

Pretreatment with corticosteroids attenuates the efficacy of colchicine in preventing recurrent pericarditis: a multi-centre all-case analysis.

AIMS: Effective prevention of recurrent pericarditis remains an important yet elusive goal. Corticosteroid therapy often needs to be continued for a prolonged period and causes severe side effects. We performed a multi-centre all-case analysis to investigate the efficacy of colchicine in preventing subsequent relapses of pericarditis, and addressed the hypothesis that pretreatment with corticosteroids may attenuate the beneficial effect of colchicine. METHODS AND RESULTS: One hundred and forty published and unpublished cases of patients treated with colchicine after at least two relapses of pericarditis were aggregated from European centres. Of those, 119 were included in the study group. Only 18% of the patients had relapses under colchicine therapy, and 30% after its discontinuation. There were significantly more relapses among male patients after colchicine treatment (36 vs. 17%, P=0.046), and those with previous corticosteroid treatment (43 vs. 13%, P=0.02). Multivariate logistic regression analysis identified previous corticosteroid therapy (OR 6.68, 95% CI: 1.65-27.02) and male gender (OR 4.20, 95% CI: 1.16-15.21) as independent risk factors for recurrence following colchicine therapy. CONCLUSION: Treatment with colchicine is highly effective in preventing recurrent pericarditis, while pretreatment with corticosteroids exacerbates and extends the course of recurrent pericarditis.

Adolescent↗
PubMed2004

[Hereditary intermittant fever].

UNLABELLED: Other than familial mediterranean fever: Four hereditary diseases presenting in the form of intermittent inflammatory flares are now recognized and have been characterised clinically and genetically. At the head of this group is Familial Mediterranean Fever (FMF), which affects thousands of patients originating from the Mediterranean area. However the familial Mediterranean Fever is no longer the only recurrent hereditary inflammatory disease. Three other entities have now been clearly defined: intermittent fever secondary to mutations in the type 1A Tumour Necrosis Factor receptor (TNF), of dominant autosomic genetic transmission, the hyperimmunoglobulinemia D syndrome and an entity regrouping the Muckle Wells syndrome, familial cold-induced urticaria, and the Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome. IN PRACTICE: Because they require specific management and treatment, precise diagnosis of these entities is crucial.

Adult↗
PubMed2004

Sequential development of perinuclear ANCA-associated vasculitis and anti-glomerular basement membrane glomerulonephritis.

A 75-year-old man suffered from perinuclear antineutrophil cytoplasm antibody (p-ANCA)-associated vasculitis with mild renal involvement. Three years later, he suddenly experienced an anuric acute renal failure due to anti-glomerular basement membrane (GBM) disease. Antibodies to myeloperoxydase were continuously present at a high titer in the patient's serum while serum anti-GBM antibodies were only detected at the time of the acute renal failure. A substantial proportion of patients with anti-GBM glomerulonephritis simultaneously display ANCAs whose pathogenic role is not clear. In our case, ANCAs were supposed to be of pathogenic importance because they may have uncovered the Goodpasture antigen. This case report lends further support to the concept that p-ANCA vasculitis may trigger anti-GBM disease.

Aged↗
PubMed2004

Painful jaundice revealing Kawasaki disease in a young man.

Liver involvement is usually a minor manifestation of Kawasaki disease and includes hepatobiliary dysfunction or gallbladder hydrops. We describe here an unusual case of jaundice revealing an adult onset Kawasaki disease. An 18-year-old man presented with abdominal pain and jaundice associated with cholestasis as the initial manifestation of Kawasaki disease. Abdominal evaluation (ultrasonography and CT-scan) did not find abnormality. Other signs typical of the Kawasaki disease occurred a few days later and permitted diagnosis. With aspirin and intravenous immunoglobulins, outcome was favorable without any cardiovascular complication. Our case suggests that Kawasaki disease should be added to the etiological list of painful febrile icterus in young patients.

Abdominal Pain↗
PubMed2003

Severe relapsing polychondritis occurring after ear piercing.

We describe a case of relapsing polychondritis with laryngo-tracheal involvement, occurring after ear piercing in a 39-year-old woman. Polychondritis was clearly time-related to ear piercing. This association draws attention to the risk of relapsing polychondritis during body art practices with cartilage trauma.

Adult↗
PubMed2002

[Psychosis revealing a silent celiac disease in a young women with trisomy 21].

INTRODUCTION: Down's syndrome is characterized by an abnormal frequency of coeliac disease and by the frequent occurrence of neurological disorders such as Alzheimer-type dementia of early onset. However, psychosis is rare in Down's syndrome. OBSERVATION: We report the case of a 41-year-old woman, who presented with Down's syndrome. She was living with her parents and had a normal social life. She suddenly experienced some esthesic hallucinations, depression, anorexia, affective flattening and autistic behavior. Biological evaluation revealed macrocytosis, polyclonal IgA and IgG hypergammaglobulinemia and strong positivity for anti-gliadin antibodies of IgG and IgA isotypes. Brain CTscan was normal. Since digestive specimen biopsies did not evidence villous atrophy, we concluded in a silent coeliac disease. After 12 months of gluten-free diet a spectacular and lasting improvement of both psychotic and depressive symptoms was obtained. DISCUSSION: The effects of abnormal interaction between the immune system and gluten can be expressed not only in the gut (coeliac disease) but also in the brain (psychosis) in genetically predisposed patients, such as those suffering from Down's syndrome. There was evidence for brain disorder related to coeliac disease in our patient. CONCLUSION: Our case report shows that, before concluding in Alzheimer-type dementia in Down's syndrome, a biological search for coeliac disease is useful since a gluten-free diet may improve the psychiatric symptoms.

Adult↗
PubMed2002

New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes.

Mutations of CIAS1 have recently been shown to underlie familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS), in three families and one family, respectively. These rare autosomal dominant diseases are both characterized by recurrent inflammatory crises that start in childhood and that are generally associated with fever, arthralgia, and urticaria. The presence of sensorineural deafness that occurs later in life is characteristic of MWS. Amyloidosis of the amyloidosis-associated type is the main complication of MWS and is sometimes associated with FCU. In FCU, cold exposure is the triggering factor of the inflammatory crisis. We identified CIAS1 mutations, all located in exon 3, in nine unrelated families with MWS and in three unrelated families with FCU, originating from France, England, and Algeria. Five mutations--namely, R260W, D303N, T348M, A439T, and G569R--were novel. The R260W mutation was identified in two families with MWS and in two families with FCU, of different ethnic origins, thereby demonstrating that a single CIAS1 mutation may cause both syndromes. This result indicates that modifier genes are involved in determining either a MWS or a FCU phenotype. The finding of the G569R mutation in an asymptomatic individual further emphasizes the importance of such modifier a gene (or genes) in determining the disease phenotype. Identification of this gene (or these genes) is likely to have significant therapeutic implications for these severe diseases.

Adolescent↗
PubMed2002

Benign intracranial hypertension and thyreostimulin suppression hormonotherapy.

PURPOSE: To report a case of benign intracranial hypertension occurring during thyreostimulin suppression hormonotherapy after thyroidectomy for papillary cancer. DESIGN: Interventional case report. METHODS: A 45-year-old woman underwent total thyroidectomy for a 7-mm papillary cancer. Seventeen years later, she experienced headache, dizziness, irritability, sensation of full head, and blurred vision of the right eye while being treated with a mix of L thyroxin (LT4) and liothyronin (LT3). Ophthalmological data (including the presence of papilledema), cerebroorbital magnetic resonance imaging, and lumbar pressure evaluation confirmed benign intracranial hypertension. RESULTS: Substitutive hormonotherapy was decreased under specialized surveillance, permitting remission of benign intracranial hypertension symptoms and papilledema. CONCLUSIONS: Benign intracranial hypertension is usually difficult to cure, and its association with thyroid hormonotherapy is rare. In our patient, tapering LT4 and withdrawal of LT3 until a euthyroidal state was obtained resulted in successful treatment of benign intracranial hypertension.

Adenocarcinoma, Papillary↗