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Biomedical subjects

J P Leroy

Publications and source records attributed to J P Leroy.

At least 19 recordsLinked to original sources
PubMed2005

[Neutrophilic dermatosis associated with propylthiouracil-induced p-ANCA (p-antineutrophil cytoplasmic antibodies)].

INTRODUCTION: We report on a patient who progressively developed polymorphic expressions of neutrophilic dermatosis (Sneddon-Wilkinson subcorneal pustulosis and pyoderma gangrenosum) associated with p-antineutrophil cytoplasmic antibodies (p-ANCA), while receiving propylthiouracil for hyperthyroidism. To our knowledge, such associations have never been published so far. CASE-REPORT: A 40 year-old woman was treated with propylthiouracil for Graves'disease. After 16 months of therapy, she noted flares of pustular lesions surrounded with erythematous halo mainly localized on the trunk. The lesions became chronic, and were not improved by potent topical corticosteroids. When first seen in our department in February 2003, the eruption was typical of Sneddon-Wilkinson subcorneal pustulosis. This diagnosis was confirmed by the histological examination of a skin biopsy of a pustule. One month later, she developed an inflammatory progressively ulcerative lesion on the right ankle, typical of pyoderma gangrenosum. The diagnosis was confirmed by the histological examination of a skin biopsy taken on the evolving border of the lesion and showed polynuclear neutrophilic infiltration without vasculitis. Direct immunofluorescence was negative. The presence of serum anti-myeloperoxydase p-ANCA was known for this patient since October 2002. No IgA monoclonal gammapathy was revealed on extensive biological check-up. Systemic oral corticosteroid therapy (1 mg/kg/day) dramatically improved skin lesions with complete healing within 8 weeks. DISCUSSION: Propylthiouracil is well known to induce the occurrence of ANCA in 20 to 64p. 100 of patients treated for Graves'disease. The mechanisms involved are badly recognized so far. Cutaneous vasculitis, glomerulonephritis and polychondritis may be clinically associated with those antibodies. Rare observations of neutrophilic dermatosis, mostly Sweet's syndrome, have been described in patients with propylthiouracil-induced ANCA. One case-report described a 44 year-old woman who developed pyoderma gangrenosum associated with propylthiouracil-induced p-ANCA. These manifestations usually appear within 2 years, as our patient. The data in the literature, allows us to report the polymorphic expressions of neutrophilic dermatosis in this patient with p-ANCA which could be related to propylthiouracil. Such association of Sneddon-Wilkinson subcorneal pustulosis and pyoderma gangrenosum with p-ANCA has never been described in this endocrinologic context so far. Furthermore we propose that neutrophilic dermatosis should be inscribed in the list of side effects induced by propylthiouracil therapy.

Adrenal Cortex Hormones↗
PubMed2005

Towards the molecular elucidation of congenital myasthenic syndromes: identification of mutations in MuSK.

Congenital myasthenic syndromes (CMS) are rare genetic diseases affecting the neuromuscular junction (NMJ) and characterized by a dysfunction of the neurotransmission. They are heterogeneous at the pathophysiological level and can be classified in three categories according to their origin: presynaptic, synaptic or postsynaptic. The strategy for the diagnosis and characterization of CMS relies on the clinic, EMG, muscle biopsy, identification of mutations in genes known to be responsible for CMS and the demonstration that the gene mutations are the cause of the disease by using experimental approaches. As an example of such strategy, we report briefly here the characterization of the first case of a human neuromuscular transmission dysfunction due to mutations in the gene encoding a postsynaptic molecule, the muscle-specific receptor tyrosine kinase (MuSK). Gene analysis identified two heteroallelic mutations, a frameshift mutation (c.220insC) and a missense mutation (V790M). The muscle biopsy showed marked pre- and postsynaptic structural abnormalities of the neuromuscular junction as well as a severe decrease in acetylcholine receptor epsilon-subunit and MuSK expression. In vitro and in vivo expression experiments were performed using mutant MuSK reproducing the human mutations. The results obtained strongly suggested that the missense mutation, in the presence of a null mutation on the other allele, was responsible for the severe synaptic changes observed in the patient and, hence, is causing the disease. However the molecular origin of a large number of CMS is still unknown. There are hundreds of molecules known to be present at the NMJ and mutations in the genes coding for these synaptic molecules are likely to be responsible for a neuromuscular block.

DNA Mutational Analysis↗
PubMed2005

Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus.

We analysed the clinical, histochemical, ultrastructural and genetic data of patients affected by central core disease (CCD) studied during the last 20 years. From a total series of 86 CCD-families, we have identified 46 CCD families with RYR1 mutations (16 autosomal dominant, 8 autosomal recessive, 17 sporadic cases and 5 de novo mutations). Out of the other 40 CCD families, the RyR1 gene was entirely excluded in 7 families, by cDNA sequencing or linkage analysis, indicating a genetic heterogeneity of CCD.

Humans↗
PubMed2004

Topical imiquimod treatment of lentigo maligna: clinical and histologic evaluation.

We have treated extensive lentigo maligna in two elderly patients with Imiquimod 5% (Aldara). It was applied 3 times weekly, for 3 to 5 months. Clinical and histological remission was observed over 13 months of follow-up care. Tolerance was good. We suggest that topical imiquimod could be an interesting therapeutic alternative.

Administration, Topical↗
PubMed2004

[Congenital myasthenic syndromes due to mutations in the rapsyn gene].

Congenital myasthenic syndromes (CMS) are genetic diseases characterized by dysfunctional neuromuscular transmission and usually start during the neonatal period. Most are due to postsynaptic abnormalities, specifically to mutations in the acetylcholine receptor (AChR) genes. In 2002, the group of A Engel reported the first cases of CMS with mutations in the gene coding rapsyn, a postsynaptic molecule which stabilizes AChR aggregates at the neuromuscular junction. Since this first publication, more than 30 other cases, including six in France, have been reported. Study of these published cases allows us to distinguish three classes of phenotypes: 1) severe neonatal cases; 2) more benign cases, starting during infancy; 3) cases with facial malformations, involving Jewish patients originating from the Near-East. Comparison of the observations of other groups with our own has led us to the following conclusions: the N88K mutation is frequent (homozygous in 50% of cases); besides the N88K mutation, the second mutation varies considerably; heterozygous allelic cases (N88K + another mutation) are severe; there is probably a founder effect in the European population. There is phenotypic variability in the homozygous N88K cases, with benign cases and severe cases of early expression. A Engel and colleagues report that the seven cases of benign CMS with facial malformation, previously described in the Jewish population of Iraq and Iran, were caused by mutation in the promoter region of the rapsyn gene.

Alleles↗
PubMed2004

Zygomycosis caused by Cunninghamella bertholletiae in a kidney transplant recipient.

Infections caused by Cunninghamella bertholletiae are rare but severe. Only 32 cases have been reported as yet, but in 26 of these this species was a contributing cause of the death of the patient. This opportunistic mould in the order Mucorales infects immunocompromized patients suffering from haematological malignancies or diabetes mellitus, as well as solid organ transplant patients. The lung is the organ most often involved. Two cases of primary cutaneous infection have been previously reported subsequent to soft-tissue injuries. We report a case of primary cutaneous C. bertholletiae zygomycosis in a 54-year-old, insulin-dependent diabetic man who was treated with tacrolimus and steroids after kidney transplantation. No extracutaneous involvement was found. In this patient, the infection may have been related to insulin injections. The patient recovered after an early surgical excision of the lesion and daily administration of itraconazole for 2 months. This case emphasizes the importance of an early diagnosis of cutaneous zygomycosis, which often presents as necrotic-looking lesions. Prompt institution of antifungal therapy and rapid surgical intervention are necessary to improve the prospects of patients who have contracted these potentially severe infections.

Cunninghamella↗
PubMed2002

[Muscle-localized tumorlike polyarteritis nodosa].

INTRODUCTION: Systemic vasculitis presenting as a tumorlike lesion are unusual and affect mainly the uro-genital system and breast. Muscle-localized tumorlike periarteritis nodosa are scarce. EXEGESIS: We report localized tumorlike polyarteritis nodosa affecting the forearm muscles in a 90-year-old woman. CONCLUSION: Other cases of polyarteritis nodosa localized to muscles are reviewed. This limited form has a benign clinical course and responds promptly to treatment with corticosteroids alone but relapses may occur.

Aged↗
PubMed2002

[Trumpet nail deformity during the course of Dowling-Meara type epidermolysis bullosa simplex. A report of two cases].

INTRODUCTION: We report two patients with Dowling-Meara type epidermolysis bullosa simplex: who had trumpet nail deformity. CASE REPORTS: Two 75 and 72 year-old sisters, had flare-ups of epidermolysis bullosa simplex since childhood. The aspect of the lesions and electron microscopy were in favour of the diagnosis of the Dowling-Meara variant of epidermolysis bullosa simplex. Both women had several fingernails with pincer and trumpet nail deformities. There were no such signs among the other siblings, who had never had epidermolysis. DISCUSSION: Nail involvement is not rare during the course of superficial epidermolysis bullosa. The trumpet lesions appear to be relatively specific to the present two cases of epidermolysis bullosa simplex. The electron microscopic findings of these two cases were also noteworthy, with whisk-like but not round clumping of the perinuclear tonofilaments.

Aged↗
PubMed2001

The detection of Tel-TrkC chimeric transcripts is more specific than TrkC immunoreactivity for the diagnosis of congenital fibrosarcoma.

The t(12;15)(p13;q25) translocation, a recurrent chromosomal abnormality of congenital fibrosarcoma, leads to the expression of a Tel-TrkC fusion transcript. To determine whether detection of the chimeric protein may be helpful for the diagnosis of congenital fibrosarcoma, immunohistochemistry was performed with an anti-TrkC antibody on 26 spindle cell tumours of newborn or young children (n=19) or adults (n=7). Four out of five congenital fibrosarcomas showed TrkC immunoreactivity with cytoplasmic paranuclear staining. However, TrkC immunoreactivity was not restricted to congenital fibrosarcoma and was observed in infantile myofibromatosis, congenital haemangiopericytoma, desmoid tumour, nodular fasciitis, fibrous hamartoma, inflammatory myofibroblastic tumour, and adult fibrosarcoma. RT-PCR analysis was performed on nine cases, including four congenital fibrosarcomas, for which frozen material was available. Tel-TrkC transcripts were detected by RT-PCR in the four congenital fibrosarcomas analysed, but not in the five other spindle cell tumours. Furthermore, several Tel-TrkC transcripts encoding for kinase isoforms of the Tel-TrkC protein were detected in congenital fibrosarcoma and may be involved in oncogenesis. The reciprocal TrkC-Tel transcript was detected in only one congenital fibrosarcoma. While the detection of a Tel-TrkC fusion transcript is a recurrent feature of congenital fibrosarcoma, TrkC immunoreactivity does not appear specific for the diagnosis of fibromatous paediatric tumours.

Adult↗
PubMed2001

Doc'CISMEF: a search tool based on "encapsulated" MeSH thesaurus.

In the year 2000, the Internet became a major source of health information for the health professional and the Netizen. The objective of Doc'CISMeF (D'C) was to create a powerful generic search tool based on an structured information model which â encapsulates' the MeSH thesaurus to index and retrieve quality health resources on the Internet. To index resources, D'C uses four sections in its information model: 'meta-term', keyword, subheading, and resource type. Two search options are available: simple and advanced. The simple search requires the end-user to input a single term or expression. If this term belongs to the D'C information structure model, it will be exploded. If not, a full-text search is performed. In the advanced search, complex searches are possible combining Boolean operators with meta-terms, keywords, subheadings and resource types. D'C uses two standard tools for organising information: the MeSH thesaurus and the Dublin Core metadata format. Resources included in D'C are described according to the following elements: title, author or creator, subject and keywords, description, publisher, date, resource type, format, identifier, and language.

Abstracting and Indexing↗
PubMed2001

[Inclusion body myositis associated with sacroidosis: a report of 3 cases].

Inclusion body myositis (IBM) is a severe form of idiopathic inflammatory myopathy. A predominantly T CD8+ lymphocytic infiltrate, with focally non-necrotizing muscular fiber invasion, and rimmed-vacuoles are specific histological signs. A few cases of IBM associated with other dysimmune diseases have been reported, but only once with systemic sarcoidosis. We report three cases of muscular sarcoidosis associated with IBM. This very uncommon observation suggests that major complex of histocompatibility, soluble factors, cytokines and adhesion molecules could be involved. Our cases are a novel example of associated dysimmune diseases.

Biopsy↗
PubMed2001

[Panniculitis and macrophage activation syndrome in a child with lupus erythematosus].

INTRODUCTION: Panniculitis is rarely presented in the course of systemic lupus erythematosus. When it occurs, it is mainly related to lupus profundus. However, when panniculitis is associated with a reactive hemophagocytic syndrome, panniculitis could be linked to this hemophagocytosis reaction. CASE REPORT: We report a case of an 11-year-old girl treated for several years for systemic lupus erythematosus, who simultaneously presented panniculitis and an hemophagocytic syndrome. The reality of both diagnoses was based on the analysis of biological and histological data. Therapy with immunosuppressive drugs led to relief of the symptoms. DISCUSSION: We emphasize our discussion on the pathophysiology of lupus profundus and hemophagocytosis with regards to the role of cytokines and circulating immune complexes in both diseases. They may enhance the hypodermal necrosis observed in lupus profundus and induce macrophage cell dysregulation through cytotoxic cells known in hemophagocytosis. The immunomodulative action of immunosuppressive therapy with inhibition of cells involved in immune response, may explain its efficacy.

Antigen-Antibody Complex↗
PubMed2000

Systemic administration of cationic phosphonolipids/DNA complexes and the relationship between formulation and lung transfection efficiency.

Performances of cationic lipid formulations for intravenous gene delivery to mouse lungs have been previously reported. We report in this study that cationic phosphonolipids, when appropriately formulated, can be good synthetic vectors for gene delivery to lung after intravenous administration. One of our reagents, GLB43, was capable of mediating a 500-fold higher expression in the lungs of mice than could be obtained with free pDNA alone (P=0.018). We demonstrate that the most important parameters for cationic phosphonolipid transfection activity after systemic administration are the chemical structure of the cationic phosphonolipid, the lipid to DNA charge ratio and the inclusion of co-lipid in the formulation. We report using a luciferase reporter gene that transfection activity in vivo 24 h after cationic phosphonolipid systemic administration could not be predicted from in vitro analysis. In contrast to in vitro studies, cationic phosphonolipids including the oleyl acyl chains (GLB43) were more effective than its analogue with the myristyl acyl chains (GLB73). Using pathological analysis of animal livers, we demonstrate that the toxicity level was correlated with the lipoplex formulation and the lipid to DNA ratio.

Animals↗