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1.
Osteoporos Int ; 22(4): 1255-61, 2011 Apr.
Article in English | MEDLINE | ID: mdl-20683713

ABSTRACT

UNLABELLED: Gaucher disease type 1 (GD1), results in a range of skeletal complications including osteopenia, osteoporosis, and osteonecrosis, but there is little published information regarding vertebral fractures. Findings from this observational study indicated that the prevalence of vertebral fractures in a cohort of adult French GD1 patients is approximately 15%. INTRODUCTION: The aim of the study was to assess the prevalence and characteristics of vertebral fractures in a cohort of adult patients with GD1. METHODS: This study was performed in adult patients with GD1 based on a detailed and complete clinical examination. For all patients for whom vertebral fractures were reported, a specific questionnaire was sent to physicians, and imaging data were collected, when available, for centralized analysis. RESULTS: Data were collected from a total of 105 adult GD1 patients. Bone complications were reported in 85% of patients, among whom vertebral fractures were diagnosed in 16 (15%); seven women and nine men (mean age, 45 years). We observed five patients with multiple vertebral fractures and one patient in whom the T3 vertebra was fractured. Most of these patients did not report fracture-related back pain. CONCLUSIONS: The prevalence of vertebral fractures in this cohort of adult patients with GD1 was 15%. Greater awareness of the natural history of vertebral fractures in GD1, and rigorous monitoring of bone fragility and spine involvement in affected patients, should allow earlier detection and initiation of treatment tailored toward improving bone status.


Subject(s)
Gaucher Disease/complications , Spinal Fractures/etiology , Adult , Aged , Bone Diseases, Metabolic/epidemiology , Bone Diseases, Metabolic/etiology , Cohort Studies , Female , France/epidemiology , Gaucher Disease/epidemiology , Gaucher Disease/surgery , Humans , Male , Middle Aged , Osteoporotic Fractures/epidemiology , Osteoporotic Fractures/etiology , Prevalence , Spinal Fractures/epidemiology , Splenectomy
2.
J Inherit Metab Dis ; 33(4): 331-8, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20532983

ABSTRACT

BACKGROUND: Gaucher disease (GD), the most prevalent inherited lysosomal storage disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most common variant, is classically considered non-neuronopathic. METHODS: We performed a national cross-sectional observational survey-the French Observatoire on Gaucher Disease (FROG)-in patients with GD1 between March 2005 and September 2006. The study included all patients over 18 years of age with confirmed GD1 who attended participating centers for regular follow-up. RESULTS: One hundred and five patients were included, in whom we studied the prevalence and characteristics of relevant neurological symptoms associated with the neuraxis. Of these, 51 (49%) GD1 patients presented at least one neurological symptom. Four patients (4%) had Parkinson disease and 22 (21%) presented with at least one parkinsonian sign or at least one sign frequently associated with Parkinson disease. Five patients (5%) had a previous diagnosis of peripheral neuropathy. Other central nervous system symptoms were recorded in 20 (19%) patients and other peripheral nervous system symptoms in 39 (37%) patients. CONCLUSIONS: These data challenge the current classification of GD, and suggest that the three forms of GD each involve a different profile of neurological manifestations.


Subject(s)
Gaucher Disease/epidemiology , Health Surveys , Parkinsonian Disorders/epidemiology , Peripheral Nervous System Diseases/epidemiology , Adult , Cross-Sectional Studies , Depressive Disorder/epidemiology , Depressive Disorder/genetics , Female , France/epidemiology , Gaucher Disease/genetics , Genotype , Humans , Male , Middle Aged , Parkinsonian Disorders/genetics , Peripheral Nervous System Diseases/genetics , Prevalence
6.
Eur J Intern Med ; 16(3): 207-208, 2005 Jun.
Article in English | MEDLINE | ID: mdl-15967340

ABSTRACT

We report a case of hypocomplementemic urticarial vasculitis heralding a relapsing polychondritis in a 63-year-old woman. The patient, who had suffered in the past from polymyalgia rheumatica, suddenly experienced a generalized urticarial eruption with a dramatic decrease in C4 complement fraction and the presence of anti-C1q antibodies. Two months later, an ear chondritis occurred and the patient rapidly responded to steroids and dapsone. To our knowledge, this association has never been reported.

7.
Rev Med Interne ; 25(12): 931-3, 2004 Dec.
Article in French | MEDLINE | ID: mdl-15582175

ABSTRACT

INTRODUCTION: Acute schistosomiasis, called safari's fever in Africa and Katayama fever in Japan, is an immunoallergic reaction due to transcutaneous penetration of infective cercaria. We report the collective case of seven young adults spending holidays in Mali. EXEGESIS: An eighteen years-old girl presents fever, headache, diarrhoea and abdominal pains at return from Dogon country (south of Mali). After turned down malaria and with the notion of bathing in fresh water followed by pruritus, we think to safari's fever. So we alarm all other members of the group. All can be treated to avoid chronic schistosomiasis. CONCLUSION: These observations recall that acute schistosomiasis is a real danger for tourists when bathing in fresh water in endemic areas of Africa. Education of travellers is necessary. Occurrence of safari's fever should alert physicians to prevent chronic schistosomiasis.


Subject(s)
Schistosomiasis haematobia/diagnosis , Adolescent , Female , Fever/etiology , Humans , Schistosomiasis haematobia/complications
10.
Rev Med Interne ; 25(9): 663-6, 2004 Sep.
Article in French | MEDLINE | ID: mdl-15363622

ABSTRACT

INTRODUCTION: Ictero-hemorrhagic leptospirosis is an endemic disease in France. Weil's disease, a form of leptospirosis, is well known. Fort Bragg fever is characterized by a constant pretibial papular lesion. First described in the USA, this non icteric form of leptospirosis is usually benign. We report the first French case of a mixed form of leptospirosis. EXEGESIS: A 52-year-old man living in South East France suffered from fever and myalgias associated with a pretibial papular lesion. A severe icterus appeared and permitted a diagnosis of leptospirosis. CONCLUSION: Our case recalls the clinical presentation of Fort Bragg fever, which is recognized through its inflammatory pretibial lesion associated or not with icterus.


Subject(s)
Leptospirosis/diagnosis , Anti-Bacterial Agents/administration & dosage , Anti-Bacterial Agents/therapeutic use , Bilirubin/blood , Diagnosis, Differential , Humans , Jaundice/blood , Jaundice/complications , Jaundice/diagnosis , Leptospirosis/blood , Leptospirosis/complications , Leptospirosis/drug therapy , Male , Middle Aged , Penicillin G/administration & dosage , Penicillin G/therapeutic use , Terminology as Topic , Time Factors , Treatment Outcome
12.
Dermatology ; 205(4): 409-12, 2002.
Article in English | MEDLINE | ID: mdl-12444342

ABSTRACT

We report 2 patients who had sarcoidosis with skin involvement associated with bilateral anterior uveitis. During the follow-up, they developed chronic myelomonocytic leukemia. This association is of particular interest as sarcoidosis and chronic myelomonocytic leukemia may be considered as disorders of a common monocyte-macrophage cell lineage.


Subject(s)
Leukemia, Myelomonocytic, Chronic/diagnosis , Precancerous Conditions/pathology , Sarcoidosis, Pulmonary/pathology , Antineoplastic Combined Chemotherapy Protocols/administration & dosage , Biopsy, Needle , Blood Chemical Analysis , Bone Marrow/pathology , Bronchoscopy , Diagnosis, Differential , Female , Follow-Up Studies , Humans , Leukemia, Myelomonocytic, Chronic/drug therapy , Middle Aged , Risk Assessment , Sarcoidosis, Pulmonary/diagnosis , Sarcoidosis, Pulmonary/drug therapy , Severity of Illness Index , Steroids/administration & dosage , Tomography, X-Ray Computed , Treatment Outcome
14.
Rev Med Interne ; 23(2): 137-43, 2002 Feb.
Article in French | MEDLINE | ID: mdl-11876057

ABSTRACT

PURPOSE: Gamma/delta T lymphocytes constitute a singular population due to their particular antigenic recognition and their localization inside the epithelium. Their functions are complementary to those of the alpha/beta T-cells and they are involved in the defense and regulation of the immune system. Their role in human diseases is not very well understood and the aim of our study was to analyze a population of patients with a peripheral gamma/delta T-cell lymphocytosis. METHODS: The study included 55 patients, recruited from 1997 to 2000, with a peripheral gamma/delta T lymphocytosis (defined by a proportion of gamma/delta T-cells of over 10% of total peripheral T lymphocytes). Analysis of the lymphocyte population was obtained by cytometry after peripheral blood sampling. RESULTS: Three main groups of diseases were observed: infectious diseases (viral infections and tuberculosis), inflammatory diseases (sarcoidosis and autoimmune diseases) and blood diseases (monoclonal gammopathies and hemopathies). Persistence of gamma/delta T lymphocytosis was dependent on the underlying disease (transitional when associated with an infectious disease and lasting when associated with sarcoidosis). The rest of the immunophenotyping analysis was usually normal. CONCLUSION: Our results confirm the data published in the literature concerning the role of the gamma/delta T lymphocytes in infectious, inflammatory and autoimmune diseases and neoplasias. These data are in agreement with the cytotoxic and regular functions of these lymphocytes.


Subject(s)
Lymphocytosis/blood , Receptors, Antigen, T-Cell, gamma-delta , T-Lymphocytes , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Retrospective Studies
17.
Clin Rheumatol ; 20(5): 379-82, 2001.
Article in English | MEDLINE | ID: mdl-11642524

ABSTRACT

Occupational exposure to vinyl chloride monomers is known to induce Raynaud's phenomenon, periportal fibrosis, liver angiosarcoma and scleroderma-like syndrome. We report the first case of occupational polymyositis in a 58-year-old man exposed to vinyl chloride. A dysimmune process was strongly suspected as having induced vinyl chloride disease. Our patient had an anti-histidyl-t-RNA-synthetase (Jo1) antibody, which has never to our knowledge been reported in this occupational disease.


Subject(s)
Antibodies, Antinuclear/immunology , Occupational Diseases/chemically induced , Occupational Exposure/adverse effects , Polymyositis/chemically induced , Vinyl Chloride/adverse effects , Antibodies, Antinuclear/analysis , Follow-Up Studies , Humans , Male , Middle Aged , Occupational Diseases/immunology , Polymyositis/diagnosis , Risk Assessment , Syndrome , Time Factors
19.
Lupus ; 10(5): 368-9, 2001.
Article in English | MEDLINE | ID: mdl-11403269

ABSTRACT

A pinguecula is a small, raised conjunctival nodule at the temporal or nasal limbus classically associated with conjunctival microtrauma from exposure to sunlight and/or to dust. We report two cases occurring during the course of Sjögren's syndrome. To our knowledge this association has never been described.


Subject(s)
Conjunctival Diseases/complications , Sjogren's Syndrome/complications , Antibodies, Antinuclear/blood , Female , Humans , Middle Aged , Sjogren's Syndrome/immunology
20.
Presse Med ; 30(11): 531-2, 2001 Mar 24.
Article in French | MEDLINE | ID: mdl-11317926

ABSTRACT

BACKGROUND: Sicca syndrome after Stevens-Johnson syndrome is classically described. However, to our knowledge, authentic Sjögren's syndrome following epidermal necrolysis has not been described previously. CASE REPORT: A 36-year-old woman with Steven-Johnson syndrome developed transient hepatitis and a persistent sicca syndrome. Fourteen years later an authentic Sjögren's syndrome was identified with presence of antinuclear and anti-SSA antibodies and lymphocytes infiltration of the accessory salivary glands, i.e. grade IV disease in the Chisholm classification. DISCUSSION: The initial mucosal destruction observed in our patients may have laid the ground for Sjögren's syndrome via abnormal antigen presentation in a predisposed dysimmune context.


Subject(s)
Sjogren's Syndrome/etiology , Stevens-Johnson Syndrome/complications , Adult , Antibodies, Antinuclear/analysis , Biopsy , Diagnosis, Differential , Female , Fluorescent Antibody Technique, Indirect , Follow-Up Studies , Humans , Salivary Glands/pathology , Sjogren's Syndrome/diagnosis , Sjogren's Syndrome/immunology , Sjogren's Syndrome/pathology , Time Factors
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