RESUMEN
INTRODUCTION: Telemedicine has been developing in France since 2018. The objective of this survey was to assess the knowledge, attitudes, practices and training of internal physicians regarding telemedicine. MATERIAL AND METHODS: A national descriptive observational study carried out between July and October 2019, via an online self-questionnaire with members of the National Society of Internal Medicine and the Association of Young Internists, included a descriptive and comparative analysis by subgroups of age. RESULTS: Analysis of 309 responses from physicians qualified in internal medicine or practicing in an internal medicine service (61,8%) and residents in internal medicine (38%) showed that 34.6% had notions or a good knowledge of regulation of telemedicine. For 62,1%, 72.5% and 74.1% respectively, it could improve patient care, access to care and exchanges between internists and other doctors. The main obstacles to this practice were the absence of face-to-face with the patient (57.3%) and computer dysfunctions (55%). Only 23.3% practiced it, including 88.9% tele-expertise. Telemedicine was performed informally (telephone and email) in 70.8% of the cases. Doctors over the age of 50 were better acquainted with the regulations and more practiced official telemedicine. In total, 54% wanted to practice telemedicine and 72.8% wanted to train there. CONCLUSION: Attitudes towards telemedicine were positive, but few internists knew about it and practiced it formally, warranting appropriate training.
Asunto(s)
Médicos , Telemedicina , Humanos , Medicina Interna , Encuestas y Cuestionarios , TeléfonoRESUMEN
Systemic sclerosis (scleroderma) is a rare auto immune disease. Its physiopathology, based on various mechanisms, involves a predisposing genetic background and some exogenous factors. Among them, the role of toxic products is highly suggested according to several case-control studies. The aim of this study is to review the literature concerning occupational exposure associated with scleroderma. This review is completed by the results of a self-reported questionnaire on occupational exposures sent to 82 scleroderma patients followed in Marseille. Scleroderma associated with silica exposure should be declared as occupational disease. Moreover, the role of other toxic agents such as solvents is highly suspected and scleroderma occurring in case of high exposure should also be declared. Our study performed in Marseilles showed a occupational exposure in 10% of cases (five patients having an occupational exposure that could be involved in the genesis of the disease). One had an occupational silica exposure and was declared as occupational silica disease. Other cases had various toxic exposures including solvents and two were declared as disease of occupational nature. Occupational exposure (labour and leisure) must be searched for when faced with a scleroderma patient for two reasons: the possible declaration of an occupational disease and a better knowledge on toxics involved in scleroderma.
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Exposición Profesional , Esclerodermia Sistémica/inducido químicamente , Anciano , Femenino , Francia , Humanos , Hidrocarburos/toxicidad , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Esclerodermia Sistémica/epidemiología , Solventes/toxicidad , Encuestas y CuestionariosRESUMEN
OBJECTIVE: Familial Mediterranean Fever (FMF) and TNF-Receptor Associated Periodic Syndrome (TRAPS) are two inheritable inflammatory disorders. They share some clinical manifestations but their treatments are different. We present here the case of an overlap syndrome of FMF and TRAPS in a patient carrying a mutation in both the MEFV and TNFRSF1A genes. CASE REPORT: A 20-year-old woman of Mediterranean origin had suffered since childhood from attacks of fever and arthritis, with skin and ophthalmic manifestations. The initial diagnosis was FMF. The symptoms responded poorly to colchicine but regressed with steroids. Genetic analysis revealed a homozygous M694V mutation in MEFV and a heterozygous R92Q mutation in TNFRSF1A. We discuss the complexity of this combined FMF-TRAPS phenotype. CONCLUSION: This case shows that mutations in MEFV and TNFRSF1A can occur together in a single patient, a condition that may modify its response to treatment. It would be interesting to evaluate the role of the R92Q mutation in TNFRSF1A in patients of Mediterranean origin with FMF unresponsive to colchicine.
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Colchicina/farmacología , Proteínas del Citoesqueleto/genética , Fiebre Mediterránea Familiar , Supresores de la Gota/farmacología , Polimorfismo de Nucleótido Simple/genética , Adulto , Fiebre Mediterránea Familiar/complicaciones , Fiebre Mediterránea Familiar/tratamiento farmacológico , Fiebre Mediterránea Familiar/genética , Femenino , Humanos , Mutación , Fenotipo , Pirina , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Síndrome , Factor 2 Asociado a Receptor de TNF , Péptidos y Proteínas Asociados a Receptores de Factores de Necrosis Tumoral/genéticaRESUMEN
INTRODUCTION: There is concern that e-cigarette use could be a risk factor for subsequent cigarette smoking. METHODS: This survey included a group of 1220 students at Aix-Marseille University who attended a check-up visit and volunteered to participate to the survey. They answered a standardized questionnaire relating to e-cigarette use, smoking habits and the relationship between both habits. Mean age of participants was 19.9 years and 56% of them were female. RESULTS: All students invited to the check-up examination attended and agreed to participate in the survey. 13.3% of students answered they had already used e-cigarettes, a higher proportion of boys (17.5%) than girls (10.0%), starting at a mean age equal to 19.2 years. Forty-six percent of them had already smoked cigarettes, more girls (55.0%) than boys (45.0%). Among current cigarette smokers, e-cigarette use had induced giving up smoking in 12.6% and a decrease in the number of cigarettes smoked in 30.1%. Twenty percent said they begun to smoke cigarettes after using e-cigarettes. DISCUSSION: E-cigarette use is much less prevalent than smoking conventional tobacco cigarettes. There is a strong link between both. E-cigarette use had allowed a cessation or reduction in tobacco smoking in half of users. E-cigarette users may go on to start tobacco smoking but prospective surveys are needed to know how this will evolve over time. E-cigarette use could also be a means to prevent or postpone cigarette smoking.
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Sistemas Electrónicos de Liberación de Nicotina/estadística & datos numéricos , Fumar/epidemiología , Universidades/estadística & datos numéricos , Adolescente , Adulto , Femenino , Francia/epidemiología , Humanos , Masculino , Prevalencia , Estudiantes/estadística & datos numéricos , Adulto JovenRESUMEN
In patients treated for breast carcinoma, unilateral lymphedema of the upper limb is usual. However, to the authors' knowledge, lower limb lymphedema has never been reported as a complication of breast carcinoma therapy. They report here the first case of a radiation-induced constrictive pericarditis revealed by severe lower limbs lymphedema. A 60-year-old woman was treated for left breast carcinoma with quadrantectomy, axillary lymphadenectomy, and combined radio chemotherapy (60 grays). Three and a half years later she suffered from a diffuse and increasing lower limbs lymphedema, which became huge and disabling. Radiation-induced constrictive pericarditis was evidenced by right cardiac cavities catheterization. A dramatic improvement was rapidly obtained after pericardectomy. Histopathologic analysis of the pericardium did not reveal neoplastic cells. Radiation-induced constrictive pericarditis is usually responsible for lower limbs edema, but lymphedema is exceptional. This case highlights the need to search for a constrictive pericarditis also in the case of lower limbs lymphedema, particularly in a patient treated with mediastinal radiotherapy or combined radio chemotherapy.
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Neoplasias de la Mama/radioterapia , Carcinoma Ductal/radioterapia , Edema Cardíaco/etiología , Pierna , Linfedema/etiología , Pericarditis Constrictiva/complicaciones , Pericardio/efectos de la radiación , Traumatismos por Radiación/complicaciones , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Neoplasias de la Mama/tratamiento farmacológico , Neoplasias de la Mama/cirugía , Carcinoma Ductal/tratamiento farmacológico , Carcinoma Ductal/cirugía , Terapia Combinada , Edema Cardíaco/diagnóstico , Femenino , Humanos , Escisión del Ganglio Linfático , Metástasis Linfática , Linfedema/diagnóstico , Linfedema/cirugía , Mastectomía Segmentaria , Persona de Mediana Edad , Pericardiectomía , Pericarditis Constrictiva/diagnóstico , Pericarditis Constrictiva/cirugía , Complicaciones Posoperatorias/diagnóstico , Complicaciones Posoperatorias/etiología , Complicaciones Posoperatorias/cirugía , Traumatismos por Radiación/diagnóstico , Traumatismos por Radiación/cirugía , ReoperaciónRESUMEN
PURPOSE: The coexistence of mitochondrial myopathy and polymyalgia rheumatica without giant cell arteritis is an interesting association. The frequency of this association was assessed in a prospective study. PATIENTS AND METHODS: Muscle biopsy specimens were obtained from 15 patients with polymyalgia rheumatica. When ragged red fibers (RRF) were observed, histochemical, ultrastructural, and biochemical studies were performed. RESULTS: In five cases, we found the typical appearance of mitochondrial myopathy, with the presence of numerous RRF. Histochemical and biochemical results confirmed these mitochondrial myopathies, showing miscellaneous deficiencies of mitochondrial respiratory chain enzymes. CONCLUSION: Persistence of histologic and biochemical abnormalities after steroid treatment in two patients seems to indicate that a subclinical mitochondrial myopathy preceded polymyalgia rheumatica. How a mitochondrial myopathy could induce or facilitate the emergence of a polymyalgia rheumatica remains unknown.
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Mitocondrias Musculares/patología , Enfermedades Musculares/complicaciones , Polimialgia Reumática/complicaciones , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Persona de Mediana Edad , Mitocondrias Musculares/enzimología , Enfermedades Musculares/enzimología , Enfermedades Musculares/patología , Polimialgia Reumática/enzimología , Polimialgia Reumática/patología , Estudios ProspectivosRESUMEN
PURPOSE: To determine the prevalence of autoantibodies in patients with epilepsy and to find a possible relationship between antinuclear antibodies (ANA) and/or anticardiolipin (aCL) antibodies and epilepsy. PATIENTS AND METHODS: One hundred sixty-three consecutive, unselected patients followed at the Centre Saint-Paul, a French medical center specialized in epilepsy, were included in the study. IgG and IgM class aCL antibodies were measured by an enzyme-linked immunosorbent assay (ELISA). IgG class ANA was detected by an indirect immunofluorescence technique with Hep2 cells as the substrate. Sera from 100 healthy blood donors, matched for age and sex, were used as controls. RESULTS: In 31 sera, IgG class a aCL antibodies were detected at a value higher than 17 GPL unit (19%, P = 0.0003); 10 of them had a value higher than 35 GPL unit. IgM class aCL antibodies were not detected at a significant value. For 6 of the 31 sera, there was a beta 2-glycoprotein I dependence. None of the patients with aCL antibodies in the serum had a past history of deep venous or arterial thrombosis. ANA were detected in the sera from 41 patients (25%, P < 0.005). The presence of autoantibodies in the serum was not statistically dependent on the type of epilepsy, the kind of antiepileptic drug, or the age or sex of the patients. CONCLUSIONS: Our study suggests that there is a relationship between epilepsy and aCL antibodies, even in the patients without systemic lupus erythematosus. Large prospective studies are needed to define the role of the aCL antibodies and ANA in pathophysiology of epilepsy.
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Anticuerpos Anticardiolipina/sangre , Anticuerpos Antinucleares/sangre , Epilepsia/inmunología , Adolescente , Adulto , Anciano , Ensayo de Inmunoadsorción Enzimática , Femenino , Humanos , Inmunoglobulina G/sangre , Inmunoglobulina M/sangre , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , PrevalenciaRESUMEN
Infections and/or immune-mediated reactions may occur after intravesical instillation of bacillus Calmette-Guérin for the treatment of bladder carcinoma. We report herein a cryoglobulinemia vasculitis occurring after intravesical BCG instillation for a superficial papillary transitional cell bladder carcinoma. The patient, an 80-year-old man, presented peripheral ischemia 10 days after the second course of intravesical BCG instillation. Biological evaluation revealed autoimmune thrombocytopenia, hypergammaglobulinemia, low C3 and C4 complement fraction levels related to mixed cryoglobulinemia and lupus anticoagulant. The patient was treated with heparin and prostacyclins with a good outcome. All of the immune anomalies spontaneously regressed within 3 months. To our knowledge, cryoglobulinemia has only been reported once in the literature and lupus anti-coagulant has never been reported as a complication of intravesical BCG instillation.
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Adyuvantes Inmunológicos/efectos adversos , Vacuna BCG/efectos adversos , Crioglobulinemia/etiología , Vasculitis/etiología , Adenocarcinoma/tratamiento farmacológico , Adyuvantes Inmunológicos/administración & dosificación , Administración Intravesical , Anciano , Anciano de 80 o más Años , Vacuna BCG/administración & dosificación , Crioglobulinemia/inmunología , Humanos , Masculino , Neoplasias de la Vejiga Urinaria/tratamiento farmacológico , Vasculitis/inmunologíaRESUMEN
The visceral form of leishmaniasis caused by Leishmania infantum is frequently observed in Mediterranean countries, however otorhinolaryngeal involvement has only rarely been reported in the literature. We report here the case of a 23-year-old Cameroon man, resident in France since 1991, and presenting with recurrent epistaxis and an epiglottis tumoral lesion. The visceral form of leishmaniasis with hepatosplenomegaly and pancytopenia was diagnosed. Culture of the epiglottal lesion revealed L. infantum. Serological test for human immunodeficiency virus was negative and the patient was not on immunosuppressive drugs. Dramatic improvement was observed with antimony.
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Epiglotis/parasitología , Leishmania infantum/aislamiento & purificación , Leishmaniasis Visceral/diagnóstico , Adulto , Animales , Antimonio/farmacología , ADN Protozoario/análisis , Epiglotis/efectos de los fármacos , Epiglotis/patología , Hepatomegalia/diagnóstico , Hepatomegalia/patología , Humanos , Leishmania infantum/genética , Leishmania infantum/patogenicidad , Leishmaniasis Visceral/microbiología , Leishmaniasis Visceral/patología , Masculino , Esplenomegalia/diagnóstico , Esplenomegalia/patologíaRESUMEN
Many neurological syndromes associated with antigliadin antibodies have been published. The most frequent are cerebellar ataxia and peripheral neuropathy. Such cases are reported under the title of gluten ataxia or of coeliac neuropathy. However, associations do not prove cause. Herein, a short review is made of the literature and the author's personal experience. Many unsolved questions remain. Gluten sensitivity is probably an immunological response in genetically susceptible individuals with or without enteropathy. Antigliadin antibodies are present in healthy adults, in some idiopathic ataxias and neuropathies. A gluten-free diet is effective on gastrointestinal but not on neurological symptoms. Whether antigliadin antibodies are elevated is more of a waiting classification than a definite diagnosis. Finally, the relationship between antigliadin antibodies and neurological diseases is very weak.
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Anticuerpos/sangre , Gliadina/inmunología , Enfermedades Neuromusculares/sangre , Enfermedades Neuromusculares/etiología , Enfermedad Celíaca/sangre , Enfermedad Celíaca/complicaciones , Enfermedad Celíaca/inmunología , Ataxia Cerebelosa/sangre , Ataxia Cerebelosa/etiología , HumanosRESUMEN
Ambulatory EEG (A-EEG) allows longterm polygraphic recording over 24 hours or more and proves to be particularly useful in the diagnosis of narcolepsy-cataplexy (N/C). We performed A-EEG using the Medilog 9000-8 channel system over a total of 36 24-hour periods in 20 consecutive N/C patients and recorded an average of 3.5 daytime sleep episodes, of which 2.2 were with SOREMP, AND 21 evening SOREMP (58%). A MSLT was performed using A-EEG in 16 cases. Continuous A-EEG proved to be more informative than the MSLT, and may represent a valid alternative to the classic continuous polygraphic recordings performed in the sleep lab, that are more cumbersome and costly. Although a full-night polysomnographic recording is still necessary whenever other sleep disorders are suspected in association with N/C, A-EEG is a first-line, practical method for the confirmation of N/C, which remains a clinical diagnosis.
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Cataplejía/diagnóstico , Electroencefalografía , Monitoreo Ambulatorio/métodos , Narcolepsia/diagnóstico , Adolescente , Adulto , Anciano , Cataplejía/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Narcolepsia/complicaciones , Estudios RetrospectivosRESUMEN
In a patient suffering from rheumatoid arthritis, we report the first simultaneous occurrence of two side effects of low-dose methotrexate: an acute megaloblastic anaemia and a pneumonitis. A combination of methotrexate suspension, folinic acid and corticosteroids led to recovery. The correlation between the haematologic and pneumologic toxicity is discussed.
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Anemia Megaloblástica/inducido químicamente , Artritis Reumatoide/tratamiento farmacológico , Leucovorina/uso terapéutico , Enfermedades Pulmonares Intersticiales/inducido químicamente , Metotrexato/efectos adversos , Prednisolona/uso terapéutico , Enfermedad Aguda , Anemia Megaloblástica/tratamiento farmacológico , Humanos , Enfermedades Pulmonares Intersticiales/tratamiento farmacológico , Masculino , Persona de Mediana EdadRESUMEN
The authors report the case of a sixty-five year old woman initially suffering from a thrombocytopenia. The patient was diagnosed as having an autoimmune disease with a lupus anticoagulant, positive antinuclear antibodies and negative anti-DNA antibodies. She then developed an encephalopathy which was fatal despite corticosteroids. Brain pathology revealed a vasculitis with some giant cells, evoking a granulomatous angiitis of the central nervous system. These clinical and biological features suggest a systemic lupus erythematosus with vasculitis or a primary granulomatous angiitis of the central nervous system. Taking into account the clinical manifestations and the presence of a lupus anticoagulant, we finally preferred to identify it as a primary antiphospholipid antibodies syndrome, despite absence of anticardiolipin antibodies. Contrary to thrombosis, vasculitis is rarely associated with an anticardiolipin antibody or a lupus anticoagulant. However, vasculitis in the course of primary antiphospholipid antibodies syndrome has been reported previously as in this case report.
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Encefalopatías/etiología , Encefalopatías/patología , Inhibidor de Coagulación del Lupus/análisis , Lupus Eritematoso Sistémico/complicaciones , Trombocitopenia/etiología , Vasculitis/etiología , Vasculitis/patología , Corticoesteroides/uso terapéutico , Anciano , Encefalopatías/tratamiento farmacológico , Corteza Cerebral/patología , Resultado Fatal , Femenino , Humanos , Lupus Eritematoso Sistémico/diagnóstico , Trombocitopenia/fisiopatología , Vasculitis/tratamiento farmacológicoRESUMEN
Several mechanisms have been proposed to explain thrombotic tendency in Behçet's syndrome. We report the case of a 43-year old woman presenting retinal-vein thrombosis, factor XII deficiency and Behçet's syndrome. This kind of association has thus far never been reported. Factor XII deficiency is known to possibly induce various types of thrombosis and might explain the prevalence of ocular symptoms in our patient.
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Síndrome de Behçet/complicaciones , Deficiencia del Factor XII/complicaciones , Adulto , Síndrome de Behçet/diagnóstico , Deficiencia del Factor XII/diagnóstico , Femenino , Humanos , Trombosis/complicaciones , Trombosis/diagnósticoRESUMEN
We report two cases of fibromyalgia occurring during the course of a long-standing narcolepsy/cataplexy. This association is probably not fortuitous and we propose an easy clinical procedure to search for narcolepsy/cataplexy in these patients. Narcolepsy/cataplexy is a treatable condition requiring drugs that in turn may improve in the long-term symptoms of fibromyalgia.
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Cataplejía/diagnóstico , Fibromialgia/complicaciones , Narcolepsia/diagnóstico , Anciano , Cataplejía/complicaciones , Electroencefalografía , Femenino , Fibromialgia/diagnóstico , Humanos , Persona de Mediana Edad , Narcolepsia/complicaciones , Sueño REM/fisiologíaRESUMEN
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.
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Anticuerpos Antinucleares/inmunología , Enfermedades Profesionales/inducido químicamente , Exposición Profesional/efectos adversos , Polimiositis/inducido químicamente , Cloruro de Vinilo/efectos adversos , Anticuerpos Antinucleares/análisis , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Enfermedades Profesionales/inmunología , Polimiositis/diagnóstico , Medición de Riesgo , Síndrome , Factores de TiempoRESUMEN
Co-occurrent autoimmune disease and fragile X syndrome has been reported in the literature and we have therefore studied the expansion of Cytosine-Guanine-Guanine (CGG) repeat in FMR1 gene in a series of females with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome, with PCR and Southern blot methods. The average length of trinucleotide repeat was not increased in these female patients as compared with controls. These preliminary data on a short series of patients suggest a possible absence of trinucleotide repeat expansion abnormality associated with autoimmune diseases such as systemic lupus erythematosus and Sjögren's syndrome.
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Síndrome del Cromosoma X Frágil/genética , Lupus Eritematoso Sistémico/genética , Síndrome de Sjögren/genética , Expansión de Repetición de Trinucleótido/genética , Adulto , Anciano , Alelos , Southern Blotting , Femenino , Homocigoto , Humanos , Persona de Mediana Edad , Mutación , Reacción en Cadena de la Polimerasa , Polimorfismo GenéticoRESUMEN
We report the case of a 56-year-old man with severe normocomplementaemic primary urticarial vasculitis for 16 years. Nine and 11 years after the onset of the symptoms, he developed two severe neurological complications, seizure and transverse myelitis, that must be attributed to the vasculitis. Transverse myelitis has been reported in other systemic diseases, particularly lupus erythematosus, but this is the first case of transverse myelitis complicating urticarial vasculitis.
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Mielitis Transversa/etiología , Urticaria/complicaciones , Vasculitis Leucocitoclástica Cutánea/complicaciones , Enfermedad Aguda , Corticoesteroides/uso terapéutico , Técnica del Anticuerpo Fluorescente , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Mielitis Transversa/diagnóstico , Mielitis Transversa/tratamiento farmacológico , Urticaria/tratamiento farmacológico , Urticaria/patología , Vasculitis Leucocitoclástica Cutánea/tratamiento farmacológico , Vasculitis Leucocitoclástica Cutánea/patologíaRESUMEN
Polysplenia syndrome includes a group of congenital abnormalities involving the spleen, gastrointestinal tract, liver, and cardiovascular system. A case of severe lower limbs lymphedema occurring in a young woman with polysplenia, azygous continuation of the inferior vena cava, short pancreas, and preduodenal portal vein is reported. Lower limb lymphedema could represent a new clinical manifestation associated with polysplenia syndrome. Lymphedema could be the result of a primary anomaly of the lymphatic system or be induced by high pressure in the venous system or by compression of the lymphatic circulation by the hypertrophic azygous vessels in the posterior mediastinum.
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Anomalías Múltiples/diagnóstico , Hígado/anomalías , Linfedema/etiología , Bazo/anomalías , Adulto , Sistema Cardiovascular/fisiopatología , Enfermedad Crónica , Diagnóstico Diferencial , Anomalías del Sistema Digestivo , Femenino , Humanos , Pierna , Mediastino/anomalías , Vena Porta/anomalías , Índice de Severidad de la Enfermedad , Síndrome , Tomografía Computarizada por Rayos X , Vena Cava Inferior/anomalíasRESUMEN
Arterial reactivity leading to acute thrombosis at the site of a needle stick injury has never been described during antiphospholipid syndrome. The authors report a case characterized by a succession of thrombotic events occurring during or immediately after arterial angiographies or arterial surgery, in which catastrophic arterial reactivity can be strongly suspected. In this particular patient, it can be postulated that damage to the endothelial cells of the vessels injured during manipulation may have precipitated or aggravated the preexisting susceptibility to thrombosis.