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1.
J Urol ; 186(6): 2293-7, 2011 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-22014814

RESUMEN

PURPOSE: We examined the incidence of asymptomatic and symptomatic lower extremity venous thromboembolism in patients who underwent urological surgery for cancer, and identified preoperative and operative risk factors predictive of the thromboembolism. MATERIALS AND METHODS: A cohort of 583 consecutive patients undergoing urological cancer surgery was prospectively assessed using complete lower limb ultrasound at postoperative day 7 from January 2005 to July 2009. In all patients heparin and mechanical thromboprophylaxis were prescribed until complete ambulation. Potential variables predictive of venous thrombosis were analyzed. RESULTS: Complete data were available in 538 patients (463 male and 75 female), of whom 177 underwent nephrectomy, 86 radical cystectomy and 275 radical prostatectomy. A total of 40 deep venous thrombosis cases were found (7.4%), most of which were asymptomatic (92%) and limited to deep calf veins (80%). Of those asymptomatic deep venous thrombosis cases 86% were limited to deep calf veins. In all, 12 pulmonary embolisms were diagnosed, of which 4 were lethal. On multivariate analysis history of venous thromboembolism (OR 5.16, p = 0.02) and radical cystectomy (OR 3.47, p = 0.002) were independently associated with venous thromboembolism. CONCLUSIONS: Lower extremity venous thromboembolism has a high rate of occurrence after urological surgery for cancer despite the recommended venous thromboembolism prophylaxis. Most cases are asymptomatic and limited to deep calf veins. Our results suggest that complete lower limb ultrasound should be performed early after radical cystectomy and in patients with a personal history of venous thromboembolism.


Asunto(s)
Cistectomía , Extremidad Inferior/irrigación sanguínea , Nefrectomía , Complicaciones Posoperatorias/epidemiología , Prostatectomía , Tromboembolia Venosa/epidemiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/patología , Estudios Prospectivos , Factores de Riesgo , Neoplasias Urológicas/cirugía , Tromboembolia Venosa/patología
3.
Therapie ; 62(1): 45-8, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17374347

RESUMEN

AIMS: To establish the incidence of early adverse events surrounding direct current (DC) cardioversion of persistent atrial fibrillation in an unselected patient cohort and to describe and analyse these complications. METHODS: Prospective study over a three-month period (February, March and April 2000). Outcome measures included all serious adverse events during the hospitalisation for DC cardioversion. Six hundred and eighty-four DC cardioversion were performed on 659 patients. RESULTS: The rate of adverse events was 4.4% including 1.3% bradycardia, 0.3% ventricular arrhythmia, 0.3% QT increase, 1% serious haemorrhages, 0.4% death and 1.2% miscellaneous adverse events. CONCLUSION: The perceived tolerance to DC cardioversion in atrial fibrillation should be amended with the 4.4% serious early adverse events.


Asunto(s)
Fibrilación Atrial/complicaciones , Cardioversión Eléctrica/efectos adversos , Anciano , Arritmias Cardíacas/epidemiología , Arritmias Cardíacas/etiología , Fibrilación Atrial/fisiopatología , Fibrilación Atrial/terapia , Bradicardia/epidemiología , Bradicardia/etiología , Estudios de Cohortes , Femenino , Hemorragia/epidemiología , Hemorragia/etiología , Humanos , Síndrome de QT Prolongado/epidemiología , Síndrome de QT Prolongado/etiología , Masculino , Estudios Prospectivos , Resultado del Tratamiento
4.
Arthritis Res Ther ; 19(1): 60, 2017 03 20.
Artículo en Inglés | MEDLINE | ID: mdl-28320472

RESUMEN

BACKGROUND: The disruption of endothelial homeostasis is a major determinant in the pathogenesis of systemic sclerosis (SSc) and is reflected by soluble and cellular markers of activation, injury and repair. We aimed to provide a combined assessment of endothelial markers to delineate specific profiles associated with SSc disease and its severity. METHODS: We conducted an observational, single-centre study comprising 45 patients with SSc and 41 healthy control subjects. Flow cytometry was used to quantify circulating endothelial microparticles (EMPs) and CD34+ progenitor cell subsets. Colony-forming unit-endothelial cells (CFU-ECs) were counted by culture assay. Circulating endothelial cells were enumerated using anti-CD146-based immunomagnetic separation. Blood levels of endothelin-1, vascular endothelial growth factor (VEGF) and soluble fractalkine (s-Fractalkine) were evaluated by enzyme-linked immunosorbent assay. Disease-associated markers were identified using univariate, correlation and multivariate analyses. RESULTS: Enhanced numbers of EMPs, CFU-ECs and non-haematopoietic CD34+CD45- endothelial progenitor cells (EPCs) were observed in patients with SSc. Patients with SSc also displayed higher serum levels of VEGF, endothelin-1 and s-Fractalkine. s-Fractalkine levels positively correlated with CD34+CD45- EPC numbers. EMPs, s-Fractalkine and endothelin-1 were independent factors associated with SSc. Patients with high CD34+CD45- EPC numbers had lower forced vital capacity values. Elevated s-Fractalkine levels were associated with disease severity, a higher frequency of pulmonary fibrosis and altered carbon monoxide diffusion. CONCLUSIONS: This study identifies the mobilisation of CD34+CD45- EPCs and high levels of s-Fractalkine as specific features of SSc-associated vascular activation and disease severity. This signature may provide novel insights linking endothelial inflammation and defective repair processes in the pathogenesis of SSc.


Asunto(s)
Movimiento Celular , Quimiocina CX3CL1/sangre , Células Progenitoras Endoteliales/metabolismo , Esclerodermia Sistémica/metabolismo , Anciano , Antígenos CD34/metabolismo , Biomarcadores/sangre , Recuento de Células , Micropartículas Derivadas de Células/metabolismo , Células Progenitoras Endoteliales/patología , Endotelina-1/sangre , Ensayo de Inmunoadsorción Enzimática , Femenino , Citometría de Flujo , Humanos , Antígenos Comunes de Leucocito/metabolismo , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Esclerodermia Sistémica/sangre , Esclerodermia Sistémica/patología , Índice de Severidad de la Enfermedad , Factor A de Crecimiento Endotelial Vascular/sangre
6.
Presse Med ; 35(6 Pt 1): 941-7, 2006 Jun.
Artículo en Francés | MEDLINE | ID: mdl-16783251

RESUMEN

OBJECTIVES: Driving is an important part of everyday life for the elderly today. Older drivers are suspected to be involved in more automobile accidents than younger adults. Although healthcare professionals are aware of specific diseases and impairments that increase accident risks, they cannot distinguish safe from unsafe drivers among the healthy elderly population in general practice. Previous English studies of younger populations differentiate three main types of bad driving that are associated with accident involvement: violations, errors, and lapses. The aim of this study was to assess the driving behavior associated with car crashes in a healthy elderly population. METHOD: This prospective survey of healthy drivers aged 65 years or older living in the community asked subjects about their habitual driving and accident history in the past three years. Subjects also completed the French version of the Manchester Aging Driver Questionnaire, which contains 24 items, scored from 0 (never) to 5 (nearly all the time) and yields three sub-scales: errors, violations, and lapses. Simple logistic regression, adjusted for age and sex, was used to analyze associations between the questionnaire results and driving history. RESULTS: These elderly drivers (mean age: 69 years) reported primarily lapses (mean: 5.42) but also violations (mean: 3.76) and errors (mean: 2.12). In all, 237 drivers (27%) reported accidents: 29.4% of the men compared with 20.2% of the women (p<0.01). After adjustment for age and gender, the logistic regression showed four specific errors and one lapse to be associated with accidents: "Queuing to turn left onto main road, you pay such close attention to the main stream that you nearly hit the car in front" (OR: 1.71; 95% CI: 1.05-2.08); "On turning left, nearly hit a cyclist who has come up on your side" (OR: 1.58; 95% CI: 1.01-2.45); "Underestimate the speed of an oncoming vehicle when overtaking" (OR: 1.48; 95% CI: 1.09-2.02); "Brake too quickly on a slippery road, or steer the wrong way into a skid" (OR: 1.60; 95% CI: 1.15-2.29); and "Hit something when reversing that you had not previously seen" (OR: 1.73; 95% CI: 1.19-2.50). CONCLUSION: As previously reported, errors and lapses are more common than violations among healthy elderly drivers. Five specific actions were associated with accident risk. The ADQ is a short, simple survey questionnaire that is useful for screening bad driving behavior in elderly drivers and for promoting safe driving practice among them.


Asunto(s)
Accidentes de Tránsito/estadística & datos numéricos , Conducción de Automóvil , Estado de Salud , Encuestas y Cuestionarios , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Masculino , Vigilancia de la Población/métodos , Prevalencia , Factores de Riesgo
7.
Plast Reconstr Surg Glob Open ; 4(3): e660, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27257590

RESUMEN

BACKGROUND: Autologous adipose tissue injection is used in plastic surgery for correction of localized tissue atrophy and has also been successfully offered for treatment of localized scleroderma. We aimed to evaluate whether patients with systemic sclerosis (SSc) and facial handicap could also benefit from this therapy. METHODS: We included 14 patients (mean age of 53.8 ± 9.6 years) suffering from SSc with facial handicap defined by Mouth Handicap in Systemic Sclerosis Scale (MHISS) score more than or equal to 20, a Rodnan skin score on the face more than or equal to 1, and maximal mouth opening of less than 55 mm. Autologous adipose tissue injection was performed under local anesthesia using the technique of subcutaneous microinjection. The main objective of this study was an improvement of the MHISS score 6 months after the surgical treatment. RESULTS: The procedure was well tolerated. We observed a mean decrease in the MHISS score of 10.7 points (±5.1; P < 0.0001) at 6 months (35% improvement). Secondary efficacy parameters assessing perioral skin sclerosis, maximum mouth opening, sicca syndrome, and facial pain significantly improved at 3 and 6 months postsurgery. At a 6-month follow-up, 75% of patients were satisfied or very satisfied of the adipose tissue microinjection therapy. CONCLUSIONS: Our study suggests that subcutaneous perioral microfat injection in patients with SSc is beneficial in the treatment of facial handicap, skin sclerosis, mouth opening limitation, sicca syndrome, and facial pain. Thus, this minimally invasive approach offers a new hope for face therapy for patients with SSc.

8.
Ann Pathol ; 25(1): 45-9, 2005 Feb.
Artículo en Francés | MEDLINE | ID: mdl-15981931

RESUMEN

We report the case of a plasmablastic lymphoma involving the skin in a 45 year-old HIV-positive patient. Plasmablastic lymphoma was first described in 1997 and is considered to be a diffuse large B-cell lymphoma with a unique immunophenotype and a predilection for the oral cavity. In this case, the tumor was revealed by multiple purple cutaneous nodules predominantly localized on the trunk and proximal parts of the limbs. A skin biopsy led to the diagnosis of plasmablastic lymphoma in view of the presence of a dense nodular infiltrate invading the dermis and subcutaneous fat composed of large cells that expressed neither the leucocyte common antigen nor the B- and T-cell antigens CD20 and CD3, but which showed a strong immunostaining with plasma cell marker VS38c. Most of the cells expressed Kappa light chain of immunoglobulins, they did not express Lambda light chain. In situ hybridization with EBER probe revealed detection of Epstein Barr virus in about 15 % of tumor cells. The clinical course was aggressive and rapidly fatal. Despite one cycle chemotherapy the patient died four months after presentation. HIV-associated plasmablastic lymphoma is a poor prognosis malignancy that may resist typing due to the lack of expression of commonly used lymphoid markers.


Asunto(s)
Seropositividad para VIH/complicaciones , Linfoma Relacionado con SIDA/diagnóstico , Células Plasmáticas , Neoplasias Cutáneas/diagnóstico , Resultado Fatal , Humanos , Inmunofenotipificación , Linfoma Relacionado con SIDA/complicaciones , Linfoma Relacionado con SIDA/patología , Linfoma de Células B Grandes Difuso/complicaciones , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/patología , Masculino , Persona de Mediana Edad , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/patología
9.
Medicine (Baltimore) ; 82(6): 385-91, 2003 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-14663288

RESUMEN

The etiologic evaluation of pericardial effusion is frequently unsuccessful when noninvasive methods are used. To determine the cause of the current episode, all patients with echographically identified pericardial effusion from May 1998 to December 2002 underwent noninvasive diagnostic testing of blood, throat, and stool samples. Patients with postpericardiotomy syndrome were excluded. To analyze the value of our tests, we tested randomly selected blood donors as negative controls. Among 204 included patients, 107 (52.4%) had a final etiologic diagnosis: the etiology of 52 was highly suspected at first examination and later confirmed (thyroid deficiency, 5 cases; systemic lupus erythematous, 7; rheumatoid arthritis, 7; scleroderma, 3; cancer, 25; and renal insufficiency, 5). A definite etiologic diagnosis was made in 11 patients from pericardial fluid analysis (cancer, 5 cases; tuberculosis, 3; Streptococcus pneumoniae, Citrobacter freundii, and Actinomyces, 1 case each). Among 141 patients considered to have idiopathic pericarditis, 44 (32.1%) gained an etiologic diagnosis by our systematic testing strategy. This included serologic evaluation of serum (Coxiella burnetii, 10 cases; Bartonella quintana, 1; Legionella pneumophila, 1; Mycoplasma pneumoniae, 4; influenza virus, 1), viral culture of throat swabs (enterovirus, 8 cases; and adenovirus, 1), high-level antinuclear antibodies (>1/400, 3 cases), and thyroid-stimulating hormone (15 abnormal results). Antibodies to Toxoplasma and cytomegalovirus, enterovirus recovered from rectal swabs, and low-level antinuclear antibodies were seen with equal frequency in patients and controls. Using our evaluation strategy, the number of pericardial effusions classified as idiopathic was less than in other series. Systematic testing for Q fever, Mycoplasma pneumoniae, thyroid abnormalities, and antinuclear antibodies, accompanied by viral throat cultures, frequently enabled us to diagnose diseases not initially suspected in patients with pericardial effusion.


Asunto(s)
Derrame Pericárdico/diagnóstico , Derrame Pericárdico/etiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/complicaciones , Infecciones Bacterianas/diagnóstico , Estudios de Casos y Controles , Niño , Femenino , Humanos , Hipotiroidismo/complicaciones , Lupus Eritematoso Sistémico/complicaciones , Masculino , Persona de Mediana Edad , Neoplasias/complicaciones , Derrame Pericárdico/sangre , Pericarditis/sangre , Pericarditis/diagnóstico , Pericarditis/etiología , Valor Predictivo de las Pruebas , Estudios Prospectivos , Insuficiencia Renal/complicaciones , Esclerodermia Sistémica/complicaciones , Encuestas y Cuestionarios , Virosis/diagnóstico
10.
Clin Nucl Med ; 37(8): e209-10, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22785530

RESUMEN

We emphasize the role of Tc-99m-3,3-diphosphono-1,2-propanodicarboxylicacid (DPD) scintigraphy as a noninvasive tool to distinguish transthyretin (TTR)-related cardiac amyloidosis from other forms of cardiac amyloidosis. We report the case of a 76-year-old male patient suffering from congestive heart failure in whom imaging investigation by DPD scintigraphy showed a strong cardiac uptake highly suggestive of TTR amyloidosis variant. TTR-related cardiac amyloidosis was confirmed on myocardial biopsies by immunohistochemistry analysis. This case supports the growing interest in DPD scintigraphy for typing cardiac amyloidosis and for its contribution in the place of invasive myocardial biopsy.


Asunto(s)
Amiloidosis/diagnóstico por imagen , Huesos/diagnóstico por imagen , Difosfonatos , Corazón/diagnóstico por imagen , Compuestos de Organotecnecio , Prealbúmina/metabolismo , Anciano , Humanos , Masculino , Trazadores Radiactivos , Cintigrafía , Ultrasonografía
11.
J Adolesc Health ; 48(5): 520-2, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21501813

RESUMEN

PURPOSE: Recent studies show that low birth weight infants are at a risk of increased arterial blood pressure (BP) in adulthood. This study aimed to distinguish the influence of low birth weight either as a result of fetal growth restriction or preterm birth on arterial properties in adolescents. METHODS: The effect of low birth weight on BP and arterial stiffness was examined among 90 adolescents aged 14 years who were either born at term with an appropriate birth weight for gestational age (controls, n = 41); born preterm with an appropriate birth weight for gestational age (n = 25); or born at term and small for gestational age (SGA) (n = 24). The pulse wave velocity between the carotid and radial arteries was measured to assess arterial stiffness. RESULTS: As compared with control subjects, adolescents born with low birth weight as a result of preterm birth were found to have increased systolic BP and carotid-radial pulse wave velocity (117 ± 11 mm Hg vs. 123 ± 11 mm Hg, p = .04 and 7.0 ± .9 m/s vs. 7.7 ± 1.0 m/s, p = .01, respectively), whereas those who were born at term and SGA exhibited values similar to the controls (114 ± 15 mm Hg and 6.8 ± .9 m/s). CONCLUSION: Preterm birth, rather than being SGA at term, increases BP and arterial stiffness in adolescents.


Asunto(s)
Aterosclerosis/etiología , Arteria Carótida Común/fisiopatología , Retardo del Crecimiento Fetal , Hipertensión/etiología , Nacimiento Prematuro , Arteria Radial/fisiología , Adolescente , Aterosclerosis/diagnóstico , Aterosclerosis/epidemiología , Femenino , Francia/epidemiología , Humanos , Hipertensión/diagnóstico , Hipertensión/epidemiología , Recién Nacido de Bajo Peso , Recién Nacido
12.
BMJ Case Rep ; 20112011 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-22696632

RESUMEN

Invasive infections due to Aggregatibacter aphrophilus mainly include negative blood culture endocarditis and osteoarticular infections. The authors present herein a rare case of posterior septic arthritis related to A aphrophilus involving lumbar spine with contiguous abscesses of psoas and paravertebral muscles. The infection likely originated from oral cavity. A good outcome was observed after a prolonged and targeted antibiotherapy.


Asunto(s)
Artritis Infecciosa/microbiología , Infecciones por Haemophilus/microbiología , Haemophilus , Vértebras Lumbares , Absceso del Psoas/microbiología , Anciano , Antibacterianos/uso terapéutico , Artritis Infecciosa/diagnóstico , Artritis Infecciosa/tratamiento farmacológico , Artritis Infecciosa/etiología , Ceftriaxona/uso terapéutico , Infecciones por Haemophilus/complicaciones , Infecciones por Haemophilus/diagnóstico , Infecciones por Haemophilus/tratamiento farmacológico , Humanos , Vértebras Lumbares/microbiología , Masculino , Absceso del Psoas/diagnóstico , Absceso del Psoas/tratamiento farmacológico , Absceso del Psoas/etiología
13.
J Hypertens ; 29(6): 1023-33, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21346620

RESUMEN

Elevated large artery stiffness and pulse pressure have emerged as important risk factors for cardiovascular disease. The genders differ in large artery biomechanical properties throughout the lifespan with females displaying higher stiffness than males during the prepubertal years and a dramatic increase after menopause. Males on the other hand experience an increase in arterial stiffness postpuberty and a linear increase thereafter, suggesting that females have intrinsically stiffer large arteries than males, but that such effects are mitigated by sex steroids during the reproductive years. This review discusses anthropometric and sex steroid influences on gender differences in large artery stiffness and pressure dynamics from childhood to senescence. In particular, the sex-specific effects of estrogen, progesterone and testosterone on vascular structure and function and how these influence arterial stiffness are explored. These factors may contribute in part to the observed gender differences in the pathophysiology and clinical manifestations of cardiovascular disease.


Asunto(s)
Factores Sexuales , Túnica Íntima/fisiología , Adulto , Fenómenos Biomecánicos , Niño , Femenino , Humanos , Masculino
14.
Clin Physiol Funct Imaging ; 30(6): 453-9, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20718808

RESUMEN

INTRODUCTION: Systemic sclerosis (SSc) is characterized by the development of fibrosis of skin and internal organs that is associated with vascular damage. However, its related parameters have not been fully explored. The aim of this study was to investigate endothelial function in SSc and its relationship with systolic pulmonary artery pressure and systemic arterial compliance (SAC). METHODS: We studied 14 SSc females (4 with diffuse and 10 with limited cutaneous form of the disease) and 14 healthy controls matched for age and for cardiovascular risk factors. Endothelium-dependent dilation (i.e. flow-mediated) and endothelium-independent (i.e. nitroglycerin-induced) dilation of the brachial artery were measured as the percentage of change from baseline (FMD and NMD, respectively). In patients with SSc, SAC, cardiac output (CO), systemic arterial resistance and pulmonary artery pressure were estimated using echocardiography Doppler. RESULTS: Heart rate, brachial artery pressure and body mass index did not differ between patients with SSc and controls. Flow-mediated vasodilation (FMD) and NMD were significantly decreased in patients with SSc (10.3 ± 8.6 versus 26.6 ± 7.4%, P<0.001; 24.2 ± 8.4 versus 33.3 ± 10.1%, P<0.001, respectively). Postischaemia reactive hyperaemia was lower in patients with SSc (275 ± 185 versus 618 ± 366%, P<0.001). FMD and nitrate-mediated dilation (NMD) were associated with CO, but not with SAC; moreover, FMD correlated with pulmonary artery pressure and peripheral arterial resistance conversely to NMD. CONCLUSIONS: Endothelium function in SSc is impaired independently to SAC. Furthermore, the severity of both small artery and pulmonary artery involvement may impact on endothelium-dependent function.


Asunto(s)
Endotelio Vascular/fisiopatología , Hemodinámica , Esclerodermia Difusa/fisiopatología , Esclerodermia Limitada/fisiopatología , Administración Sublingual , Anciano , Presión Sanguínea , Arteria Braquial/fisiopatología , Gasto Cardíaco , Estudios de Casos y Controles , Adaptabilidad , Ecocardiografía Doppler , Endotelio Vascular/diagnóstico por imagen , Endotelio Vascular/efectos de los fármacos , Femenino , Francia , Hemodinámica/efectos de los fármacos , Humanos , Hiperemia/fisiopatología , Persona de Mediana Edad , Nitroglicerina/administración & dosificación , Arteria Pulmonar/fisiopatología , Esclerodermia Difusa/diagnóstico por imagen , Esclerodermia Limitada/diagnóstico por imagen , Ultrasonografía Doppler , Resistencia Vascular , Vasodilatación , Vasodilatadores/administración & dosificación
15.
BMJ Case Rep ; 20102010 Oct 18.
Artículo en Inglés | MEDLINE | ID: mdl-22790283

RESUMEN

Bone and joint infections due to Streptococcus pneumoniae usually occur in patients who are immunocompromised, and involve one site. The unique case of a 49-year-old immunocompetent man, with an unremarkable medical history, with septicaemia and polyarticular septic arthritis involving the shoulder and knee and with cervical spondylodiscitis due to S pneumoniae, is described. In this case, S pneumoniae probably originated from the gingiva, which is commonly colonised in children and adults. S pneumoniae should be considered routinely when facing bone and joint infections, and multiple locations should be carefully sought owing to the possible lack of symptoms.


Asunto(s)
Artritis Infecciosa/diagnóstico , Vértebras Cervicales , Discitis/diagnóstico , Articulación de la Rodilla , Infecciones Neumocócicas/diagnóstico , Sepsis/diagnóstico , Articulación del Hombro , Artritis Infecciosa/inmunología , Vértebras Cervicales/patología , Diagnóstico Diferencial , Encía/microbiología , Gingivitis/diagnóstico , Gingivitis/inmunología , Humanos , Inmunocompetencia/inmunología , Disco Intervertebral/patología , Articulación de la Rodilla/patología , Imagen por Resonancia Magnética , Masculino , Mandíbula/patología , Persona de Mediana Edad , Infecciones Neumocócicas/inmunología , Sepsis/inmunología , Articulación del Hombro/patología
16.
J Rheumatol ; 37(2): 351-8, 2010 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-20032097

RESUMEN

OBJECTIVE: Systemic sclerosis (SSc) is a life-threatening autoimmune disease characterized by chronic fibrosis of the skin and internal organs. Connective tissue growth factor (CTGF) is believed to be a primary mediator of chronic fibrosis. We assessed the possible association between 7 single-nucleotide polymorphisms (SNP) in the CTGF gene and scleroderma in a French population (registration number 2006/0182). METHODS: We conducted a case-control study with 241 scleroderma patients and 269 controls. Seven SNP were genotyped using the TaqMan system. Univariate and multivariate analyses were performed. In silico electrophoretic mobility shift assay (EMSA), and reverse transcriptase polymerase chain reaction analyses were done to assess the effect of the SNP on CTGF gene expression. RESULTS: The frequency of the rs9399005TT genotype was significantly lower in SSc patients than in controls. This association remained significant after adjustment for gender. An association was detected between the rs9399005 and the diffuse and limited cutaneous forms. Multivariate analysis between SSc patients and controls taking into account all 7 SNP and sex revealed that only sex and the rs9399005 SNP were associated with disease. DNA analysis by EMSA indicated that the T allele bound nuclear factors that were also bound by the C allele. The binding affinity was higher for the T allele. Analysis of the human database and experiments with human hepatocyte cell line indicated the existence of an alternative transcript containing the rs9399005 polymorphism in its 3'UTR region. In silico analysis indicated that this polymorphism may alter the structure of CTGF messenger RNA. CONCLUSION: These findings suggest that CTGF gene polymorphisms may contribute to susceptibility to scleroderma.


Asunto(s)
Factor de Crecimiento del Tejido Conjuntivo/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Esclerodermia Sistémica/genética , Alelos , Estudios de Casos y Controles , Distribución de Chi-Cuadrado , Ensayo de Cambio de Movilidad Electroforética , Femenino , Francia , Genotipo , Humanos , Masculino , Análisis de Regresión , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Factores Sexuales
17.
Eur J Intern Med ; 21(2): 114-7, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20206882

RESUMEN

BACKGROUND: Anti-RNA polymerase III antibodies (anti-RNAP III) have been reported as potential immune markers of Systemic Sclerosis (SSc). Until now, their clinical use was disregarded because of technical difficulties to perform immunoprecipitation. Recently, ELISA kits became commercially available allowing an easy detection of anti-RNAP III. We intended to clarify the relevance of these antibodies in the diagnosis of SSc by ELISA detection. METHODS: The prevalence of anti-RNAP III was analyzed using two ELISA kits in 50 consecutive SSc patients from Marseilles in South of France. Controls included 66 patients with other systemic autoimmune diseases, 34 viral diseases and 50 healthy subjects. Positive results with at least one ELISA kit were controlled by immunoprecipitation which is the reference assay. RESULTS: In this study, positivity for anti-centromere and/or anti-topoisomerase I antibodies was observed in 84% of SSc patients. The prevalence of anti-RNAP III in SSc patients was 0% to 6% (3/50) depending on the ELISA kit and only 2% by immunoprecipitation. Concerning controls, two rheumatoid arthritis patients were positive using ELISA (6%), including one with immunoprecipitation confirmation. No anti-RNAP III was detected in systemic lupus erythematosus patients. Three blood donors and one viral disease control were positive using ELISA, but all were negative by immunoprecipitation. CONCLUSIONS: Anti-RNAP III was rarely detected in a French population of SSc patients. Their prevalence was even lower than the one observed in rheumatoid arthritis controls. Therefore local immunologic profiles should be established before deciding a change in clinical practice for SSc immune screening.


Asunto(s)
ARN Polimerasa III/inmunología , Anciano , Anticuerpos Antinucleares/sangre , Artritis Reumatoide/inmunología , Autoanticuerpos/sangre , Estudios de Casos y Controles , Centrómero/inmunología , ADN-Topoisomerasas de Tipo I/inmunología , Ensayo de Inmunoadsorción Enzimática , Femenino , Francia/epidemiología , Humanos , Inmunoprecipitación , Masculino , Persona de Mediana Edad , Prevalencia , ARN Polimerasa III/genética , Esclerodermia Sistémica/diagnóstico , Esclerodermia Sistémica/epidemiología , Esclerodermia Sistémica/inmunología
20.
BMJ Case Rep ; 20092009.
Artículo en Inglés | MEDLINE | ID: mdl-21887159

RESUMEN

The present report concerns the first case of a spontaneous arterial coronary dissection in adult onset homocystinuria leading to a premature myocardial infarct. The patient had also presented an unexplained lower limb venous thrombosis at the age of 41. A carotid artery thrombosis was found at the aged of 61 during the investigations for facial nerve palsy. The diagnosis of homocystinuria was delayed as it was only performed 20 years after the first thrombotic event. From observation, a pectus carinatum was the only clinical characteristic that could be related to homocystinuria phenotype. Cystathionine ß-synthase (CBS) gene analysis showed compound heterozygous mutations. After 3 months of pyridoxine, the plasma homocysteine level was totally normalised.

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