RESUMEN
BACKGROUND: The contribution of methylglyoxal (MGO) and soluble receptor for advanced glycation end products (sRAGE) in the presence of rheumatoid arthritis (RA) is still unknown. We investigated whether serum MGO and sRAGE were related to the presence of disease activity in RA. METHODS: 80 patients with RA and 30 control subjects were included in a cross-sectional study. The severity of RA was assessed using the disease activity score for 28 joints (DAS28). Serum MGO and sRAGE were measured by ELISA. RESULTS: Serum MGO levels were significantly higher in patients with RA versus control subjects (P < 0.001) and were increased in RA patients with higher disease activity versus RA patients with moderate disease activity (P = 0.019). Serum sRAGE concentrations were significantly decreased in RA patients with higher disease activity versus RA patients with moderate disease activity and versus control subjects (P = 0.004; P = 0.002, resp.). A multiple logistic regression analysis demonstrated that MGO was independently associated with the presence of activity disease in RA (OR = 1.17, 95% CI: 1.02-1.31, P = 0.01). CONCLUSION: Serum MGO and sRAGE levels are inversely related to the activity of RA, and MGO is independently associated with a higher disease activity of RA.
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Artritis Reumatoide/sangre , Biomarcadores/sangre , Productos Finales de Glicación Avanzada/sangre , Piruvaldehído/sangre , Adulto , Estudios Transversales , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Índice de Severidad de la EnfermedadRESUMEN
Background There are limited data regarding the contribution of advanced glycation end products in the presence of rheumatoid arthritis. We investigated whether serum NÉ-carboxymethyllysine and pentosidine were related to the presence and the severity of rheumatoid arthritis. Methods Eighty patients with rheumatoid arthritis and 30 control subjects were included in a cross-sectional study. The severity of rheumatoid arthritis was assessed using the disease activity score for 28 joints. Serum NÉ-carboxymethyllysine and pentosidine were measured by enzyme-linked immunosorbent assay. Results Serum NÉ-carboxymethyllysine and pentosidine concentrations were significantly higher in patients with rheumatoid arthritis vs. control subjects ( P < 0.001). Serum NÉ-carboxymethyllysine and pentosidine concentrations were significantly higher in rheumatoid arthritis patients with high disease activity vs. rheumatoid arthritis patients with moderate disease activity ( P < 0.001, P = 0.019, respectively). A multiple logistic regression analysis demonstrated that NÉ-carboxymethyllysine was independently associated with the presence of rheumatoid arthritis (OR = 1.21, 95% CI: 1.05-1.39, P = 0.006). Furthermore, in a multivariate stepwise regression analysis, NÉ-carboxymethyllysine was independently correlated with disease activity score for 28 joints (standardized ß = 0.43, P = 0.001). Conclusion Serum NÉ-carboxymethyllysine and pentosidine were increased during rheumatoid arthritis, and NÉ-carboxymethyllysine was independently associated with the presence and the severity of rheumatoid arthritis.
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Artritis Reumatoide/sangre , Artritis Reumatoide/patología , Biomarcadores/sangre , Lisina/análogos & derivados , Adulto , Arginina/análogos & derivados , Arginina/sangre , Estudios de Casos y Controles , Estudios Transversales , Ensayo de Inmunoadsorción Enzimática/métodos , Femenino , Humanos , Lisina/sangre , Masculino , Persona de Mediana Edad , Índice de Severidad de la EnfermedadAsunto(s)
Antituberculosos/efectos adversos , Isoniazida/efectos adversos , Lupus Eritematoso Sistémico/inducido químicamente , Tuberculosis Ganglionar/tratamiento farmacológico , Adulto , Antituberculosos/administración & dosificación , Femenino , Glucocorticoides/administración & dosificación , Humanos , Isoniazida/administración & dosificación , Lupus Eritematoso Sistémico/fisiopatologíaRESUMEN
The aim of this study was to determine the impact of combat sports practice on bone mineral density (BMD) and to analyze the relationship between bone parameters and anthropometric measurements, bone markers, and activity index (AI). In other words, to detect the most important determinant of BMD in the adolescent period among combat sports athletes. Fifty athletes engaged in combat sports, mean age 17.1±0.2 yr, were compared with 30 sedentary subjects who were matched for age, height, and pubertal stage. For all subjects, the whole-body BMD, lumbar spine BMD (L2-L4), and BMD in the pelvis, arms, and legs was measured by dual-energy X-ray absorptiometry, and anthropometric measurements were evaluated. Daily calcium intake, bone resorption, and formation markers were measured. BMD measurements were greater in the combat sports athletes than in the sedentary group (p<0.01). Weight, body mass index, and lean body mass were significantly correlated with BMD in different sites. Daily calcium consumption lower than daily calcium intake recommended in both athletes and sedentary group. AI was strongly correlated with all BMD measurements particularly with the whole body, legs, and arms. Negative correlations were observed between bone markers and BMD in different sites. The common major predictor of BMD measurements was AI (p<0.0001). AI associated to lean body mass determined whole-body BMD until 74%. AI explained both BMD in arms and L2-L4 at 25%. AI associated to height can account for 63% of the variance in BMD legs. These observations suggested that the best model predicting BMD in different sites among adolescent combat sports athletes was the AI. Children and adolescents should be encouraged to participate in combat sports to maximize their bone accrual.
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Atletas , Densidad Ósea , Absorciometría de Fotón/métodos , Adolescente , Antropometría/métodos , Conservadores de la Densidad Ósea/metabolismo , Resorción Ósea/metabolismo , Boxeo/fisiología , Calcio de la Dieta/metabolismo , Estudios Transversales , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Artes Marciales/fisiología , Conducta Sedentaria , Estadística como Asunto , TúnezRESUMEN
BACKGROUND: Diagnostic discordance for osteoporosis is the presence of different categories of T-scores in 2 skeletal sites of an individual patient, falling into 2 different diagnostic categories identified by the World Health Organization classification. AIM: To determinate the prevalence and risk factors for T-score discordance between spine and hip measurement sites. METHODS: Demographic data, anthropometric measurements, and risk factors for osteoporosis were derived from a database of 1780 patients referred to the outpatient osteoporosis testing center of the departement of Rheumatology between September 2006 and February 2010. Bone mineral density (BMD) was performed by Dual-energy x-ray absorptiometry (DXA) on L1-L4 lumbar spine and total hips for all cases. Minor discordance was considered when the difference between 2 sites was no more than 1 World Health Organization diagnostic class. Major discordance was present when 1 site is osteoporotic and the other is normal. RESULTS: In 1780 participants (1606 women and 174 males; mean age, 59.5 ± 14.3 years), concordance of T-scores, minor discordance, and major discordance were seen in 49.4%, 45.7%, and 4.8% of the cases, respectively. In both minor and major discordance BMD was lower in lumbar spine than total hips. In univariate and multivariate logistic regression analysis only menopause was identified as risk factors against T-score discordance with p<0.001 and [OR=5.47; IC: 2.61- 12.79]. The others factors: age, gender, BMI, fracture history, corticotherapy, rheumatoid arthritis, tobacco and diabetes were not associated with the T-score discordance. CONCLUSION: Clinicians should expect that at least half of patients tested by DXA will demonstrate T-score discordance between spine and total hip measurement sites. T-score discordance can occur for a variety of reasons related to physiologic and pathologic patient factors as well as the performance or analysis of DXA itself.
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Absorciometría de Fotón/normas , Densidad Ósea , Osteoporosis/diagnóstico por imagen , Anciano , Femenino , Cadera , Humanos , Masculino , Persona de Mediana Edad , Osteoporosis/epidemiología , Osteoporosis/etiología , Prevalencia , Reproducibilidad de los Resultados , Factores de Riesgo , Columna VertebralRESUMEN
BACKGROUND: Outcome in multiple myeloma (MM) is very heterogeneous in survival and therapeutic response, constantly fatale despite her therapy progress. AIM: To determine the prognostic factors and survival in MM. METHODS: We carried out a transversal study of 100 patients in the rheumatology department of hospital Monastir between 1991 and 2010. In each case we determinate the survival delay and also the clinical, laboratory, radiological data at diagnosis and therapeutic response. RESULTS: The mean age was 64.4 years and sex ratio H/F=1.27. MM is IgG type in 57%, IgA in 28% and light chain in 11% of cases. The survival mean is 34 months and the survival median is 26 months. Univariate analysis showed five prognostic factors: age (p = 0.016), anaemia (p=0.033), ß2 microglobulin ( p < 0.0001) , CRP (p = 0.0001), albumin (p = 0.002), LDH (p=0.001), plasmocyte proliferation rate (p=0.003) and rapidly therapeutic response (p <0.001). ß2 microgrobulin-CRP classification and the international staging system (ISS) presented a high prognosis signification (p < 0.0001). Multivariate analysis demonstrated two prognostic factors: ß2 microglobulin and CRP. CONCLUSIONS: Our study showed that MM presented many prognostic factors, which easily realised in daly practice. These prognostic factors are essentially to evaluate prognosis and select patients for appropriate therapeutic indication. ß2 microgrobulin- CRP classification and the international staging system (ISS) are more predictive than Durie Salmon classification in MM survival.
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Mieloma Múltiple/mortalidad , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Prospectivos , Estudios Retrospectivos , Tasa de SupervivenciaRESUMEN
BACKGROUND: Cervical spine (CS) involvement is common during rheumatoid arthritis (RA) and it is distinguished by its potential gravity. AIM: To determinate the occurrence of atlantoaxial subluxation (AAS) by dynamic incidences X-Ray and to assess its predictive factors. METHODS: Our study included a cohort of 40 patients carrying RA, who fulfilled the American College of Rheumatology criteria, for more than 2 years. All patients had a complete physical and laboratory evaluation. Radiological evaluation included CS radiographs in anteroposterior, lateral, and lateral in full flexion and extension views. RESULTS: The occurrence of CS involvement was about 47.5% by XRay dominated by AAS which found in 42,5% of the cases. Among AAS, anterior AAS was the most frequent with a prevalence of 22,5% followed by lateral AAS in 12,5% then vertical and rotatory AAS in 10% of cases each one and posterior AAS in 2,5% of the cases. Comparison between patients with and without CS involvement indicated the presence of two predictive factors: the sharp modified score and the C - reactive protein (p=0.002 and p=0.004 respectively). CONCLUSION: Our study demonstrated that AAS is frequent in RA particularly in active forms with structural lesions. AAS can be asymptomatic, for this reason systematic diagnosis by X-Ray with dynamic views is important.
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Artritis Reumatoide/complicaciones , Articulación Atlantoaxoidea/diagnóstico por imagen , Articulación Atlantoaxoidea/lesiones , Luxaciones Articulares/diagnóstico por imagen , Luxaciones Articulares/etiología , Adulto , Anciano , Anciano de 80 o más Años , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , RadiografíaRESUMEN
The aim of this study was firstly to investigate the correlation between bone parameters and grip strength (GS) in hands, explosive legs power (ELP), and hormonal parameters; second, to identify the most determinant variables of bone mineral density (BMD) among adolescent combat sport athletes. Fifty combat sport athletes aged 17.1 ± 0.2 year were compared with 30 sedentary subjects matched for age, height, and pubertal stage. For all subjects, the BMD in deferent sites associated with anthropometric parameters were measured by dual-energy X-ray absorptiometry. The growth hormone (GH) and testosterone (TESTO) concentrations were tested. The GS in dominant (GSDA) and nondominant arms (GSNDA) and ELP were evaluated. All BMD measured were greater in athletes than in sedentary group (p<0.01). The GS and ELP showed higher values in athletes than in sedentary group (p<0.01). The BMD in all sites were correlated with weight, but without correlation with height. The GSNDA and ELP were significantly correlated with BMD of both spine and legs. The GH was correlated with the BMD of whole body and spine (p<0.05). The TESTO was only correlated with BMD of the arms (p<0.01). The best predictor of BMD measurements is GSNDA. This study has proved the osteogenic effect of combat sports practice, especially judo and karate kyokushinkai. Therefore, children and adolescent should be encouraged to participate in combat sport. Moreover, it suggested that the best model predicting BMD in different sites among adolescent combat sports athletes was the GSNDA.
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Densidad Ósea , Fuerza de la Mano , Artes Marciales/fisiología , Absorciometría de Fotón , Adolescente , Estudios Transversales , Hormona del Crecimiento/sangre , Humanos , Testosterona/sangreRESUMEN
BACKGROUND: Bone loss in celiac disease (CD) is important and is associated to increased risk of fractures. The determining factors of this Bone loss and the osteoporosis fracture during this disease remain still unknown. The bone remodeling parameters seem to play it an important role. AIM: Through a transverse study including 30 patients with adult CD and 30 witnesses, we estimated bone mineral density (BMD) profile of these patients and determined associated factors to the bone loss. METHODS: Patients and witnesses benefited from an BMD measure, serum calcium and phosphore, alkaline phosphatasis, parathormone and hydroxyvitamin D dosage, bone remodeling parameters containing the osteocalcin, Propeptide N-terminal of the type I procollagen, BTélopeptide C-terminal ( B-CTX) of the type I procollagen I (bloody and urine CrossLaps). The patients benefited from a malabsorption bilan, a radiological examination of spine and an evaluation of the adhesion to the regime without gluten with a histological control. RESULTS: Our population consists of 3 men (10 %) and 27 women (90 %) with an average age of 30.4 years (19-50 years). The average delay of the diagnosis of the MC is of 46.7 months. The alkaline phosphatases, the P1NP and the bloody crossLaps were more raised at the patient's with regard to the witnesses with respectively p=0.038, p=0.041 and p=0.021. The parathormone was also more raised at the patients but without significant difference 67.8 vs 53.8 ng / l. The DMO is low at 21 patients (70 %) versus 2 witnesses only (6.6 %), with an osteoporosis in 3 patients (10 %) and an osteopenia in 18 patients (60 %). Factors associated to the BMD decline are low body mass index, nulliparity, diagnostic delay > to 2 years, the malabsorption syndrome, exaggerated intraepithelial lymphocytosis at the time of the histological control, an increase of bone remodeling parameters notably the alkaline phosphatasis, osteocalcin and bloody CrossLaps. While the BMD is more raised at the patient's having followed gluten regimens during more than 5 years. The age, the sex, the symptomatic character or not of the disease, the parathormone, hydroyviamin D and fractures are not correlated to the BMD profile patients. CONCLUSION: The bone loss is more frequent during the adult CD than in the general population. His research has to become integrated into the coverage of this disease notably in the presence of risk factors. The absence of correlation between BMD loss and fractures underlines the importance of others factors in determining of bone fragility during this affection.
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Enfermedad Celíaca/complicaciones , Osteoporosis/etiología , Adulto , Densidad Ósea , Estudios de Casos y Controles , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prevalencia , Estudios Prospectivos , Adulto JovenRESUMEN
BACKGROUND: Ankylosing Spondylarthritis (AS) involves by its frequency and its repercussion on the functional capacity an important handicap and deterioration of the patients quality of life. AIMS: To evaluate the handicap and the quality of life during the AS and to seek the predictive factors of the deterioration of this quality of life. METHODS: A prospective study relating to 50 patients recruited in the Department of Rheumatology of F. B. Hospital of Monastir during 6 months period (Mars to September 2008). The studied parameters were the quality of life evaluated by a specific sore (ASQOL) and a generic score (SF-12). Also the physical, social and economic felt handicap was evaluated using a qualitative scale. Predictive factors (clinical, biological and radiological) of the quality of life were carried out. RESULTS: Our patients are divided in 42 men and 8 women with an average age of 38.9 ± 10.7 years. The average duration of AS is of 11.9 ± 7.6 years. The average of ASQOL is of 11.9 ± 4 (extremes: 0- 17). The average of physical SF12 is of 29.8 ± 6 (21.7-53.2) and of mental SF-12 of 35.3 ± 6.6 (22.5-55.8). The physical, social and economic felt handicap was considered to be average or important in respectively 88%, 72% and 86% of the cases. The predictive factors of a high ASQOL (faded quality of life) are absence of occupation, high BASMI, a high number of painful articulations and high BASFI, BASDAI, BASG, BASRI and EVA total pain. The factors associated to the alteration of the quality of life according to SF-12'S are male sex, professional statute, high number of painful articulations and high BASDAI, BASFI and BASRI. CONCLUSION: Our study shows the important deterioration of the quality of life in AS patients. The existence of the predictive factors of quality of life primarily related to the functional capacity of the patients and to the disease activity implicates an early and adequate disease management in order to decrease this repercussion.
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Calidad de Vida , Espondilitis Anquilosante/fisiopatología , Actividades Cotidianas , Adulto , Femenino , Humanos , Masculino , Ocupaciones , Dolor/complicaciones , Dolor/etiología , Pronóstico , Estudios Prospectivos , Espondilitis Anquilosante/complicacionesRESUMEN
This study aims to assess the prevalence of dyslipidaemia in Tunisian patients with active RA and to investigate the clinical and biological associated factors. A cross-sectional study was conducted on 92 unselected patients with active RA (77 females and 15 males, aged 49.1 ± 12.5 years) and 82 healthy subjects (68 females and 14 males, aged 50.8 ± 13.3 years). We recorded the patients' characteristics and the results of a lipid profile test (total cholesterol, TC; high-density lipoprotein cholesterol, HDL-c; low-density lipoprotein cholesterol, LDL-c; triglyceride, TG; lipoprotein (a), Lp (a); apolipoprotein A-1, apo A-1 and apolipoprotein B, apo B). In comparison to the control group, RA patients showed a higher prevalence of associated dyslipidaemia (95.7% versus 65.9% of cases, p < 0.001). Sera of patients showed higher TC (4.86 ± 1.07 versus 3.98 ± 0.73 mmol/L, p < 0.001), LDL-c (3.49 ± 0.98 versus 1.99 ± 0.62 mmol/L, p < 0.001), Lp (a) (288.04 ± 254.59 versus 187.94 ± 181.37 mmol/L, p = 0.004) and lower HDL-c (0.66 ± 0.24 versus 1.12 ± 0.3 mmol/L, p < 0.001). TC/HDL-c, LDL-c/HDL-c and non-HDL-c/HDL-c were also higher in RA patients; they were 8.24 ± 3.20 versus 3.76 ± 1.26 (p < 0.001), 5.91 ± 2.48 versus 1.92 ± 0.99 (p < 0.001) and 7.24 ± 3.20 versus 2.76 ± 1.26 (p < 0.001), respectively. Apo A-1 was correlated to Lp (a) (r = 0.291, p = 0.005). Corticoid dose was not associated to dyslipidaemia, but in multiple regression models, corticoid dose may be negatively related to some atherogenic markers, in particular non-HDL-c. Tunisian patients with markedly active RA experience substantially reduced serum HDL-c and increased TC, LDL-c and Lp (a) concentrations as well as increased TC/HDL-c, LDL-c/HDL-c and non-HDL-c/HDL-c ratios.
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Artritis Reumatoide/sangre , Hiperlipidemias/sangre , Lípidos/sangre , Artritis Reumatoide/epidemiología , Comorbilidad , Estudios Transversales , Femenino , Hospitales de Enseñanza , Humanos , Hiperlipidemias/epidemiología , Masculino , Persona de Mediana Edad , Prevalencia , Túnez/epidemiologíaRESUMEN
BACKGROUND: The fracture risk assessment tool (FRAXTM), published in February 2008, is developed based on the use of clinical risk factors with or without bone mineral density tests. AIM: To calculate the FRAX tool in a cohort of Tunisian patients in whom bone mineral density (BMD) was assessed by dual X ray absorptiometry (DXA); to correlate this score to osteoporotic fracture and to BMD assessment and to propose a threshold for therapeutic intervention. METHODS: In a cross sectional study of 582 patients older than 40 years, in whom a BMD measurement by DXA has been performed between January 2006 and December 2009, clinical risk factor for osteoporotic fracture and the occurrence of a prior fragility fracture were assessed. The French version of the FRAX tool was used. Threshold for pharmacological intervention was evaluated by ROC curve. RESULTS: Patients were aged 62.3 ± 10.4 years. They were female in 91.2% of cases. BMD measurement was under 2.5 standard deviation in 53.2%. Osteopenia was noted in 29.2% of cases and BMD was normal in 17.4 % of cases. Osteoporotic fractures were observed in 38.2% of cases. Major osteoporotic fractures (FOM) (hip, vertebra, radius occurred in 82% of cases. The FRAX® score calculated with T-score was 8.55 ± 8.54% for the FOM and 3.02 ± 6.37% for femoral neck (FN), while it was 7.81 ± 6.45% for the FOM and 2.58 ± 3.97% for the FN if calculated without T-score with a significant difference (p <10-3). For the patients having T-score under 2.5 SD, FRAX score was 11.39 ± 10.32% for the FOM and 4.74 ± 8.13% for the FN if calculated with T-score and it was 9.18 ± 6.95 % for the FOM and 3.19 ± 4.11 % if calculated without T-score. The score FRAX was correlated to BMD (r=0,53, p <10-3) and to fracture prevalence (p < 10-3). The threshold of therapeutic intervention was fixed to 30% for the FOM and 7% for the FN. CONCLUSION: Our study confirms the usefulness of the FRAX score in the prediction of fracture risk in Tunisian population. The determination of therapeutic threshold intervention requires other prospective and larger studies with medico-economic analyses.
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Densidad Ósea , Fracturas Óseas/prevención & control , Medición de Riesgo/métodos , Absorciometría de Fotón , Estudios de Cohortes , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , TúnezRESUMEN
BACKGROUND: Ochronosis of alkaptonuria is a rare hereditary autosomal recessive disease in which there is an absence of homogentisic acid oxidase resulting in accumulation of homogentisic acid in tissues. AIM: To report a new case of alkaptonuria CASE REPORT: A 49-year-old man had been followed for 4 years for chronic lombalgia and arthropaty of two knees. He is married to his cousin and father of 4 girls. His parents are also cousins. The clinical examination has found a cutaneuous pigmentation and a lumbar stiffness. At biological checking, creatininemia was at 190 µmol/L and there are not inflammatory indicators. The radiography have shown a discal dorsolumbar calcifications, anterior inter somatic bridges and bilateral arthritis of knees without articular chondrocalcinosis. The diagnosis of ochronosis have been suspected and confirmed by the blackness of urine and the dosage of alkaptonuria. The patient has been treated symptomatiquely. Familial investigation have revealed that his daughter suffered from the same disease with the notion of blackness of urine. She is 12 year old and she's asymptomatic on the osteoarticular level. CONCLUSION: Alkaptonuria causes a degenerative arthropaty which can endanger functional prognosis. Early diagnosis and scanning of this innate error of metabolism by genetic study play a fundamental interest, especially for molecular and genetic advisement.
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Alcaptonuria/diagnóstico , Alcaptonuria/genética , Calcinosis/diagnóstico por imagen , Niño , Consanguinidad , Femenino , Humanos , Vértebras Lumbares/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Ocronosis/diagnóstico , Ocronosis/genética , RadiografíaRESUMEN
The aim of this study is to determine the safety of commonly prescribed antirheumatic drugs at childbearing age, in pregnancy and lactation, through systematic literature review. Patients who take cytotoxic drugs should be informed of the risks of impared fertility. During pregnancy, non steroidal anti-inflammatory drugs (NSAIDs) can be safely administered until gestational week 32. Acetaminophen and low to moderate doses of corticosteroids are safe. Among, the disease-modifying agents, antimalarial agents, sulfasalazine, azathioprine and ciclosporin are compatible with pregnancy, and can be administered until birth. Paracetamol, prednison, antimalarial agents, sulfasalazine and most NSAIDs can safely be used by lactating mothers. To ensure a favourable outcome for both the mother and the child, the pregnancy should be planned, started during a period of disease stability, monitored closely and treated as needed.
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Antiinflamatorios no Esteroideos/efectos adversos , Antirreumáticos/efectos adversos , Enfermedades Reumáticas/tratamiento farmacológico , Animales , Antiinflamatorios no Esteroideos/administración & dosificación , Antirreumáticos/administración & dosificación , Femenino , Fertilidad/efectos de los fármacos , Glucocorticoides/administración & dosificación , Glucocorticoides/efectos adversos , Humanos , Lactancia , Embarazo , Complicaciones del Embarazo/tratamiento farmacológico , Enfermedades Reumáticas/complicacionesRESUMEN
BACKGROUND: Adult-onset Still's disease (ASD) is an uncommon clinical entity. It is a diagnosis of exclusion, characterized by a clinical triad of intermittent fever spikes, evanescent rash, and either arthralgia or arthritis. Destructive arthritis more commonly affects the hips, wrists, tarsal joints and cervical spine. AIM: To report an unusual case of ASD with severe distal interphalangeal destructive arthritis and finger skin vesiculopustules. OBSERVATION: A 19 years old girl was followed for 2 year-history of ASD with polycyclic articular involvement. She noted, since 2 months, rapid appearance of painful tumefaction in the distal interphalangeal joints (DIP) with maculopustular eruption distributed exclusively on the hands, in front, only of DIP and few proximal interphalangeal joints (PIP). Further more, she complained of polyarticular active disease. Hands and wrists X-ray showed narrowed distal-interphalangeal joint space of only DIP joints. RMN imaging revealed in addition carpal, metacarpal and PIP articular inflammatory damage. The infectious investigation remained negative. A surgical skin and DIP biopsy specimens showed disseminated micro-abscesses with polynuclear leukocyte dermal infiltration. There was no signs of osteitis. Bacterial and fungal cultures from the pus failed to reveal any causative organisms. Skin lesions gradually disappeared in response to conventional ASD therapy after intensification. Hence, the diagnosis of distal destructive arthritis of ASD associated with atypical neutrophilic dermatosis (Sweet's syndrome) was made. CONCLUSION: ASD is rare, heterogeneous, with unpredictable evolution. The distal destructive arthritis represents a possible complication. The presence of pustules as atypical cutaneous features of Sweet's syndrome may be seen in severe forms of ASD and clinicians must be alert to the possibility of a misdiagnosis in these cases.
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Dermatosis de la Mano/etiología , Artropatías/etiología , Enfermedades Cutáneas Vesiculoampollosas/etiología , Enfermedad de Still del Adulto/diagnóstico , Adulto , Femenino , Humanos , Artropatías/diagnóstico por imagen , Radiografía , Adulto JovenRESUMEN
OBJECTIVES: To investigate the influence of pregnancy and postpartum on rheumatoid arthritis (RA) course and the impact of maternofetal HLA class II disparity. METHODS: In 13 women with RA, disease activity was assessed prospectively, before and every three months throughout pregnancy and after delivery until one year in postpartum. The HLA class II disparity was evaluated by typing HLA-DRB1, DQB1 and DQA1 alleles by the PCR-SSOP for 12 couples mothers and babies. Furthermore, for three women, RA disease activity during a previous pregnancy was evaluated retrospectively and HLA typing was performed for the three children. RESULTS: The mean age of patients was 30+/-5 years. All women had successful pregnancy. During pregnancy, a favourable RA outcome was noted in 62.5% of cases. Three patients were in remission after conception. Persistent disease activity was noted in 30% of cases. In postpartum, disease relapse occurred in 92% of cases at a mean delay of 80+/-63 days. Three women did not resume the initial modifying antirheumatic drugs (DMARDs) 12 months after delivery. For others, the mean delay was 6+/-3.5 months. There was no significant correlation between the clinicoradiological parameters and the RA outcome. We noted a tendency towards correlation between male newborns and an unfavourable RA outcome (p=0.059). A high degree of maternofetal disparity in HLA class II was seen in 73.5% of cases. We observed a more marked improvement in disease activity parameters in case of more than one disparity but without a significant statistical difference. CONCLUSION: A favourable RA outcome during pregnancy in about two-thirds of the cases and a frequent relapse after delivery were observed. RA activity improvement is more obvious at the end of pregnancy. A high degree of maternofetal HLA class II disparity seems to modulate RA disease activity.
Asunto(s)
Artritis Reumatoide/inmunología , Feto/inmunología , Antígenos de Histocompatibilidad Clase II/inmunología , Intercambio Materno-Fetal/inmunología , Complicaciones del Embarazo/inmunología , Adulto , Instituciones de Atención Ambulatoria , Artritis Reumatoide/genética , Artritis Reumatoide/fisiopatología , Femenino , Sangre Fetal/inmunología , Antígenos HLA-DQ/genética , Antígenos HLA-DQ/inmunología , Cadenas alfa de HLA-DQ , Cadenas beta de HLA-DQ , Antígenos HLA-DR/genética , Antígenos HLA-DR/inmunología , Cadenas HLA-DRB1 , Antígenos de Histocompatibilidad Clase II/genética , Prueba de Histocompatibilidad , Humanos , Recién Nacido , Masculino , Intercambio Materno-Fetal/genética , Embarazo , Complicaciones del Embarazo/genética , Resultado del Embarazo , Estudios Prospectivos , Trastornos Puerperales/genética , Trastornos Puerperales/inmunología , Recurrencia , Inducción de Remisión , Índice de Severidad de la EnfermedadRESUMEN
OBJECTIVE: Ankylosing spondylitis (AS) is the second most common chronic inflammatory joint disease after rheumatoid arthritis and causes substantial functional impairment, two features that generate a heavy socioeconomic burden. Here, our objective was to assess the socioeconomic impact of AS and to identify factors associated with higher costs. PATIENTS AND METHODS: We retrospectively reviewed the medical charts of 50 patients with AS seen at the Monastir Public Health Service Hospital over the 6-month period from March to September 2006. The following were evaluated: direct costs of medical care; indirect costs related to work incapacity; and impact on marital life, offspring, social activities, and activities of daily living. RESULTS: There were 42 men and eight women (male-to-female ratio, 5.25) with a mean age of 38.9+/-10.8 years (range, 19-60 years). The median mean direct cost of medical care for AS was 426.072 Tunisian Dinars (TND) (266.295 euro) per year, and the interquartile range (IQR) was 270.468 TND. Of the 34 patients who had paid employment, 12 (35%) were on sick leave. The mean indirect cost was 447.4+/-294.3 TND (279.625+/-183.937 euro) per patient per year. The median mean total cost was 873.472 TND (545,92 euro) per patient per year with an IQR of 292,324 TND. Factors associated with higher costs were the use of nonsteroidal anti-inflammatory drugs and higher values of the BASDAI and BASRI. Among married patients, 44.4% reported sexual problems, which correlated with the BASMI; and 37% reported a negative reaction on the part of the healthy spouse. Adverse effects on schooling and quality of life of the children were noted in 29.6% of cases. Among single patients, 30.4% felt their disease was responsible for their unmarried status. The disease adversely affected the ability to carry out many activities of daily living (grooming in 38% of cases, housework in 76%, shopping in 92%, sporting activities in 96%, socializing in 68%, and traveling in 80%). The patients usually reported receiving support from their family, which was physical in 74% of cases, financial in 52%, and psychological in 90%. CONCLUSION: Our data indicate that AS generates a major socioeconomic burden. Most of the factors associated with higher costs were related to greater disease activity. Therefore, early appropriate treatment is crucial. Despite the many socioeconomic problems generated by AS, the patients remained connected to their social network thanks to support from their family and friends.
Asunto(s)
Costo de Enfermedad , Gastos en Salud , Perfil de Impacto de Enfermedad , Espondilitis Anquilosante/economía , Actividades Cotidianas , Adulto , Antirreumáticos/economía , Antirreumáticos/uso terapéutico , Empleo , Femenino , Humanos , Masculino , Persona de Mediana Edad , Calidad de Vida , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Ausencia por Enfermedad/economía , Espondilitis Anquilosante/fisiopatología , Espondilitis Anquilosante/rehabilitación , Túnez , Evaluación de Capacidad de Trabajo , Adulto JovenRESUMEN
Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease, characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D(3) (calcitriol) levels. This syndrome involves rickets with bone deformities in childhood and osteomalacia, osteoporosis, articular and para-articular pain, and fatigue in adulthood. It is caused by mutations in a consensus sequence for proteolytic cleavage of the FGF23 protein. Normally, this protein actively regulates phosphate homeostasis. Here we report a Tunisian family in which one parent and three children show clinical and biological features of ADHR. Mutation analysis of the FGF23 gene finds a heterozygous substitution of the C at position 526 by a T (526 C --> T), leading to an amino acid replacement of the FGF23 protein (R176W) at position 176. This causative new mutation is located in the consensus sequence for the proteolytic cleavage domain. These results confirm the importance of this site in FGF23 function and its essential role in ADHR physiopathology.
Asunto(s)
Raquitismo Hipofosfatémico Familiar/genética , Factores de Crecimiento de Fibroblastos/genética , Mutación Missense , Consanguinidad , Análisis Mutacional de ADN , Raquitismo Hipofosfatémico Familiar/sangre , Familia , Factor-23 de Crecimiento de Fibroblastos , Factores de Crecimiento de Fibroblastos/química , Humanos , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Dominios y Motivos de Interacción de Proteínas , TúnezRESUMEN
The aim of this retrospective study is to assess the frequency of HLA-B27 and HLA-B51 in healthy subjects from the center of Tunisia and to investigate their usefulness in the diagnosis of ankylosing spondylitis (AS) and Behçet's disease (BD), respectively. Microlymphocytotoxicity test was used to perform serologic HLA typing in a group of 124 healthy volunteers and a group of 365 patients suffering from clinical manifestations of AS and/or BD. HLA-B27 was found in 3.2% of healthy subjects and in 42.9% of patients with AS (P < 0.00006). HLA-B51 is, however, found in 16.1% of healthy subjects and in 30.0% of patients with BD (P > 0.05). Unlike HLA-B51, which seems to be as frequent in Tunisian patients with BD as in healthy subjects, HLA-B27 is more frequent in patients with AS than in controls. This highlights the usefulness of HLA-B27, rather than that of HLA-B51, in the diagnosis of the respective diseases.
Asunto(s)
Síndrome de Behçet/diagnóstico , Antígenos HLA-B/inmunología , Antígeno HLA-B27/inmunología , Espondilitis Anquilosante/diagnóstico , Adulto , Síndrome de Behçet/inmunología , Pruebas Inmunológicas de Citotoxicidad/métodos , Citotoxicidad Inmunológica/inmunología , Femenino , Antígeno HLA-B51 , Humanos , Masculino , Persona de Mediana Edad , Espondilitis Anquilosante/inmunología , Túnez , Adulto JovenRESUMEN
BACKGROUND: Ultrasound is an emerging tool in the diagnosis of carpal tunnel syndrome (CTS). THE AIM of this study is to evaluate the diagnostic role of ultrasound n the CTS. METHODS: Twenty five patients with signs and positive electromyographic of CTS were evaluated with ultrasound. The cross-sectional areas and the flattening ratio of the median nerve as well as the retinaculum bulging were calculated. RESULTS: There were 24 females and 1 male with the mean age of 48 years. Bilateral involvement was noted in 18 cases which done 43 wrists. The mean cross-sectional areas of the median nerve in the carpal tunnel is 10.54 +/- 3.46 mm2 and it is over 9 mm2 in 93% of the cases. Mean flattening ratio in the carpal tunnel is 1.96 +/- 0.32. Palmer retinaculum bulging is 3.70 +/- 1.03. All theses parameters are over normally. The sensibility of ultrasound in CTS is 93%. CONCLUSION: Ultrasound measurement of median nerve more its morphologic data is highly predictive for diagnosis of CTS.