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1.
J Trauma ; 71(4): 838-46, 2011 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-21460740

RESUMEN

BACKGROUND: Diffuse axonal injury (DAI) is usually associated to severe trauma. Recent imaging advances made its diagnosis easier. Its prognosis impact is not yet well established. The aim of this article is to describe the epidemiologic, clinical, and radiologic features of posttraumatic DAI and to study its prognosis impact on mortality and outcome according to Glasgow Outcome Scale. METHODS: This is a retrospective study over a 4-year period (2004-2007) of 124 patients admitted for head trauma. Demographic, clinical, biological, and radiologic findings were recorded at admission and during intensive care unit stay. RESULTS: Mean age (±standard deviation) was 28 years±15.8 years. Cranial computed tomography scan was sufficient enough to diagnose DAI in 31 patients. Magnetic resonance imaging was performed in 105 patients with a delay of 7.7 days±8.6 days. Most patients were classified as stage II (49.5%) or stage III (44.8%) according to Gentry's classification. In a multivariate analysis, factors associated with higher mortality were dysautonomia (p=0.018; odds ratio [OR]=4.17), hyperglycemia≥8 mmol/L (p=0.001; OR=3.84) on intensive care unit admission, and subdural hematoma (p=0.031; OR=3.99), whereas factors associated to poor outcome according to Glasgow Outcome Scale score were Glasgow Coma Scale score<8 (p=0.032, OR=3.55), secondary systemic injuries score≥3 (p=0.034, OR=2.83), hyperglycemia≥8 mmol/L (p=0.002, OR=5.55), and DAI count≥6 (p=0.035, OR=3.33). In patients with pure DAI, the absence of consciousness recovery was the unique independent factor of mortality (p<0.001, OR=116.4), whereas only transfusion need was an independent factor of poor outcome (p=0.017, OR=4.44). CONCLUSION: Dysautonomia, hyperglycemia, and subdural hematoma are the main factors associated to higher mortality when DAIs are diagnosed, whereas a DAI count≥6 is associated to poor outcome. Magnetic resonance imaging classification did not have a prognosis value even in patients with pure DAI.


Asunto(s)
Traumatismos Craneocerebrales/epidemiología , Lesión Axonal Difusa/epidemiología , Adolescente , Adulto , Anciano , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Niño , Preescolar , Traumatismos Craneocerebrales/diagnóstico , Lesión Axonal Difusa/diagnóstico , Lesión Axonal Difusa/diagnóstico por imagen , Lesión Axonal Difusa/patología , Femenino , Escala de Coma de Glasgow , Hematoma Subdural/epidemiología , Humanos , Hiperglucemia/epidemiología , Lactante , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Análisis Multivariante , Disautonomías Primarias/epidemiología , Pronóstico , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto Joven
4.
Arch Med Res ; 42(5): 398-404, 2011 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-21854817

RESUMEN

BACKGROUND AND AIMS: In this study we investigated the carotid intima-media thickness (cIMT) in Tunisian patients with Behçet's disease (BD), and we evaluated the relationship between traditional and nontraditional cardiovascular risk factors, disease manifestations, disease severity, use of immunosuppressive agents and cIMT in patients with BD. METHODS: Fifty patients with BD were individually matched to 50 control subjects on the basis of age, gender and traditional cardiovascular risk factors. Subjects with diabetes mellitus, evidence of myocardial infarction or cerebrovascular disease were excluded from the study. Patients with arterial involvement were also excluded. We measured serum high-sensitivity C-reactive protein (hsCRP), fibrinogen, creatinine levels and lipid profile. We also measured serum vitamin B12, folate, total plasma homocysteine levels, and HOMA-IR values. We used B-mode ultrasonography to assess the cIMT. RESULTS: cIMT in the BD group was significantly higher than in the control group (0.658 ± 0.112 mm vs. 0.581 ± 0.087 mm, respectively, p <10(-3)). The frequency of plaques in the carotid arteries was similar between study groups. In univariate analyses, the cIMT of BD patients was correlated with age (r = 0.510, p <10(-3)), male gender (p = 0.032), and creatinine clearance (r = -0.421, p = 0.003). It was inversely correlated with HOMA-IR values and serum vitamin B12 level. cIMT values were independent of disease manifestations, disease duration, or corticoid therapy. In the multivariate analysis, only male gender and creatinine clearance remained significantly associated with cIMT. CONCLUSIONS: Our data indicate morphologic evidence of subclinical atherosclerosis in patients with BD. Increased arterial wall thickness was not associated with the disease duration, clinical manifestations and immunosuppressive therapy.


Asunto(s)
Síndrome de Behçet/patología , Arterias Carótidas/patología , Túnica Íntima/patología , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Adulto Joven
5.
Eur J Med Genet ; 54(5): e484-8, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21700001

RESUMEN

Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects. BOR includes additional kidney malformations. BO/BOR syndromes are genetically heterogeneous and caused by mutations in EYA1 and SIX1 genes. Mutation in SIX1 is responsible also for DFNA23, a locus for non-syndromic HI. Strikingly, the severity of the phenotype did not seem to correlate with the type of SIX1 mutation. Herein, we identified a novel mutation in SIX1 (p.E125K) in a Tunisian family with variable HI and preauricular pits. This mutation is located at the same position as the mutation identified in the Catwhesel (Cwe) mouse. No renal and branchial defects were observed in our family nor in Cwe/+ mice. A homology model revealed that the replacement of the Glutamate by a Lysine alters the electrostatic potential surface propriety which may affect the DNA-binding activity.


Asunto(s)
Oído/anomalías , Pérdida Auditiva/genética , Proteínas de Homeodominio/genética , Mutación/genética , Adulto , Secuencia de Aminoácidos , Secuencia de Bases , Síndrome Branquio Oto Renal/genética , Secuencia Conservada , Femenino , Humanos , Riñón/anomalías , Masculino , Repeticiones de Microsatélite/genética , Modelos Moleculares , Datos de Secuencia Molecular , Linaje , Fenotipo , Conformación Proteica , Alineación de Secuencia
6.
Ann Thorac Med ; 5(2): 97-103, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-20582175

RESUMEN

OBJECTIVE: To determine predictive factors, clinical and demographics characteristics of patients with pulmonary embolism (PE) in ICU, and to identify factors associated with poor outcome in the hospital and in the ICU. METHODS: During a four-year prospective study, a medical committee of six ICU physicians prospectively examined all available data for each patient in order to classify patients according to the level of clinical suspicion of pulmonary thromboembolism. During the study periods, all patients admitted to our ICU were classified into four groups. The first group includes all patients with confirmed PE; the second group includes some patients without clinical manifestations of PE; the third group includes patients with suspected and not confirmed PE and the fourth group includes all patients with only deep vein thromboses (DVTs) without suspicion of PE. The diagnosis of PE was confirmed either by a high-probability ventilation/perfusion (V/Q) scan or by a spiral computed tomography (CT) scan showing one or more filling defects in the pulmonary artery or in its branches. The diagnosis was also confirmed by echocardiography when a thrombus in the pulmonary artery was observed. RESULTS: During the study periods, 4408 patients were admitted in our ICU. The diagnosis of PE was confirmed in 87 patients (1.9%). The mean delay of development of PE was 7.8 +/- 9.5 days. On the day of PE diagnosis, clinical examination showed that 50 patients (57.5%) were hypotensive, 63 (72.4%) have SIRS, 15 (17.2%) have clinical manifestations of DVT and 71 (81.6%) have respiratory distress requiring mechanical ventilation. In our study, intravenous unfractionated heparin was used in 81 cases (93.1%) and low molecular weight heparins were used in 4 cases (4.6%). The mean ICU stay was 20.2 +/- 25.3 days and the mean hospital stay was 25.5 +/- 25 days. The mortality rate in ICU was 47.1% and the in-hospital mortality rate was 52.9%. Multivariate analysis showed that factors associated with a poor prognosis in ICU are the use of norepinephrine and epinephrine. Furthermore, factors associated with in-hospital poor outcome in multivariate analysis were a number of organ failure associated with PE >/= 3. MOREOVER, COMPARISON BETWEEN PATIENTS WITH AND WITHOUT PE SHOWED THAT PREDICTIVE FACTORS OF PE ARE: acute medical illness, the presence of meningeal hemorrhage, the presence of spine fracture, hypoxemia with PaO(2)/FiO(2) ratio <300 and the absence of pharmacological prevention of venous thromboembolism. CONCLUSION: Despite the high frequency of DVT in critically ill patients, symptomatic PE remains not frequently observed, because systematic screening is not performed. Pulmonary embolism is associated with a high ICU and in-hospital mortality rate. Predictive factors of PE are acute medical illness, the presence of meningeal hemorrhage, the presence of spine fracture, hypoxemia with PaO(2)/FiO(2) < 300 and the absence of pharmacological prevention of venous thromboembolism.

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