Relationship between paramacular thinning, cerebral vasculopathy, and hematological risk factors in sickle cell disease

PurposeTo identify risk factors for sickle cell maculopathy due to hematological parameters (especially anemia and hemolysis) or cerebral vasculopathy.MethodsThis retrospective study was conducted at a Referral Center. The follow-up included optical coherent tomography/optical coherent tomography angiography, neuro-radiological imaging, and a hematological assessment (hemoglobin, hemoglobin S level, reticulocytes, mean corpuscular volume, bilirubin, and lactate dehydrogenase).ResultsHundred and thirty-two sickle cell patients were included. Maculopathy was observed in 127 eyes of SS patients and 10 eyes of SC patients (p < 0.001), unrelated to peripheral retinopathy. Cerebral vasculopathy was more frequent in SS patients (p < 0.001) and was also associated with the presence of maculopathy (p = 0.049), and it was related to peripheral retinopathy (p < 0.001). All biological parameters significantly differed according to the genotype (p < 0.001) but not according to the presence of cerebral vasculopathy or maculopathy. In the multivariate analysis, reticulocytes and bilirubin were associated with the presence of cerebral vasculopathy and maculopathy.ConclusionThe data obtained were consistent with the role of anemia or hemolysis markers in cerebral vasculopathy and macular involvement. As a trend of hemolysis appears to be a risk factor for these complications, this validates the use of preventive plasmapheresis in these patients

An autosomal dominant major gene confers predisposition to pulmonary tuberculosis in adults

The molecular basis of genetic predisposition to pulmonary tuberculosis in adults remains largely elusive. Few candidate genes have consistently been implicated in tuberculosis susceptibility, and no conclusive linkage was found in two previous genome-wide screens. We report here a genome-wide linkage study in a total sample of 96 Moroccan multiplex families, including 227 siblings with microbiologically and radiologically proven pulmonary tuberculosis. A genome-wide scan conducted in half the sample (48 families) identified five regions providing suggestive evidence (logarithm of the odds [LOD] score >1.17; P < 0.01) for linkage. These regions were then fine-mapped in the total sample of 96 families. A single region of chromosome 8q12-q13 was significantly linked to tuberculosis (LOD score = 3.49; P = 3 × 10−5), indicating the presence of a major tuberculosis susceptibility gene. Linkage was stronger (LOD score = 3.94; P = 10−5) in the subsample of 39 families in which one parent was also affected by tuberculosis, whereas it was much lower (LOD score = 0.79) in the 57 remaining families without affected parents, supporting a dominant mode of inheritance of the major susceptibility locus. These results provide direct molecular evidence that human pulmonary tuberculosis has a strong genetic basis, and indicate that the genetic component involves at least one major locus with a dominant susceptibility allele

Evaluating the Impact of Computerized Provider Order Entry on Medical Students Training at Bedside: A Randomized Controlled Trial

Objective: To evaluate the impact of computerized provider order entry (CPOE) at the bedside on medical students training. Materials and Methods We conducted a randomized cross-controlled educational trial on medical students during two clerkship rotations in three departments, assessing the impact of the use of CPOE on their ability to place adequate monitoring and therapeutic orders using a written test before and after each rotation. Students’ satisfaction with their practice and the order placement system was surveyed. A multivariate mixed model was used to take individual students and chief resident (CR) effects into account. Factorial analysis was applied on the satisfaction questionnaire to identify dimensions, and scores were compared on these dimensions. Results: Thirty-six students show no better progress (beginning and final test means = 69.87 and 80.98 points out of 176 for the control group, 64.60 and 78.11 for the CPOE group, p = 0.556) during their rotation in either group, even after adjusting for each student and CR, but show a better satisfaction with patient care and greater involvement in the medical team in the CPOE group (p = 0.035*). Both groups have a favorable opinion regarding CPOE as an educational tool, especially because of the order reviewing by the supervisor. Conclusion: This is the first randomized controlled trial assessing the performance of CPOE in both the progress in prescriptions ability and satisfaction of the students. The absence of effect on the medical skills must be weighted by the small time scale and low sample size. However, students are more satisfied when using CPOE rather than usual training

Subclinical Cardiac Dysfunction Is Associated With Extracardiac Organ Damages

Background: Several studies conducted in America or Europe have described major cardiac remodeling and diastolic dysfunction in patients with sickle cell disease (SCD). We aimed at assessing cardiac involvement in SCD in sub-Saharan Africa where SCD is the most prevalent.Methods: In Cameroon, Mali and Senegal, SCD patients and healthy controls of the CADRE study underwent transthoracic echocardiography if aged ≥10 years. The comparison of clinical and echocardiographic features between patients and controls, and the associations between echocardiographic features and the vascular complications of SCD were assessed.Results: 612 SCD patients (483 SS or Sβ0, 99 SC, and 19 Sβ+) and 149 controls were included. The prevalence of dyspnea and congestive heart failure was low and did not differ significantly between patients and controls. While left ventricular ejection fraction did not differ between controls and patients, left and right cardiac chambers were homogeneously more dilated and hypertrophic in patients compared to controls and systemic vascular resistances were lower (p &lt; 0.001 for all comparisons). Three hundred and forty nine SCD patients had extra-cardiac organ damages (stroke, leg ulcer, priapism, microalbuminuria or osteonecrosis). Increased left ventricular mass index, cardiac dilatation, cardiac output, and decreased systemic vascular resistances were associated with a history of at least one SCD-related organ damage after adjustment for confounders.Conclusions: Cardiac dilatation, cardiac output, left ventricular hypertrophy, and systemic vascular resistance are associated with extracardiac SCD complications in patients from sub-Saharan Africa despite a low prevalence of clinical heart failure. The prognostic value of cardiac subclinical involvement in SCD patients deserves further studies

Evaluation épidémiologique de la vasculopathie du syndrome drépanocytaire majeur en Afrique subsaharienne

Contexte : La drépanocytose est une maladie génétique qui touche 25 à 30 millions d individus dans le monde, dont la moitié en Afrique subsaharienne. Les complications chroniques qui grèvent la mortalité des patients à l âge adulte sont le résultat de micro-occlusions capillaires itératives et d une vasculopathie secondaire à une dysfonction endothéliale. Méthodes : Dans cette étude épidémiologique prospective, nous avons évalué 2090 patients drépanocytaires et 480 témoins âgés de 4 à 60 ans dans 4 pays d Afrique subsaharienne (Sénégal, Mali, Cameroun, Côte d ivoire). La vasculopathie a été étudiée par le biais de l analyse de l onde de pouls et la microalbuminurie. L atteinte cardiaque a été évaluée par une échographie cardiaque pour une partie de la cohorte. Résultats : Il est retrouvé chez les patients drépanocytaires une diminution de la vitesse de l onde de pouls dans toutes les classes d âges ainsi qu une diminution de la pression artérielle centrale en comparaison aux témoins. Le taux de microalbuminurie significative est supérieure dans la population drépanocytaire par rapport à la population témoin. Conclusion : Les patients drépanocytaires d Afrique subsahatienne présentent une vasculopathie ainsi qu une glomérulopathie. Un suivi de la cohorte et des études fondamentales sont nécessaires pour mieux comprendre le rôle de cette vasculopathie dans la survenue des complications de la drépanocytose.LILLE2-BU Santé-Recherche (593502101) / SudocSudocFranceF

Prise en charge d'une découverte d'une gammapathie monoclonale en ville par le médecin généraliste

PARIS6-Bibl. St Antoine CHU (751122104) / SudocSudocFranceF

Lespatients,l'urgence et leur médecin traitant

PARIS6-Bibl. St Antoine CHU (751122104) / SudocSudocFranceF

Thromboses artérielles et veineuses chez les patients infectés par le VIH débutant un traitement par inhibiteur de la protéase (cohorte APROCO ANRS EP11)

PARIS6-Bibl.Pitié-Salpêtrie (751132101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Recherche de facteurs génétiques influençant deux phénotypes liés à la lèpre : la réaction granulomateuse de Mitsuda et les réactions de réversion

LE KREMLIN-B.- PARIS 11-BU Méd (940432101) / SudocSudocFranceF

prise en charge des patients drépanocytaires par les médecins généralistes en Seine Saint Denis

PARIS6-Bibl. St Antoine CHU (751122104) / SudocSudocFranceF