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1.  L'endocardite à Bartonella en Tunisie: particularités lésionnelles et évolutives 
L'endocardite à Bartonalla est une infection ubiquitaire, son diagnostic est difficile vu qu'il s'agit souvent d'endocardite à hémoculture négative. Le but de cette étude est d'analyser les particularités lésionnelles et évolutives de cette entité dans un pays du nord d'Afrique, la Tunisie et de démontrer la gravité de cette infection. Nous avons étudié rétrospectivement les dossiers médicaux de 20 patients atteints d'endocardite à Bartonella, confirmée selon les critères de Dukes modifiés. L’âge moyen de nos patients était 37 ans avec une prédominance masculine (SR=3). Tous nos malades avaient un niveau socio-économique bas. Le motif essentiel de consultation était la dyspnée, 6 patients étaient admis dans un tableau d'insuffisance cardiaque congestive. Une prédilection des lésions au niveau de la valve aortique a été notée (14 cas). Quatorze patients avaient des végétations endocarditiques avec une taille qui dépasse 10 mm chez 8 malades. La majorité des patients (18 patients) présentaient une régurgitation valvulaire massive en rapport principalement avec des mutilations importantes (6 cas de ruptures de cordages mitraux, 2 cas de déchirures des sigmoïdes aortiques, un cas de perforation valvulaire aortique, un cas de désinsertion de prothèse mitrale). Quinze malades (3/4) avaient nécessité une chirurgie à la phase active de la maladie, l'indication majeure était l'insuffisance cardiaque. Une complication neurologique était notée chez 2 malades et une complication rénale chez 3 malades. Treize patients étaient guéris, 5 malades étaient décédés et 2 malades opérés ont présenté une réinfection à staphylococcus aureus et à candida albicans en postopératoire. L'endocardite à Bartonella est une infection grave. Cette Bactérie possède un potentiel destructif important. Le recours à la chirurgie est quasi constant. La morbi-mortalité est élevée. La recherche de cette bactérie devrait être alors systématique chez nos malades suspects d'endocardite d'autant plus que la bartonellose est endémique sur nos terres.
doi:10.11604/pamj.2013.16.24.1262
PMCID: PMC3932128  PMID: 24570785
Bartonella; endocardite; chirurgie; mortalité; Bartonella; endocarditis; surgery; mortality
2.  Correction: Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans 
PLoS Genetics  2013;9(6):10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe.
doi:10.1371/annotation/df5af830-8e1d-495a-a206-f881ed85e7fe
PMCID: PMC3758471
3.  Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans 
PLoS Genetics  2013;9(6):e1003536.
Autosomal recessive congenital ichthyosis (ARCI) is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3) and abolishes a sequence for a long non-coding RNA (FLJ42289). Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3) and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.
Author Summary
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of human keratinization disorders mainly characterized by generalized abnormal scaling of the skin. To date, positional cloning and homozygosity mapping of families with ARCI have identified disease-associated mutations in seven genes: ABCA12, ALOX12B, ALOXE3, CYP4F22, ICHTHYIN, PNPLA1, and TGM1. The reported molecular mechanisms underlying disease development are related to defects in epidermal lipid pathways that interfere with terminal keratinocyte differentiation and skin barrier function. In this study we used genome-wide SNP mapping, which identified homozygous mutations in the CERS3 (ceramide synthase 3) gene that cause a new type of ARCI. Functional analysis of a skin sample and in vitro differentiated keratinocytes from one patient demonstrated that mutated CERS3 impairs the synthesis of ceramides with very long-chain acyl moieties. The defect in sphingolipid metabolism disturbs the epidermal lipid profile, which leads to an abnormal terminal differentiation process. In summary, mutations in CERS3 are causative for ARCI and illustrate the important role of ceramide synthesis in human skin physiology.
doi:10.1371/journal.pgen.1003536
PMCID: PMC3675029  PMID: 23754960
4.  Midventricular Obstructive Hypertrophic Cardiomyopathy during Pregnancy Complicated by Pulmonary Embolism: A Case Report 
Case Reports in Medicine  2012;2012:165918.
Hypertrophic cardiomyopathy (HCM) with midventricular obstruction (MVO) is a rare condition occurring in 1% of HCM patients. It is characterized by asymmetric left ventricular hypertrophy with MVO and elevated intraventricular pressure gradients. Pulmonary embolism has been associated with mid-ventricular obstructive HCM. Briefly, this case presents an unusual clinical scenario where a young pregnant woman suffering from hypertrophic obstructive cardiomyopathy presents with dyspnea hemodynamic compromise related to pulmonary embolism illustrating hemodynamic challenges created by pregnancy and surgery. We concluded that simple measures such as communication between the cardiology and obstetric teams, understanding of the hemodynamic changes, anesthetic planning, and monitoring were paramount for the success in our patient.
doi:10.1155/2012/165918
PMCID: PMC3457681  PMID: 23024656
5.  Maladie de Takayasu et polyarthrite rhumatoïde: une association rare - à propos d'une observation 
L'artérite de Takayasu ou maladie de Takayasu (MT) et la polyarthrite rhumatoïde (PR) et sont deux maladies inflammatoires chroniques et leur association a été rapportée dans la littérature à travers quelques observations de cas sporadiques. Nous rapportons une nouvelle observation d'une telle association. Une patiente âgée de 44 ans, diagnostiquée avec une polyarthrite rhumatoïde à facteur rhumatoïde positif, qui a développé des céphalées avec des vertiges de caractère permanent. L'examen révélait un pouls radial et huméral abolis à droite, un souffle carotidien bilatéral et une tension artérielle imprenable à droite. L'artériographie a confirmé la présence d'une atteinte de l'arc aortique type MT. Le diagnostic d'une maladie de Takayasu associée à une polyarthrite rhumatoïde était retenu. La patiente était traitée par une corticothérapie (prednisone à la dose de 0,5 mg/kg par jour) et un traitement de fond par Méthotrexate avec une bonne réponse initiale. A travers notre observation et une revue de la littérature, les caractéristiques épidémiologiques, étiopathogéniques, cliniques, thérapeutiques et évolutives de cette association seront discutées.
PMCID: PMC3428181  PMID: 22937201
Maladie de Takayasu; polyarthrite rhumatoïde; aortite; risque cardiovasculaire
6.  A Neovascularized Left Atrial Mass 
Case Reports in Medicine  2012;2012:518539.
Background. The discovery of a large left atrial mass through echocardiography obliges the clinician to perform a differential diagnosis to distinguish tumor from thrombus. The neovascularization of the mass could be helpful to predict the type of the malformation and whether it is in favour of a vacular tumour rather than a thrombus . Observation. A 43-years-old man who had no cardiac antecedent reported that he have had dyspnea and palpitation since 10 months. The cardiac auscultation, revealed an irregular rhythm with diastolic murmur at the apex. The electrocardiogram showed an atrial fibrillation. The transthoracic echocardiography revealed a severe mitral stenosis with a huge left atrial mass, confirmed through transesophageal echocardiography. After 4 weeks of an efficient anticoagulant treatment, the mass was still persistent in the echocardiography. So we decided to resect the mass and to achieve a mitral valve replacement. The preoperative coronarography showed neovascularization among the mass and fistula from the circumflex artery. Considering the characteristic of the mass (neovascularization and resistance to anticoagulant), we strongly suspected a vascular tumor especially myxoma, but the histological exam revealed an organized thrombus. Conclusion. Coronary neovascularization is a specific sign for left atrial thrombus in mitral stenosis, but surgery is the best way to confirm diagnosis.
doi:10.1155/2012/518539
PMCID: PMC3337590  PMID: 22570661
7.  Post-traumatic pulmonary embolism in the intensive care unit 
Annals of Thoracic Medicine  2011;6(4):199-206.
OBJECTIVE:
To determine the predictive factors, clinical manifestations, and the outcome of patients with post-traumatic pulmonary embolism (PE) admitted in the intensive care unit (ICU).
METHODS:
During a four-year prospective study, a medical committee of six ICU physicians prospectively examined all available data for each trauma patient in order to classify patients according to the level of clinical suspicion of pulmonary thromboembolism. During the study period, all trauma patients admitted to our ICU were classified into two groups. The first group included all patients with confirmed PE; the second group included patients without clinical manifestations 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 its branches.
RESULTS:
During the study period, 1067 trauma patients were admitted in our ICU. The diagnosis of PE was confirmed in 34 patients (3.2%). The mean delay of development of PE was 11.3 ± 9.3 days. Eight patients (24%) developed this complication within five days of ICU admission. On the day of PE diagnosis, the clinical examination showed that 13 patients (38.2%) were hypotensive, 23 (67.7%) had systemic inflammatory response syndrome (SIRS), three (8.8%) had clinical manifestations of deep venous thrombosis (DVT), and 32 (94%) had respiratory distress requiring mechanical ventilation. In our study, intravenous unfractionated heparin was used in 32 cases (94%) and low molecular weight heparin was used in two cases (4%). The mean ICU stay was 31.6 ± 35.7 days and the mean hospital stay was 32.7 ± 35.3 days. The mortality rate in the ICU was 38.2% and the in-hospital mortality rate was 41%. The multivariate analysis showed that factors associated with poor prognosis in the ICU were the presence of circulatory failure (Shock) (Odds ratio (OR) = 9.96) and thrombocytopenia (OR = 32.5).Moreover, comparison between patients with and without PE showed that the predictive factors of PE were: Age > 40 years, a SAPS II score > 25, hypoxemia with PaO2/FiO2 < 200 mmHg, the presence of spine fracture, and the presence of meningeal hemorrhage.
CONCLUSION:
Despite the high frequency of DVT in post-traumatic critically ill patients, symptomatic PE remains, although not frequently observed, because systematic screening is not performed. Factors associated with poor prognosis in the ICU are the presence of circulatory failure (shock) and thrombocytopenia. Predictive factors of PE are: Age > 40 years, a SAPS II score > 25, hypoxemia with PaO2/FiO2 < 200, the presence of a spine fracture, and the presence of meningeal hemorrhage. Prevention is highly warranted.
doi:10.4103/1817-1737.84773
PMCID: PMC3183636  PMID: 21977064
Anticoagulation; ICU; predictive factors; pulmonary embolism; trauma patients
8.  Cardiac tamponade and paroxysmal third-degree atrioventricular block revealing a primary cardiac non-Hodgkin large B-cell lymphoma of the right ventricle: a case report 
Introduction
Primary cardiac lymphoma is rare.
Case Presentation
We report the case of a 64-year-old non-immunodeficient Caucasian man, with cardiac tamponade and paroxysmal third-degree atrioventricular block. Echocardiography revealed the presence of a large pericardial effusion with signs of tamponade and a right ventricular mass was suspected. Scanner investigations clarified the sites, extension and anatomic details of myocardial and pericardial infiltration. Surgical resection was performed due to the rapid impairment of his cardiac function. Analysis of the pericardial fluid and histology confirmed the diagnosis of non-Hodgkin large B-cell lymphoma. He was treated with chemotherapy.
Conclusion
The prognosis remains poor for this type of tumor due to delays in diagnosis and the importance of the site of disease.
doi:10.1186/1752-1947-5-433
PMCID: PMC3180417  PMID: 21892927
9.  Angioplastie coronaire percutanée chez la femme: particularités cliniques, procédurales et pronostiques 
AbstractX Les résultats de l′angioplastie transluminale (ATL) des coronaires chez la femme ont été pendant de nombreuses années controversés et longtemps considérés comme moins favorable que chez l′homme. Le but de notre travail était d’évaluer les caractéristiques de l'angioplastie coronaire chez la femme, ainsi que les résultats immédiats et à moyen terme et de les comparer à ceux chez l'homme.
Nous avons comparé 200 patients dont 100 femmes, ayant bénéficié d'une angioplastie coronaire, colligés au service de cardiologie de l'hôpital Hédi Chaker de Sfax entre 2002 et 2007.
Les femmes étaient significativement plus âgées que les hommes. La comparaison de la fréquence des facteurs de risque d'athérosclérose chez les deux sexes, a permis de noter une co-morbidité franchement plus importante chez la femme, avec une différence statiquement significative. L'ATL a été plus motivée chez la femme devant un angor stable sévère (p<0,05) et un SCA ST- (p=NS). Les femmes avaient plus d'atteinte polytronculaire (p<0,05), d'atteintes des segments moyens et distaux (p<0,05) et plus des lésions serrées (p=NS), longues et calcifiées (p<0,05). 259 stents ont été déployés, un stenting direct était plus fréquent dans la population féminine (p<0,05). Le diamètre des artères féminines, assimilé à celui du stent et/ou ballon utilisé, a été significativement moins important que celui des hommes. La longueur des stents et/ou ballon utilisés, ainsi que les pressions de larguage des stents ont été plus importantes chez la population féminine (p<0,05). Le succès angiographique global a été obtenu chez 94% de la population générale, sans différence significative entre les deux sexes. Les évènements cardiaques majeurs (MACE) hospitaliers ont été plus fréquents chez la femme (p=0,05). Après un suivi moyen de 31 mois, le taux de MACE global a été significativement plus important chez la femme (39% vs. 28%, p<0,05), portant surtout sur la mortalité globale (13% vs. 3%, p<0,05). Le taux de resténose a été comparable chez les deux sexes.
L'angioplastie coronaire constitue actuellement un moyen thérapeutique efficace et sur chez la femme, au prix de complications plus fréquentes.
PMCID: PMC3215566  PMID: 22145070
Angioplastie coronaire percutanée; syndrome coronarien aigu; sexes; mortalité; Tunisie
10.  Acute myocardial infarction in young adults with Antiphospholipid syndrome: report of two cases and literature review 
Abstract Acute myocardial infarction (AMI) is rarely associated with antiphospholipid syndrome. The treatment of these patients is a clinical challenge. We report the observations of 2 young adults (1 woman and 1 man), admitted in our acute care unit for acute myocardial infarction (AMI). A coagulopathy work-up concludes the existence of antiphospholipid syndrome (APS) in the 2 cases. APS syndrome was considered primary in 2 cases. All patients presented an intense inflammatory syndrome (high level of CRP). Anticardiolipine was present in the 2 cases. However, anti B2 glycoprotein I antibodies were detected in only one case. Emergency percutaneous transluminal coronary angioplasty (PTCA) with direct stenting had been performed successfully only in the first case, and the follow-up was uncomplicated. Thereafter, long-term oral anticoagulant appeared to be effective. The last patient was admitted because of peripheral acute ischemia of legs. Standard electrocardiogram showed signs of previous silent anteroseptal wall myocardial infarction confirmed by echocardiography. The latter revealed an apical thrombus and a very low left ventricular ejection fraction. Amputation of the right leg was necessary because of consultation occurred too late. However, he died four weeks later. Primary antiphospholipid syndrome should be considered as a cause of acute myocardial infarction in young adults, and PTCA with anticoagulant treatment is effective for initial treatment of this complication.
PMCID: PMC3201580  PMID: 22121422
Antiphospholipid syndrome; acute myocardial infarction; coronarography
11.  Pulmonary embolism in intensive care unit: Predictive factors, clinical manifestations and outcome 
Annals of Thoracic Medicine  2010;5(2):97-103.
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 PaO2/FiO2 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 PaO2/FiO2 < 300 and the absence of pharmacological prevention of venous thromboembolism.
doi:10.4103/1817-1737.62473
PMCID: PMC2883205  PMID: 20582175
ICU; predictive factors; prophylactic anticoagulation; pulmonary embolism

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