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Using the culturomics method, two strains were isolated, identified, and characterised following the taxonogenomics concept. Bacillus marasmi sp. nov. strain Marseille-P3556 (= CSURP3556) is isolated from a 13-month-old girl living in Niger. The phylogenetic tree, phenotypic criteria, and genomic analysis described here clearly show that this bacterium is different from previously known bacterial species withstanding in nomenclature and new members of Bacillus genus.

INTRODUCTION : Le liposarcome est une tumeur mésenchymateuse primitive rare, développée aux dépends des tissus adipeux. Il est constitué de quatre sous-types histologiques notamment les sous- types bien différenciés, myxoïde, pléomorphe et dédifférencié. La localisation préférentielle est la cuisse. Nous rapportons une observation d’un liposarcome myxoïde à cellule ronde à localisation fessière. OBSERVATION : Un homme âgé de 56 ans, vendeur de légumes, originaire de la Guinée Conakry, présentait depuis deux ans une tumeur de la fesse droite. L’examen retrouvait une tumeur inflammatoire, ulcérée du quadrant supéro-externe de la fesse droite bien limitée, à fond purulent jaunâtre avec quelques plages de nécrose, mesurant environ huit cm. Des adénopathies inguinales bilatérales étaient retrouvées. Les hypothèses diagnostiques étaient les suivantes : carcinome épidermoïde, lymphome cutané, métastases cutanées. L’examen anatomopathologique mettait en évidence une prolifération tumorale maligne occupant toute la hauteur du derme et faite de lipoblastes, de flasques mucineux bleuâtres disposées en vastes zones et des plages d’adipocytes très pléomorphes avec des noyaux irréguliers à disposition interstitielle diffuse. Le diagnostic de liposarcome myxoïde à cellules rondes avait été retenu. La tomodensitométrie thoraco-abdomino-pelvienne, réalisée dans le cadre du bilan l’extension, avais mis en évidence un aspect compatible avec des localisations néoplasiques secondaires pleuropulmonaires, hépatiques, cutanées et ganglionnaires. L’extension ganglionnaire concernaient les aires inguinales et iliaques internes et externes bilatérales avec des adénopathies de tailles variables dont la cible inguinale droite mesure 96x94 mm. Ces adénopathies étaient compressives compliquées d’une urétro-hydronéphrose de stade II à droite et d’une thrombose veineuse cave partielle. Le patient a été traité par chimiothérapie (adriamycine – carboplatine). L’évolution était rapidement fatale au bout de quelques semaines après la première cure de chimiothérapie. Les liposarcomes sont des tumeurs malignes rares représentant moins de 1% des tumeurs malignes. Quatre sous-types histopathologiques sont identifiés par l’OMS. Notre observation est caractéristique par sa topographie et l’évolution rapidement fatale avec des métastases multiples. Le sous-type myxoïde est le plus fréquent représentant 25% des liposarcomes et 5% des sarcomes des tissus mous atteignant généralement les adultes jeunes avec un pic d’incidence entre 40 et 60 ans. CONCLUSION : Il faudrait évoquer un liposarcome devant toute tumeur des parties molles localisée à la région fessière. L’examen anatomopathologique est incontournable pour confirmer le diagnostic et préciser le sous-type histopathologique.

In this study, less contaminated and porous SiO

Neuro-Behçet (NB) African studies are mainly North African, but Sub-Saharan Africa is not to be outdone. Our aim was to describe diagnostic and therapeutic features of NB in a Senegalese series collected in Dakar. This was a descriptive and retrospective study conducted at the Neurology department of Fann Teaching Hospital in Dakar, Senegal. All patients who met the NB's diagnostic criteria were included. Sixteen patients were collected, 14 males and 2 females with an average age of 40 years [18-71]. The main neurological signs were motor deficit (13 cases), headache (10 cases), and language disorders (4 cases). Extra-neurological signs were dermatological (14 cases), ocular (2 cases), and articular (2 cases) with aseptic unilateral gonarthritis. Fever was present in 9 patients. Neurological involvement was mostly isolated parenchymal (8 cases) or mixed (6 cases). The main clinical forms of NB were rhombencephalitis (8 cases) and retrobulbar optic neuritis (4 cases). Seven patients had a cerebral angio-Behçet with cerebral venous thrombosis (3 cases), ischemic stroke (2 cases), and intracerebral hematoma (2 cases). Under prednisone (16 cases) and azathioprine (3 cases), the short-term clinical outcome was mostly favorable (14 cases) with a modified Rankin scale at 2. NB is an under-diagnosed adult male disease in Sub-Saharan Africa and further studies are needed.Les études africaines sur le neuro-Behçet (NB) sont majoritairement maghrébines, mais l'Afrique noire n'est pas en reste. L'objectif de l'étude était de décrire les particularités diagnostiques et thérapeutiques du NB dans une série sénégalaise colligée à Dakar. Il s'agit d'une étude rétrospective à visée descriptive menée à la clinique de neurologie du centre hospitalier universitaire de Fann de Dakar, au Sénégal. Tous les patients répondant aux critères diagnostiques de NB ont été inclus. Seize patients ont été colligés, 14 hommes et deux femmes avec un âge moyen de 40 ans [18–71]. Les principaux signes neurologiques étaient un déficit moteur (13 cas), des céphalées (10 cas) et un trouble du langage (4 cas). Les signes extraneurologiques étaient dermatologiques (14 cas), oculaires (2 cas) et articulaires (2 cas) à type de gonarthrite unilatérale aseptique. Une fièvre était présente chez neuf patients. L'atteinte neurologique était majoritairement parenchymateuse isolée (8 cas) ou mixte (6 cas). Les principales formes cliniques de NB étaient la rhombencéphalite (8 cas) et la névrite optique rétrobulbaire (4 cas). Sept patients avaient un angio-Behçet cérébral à type de thromboses veineuses cérébrales (3 cas), d'infarctus cérébraux (2 cas) et d'hématomes intracérébraux (2 cas). Sous prednisone (16 cas) et azathioprine (3 cas), l'évolution clinique à court terme était majoritairement favorable (14 cas) avec un score de Rankin modifié de 2 au moment de l'exeat. Le NB est une maladie de l'homme adulte sous-diagnostiquée en Afrique noire. Des études ultérieures multicentriques nationales et sous-régionales sont souhaitables.

The aim of this study was to use molecular methods to determine the profile of resistance to rifampicin (RMP or RIF) and isoniazid (INH) in mycobacteria from tuberculosis patients in Senegal. Sputum samples (48) received by the mycobacterial laboratory of the National Antituberculosis Program (NATP) in Senegal between 2012 and 2014 were studied. Most of these samples came from patients in treatment failure or relapse (58.33%). They were tested with the Xpert MTB/RIF or line-probe assays (LPAs) or both. 17 (35.41%) isolates resistant to INH, 16 (33.33%) resistant to RMP, and 16 that were multidrug-resistant (MDR) (33.33%) were identified. Two isolates (4.16%) were susceptible to INH, but resistant to RMP (INH-S/RIF-R). The molecular tests facilitated the rapid detection of MDR isolates. However, INH resistance should be assessed in all cases in which RIF resistance is detected, given the demonstrated existence of INH-S/RIF-R strains. Key words: Tuberculosis, Xpert MTB/RIF, line-probe assays (LPA), resistance, Senegal.

A stroke often has more effects than what can be observed physically, for example paralysis of a limb or problems with speech. The “invisible” effects often come to light later on. The damage to the brain can bring changes in the patients’ thinking, actions and feelings, so that his live will never be the same. In cognitive disorders, the patient may for example have problems with perceiving, acting or dealing with language. Research shows that about 80% of patients with cerebral hemorrhage and about 50% of patients with a stroke have acute cognitive impairment. In order to be able to perform an (apparently) simple daily operation, many steps must be taken. These steps are described in the ‘process of information processing’. Also, behavior can be subject to change. After stroke, patients often respond to events differently than they themselves and the people around them are used to. The changes in emotions and behavior of the stroke patient can severely disturb the relationship with their partner and children. Understanding of the invisible effects is therefore of great importance. The treatment of patients with cognitive impairments can focus on function recovery, strategy training (Internal compensation) and adjustment of the environment (External compensation). However, the success of the treatment, depends on the severity of the injury. In addition, actually recognizing the disorders in relation to daily functioning is of importance. Clear planning and consistent implementation, treatment and guidance by all those involved increase the likelihood of success in the rehabilitation.

Our everyday activities are ideal for patients post stroke to practice their motor and cognitive skills as these are activities that are repeated often throughout the day. ADL actions are not universal. The way in which someone performs his daily activities is determined by, amongst other things, habits and preferences, culture and environmental factors. The rehabilitation must have a logical structure, with the easy tasks being taught first before training for more difficult tasks. Repetition is key. In (re)learning of ADL activities, different phases can be distinguished: (1) the learning phase, (2) the automation phase, (3) the generalisation phase. Especially in the first period after stroke, many patients will need help from the nurse when washing, showering, shaving and dressing themselves. Dependence in this area makes many patients feel uncomfortable and the ability to for example wash themselves independently, is therefore an important goal for many stroke patients. Nurses should be matching the help and guidance to the level of functioning of the patient, since failure, frustration or insufficient stimulus can demotivate the patient.

This preliminary investigation is part of the work which demonstrates the pattern of pesticide use in the preservation of fish product in Senegal, particularly in the sites of the small coast which is the most important. We did our research in three sites of Department of Mbour, where actors which work in the fisheries product processing use synthetic pesticides, for elimination and/or prevention of any insect infestation. The product Actellic (used by 12.50% of our respondents) which is a mixture of pirimiphos‐methyl and permethrin and another insecticide called Kaata (used by 37.50% of our respondents) of unknown composition, are used by workers without metering or protective measures in handling. Among the participants of this study, 14% were found to be affected by the use of these chemicals. Such pattern of indiscriminate use of pesticides without following safety guidelines poses the risk of chronic intoxication to the workers engaged in trading of fish products in the study area, and can have long‐term adverse consequences, especially for children.

Treatment failure or tolerance, which rapidly leads to a reduced hemodynamic effects and therapeutic efficacy is the major limitation of long-term use of nitrates, including nitroglycerin (NTG) in the treatment of coronary artery disease. These effects are most often associated with oxidative stress. Thus, in this work, we were interested in the prevention of nitrate tolerance by the antioxidant compounds from Hibiscus sabdariffa L. crude extract, a plant from the Senegalese Pharmacopoeia, rich in polyphenols. Thoracic aorta segments without endothelium were taken from rats and incubated in isolated organ chambers. The vessels were then pre-exposed with the H. sabdariffa polyphenolic extract (HSE, 5.10-2 g/l) or antioxidants such as N-acetyl cysteine (NAC, 10-3 M) or vitamin C (VIT C, 10-2 M), taken as reference. After a 30 min treatment, aortic segments were exposed to NTG (50 μM, 1 h) to induce tolerance state before being contracted to adrenaline (10-8 to 10-5 M), and then relaxed with NTG (10-9 to 10-5 M). Polyphenols fromH. sabdariffa potentiated the relaxant response to NTG, whatever the state of vascular tolerance; the HSE partially corrected the in vitro nitrate tolerance. This work suggests interesting therapeutic perspectives by improving the response to treatment with nitrates in coronary patients. Key words: Nitrate tolerance, antioxidant, vascular diseases, therapeutic agents, medicinal plants.

The aim of this study is to present a theoretical study of a silicon solar cell under frequency modulation. Solving the continuity equation lead to the analytical expressions of the minority carriers' density, the photocurrent and the photo voltage. The photocurrent and the photo voltage are plotted versus the modulation frequency in a semi-logarithmic scale for various incidence angles; the dynamic impedance of the solar cell is then derived. The Nyquist diagram of the impedance is plotted for various incidence angles, leading to the determination of the series and parallel resistances. The determination of the diffusion capacitance is also made based on the Bode diagram of the solar cell impedance. The influence of the modulation frequency and the incidence angle on the diffusion capacitance and the series and parallel resistances is then exhibited.

In this study, we present the study of the photo-thermal response of a monofacial silicon solar cell illuminated by a multispectral light for a constant modulated frequency. Solving the continuity equation for minority carriers in the base of the solar cell resulting in the terms of the heat equations in the presence of an optical source. The density of minority carriers in excess, the amplitude of the variation of temperature and the heat flux density were studied and analyzed for different angular pulses and rates of recombination at the junction. Representations of Nyquist and Bode plots of the thermal dynamic impedance resulted in an equivalent electrical circuit of the photocell.

This paper presents an investigation of the energy consumption due to domestic hot water (DHW) production in large buildings. We have studied three types of reference buildings: one office, one residence and a 3-star hotel located in Senegal. The DOE2.1E (the building energy program of the Department of Energy Version 2.1E) has been used. One of its main advantage is that it allows to take into account both energy end use categories and a great number of parameters of the building energy performance. Four climatic regions have been identified and their equivalent “standard” conditions are all defined. Those conditions are the same as the current design and operating conditions of each type of building. The DHW energy consumption is calculated and compared with the total energy generated by all end uses (lighting, cooling/ventilation, DHW, and other equipment). Before we carry out wide and systematic simulations of the three buildings energy performance, we pay special attention to check and validate the DHW part of the DOE2.1E model. There was an agreement between the recorded monthly DHW energy load on the one hand, and on the other the computed results. We end up finding results that could open new perspectives for building a strategic methodology to provide guidelines for DHW energy saving measures in large buildings in West Africa. Furthermore, it is expected that energy researchers concerned about energy and environmental efficiency would consider this study for promoting CO 2 emission reduction in relation with DHW production in large buildings.

Item does not contain fulltext BACKGROUND: The optimal diagnostic strategy and timing of intervention in infected necrotizing pancreatitis is subject to debate. We performed a survey on these topics amongst a group of international expert pancreatologists. METHODS: An online survey including case vignettes was sent to 118 international pancreatologists. We evaluated the use and timing of fine needle aspiration (FNA), antibiotics, catheter drainage and (minimally invasive) necrosectomy. RESULTS: The response rate was 74% (N = 87). None of the respondents use FNA routinely, 85% selectively and 15% never. Most respondents (87%) use a step-up approach in patients with infected necrosis. Walled-off necrosis (WON) is considered a prerequisite for endoscopic drainage and percutaneous drainage by 66% and 12%, respectively. After diagnosing infected necrosis, 55% routinely postpone invasive interventions, whereas 45% proceed immediately to intervention. Lack of consensus about timing of intervention was apparent on day 14 with proven infected necrosis (58% intervention vs. 42% non-invasive) as well as on day 20 with only clinically suspected infected necrosis (59% intervention vs. 41% non-invasive). DISCUSSION: The step-up approach is the preferred treatment strategy in infected necrotizing pancreatitis amongst expert pancreatologists. There is no uniformity regarding the use of FNA and timing of intervention in the first 2-3 weeks of infected necrotizing pancreatitis.

Kangaroo care (KC) is an effective method to care for low birth weight (LBW) newborns, particularly in developing countries. The objective of this study was to estimate the efficacy of this method and its impact on morbidity and mortality of LBW infants admitted to the KC unit of Albert-Royer National Children's Hospital Center (ARNCHC) in Dakar, Senegal.This was a retrospective, single-center study from July 2011 to July 2013. We collected sociodemographic, maternal, and obstetrical data, neonatal characteristics and information during KC (age and weight at inclusion, thermoregulation, feeding, growth, and overall progression). Data were entered and analyzed using SPSS version 9.0.We included 135 newborns, with a female predominance (sex ratio: 0.78). One-third of the mothers (35.5%) were primiparous and only 21.1% had a socioprofessional activity and the majority had a low educational level. The mean gestational age (GA) was 33.08±2.06 weeks of amenorrhea and the mean birth weight 1485±370 g. There were 20 term babies with intrauterine growth restriction (IUGR) (14.8%) and 115 (85.2%) preterm newborns, 83 (72.2%) of whom, showed IUGR. The mean duration of conventional care was 12.3 days (range: 4-27 days) and the main complications were respiratory distress (46.2%), infection (36.9%), and necrotizing enterocolitis (15.1%). At KC admission, the mean post-conceptional age was 34.2±2.46 weeks and the mean weight 1445±319 g (minimum, 700 g). The main complications in KC were infections (20.2%), hypoglycemia (18.5%), and gastro-esophageal reflux disease (16.4%). Only 56.3% of the babies were exclusively breastfed. The mean weight gain during the stay in the KC unit was 15.3±9.08 g/kg/day and the mean weight at discharge was 1761±308 g. Only three episodes of hypothermia were noted. The mean duration in the KC unit was 10.2 days (range: 3-24 days). Five babies died (3.7%): one during KC, one at home, and the three others after readmission to neonatology.Kangaroo care for LBW infants is highly effective in our context. This method should be spread to a large majority of health centers in the country.

To better understand the role of problematic soils in the instability phenomena observed in Dakar, investigations and laboratory tests have been undertaken including the clay mineralogy, physical properties, mechanical properties, shear strength and shrink/swell characteristics of the soils—fine/coarse-grained volcanic tuffs and residual (weathered) soil. The results were related to the slope instability and foundation failures observed in Dakar and recommendations made to mitigate the effects of these problematic soils in future developments.

Objective: The study tested whether childhood cognitive ability moderates type 2 diabetes polygenic risk manifestation in older age. Methods: In 940 relatively healthy people (mean age 69.55 ± 0.85), we tested whether self-reported diabetes and hemoglobin HbA1c (HbA1c) levels were predicted by diabetes polygenic risk, cognitive ability measured about 60 years earlier, and their interaction. Polygenic risk scores aggregated the small effects of up to nearly 121,000 single-nucleotide polymorphisms (SNPs). Participants' cognitive ability was measured nearly 60 years earlier, at age 11. Results: Both polygenic risk and childhood cognitive ability significantly predicted diabetes diagnosis. Polygenic risk interacted with cognitive ability (p = 0.02), predicting HbA1c levels more strongly in people with below-median cognitive ability (effect r = 0.21) than in people with above-median cognitive ability (effect r = 0.10). The interaction term was not significant for self-reported diabetes (p = 0.34), although the genetic risk-diabetes association showed a tendency of being stronger among those with below-median cognitive ability. Conclusions: Higher premorbid cognitive ability may provide some environmental protection against the manifestation of type 2 diabetes genetic risk. This information may improve early identification of diabetes risk and inform intervention development.

Sub-bandgap optical absorption in the low photon energy range (0.7–1.5 eV) has been measured on the same undoped hydrogenated amorphous silicon alloys, using both CPM and DBT techniques in gap-cell and Schottky barrier (direct and reverse bias) electrical contacts configurations. Significant differences in results, sometimes larger than those noticed in the literature, are observed between spectra. These discrepancies are interpreted in terms of photocurrent equations theory, density of gap states model and light-induced or Staebler–Wronski effect.

Research of cardiac involvement in patients with rheumatoid arthritis can prevent complications and place in a logical secondary prevention. The objective of this study was to investigate the echocardiographic parameters in a population of Senegalese patients with rheumatoid arthritis without clinically evident cardiovascular manifestations.We conducted a descriptive cross-sectional study, which included prospectively from outpatients in the internal medicine department of university hospital center Aristide Le Dantec in Dakar, Senegal, with a diagnosis of rheumatoid arthritis without clinically evident cardiovascular disease. It focused on a sample of 73 patients of both sexes aged at least 18 years. Following clinical examination, we conducted laboratory tests (CRP, fibrinogen, ESR, rheumatoid factors: Latex and Waaler-Rose, anti-CCP, antinuclear factors and anti-ENA antibodies), ECG, echocardiography standard. Data were analyzed using a descriptive study of the different variables with the calculation of proportions for categorical variables, and the positional parameters and dispersion for quantitative variables.A total of 73 patients with rheumatoid arthritis without obvious cardiac events and meeting the criteria of definition of the ACR 1987 were included in the study. The mean age was 44.17±14.43 years with extremes of 18 and 75 years. The mean duration of RA was 5.93±4.78 years. The concept of family inflammatory arthritis was reported in 35.60% of cases and almost one in six patients had at least a factor of cardiovascular risk (16.96%). The abnormalities found in Doppler echocardiography were dominated by diastolic LV dysfunction (42.46%), increased left ventricular mass in 35.61%. Valvular leaks of variable grades were highlighted regarding all orifices but were rarely significant.The realization of echocardiography in patients with rheumatoid arthritis without clinically evident cardiovascular manifestations helps to highlight cardiovascular abnormalities related to the natural course of the disease.

Congenital heart diseases are one of the major cardiovascular diseases in developing countries. Most prevalence studies were based on clinical examination of children with echocardiographic confirmation of suspected cases and underestimate its prevalence. The objective of this study was to investigate the prevalence of congenital heart disease in "daara" (Koranic schools) in the city of Dakar and its suburbs on the basis of clinical examination and Doppler echocardiography in school children. This cross-sectional survey was carried out from 9(th) August to 24(th) December 2011, and included a population of 2019 school children aged 5 to 18 years in 16 selected "daaras" under the Academic Inspectorate of Dakar and its suburbs. Anamnestic, clinical and echocardiographic data were recorded in a validated questionnaire. A p0.05 was considered to be statistically significant in bivariate analysis. 2 019 school children were included out of which 60.1% were male (sex-ratio: 0.66). The average age was 9.7 years (± 3.3 years). 18 cases of congenital heart diseases were detected being a prevalence of 8.9 per 1 000 (95 % CI: 1.8 to 7.9). This included 6 cases of inter-atrial septal aneurysm, 5 cases of peri-membranous ventricular septal defects, 4 cases of patent ductusarteriosus and 3 cases of tetralogy of Fallot. Factors correlated with the presence of congenital heart disease were ageless than 8 (p0.001) and residence in the suburbs of Dakar (p0.001). We also detected 10 cases of rheumatic valvular disease, a prevalence of 4.9 per 1 000 (95% CI: 2.4 to 9.1). Our study shows a high prevalence of congenital heart diseases, which is almost identical to the WHO estimates and that ultrasound screening is more sensitive than clinical screening. Reducing the prevalence of these diseases requires implementation of appropriate policies, focusing on awareness and early detection.

The effects of soil faunal activity on the physical properties of the soils of a 2-year-old fallow in the sahelian zone of Senegal were studied. Factors studied included the presence or absence of woody shrubs and the effect of protection of plots from grazing and removal of fuel wood. The experimental design included a control in which termite activity was excluded by treating the soil with the persistent insecticide dieldrin. In both the protected and unprotected area of the experiment, termite burrowing activity (as measured by the number of entrance holes per square-metre) and water infiltration rates were significantly (ca. 80%) lower in termite exclusion plots than in plots not treated with insecticide 2 years after initial treatment. In protected plots where termites were present, there was a significant increase in infiltration rates in the part where woody shrubs were removed. In unprotected plots, by contrast, the presence of shrubs significantly increased infiltration rates, whether or not termites were present. Burrowing activity of earthworms was greater in the protected than in the unprotected area, and in the unprotected area burrowing in dieldrin treated plots was significantly increased by almost 65%. Activity of ants appeared to be little affected by the different treatments. The results demonstrate that the presence of healthy soil faunal populations was important in the infiltration of water in fallow soils and that protection from grazing and human activity improves faunal activity and water infiltration.

We outline an approach to pesticide risk assessment that is based upon surveys of pesticide use throughout West Africa. We have developed and used new risk assessment models to provide, to our knowledge, the first detailed, geographically extensive, scientifically based analysis of pesticide risks for this region. Human health risks from dermal exposure to adults and children are severe enough in many crops to require long periods of up to three weeks when entry to fields should be restricted. This is impractical in terms of crop management, and regulatory action is needed to remove these pesticides from the marketplace. We also found widespread risks to terrestrial and aquatic wildlife throughout the region, and if these results were extrapolated to all similar irrigated perimeters in the Senegal and Niger River Basins, they suggest that pesticides could pose a significant threat to regional biodiversity. Our analyses are presented at the regional, national and village levels to promote regulatory advances but also local risk communication and management. Without progress in pesticide risk management, supported by participatory farmer education, West African agriculture provides a weak context for the sustainable intensification of agricultural production or for the adoption of new crop technologies.

Pseudoaneurysm of the left ventricle is a rare late complication of myocardial infarction. So-called non-coronary forms have been described in young people. In this context, we report three cases. Mr. M.B., aged 20, consulted for chest pain associated with palpitations. Cardiovascular examination found a pulsatile, expanding precordial bulging and a mesocardiac systolo-diastolic murmur. We noted a sinus rhythm with ventricular extrasystoles on ECG. The chest radiograph showed cardiomegaly and aneurysmal deformation of the left lower heart border. Doppler echocardiography showed a large left ventricular apical pseudoaneurysm. Mrs. O.B., aged 23, was admitted for biventricular heart failure and in whom the examination found a systolic murmur in the apical area. ECG showed a regular sinus tachycardia, left atrial and ventricular hypertrophy. The chest radiograph showed cardiomegaly and aneurysmal deformation of left middle and lower heart borders. Doppler echocardiography showed a large left ventricular apical pseudoaneurysm. Mr. I.S., aged 24, admitted for the management of congestive heart failure. The patient had non-specific laboratory inflammatory signs, a sinus tachycardia and extrasystoles on the ECG. Chest radiography showed a discontinuation at the posterior arch of the sixth rib, a cardiomegaly and a neurismal dilatation of the left lower heart border. Doppler echocardiography showed a large apical pseudoaneurysm of the left ventricle.

Dear Sirs, Ataxia telangiectasia (A-T) is a rare, autosomal recessive disorder of childhood characterized by progressive cerebellar ataxia, telangiectasia, and immune defects, and is caused by mutations in the ataxia-telangiectasia mutated (ATM) gene [1]. The incidence of the disease is about 1 in 40,000 to 100,000 births [2]. A-T has been reported worldwide [3], but reports of this disease in Africa are rare and generally limited to clinical description. We describe a Malian family with parental consanguinity (Fig. 1a) and three of ten children presenting with cerebellar symptoms in early childhood. Two patients, 14- and 10-year-old boys, had normal births and development until age 2, when they presented with progressive gait difficulty, including difficulty stopping when running and falls. They both later developed slurred speech, weakness, and decreased coordination of the upper extremities. No sensory or bladder difficulty was noted. Family history was remarkable for a grandfather who died at age 75 and had balance problems since he was a teenager. Fig. 1 Pedigree and genetic features of the family. a Pedigree of the family showing consanguinity, and unaffected (white) and affected (black) individuals. b Sequencing shows a homozygous T7985A mutation (asterisk) in ATM. c ATM protein alignment in various ... Neurological examination of both patients showed an ataxic gait, markedly reduced hand coordination, and nystagmus on fixation and lateral gaze. They had slight distal weakness and atrophy in the lower legs. Reflexes were normal to reduced, and the Babinski sign was absent. The older brother had scoliosis. Cardiologic examination and testing were normal. Brain CT scan showed cerebellar atrophy with prominent cisterna magna. Vitamin E and beta and gamma tocopherol serum levels were normal. Genetic testing for Friedreich's ataxia was negative. A follow-up clinical assessment showed oculomotor apraxia, ocular telangiectasia, and square wave jerks. The parents noted that the patients had recurrent diarrhea and upper respiratory infections. These new findings were in favor of ataxia telangiectasia (Table 1). Additional blood testing showed high alphafetoprotein (AFP) levels and low IgA, IgE, and IgG2 levels. Also, aspartate and alanine aminotransferases (AST, ALT), and C-reactive protein (CRP) were elevated in the two patients, suggesting liver dysfunction. Genetic analysis of the ATM gene identified a novel homozygous single-nucleotide substitution at position c.7985T > A (Fig. 1b), predicting the amino acid substitution V2662D. Five available unaffected siblings did not have this sequence variant. The V2662 residue lies in a predicted ATP binding domain [3] and is conserved across a broad range of vertebrate species (Fig. 1c). In addition, this non-conservative amino acid change yields a score of –3 according to the BLOSUM 62 substitution matrix [4], and was not found in 100 ethnically matched controls, suggesting that the mutation found here is likely deleterious. Table 1 Summary of clinical and laboratory findings in patients More recently, the parents noticed that their 2-year-old son also had an ataxic gait. His AFP levels were elevated, but he had no telangiectasias. This highlights the usefulness of AFP testing in the diagnosis of A-T, as previously discussed [5]. Recurrent upper respiratory infections due to immune deficiency [6] occur in ataxia telangiectasia, but the two older patients also presented with frequent diarrhea, which may represent an associated infectious disease specific to the region in Mali where the patients live. Increased cancer susceptibility has been associated with A-T [7], however, hemato-oncological examination showed no signs of malignancy in our patients. In addition, abdominal and inguinal echography showed no tumors. Although cases of A-T have been reported in populations with African ancestry [3, 8] and in North Africa [9–11], reports of this disease in sub-Saharan Africa have been limited to clinical characterization [12, 13]. We report here genetically confirmed A-T with a novel mutation in this region, and add to the global spectrum of this disease. Our study shows that hereditary neurological diseases may not be uncommon in this region of Africa, although limited expertise and lack of diagnostic tools might lead to their underestimation and neglect.

This study compared erythrocyte changes between a group of subjects with sickle cell trait (SCT) and controls (subjects without hemoglobinopathy) during a soccer game in two conditions: with and without hydration. Erythrocyte deformability of subjects was assessed by the coefficient of erythrocyte rigidity (Tk) which was calculated before and after football match. Our results showed a significant increase in erythrocyte rigidity (Tk) in SCT at the end of physical activities without hydration; however when water was provided ad libitum their Tk decreased significantly, reaching values of controls. And adequate hydration is recommended in subjects with sickle cell trait during and after exercise.

Human immunodeficiency virus (HIV) infection can cause vascular complications. This is most often of lower limb venous thrombosis. Rare cases of limb ischemia indicative of HIV infection have been described.We report a case of venous thrombosis of the left lower limb and bilateral lower arterial ischemia revealing an HIV infection in a patient of 44 years. The CD4 count was 195/mm(3). Investigations on coagulation were not realized. The patient was amputated both his legs.

Massive pulmonary embolism is a life threatening pathology with a high mortality over 20%. Thrombolysis is one of therapy ways that leads to a lower rate of death. The aim of the study is to show interest, limits and complications of thrombolytic therapy in massive pulmonary embolism.This descriptive study presents 8 cases of pulmonary embolism admitted to the Cardiology Division of Grand-Yoff from March 2003 to March 2006. All cases confirmed by Tomodensitometry (TDM) with massive pulmonary embolism were included in this study.We used thrombolytic only in 8 cases of massive pulmonary embolism about 32. In-hospital prevalence was 25%. The average age was 49.8 ± 19.1 (from 15 to 72) and sex-ratio 0.33. Seven patients had a moderate clinical probability Well's score and one of them 1 had a high clinical probability. The clinical signs were: cardio-vascular collapse (7 cases), syncope (1) and cardio-vascular arrest. The electrocardiogram showed a sub-epicardial ischemia (4 cases), a right bundle branch block and a Mac Ginn White's sign. Two patients had a right-basal opacification at the chest X ray. The echocardiography found 5 cases of right ventricular dilatation, 1 case of paradoxal septum, 1 case of multiple thrombi in the right ventricule. The TDM confirmed diagnosis with 3 cases of bilateral pulmonary embolism, 1 case of pulmonary aneurysm. The treatment used thrombolytic : 1,500,000 IU of streptokinase, sympathomimetic drugs, anticoagulation with heparins and vitamin K antagonists.

Allelic variation (rs738409C→G) in adiponutrin (patatin-like phospholipase domain-containing protein 3, PNPLA3) has been associated with hepatic steatosis and liver fibrosis. The physiologic impact of the PNPLA3 G allele may be exacerbated in patients with severe obesity. In this study, we investigated the interactions of PNPLA3 rs738409 with a broad panel of metabolic and histologic characteristics of nonalcoholic fatty liver disease and nonalcoholic steatohepatitis (NASH) in patients with medically complicated obesity.Consecutive patients undergoing bariatric surgery were selected for a prospective study. They underwent extensive laboratory and histologic (liver biopsy) assessment, as well as evaluation of rs738409 polymorphism by TaqMan assay.Only 12 (8.3%) of the 144 patients had normal liver histology, with 72 (50%) NASH, of whom 15 (10.4% of total patients) had fibrosis stage 2-3. PNPLA3 GG genotype correlated positively (P0.05) with serum levels of alanine aminotransferase (ALT), asparate aminotransferase (AST), glucose, fibrinogen, and insulin-dependent diabetes mellitus, homeostasis model assessment-insulin resistance, and presence of NASH. Multivariate analysis indicated that PNPLA3 rs738409 G versus C allele remained an (independent) risk factor for NASH, in addition to CK-18145 IU/l, glucose100 mg/dl, and C-reactive protein (CRP)0.8 mg/dl. The probability of NASH increased from 9% (no risk factor) to 82% if all four risk factors were present.In this cohort of patients with medically complicated obesity, PNPLA3 rs738409 G allelic expression is associated with hepatic (NASH) and nonhepatic complications of obesity, such as insulin resistance. These novel findings may be related to a greater impact of PNPLA3 variant in magnitude and scope in patients with severe obesity than in less obese populations. Further studies are needed to characterize the nature of these associations.