Tuberculose pulmonaire révélée par un purpura thrombopénique chez l’enfant - à propos d’un cas clinique observé au service de pédiatrie des Cliniques Universitaires de Lubumbashi

Nous rapportons le cas d’un enfant de 7 ans, de sexe masculin ayant présenté un purpura thrombopénique avec épistaxis, hématémèse, otorragies et pétéchies généralisées. Durant la même hospitalisation, nous avons mis en évidence une tuberculose pulmonaire documentée par la présence de bacilles acido-alcoolo résistants à l’examen des crachats. Nous avons observé une majoration du taux de plaquettes en une semaine decorticothérapie intraveineuse à haute dose, avant l’instauration d’une poly chimiothérapie antituberculeuse. Nous rappelons également la controverse que suscite la prise en charge de cette association rarement rapportée.Key words: Purpura thrombopénique, tuberculose, corticothérapie, enfan

"Limb-body-Wall complex" et exposition anténatale à l’ alcool - à propos de deux cas

Le "Limb-Body-Wall complex" est une association malformative rare décrite pour la première fois en 1987 par Van Allen. Sa cause n'est pas encore connue à ce jour. L'hypothèse de l'existence de facteurs génétiques et environnementaux (alcool) associés à ces phénotypes a été évoquée dans la littérature. Nous décrivons deux phénotypes de cette association malformative complexe, diagnostiquée chez des nouveau-nés à terme. Les mères des deux propositus ont reconnu avoir consommé de l'alcool régulièrement durant leur grossesse. Il s'agit des premiers cas Congolais rapportés dans la littérature.Key words: Limb-body-Wall complexe, placento-crânienne, placento-abdominale, alcoo

AVC révélateur tardif d’un syndrome drépanocytaire majeur chez trois enfants congolais

Les auteurs rapportent 3 cas d'enfants congolais drépanocytaires dont la première manifestation documentée est un accident vasculaire cérébral.Sous un traitement fait d'hydroxyurée et d'une kinésithérapie de rééducation, l'évolution dans deux cas sur trois a été favorable. La nécessité d'évoquer le diagnostic de drépanocytose en cas d'AVC de l'enfant est soulignée, même en l'absence d'antécédents significatifs, ainsi que les alternatives possibles de prise en charge

Transposition des gros vaisseaux associée aux communications interventriculaire et interauriculaire: à propos d’un cas et revue de la littérature

Nous rapportons une observation d'un nourrisson de 5 mois présentant une transposition des gros vaisseaux associée aux communications interventriculaire et interauriculaire. Il est né à terme sans aucun facteur de risque retrouvé dans les antécédents maternels. Le diagnostic est posé, grâce à une échocardiographie, à 5 mois après sa naissance lors de la survenue d'une cyanose et d'un malaise anoxique. Une prise en charge symptomatique a permis de stabiliser l'état du patient mais suite à l'absence d'un traitement chirurgical, il est décédé à domicile 3 semaines après sa sortie de l'hôpital. Dans les pays en développement, le diagnostic de la transposition des gros vaisseaux est souvent fait en période postnatale et son pronostic reste fatal par manque des centres médico-chirurgicaux spécialisés.Key words: Transposition des gros vaisseaux, Communication interventriculaire, Communication interauriculaire, Malformation cardiaqu

Traditional eye medicine use by newly presenting ophthalmic patients to a teaching hospital in south-eastern Nigeria: socio-demographic and clinical correlates

<p>Abstract</p> <p>Background</p> <p>This study set out to determine the incidence, socio-demographic, and clinical correlates of Traditional Eye Medicine (TEM) use in a population of newly presenting ophthalmic outpatients attending a tertiary eye care centre in south-eastern Nigeria.</p> <p>Methods</p> <p>In a comparative cross-sectional survey at the eye clinic of the University of Nigeria Teaching Hospital (UNTH), Enugu, between August 2004 - July 2006, all newly presenting ophthalmic outpatients were recruited. Participants' socio-demographic and clinical data and profile of TEM use were obtained from history and examination of each participant and entered into a pretested questionnaire and proforma. Participants were subsequently categorized into TEM- users and non-users; intra-group analysis yielded proportions, frequencies, and percentages while chi-square test was used for inter-group comparisons at P = 0.01, df = 1.</p> <p>Results</p> <p>Of the 2,542 (males, 48.1%; females, 51.9%) participants, 149 (5.9%) (males, 45%; females, 55%) used TEM for their current eye disease. The TEMs used were chemical substances (57.7%), plant products (37.7%), and animal products (4.7%). They were more often prescribed by non-traditional (66.4%) than traditional (36.9%) medicine practitioners. TEMs were used on account of vision loss (58.5%), ocular itching (25.4%) and eye discharge (3.8%). Reported efficacy from previous users (67.1%) and belief in potency (28.2%) were the main reasons for using TEM. Civil servants (20.1%), farmers (17.7%), and traders (14.1%) were the leading users of TEM. TEM use was significantly associated with younger age (p < 0.01), being married (p < 0.01), rural residence (p < 0.01), ocular anterior segment disease (p < 0.01), delayed presentation (p < 0.01), low presenting visual acuity (p < 0.01), and co-morbid chronic medical disease (p < 0.01), but not with gender (p = 0.157), and educational status (p = 0.115).</p> <p>Conclusion</p> <p>The incidence of TEM use among new ophthalmic outpatients at UNTH is low. The reasons for TEM use are amenable to positive change through enhanced delivery of promotive, preventive, and curative public eye care services. This has implications for eye care planners and implementers. To reverse the trend, we suggest strengthening of eye care programmes, even distribution of eye care resources, active collaboration with orthodox eye care providers and traditional medical practitioners, and intensification of research efforts into the pharmacology of TEMs.</p

Sacrococcygeal teratoma in a female newborn with clinical features of trisomy 13: a case report from Central Africa

Toni Kasole Lubala,1,2 Olivier Mukuku,1 Mick Pongombo Shongo,1,2 Augustin Mulangu Mutombo,1 Nina Lubala,1 Oscar Numbi Luboya,1 Prosper Lukusa-Tshilobo3 1Department of Paediatrics, Faculty of Medicine, 2Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, 3Department of Paediatrics and Centre for Human Genetics, University Hospital, University of Kinshasa, Kinshasa, Democratic Republic of Congo Introduction: The objective of this report is to describe the first patient presenting clinical features of trisomy 13 in association with a sacrococcygeal teratoma. Case presentation: We present the case of a Congolese female infant born with bilateral cleft lip and palate, hypotelorism, microcephaly, and capillary hemangioma on her face. She presented with a large sacrococcygeal mass (15.0 cm &times;12.0 cm &times;5.0 cm) with a cystic consistency and a positive transillumination. Conclusion: This observation suggests that overexpression of certain genes on chromosome 13 may lead to tumor formation from remnant cells of Hensen&rsquo;s node. Keywords: Patau syndrome, Hensens&rsquo;s Node, sacrococcygeal, teratoma&nbsp;&nbsp

Pharmacogenetics of the g protein-coupled receptors

Pharmacogenetics investigates the influence of genetic variants on physiological phenotypes related to drug response and disease, while pharmacogenomics takes a genome-wide approach to advancing this knowledge. Both play an important role in identifying responders and nonresponders to medication, avoiding adverse drug reactions, and optimizing drug dose for the individual. G protein-coupled receptors (GPCRs) are the primary target of therapeutic drugs and have been the focus of these studies. With the advance of genomic technologies, there has been a substantial increase in the inventory of naturally occurring rare and common GPCR variants. These variants include single-nucleotide polymorphisms and insertion or deletions that have potential to alter GPCR expression of function. In vivo and in vitro studies have determined functional roles for many GPCR variants, but genetic association studies that define the physiological impact of the majority of these common variants are still limited. Despite the breadth of pharmacogenetic data available, GPCR variants have not been included in drug labeling and are only occasionally considered in optimizing clinical use of GPCR-targeted agents. In this chapter, pharmacogenetic and genomic studies on GPCR variants are reviewed with respect to a subset of GPCR systems, including the adrenergic, calcium sensing, cysteinyl leukotriene, cannabinoid CB1 and CB2 receptors, and the de-orphanized receptors such as GPR55. The nature of the disruption to receptor function is discussed with respect to regulation of gene expression, expression on the cell surface (affected by receptor trafficking, dimerization, desensitization/downregulation), or perturbation of receptor function (altered ligand binding, G protein coupling, constitutive activity). The large body of experimental data generated on structure and function relationships and receptor-ligand interactions are being harnessed for the in silico functional prediction of naturally occurring GPCR variants. We provide information on online resources dedicated to GPCRs and present applications of publically available computational tools for pharmacogenetic studies of GPCRs. As the breadth of GPCR pharmacogenomic data becomes clearer, the opportunity for routine assessment of GPCR variants to predict disease risk, drug response, and potential adverse drug effects will become possible