[Xerodermapigmentosum: Challenge of diagnosis in West Africa]. / Xerodermapigmentosum : Difficulte diagnostique en Afrique Occidentale.

Xeroderma pigmentosum is related to a defect of the enzymes involved in repairing the oncogenic effects of ultraviolet exposure. The condition is found all over the world, in all ethnicities and races. This rare genodermatosis is often unknown in countries lacking specialist in dermatology. This scarcity and insufficiency of qualified personnel give rise to difficulties in diagnosing this pathology, especially in West Africa where XP is wrongly diagnosed for other pathologies. Objective: To share with colleagues the problem of diagnosis of Xeroderma pigmentosum in countries with insufficient number of dermatologist and poor technical platform. Observation: 21-year-old man, with no pathological history of dermatosis was seeking for medical consultation because of cutaneous dryness and photophobia. Previous visits at several health centers failed to diagnose the condition and no noticeable improvement was seen from given treatment. Verbal questioning found the notion of consanguinity (his father and his mother are cousins, and belong to the same Dogon group). Cutaneous pigmentary disorders were absent at birth but appeared at the age of 12 years. Physical examination highlighted photophobia in addition to specific clinical and paraclinical signs allowed to diagnose Xeroderma pigmentosum varying type. Conclusion: in West Africa, the challenge of diagnosis of Xeroderma pigmentosum is undoubtedly related to a lack of qualified personnel and technical means of diagnosis, which makes its frequency underestimated.

Le Xéroderma pigmentosum (XP) est lié à un défaut des enzymes impliquées dans la réparation des effets oncogènes de l'exposition aux ultraviolets. L'affection se rencontre dans le monde entier, dans toutes les ethnies et races. Cette génodermatose rare est souvent méconnue dans les pays en manque de spécialiste en dermatologie. Cette rareté de Xeroderma pigmentosum et l'insuffisance de personnel qualifié engendrent des difficultés diagnostiques de cette pathologie surtout en Afrique Occidentale où le XP est diagnostiqué à tort pour d'autres pathologies. OBJECTIF: Partager avec les confrères la problématique de diagnostic de Xéroderma pigmentosum dans les pays en insuffisance de dermatologues et de plateau technique. OBSERVATION: il s'agissait d'un patient de 21 ans, sexe masculin, sans antécédents pathologique de dermatoses, issu d'un mariage consanguin qui a consulté pour sècheresse cutanée et photophobie après un long parcours dans beaucoup des centres de santé de la place sans diagnostic et sans amélioration notable, chez qui l'interrogatoire a retrouvé la notion de consanguinité (son père et sa mère sont des cousins, et provenaient du même clan Dogon),l'absence de troubles pigmentaires cutanées à la naissance et l'apparition des troubles pigmentaires cutanées à l'âge de 16ans. L'examen physique a objectivé la photophobie en plus des signes cliniques et paracliniques specifiques ce qui a permis de retenir le diagnostic de Xéroderma pigmentosum, forme variante. CONCLUSION: en Afrique Occidentale, la difficulté diagnostique de Xéroderma pigmentosum est sans doute en rapport avec un manque de personnel qualifié et des moyens techniques de diagnostic, ce qui rend sa fréquence sous-estimée.

Xerodermapigmentosum : difficulté diagnostique en Afrique occidentale

Le Xéroderma pigmentosum (XP) est lié à un défaut des enzymes impliquées dans la réparation des effets oncogènes de l'exposition aux ultraviolets. L'affection se rencontre dans le monde entier, dans toutes les ethnies et races. Cette génodermatose rare est souvent méconnue dans les pays en manque de spécialiste en dermatologie. Cette rareté de Xeroderma pigmentosum et l'insuffisance de personnel qualifié engendrent des difficultés diagnostiques de cette pathologie surtout en Afrique Occidentale où le XP est diagnostiqué à tort pour d'autres pathologies. Objectif: Partager avec les confrères la problématique de diagnostic de Xéroderma pigmentosum dans les pays en insuffisance de dermatologues et de plateau technique. Observation: il s'agissait d'un patient de 21 ans, sexe masculin, sans antécédents pathologique de dermatoses, issu d'un mariage consanguin qui a consulté pour sècheresse cutanée et photophobie après un long parcours dans beaucoup des centres de santé de la place sans diagnostic et sans amélioration notable, chez qui l'interrogatoire a retrouvé la notion de consanguinité (son père et sa mère sont des cousins, et provenaient du même clan Dogon),l'absence de troubles pigmentaires cutanées à la naissance et l'apparition des troubles pigmentaires cutanées à l'âge de 16ans. L'examen physique a objectivé la photophobie en plus des signes cliniques et paracliniques specifiques ce qui a permis de retenir le diagnostic de Xéroderma pigmentosum, forme variante. Conclusion: en Afrique Occidentale, la difficulté diagnostique de Xéroderma pigmentosum est sans doute en rapport avec un manque de personnel qualifié et des moyens techniques de diagnostic, ce qui rend sa fréquence sous-estimée

First study of the C2491t nonsense mutation frequency in moroccan healthy population.

The mutation FV Leiden (G1691A) is the most common mutation worldwide with a variable allelic frequency between countries. More frequent in the European and Caucasian populations and rare or absent in African native population, the FVL was studied in the Moroccan population (They-They et al. Ann Hum Biol 37(6):767-777, 2010) and is totally absent as reported previously by (Mathonnet et al. Thromb Haemost 88(6):1073-1074, 2002). Here, another mutation in FV (Q773Term) was detected in a Moroccan patient, which took our interest for this study and establishes the first epidemiological database for future associated studies concerning neurovascular diseases.

Methylenetetrahydrofolate reductase C677T polymorphism and breast cancer risk in Moroccan women.

BACKGROUND: Methylenetetrahydrofolate (MTHFR) enzyme plays an important role in folate metabolism which is involved in DNA methylation, repair, and synthesis. OBJECTIVE: We investigated if the MTHFR C677T polymorphism modulates the risk of developing breast cancer in Moroccan women. METHODS: Genotyping was performed by PCR-RFLP method on a sample of 96 patients with breast cancer and 117 controls. RESULTS: A positive correlation was found between the MTHFR C677T polymorphism and progesterone receptors expression (p= 0.04). According to menopausal status, the heterozygous CT (OR = 2.29 and P = 0.03) was statistically significant in pre-menopausal women. There was a significant association between C677T polymorphism and breast cancer risk in both additive (OR = 2.2, 95% CI = 1.24-3.86, p = 0.007) and dominant (OR = 2.10, CI 95% = 1.21-3.64, p = 0.008) models. In addition, the T allele were associated with a high breast cancer risk (OR = 1.59, 95% CI = 1.04-2.44, p = 0.03). CONCLUSION: In the light of our preliminary study, 677T allele and 677CT MTHFR genotype may represent a genetic determinant increasing breast cancer risk in Moroccan women. A larger study including a larger sample size and more information is needed to confirm our conclusions.

Enquete CAP des menages sur la prise en charge de l'enfant drepanocytaire a Bamako

La drepanocytose constitue de nos jours un probleme majeur de sante publique. On trouve 5 a 20 de porteurs de cette maladie en Afrique de l'Ouest et jusqu'a 40chez certaines ethnies d'Afrique Centrale (Congo; Zaire) et du Nigeria (Begue). Au Mali sa prevalence est estimee a 12 avec 3pour la forme homozygote. C'est une maladie connue et bien documentee sur le plan scientifique et sa prise en charge est de mieux en mieux codifiee de nos jours; ce qui contribue a l'amelioration de la qualite de la vie. Face a cette situation; le CREDOS a initie cette etude dans l'objectif d'evaluer les connaissances des meres pour une meilleure prise en charge de la drepano- cytose dans les menages. Il s'agit d'une etude transversale a passage unique realisee au niveau des menages dans 6 communes du district de Bamako. Nous avons enquete 360 parents d'enfants ages de 0 a 5 ans; qui ont ete interroges selon la methode de sondage en grappes. L'etude a permis de montrer que 95;8des meres enquetees connaissent la drepanocytose. Par ailleurs 63;9des meres ne connaissent pas les complications de la drepanocytose et 58les causes. En cas de decouverte de la drepanocytose; 58;3des meres ont declare vouloir recourir a une structure sanitaire en premiere intention; 18;3a l'automedication et 13;9aux guerisseurs traditionnels. Devant une crise drepanocytaire 56ont declare avoir recours a la medecine moderne contre 15;2aux traditherapeutes. L'implication des menages dans la prise en charge de l'enfant drepanocytose souffre d'une connaissance limitee de la cause; des signes cliniques; des complications de cette maladie par les parents. Pour une meilleure connaissance de cette pathologie par les familles; l'information; l'education des populations a travers des messages IEC sont necessaires

[Knowledge, attitude and practices (KAP) of community health center staff on birth asphyxia in Kolokani (Mali)]. / Enquete cap du personnel des Centres de Sante Communautaire de Kolokani (Mali) sur l'asphyxie du nouveau ne.

Most newborn deaths are associated with birth asphyxia (40%), low birth weigt and prematurity (25%) and infections (20%). In Mali, in the Community Health Centers (CSCOM) exercises a staff composed of the nurse chief of health centers (ICPM) assuring the supervision of the matrons that is charged in pregnancy and the newborn. An investigation KAP (Knowledge, Attitudes and Practises) initiated in order to assess the knowledge and the practices of the community health centers agents on birth asphyxia. The survey was cross-sectional and that took place in September 2004. Have been included in the study the matrons, the nurse chief available at the time of the survey. The multiplicity of the names mentioned among which Ninakili dégou (27,3%) and Niominè (15,2%) are the most frequent and show the necessity of a qualitative investigation to find a name. Prolonged labor more than 12 hours (73,3%) and the stained amniotic liquid (63,3%) are the most recognized signs during labor making fear the birth asphyxia. In our survey the prolonged labor (63,7%), the infection/malaria of mother (60,7%) and the Dystocic delivery (45,5%) were the mostly reported causes of birth asphyxia. The pale or bluish coloration (69,7%), the irregular or lack of breath (69,7%), the lack of cry (63,6%) were known as the main signs of birth asphyxia. We noted some good practices as aspirating with a bulb (69,7%) and clearing upper ways with a finger covered with gauze (30,3% ); doing the mouth to mouth (51,5%); stimulating the newborn (66,7%). The improvement of the neontatal mortality requires the training of the staff and the equipment of the centers in small simple materials of resuscitation.

[Urinary tract infection in the newborn infant]. / L'infection urinaire du nouveau-né.

Urinary tract infection in the first month of life may be revealed by isolated fever, poor weight gain or severe sepsis. It is more frequent in male infants. Escherichia coli is the most common infecting agent. A urinary tract malformation is found in approximately 30% of the cases. In most cases intravenous treatment with an association of cephalosporin and aminoside is efficient. However, because of the possible involvement of an enterococcus, amoxicillin must be added until the result of the urine culture is available. Prophylaxis with oral administration of antibiotics is recommended in case of urinary tract malformation.

Using the hospital emergency department as a regular source of care.

OBJECTIVES: to evaluate the proportion of the patients who report the emergency department as their regular source of care and to describe the demographics and health status of this population. DESIGN: A cross-sectional study was performed at the emergency department in two hospitals (around 12,000 visits per year each). Subjects were interviewed using a standardised questionnaire, before and after the emergency department visit. SETTING: The medical emergency department of two university hospitals, one in Paris and one in Besançon (France). SUBJECTS: Each patient aged 15 and more attending the emergency department for a visit during forty randomly selected periods of 12 hours was included. MAIN OUTCOME MEASURES: Self report of the utilization of the emergency department as a regular source of care. RESULTS: Fourteen percent of the patients cited the emergency department as a regular source of care in Paris, and 3.3% in Besançon. In Paris, young age, being born outside of France, homelessness or precarious housing, lack of social support in case of illness and lack of health insurance were independently associated with this health care utilization behavior. CONCLUSIONS: From a public health point of view, the patients reported to use the emergency department as a primary health care structure should not be considered as 'inappropriate' or 'abusers'. Specific health needs have been found, which would require some continuity of care, a task for which the emergency department is not organised nowadays.

Prolongation of hospital stay and extra costs due to hospital-acquired infection in a neonatal unit.

A case-control study to evaluate the mean extra stay and corresponding cost of neonates acquiring a hospital-acquired infection (HAI) was performed on all patients admitted to a neonatology unit and discharged alive in 1994. Cases were identified from medical records. Controls were matched to cases for birthweight, gestational age, mode of admission to the unit, previous stay in an intensive care unit and presence of a central venous catheter. Costs were taken as those of the extra days attributable to HAI, i.e. the mean difference in the length of stay between cases and controls. Among a cohort of 616 neonates, 34 (5.5%) had one or more HAIs (average = 1.1). The mean extra cost per infected case was 52,192 FF (US$10,440), corresponding to 5.2 extra days in hospital.

Non-urgent care in the hospital medical emergency department in France: how much and which health needs does it reflect?

OBJECTIVES: The goal was to describe the use of the medical emergency department as a source of non-urgent medical care in order to assess unmet health care needs among its users. The specific objectives were thus to assess the proportion of emergency department visits for non-urgent medical care and to describe those who used the department for this reason. DESIGN: A cross sectional study was performed at the emergency department in two hospitals (around 12,000 visits per year each). Subjects were interviewed before and after the visit using a standardised questionnaire. SETTING: The medical emergency department of two university hospitals, one in Paris and one in Besançon (France). SUBJECTS: Each patient aged 15 and more attending the emergency department for a visit during 40 randomly selected periods of 12 hours was included. MAIN OUTCOME MEASURES: A definition of urgent care was adopted before the beginning of the study. Four expert judgments were then used for each case to determine whether the reason for the visit was urgent or not. RESULTS: Altogether 594 patients in the Paris emergency department and 614 in the Besançon one were included. In Besançon, the patients were older, a general practitioner was more often cited as the regular source of care, and the percentage of subsequent hospital admission was higher than in Paris (71% versus 34%). The non-urgent visits were estimated to account for 35% and 29% of the visits in Paris and Besançon respectively. Patients using the emergency department for a non-urgent visit were younger than other patients. More of them were unemployed, homeless, born outside of France, and without health insurance. CONCLUSIONS: Non-urgent use of the emergency department was observed in about one third of the visits. Groups using the department for primary care and/or non-urgent care were mostly young and socially fragile, with no regular source of health care. Their poor health condition suggests that there is a need for a structure providing primary care both inside and outside 'normal' working hours.

Placental transfer of org nc 45 in women undergoing Caesarean section.

Org NC 45 60-80 microgram kg-1 was administered to 20 pregnant women undergoing general anaesthesia for Caesarean section. Org NC 45 plasma concentrations were measured fluorimetrically in samples of maternal, venous and arterial cord blood obtained at delivery. The venous cord to maternal concentration ratio averaged 11% and was not influenced by the interval between induction and delivery. The venous cord plasma concentration averaged 40 ng ml-1. The arterial cord concentration was less than the venous cord concentration in every instance and was undetectable in four patients. It is concluded that Org NC 45 crosses the human placental barrier to a very limited extent and that its use during anaesthesia for Caesarean section is safe for the newborn.

Enquete sur les hopitaux nationaux du Mali: rapport

Nombre de pays en voie de developpement sont a la recherche de systeme de sante adequat; ou de strategies efficaces et efficientes pour assurer une application correcte de leur politique de sante. Les organismes internationaux comme l'OMS; l'UNICEF et particulierement les ONG contribuent a ces recherches en menant des essais communautaires sur le terrain. C'est dans ce cadre que se situe l'intervention du plan international dans l'arrondissement de Sanankoroba. Par la presente etude nous avons voulu apprehender l'impact qu'un comite de sante de village pouvait avoir sur la sante d'une population en terme de couverture sanitaire. [Abstract terminated]