Le diagnostic génétique pré-implantatoire: premier bilan du groupe parisien

This paper reports the birth of the first fourteen infants conceived after preimplantation genetic diagnosis (PGD) in our unit. Fifty-nine couples were enrolled between January 2000 and July 2001. They had a total of 71 oocyte pick-up cycles. The collected oocytes were inseminated by intracytoplasmic sperm injection. The resulting embryos were biopsied on the third day of development and genetic analysis was performed on the same day. Most of the embryo transfers were carried out on the fourth day. The 71 oocyte pick-up cycles yielded 872 oocytes of which 731 were suitable for intacytoplasmic sperm injection. Among the 505 embryos obtained, 421 embryos were biopsied and genetic diagnosis was performed for 312 (74%) of them. 127 embryos were transferred during 58 transfer procedures. There were 18 biochemical and 12 ongoing (7 singles, 4 twins and 1 triple) pregnancies. Sixteen infants have been born and 2 are expected. PGD now constitutes an alternative for couples at risk of transmission of a serious and incurable genetic disease.     

Incidentalomes parotidiens en TEP-18F-FDG : prévalence,diagnostic et impact thérapeutique

Objective

Parotid gland incidentalomas are unexpected hypermetabolic foci in the parotid region that can be found when scanning the whole-body by PET/CT. The role of SUVmax is controversial to differentiate benign or malignant tumours in this indication. The aim of this study was to determine PET/CT features of malignant parotid incidentaloma, in order to improve medical care.

Importance de l’étape pré-analytique en spermiologie pour le diagnostic et l’évaluation des thérapeutiques

Semen analysis is subject to great variability, partly due to the mechanism of ejaculation. This variability can be reduced by taking certain precautions, such as interviewing the patient to eliminate any external factor of variability, by imposing a 3- to 5-day period of sexual abstinence, by explaining the procedures to avoid bacterial contamination of the sample, by verifying whether the whole semen sample has been collected, by checking that the temperature of the sample is maintained at 37°C and finally, by carefully homogenising the sample to obtain good quality liquefaction.     

Spermatozoïdes,environnement et prévention

Over the last fivty years, the risk factors for infertility have increased substantially, particularly those due to the environment. Spermatogenesis and spermatozoa can be affected by physical (ionizing radiation microwaves, heat, cryopreservation) or chemical agents (antimitotics drugs, antibiotics, tranquillizers, insecticides, pesticides, industrial solvants, some heavy metals, alcohol, cannabis etc.). Some natural factors, as stress or paternal age (ageing or very youthful age relatively to about thirty) also seems to affect spermatogenesis and, particularly, the age can be joined with the previous ones. On the whole, these factors are able to decrease the male fertility through some changes about the concentration, the motility or the morphology of spermatozoa and so it is possible to describe populations subject to the risk. Moreover, these spermatogenetic changes can lead abnormalities in progeny. For instance, some antimitotic drugs as cyclophosphamide, when administrated to the male rat, lead malformations or functional anomalies as behavioral troubles. The industrial solvents lead a decrease of the birth weight and the cannabis leads an increase of the ante-or post-natal death. Moreover, the change of the paternal spermatogenesis caused by cannabis can be found again in the male progeny. The problem is similar with the lead, the benzodiazepines and the alcohol. Concerning the physical factors, some authors have shown that the children born from radiation exposed fathers presented an increase of the probability of leukemia. In animal, the postimplantation loss is increased when the father is irradiated or subjected to heat before mating. Finally, the paternal ageing is responsible for new dominant autosomic mutations. Moreover, in animal and man, paternal ageing and, in man, very youthful age, also seems responsible for a gradual lowering in the level of progency cerebral functions. On the whole, these data should lead to an preventive attitude which would be more effective before about thirty years of age than after this period.     

Le pré-analytique en hémostase

La phase pré-analytique est celle de tous les dangers, en particulier lorsque le biologiste n’a pas la ma?trise du recueil de l’échantillon et de son acheminement au laboratoire. En hémostase thrombose, elle est essentielle. Les paramètres pré-analytiques sont d’importance inégale selon les différents examens et leur retentissement peut varier d’un réactif à l’autre et selon les patients. De fait, il existe un risque de rendre un résultat erroné, même avec une technique irréprochable, ainsi qu’un problème de responsabilité technico-légale. La littérature sur les conditions pré-analytiques est pauvre et de nouvelles études sont nécessaires, même si elles sont difficiles à mener et peuvent para?tre de peu d’intérêt. En réalité, leur utilité est aujourd’hui indéniable, en raison notamment du regroupement des laboratoires.     

Epidémiologie,diagnostic et pronostic du cancer de la prostate

Prostate cancer is the most frequent of cancers and represents the third leading cause of death by cancer, for men over 50 years, in France and Europe. The incidence decreases since about ten years. Mass screening is not recommended. Individual early diagnosis is based on a yearly exam including Prostate Specific Antigene (PSA) blood test and a digital rectal exam. The target for this diagnostic approach are men from 50 to 75 years with more than 10 years of life expectancy. A series of prostatic biopsy are carried out in case of clinical and/or biological prostate cancer suspicion. The additional examinations recommended in the assessment of extension of prostate cancer with intermediate and high risk are: MRI, bones scintigraphy, scan CAP (metastatic stage), and sometimes Choline PET-CT. Curative treatments are proposed to men with a probability of survival over 10 years, suffering from localized or locally advanced cancer. Gold standard treatments are: active surveillance, radical prostatectomy, brachytherapy, radiotherapy alone or with surgery and/or hormone therapy. Experimental treatments of localized tumors are: focal treatments (phototherapy dynamic, high intensity focused ultrasound). For the more advanced forms, the interest of early chemotherapy is extensively studied.     

La température,facteur prévisionnel du cycle évolutif deProspaltella perniciosi Tow

Résumé Par application de la méthode deBondenheimer en prenant 10 °C pour seuil inférieur de développement du parasite, il a été calculé le nombre de jours/degrés nécessaires à l'évolution moyenne deProspaltella. Avec cette méthode, le nombre de générations calculé est identique à celui observé dans divers vergers de différentes régions. La méthode est proposée pour faciliter l'emploi deProspaltella en déterminant le temps nécessaire à la manifestation de l'efficacité.

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Summary By application of theBodenheimer's method, in taking 10°C for the threshold of the parasit development, the number of days/degrees necessary for a mean evolution ofProspaltella has been calculated. With this method, the theoretical number of generations is identical with that observed in several orchards of some countries. This method is suggested to facilitate the use ofProspaltella by fixing the time necessary to show the parasite's efficiency.

     

Nouvelle stratégie dans le diagnostic,la prévention et le suivi de l’ostéonécrose drépanocytaire en Côte d’Ivoire à partir de la scintigraphie osseuse

Osteonecrosis is the most frequent complications of sickle-cell disease (SCD) whose prevalence in Côte d’Ivoire is 21%. The main of this study was to compare scintigraphy, clinical and radiological observations to assess earlier diagnosis in SCD osteonecrosis. It was a prospective study about 45 SCD patients who presented coxopathy and had radio-labelled diphosphonates bone scintigraphy. The results revealed 49% of lesions whose 48% appeared wiyh homogeneous hyperfixation, 11% homogeneous hypofixation, 5% of hypofixation contourned by hyperfixation. Eighty-one percent of lesions concerned femoral head, 6% femoral condyle and 3% humoral head. Fifty percent of osteonecrosis was not visible in radiology and corresponded to the earlier stade. These invisible radiology aspects were observed in 100% hips without lameness, and in 43% permanent lameness. Scintigraphy (sensitive in 100%) isolated 38% more than conventional radiography. In main to improve SCD osteonecrosis prognostic in Côte d’Ivoire, this preliminary study outline that scintigraphy is fundamental in management.     

Services d’éducation préscolaire et comportements agressifs : un rôle de prévention pour les familles vulnérables

Context

Physical violence is a significant problem in health terms and for society as a whole. Many studies have shown that socio-economic indicators such as poverty and poor parental educational attainment are associated with an increased risk of difficulties in social adjustment of the child. The hypothesis of this study was that the pre-school educational services (PES) could help to prevent the development of physical aggression (PA) in the children of vulnerable families, and that this would depend on the age at which the child first had access to the service.

Methods

Identification of children presenting with a pattern of increased PA between 17 and 60 months of age, taken from a representative sample of children born in Quebec (N = 1691). We took into consideration the educational level of the mother and the age at which the child started to receive PES. We examined the association of these factors with the PA group to which the child belonged, while controlling against several other family characteristics which are associated with PES and PA.

Results

The children of mothers with a low level of educational attainment (no secondary school qualification) were less likely to have received PES than the others. Those who had received such attention had a considerably reduced risk of displaying a behaviour pattern of increased PA. The results of multiple logistic regression analysis revealed that the PES reduced the risk of high PA, especially if the child was exposed to the service before the age of 9 months (d = ?0.62; SD = 0.24; 95% CI: ?1.09 to ?0.16; odds ratio = 0.20; 95% CI: 0.05–0.9). Children whose mothers had obtained a secondary school diploma were at reduced risk of high PA. For them, the PES did not represent an additional protective factor.

Interpretation

PES directed towards children of poorly educated mothers might reduce considerably the risk of chronic physical aggression, especially if initiated soon after birth. As those children who aremost likely to benefit from PES are the least likely to receive it, it is necessary to put special measures in place to direct this sort of service towards at risk families.     

L’éléphantiasis pénoscrotal, diagnostic et prise en charge: à propos de trois cas

Penoscrotal elephantiasis is a rare disease outside areas where filariasis is endemic. It is a benign disease but can become disabling in that it can make sexual relations difficult and sometimes even affect urination. We report three cases of primitive penoscrotal elephantiasis treated with complete surgical resection of pathological tissue and penoscrotal reconstruction, with good functional and aesthetic results. We update, through our own experience and a review of the literature, aspects of the diagnostic and therapeutic care of penoscrotal elephantiasis.     

Effets,sur les potentiels évoqués auditifs précoces,d'un bruit de trafic routier,d'une benzodiazépine et de leur conjugaison

In this study, 30 young men and 30 young women (with the same proportion of anxious persons in each group) were submitted, in random order, to: i) a road traffic noise of 75 dBA for 15 min; ii) this same noise for 15 min, having ingested 0.25 mg of alprazolam (Xanax^*) l h before; iii) uniquely 0.25 mg of alprazolam. The auditory brainstem evoked potentials (ABEP) were taken before and after exposure to noise (for the non-noise case, we respected the same time schedule). The alprazolam had an effect on the cochlea and can be considered as a noise adaptation factor on the auditory pathways explored by the ABEP.     

L'Inhibine B chez les blessés radiculo-médullaires. Résultats préliminaires

Spinal cord injuries in adult men sometimes results in semen alteration and in ejaculation missing. Testicular biopsies showed spinal cord injury is bound with testicular and germinal cells alterations. An endocrine profile for thirteen patients without semen at the time of the study is performed: total testosterone, bioavailable testosterone, FSH and inhibin B. Compared with seven normal controls, subjects with spinal cord injury had a significantly lower value of total testosterone, bioavailable testosterone and inhibin B. The FSH values higher in spinal cord injury are not significative. These results allowed to expect inhibin B like a good marker of testicular function and spermatogenesis. A longitudinal and on more subjects will answer to this question.     

Personnalisation des émotions et cortex médial préfrontal

Functional brain imaging studies in healthy subjects suggest that several regions (prefrontal cortex, amygdala, thalamus, hippocampus, anterior cingulate) have specialized functions for emotional operations. Within these regions, the medial prefrontal cortex (MPFC) is considered to have a general role in emotional processing. Using a memory paradigm with verbal material, we recently demonstrated that the MPFC is specifically involved in self-related processing of emotional stimuli. Study with mood induction also suggest that personality traits may modulate the reactivity of the MPFC to emotional Stressors. Taken together these findings support the hypothesis that the MPFC subserve processes involved in emotion regulation. Dysfunction of the MPFC and related structures (i.e. amygdala) may increase the vulnerability to emotional disorders.