Refined 2.7 centimorgan locus in Xp21.3-22.1 for a nonspecific X-linked mental retardation gene (MRX54).

Nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. A large genetic interval of assignment obtained on individual families by linkage analysis, genetic, heterogeneity, and phenotypic variability usually are major obstacles to fine-map and identify the related disease genes. Here we report on a large Tunisian family (MRX54) with an MRX condition. X-linked recessive inheritance is strongly suggested by the segregation of MR through seven unaffected carrier females to 14 affected males in two generations. Two-point linkage analysis demonstrated significant linkage between the disorder and several markers in Xp21.3-22.1 (maximum LOD score Zmax = 3.56, recombination fraction 0 = 0 at DXS1202), which was confirmed by multipoint linkage analyses. Recombinant events observed with the flanking markers DXS989 and DXS1218 delineate a refined locus of approximately 2.7 cM in accordance with the physical distance between these two markers. The small interval of assignment observed in this family overlaps not only with nine large MRX loci previously reported in Xp21.3-22.1 but also with two inherited microdeletions in Xp21.3-22.1 involved in nonspecific MR. Although the involvement of several genes located in the Xp21.3-22.1 region cannot be ruled out, data reported in this study could be used as a starting point for the search of such gene(s).     

De novo trisomy 20p of paternal origin

We report on a case of a de novo trisomy 20p in a 5-year-old boy. The patient presented with dysmorphic features, mental retardation, poor coordination, cardiac malformation, kyphosis, hypospadias, cryptorchidism, and preaxial hexadactyly. No growth delay was noticed. Standard karyotype and FISH techniques allowed the characterization of the chromosome rearrangement showing a duplication spanning almost the whole short arm of chromosome 20. Therefore the karyotype was interpreted as 46,XY,der(20)(pter --> q13.3::p11.2 --> pter). Molecular studies identified the duplication of paternal origin. This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature.     

Some biological effects of scorpion envenomation in late pregnant rats

Scorpion envenoming is less studied during gestation; however, it may induce various biological disturbances in maternal organism and hypothetical ones on their fetuses. The scope of this report was to elucidate some biological effects of such poisoning in late pregnant rats. Hence, TBARS levels in maternal lung, placental and fetal pulmonary and hepatic tissues and dam's biochemical blood parameters (glucose, creatinine, 17-β estradiol, progesterone, blood nitrogen urea, sodium and potassium maternal plasma concentrations) had been evaluated after saline (G1), and scorpion venom (G2: 30 min and G3: 60 min) injections in 22nd day pregnant rats. Histological microscopic examination of these tissues was also carried out in HE-stained paraffin sections. In addition, the mean arterial blood pressure following the envenomation variations was measured in three rats from the same pool. Our results showed that Buthus occitanus tunetanus crude venom induced significant increase in maternal, placental and fetal tissues lipid peroxidation, concomitant with blood pressure elevation. Maternal plasma creatinine, estradiol and progesterone concentrations levelled up significantly after 30 min or later (60 min) after the venom injection. Except for a probable pronounced oedema and few congestions in maternal lungs and degenerative aspects of trophoblast cells, all examined tissues showed a conserved structure. These results suggest that scorpion envenomation may induce gestation process disturbances and threatens both mother's and fetus’ well-being.     

Role of tumor necrosis factor in Crohn's disease

Tumor necrosis factor-alpha (TNF alpha) is one of several pro-inflammatory cytokines that have been implicated in the pathogenesis of Crohn's disease (CD). Treatment with antibodies to TNF alpha has been shown to reduce mucosal inflammation in the disease, promote tissue healing, achieve and maintain remission, improve the CD activity index (CDAI) and improve the quality of life. The first part of this article reviews the role of TNF alpha in CD.     

Abdomino-pelvic actinomycosis: a case report

The actinomycosis is a chronic suppurative granulomatosis disease. It is owed to a bacillus gram positive; actinomycès israelli. The cervical and thoracic localizations are most frequent. The digestive localization represents 20% of cases. It interest very rarely the pelvis and the genital tracts. We bring back the observation of a patient old of 30 years admitted for mass abdominal. To the exam, the patient had a sensibility of the left hypochondriac area and we found a mass of 6 cm of diameter. To the rectal touch, we found a mass in the bag of Douglas. The echography and the computed tomography revealed a collection under the spleen and a pelvic collection. A rectotomy is performed. The bacteriological study isolates actinomycès israelli. The collection under the spleen is drained under radiological control. Actinomycès israelli is also recovered in the pus brought back by the puncture. The patient is treated by Penicillin. The patient had a favourable evolution. No etiology is found at this patient. For this observation, the collection was accessible to a drainage permitting the diagnosis and the treatment of the actinomycosis while avoiding a mutilated surgery.     

Pathomimia in upper limb

Pathomimia, or factitious disorders, are characterized by producing symptoms voluntarily with the intention of playing the role of the patient. Inspite of being considerd as a psychatric disorder, pathomimuia is often encountered in the daily professional life of doctors without being recognized or diagnosed. There are various clinical aspects of pathomimia. The items that decide the orientation of the diagnosis are essentially the uncommon and odd expression of the reported symptoms, A capricious evolution as well as the multiplicity of the past medical cases. We report a group of five patients who were followed and treated between the years 2000 and 2003. This group was composed of three men and two women with an average age of 30 years. In three cases, we found the notion of skin injury. In one case, we noted a median nerve lesion in the elbow and once in the right upper member. The evolution was performed towards recidives of the initial symptomatology with more or less long periods of improvements.     

Interest in prolactin levels in galactorrhea

The action of prolactin (PRL) in supra-physiological levels on the ovaries or on the hypothalamic-pituitary axis for the release of gonadotropins leads to a reversible inhibition of the cyclic functioning of the pituitary gland and of the ovaries. The consequences are either the production of immature follicles marked by anovulatory or dysovulatory cycles, or the absence of follicle production marked by amenorrhea. Thus, prolactin plays a major role in the productive system by its lactotropic and antigonadotropic effects. Through this study we intend to try to determine the diagnostic value of the association of the cyclic dysfunctions with galactorrhea by measuring the prolactin levels in 2236 patients complaining of galactorrhea. Measurements of FSH and LH levels were also performed in 236 women among those consulting for infertility associated with galactorrhea. The results obtained showed that galactorrhea was associated with prolactenemia in only 17% of cases and of the ovaries was proportional to the prolactin in blood.