Search

ABSTRACTThe objective of this study was to evaluate the diagnostic performance of the Roche multiplex AMPLICOR Chlamydia trachomatis/Neisseria gonorrhoeaePCR test for the detection ofNeisseria gonorrhoeaeinfection in female urine specimens and wet and dry endocervical swabs. Endocervical swabs and urine specimens were collected from 342 female sex workers from Cotonou, Benin, and were tested using the AMPLICOR C. trachomatis/N. gonorrhoeaetest (Roche Diagnostic Systems, Inc., Branchburg, N.J.) with internal control detection. Endocervical swabs were also cultured on Thayer-Martin medium. A series of alternate standards that included a combination of all the tests but not the test being evaluated was used to assess the performance of the test with each type of specimen. The sensitivity, specificity, and positive and negative predictive values for the urine were 53.8, 98.9, 93.5, and 87.5%, respectively. Corresponding figures for the wet swab were 91.5, 100, 100, and 97.4%, respectively. Those for the dry swab were 96.3, 96.2, 88.5, and 98.8%, respectively. Based on this study, the AMPLICOR PCR assay showed a low sensitivity for detection of N. gonorrhoeaeinfection in urine specimens, whereas the test was found to be highly sensitive and specific with endocervical specimens.

The objective of this study was to delineate a chromosome 13 abnormality and establish its clinical correlation by using molecular cytogenetics procedures. A newborn boy presented with clinical findings, including mild symmetric intrauterine growth retardation (IUGR), small ears with thickened helices, a scalp lesion, short fifth fingers, missing toes, and talipes equinovarus. Routine G-banding of cultured peripheral blood cells revealed that the patient had one abnormal and shortened chromosome 13, but uncertainty remained as to whether the abnormality was the result of an interstitial deletion or a translocation. Thirteen copies of G-banded abnormal chromosomes 13 were isolated with microdissection and amplified with PCR using degenerate oligonucleotide primers. Fluorescence in situ hybridization (FISH) of the PCR product to normal metaphases showed one pair of acrocentrics hybridized, more or less uniformly, along the length of the long arm with an unhybridized gap in the distal region, indicative of an interstitial deletion. Sequential FISH and G-banding of the same chromosome preparations conclusively demonstrated that the deleted segment was 13q22-q32. Four cases of del(13)(q22q32) have been previously reported. The common findings in all five cases, including the present one, are psychomotor and growth retardation, as well as hand and foot anomalies.

Mouse null mutants of transcription factor ATF-2 were generated by the gene targeting method. They died shortly after birth and displayed symptoms of severe respiratory distress with lungs filled with meconium. These features are similar to those of a severe type of human meconium aspiration syndrome. The increased expression of the hypoxia inducible genes suggests that hypoxia occurs in the mutant embryos and that it may lead to strong gasping respiration with consequent aspiration of the amniotic fluid containing meconium. A reduced number of cytotrophoblast cells in the mutant placenta was found and may be responsible for an insufficient supply of oxygen prior to birth. Using the cDNA subtraction and microarray-based expression monitoring method, the expression level of the platelet-derived growth factor receptor alpha gene, which plays an important role in the proliferation of trophoblasts, was found to be low in the cytotrophoblasts of the mutant placenta. In addition, ATF-2 can trans-activate the PDGF receptor alpha gene promoter in the co-transfection assay. These results indicate the important role of ATF-2 in the formation of the placenta and the relationship between placental anomalies and neonatal respiratory distress. The ATF-2 null mutants should enhance our understanding of the mechanism of severe neonatal respiratory distress.

Human dehydroepiandrosterone sulfotransferase (DHEA-ST) catalyzes the sulfonation of DHEA, cholesterol, pregnenolone as well as androsterone. RNA blot analysis shows two DHEA-ST mRNA species of 1·3 and 1·8 kb that are expressed similarly in liver and adrenals. To determine whether the form expressed in adrenals is distinct or identical with the one expressed in liver, we have cloned and sequenced the 1·8 kb DHEA-ST cDNA from human adrenal cDNA library. Except for one nucleotide difference, the human adrenal and liver DHEA-ST cDNAs are identical. Using expression vectors containing the chloramphenicol acetyltransferase (CAT) reporter gene ligated to various fragments of the DHEA-ST gene promoter, we have shown that DHEA-ST gene promoter activity is stimulated by estradiol (E2). The E2stimulation is inhibited by the anti-estrogen EM-139. In contrast to human DHEA-ST, guinea pig hydroxysteroid sulfotransferases show high substrate- and stereo-selectivity. We have cloned a chiral-specific pregnenolone sulfotransferase (PREG-ST) which catalyzes mainly the transformation of pregnenolone to pregnenolone sulfate.Estrogen sulfotransferase catalyzes the conversion of estrone and estradiol to their inactive sulfated forms and could thus play a major role in the control of estrogen levels in target tissues. Recently, using a probe derived from bovine estrogen sulfotransferase, we have cloned a cDNA and gene that we first named human estrogen sulfotransferase (hEST) since the expressed enzyme is able to transform estrone to estrone sulfate. Actually, the Hugo nomenclature committee named this gene STMgene because it also codes for monoamine-sulfating phenolsulfotransferase (M-PST). hEST1 possesses the same coding and 3′-untranslated region as human brain aryl sulfotransferase (HAST) and M-PST, but different 5′-noncoding region. Analysis of hEST1 gene sequence indicates that hEST1 and HAST3 or M-PST mRNA species are transcribed from a single hEST1 gene by alternative promoters using two separate exon I, named exon la and exon Ib. We also described the identification of a third mRNA species (M-PSTγ) issued from the STMgene and the characterization of the structure of the phenol-sulfating phenolsulfotransferase (STP) gene that is highly homologous to the STMgene. Similar to STM, the STPgene generates multiple mRNA species that differ only in the 5′-untranslated sequence.Journal of Endocrinology(1996) 150,S87–S97

The aim of the study was to evaluate the effectiveness of in-office physiotherapy for stress, mixed and urge incontinence. All subjects underwent urodynamics. Those with stress incontinence received pressure biofeedback pelvic floor exercises and electrical stimulation. Those with detrusor instability and mixed incontinence received bladder drills, anticholinergic medications, electrical stimulation and pressure biofeedback pelvic floor exercises. All those with atrophic vaginitis received vaginal estrogen. Weekly treatment sessions for 4 weeks and then monthly for 2 months were directed by a trained gynecologic nurse. Weekly bladder diaries were kept. Outcome measures included diary-recorded incontinence episodes and subjective reporting of continence. One hundred and four women completed the program. Weekly incontinence episodes decreased from 22 to 2 (<0.05) in both stress and detrusor instability/mixed incontinence groups. An average of 4.5 sessions over 6.1 weeks was necessary for optimal response; 86% reported subjective improvement. It was concluded that multimodality treatment of incontinence leads to a 90% reduction in incontinence episodes. The relative contribution of each treatment modality requires further study.

The HADES project (High Activity Disposal Experimental Site) aims at demonstrating the technical feasibility and the long-term safety of geological disposal of reprocessed HLW (High-Level Wastes) radioactive wastes. This disposal could be realised in the Tertiary Boom clay formation below the Mol/Dessel nuclear site. Previous studies in the 80's on the geomechanical behaviour of Boom clay, at host rock temperature (15°C), have demonstrated the mining capabilities of this clay. European partners have collaborated to increase the number of in-situ tests to be developed and operated from the Underground Research Facility (URF). Integrated large-scale experiments have been developed during the last four years, within the framework of the Commission of the European Communities (CEC) research contracts, in order to gain more insight into the thermal influence of heat-emiting wastes on the clay behaviour in the near field.

A lung embolism was reported in a case involving death following repeated injections of liquid silicone for aesthetic reasons. The liquid extracted from the sites of injection was identified as methylsilicone using infrared spectrophotometry, and the presence of silicone in vacuoles in the lung was verified by scanning electron microscopy with energy dispersive X-ray analysis (EDXA). A study has been carried out with rats after intravenous and subcutaneous injections of methylsilicone.

Background:Cerebellar atrophy is characterized by loss of cerebellar tissue, with evidence on brain imaging of enlarged interfolial spaces compared to the foliae. Genetic ataxias associated with cerebellar atrophy are a heterogeneous group of disorders. We investigated the prevalence in Canada and the diagnostic yield of whole exome sequencing (WES) for this group of conditions. Methods:Between 2011 and 2017, WES was performed in 91 participants with cerebellar atrophy as part of one of two national research programs, Finding of Rare Genetic Disease Genes (FORGE) or Enhanced Care for Rare Genetic Diseases in Canada (Care4Rare). Results:A genetic diagnosis was established in 58% of cases (53/91). Pathogenic variants were found in 24 known genes, providing a diagnosis for 46/53 participants (87%), and in four novel genes, accounting for 7/53 cases (13%). 38/91 cases (42%) remained unsolved. The most common diagnoses were channelopathies in 12/53 patients (23%) and mitochondrial disorders in 9/53 (17%). Inheritance was autosomal recessive in the majority of cases. Additional clinical findings provided useful clues to some of the diagnoses. Conclusions:This is the first report on the prevalence of genetic ataxias associated with cerebellar atrophy in Canada, and the utility of WES for this group of conditions.

Le syndrome de Kabuki (KS), décrit par Niikawa et Kuroki en 1969, tient son nom du maquillage traditionnel utilisé au Japon dans les théâtres de Kabuki. Le pilomatricome (PMC) peut être associé à des syndromes génétiques. Trois cas de KS porteurs du gène MLL2 ont été adressés en dermatologie pour papulo-nodules cutanés confirmés comme PMC par biopsie. Le but de cette présentation est de discuter de la prédisposition de cette tumeur annexielle qui pourrait ne pas être une fortuite en raison du fait que les PMC sont fréquemment associés à la mutation de la β-caténine et que les KS présentent des anomalies ectodermiques et des anomalies du développement embryologique.