Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations.

Carriers of structural chromosomal anomalies, translocations and inversions are at increased risk of aneuploid gametes production. Besides the direct effect on the involved chromosomes, these rearrangements might disturb the segregation of other structurally normal chromosomes during meiosis. Such event is known as interchromosomal effect. In this study, six male carriers of translocations, four reciprocals and two Robertsonians, were investigated. In addition, seven fertile men with normal 46,XY karyotypes and normal sperm characteristics were enrolled as a control group. Spermatic fluorescent in situ hybridisation specific for chromosomes X, Y, 18, 21 and 22 was carried out. The Mann-Whitney U-test was used to compare the aneuploidy rates between patients and controls. All translocation carriers showed significantly increased frequencies of disomy of all investigated chromosomes, and diploid gametes compared with the control group (p < .05). However, disomy XY was not significantly different between controls and patients (p > .05). We have also observed a considerable interindividual variability in disomy and diploidy rates. These results confirm that the interchromosomal effect seems to exist and could contribute to higher rates of abnormal prenatal aneuploidy, resulting in a small increase in the risk of miscarriage and birth of children with congenital abnormalities and a potential reduction in fertility.

Evaluation of a new PT-INR monitoring system in patients with the antiphospholipid syndrome.

INTRODUCTION: Patients on anticoagulant therapy with vitamin K antagonists (VKA) need frequent INR monitoring. Reliability of point-of-care (POC) devices for measuring INR needs rigorous evaluation, particularly in patient with the antiphospholipid syndrome (APS). The aim of this study was to evaluate the accuracy of the ProTime InRhythm(™) System (here called device) for INR measurement in patients with APS on VKA. METHODS: We compared the device INR vs. the laboratory INR measurement for blood samples from 29 APS-positive and 31 APS-negative patients consecutively enrolled. APS was confirmed by positive serological and/or phospholipid-dependent coagulation tests. Chromogenic factor X assay was used to evaluate anticoagulation. Bland-Altman difference plot for paired INR (POC vs. laboratory) was used to evaluate agreement between the device and the laboratory. The device INR relationship with factor X chromogenic assay was evaluated by orthogonal regression analysis. RESULTS: Overall, 97% of the device INR measurements were similar to laboratory INR values with an absolute difference less than 0.4 units. Correlation coefficient for the device INR vs. factor X was -0.69 (P < 0.0001, CI 95% -0.80 to -0.52). CONCLUSIONS: The ProTime InRhythm System(™) is an accurate point-of-care device for measuring INR also in patients with and without APS.

[Impulsivity and externalization and internalization problems in adolescents]. / Impulsivité et problèmes d'internalisation et d'externalisation chez l'adolescent.

OBJECTIVES: The multidimensional aspect of the concept of impulsivity is proven by the composite structure of the rating scales of impulsivity. Several studies have already found correlations between trait-impulsivity and externalizing disorders. However, the studies interested in the relationship between trait-impulsivity and internalizing problems are rare. We have tried to explore correlations between impulsivity and externalization and internalization problems, in a population of adolescent outpatients. METHODS: We recruited 31 adolescent out-patients in the child and adolescent psychiatry department in the University Hospital of Monastir, Tunisia. The Barratt Impulsivity Scale (BIS) was used to evaluate a multidimensional concept of trait-impulsivity, including the dimensions of "Motor", "Non-planning" and "Attentional" impulsivities. The Strength and Difficulties Scales (SDQ) was used to assess different domains of externalizing and internalizing problems, including "Emotional symptoms", "Conduct problems", "Hyperactivity" and "Peer problems". RESULTS: The sex-ratio was 1.21. The mean age was 15.19±1.27 years. All patients but one were attending school. The diagnosis was "Major Depressive Episode" in 32% and "Behavior Disorder" in 38%. The means of the scores of externalizing and internalizing problems were 9.35±4.41 and 9.65±3.26, respectively. The total score of the BIS was significantly related to both scores of externalizing and internalizing problems. The "Motor" impulsivity was specially correlated with the externalizing dimension of the SDQ. The non-planning impulsivity was correlated with both scores of externalizing and internalizing problems, but it was mainly related to internalizing problems. The attentional impulsivity was also correlated with both dimensions of externalizing and internalizing problems. CONCLUSION: The dimensions of trait-impulsivity were correlated with various dimensions of the SDQ concerning externalizing and internalizing problems. That confirms the hypothesis that the impulsiveness is associated with wide domains of the psychopathology of the teenager which are not limited to behavior disorders. We can process these problems by influencing the "Motor impulsivity" and "Non-planning impulsivity". The cognitive and behavioral therapy and the selective serotonin reuptake inhibitor may be efficient.

Detection of TT virus by single-primer sequence-independent amplification in multiple samples collected from an outbreak of gastroenteritis.

A panel of gastroenteritis outbreak samples was subjected to a virus purification and concentration algorithm followed by a sequence-independent amplification method devised to detect viral enteric pathogens. The application of these methods allowed the identification of torque teno virus (TTV) in one outbreak. The complete genome sequence of 3,260 nt was obtained through "genome walking", and four open reading frames were deduced from the genomic sequence. Phylogenetic analysis grouped this virus in TTV genetic group 3, clustering with genotype 27, with 85% similarity at the nt level with strain SAa-01.

Optimisation of a single-primer sequence-independent amplification (SP-SIA) assay: detection of previously undetectable norovirus strains associated with outbreaks of gastroenteritis.

The introduction of molecular diagnostic methods for investigation of gastroenteritis has significantly reduced the diagnostic gap. However, approximately 25% of cases of gastroenteritis remain undiagnosed even after screening for bacteria, parasites and viruses using the most sensitive PCR and RT-PCR methods available. In recent years, it has become apparent that viruses are responsible for the majority of outbreaks of gastroenteritis. In this study, a panel of samples from outbreaks of gastroenteritis for which no aetiological agent had been identified was selected for investigation by random amplification molecular methods. An algorithm for virus purification and concentration was developed followed by a single-primer sequence-independent amplification method. These methods resulted in the identification of viruses in 5 out of 51 previously negative outbreaks. Noroviruses undetectable using two available broadly reactive diagnostic methods were detected in 4 of these outbreaks.

Very-long-chain fatty acids activate lysosomal hydrolases in neonatal human skin tissue.

OBJECTIVE: The aim of this study was to examine the in vitro effect of peroxisomal dysfunction on lysosomal enzymes, the autophagic machinery in the cell, in order to understand the mechanisms of pathogenesis of peroxisomal disorders. MATERIALS AND METHODS: Foreskin samples were obtained immediately after circumcision of 1- to 2-day-old infants at the Maternity Hospital, Kuwait. Skin tissues were cleaned, cut into slices of 1-2 mm2 in size and treated with lignoceric acid (1-20 microg/ml), a very-long-chain fatty acid (VLCFA), in the presence or absence of 1-5 mM aminotriazole (ATZ). A battery of lysosomal enzymes were assayed following treatment of dermal tissue with VLCFA or ATZ. RESULTS: Treatment of skin slices with lignoceric acid significantly increased (p < 0.001) the enzymic activities of acid lipase, acid phosphatase, alpha-glucosidase, alpha-galactosidase, N-acetyl-alpha-D-glucosaminidase (NAGA) and N-acetyl-alpha-D-galactosaminidase (NAGTA). ATZ (1-5 mM), an inhibitor of key peroxi somal enzyme catalase, also markedly increased the enzymic activities of acid phosphatase, alpha-glucosidase (23%) and alpha-galactosidase (18%) without any significant effect on NAGA or NAGTA. Western blot analysis further revealed that both VLCFA and ATZ significantly increased the protein expression of lysosomal enzymes, beta-galactosidase and beta-glucuronidase. CONCLUSION: Experimen tal dysfunction of peroxisomes mimicked by elevated VLCFA or ATZ-mediated catalase inhibition significantly increased the activities of lysosomal hydrolases in human dermal tissue, suggesting that activation of the lysosomal system could be one of the factors responsible for cellular damage during pathogenesis of peroxisomal diseases.

[Detection of Leishmania infantum MON-24 in the dog]. / Presence de Leishmania infantum MON-24 chez le chien.

Two forms of cutaneous leishmaniasis are endemic in Algeria. Zoonotic cutaneous leishmaniasis caused by Leishmania major is widespread in the steppe regions of the northern Sahara. Sporadic cutaneous leishmaniasis caused by Leishmania infantum occurs in the north along the coastline. The main causative agent for the sporadic form is Leishmania infantum zymodeme MON-24. It has been isolated from the sandfly vector Phlebotomus perfiliewi. However all attempts to isolate this variant from dogs, i.e., the main reservoir of Leishmania infantum, have failed. The authors report the first successful detection of Leishmania infantum MON-24 in the dog.

[Infantile visceral leishmaniasis caused by Leishmania infantum zymodeme MON-24 in Algeria]. / Leishmaniose viscérale infantile causée par Leishmania infantum zymodème MON-24 en Algérie.

In Algeria, visceral leishmaniasis is caused principally by Leishmania infantum MON-1, a common agent of the disease on the edges of the mediterranean basin. Other zymodemes (MON-34 and MON-80) of the same complex have also been isolated from immunologically competent patients. In the present study, the authors report the presence of Leishmania infantum MON-24, the main agent of cutaneous leishmaniasis in northern Algeria, in five children with visceral leishmaniasis.

Telehealth and communication technologies in health: summary and action plan.

INTRODUCTION: Rapid innovations and improvements in communication technologies have opened many new channels for health education and delivery, as well as disaster management. Theme 2 examined the role and applicability of these technologies to Disaster Medicine and Management and the various issues involved in their use. METHODS: Details of the methods used are provided in the introductory paper. The chairs moderated all presentations and produced a summary that was presented to an assembly of all of the delegates. The chairs then presided over a workshop that resulted in the generation of a set Action Plans that then were reported to the collective group of all delegates. RESULTS: Main points developed during the presentations and discussion included harnessing convergence, seeking interoperability, building partnerships and making it appropriate. This group identified four Principles of Action underlying its plan: (1) investigate possibilities, (2) identify stakeholders, (3) invite participation, and (4) involve discussants in activities. DISCUSSION: Action plans were categorized into three areas that included "thinking globally, acting regionally", forming a telehealth advisory group, and increasing corporate partnerships. CONCLUSIONS: Technology is opening many opportunities that have applications in disaster management. To optimize benefits, goals and standards must be agreed upon and implemented.

Spatial working memory in rats: no differences between the sexes.

In a number of mammalian species, males appear to have superior spatial abilities to females. The favoured explanations for this cognitive difference are hormonal, with higher testosterone levels in males than females leading to better spatial performance, and evolutionary, where sexual selection has favoured males with increased spatial abilities for either better navigational skills in hunting or to enable an increased territory size. However, an alternative explanation for this sex difference focuses on the role of varying levels of oestrogen in females in spatial cognition (the 'fertility and parental care' hypothesis). One possibility is that varying oestrogen levels result in variation in spatial learning and memory so that, when tested across the oestrous cycle, females perform as well as males on days of low oestrogen but more poorly on days of high oestrogen. If day in the oestrous cycle is not taken into account then, across an experiment, any sex differences found would always produce male superiority. We used a spatial working memory task in a Morris water maze to test the spatial learning and memory abilities of male and female rats. The rats were tested across a number of consecutive days during which the females went through four oestrous cycles. We found no overall sex differences in latencies to reach a submerged platform in a Morris water maze but, on the day of oestrus (low oestrogen), females took an extra swim to learn the platform's location (a 100% increase over the other days in the cycle). Female swim speed also varied across the oestrous cycle but females were no less active on the day of oestrus. These results oppose the predictions of the fertility and parental care hypothesis.

[Leishmaniasis diagnosis: role of a simple medium for the culture of Leishmania]. / Diagnostic des leishmanioses: intérêt d'un milieu simple pour la culture des leishmanies.

Leishmaniasis, Zoonoses or Anthroponoses, according to the focus, know an extension through the world and Algeria counts unfortunately more among countries who where touched. Parallelement to this extension the eco-epidemiology of leishmaniasis knex some important modifications and that. We can't surround theme if we don't dispose of a simple culture medium permeting the shoot of all species to leishmania.