A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient

Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Mutations in the CLCN7 gene are responsible not only for a substantial portion of ARO patients, but also for other forms of osteopetrosis characterized by different severity and inheritance. The lack of a clear genotype/phenotype correlation makes genetic counselling a tricky issue for CLCN7-dependent osteopetrosis. Here we characterize the first homozygous interstitial deletion in 16p13.3, detected by array Comparative Genomic Hybridization (a-CGH) in an ARO patient of Jordanian origin. The deletion involved other genes beside CLCN7, while the proband displayed a classic ARO phenotype; however her early death did not allow more extensive clinical investigations. The identification of this novel genomic deletion involving a large part of the CLCN7 gene is of clinical relevance, especially in prenatal diagnosis, and suggests the possibility that this kind of mutation has been underestimated so far. This data highlights the need for alternative approaches to genetic analysis also in other ARO-causative genes

Patterns of male-specific inter-population divergence in Europe, West Asia and North Africa

We typed 1801 males from 55 locations for the Y-specific binary markers YAP! DYZ3, SRY10831 and the (CA)n microsatellites YCAII and DYS413. Phylogenetic relationships of chromosomes with the same binary haplotype were condensed in seven large one-step networks! which accounted for 95% of all chromosomes. Their coalescence ages were estimated based on microsatellite diversity. The three largest and oldest networks undergo sharp frequency changes in three areas. The more recent network; 3.1A clearly discriminates between Western and Eastern European populations. Pairwise Pst showed an overall increment with increasing geographic distance but with a slope greatly reduced when compared to previous reports. BI sectioning the entire data set according to geographic and linguistic criteria, we found higher Fst-on-distance slopes within Europe than in West Asia or across the tno continents

First report of venereal and vertical transmission of canine leishmaniosis from naturally infected dogs in Germany

<p>Abstract</p> <p>Background</p> <p>Canine leishmaniosis (CanL) is a zoonotic disease caused by <it>Leishmania (L.) infantum</it>. It is endemic to several tropical and subtropical countries but also to the Mediterranean region. It is transmitted by phlebotomine sandflies but occasional non-vector transmissions have been reported, including vertical and horizontal transmission.</p> <p>Findings</p> <p>The authors report a case of CanL in a female boxer dog from Dusseldorf, Germany, that had never been in an endemic region. A serum sample from the bitch was tested positive for antibodies against <it>Leishmania </it>(IFAT 1:2,000, ELISA 72). The bitch had whelped three litters, and one puppy from the third litter was also found to be seropositive for <it>Leishmania </it>antibodies (IFAT 1:4,000, ELISA 78).</p> <p>Conclusions</p> <p>Up to now, despite intensive searching, the occurrence of sandflies could not be proved in the bitch's region of origin. Thus, vertical and horizontal transmission are to be discussed as possible ways of infection. This may be the first report of venereal and vertical transmission of <it>L. infantum </it>in naturally infected dogs in Germany.</p

Transplacental Transmission of Leishmania infantum as a Means for Continued Disease Incidence in North America

Dogs are a favored feeding source for sand flies that transmit human L. infantum infection. Zoonotic visceral leishmaniasis (ZVL) is an emerging problem in some U.S. dog breeds, with over 20% of at-risk Foxhounds infected. Although classically Leishmania is transmitted by infected sand flies which exist in the United States, no role has yet been determined for vector-borne transmission. Means of ongoing L. infantum transmission in U.S. dogs is unknown. Possibilities include transplacental and horizontal/venereal transmission. Aims for this study were to establish whether transplacental transmission occurred in Leishmania-infected U.S. dogs and determine the effect of this transmission on immune recognition of Leishmania. This novel report describes wide-spread infection as identified by kqPCR in 8 day-old pups born to a naturally-infected, seropositive U.S. dog with no travel history. This is the first report of transplacental transmission of L. infantum in naturally-infected dogs in North America. Evidence that mom-to-pup transmission of ZVL may continue disease in an otherwise non-endemic region has significant implications on current control strategies for ZVL. Determining frequency of vertical transmission and incorporating canine sterilization with vector control may have a more significant impact on ZVL transmission to people in endemic areas than current control efforts

LeishVet guidelines for the practical management of canine leishmaniosis

The LeishVet group has formed recommendations designed primarily to help the veterinary clinician in the management of canine leishmaniosis. The complexity of this zoonotic infection and the wide range of its clinical manifestations, from inapparent infection to severe disease, make the management of canine leishmaniosis challenging. The recommendations were constructed by combining a comprehensive review of evidence-based studies, extensive clinical experience and critical consensus opinion discussions. The guidelines presented here in a short version with graphical topic displays suggest standardized and rational approaches to the diagnosis, treatment, follow-up, control and prevention of canine leishmaniosis. A staging system that divides the disease into four stages is aimed at assisting the clinician in determining the appropriate therapy, forecasting prognosis, and implementing follow-up steps required for the management of the leishmaniosis patient

Evaluation of temperature increase during in-office bleaching

ABSTRACT The use of light sources in the bleaching process reduces the time required and promotes satisfactory results. However, these light sources can cause an increase in the pulp temperature. Objective The purpose of the present study was to measure the increase in intrapulpal temperature induced by different light-activated bleaching procedures with and without the use of a bleaching gel. Material and Methods A human maxillary central incisor was sectioned 2 mm below the cementoenamel junction. A K-type thermocouple probe was introduced into the pulp chamber. A 35% hydrogen peroxide bleaching gel was applied to the vestibular tooth surface. The light units used were a conventional halogen, a hybrid light (only LED and LED/Laser), a high intensity LED, and a green LED light. Temperature increase values were compared by two-way ANOVA and Tukey´s tests (p<0.05). Results There were statistically significant differences in temperature increases between the different light sources used and between the same light sources with and without the use of a bleaching gel. The presence of a bleaching gel generated an increase in intra-pulpal temperature in groups activated with halogen light, hybrid light, and high intensity LED. Compared to the other light sources, the conventional halogen lamp applied over the bleaching gel induced a significant increase in temperature (3.83±0.41°C). The green LED unit with and without gel application did not produce any significant intrapulpal temperature variations. Conclusion In the present study, the conventional halogen lamp caused the highest increase in intrapulpal temperature, and the green LED caused the least. There was an increase in temperature with all lights tested and the maximum temperature remained below the critical level (5.5°C). The addition of a bleaching gel led to a higher increase in intrapulpal temperatures