Les compléments neurophysiologiques du diagnostic

Neurophysiological complements of autism diagnosis Research presented show relationships between behavioral and cognitive disorders and underlying cerebral functional abnormalities, on the basis of non invasive electrophysiological investigations (electroencephalography, cortical evoked potentials). Three types of disturbances are studied: sleep problems, intolerance to change and atypical visual processing of human faces. The complementarity of clinical and neurophysiological approaches is crucial at the levels of functional diagnosis, therapeutic and educative interventions

Xq27 FRAXA locus is a strong candidate for dyslexia: evidence from a genome-wide scan in French families.

Dyslexia is a frequent neurodevelopmental learning disorder. To date, nine susceptibility loci have been identified, one of them being DYX9, located in Xq27. We performed the first French SNP linkage study followed by candidate gene investigation in dyslexia by studying 12 multiplex families (58 subjects) with at least two children affected, according to categorical restrictive criteria for phenotype definition. Significant results emerged on Xq27.3 within DYX9. The maximum multipoint LOD score reached 3,884 between rs12558359 and rs454992. Within this region, seven candidate genes were investigated for mutations in exonic sequences (CXORF1, CXORF51, SLITRK2, FMR1, FMR2, ASFMR1, FMR1NB), all having a role during brain development. We further looked for 50 UTR trinucleotide repeats in FMR1 and FMR2 genes. No mutation or polymorphism co-segregating with dyslexia was found. This finding in French families with Dyslexia showed significant linkage on Xq27.3 enclosing FRAXA, and consequently confirmed the DYX9 region as a robust susceptibility locus. We reduced the previously described interval from 6.8 (DXS1227–DXS8091) to 4 Mb also disclosing a higher LOD score

The hairy elbows syndrome: clinical and neuroradiological findings.

The hairy elbows syndrome (HES) is a rare congenital phenotype characterized by an abnormal increase in long hairs localized on the upper limbs extensor surfaces. This feature is often associated with short stature, facial asymmetry, dysmorphisms, intrauterine growth retardation (IUGR), and mental and speech delay. We report a case with hypertricosis cubiti associated with infantile spasms, behaviour disorders and cerebral hemisphere asymmetry. Although these findings have not been previously described we are uncertain whether they are unusual or underestimated. However, it is likely that these neurological findings are strongly interrelated leading to a more severe phenotype of the syndrome

Water demand management in Mediterranean regions

Water sustainability needs a balance between demand and availability: 1) Water demand management: demand may be managed by suppliers and regulations responsible persons, using measures like invoicing, consumptions measurement and users education in water conservation measures; 2) Augmentation of water supply: availibility may be augmented by infrastructural measures, waste water reuse, non-conventional resources and losses reduction. Water Demand Management is about achieving a reduction in the use of water resources, normally through increased efficiency of water application. The main objective of this paper is the application of these concepts to Mediterranean regions.

Medical conditions in autism spectrum disorders

Autism spectrum disorder (ASD) is a behaviourally defined syndrome where the etiology and pathophysiology is only partially understood. In a small proportion of children with the condition, a specific medical disorder is identified, but the causal significance in many instances is unclear. Currently, the medical conditions that are best established as probable causes of ASD include Fragile X syndrome, Tuberous Sclerosis and abnormalities of chromosome 15 involving the 15q11-13 region. Various other single gene mutations, genetic syndromes, chromosomal abnormalities and rare de novo copy number variants have been reported as being possibly implicated in etiology, as have several ante and post natal exposures and complications. However, in most instances the evidence base for an association with ASD is very limited and largely derives from case reports or findings from small, highly selected and uncontrolled case series. Not only therefore, is there uncertainty over whether the condition is associated, but the potential basis for the association is very poorly understood. In some cases the medical condition may be a consequence of autism or simply represent an associated feature deriving from an underlying shared etiology. Nevertheless, it is clear that in a growing proportion of individuals potentially causal medical conditions are being identified and clarification of their role in etio-pathogenesis is necessary. Indeed, investigations into the causal mechanisms underlying the association between conditions such as tuberous sclerosis, Fragile X and chromosome 15 abnormalities are beginning to cast light on the molecular and neurobiological pathways involved in the pathophysiology of ASD. It is evident therefore, that much can be learnt from the study of probably causal medical disorders as they represent simpler and more tractable model systems in which to investigate causal mechanisms. Recent advances in genetics, molecular and systems biology and neuroscience now mean that there are unparalleled opportunities to test causal hypotheses and gain fundamental insights into the nature of autism and its development

MRI Study of Minor Physical Anomaly in Childhood Autism Implicates Aberrant Neurodevelopment in Infancy

Background: MPAs (minor physical anomalies) frequently occur in neurodevelopmental disorders because both face and brain are derived from neuroectoderm in the first trimester. Conventionally, MPAs are measured by evaluation of external appearance. Using MRI can help overcome inherent observer bias, facilitate multi-centre data acquisition, and explore how MPAs relate to brain dysmorphology in the same individual. Optical MPAs exhibit a tightly synchronized trajectory through fetal, postnatal and adult life. As head size enlarges with age, inter-orbital distance increases, and is mostly completed before age 3 years. We hypothesized that optical MPAs might afford a retrospective 'window' to early neurodevelopment; specifically, inter-orbital distance increase may represent a biomarker for early brain dysmaturation in autism. Methods: We recruited 91 children aged 7-16; 36 with an autism spectrum disorder and 55 age- and gender-matched typically developing controls. All children had normal IQ. Inter-orbital distance was measured on T1-weighted MRI scans. This value was entered into a voxel-by-voxel linear regression analysis with grey matter segmented from a bimodal MRI data-set. Age and total brain tissue volume were entered as covariates. Results: Intra-class coefficient for measurement of the inter-orbital distance was 0.95. Inter-orbital distance was significantly increased in the autism group (p = 0.03, 2-tailed). The autism group showed a significant relationship between inter-orbital distance grey matter volume of bilateral amygdalae extending to the unci and inferior temporal poles. Conclusions: Greater inter-orbital distance in the autism group compared with healthy controls is consistent with infant head size expansion in autism. Inter-orbital distance positively correlated with volume of medial temporal lobe structures, suggesting a link to "social brain" dysmorphology in the autism group. We suggest these data support the role of optical MPAs as a "fossil record" of early aberrant neurodevelopment, and potential biomarker for brain dysmaturation in autism. © 2011 Cheung et al.published_or_final_versio

Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis

Patients with advanced variants of Systemic Mastocytosis may develop destructive bone lesions when massive mast cell (MC) infiltrates are present. Finding of large osteolyses in indolent systemic mastocytosis, typically characterized by low MC burden, should prompt investigations for an alternative explanation

Systemic mastocytosis: a rare cause of osteoporosis

A 61-year old female patient who was referred to the endocrine clinic for evaluation of an elevated alkaline phosphatase. She was originally referred to gastroenterology (GI), however no GI causes of elevated alkaline phosphatase was found. Upon fractionation, it was noted that she had elevation in bone specific alkaline phosphatase. Past history was significant for hypertension, atrial fibrillation and menopause 6 years ago. She was also noted to have multiple drug allergies manifesting as urticaria and flushing. Review of the past records revealed a persistently elevated alkaline phosphatase over the last two years. She had no history of falls or fractures. Computed tomography (CT) abdomen done to rule out biliary pathology, revealed osteosclerotic and osteolytic lesion in the pelvis concerning neoplastic disease. Bone marrow biopsy however, was negative for cancer but consistent with systemic mastocytosis (SM). Dual Energy X-ray absorbimetery (DEXA) scan revealed osteoporosis Serum tryptase levels were elevated; further genetic analysis showed a positive CKIT D816 mutation. She was started on bisphosphonates (initially alendronate and then ibandronate). Upon follow up at two years she had not experienced any fractures and her bone mineral density also had improved significantly

The Effect of surface topographical changes of two different surface treatments rotary instrument

One of the major innovations in endodontics has been the introduction of nickel-titanium (NiTi) alloy. This study evaluated the surface topographical changes of two different surface treatments rotary instrument after instrumentation and sterilization. 240 Extracted teeth were included in this study. 90 new AlphaKite and Revo-S NiTi rotary instruments were selected and divided into two groups (Group A 45 AlphaKite and group B 45 Revo-S). Each group were divided into three subgroups: (A1, B1) n=5 files were used as a control, (A2,B2) n=20 files were used to prepare three root canals using endodontic rotary motor then sterilized by autoclave for one cycle under 121°C at 15 psi for 30 minutes and (A3,B3) n=20 files were used to prepare nine root canals using the same rotary system then sterilized by autoclave for three cycles under 121°C at 15 psi for 30 minutes. Files were examined under scanning electron microscopy. On examining the AlphaKite, A1 revealed gross machining grooves on their surface with no pits, A2 showed disruption of cutting and A3 showed microcracks and deepening of the machining grooves. B1 showed a smoother surface with few machining grooves, B2 showed dulling and blunting of the cutting edges was predominant and B3 files showed plastic deformation in the form of unwinding of the flutes. The defects were less distributed along the electropolished Revo-S files than the physical vapor deposition AlphaKite

Electrochemical corrosion assessment of RaCe and Mtwo rotary nickle-titanium instruments after clinical use and sterilization

Aim: The aim of the present study was to electrochemically evaluate corrosion resistance of RaCe and Mtwo files after repeated sterilization and preparation procedures. Study Design: A total of 450 rotary files were used. In the working groups, 72 files from each file type were distributed into 4 groups. RaCe and Mtwo files were used to prepare one root canal of the mesial root of extracted human mandibular first molars. The procedure was repeated to prepare 2 to 8 canals. The following irrigation solutions were used: group 1, RaCe files with 2.5% NaOCl; group 2, RaCe files with normal saline; group 3, Mtwo files with 2.5% NaOCl; and group 4, Mtwo files with normal saline in the manner described. In autoclave groups, 72 files from each file type were evenly distributed into 2 groups. Files were used for a cycle of sterilization without the use of files for root canal preparation. Nine new unused files from each file type were used as controls. Then the instruments were sent for corrosion assessment. Mann-Whitney U and Wilcoxon tests were used for independent and dependent groups, respectively. Results: Statistical analysis indicated that there were significant differences in corrosion resistance of files associated with working and autoclave groups between RaCe and Mtwo file types (p<0.001). Conclusions: Corrosion resistance of #25, #30, and #35 Mtwo files is significantly higher than that in RaCe files with similar sizes. © Medicina Oral