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In vivo follow-up of muscle shape variation represents a challenge when evaluating muscle development due to disease or treatment. Recent developments in muscles reconstruction techniques indicate MRI as a clinical tool for the follow-up of the thigh muscles. The comparison of 3D muscles shape from two different sequences is not easy because there is no common frame. This study proposes an innovative method for the reconstruction of a reliable femoral frame based on the femoral head and both condyles centers. In order to robustify the definition of condylar spheres, an original method was developed to combine the estimation of diameters of both condyles from the lateral antero-posterior distance and the estimation of the spheres center from an optimization process. The influence of spacing between MR slices and of origin positions was studied. For all axes, the proposed method presented an angular error lower than 1° with spacing between slice of 10 mm and the optimal position of the origin was identified at 56 % of the distance between the femoral head center and the barycenter of both condyles. The high reliability of this method provides a robust frame for clinical follow-up based on MRI . [ABSTRACT FROM AUTHOR]

We test whether or not the orbital poles of the systems in the solar neighbourhood are isotropically distributed on the celestial sphere. The problem is plagued by the ambiguity on the position of the ascending node. Of the 95 systems closer than 18 pc from the Sun with an orbit in the 6th Catalogue of Orbits of Visual Binaries, the pole ambiguity could be resolved for 51 systems using radial velocity collected in the literature and CORAVEL database or acquired with the HERMES/Mercator spectrograph. For several systems, we can correct the erroneous nodes in the 6th Catalogue of Orbits and obtain new combined spectroscopic/astrometric orbits for seven systems [WDS 01083+5455Aa,Ab; 01418+4237AB; 02278+0426AB (SB2); 09006+4147AB (SB2); 16413+3136AB; 17121+4540AB; 18070+3034AB]. We used of spherical statistics to test for possible anisotropy. After ordering the binary systems by increasing distance from the Sun, we computed the false-alarm probability for subsamples of increasing sizes, from N = 1 up to the full sample of 51 systems. Rayleigh-Watson and Beran tests deliver a false-alarm probability of 0.5% for the 20 systems closer than 8.1 pc. To evaluate the robustness of this conclusion, we used a jackknife approach, for which we repeated this procedure after removing one system at a time from the full sample. The false-alarm probability was then found to vary between 1.5% and 0.1%, depending on which system is removed. The reality of the deviation from isotropy can thus not be assessed with certainty at this stage, because only so few systems are available, despite our efforts to increase the sample. However, when considering the full sample of 51 systems, the concentration of poles toward the Galactic position l = 46.0°, b = 37°, as observed in the 8.1 pc sphere, totally vanishes (the Rayleigh-Watson false-alarm probability then rises to 18%). [ABSTRACT FROM AUTHOR]

This paper serves as a reference on how to estimate the parameters of binary stars and how to combine multiple techniques, namely astrometry, interferometry and radial velocities. [ABSTRACT FROM AUTHOR]

Large-scale integrated quantum photonic technologies will require on-chip integration of identical photon sources with reconfigurable waveguide circuits. Relatively complex quantum circuits have been demonstrated already, but few studies acknowledge the pressing need to integrate photon sources and waveguide circuits together on-chip. A key step towards such large-scale quantum technologies is the integration of just two individual photon sources within a waveguide circuit, and the demonstration of high-visibility quantum interference between them. Here, we report a silicon-on-insulator device that combines two four-wave mixing sources in an interferometer with a reconfigurable phase shifter. We configured the device to create and manipulate two-colour (non-degenerate) or same-colour (degenerate) path-entangled or path-unentangled photon pairs. We observed up to 100.0 ± 0.4% visibility quantum interference on-chip, and up to 95 ± 4% off-chip. Our device removes the need for external photon sources, provides a path to increasing the complexity of quantum photonic circuits and is a first step towards fully integrated quantum technologies. [ABSTRACT FROM AUTHOR]

Integrated quantum photonic waveguide circuits are a promising approach to realizing future photonic quantum technologies. Here, we present an integrated photonic quantum technology platform utilizing the silicon-oninsulator material system, where quantum interference and the manipulation of quantum states of light are demonstrated in components orders of magnitude smaller than previous implementations. Two-photon quantum interference is presented in a multi-mode interference coupler, and the manipulation of entanglement is demonstrated in a Mach-Zehnder interferometer, opening the way to an all-silicon photonic quantum technology platform. [ABSTRACT FROM AUTHOR]

Phase-referenced interferometric astrometry offers the possibility to look for exoplanets around bright stars. Instruments like PRIMA (Phase-Referenced Imaging and Micro-arcsecond Astrometry) will measure the astrometric wobble of a candidate star due to an exoplanet relative to a close-by 'calibrator' star, located within the instrument's observing field (1 arcmin in the PRIMA case). Stars with already known exoplanets will constitute the first targets for this technique, as it will provide a way to further specify the characteristics of the known exoplanets, such as the inclinations. The main requirement is to have a calibrator in the vicinity of the star. We provide here a list of calibrators for all stars with known exoplanets obtained using data mining and Virtual Observatory techniques. This list is available online and revised regularly. The calibrators are found from catalogues available at Centre de Données astronomiques de Strasbourg (CDS) using the SC software developed at Jean-Marie Mariotti Center (JMMC). In our test case, the calibrators are found within angular distance for approximately 50 per cent of the stars tested, and often closer. They are all faint objects from the Two Micron All Sky Survey (2MASS) with K magnitudes between 13 and 15. A list of the most promising targets is also given. [ABSTRACT FROM AUTHOR]

Abstract: This article focuses on six questions raised by genetic testing in human: (1) the use of genetic tests, (2) information given to relatives of patients affected with genetic disorders, (3) prenatal and preimplantatory diagnosis for late onset genetic diseases and the use of pangenomic tests in prenatal diagnosis, (4) direct-to-consumer genetic testing, (5) population screening in the age of genomic medicine and (6) incidental findings when genetic testing are used. [ABSTRACT FROM AUTHOR]

Abstract: Oculo-dento-digital dysplasia (ODDD) is an autosomal dominant disorder with complete penetrance and high intra- and interfamilial phenotypic variability. The key features in this syndrome are microphthalmia, enamel hypoplasia and syndactyly of the 4th–5th fingers. ODDD is caused by mutations in the connexin 43 gene (GJA1). We report here four patients from three families with GJA1 mutations, one of them diagnosed prenatally. The three mutations (c.52T > C/p.Ser18Pro, c.689_690delTA/p.Tyr230CysfsX6, c.442C > G/p.Arg148Gly) have been reported once before. Two patients had white matter hypersignal anomalies, associated in one case with mental retardation, but asymptomatic in the other one, an observation that leads us to discuss systematic neuroradiological imaging for ODDD. One case has optic atrophy, another has hypospadias. The patient carrying a truncating mutation of Cx43 did not have palmoplantar keratoderma, in contradiction with the previously suggested genotype–phenotype correlation between truncating mutation and skin involvement. [Copyright &y& Elsevier]

Abstract: This chapter focusses on the selection of a good calibrator for interferometric observations. A few software tools are available to help the astronomer in this task. We use as an example the SearchCal webservice that automates most of the process. [Copyright &y& Elsevier]

Specific language impairment (SLI), involving environmental as well as genetic factors, is a complex disorder affecting 5–10% of preschool-age children. This review summarizes current data regarding the genetic factors involved in SLI. Genetic factors were first implicated in SLI on the basis of twin studies and reports of familial cases. Furthermore, several studies have shown that the relative risk of SLI was higher for close relatives of affected individuals. Finally, a specific gene (FOXP2) has been identified on the long arm of chromosome 7 in a family affected with SLI, and several regions of the genome, i.e. 7q31, 16q and 19q, have been found to be strongly linked to SLI. [Copyright &y& Elsevier]

We present relative astrometric and photometric measurements of visual double stars made in 2013–2015, with PISCO2 installed at the 76‐cm refractor of Côte d'Azur Observatory in Nice (France). Our observing list contains orbital couples as well as double stars whose motion is still uncertain. Most of the observations were done in 2015, but some other observations of wide couples were done in 2013–2014 (0.3% of the total of the observations). Three different techniques were used for obtaining measurements: lucky imaging, speckle interferometry and the direct vector autocorrelation method. From our observations of 2837 multiple stars, we obtained 5182 new measurements with angular separations in the range of 0″$$ {}^{{\prime\prime} } $$.1–32″$$ {}^{{\prime\prime} } $$ and an average accuracy of 0″.018$$ {0}^{{\prime\prime} }.018 $$. The mean error on the position angles is 0°.8. Most of the position angles were determined without the usual 180° ambiguity with the application of the direct vector autocorrelation technique and/or by inspection of the Lucky images or the long integration files. We managed to routinely monitor faint systems (mV≈9−11$$ {m}_V\approx 9-11 $$) with large magnitude difference (up to ΔmV≈4.5$$ \Delta {m}_V\approx 4.5 $$). We have thus been able to measure 21 systems containing red dwarf stars that had been poorly monitored since their discovery, from which we estimated the stellar masses thanks to Gaia measurements. We also measured the magnitude difference of the two components of 1079 double stars with an estimated error of 0.2 mag. Except for a few objects that are discussed, our measurements are in good agreement with the ephemerides computed with published orbital elements, even for the double stars whose separation is smaller than the diffraction limit. Thanks to good seeing images and with the use of high‐contrast numerical filters, we have also been able to obtain 196 measurements with an angular separation smaller than the diffraction limit of our instrumentation, and consistent with those obtained with larger telescopes. We also report measurements of the 164 new double stars that we found in the files obtained during the observations. Finally, from a study of the DR3 Gaia release, it is shown that all the objects of the Tycho Double Star Catalog that we did not resolve in 2015 are probably false detections by Tycho. [ABSTRACT FROM AUTHOR]

An abstract of the article "A framework towards personalisation and active muscle integration in a 3D finite-element neck model for orthopaedic applications," by S. Howley, D. Bonneau, and B. Fréchède is presented.

Behr syndrome is an early-onset and severe syndromic optic atrophy which is probably heterogeneous. Recently, a heterozygous mutation in OPA1 was reported in an adult-onset Behr-like syndrome. Heterozygous mutations in OPA1 are the main causes of autosomal dominant optic atrophy ( DOA). As many as 20% of patients with DOA exhibit extra-ocular signs including deafness, external ophthalmoplegia, ataxia, peripheral neuropathy and, myopathy. Aside from these autosomal dominant forms, only few syndromic cases have so far been linked to compound heterozygous OPA1 mutations suggestive of either recessive or semi-dominant inheritance. However, the clinical spectrum of these emerging double-mutant OPA1-related disorders remains to be characterized. We report on four children affected with Behr syndrome associated with compound heterozygous OPA1 mutations. These children were similarly affected with an early-onset neurological syndrome associating a severe optic atrophy (4/4), cerebellar ataxia (4/4), peripheral neuropathy (4/4), digestive involvement (2/4) and deafness (1/4). This report confirms the importance of searching an OPA1 compound heterozygosity in paediatric cases of syndromic optic neuropathy. [ABSTRACT FROM AUTHOR]

The evaluation of muscle and joint forcesin vivois still a challenge. Musculo-Skeletal (musculo-skeletal) models are used to compute forces based on movement analysis. Most of them are built from a scaled-generic model based on cadaver measurements, which provides a low level of personalization, or from Magnetic Resonance Images, which provide a personalized model in lying position. This study proposed an original two steps method to access a subject-specific musculo-skeletal model in 30 min, which is based solely on biplanar X-Rays. First, the subject-specific 3D geometry of bones and skin envelopes were reconstructed from biplanar X-Rays radiography. Then, 2200 corresponding control points were identified between a reference model and the subject-specific X-Rays model. Finally, the shape of 21 lower limb muscles was estimated using a non-linear transformation between the control points in order to fit the muscle shape of the reference model to the X-Rays model. Twelfth musculo-skeletal models were reconstructed and compared to their reference. The muscle volume was not accurately estimated with a standard deviation (SD) ranging from 10 to 68%. However, this method provided an accurate estimation the muscle line of action with a SD of the length difference lower than 2% and a positioning error lower than 20 mm. The moment arm was also well estimated with SD lower than 15% for most muscle, which was significantly better than scaled-generic model for most muscle. This method open the way to a quick modeling method for gait analysis based on biplanar radiography. [ABSTRACT FROM PUBLISHER]

Purpose The OPA1 gene, encoding a dynamin‐like mitochondrial GTPase, is responsible for autosomal dominant optic atrophy (ADOA, OMIM #165500), which can be associated with extra‐ocular abnormalities including sensorineural deafness.The purpose of this study is to determine, in a large series of patients carrying OPA1 mutations, the prevalence of the R445H mutation and of rarer OPA1 mutations in patients with ADOD and to describe the phenotype associated with these rarer mutations. Methods We retrospectively reviewed the files of all the OPA 1 patients with documented deafness diagnosed in our laboratory between 2003 and 2011. Results In our series, deafness occurred in 6.4% of OPA1 patients. Hearing loss occurred as the first sign of the disease in one third of the patients, prior to visual loss. In addition to the most common mutation responsible for ADOA and deafness (R445H), we report 6 additional mutations responsible for this association. Conclusion Deafness can be associated with dominant optic atrophy, due to OPA1 mutations, other than the classical R445H mutation. Unexplained sensorineuronal hearing loss can even be the first event and its association to optic atrophy and should prompt molecular genetic analysis, which can lead to an appropriate diagnosis. [ABSTRACT FROM AUTHOR]

Deals with a study which presented a three dimensional personalized imaging system for the trunk musculature of patients. Materials and methods; Preliminary results; Discussion and conclusion.

Alazami AM, Schneider SA, Bonneau D, Pasquier L, Carecchio M, Kojovic M, Steindl K, de Kerdanet M, Nezarati MM, Bhatia KP, Degos B, Goh E, Alkuraya FS. C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients. Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder that encompasses hypogonadism, deafness, alopecia, mental retardation, diabetes mellitus and progressive extrapyramidal defects. The syndrome is caused by mutation of the C2orf37 gene. Here we studied a cohort of seven new cases from three ethnic backgrounds, presenting with the hallmarks of WSS, in an effort to extend the mutational spectrum of this disorder. Genetic analysis revealed a novel mutation in each of the four families investigated, of which three were nonsense mutations and the fourth was a splice site ablation. We also examined a separate collection of 11 cases presenting with deafness and dystonia, two constituents of WSS, but found no pathogenic changes. This study doubles the number of known mutations for this disorder, confirms that truncating mutations in C2orf37 are the only known cause of WSS, and suggests that mutations in this gene do not contribute significantly to cases presenting with isolated elements of WSS such as deafness and dystonia. The lack of correlation between clinically expressivity of WSS and the site of the eight truncating mutations strongly supports that they are equally null, while the intrafamilial variability argues for an important role of modifiers in this disease. [ABSTRACT FROM AUTHOR]

Abstract: The numerical simulation of comparative elastohydrodynamic lubrication between axisymmetrical and 3D elastic approaches on the radial lip seals is presented in order to determine the 3D effect of the elastic aspect of the seal lip. Indeed, the consideration of 3D model in other words the circumferential variation of the lip elastic deformation indicated a difference in the deformation distribution of the lip compared to the axisymmetrical approach. Consequently, the results show that the presence of the circumferential variation of the seal lip deformation has a significant effect on the pumping rate values. [Copyright &y& Elsevier]

Cardiac hamartomas are frequently the earliest revelation of Bourneville''s tuberous sclerosis. They sometimes allow to consider the diagnosis during the antenatal period, and to plan therefore genetic and CNS investigations. After the neonatal period, the evolution of hamartomas is frequently favourable, characterised with at least partial involution.Observation – Antenatal equivocal cardiac echographic images did not allow the diagnosis in a fetus whose father had Bourneville''s disease. Other antenatal investigations (genetics, central nervous system MRI) were not helpful. The diagnosis was carried out at birth as cardiac ultrasound reliably showed two cardiac hamartomas.Conclusion – Even when suspected, the antenatal diagnosis of Bourneville''s disease is difficult. The presence of cardiac hamartomas at birth is a reliable mean to make the diagnosis. [Copyright &y& Elsevier]

Cowden’s disease is an autosomal dominantly inherited syndrome characterized by mucocutaneous lesions and multiple hamartomas. We report here a 12 years-old boy case with craniomegaly, intestinal polyps, epilepsy and multiadenomatous goiter. All the lesions were begnins. The predisposing genetic defect has been assignated to chromosomal 10 (PTEN-gene mutation). A long term follow-up is necessary because of the risk of malignancies. [Copyright &y& Elsevier]

The article presents a study on the reliability of a femoral frame based on images from magnetic resonance imaging (MRI). It mentions the aim of such method in defining and evaluating the said dependability towards locating the upper and lower slice of muscles in an MRI sequence. It also notes that the imaging technique along with computed tomography (CT) scans are considered the gold standard for assessing muscle shape.

The article analyzes the muscular system of the cervical spine may counterbalance loads due to gravity, at rest and in standing position. Model simulation provided muscular pattern (forces and activations) and loads within the C4-C5 joint after regulation. Muscles patterns and regulated loads within intervertebral joints can be computed by the model at each level. The model provided small values of muscles patterns and loads within intervertebral joints.

Objectifs Evaluer la place du médecin généraliste (MG) dans la prise en charge des maladies rares (MR) Matériels et méthodes Etude par questionnaire en ligne, adressé en juin 2013 à 524 médecins généralistes du 49 via le département de FMC de la Faculté d’Angers, analysé dans EpiData avec EpiAnalysis. Résultats 114 médecins ont répondu (21,8%), dont 63% d’hommes. L’âge moyen est de 47 ans, la patientèle moyenne de 979. Seuls 10% connaissent la définition d’une MR et 15% l’existence d’un plan national MR, 63% savent qu’il y a des centres de référence (CR) nationaux et 39% des centres de compétences (CC) régionaux, 25% connaissent ceux du CHU d’Angers ; 82% ont suivi des patients avec MR, 36% ont participé à des diagnostics, 83% disent qu’ils ont un rôle de coordination dans la prise en charge au long cours de leurs patients, dont ils pensent que les 2/3 sont suivis à l’hôpital, en CR ou hors CR ou CC. Les 2/3 ont des patients qui ont un dossier à la MDPH, dans 1/2 cas pour un handicap moteur. La plupart n’ont pas eu de formation sur les MR (en faculté ou en formation continue), 69% sont demandeurs. Ils s’informent pour 67% sur Orphanet, 57% dans les revues médicales et 25% sur Wikipedia. Conclusion les MG se sentent concernés par les MR et sont demandeurs de formation [ABSTRACT FROM AUTHOR]

We demonstrate a client-server quantum key distribution (QKD) scheme. Large resources such as laser and detectors are situated at the server side, which is accessible via telecom fiber to a client requiring only an on-chip polarization rotator, which may be integrated into a handheld device. The detrimental effects of unstable fiber birefringence are overcome by employing the reference-frame-independent QKD protocol for polarization qubits in polarization maintaining fiber, where standard QKD protocols fail, as we show for comparison. This opens the way for quantum enhanced secure communications between companies and members of the general public equipped with handheld mobile devices, via telecom-fiber tethering. [ABSTRACT FROM AUTHOR]

Accurate estimation of joint loads implies using subject-specific musculoskeletal models. Moreover, as the lines of action of the muscles are dictated by the soft tissues, which are in turn influenced by gravitational forces, we developed a method to build subject-specific models of the lower limb in a functional standing position. Bones and skin envelope were obtained in a standing position, whereas muscles and a set of bony landmarks were obtained from conventional magnetic resonance images in a lying position. These muscles were merged with the subject-specific skeletal model using a nonlinear transformation, taking into account soft tissue movements and gravitational effects. Seven asymptomatic lower limbs were modelled using this method, and results showed realistic deformations. Comparing the subject-specific skeletal model to a scaled reference model rendered differences in terms of muscle length up to 4% and in terms of moment arm for adductor muscles up to 30%. These preliminary findings enlightened the importance of subject-specific modelling in a functional position. [ABSTRACT FROM AUTHOR]

Objective: To report four foetal cases of the Binder phenotype associated with maternal autoimmune disorders. Patients and Methods: In three mothers with autoimmune diseases, 2D and 3D ultrasonographic measurements were made on four foetuses with the Binder profile, and were compared with postnatal phenotypes. Results: The Binder phenotype can be detected in early pregnancy (14.5 WG). All foetuses had verticalized nasal bones and midfacial hypoplasia. Punctuate calcifications were found in almost all the cases. No specific maternal auto-antibody has been associated with foetal Binder phenotype. Conclusion: Since the Binder phenotype can be diagnosed at ultrasound examination during pregnancy, it is important to establish the underlying cause so as to assess the foetal prognosis. This study stresses the importance of systematic checks for maternal autoimmune disease in cases of prenatally diagnosed Binder phenotypes. [ABSTRACT FROM AUTHOR]

Background Pseudoxanthoma elasticum (PXE) affects the skin, retina and cardiovascular system. Most cases are related to mutations in the ABCC6 gene. The diagnosis is most often made late in the second or third decade of life. Objectives To describe the manifestations of PXE before the age of 15 years. Methods Children under age 15 years with definite PXE were evaluated at a PXE referral centre, as were adult patients in whom serious manifestations of PXE had occurred before the age of 15 years. Results Our series included 96 patients; 15 (16%) had paediatric onset of the disease. Nine children were diagnosed at a mean age of 10 years, a mean of 2·5 years after the presenting symptoms. Cutaneous lesions were the presenting symptoms in eight. None had cardiovascular or ophthalmological symptoms. Six adult patients had had severe cutaneous and/or cardiovascular manifestations before the age of 15 years. Both adult patients with early extensive skin lesions had the PXE-like condition related to the GGCX gene. No ocular symptoms were recorded during childhood. Conclusions Cutaneous manifestations of PXE are the same in children as in young adults. Absence of complications is common in childhood, but severe complications are unpredictable. The frequency of complications was retrospectively estimated to be 7% in the adults of our series, although this figure was probably an overestimate because of the recruitment bias in a referral centre. It is, however, important to consider PXE in the paediatric setting, as early diagnosis may be important to provide accurate information and discuss lifestyle adjustments in order to improve the prognosis of the disease. [ABSTRACT FROM AUTHOR]

Patient-specific muscle geometry is not only an interesting clinical tool to evaluate different pathologies and treatments, but also provides an essential input data to more realistic musculoskeletal models. The protocol set up in our study provided the 3D-patient-specific geometry of the 13 main muscles involved in the knee joint motion from a few selected magnetic resonance images (MRIs). The contours of the muscles were identified on five to seven MRI axial slices. A parametric-specific object was then constructed for each muscle and deformed to fit those contours. The 13 muscles were obtained within 1 h, with less than 5% volume error and 5 mm point-surface error (2RMS). From this geometry, muscle volumes and volumic fractions of asymptomatic and anterior cruciate ligament deficient subjects could easily be computed and compared to previous studies. This protocol provides an interesting precision/time trade-off to obtain patient-specific muscular geometry. [ABSTRACT FROM AUTHOR]

This study assessed the prognostic value of several markers involved in gliomagenesis, and compared it with that of other clinical and imaging markers already used. Four-hundred and sixteen adult patients with newly diagnosed glioma were included over a 3-year period and tumour suppressor genes, oncogenes, MGMT and hTERT expressions, losses of heterozygosity, as well as relevant clinical and imaging information were recorded. This prospective study was based on all adult gliomas. Analyses were performed on patient groups selected according to World Health Organization histoprognostic criteria and on the entire cohort. The endpoint was overall survival, estimated by the Kaplan-Meier method. Univariate analysis was followed by multivariate analysis according to a Cox model. p14(ARF), p16(INK4A) and PTEN expressions, and 10p 10q23, 10q26 and 13q LOH for the entire cohort, hTERT expression for high-grade tumours, EGFR for glioblastomas, 10q26 LOH for grade III tumours and anaplastic oligodendrogliomas were found to be correlated with overall survival on univariate analysis and age and grade on multivariate analysis only. This study confirms the prognostic value of several markers. However, the scattering of the values explained by tumour heterogeneity prevents their use in individual decision-making. [ABSTRACT FROM AUTHOR]

Three-dimensional mechanical modelling of muscles is essential for various biomechanical applications and clinical evaluation, but it requires a tedious manual processing of numerous images. A muscle reconstruction method is presented based on a reduced set of images to generate an approximate parametric object from basic dimensions of muscle contours. A regular volumic mesh is constructed based on this parametric object. The approximate object and the corresponding mesh are deformed to fit the exact muscles contours yielding patient-specific geometry. Evaluation was performed by comparison of geometry to that obtained by contouring all computed tomography (CT) slices, and by quantification of the mesh quality criteria. Muscle fatty infiltration was estimated using a threshold between fat and muscle. Volumic fat index (VFI) of a muscle was computed using first all the complete CT scan slices containing the muscle (VFIref) and a second time only the slices used for reconstruction (VFIrecons). Mean volume error estimation was 2.6% and hexahedron meshes fulfilled quality criteria. VFIrecons respect the individual variation of fat content. [ABSTRACT FROM AUTHOR]

Huntington disease (HD) is a neurodegenerative disorder due to an excessive number of CAG repeats in the IT15 gene on chromosome 4. Studies of cognitive function in asymptomatic gene carriers have yielded contradictory results. This study compared cognitive performance in 44 subjects with the HD mutation (group of carriers) who had no clinical signs of HD and 39 at-risk individuals without HD mutation (group of non-carriers). Neuropsychological evaluation focused on global cognitive efficiency, psychomotor speed, attentional, executive and memory functions. Significant differences, with lower performances in the group of gene carriers, were detected for some measures of psychomotor speed, attention and executive functioning (all P < 0.01). More differences between groups were observed for memory measures, in particular on the California Verbal Memory Test. Complementing these observations, cognitive scores were correlated with age in the group of gene carriers, but not in the group of non-carriers. This suggests that the cognitive changes precede the appearance of the motor and psychiatric symptoms in HD and that tests proved to be sensitive to early HD deficiencies are better suited than global cognitive efficiency scales to observe them. [ABSTRACT FROM AUTHOR]

The COL4A1 gene encodes the alpha1 chain of type IV collagen, a crucial component of nearly all basement membranes. Mutations in COL4A1 were first associated with cerebral microangiopathy and familial porencephaly. Recently, several authors have reported mutations in COL4A1 as a Mendelian cause of prenatal onset intracranial hemorrhage (ICH). We report two cases of prenatal ICH associated with cataract and suggest that COL4A1 mutation should be envisaged in fetuses with prenatal ICH, especially in the presence of lens abnormalities at ultrasound examination. [ABSTRACT FROM AUTHOR]

No abstract available Copyright © 2012 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We demonstrate photon-pair generation in a reverse proton exchanged waveguide fabricated on a periodically poled magnesium doped stoichiometric lithium tantalate substrate. Detected pairs are generated via a cascaded second order nonlinear process where a pump laser at wavelength of 1.55 μm is first doubled in frequency by second harmonic generation and subsequently downconverted around the same spectral region. Pairs are detected at a rate of 42/s with a coincidence to accidental ratio of 0.7. This cascaded pair generation process is similar to four-wave-mixing where two pump photons annihilate and create a correlated photon pair. [ABSTRACT FROM AUTHOR]

The purpose of this study was to examine executive functioning in patients with Huntington's disease using an arithmetic word-problem-solving task including eight solvable problems of increasing complexity and four aberrant problems. Ten patients with Huntington's disease and 12 normal control subjects matched by age and education were tested. Patients with Huntington's disease performed the solvable problems significantly worse than the normal control subjects, but there was no difference in performance between the two groups in inhibiting aberrant problems. These results suggest that early Huntington's disease patients exhibit a precocious impairment in their ability to plan the resolution of complex arithmetic word problems without deficit in their ability to eliminate aberrant problems. This dissociation of performance fits with what we have found in such patients using script-sequencing tasks (Allain et al., 2004) and with neuropsychological data obtained by Watkins et al. (2000). These results are consistent with what is known about the neuropathological progression of Huntington's disease in which neuronal loss progresses in a dorso-to-ventral direction and with what was shown in patients with circumscribed frontal lobe damage. In these patients, impairments in planning solvable word problems were more frequent when lesions were in the lateral prefrontal regions. [ABSTRACT FROM AUTHOR]

Septo-optic dysplasia (SOD; De Morsier syndrome) is a rare congenital disorder characterized by the absence of the septum pellucidum (SP), hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. We report on two fetuses with absence of the SP diagnosed by ultrasound examination at 29 and 30 gestational weeks. In the first case the diagnosis of SOD was suspected in utero and confirmed postnatally; to the best of our knowledge this is the first report of the prenatal diagnosis of SOD. In the second case absence of the SP appeared to be isolated and no visual or endocrine impairment were detected after birth. [ABSTRACT FROM AUTHOR]

The Johanson-Blizzard syndrome is a rare autosomal recessive syndrome. This syndrome includes congenital aplasia of the cutis, aplasia of the alae nasi, bilateral hearing loss, dental malformations and pancreatic insufficiency.Case report – We report a sporadic case male infant from nonconsanguineous parents. He presented aplasia of the cutis and high anorectal malformation, associated with exocrine pancreatic insufficiency. A colostomy was performed at birth and anorectal atresia was corrected surgically at two months. Exocrine pancreatic insufficiency required immediate enzyme supplementation. [Copyright &y& Elsevier]

An abstract of the article "In vivo cervical intervertebral disc characterisation by elastography," by C. Vergari and colleagues is presented.

Behr syndrome is a complex genetic disorder occurring in children. It associates optic nerve atrophy and spinocerebellar degeneration (ataxia, pyramidal signs), some patients also presenting with peripheral neuropathy. Transmission is generally autosomal recessive and in some cases is related to mutation in OPA1 , a gene encoding a dynamin-related GTPase. 4 children (age 3–14 y-o) with severe visual loss and balance impairment due to OPA1 gene mutations underwent electrodiagnostic (EDX) examination. They presented with early visual loss, mixed cerebellar and proprioceptive ataxia. Some also had pyramidal signs. Compound heterozygous OPA1 mutations were found in all cases. EDX examination demonstrated a severe sensory neuropathy with absent sensory potentials or dramatic decrease of the amplitude, in contrast with normal motor nerve conduction parameters and needle EMG. To date, compound heterozygosity for OPA1 has been proven in only three patients from two unrelated families and neuropathy was not specifically assessed. This is therefore the first report demonstrating the occurrence of severe sensory neuropathy in such cases. Peripheral neuropathy sometimes represents a useful help in the diagnosis of a neurological or metabolic disease occurring in children. The search for sensory neuropathy in children with optic atrophy can be helpful in orientating the genetic diagnosis. [ABSTRACT FROM AUTHOR]

Presents a letter to the editor regarding the case of a 40-year-old male presented with bilateral, rapid, painless visual loss.

Presents a letter to the editor about sporadic optic atrophy and messenger RNA.

Presents the results of a study on the in vivo investigation of the geometry of both external and internal dimensions of the human body. Selection criteria for the volunteers of the investigation; Use of a low dose system in the study; Data on the mean and standard deviation values of the anthropometrical measurements of the volunteers for each of the classes.