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Aerosol particles in coastal areas result from a complex mixing between sea-spray aerosols locally generated at the sea surface by breaking waves and a continental component issued from natural and/or anthropogenic sources. The aim of this paper is to study how the aerosols mix in the coastal marine atmosphere to evaluate the impact of the background pollution on the atmospheric aerosols. To this end, we have carried out a qualitative analysis of particulate matter sampled at two French coastal areas using a non-destructive methodology combining scanning electron microscopy (SEM)/X-ray fluorescence, transmission electron microscopy (TEM), X-ray diffraction, and Raman spectroscopy. Our analysis shows a dominant contribution of anthropogenic aerosols through strong levels of submicronic carbon soot and sulfate particles, even observed when the aerosol is sampled during pure maritime-air mass episodes. Our results also evidence the non-mixing between sea-spray, mainly composed of coarse aerosol particles, and this anthropogenic particulate matter of smaller sizes. [ABSTRACT FROM AUTHOR]

• Laser cleaning of soiled artworks induces an undesirable yellowing phenomenon. • Model systems mimicking the phenomenon were studied by surface sensitive techniques. • The formation of oxidized hydrocarbon compounds is substantiated. • The neo-formed compounds derive from the laser annealing of carbon black particles. • Their formation is inevitable, but UV-B allows a progressive mitigation. The removal of black crusts decaying the surface of artworks is an important concern for the conservation of cultural heritage. Nd:YAG laser cleaning of encrusted stones and plasters at 1064 nm is widely recognized as an effective restoration technique, but induces a noticeable yellowing of the treated surface. Several researches carried out on the effects of laser cleaning have been focused on the induced yellowing and how to visually mitigate this phenomenon. To this end, UV-B radiations were successfully used to lessen the laser-induced yellowing due to the removal of lamp black particles on gypsum. The mechanism at play for both the formation of the compounds yellowing the surface and their disappearance upon UV-B exposure remains, however, poorly understood. Within the frame of this research, we apply surface-sensitive characterization techniques to analyze the yellowed surface produced after Nd:YAG Q-Switched laser cleaning of lamp black deposit on a gypsum plate, and the same surface after UV-B exposure. A combination of X-ray photoelectron spectroscopy and Fourier-transformed infrared spectroscopy has been used to identify the residual carbon compounds responsible for the yellow coloration of the substrate. A nanoscale structural description of the ejected particles collected during the laser cleaning was finally performed with transmission electron microscopy. We found that the yellowing is due to partially oxidized hydrocarbons compounds deposited at the surface of the gypsum substrate. We propose that they form by reactions between carbon species emitted by the vaporization of the carbon particles, with hydrogen and oxygen produced by the dissociation of water molecules coming together from dehydration of the gypsum surface and from the water sprayed by the operator during cleaning. [ABSTRACT FROM AUTHOR]

Abstract: Background: Newborn screening (NBS) for cystic fibrosis (CF) can lead to the detection of healthy carriers. We report a unique assessment of family testing following the identification of carriers by NBS for over 20years, in an area where CF is frequent. Methods: We reviewed all of the carriers identified by NBS between 1991 and 2010 and registered the tests done in those families. Results: NBS identified 0.1% of the newborns as carriers, which correspond only to 2.6% of the expected carriers born within the period, and 1/3 of those with an increased IRT level. Of the 195 families, 75.9% requested testing (2.5 tests per family). We identified 183 carriers and five 1-in-4 risk couples. Reassurance about genetic status was provided to 96% of the couples. Conclusions: Carriers detected by NBS appeared to be well managed in our area, and cascade testing that informs on genetic status seems relatively active. [Copyright &y& Elsevier]

• Fire soot samples were produced from different fuels with variable operating conditions. • Samples were characterized in terms of oxygen content, BET surface area and primary particle diameter. • Water sorption isotherms were obtained on all samples. • A second Dubinin-Serpinsky model with a unique set of parameters properly fit all the experimental isotherms. Soot samples from different fuels were produced in small and pilot combustion test benches at various O 2 concentrations, and were then characterized in terms of primary particle diameter, specific surface area and oxygen content/speciation. Water sorption measurements were then carried out for soot compacted into pellet form and in powder form, using both a gravimetric microbalance and a manometric analyser. Water adsorption isotherms are all found to be Type V, and reveal the central role of the specific surface area and the oxygen content of soot. A single parametrization of the second Dubinin-Serpinsky model gives a proper fit for all isotherms. To the best of our knowledge, this is the first study to provide physico-chemical parameters and water sorption results for fire soot. This enables a better description of the soot cake formed on filters during a fire, in particular in industrial confined facilities as simulated in this study. Humidity can be then explicitly considered in the same way as other parameters influencing the aeraulic resistance of soot cakes. These results can be used to improve predictions of the consequences of fires on the containment of toxic materials within industrial facilities. [ABSTRACT FROM AUTHOR]

Transmission electron microscopy (TEM), X-ray photoelectron spectroscopy (XPS), near-edge X-ray absorption fine structure (NEXAFS) and Fourier-transform infrared spectroscopy (FTIR) have been used to compare the nanoscale characteristics of aircraft soot collected at the exhaust of a recent PowerJet SaM146 jet engine, with those of soot generated by a MiniCAST burner. Analyses show that some MiniCAST operating conditions enable generating soot particles of morphology, internal nano-structure and chemical structure close to those of aircraft soot. However, MiniCAST soot have gyration diameters systematically larger compared to aircraft soot. Provided that this imperfect agreement is not critical for the studied properties, MiniCAST soot might be used as a relevant analogue of aircraft soot for studying some of their physical or chemical properties, offering a convenient and affordable way to conduct laboratory studies on the environmental impacts of aviation emitted particles. [ABSTRACT FROM AUTHOR]

Background: Inherited cardiac conduction disease is a rare bradyarrhythmia associated with mutations in various genes that affect action potential propagation. It is often characterized by isolated conduction disturbance of the His-Purkinje system, but it is rarely described as a syndromic form.Objectives: The authors sought to identify the genetic defect in families with a novel bradyarrhythmia syndrome associated with bone malformation.Methods: The authors genetically screened 15 European cases with genotype-negative de novo atrioventricular (AV) block and their parents by trio whole-exome sequencing, plus 31 Japanese cases with genotype-negative familial AV block or sick sinus syndrome by targeted exon sequencing of 457 susceptibility genes. Functional consequences of the mutation were evaluated using an in vitro cell expression system and in vivo knockout mice.Results: The authors identified a connexin-45 (Cx45) mutation (p.R75H) in 2 unrelated families (a de novo French case and a 3-generation Japanese family) who presented with progressive AV block, which resulted in atrial standstill without ventricular conduction abnormalities. Affected individuals shared a common extracardiac phenotype: a brachyfacial pattern, finger deformity, and dental dysplasia. Mutant Cx45 expressed in Neuro-2a cells showed normal hemichannel assembly and plaque formation. However, Lucifer yellow dye transfer and gap junction conductance between cell pairs were severely impaired, which suggested that mutant Cx45 impedes gap junction communication in a dominant-negative manner. Tamoxifen-induced, cardiac-specific Cx45 knockout mice showed sinus node dysfunction and atrial arrhythmia, recapitulating the intra-atrial disturbance.Conclusions: Altogether, the authors showed that Cx45 mutant p.R75H is responsible for a novel disease entity of progressive atrial conduction system defects associated with craniofacial and dentodigital malformation. [ABSTRACT FROM AUTHOR]

Background Cascade carrier testing within cystic fibrosis (CF) affected families offers relatives of CF patients the opportunity to know their status regarding the mutation that segregates within their family, and thus to make informed reproductive choices. As an Australian study has recently shown that this test seemed underused, we searched to assess uptake of this test in a European area where CF is common, and to report its public health implications. Methods This study relied on 40 CF-affected families from western Brittany, France. Investigations included drawing of family trees and registration of carrier tests performed in those families. Results Of the 459 relatives eligible for testing, 185 were tested, leading to an adjusted uptake rate of testing of 40.7% (95% CI: [34.1%; 47.3%]). The main predictors for having testing were being female (p = 0.031) and having a high prior risk (p < 0.001). Planning a pregnancy or expecting a child (reported in at least 38.4% of tested relatives) also appeared critical in choosing to be tested. Overall, carrier testing allowed to reassure more than 1/4 of the relatives and to detect five new 1-in-4 at-risk couples who then requested prenatal diagnosis. Conclusions This observational study assesses, for first time in Europe, uptake of CF cascade carrier testing within CF families, which is a critical tool to reassure non-carriers and to detect early new at-risk couples. [ABSTRACT FROM AUTHOR]

Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by sequencing the ALPL gene by Sanger methodology. Osteogenesis imperfecta (OI) and campomelic dysplasia (CD) are the main differential diagnoses of severe HPP, so that in case of negative result for ALPL mutations, OI and CD genes had often to be analyzed, lengthening the time before diagnosis. We report here our 18-month experience in testing 46 patients for HPP and differential diagnosis by targeted NGS and show that this strategy is efficient and useful. We used an array including ALPL gene, genes of differential diagnosis COL1A1 and COL1A2 that represent 90% of OI cases, SOX9 , responsible for CD, and 8 potentially modifier genes of HPP. Seventeen patients were found to carry a mutation in one of these genes. Among them, only 10 out of 15 cases referred for HPP carried a mutation in ALPL and 5 carried a mutation in COL1A1 or COL1A2 . Interestingly, three of these patients were adults with fractures and/or low BMD. Our results indicate that HPP and OI may be easily misdiagnosed in the prenatal stage but also in adults with mild symptoms for these diseases. [ABSTRACT FROM AUTHOR]

A p-NiO / i-Sb 2 S 3 semiconductor junction is created as an array of parallel, coaxially structured, hollow nanocylinders. The preparation bases on two consecutive steps of atomic layer deposition (ALD) onto the pore walls of anodic alumina, used as an inert template. ALD allows for the conformal coating of the deep pores. Characterization by x-ray photoelectron spectroscopy, x-ray diffraction, and transmission electron microscopy demonstrates the high purity, perfect stoichiometry, and nanocrystalline structure of both layers. Annealing the samples increases the crystallite size but disrupts the continuity of the Sb 2 S 3 film. Electrochemical and photoelectrochemical curves evidence the injection of holes from the light absorber Sb 2 S 3 into the p-type NiO, but no significant photoinduced cathodic electron transfer to the electrolyte. [ABSTRACT FROM AUTHOR]

Heterogeneous nitrate photolysisis the trigger for many chemical processes occurring in the polarboundary layer and is widely believed to occur in a quasi-liquid layer(QLL) at the surface of ice. The dipole-forbidden character of theelectronic transition relevant to boundary layer atmospheric chemistryand the small photolysis/photoproduct yields in ice (and in water)may confer a significant enhancement and interfacial specificity tothis important photochemical reaction at the surface of ice. Usingamorphous solid water films at cryogenic temperatures as models forthe disordered interstitial air–ice interface within the snowpacksuppresses the diffusive uptake kinetics, thereby prolonging the residencetime of nitrate anions at the surface of ice. This approach allowstheir slow heterogeneous photolysis kinetics to be studied, providingthe first direct evidence that nitrates adsorbed onto the first molecularlayer at the surface of ice are photolyzed more effectively than thosedissolved within the bulk. Vibrational spectroscopy allows the ∼3-foldenhancement in photolysis rates to be correlated with the nitrates’distorted intramolecular geometry, thereby hinting at the role playedby the greater chemical heterogeneity in their solvation environmentat the surface of ice than that in the bulk. A simple 1D kinetic modelsuggests (1) that a 3(6)-fold enhancement in photolysis rate for nitratesadsorbed onto the ice surface could increase the photochemical NO2emissions from a 5(8) nm thick photochemically active interfaciallayer by 30(60)%, and (2) that 25(40)% of the NO2photochemicalemissions to the snowpack interstitial air are released from the topmostmolecularly thin surface layer on ice. These findings may providea new paradigm for heterogeneous (photo)chemistry at temperaturesbelow those required for a QLL to form at the ice surface. [ABSTRACT FROM AUTHOR]

Background Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder. Methods A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing. Results Seventeen patients were molecularly diagnosed in the course of this study and five of these represent new mutations never reported before. Among patients displaying neurological symptoms and/or cognitive/behavioral abnormalities, we identified brain structural anomalies in 88.7%, cognitive impairment in 68%, and associated neurological disorders and signs in 53% of cases. The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations. Conclusions Our results support recent published findings indicating that CNS involvement in this condition is found in more than 60% of cases. Our findings correlate well with the kind of brain developmental anomalies described in other ciliopathies. Interestingly, we also described specific neuropsychological aspects such as reduced ability in processing verbal information, slow thought process, difficulties in attention and concentration, and notably, long-term memory deficits which may indicate a specific role of OFD1 and/or primary cilia in higher brain functions. [ABSTRACT FROM AUTHOR]

The molecular basis underlying the clinical variability in symptomatic Duchenne muscular dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic DMD carriers followed in the French neuromuscular network. Clinical presentation, muscular histological analysis and type of gene mutation, as well as X-chromosome inactivation (XCI) patterns using DNA extracted from peripheral blood or muscle are detailed. The initial symptoms were significant weakness (88%) or exercise intolerance (27%). Clinical severity varied from a Duchenne-like progression to a very mild Becker-like phenotype. Cardiac dysfunction was present in 19% of the cases. Cognitive impairment was worthy of notice, as 27% of the carriers are concerned. The muscular analysis was always contributive, revealing muscular dystrophy (83%), mosaic in immunostaining (81%) and dystrophin abnormalities in western blot analysis (84%). In all, 73% had exonic deletions or duplications and 27% had point mutations. XCI pattern was biased in 62% of the cases. In conclusion, we report the largest series of manifesting DMD carriers at pediatric age and show that exercise intolerance and cognitive impairment may reveal symptomatic DMD carriers. The complete histological and immunohistological study of the muscle is the key of the diagnosis leading to the dystrophin gene analysis. Our study shows also that cognitive impairment in symptomatic DMD carriers is associated with mutations in the distal part of the DMD gene. XCI study does not fully explain the mechanisms as well as the wide spectrum of clinical phenotype, though a clear correlation between the severity of the phenotype and inactivation bias was observed. [ABSTRACT FROM AUTHOR]

Abstract: We report here a de novo 16q24.1 interstitial duplication in a woman with a severe phenotype consistent with mental retardation, spastic paraplegia, severe epilepsy, a narrow and arched palate, malar hypoplasia, little subcutaneous fat and arachnodactyly. Although conventional karyotyping was found to be normal, array-CGH detected a small duplication on chromosome 16. Using QFM-PCR, we characterised its proximal and distal breakpoints. The duplication, which is approximately 250 kb, encompasses seven genes (KIAA0182, GINS2, c16orf74, COX4NB, COX4I1, MIR1910 and IRF8). Several reports have previously described large 16q duplications, and some of these overlap with our region in 16q24.1. Due to the variability of the described phenotypes, the characterisation of small 16q duplications may help to determine critical regions and the genes they contain that are associated with the components of complex phenotypes. [Copyright &y& Elsevier]

Detailed investigation of the adsorption of acetaldehydeon Ihice is performed under tropospheric conditions bymeans ofgrand canonical Monte Carlo computer simulations and compared to infraredspectroscopy measurements. The experimental and simulation resultsare in a clear accordance with each other. The simulations indicatethat the adsorption process follows Langmuir behavior in the entirepressure range of the vapor phase of acetaldehyde. Further, it wasfound that the adsorption layer is strictly monomolecular, and theadsorbed acetaldehyde molecules are bound to the ice surface by onlyone hydrogen bond, typically formed with the dangling H atoms at theice surface, in agreement with the experimental results. Besides thishydrogen bonding, at high surface coverages dipolar attraction betweenneighboring acetaldehyde molecules also contributes considerably tothe energy gain of the adsorption. The acetaldehyde molecules adoptstrongly tilted orientations relative to the ice surface, the tiltangle being scattered between 50° and 90° (i.e., perpendicularorientation). The range of the preferred tilt angles narrows, andthe preference for perpendicular orientation becomes stronger uponsaturation of the adsorption layer. The CH3group of theacetaldehyde molecules points as straight away from the ice surfacewithin the constraint imposed by the tilt angle adopted by the moleculeas possible. The heat of adsorption at infinitely low coverage isfound to be −36 ± 2 kJ/mol from the infrared spectroscopymeasurement, which is in excellent agreement with the computer simulationvalue of −34.1 kJ/mol. [ABSTRACT FROM AUTHOR]

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a β-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyria. Neuropathological examination of the fetus revealed an absence of cortical lamination associated with the presence of ectopic neuronal cells in the white matter and in the leptomeningeal spaces due to breaches in the pial basement membrane. In utero RNAi-based inactivation demonstrates that TUBB2B is required for neuronal migration. We also show that two disease-associated mutations lead to impaired formation of tubulin heterodimers. These observations, together with previous data, show that disruption of microtubule-based processes underlies a large spectrum of neuronal migration disorders that includes not only lissencephaly and pachygyria, but also polymicrogyria malformations. [ABSTRACT FROM AUTHOR]

Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations, polydactyly, multicystic kidney dysplasia, and ductal changes of the liver. Three loci have been mapped (MKS1-MKS3), and two genes have been identified (MKS1/FLJ20345 and MKS3/TMEM67), whereas the gene at the MKS2 locus remains unknown. To identify new MKS loci, a genomewide linkage scan was performed using 10-cM-resolution microsatellite markers in eight families. The highest heterogeneity LOD score was obtained for chromosome 12, in an interval containing CEP290, a gene recently identified as causative of Joubert syndrome (JS) and isolated Leber congenital amaurosis. In view of our recent findings of allelism, at the MKS3 locus, between these two disorders, CEP290 was considered a candidate, and homozygous or compound heterozygous truncating mutations were identified in four families. Sequencing of additional cases identified CEP290 mutations in two fetuses with MKS and in four families presenting a cerebro-reno-digital syndrome, with a phenotype overlapping MKS and JS, further demonstrating that MKS and JS can be variable expressions of the same ciliopathy. These data identify a fourth locus for MKS (MKS4) and the CEP290 gene as responsible for MKS. [ABSTRACT FROM AUTHOR]

Familial forms of retinoblastoma, an embryonic neoplasm of retinal origin, are caused by constitutional mutations of the RB1 gene. In this paper, we describe a family with retinoblastoma affecting two brothers with no previous family history of cancer. Complete RB1 mutational screening including point mutation and large rearrangement screening failed to demonstrate any mutation. The whole coding sequence was therefore investigated at the cDNA level, demonstrating a 103 bp intronic insertion between exons 23 and 24, leading to subsequent frameshift and premature termination of translation. This intronic exonisation was caused by a deep intronic mutation in intron 23 generating a cryptic 3′ splice site. This is the first report of a deep intronic mutation in RB1 and is a proof of concept that some undetected RB1 mutations should be investigated at the cDNA level, particularly in hereditary forms of retinoblastoma.European Journal of Human Genetics (2007) 15, 473–477. doi:10.1038/sj.ejhg.5201787; published online 14 February 2007 [ABSTRACT FROM AUTHOR]

Kabuki syndrome (KS) is a rare MCA/MR syndrome with an estimated frequency of 1/32?000 in Japan. This syndrome is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and mental retardation. The molecular basis of KS remains unknown. Recently, Milunsky and Huang reported on six unrelated patients with a clinical diagnosis of KS and an 8p22-8p23.1 duplication using comparative genomic hybridization and BAC-FISH studies. Also, they suggested that a paracentric inversion may contribute to the occurrence of KS. In the present study, 24 patients with a clinical diagnosis of KS based on Niikawa-Kuroki criteria have been collected. They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication.European Journal of Human Genetics (2005) 13, 690-693. doi:10.1038/sj.ejhg.5201383 Published online 16 March 2005 [ABSTRACT FROM AUTHOR]

Abstract: X-ray Absorption Near Edge Structure (XANES) experiments were performed at the O-, Na-, Al-, and Si K-edges in sodium silicate and aluminosilicate glasses with a NBO/T (non-bridging oxygen per tetrahedron) ratio ranging from 0 to 1. In order to better understand how the sample surface can affect the measured XANES spectra, special attention was paid to the glass surface (i.e., fresh vs. “old” surfaces but also surfaces vs. powders) and to the detection mode (fluorescence vs. electron yield). We observe that, at the Na K-edge, XANES experiments on glass compositions with high Na/Al ratios must be performed on highly “fresh” surfaces (i.e., at most a couple of hours old). In these compositions, the collected XANES may show features that are relevant to major structural reorganization near the surface (carbonate-like re-organizations). In contrast, highly polymerized glasses (such as albitic glass, Na2O–Al2O3–6SiO2) are much less sensitive to long-term exposure to atmospheric agents (namely water and CO2). A study of a 30-year-old albite glass and a natural rhyolitic glass confirms these observations, suggesting that these glasses are highly durable. [Copyright &y& Elsevier]

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization. [ABSTRACT FROM AUTHOR]

Molybdenum is one of the most abundant fission products created in UO2 fuel. Post-irradiation examinations show that molybdenum is mainly associated with rhodium, ruthenium, palladium and technetium in metallic precipitates. However, for low burn-ups, these five metal particles cannot be detected. In order to determine the chemical state of molybdenum in UO2, XANES experiments were carried out on fresh UO2 pellets implanted with Mo ions. The measurements performed at the oxygen K and molybdenum LIII edges showed a correlation between the chemical state of molybdenum and the O/U ratio of the UO2 matrix. Indeed, the molybdenum located at the grain boundaries is present in both metallic and +IV oxidation states. To our knowledge, this study is the first experimental evidence of the solution annealing of Mo+IV in the cationic lattice of UO2. Thus, when molybdenum is oxidised at the +IV state, it remains in solution in the UO2 matrix. [Copyright &y& Elsevier]

SummaryBackground: Neonatal screening for cystic fibrosis has been a subject of debate over the past few years. This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on prenatal screening of subsequent pregnancies in couples with an affected child.Methods: The study included all the neonates screened for cystic fibrosis in Brittany from Jan 1, 1989, to Dec 31, 1998. The screening consisted of an immunoreactive trypsinogen assay from dried blood spots, plus, from 1993, mutation analysis. Data were collected on incidence of cystic fibrosis, and genotypic and biochemical characteristics. The use of prenatal screening of subsequent pregnancies in affected families was also investigated.Findings: Of the 343 756 neonates screened, 118 children with cystic fibrosis were identified, giving an incidence of one in 2913. All mutated alleles were characterised: 34 different mutations resulting in 36 genotypes were detected. The introduction of DNA analysis into the protocol greatly reduced the recall rate and increased the sensitivity of the test. The mean cost of the screening programme was US$2.32 per screened child. 39 (34%) of the families identified by neonatal screening opted for subsequent prenatal diagnosis at least once. 12 couples would have benefited from this procedure while their first child was still symptom-free. 42 healthy children were born, and 18 pregnancies were terminated (therapeutic abortion rate of 100%).Interpretation: We have shown the feasibility of neonatal screening for cystic fibrosis in Brittany. Through the detection of a large range of mutations, neonatal screening provides the opportunity for more reliable prenatal diagnosis and cascade screening. The neonatal screening programme described here could provide a good model for other countries intending to initiate such a scheme. [ABSTRACT FROM AUTHOR]

Human behaviors probably represent the most important causes of the SARS-Cov-2 virus propagation. However, the role of virus transport by aerosols—and therefore the influence of atmospheric conditions (temperature, humidity, type and concentration of aerosols)—on the spread of the epidemic remains an open and still debated question. This work aims to study whether or not the meteorological conditions related to the different aerosol properties in continental and coastal urbanized areas might influence the atmospheric transport of the SARS-Cov-2 virus. Our analysis focuses on the lockdown period to reduce the differences in the social behavior and highlight those of the weather conditions. As an example, we investigated the contamination cases during March 2020 in two specific French areas located in both continental and coastal areas with regard to the meteorological conditions and the corresponding aerosol properties, the optical depth (AOD) and the Angstrom exponent provided by the AERONET network. The results show that the analysis of aerosol ground-based data can be of interest to assess a virus survey. We found that moderate to strong onshore winds occurring in coastal regions and inducing humid environment and large sea-spray production episodes coincides with smaller COVID-19 contamination rates. We assume that the coagulation of SARS-Cov-2 viral particles with hygroscopic salty sea-spray aerosols might tend to inhibit its viral infectivity via possible reaction with NaCl, especially in high relative humidity environments typical of maritime sites. [ABSTRACT FROM AUTHOR]

Background: Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterization of CNS involvement observed in this disorder.Methods: A cohort of 117 molecularly diagnosed OFD type I patients was screened for the presence of neurological symptoms and/or cognitive/behavioral abnormalities on the basis of the available information supplied by the collaborating clinicians. Seventy-one cases showing CNS involvement were further investigated through neuroimaging studies and neuropsychological testing.Results: Seventeen patients were molecularly diagnosed in the course of this study and five of these represent new mutations never reported before. Among patients displaying neurological symptoms and/or cognitive/behavioral abnormalities, we identified brain structural anomalies in 88.7%, cognitive impairment in 68%, and associated neurological disorders and signs in 53% of cases. The most frequently observed brain structural anomalies included agenesis of the corpus callosum and neuronal migration/organisation disorders as well as intracerebral cysts, porencephaly and cerebellar malformations.Conclusions: Our results support recent published findings indicating that CNS involvement in this condition is found in more than 60% of cases. Our findings correlate well with the kind of brain developmental anomalies described in other ciliopathies. Interestingly, we also described specific neuropsychological aspects such as reduced ability in processing verbal information, slow thought process, difficulties in attention and concentration, and notably, long-term memory deficits which may indicate a specific role of OFD1 and/or primary cilia in higher brain functions. [ABSTRACT FROM AUTHOR]

A correction to the article "Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age," that was published in the January 9, 2009 issue is presented.