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A recent survey conducted in France aimed to assess the knowledge and understanding of myopia among the general population. The results showed that a majority of participants had a poor understanding of myopia, with many providing incorrect definitions and lacking knowledge about the signs, risk factors, and complications of myopia. The survey highlights the need for public education about myopia, particularly among parents who play a significant role in influencing their children's lifestyle choices. Improving knowledge about myopia is crucial for promoting eye health and ensuring access to appropriate healthcare in the future. [Extracted from the article]

Primary cilia (PC) are important signaling hubs, and we here explored their role in colonic pathology. In the colon, PC are mostly present on fibroblasts, and exposure of mice to either chemically induced colitis‐associated colon carcinogenesis (CAC) or dextran sodium sulfate (DSS)‐induced acute colitis decreases PC numbers. We generated conditional knockout mice with reduced numbers of PC on colonic fibroblasts. These mice show increased susceptibility to CAC, as well as DSS‐induced colitis. Secretome and immunohistochemical analyses of DSS‐treated mice display an elevated production of the proinflammatory cytokine IL‐6 in PC‐deficient colons. An inflammatory environment diminishes PC presence in primary fibroblast cultures, which is triggered by IL‐6 as identified by RNA‐seq analysis together with blocking experiments. These findings suggest an activation loop between IL‐6 production and PC loss. An analysis of PC presence on biopsies of patients with ulcerative colitis or colorectal cancer (CRC) reveals decreased numbers of PC on colonic fibroblasts in pathological compared with surrounding normal tissue. Taken together, we provide evidence that a decrease in colonic PC numbers promotes colitis and CRC. Synopsis: Primary cilia are present on colonic fibroblasts and their decrease in number promotes colitis and colon carcinogenesis. In colitis, primary cilia loss appears to be ultimately linked to IL‐6 signaling. Primary cilia (PC) are present on colonic fibroblasts.Induction of either acute colitis or colitis‐associated colon carcinogenesis in mice decreases PC numbers.Primary cilia deficiency promotes colonic pathologies.PC numbers on colonic fibroblasts in biopsies of ulcerative colitis or colorectal cancer patients are decreased. [ABSTRACT FROM AUTHOR]

We described a novel de novo missense variant of the gene encoding Collagen alpha‐2(V) chain, associated with the classical Ehlers–Danlos syndrome (cEDS) (OMIM#130010), in a 14‐year‐old patient who presented with congenital and severe scoliosis, muscle hypotonia, ocular manifestations, and no atrophic scaring. This case expands the phenotypic spectrum of cEDS. [ABSTRACT FROM AUTHOR]

Herein, silicon substrates intentionally contaminated by iron and copper are analyzed by an innovative technique based on photoluminescence (PL) measurement, with the aim to evaluate the sensitivity of this technique to low level contamination and its capability for further in‐line monitoring during devices fabrication. Measurements are carried out directly after samples preparation, with the combined use of PL and corona discharges to separate the contribution of metallic contamination from interface properties on the PL signal. The sensitivity of PL to both iron and copper contamination in silicon with higher sensitivity when surface recombination is minimized is shown. Therefore, this work highlights the importance of surface properties monitoring for the optimization of PL detection of metallic contamination. [ABSTRACT FROM AUTHOR]

Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco‐cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease‐causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non‐syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management. [ABSTRACT FROM AUTHOR]

Among the 97 children with choroidal abnormalities, 55 (110 eyes) with valid longitudinal follow-up imaging could be analysed (see example Figure 1); in 11 eyes of 8 children, these choroidal abnormalities were not detected at first assessment and appeared at subsequent visits. Choroidal abnormalities in neurofibromatosis type 1 (NF1) have been revealed and studied by using near-infrared (NIR) imaging since their description in 2000 by Yasunari et al.1 However, their pathological nature remains debated. It can be noticed that some choroidal abnormalities grew in surface, whereas new ones appeared over time gl The median follow-up by the patient between the first and the last NIR imaging analysis was 38.6 [3.7-103.6] months. [Extracted from the article]

Introduction: The aim of this study was to evaluate the efficacy of a serious exergame in improving the neuropsychiatric symptoms of patients with neurocognitive disorders. Methods: X-Torp is a serious exergame combining motor and cognitive activities. Ninety-one subjects (mean age = 81.7 years, mean Mini-Mental State Examination = 18.3) were recruited in 16 centers. Centers were randomized into intervention and control centers. Subjects underwent assessment for cognitive and behavioral symptoms at baseline (BL), the end of the intervention (W12), and 12 weeks after the end of the intervention (W24). Results: The comparison of neuropsychiatric symptoms between BL and W12 and W24 showed that subjects of the intervention group improved in apathy between BL andW12. Mixed analysis (time BL,W12, W24 x group) indicated a significant increase in apathy and neuropsychiatric symptoms in the control subjects. Discussion: The use of X-Torp improved neuropsychiatric symptoms, particularly apathy. Future studies should more consistently use behavioral and neuropsychiatric symptoms as outcome measures. [ABSTRACT FROM AUTHOR]

Congenital orbital masses are rare disorders. A wide variety of lesions, including malignant and benign tumors, may develop around the orbit; hemangioma, lymphangioma, and optic nerve meningioma are the most common. Counseling for the prognosis and postnatal treatment depends on antenatal suspicion. Glial heterotopia should also be considered for the differential diagnosis. Integration of antenatal ultrasound and magnetic resonance imaging characteristics could help in the differential diagnosis. For the first time to our knowledge, a literature review on fetal orbital tumors was performed, along with a systematic description of imaging characteristics, treatment, and the prognosis. [ABSTRACT FROM AUTHOR]

Ocular surface in children present specificities especially for paediatric diseases. Anterior segment dysgenesia and congenital panocular diseases affect ocular surface. The ocular surface may present congenital opacities as in congenital glaucoma or Peters anomaly. In other diseases as aniridia, limbal insufficiency is evolutive with age creating Aniridia Associative Keratopathy (AAK). The interest of deep phenotyping with molecular genetics opens a wide range of better understanding of congenital ocular diseases. Mechanisms and physiopathology of induced inflammation will be developed. [ABSTRACT FROM AUTHOR]

Ocular surface may be affected by various rare congenital diseases. Anterior segment dysgenesia and congenital panocular diseases affecting ocular surface is usually from genetic origin. The ocular surface in aniridia may present progressive opacities due to limbal insufficiency creating Aniridia Associative Keratopathy (AAK). Molecular genetics usually reveals PAX6 gene mutation or deletion. Gene therapies in eyedrop form and repurposing drugs are tested for their efficacy and safety in congenital aniridia. Mechanisms and physiopathology of new gene therapies and drugs will be developed. [ABSTRACT FROM AUTHOR]

The use of myopia control devices is essential due to increased frequency of myopic children. Different solutions can be proposed in evolutive forms. Ocular check‐up and discussion with parents and their child allowed to adapt the best system to control myopia evolution. Optical correction are based on defocus system to control myopia. Defocus glasses with different systems (DIMS, HALT, ...), defocus soft contact lenses with systems (dual concentric ring, EDOF), and orthokeratology are proposed. Atropine low dose is also a very effective treatment when duration is at least 2 years. Different systems to treat myopia must be customized to children and parents needs. [ABSTRACT FROM AUTHOR]

Myopia control devices are essentially based on hyperopic defocus phenomenon induced in mid‐periphery of the retina. Increased frequency of myopia in children and evolutive forms needs to propose at least an optical device. Ocular check‐up is performed to adapt the best system for control myopia evolution in children. Optical correction is based on defocus system to control myopia. Defocus glasses with different systems (DIMS, HALT, progressive system...), defocus soft contact lenses with systems (dual concentric ring, EDOF), and orthokeratology are proposed. Different systems to treat myopia must be customized to children and parents needs. [ABSTRACT FROM AUTHOR]

Abstract: Questions: How did the montane forest of the leeward northern slopes on Mt. Kilimanjaro respond to climate fluctuation during the late Quaternary? Location: Mt. Kilimanjaro, Tanzania. Methods: Pollen, phytolith and macro‐charcoal analyses from a palaeosol. Results: Palaeoecological analyses indicate that vegetation was mainly characterized by Ericaceae with Poaceae dominated by cold‐adapted C3 highland grasses during the pre‐LGM and the LGM. From the last deglaciation onwards, the previous assemblage was progressively replaced by Podocarpus forest associated with Clematis and later the expansion of ferns, then Araliaceae, Hagenia abyssinica, Ilex mitis and Olea started in the early Holocene. Conclusion: Vegetation dynamics reveal that open sub‐alpine vegetation associated with some components of afro‐alpine grassland was located at a lower elevation than today, related to cold and dry conditions during the Late Glacial. In contrast to Mt. Kenya, our results show an absence of C4 grass expansion on the northern slope of Mt. Kilimanjaro during the LGM. From the last deglaciation to the early Holocene, under temperature and precipitation increase, the vegetation zones moved upward, as indicated by the development of upper montane forest at the expense of the sub‐alpine vegetation. Although we confirm the altitudinal movements of vegetation zones generally observed from the Late Glacial to the Holocene in East African mountains, our results also reveal the importance of local environmental conditions in mountain vegetation response. [ABSTRACT FROM AUTHOR]

Rare eye diseases are considered if the prevalence is lower than 1/2000 in the general population and are usually recognized in paediatric ophthalmologic practices. Even if not all ophthalmologists see these ocular diseases, the model mostly genetic, can be useful to treat other ocular anomalies in pathologies that are more common. We will expose new insights in congenital aniridia, a congenital panocular disorder characterized by complete or partial iris hypoplasia and foveal hypoplasia, resulting in nystagmus and reduced visual acuity. High‐resolution foveal imaging by spectral‐domain optical coherence tomography (SD‐OCT) may improve the diagnosis. Moreover, Leber congenital amaurosis is a new model for gene therapy and opens new therapeutic options. We will also provide update for congenital anterior segment malformations, vernal keratoconjunctivitis, albinism and OVCR in children. [ABSTRACT FROM AUTHOR]

Myopia is the most common ocular pathology with a major recent increasing in Asia and all over the world. This refractive anomaly has usually an onset during infancy. However, myopia is not only a refractive pathology but it may also lead to retinal complications. When myopia is diagnosed, a complete check‐up should be performed including VA, refraction under cycloplegia, orthoptic check‐up, optical axial length, fundus and if possible ultra‐wide field fundus and macular OCT. These examinations lead to propose the best‐adapted system for myopia control. The follow‐up of myopia include systematically VA, Refraction under cycloplegia and optical axial length. Practical cases will be described for a better understanding of myopia evolution in children. [ABSTRACT FROM AUTHOR]

As myopia increased dramatically in Asia and all over the world, the use of myopia control devices is proposed in evolutive forms. An initial ocular check‐up is performed to adapt the best system to control myopia evolution. Optical correction are based on defocus system to control myopia. Defocus glasses with different systems (DIMS, HALT...), defocus soft contact lenses with systems (dual concentric ring, EDOF), and orthokeratology are proposed to treat myopia and must be customized to children and parent needs. [ABSTRACT FROM AUTHOR]

Purpose: Retinal vascular abnormalities (RVA) have been recently described in patients with neurofibromatosis type 1 (NF1) as vascular tortuosity, best visible on infrared imaging. This study assessed clinical RVA's characteristics in a large series of children with NF1. Methods: This retrospective observational study was conducted in children (0–18 years old) with an NF1 diagnosis. Using near infrared imaging, RVAs were classified according to the nature of vessels involvement and their degree of tortuosity. Results: Retinal imaging from 140 children, with a median age of 8.8 [1.5–18] years, were included; 52 (37.1%) patients (81 eyes) exhibited RVAs. These RVAs comprised 96% (50/52) of simple vascular tortuosity and 17% (9/52) of cork‐screw pattern. Cork‐screw pattern involved only small veins, while simple vascular tortuosity could affect both arteries and veins. No statistically significant age correlation was observed, but evolution of RVAs from simple vascular tortuosity to cork‐screw pattern was observed in 5 cases. Conclusions: Retinal vascular abnormalities occurred in 37.1% of children with NF1. These abnormalities may result from NF1 promoting localized tortuosity in both small arteries and veins, while only small second or tertiary order venules evolve to highly tortuous pattern. [ABSTRACT FROM AUTHOR]

Background: Early detection of cognitive impairments is crucial for successful implementation of preventive strategies. However, in rural isolated areas or so‐called 'medical deserts', access to diagnosis and care is very limited. With the current pandemic crisis, now even more than ever, remote solutions such as telemedicine platforms represent great potential and can help to overcome this barrier. Moreover, current advances made in voice and image analysis can help overcoming the barrier of the physical distance by providing additional information of a patients' emotional and cognitive state. Therefore, the aim of this study is to evaluate the feasibility and reliability of a videoconference system for remote cognitive testing empowered by automatic speech and video analysis. Method: 60 participants (aged 55 and older) with and without cognitive impairment are recruited. A complete neuropsychological assessment including a short clinical interview are administered in two conditions, once by telemedicine and once by face‐to‐face. The administration procedure is randomized. Acceptability and user experience are assessed among participants and clinicians in qualitative and quantitative manner. Speech and video features will be extracted and analyzed to obtain additional information on mood and engagement levels. Result: Similar results were obtained on the several cognitive test measures when comparing the remote to the face‐to‐face administration method. Word recall (r=0,928) and picture naming task (r=0,939) showed the strongest correlation. Acceptability of the tool was relatively high with preference even in the remote method for more convenience. Conclusion: Results support the feasibility and reliability of remote cognitive testing through administration via a telemedicine tool. These systems can be used for remote disease monitoring, enabling patients to be assessed in their own homes and improve utilization of expert assessors allowing them to conduct neurocognitive testing remotely. [ABSTRACT FROM AUTHOR]

Purpose. Electronic health record systems provide great opportunity to study most diseases. Objective of this study was to determine whether electronic medical records (EMR) in ophthalmology contribute to management of rare eye diseases, isolated or in syndromes. Study was designed to identify and collect patients’ data with ophthalmology-specific EMR. Methods. Ophthalmology-specific EMR software (Softalmo software Corilus) was used to acquire ophthalmological ocular consultation data from patients with five rare eye diseases. The rare eye diseases and data were selected and collected regarding expertise of eye center. Results. A total of 135,206 outpatient consultations were performed between 2011 and 2014 in our medical center specialized in rare eye diseases. The search software identified 29 congenital aniridia, 6 Axenfeld/Rieger syndrome, 11 BEPS, 3 Nanophthalmos, and 3 Rubinstein-Taybi syndrome. Discussion. EMR provides advantages for medical care. The use of ophthalmology-specific EMR is reliable and can contribute to a comprehensive ocular visual phenotype useful for clinical research. Conclusion. Routinely EMR acquired with specific software dedicated to ophthalmology provides sufficient detail for rare diseases. These software-collected data appear useful for creating patient cohorts and recording ocular examination, avoiding the time-consuming analysis of paper records and investigation, in a University Hospital linked to a National Reference Rare Center Disease. [ABSTRACT FROM AUTHOR]

In this study, the authors propose a complete framework based on a hierarchical activity model to understand and recognise activities of daily living in unstructured scenes. At each particular time of a long-time video, the framework extracts a set of space-time trajectory features describing the global position of an observed person and the motion of his/ her body parts. Human motion information is gathered in a new feature that the authors call perceptual feature chunks (PFCs). The set of PFCs is used to learn, in an unsupervised way, particular regions of the scene (topology) where the important activities occur. Using topologies and PFCs, the video is broken into a set of small events ('primitive events') that have a semantic meaning. The sequences of 'primitive events' and topologies are used to construct hierarchical models for activities. The proposed approach has been tested with the medical field application to monitor patients suffering from Alzheimer's and dementia. The authors have compared their approach to their previous study and a rule-based approach. Experimental results show that the framework achieves better performance than existing works and has the potential to be used as a monitoring tool in medical field applications. [ABSTRACT FROM AUTHOR]

Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene ( ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Microbiology has continuously pushed efforts towards understanding microbial diversity. Technologies and methods have also evolved, from plating, and use of microscopes and cytometers, towards micro-well handling robots and, finally, fluidic-based devices. The aim of this review was to bring microbiologists attention to the outstanding analytical and handling power of millifluidic droplet technologies for analysing and sorting phenotypic diversity in the microbial world. This new format overcomes many limitations of previous approaches. It provides outstanding reproducible growth conditions over droplet reservoirs allowing unprecedented sensitive read-out over thousands of colonies over time. The confinement of the millifluidic train within tubes and the implementation of a three phases format excludes any contamination issues. The automation and handling of reservoir droplets is inherently facilitated. We show as a proof of principle the efficiency of capturing phenotypic diversity within a bacterial sample submitted to a sub-minimum inhibitory concentration of antibiotic. The precision offered by the millifluidic format allows the detection of a variety of resistance strategies that compete and coexist. The review finally explores the potential of this approach to address new challenges such as community-based growth of multiple-strain systems. [ABSTRACT FROM AUTHOR]

Steady-state and time-resolved photoluminescence of silicon nanoparticles dispersed in low-polar liquids at above room temperature is studied. The roles of low-polar liquids as well as mechanisms responsible for their temperature-dependent photoluminescence are discussed. The thermal sensitivity of the photoluminescence is estimated and application of the nanoparticles as nanothermometers is proposed. [ABSTRACT FROM AUTHOR]

Recent data suggest that apart from its well-known role in the regulation of xenobiotic metabolizing enzymes, AhR is also involved in inflammation. However, the influence of inflammation on AhR expression remains unknown. Here, we demonstrated that proinflammatory conditions induced by either PMA or IL-1β enhance AhR expression in Caco-2 cells. This was associated with an increase in AhR promoter activity. By means of directed mutagenesis experiments and the use of proteasome inhibitors, we demonstrated that inflammation-induced AhR expression involved the NFκB pathway but not AP-1. Moreover, conditioned media from PMA-treated Caco-2 cells were also able to induce AhR expression, and this induction was repressed by anti-IL-1β blocking antibodies. Similar results were obtained with conditioned media from PMA-treated THP-1 cells. Taken together, these data suggest that AhR could be involved in vivo in an inflammatory loop. AhR was recently suspected to be implicated in inflammatory bowel disease. Our results support this hypothesis and suggest that AhR could be a new target for inflammatory bowel disease patient management. [ABSTRACT FROM AUTHOR]

ABSTRACT Aim To describe patterns of tree cover in savannas over a climatic gradient and a range of spatial scales and test if there are identifiable climate-related mean structures, if tree cover always increases with water availability and if there is a continuous trend or a stepwise trend in tree cover. Location Central Tropical Africa. Methods We compared a new analysis of satellite tree cover data with botanical, phytogeographical and environmental data. Results Along the climatic transect, six vegetation structures were distinguished according to their average tree cover, which can co-occur as mosaics. The resulting abrupt shifts in tree cover were not correlated to any shifts in either environmental variables or in tree species distributions. Main conclusions A strong contrast appears between fine-scale variability in tree cover and coarse-scale structural states that are stable over several degrees of latitude. While climate parameters and species pools display a continuous evolution along the climatic gradient, these stable structural states have discontinuous transitions, resulting in regions containing mosaics of alternative stable states. Soils appear to have little effect inside the climatic stable state domains but a strong action on the location of the transitions. This indicates that savannas are patch dynamics systems, prone to feedbacks stabilizing their coarse-scale structure over wide ranges of environmental conditions. [ABSTRACT FROM AUTHOR]

Changes in C4 grass distribution and abundance are frequently observed in Quaternary, Holocene and future environmental-change scenarios. However, the factors driving these dynamics are not fully understood, and conflicting theories have been reported. In this paper, we present a very large dataset of modern altitudinal distribution profiles of C3 and C4 grasses covering the entire Neotropical Andes, which was compared with actual climate data. The results of multivariate analysis demonstrate that, in the Neotropical Andes, mean annual temperature is the main factor governing the modern altitudinal distribution of C3 and C4 grass species. The C3 and C4 grass distributions were compared with simulations based on the Lund-Potsdam-Jena dynamic global vegetation model ( LPJ- DGVM), which allowed the present grass distribution to be estimated. Finally, the DGVM was employed to simulate past and future scenarios, using the IPCC's climate projections for 2100 and PMIP2 models for the Holocene Optimum ( HO, 6000 years bp) and the Last Glacial Maximum ( LGM, 21 000 years bp). The results were found to be significantly different from those obtained using a simple photosynthetic model. According to LPJ forced with the PMIP2 models for the LGM, during the LGM, the C4 grasses would not have reached higher altitudes than found in the present day. [ABSTRACT FROM AUTHOR]

Aim To calibrate a model of the relationship between bio-proxies (pollen, phytoliths and δ 13 C of soil organic matter) and woody cover, measured as the leaf area index ( LAI). This relationship, applied in palaeosequences, enables reconstruction of past savanna tree cover. Location The samples are from tropical Africa. Modern soil samples are from the Central African Republic and past samples are from sediments of lakes in Senegal and Congo. Methods We analysed the pollen and phytolith content and stable carbon isotope values of 17 soil samples taken from three short transects in the Central African Republic; LAI was measured on the same transects. The indices used were the AP/ NAP ratio of arboreal ( AP) to non-arboreal ( NAP) pollen, the D/P ratio of ligneous dicotyledons ( D) to Poaceae ( P) phytoliths, and the δ 13 C of soil organic matter, i.e. the 13C/12C ratio. Results A multi-proxy model was calibrated. The best model included only a combination of pollen and phytolith as proxies, excluding organic matter δ 13 C because of its long mean residence time in the soil. The model was then applied to two palaeosequences in Africa, and a time series of relative LAI changes was obtained, providing new information about vegetation changes. Conclusion This model can be applied in palaeosequences to reconstruct relative time series of LAI in African savannas and can help interpret vegetation changes quantitatively. This approach is complementary to the description of pollen and phytolith assemblages. [ABSTRACT FROM AUTHOR]

1. Relationships between vegetation, climate and disturbance are likely to be altered in the near future as a result of changes in both climate and human impacts on ecosystems. These changes could trigger species losses and distribution shifts in sensitive (e.g. mountainous) ecosystems. Models project a 2.5-3 °C increase in global temperatures by the end of the 21st century, and combined with effects of current land-use abandonment (leading to the build-up of fuel material); these increases could cause future ecosystems to become similar to ecosystems of the first half of the Holocene when human impact was negligible. 2. A high-resolution macroremain record from a small subalpine lake in Italy allowed us to examine 8000 years of stand vegetation dynamics. Linkages between disturbance, vegetation and climate were deciphered by reconstructing local fire occurrence patterns from charcoal remains, characterizing plant species richness by rarefaction analysis, and regional climatic reconstructions in the light of the human archaeological context. 3. Before 5100 cal. yearbp, forest ecosystems had fluctuating richness and an intermediate mean fire frequency. The climate was warmer and drier than today. From c. 5100 to 2200 cal. yearbp when the climate became wetter, a higher fire frequency promoted the establishment of mixed ecosystems with several tree species, a herbaceous understorey and higher richness. The last 2200 years were characterized by a decrease in richness, a lower fire frequency, and lower temperatures and precipitation. Over the last 8000 years, the probability of fire has increased with time since the last fire, probably as a result of increased fuel-load or composition, which has assisted the spread of fire. 4. Synthesis. The fire frequency was higher when forest richness was higher, during periods of wetter climate. Temperatures had no correlation with the fire frequency and the ecosystem dynamics in the study region. [ABSTRACT FROM AUTHOR]

Aim In order to enhance the effectiveness of comparisons between modelled and empirical data for present and past vegetation, it is important to improve the characterization of tropical grass-dominated biomes reconstructed from fossil tracers. This study presents a method for assigning phytolith assemblages to tropical grass-dominated biomes, with the objective of offering a new tool for combining pollen and phytolith data in the reconstruction of tropical biomes. Location The West African latitudinal transect studied here extends from 12° N (southern Senegal) to 23° N (southern Mauritania), passing through the Guinean, Sudanian, Sahelian and Saharan bioclimatic zones. Methods Modern phytolith assemblages were extracted from 59 soil surface samples taken throughout the study area and allocated, a priori, to three current biomes: (1) desert C4 grassland, (2) short grass savanna, and (3) tall grass savanna. Five out of nine phytolith types identified were used as predictors in a discriminant analysis (with calibration and validation steps) for assigning phytolith assemblages to biomes. In addition, 74 modern pollen spectra from the West African transect, acquired from the African Pollen Database ( ), were processed by the biomization method. This mathematical procedure involves assigning palynological taxa to one or more plant functional types, which represent broad classes of plants. The plant functional types, in turn, are combined to define biomes following a specific set of algorithms and rules. The resulting maps of the phytolith biomes thus derived were compared with maps of pollen biomes and of contemporary ecosystem classes. Results In the calibration and validation steps, 91.5% and up to 83%, respectively, of the phytolith samples were assigned to the correct biome. The short grass savanna and tall grass savanna biomes were assigned with similar accuracy by both the phytolith and pollen biomization methods, but the phytolith method gave substantially superior results for the desert C4 grassland biome, providing seven out of seven correct assignments, compared with just one out of four by pollen biomization. Comparisons between an existing ecosystem map and the maps created from phytolith estimation showed close correspondence for desert C4 grassland, short grass savanna and tall grass savanna, the latter providing correct assignments in 88, 62 and 91% of cases, respectively. Main conclusions The phytolith discriminant analysis method presented here accurately estimates three C4 grass-dominated biomes that are widespread in West Africa. Complementarities between the phytolith method and pollen biomization are highlighted. Combining complementary phytolith and pollen data would provide more accurate assignments of C4 grass-dominated biomes than pollen biomization alone. [ABSTRACT FROM AUTHOR]

• Silicon biomineralization is a widespread mechanism found in several kingdoms that concerns both unicellular and multicellular organisms. As a result of genomic and molecular tools, diatoms have emerged as a good model for biomineralization studies and have provided most of the current knowledge on this process. However, the number of techniques available to study its dynamics at the cellular level is still rather limited. • Here, new probes were developed specifically to label the pre-existing or the newly synthesized silica frustule of several diatoms species. • It is shown that the LysoTracker Yellow HCK-123, which can be used to visualize silica frustules with common filter sets, presents an enhanced signal-to-noise ratio and allows details of the frustules to be imaged without of the use of ionophores. It is also demonstrated that methoxysilane derivatives can be coupled to fluorescein-5-isothiocyanate (FITC) to preferentially label the silica components of living cells. • The coupling of labeling procedures might help to address the challenging question of the process of frustule exocytosis. [ABSTRACT FROM AUTHOR]

CHARGE syndrome (OMIM #214800) is a multiple malformation syndrome with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA binding 7) haploinsufficiency. Familial occurrence of CHARGE syndrome is rare. We report six patients from two Caucasian families (both with one parent and two children) affected by mild to severe CHARGE syndrome. Direct sequencing of the CHD7 gene was performed in these two unrelated families. A mutation in exon 8 (c.2501C>T – p.S834F) in first chromodomain was found in family A and a nonsense mutation in exon 2 (c.469C>T – p.R157X) in family B. Both mutations are de novo in the parents. In family A, the elder son had bilateral cleft lip and palate, esophageal atresia with fistula, complex heart defect and vertebral abnormalities, while the younger had a posterior coloboma. Their mother had asymptomatic vestibular dysfunction and retinal coloboma, identified after the molecular diagnosis of her children. In family B, both affected children had severe expression of CHARGE syndrome. The father carrying the mutation only had asymmetric anomaly of the pinnae. These familial reports describe the intrafamilial variability of CHARGE syndrome, and underline the presence of CHD7 mutations in patients who do not fit the ‘classical clinical criteria’ for CHARGE syndrome. [ABSTRACT FROM AUTHOR]

We document evidence for growth of an active volcano in a compressional Andean setting. Our data are surface structures and 39Ar-40Ar ages of volcanic products on Tromen volcano. Tromen is an active back-arc volcano in the Andean foothills of Neuquén province, Argentina. Its volcanic products are unconformable upon Mesozoic strata of the Neuquén basin. The volcano straddles a N-S trending pop-up, which formed during E-W shortening. The main underlying structures are eastward verging thrusts. Their traces curve around the eastern foot of the volcano. Minor folds and faults also occur in the volcanic cover of Tromen, as a result of E-W shortening. New 39Ar-40Ar ages for these volcanic rocks are younger than 2.27 ± 0.10 Ma and show that Tromen has been active almost continuously from the late Pliocene to the Holocene. We conclude that volcanism and thrusting have been coeval and that magma must have reached the surface in a tectonic setting of horizontal compression. Our results have wider implications for magmatic processes in such settings. [ABSTRACT FROM AUTHOR]

Bi-allelic mutations in I LRMDA i gene (leucine-rich melanocyte differentiation-associated protein or I C10orf11 i gene, chromosome 10 open reading frame 11 or leucine-rich differentiation-associated protein), located on chromosome 10q22, are associated with the newly described and very rare OCA7 subtype (MIM615179). OCA7 was first described in 8 members from the same family from Faroe Islands and in one patient from Lithuania.[2] While ocular symptoms predominate, patients presented with pale skin, scalp hair colors varied from pale blond to dark brown. Notably, four patients (from Turkey, Lithuania and our two patients) carry the same c.66dupC suggesting a founder effect in the east part of Europe and Asia. [Extracted from the article]

Aim Africa is identified by the Inter-governmental Panel on Climate Change (IPCC) as the least studied continent in terms of ecosystem dynamics and climate variability. The aim of this study was (1) to adapt the Lund-Postdam-Jena-GUESS (LPJ-GUESS) ecological modelling framework to Africa by providing new parameter values for tropical plant functional types (PFT), and (2) to assess the sensitivity of some African biomes to changes in precipitation regime. Location The study area was a representative transect (0–22° N and 7–18° E) through the transition from equatorial evergreen forests to savannas, steppes and desert northwards. The transect showed large latitudinal variation in precipitation (mean rainfall ranged from 50 to 2300 mm year−1). Methods New PFT parameters used to calibrate LPJ-GUESS were based on modern pollen PFTs and remote sensed leaf area index (LAI). The model was validated using independent modern pollen assemblages, LAI and through comparison with White’s modern potential vegetation map. Several scenarios were developed by combining changes in total rainfall amount with variation in the length of the dry season in order to test the sensitivity of African biomes. Results Simulated vegetation compared well to observed data at local and regional scales, in terms of ecosystem functioning (LAI), and composition (pollen and White’s vegetation map). The assessment of the sensitivity of biomes to changes in precipitation showed that none of the ecosystems would shift towards a new type under the range of precipitation increases suggested by the IPCC (increases from 5 to 20%). However, deciduous and semi-deciduous forests may be very sensitive to small reductions in both the amount and seasonality of precipitation. Main conclusions This version of LPJ-GUESS parameterized for Africa simulated correctly the vegetation present over a wide precipitation gradient. The biome sensitivity assessment showed that, compared with savannas and grasslands, closed canopy forests may be more sensitive to change in precipitation regime due to the synergetic effects of changed rainfall amounts and seasonality on vegetation functioning. [ABSTRACT FROM AUTHOR]

This study calibrates the relationship between phytolith indices, modern vegetation structure, and a climate parameter (AET/PET, i.e. the ratio of annual actual evapotranspiration to annual potential evapotranspiration), in order to present new proxies for long-term Quaternary climate and vegetation changes, and model/data comparisons.Sixty-two modern soil surface samples from West Africa (Mauritania and Senegal), collected along a latitudinal transect across four bioclimatic zones, were analysed.Two phytolith indices are defined as normalized data: (1) humidity-aridity index [Iph (%) = saddle vs. cross + dumbbell + saddle], and (2) water stress index [fan-shaped index (Fs) (%) = fan-shaped vs. sum of characteristic phytoliths]. Vegetation structures are delimited according to Iph and Fs boundaries. Bootstrapped regression methods are used for evaluating the strength of the relationship between the two phytolith indices and AET/PET. Additional modern phytolith assemblages, from Mexico, Cameroon and Tanzania are extracted in order to test the calibration established from the West African samples. Accuracy of the AET/PET phytolith proxy is compared with equivalent pollen proxy from the same area.Characterization of the grass cover is accurately made through Iph. A boundary of 20 ± 1.4% discriminates tall grass savannas from short grass savannas. Water stress and transpiration experienced by the grass cover can be estimated through Fs. AET/PET is accurately estimated from phytoliths by a transfer function: AET/PET = −0.605 Fs − 0.387 Iph + 0.272 (Iph – 20)2 (r = 0.80 ± 0.04) in the application domain (AET/PET ranging from 0.1 ± 0.04 to 0.45 ± 0.04). Phytolith and pollen estimate with similar precision (rpollen = 0.84 ± 0.04) the AET/PET in the studied area.This study demonstrates that we can rely on the phytolith indices Iph and Fs to distinguish the different grasslands in tropical areas. Moreover, a new phytolith proxy of AET/PET, linked to water availability, is presented. We suggest from these results that combining phytolith and pollen proxies of AET/PET would help to constrain this climate parameter better, especially when phytolith assemblages are dominated by Panicoideae and Chloridoideae C4-grass phytoliths, are devoid of Pooideae C3-grass phytoliths, and occur with a few tropical ligneous woody dicotyledon phytoliths. As AET/PET is a bioclimatic indicator commonly used in vegetation models, such a combination would help to make model/data comparisons more efficient. [ABSTRACT FROM AUTHOR]

InAs/GaAs vertically stacked self-assembled quantum dot (QD) structures with different GaAs spacer layer thicknesses are grown by solid source molecular beam epitaxy (SSMBE) and investigated by transmission electron microscopy (TEM) and photoluminescence (PL) spectroscopy. An increase in the polarization anisotropy is observed when the spacer layer thickness decreases. For a 10 monolayer (ML) thick inter-dots GaAs spacer, the TEM image shows an increase in the QD size when moving to the upper layer accompanied by the generation of dislocations. Consequently, the corresponding temperature-dependant PL properties are found to exhibit an unusual behaviour. The main PL peak is quenched at a temperature around 190 K giving rise to a broad background correlated with the formation of a miniband in the growth direction due to the strong interlayer coupling. For a thicker GaAs spacer layer (30 ML), multilayer QDs align vertically in stacks with no apparent structural defects. Over the whole temperature range, the excitonic band energies are governed by the Varshni empirical relation using InAs bulk parameters and the PL line width shows a slight monotonic increase. For a thinner GaAs interlayer, the thermal activation energies of the carrier emission out of the quantum dots are found to be considerably small (about 25 meV) due to the existence of defects. By combining these structural and optical results, we can conclude that a thinner GaAs spacer has a poorer quality. (© 2003 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim) [ABSTRACT FROM AUTHOR]

Abstract Current evolutionary forces and historical processes interact to shape the distribution of neutral genetic variability within and among populations. Focusing on the genetics of recently introduced organisms offers a good opportunity to understand the relative importance of these factors. This study concerns variation at 8 polymorphic microsatellite loci in 30 populations of Biomphalaria pfeifferi . The sampling area spans most of the species’ range in Madagascar where it was probably introduced recently. Extremely low variation was found within all populations studied, which may partly result from high selfing rates. However, this cannot account for the variance of variation across populations, which is better explained by habitat openness (that reflects environmental stochasticity), the prevalence of the parasitic trematode Schistosoma mansoni and historical demography (colonization and subsequent bottlenecks). Large global differentiation was also observed, suggesting that current gene flow among populations is limited to small distances, within watersheds and to few individuals. Our data set also allowed us to test several hypotheses regarding colonization, based on bottleneck and admixture tests. The observed pattern requires at least two independent introductions from slightly differentiated genetic sources in the western part of Madagascar. Another introduction, from a very different genetic origin, should also be postulated to explain the genetic composition of eastern populations. That this introduction occurred recently suggests that the colonization of Madagascar by B. pfeifferi is an ongoing process. [ABSTRACT FROM AUTHOR]

Over recent years, communication within the physician–patient relationship has been profoundly changing. New modes of conveying diagnostic and therapeutic information influence the way in which decisions regarding treatment are made. We propose a critical review of the various theoretical models as presented in the literature, from the paternalistic to the shared decision model, in order to reveal conceptual ambiguities and their related methodological problems. This analysis leads to a project for clarifying these problems through a research protocol based on shared decision-making. Copyright © 2001 John Wiley & Sons, Ltd. [ABSTRACT FROM AUTHOR]

The aim of this study was to evaluate the reliability and accuracy of sentinel node biopsy for invasive breast cancer and the predictability of axillary node status. Between January 1996 and June 1997 a total of 73 patients underwent patent blue dye lymphatic mapping and sentinel node biopsy followed by standard (level I and II) axillary node dissection (one bilateral procedure). The sentinel node was identified in 82.4% (61/74) of the cases and was predictive of axillary status in 96.7% (59/61). The false-negative rate of the procedure was 8.0% (2/25). The sentinel node was involved in 37.7% (23/61) and was the only one invaded in 30.4% (7/23). The sensitivity of the procedure was 92% (CI95% 74–99%) and its specificity 100%. It is currently considered to be an attractive new procedure undergoing evaluation in prospective controlled trials. This study confirmed the reliability and reproducibility of intraoperative lymphatic mapping and sentinel node biopsy. This is the first step toward a new era of minimally invasive axillary surgery for breast cancer. [ABSTRACT FROM AUTHOR]

Purpose: Ocular optics relies on several specific axes and angles. Angle alpha is the angle between the optical and the visual axes while the angle kappa is formed by the pupillary and the visual axes. The literature reports a non‐null angle kappa range between 1,91° ± 0,14° and 5,73° ± 0,10° in the healthy population. There is a positive correlation between the both angles. High positive angles can be found in high hypermetropia or genetic disorders such as albinism and aniridia. In strabological practice, a high angle can modify the visual aspect of the strabismus. A failed strabismus screening and divergence between visual appearance and Prism Covert Test (PCT) measurement can result from the presence of a high angle. We aim to purpose a classification of the visual appearance of the strabismus according to the PCT and the angle alpha value. Methods: Patients were recruited in the ophthalmology department. For each patient, the best corrected visual acuity was performed. Monocular and binocular corneal light reflex was evaluated and the ocular deviation was measured by PCT. Monocular picture with flash was realized. The angle alpha was calculated using the algorithm developed in the department. Results: We report a case series of five patients (3 boys and 2 girls) exhibiting an esotropia. Age range was 5.5 to 19 years‐old (med = 15, sd = 5.77). Esotropia range was 8 to 90∆ (med = 30, sd = 32.27) and angle alpha range was 8.37° to 26.49° (med = 17.7, sd = 4.93). According to values of angle alpha and strabismus deviation, five categories of visual aspect can be defined. Conclusions: According to the angle value, a confusion between the visual aspect and the ocular deviation measurement can modify the diagnosis of strabismus. Five categories of visual aspect could be described. Then, the digital assessment of the angle alpha is a new tool which combined to the PCT, will help the practitioner to the correct evaluation of the ocular deviation and the strabismus screening. [ABSTRACT FROM AUTHOR]

Purpose: Despite progress in management of open‐angle glaucoma, early diagnosis remains difficult due to delayed ophthalmologist consultation. Early glaucoma treatment avoids vision loss, thus developing automated detection methods is of importance for public health. We used supervised machine learning models on medical insurance claims data to identify at‐risk patient profiles that would benefit from undergoing glaucoma diagnosis, leading to early detection. Methods: Using medical claims records from a Swiss health insurance company, we identified a "glaucoma group" composed by 2700 patients (18–65 yo) with at least 3 years of historical data in the database and at least one year of medications for lowering intraocular pressure. To complete the training dataset, we randomly selected a "non‐glaucoma control group" (N = 2700) with same age range and medical criteria. Random Forest models were then trained using patient medical consumption data (e.g. number of drugs, number of consultations, ocular tests) in order to estimate individual's probability of having glaucoma based on medical claims records. Population was split into training set (70%) and test set (30%) to estimate the model prediction performance. Results: The mean age of population with glaucoma was 55.3 (SD: 11.3), and had an average of 1.96 (SD: 2.8) eye visits within the 3 years period prior to their first glaucoma prescription. t‐test showed significant association between consumption of eye products (e.g. artificial tears) during the two years prior to glaucoma medication. The Random Forest classifier accuracy computed on the test set (N = 1600) showed a positive predictive value of 78.5%, a negative predictive value of 79.2%. Sensitivity and specificity were of 79.4% and 77.2% respectively. Conclusions: To our knowledge, this study is the first to attempt estimating glaucoma probabilities from medical consumption invoice data. Our preliminary results show that using supervised machine learning algorithms could identify high‐risk patient profiles of glaucoma with an accuracy of almost 80%. These patients may benefit from an early ocular examination. Automated screening based on medical claims data could thus allow improving open‐angle glaucoma‐related health outcomes, minimizing serious vision loss, and reducing health costs. [ABSTRACT FROM AUTHOR]