The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.

Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. The disease is clinically silent at birth and in infancy. It manifests between the age of 3 and 6 years with joint pain and progressive joint stiffness. Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help. Bony enlargement at the interphalangeal joints progresses leading to camptodactyly. Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. Radiographic signs are relatively mild. Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. The femoral heads are large and the acetabulum forms a distinct "lip" overriding the femoral head. There is a progressive narrowing of all articular spaces as articular cartilage is lost. Medical management of PPRD remains symptomatic and relies on pain medication. Hip joint replacement surgery in early adulthood is effective in reducing pain and maintaining mobility and can be recommended. Subsequent knee joint replacement is a further option. Mutation analysis of WISP3 allowed the confirmation of the diagnosis in 63 out of 64 typical cases in our series. Intronic mutations in WISP3 leading to splicing aberrations can be detected only in cDNA from fibroblasts and therefore a skin biopsy is indicated when genomic analysis fails to reveal mutations in individuals with otherwise typical signs and symptoms. In spite of the first symptoms appearing in early childhood, the diagnosis of PPRD is most often made only in the second decade and affected children often receive unnecessary anti-inflammatory and immunosuppressive treatments. Increasing awareness of PPRD appears to be essential to allow for a timely diagnosis. © 2012 Wiley Periodicals, Inc.

Barley development as affected by rate of change of photoperiod

The rate of leaf appearance of barley varies substantially with time of sowing. This variation has been related to both the length and the rate of change of photoperiod at the time of plant emergence. An outdoor pot experiment was conducted to test if rate of change of photoperiod directly affects phasic development and rate of leaf emergence of spring barley. Two photoperiod-sensitive cultivars (Bandulla and Galleon) were subjected to five photoperiod regimes: two constant photoperiods, of 14 and 15·5 h, and three different rates of change of photoperiod of c. 2, 9 and 13 min/day from seedling emergence to awn initiation. Photoperiod treatments significantly affected the duration from seedling emergence to awn initiation in both cultivars. Rate of change of photoperiod did not affect the rate of development towards awn initiation independently of the absolute daylength it produced. Although Bandulla had a longer duration than Galleon at any photoperiod regime, the cultivars did not vary in their sensitivity to photoperiod. When this phase was divided into the leaf initiation (LI) and spikelet initiation (SI) phases, it was evident that the sensitivity to photoperiod was not constant, being in general higher during the SI than during the LI phase. However, the magnitude of the change in sensitivity was cultivar-dependent, indicating that sensitivity to photoperiod during the different phases could be under independent genetic control. Final numbers of primordia (leaves together with maximum spikelet number) were negatively affected by increasing photoperiods, but once again, there was no evidence of any effect of the rate of change of photoperiod which was independent of the average photoperiod. Both cultivars showed similar sensitivities for final leaf number but maximum spikelet number was more sensitive to photoperiod in Galleon than in Bandulla. Highly significant linear relationships between leaf number and thermal time were found for all combinations of cultivars and photoperiod regimes (r2 > 0·98). The rate of leaf appearance (RLA) was similar for both cultivars (c. 0·0185 leaves/°Cd) and did not alter during plant development or in response to the change in photoperiod at awn initiation. The range in RLA was greater for Galleon (0·0170–0·0205 leaves/°Cd) than for Bandulla (0·0173–0·0186 leaves/°Cd). Neither of these cultivars exhibited a significant relationship between rate of leaf emergence and photoperiod or rate of change of photoperiod. The lack of significant relationships between RLA and length or rate of change of photoperiod is in contrast with previous reports using time of sowing as a main treatment.

Seedling development and biomass as affected by seed size and morphology in durum wheat

This work evaluated the effect of seed size and morphology on the development and biomass of durum wheat seedlings. Three different seed-grading sizes selected by sieving were used in glasshouse experiments, and a set of three developmental and 23 biomass-related indices were measured on eight genotypes, at two moisture levels. The influence of seed size on seedling development was studied at high and low temperatures (22\12 mC, and 15\5 mC day\night temperatures, respectively), in growth chambers. The area of the seed and the area of the embryo were the seed morphological traits most affected by seed size. Seed size was strongly associated with seedling development and seedling biomass until the complete extension of the first two leaves, at the fourth leaf stage. The rate of first-leaf growth and the area of the first leaf were the developmental and biomass traits, respectively, most sensitive to seed-grading size.

Growth of lulo (Solanum quitoense Lam.) plants affected by salinity and substrate

The effects of 0, 30 and 60 mM NaCl and substrates (red peat, sand or 3:1:1 [w/w] mixture of peat, sand, or soil) on vegetative growth of lulo, an Andean fruit species, during 12 weeks were studied. The experiment was carried out by using 2000 cm³ of polypropylene plastic pots under greenhouse conditions. Plant height, number of leaves and nodes, leaf area, total plant dry matter (DM), and shoot/root ratio were evaluated. With the increase of salt concentration, the plant height, the number of leaves and nodes, the leaf areas and plant dry mass DM decreased, whereas shoot/root ratio increased. Sand grown lulo plants were most affected by salinity and presented total mortality at 60 mM NaCl. On the other hand, plants held either in peat or in substrate mixture developed larger height, greater leaf and node numbers, higher leaf area and dry matter content. Shoot/root ratio in control (soil) and sand-grown plants (30 mM NaCl) was lower.

Pineapple (Ananas comosus) cv. pérola ex vitro growth and mycorrhizal colonization affected by in vitro sucrose concentration

The aim of this study was to evaluate the effect of sucrose concentration in the culture medium on growth and on the establishment of mycorrhizas during the acclimatization of pineapple cv. Pérola. The plantlets were micropropagated in MS culture medium with 0, 10, 20 and 30 g L-1 of sucrose and then they were acclimatized during 12 weeks under greenhouse conditions, in a sandy soil - compost mixture, uninoculated or inoculated with a Rhizophagus clarus isolate. Plantlets from the culture medium with 20 g and 30 g of sucrose L-1 showed higher shoot and root biomass than those from sugar-free medium. Mycorrhizal colonization was lower in plantlets micropropagated in sucrose-free medium, but the intensity of arbuscules did not differ among treatments. In the 12-week period of acclimatization, mycorrhizal colonization had no effect on plant biomass.

GROWTH, YIELD AND POSTHARVEST QUALITY OF WAX APPLE AS AFFECTED BY NAPHTHALENE ACETIC ACID APPLICATION

Results of this study represent the first report of the effect of Naphthalene Acetic Acid (NAA) on the pre and post harvest quality of wax apple fruit. The wax apple trees were spray treated with 0, 5, 10 and 20 mg L-1 NAA under field conditions during 2008 to 2011. The experiments were carried out in Completely Randomized Design (CRD) with six replications. Leaf chlorophyll content, chlorophyll fluorescence, photosynthetic yield, net photosynthetic rate, drymatter content of leaves and total soluble solids and K+content of wax apple fruits were significantly increased after treatments with 10 mg L-1. Polygalacturonase activity significantly decreased with NAA treatments. The application of 5 mg L-1 NAA increased 27% more bud and reduced 42% less fruit drop compared to the control. In addition, higher protein and phosphate synthase activity of leaves, fruit set, fruit growth, larger fruit size and yield were recorded in NAA treated plants. In storage, treated fruits exhibited higher TSS and firmness and less weight loss, browning, titratable acidity, respiration and ethylene production than the control. It is concluded that spraying with 5 and 10 mg L-1 NAA once a week under field conditions produced better fruit growth and yield of the wax apple and maintained better fruit quality in postharvest storage.

La caries del biberón. Qué es y cómo prevenirla

La caries del biberón es la aparición brusca de caries en los incisivos y molares temporales, relacionadas con el hábito de succionar el chupete o el biberón, impregnados de sustancias cariogénicas. Afecta a los niños en las primeras etapas de la vida. Los dientes de leche son fundamentales para diferentes funciones como la masticación y el habla. Este trabajo revisa cuáles son sus causas más comunes y las medidas preventivas más indicadas.

Early childhood caries in Switzerland: a marker of social inequalities.

BACKGROUND: Early childhood caries (ECC) is a marker of social inequalities worldwide because disadvantaged children are more likely to develop caries than their peers. This study aimed to define the ECC prevalence among children living in French-speaking Switzerland, where data on this topic were scarce, and to assess whether ECC was an early marker of social inequalities in this country. METHODS: The study took place between 2010 and 2012 in the primary care facility of Lausanne Children's Hospital. We clinically screened 856 children from 36 to 71 months old for ECC, and their caregivers (parents or legal guardians) filled in a questionnaire including items on socioeconomic background (education, occupation, income, literacy and immigration status), dental care and dietary habits. Prevalence rates, prevalence ratios and logistic regressions were calculated. RESULTS: The overall ECC prevalence was 24.8 %. ECC was less frequent among children from higher socioeconomic backgrounds than children from lower ones (prevalence ratios ≤ 0.58). CONCLUSIONS: This study reported a worrying prevalence rate of ECC among children from 36 to 71 months old, living in French-speaking Switzerland. ECC appears to be a good marker of social inequalities as disadvantaged children, whether from Swiss or immigrant backgrounds, were more likely to have caries than their less disadvantaged peers. Specific preventive interventions regarding ECC are needed for all disadvantaged children, whether immigrants or Swiss.

Meta-analysis of the influence of bonding parameters on the clinical outcome of tooth-colored cervical restorations

PURPOSE: To meta-analyze the literature on the clinical performance of Class V restorations to assess the factors that influence retention, marginal integrity, and marginal discoloration of cervical lesions restored with composite resins, glass-ionomer-cement-based materials [glass-ionomer cement (GIC) and resin-modified glass ionomers (RMGICs)], and polyacid-modified resin composites (PMRC). MATERIALS AND METHODS: The English literature was searched (MEDLINE and SCOPUS) for prospective clinical trials on cervical restorations with an observation period of at least 18 months. The studies had to report about retention, marginal discoloration, marginal integrity, and marginal caries and include a description of the operative technique (beveling of enamel, roughening of dentin, type of isolation). Eighty-one studies involving 185 experiments for 47 adhesives matched the inclusion criteria. The statistical analysis was carried out by using the following linear mixed model: log (-log (Y /100)) = β + α log(T ) + error with β = log(λ), where β is a summary measure of the non-linear deterioration occurring in each experiment, including a random study effect. RESULTS: On average, 12.3% of the cervical restorations were lost, 27.9% exhibited marginal discoloration, and 34.6% exhibited deterioration of marginal integrity after 5 years. The calculation of the clinical index was 17.4% of failures after 5 years and 32.3% after 8 years. A higher variability was found for retention loss and marginal discoloration. Hardly any secondary caries lesions were detected, even in the experiments with a follow-up time longer than 8 years. Restorations placed using rubber-dam in teeth whose dentin was roughened showed a statistically significantly higher retention rate than those placed in teeth with unprepared dentin or without rubber-dam (p < 0.05). However, enamel beveling had no influence on any of the examined variables. Significant differences were found between pairs of adhesive systems and also between pairs of classes of adhesive systems. One-step self-etching had a significantly worse clinically index than two-step self-etching and three-step etch-and-rinse (p = 0.026 and p = 0.002, respectively). CONCLUSION: The clinical performance is significantly influenced by the type of adhesive system and/or the adhesive class to which the system belongs. Whether the dentin/enamel is roughened or not and whether rubberdam isolation is used or not also significantly influenced the clinical performance. Composite resin restorations placed with two-step self-etching and three-step etch-and-rinse adhesive systems should be preferred over onestep self-etching adhesive systems, GIC-based materials, and PMRCs.

Monitoring spatial and temporal dynamics of bird communities in Mediterranean landscapes affected by largewildfires = Seguimiento de la dinámica espacial y temporal de comunidades de aves en paisajes mediterráneos afectados por grandes fuegos

We presented a bird-monitoring database inMediterranean landscapes (Catalonia, NE Spain) affected by wildfires and we evaluated: 1) the spatial and temporal variability in the bird community composition and 2) the influence of pre-fire habitat configuration in the composition of bird communities. The DINDIS database results fromthemonitoring of bird communities occupying all areas affected by large wildfires in Catalonia since 2000.We used bird surveys conducted from 2006 to 2009 and performed a principal components analysis to describe two main gradients of variation in the composition of bird communities, which were used as descriptors of bird communities in subsequent analyses. We then analysed the relationships of these community descriptors with bioclimatic regions within Catalonia, time since fire and pre-fire vegetation (forest or shrubland).We have conducted 1,918 bird surveys in 567 transects distributed in 56 burnt areas. Eight out of the twenty most common detected species have an unfavourable conservation status, most of them being associated to open-habitats. Both bird communities’ descriptors had a strong regional component and were related to pre-fire vegetation, and to a lesser extent to the time since fire.We came to the conclusion that the responses of bird communities to wildfires are heterogeneous, complex and context dependent. Large-scale monitoring datasets, such as DINDIS, might allow identifying factors acting at different spatial and temporal scales that affect the dynamics of species and communities, giving additional information on the causes under general trends observed using other monitoring systems

An affected core drives network integration deficits of the structural connectome in 22q11.2 deletion syndrome.

Chromosome 22q11.2 deletion syndrome (22q11DS) is a genetic disease known to lead to cerebral structural alterations, which we study using the framework of the macroscopic white-matter connectome. We create weighted connectomes of 44 patients with 22q11DS and 44 healthy controls using diffusion tensor magnetic resonance imaging, and perform a weighted graph theoretical analysis. After confirming global network integration deficits in 22q11DS (previously identified using binary connectomes), we identify the spatial distribution of regions responsible for global deficits. Next, we further characterize the dysconnectivity of the deficient regions in terms of sub-network properties, and investigate their relevance with respect to clinical profiles. We define the subset of regions with decreased nodal integration (evaluated using the closeness centrality measure) as the affected core (A-core) of the 22q11DS structural connectome. A-core regions are broadly bilaterally symmetric and consist of numerous network hubs - chiefly parietal and frontal cortical, as well as subcortical regions. Using a simulated lesion approach, we demonstrate that these core regions and their connections are particularly important to efficient network communication. Moreover, these regions are generally densely connected, but less so in 22q11DS. These specific disturbances are associated to a rerouting of shortest network paths that circumvent the A-core in 22q11DS, "de-centralizing" the network. Finally, the efficiency and mean connectivity strength of an orbito-frontal/cingulate circuit, included in the affected regions, correlate negatively with the extent of negative symptoms in 22q11DS patients, revealing the clinical relevance of present findings. The identified A-core overlaps numerous regions previously identified as affected in 22q11DS as well as in schizophrenia, which approximately 30-40% of 22q11DS patients develop.

Cumulative Costs of Caries Prevention and Treatment in Children - with Special Reference to Work Division and Cohort Effect

Lapsen karieshoidon kustannuskertymän muutokset ja karieshoidon toimintakäytäntöjen yhteys kustannuksiin Tutkimuksen tavoitteena oli mitata terveyskeskuksessa hoidettavien lasten karieshoidon kumulatiivisia kustannuksia ja verrata niitä kahden erilaisen toimintatavan välillä. Lisäksi tarkasteltiin lasten hampaiden terveyttä. Tutkimus tehtiin julkisen palvelutuottajan näkökulmasta. Tutkimusaineisto kerättiin Kemin ja Tornion terveyskeskusten suun terveydenhuollon potilaskertomuksista. Kemin kohortit 1980, 1983 ja 1986 (n = 600) ja Tornion kohortit 1980 ja 1992 (n = 400) edustivat perinteistä ja Kemin kohortit 1989, 1992 ja 1995 (n = 600) uutta toimintatapaa työnjaon ja ehkäisyn ajoituksen suhteen. Kohortteja ja kaupunkeja verrattiin hampaiden terveyden (dmft/DMFT = 0 ja dmft ja DMFT keskiarvot 5 ja 12 vuoden iässä) ja voimavarojen käytön suhteen. Panoskäyttö johdettiin käyntimäärien avulla laskennallisen työajan kautta. Kustannuskertymät muodostettiin käyttämällä henkilöstömenoista laskettuja suorittajakohtaisia yksikkökustannuksia. Panoskäytön ja yksikkökustannusten kautta muodostettiin kustannuskertymät. Kustannusten ja terveysvaikutusten suhteita arvioitiin kustannus-vaikuttavuusanalyysissä. Suuhygienistien työpanosta hyödyntävällä varhaisen ehkäisyn toimintamallilla saavutettiin vähäisemmin kustannuksin alle kouluiässä parempi ja kouluiässä yhtä hyvä hammasterveys kuin perinteisellä, enemmän hammaslääkärien työpanokseen perustuvalla tavalla. Karieksen hoitoon liittyvien käyntien määrä oli nuorimmissa syntymävuosikohorteissa pienempi kuin vanhimmissa kohorteissa. Käynnit hammaslääkärissä vähenivät eniten. Toimintatavalla oli merkittävä vaikutus lapsen karieshoidon kokonaiskustannuksiin. Herkkyysanalyysin mukaan karieshoidon kustannukset olivat työnjakoa hyödyntämällä kolmanneksen pienemmät, kuin jos hoidon suorittajana olisi ollut ainoastaan hammaslääkäri-hoitaja työpari. Lasten karieshoidon kustannusvaikuttavuus kohentui molemmissa terveyskeskuksissa nuoremmissa kohorteissa vanhempiin verrattuna. Suun terveydenhuollon potilaskertomuksia olisi hyödynnettävä toiminnan kehittämisessä. Varhaisen ehkäisyn avulla voitaisiin kaikkien suun terveydenhuollon ammattihenkilöiden työpanos kohdentaa kustannustehokkaasti.

Yield in double cropping system as affected by N fertilization rate with pig slurry in a Catalonia dryland region

Intensive swine production is an important agricultural and economical activity in Europe. The high availability of pig slurry (PS) lead to attractive fertilization strategy to reduce costs, therefore is mainly applied as fertilizer in agricultural systems. The optimization N fertilization in these areas should be taken in into to avoid nitrates losses by lixiviation and to achieve maximum efficiency in crop nutrition. Many studies have shown that PS applications can achieve satisfactory yields in different crops by partially or completely replacing synthetic fertilizers. In addition, for the last years, in Northeast Spain (Catalonia) has been widely extended the double-cropping forage system.