Acceleration in the bilingual acquisition of phonological structure: evidence from Polish–English bilingual children

This study examines the production of consonant clusters in simultaneous Polish-English bilingual children and in language-matched English monolinguals (aged 7;01- 8;11). Selection of the language pair was based on the fact that Polish allows a greater range of phonologically complex cluster types than English. A nonword repetition task was devised in order to examine clusters of different types (obstruent-liquid vs. s + obstruent) and in different word positions (initial vs. medial), two factors that play a significant role in repetition accuracy in monolingual acquisition (e.g. Kirk & Demuth, 2005). Our findings show that bilingual children outperformed monolingual controls in the word initial s + obstruent condition. These results indicate that exposure to complex word initial clusters (in Polish) can accelerate the development of less phonologically complex clusters (in English). This constitutes significant new evidence that the facilitatory effects of bilingual acquisition extend to structural phonological domains

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment. Here we report on a stillborn patient delivered at 22 weeks of gestation who presented with severe skeletal symptoms comprising limb shortening and intrauterine fractures detected upon prenatal ultrasound and autopsy examination. Since post-mortem X-ray was refused and no phenotypic diagnosis could be attempted, we performed next-generation sequencing (NGS) of 2741 genes associated with all known Mendelian disorders. With this strategy, we were able to demonstrate the diagnosis at a molecular level, which turned out to be perinatal lethal hypophosphatasia (HPP). This severe form of HPP represents an inborn defect of ossification often resulting in stillbirth or postnatal death. The NGS panel revealed compound heterozygous ALPL missense mutations: c.1283G>C(p.Arg428Pro) and c.1363G>A(p.Gly455Ser). Mutations detected in our case, although previously described in other patients, have not been reported to co-occur in a single individual. The diagnosis established in our index using the NGS-based approach could have been successfully reached by standard radiography. Thus, our report points to the importance of X-ray examination in stillborn cases and highlights the emerging role of NGS strategies in the diagnostic process of prenatally manifesting skeletal disorders

Which DSM validated tools for diagnosing depression are usable in primary care research? A systematic literature review

IntroductionDepression occurs frequently in primary care. Its broad clinical variability makes it difficult to diagnose. This makes it essential that family practitioner (FP) researchers have validated tools to minimize bias in studies of everyday practice. Which tools validated against psychiatric examination, according to the major depression criteria of DSM-IV or 5, can be used for research purposes

What research agenda could be generated from the European General Practice Research Network concept of Multimorbidity in Family Practice?

This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: Multimorbidity is an intuitively appealing, yet challenging, concept for Family Medicine (FM). An EGPRN working group has published a comprehensive definition of the concept based on a systematic review of the literature which is closely linked to patient complexity and to the biopsychosocial model. This concept was identified by European Family Physicians (FPs) throughout Europe using 13 qualitative surveys. To further our understanding of the issues around multimorbidity, we needed to do innovative research to clarify this concept. The research question for this survey was: what research agenda could be generated for Family Medicine from the EGPRN concept of Multimorbidity? METHODS: Nominal group design with a purposive panel of experts in the field of multimorbidity. The nominal group worked through four phases: ideas generation phase, ideas recording phase, evaluation and analysis phase and a prioritization phase. RESULTS: Fifteen international experts participated. A research agenda was established, featuring 6 topics and 11 themes with their corresponding study designs. The highest priorities were given to the following topics: measuring multimorbidity and the impact of multimorbidity. In addition the experts stressed that the concept should be simplified. This would be best achieved by working in reverse: starting with the outcomes and working back to find the useful variables within the concept. CONCLUSION: The highest priority for future research on multimorbidity should be given to measuring multimorbidity and to simplifying the EGPRN model, using a pragmatic approach to determine the useful variables within the concept from its outcomes.The study had a Grant of 8000 Euros from the EGPRN

Duplication of 10q24 locus: broadening the clinical and radiological spectrum

Split-hand-split-foot malformation (SHFM) is a rare condition that occurs in 1 in 8500-25,000 newborns and accounts for 15% of all limb reduction defects. SHFM is heterogeneous and can be isolated, associated with other malformations, or syndromic. The mode of inheritance is mostly autosomal dominant with incomplete penetrance, but can be X-linked or autosomal recessive. Seven loci are currently known: SHFM1 at 7q21.2q22.1 (DLX5 gene), SHFM2 at Xq26, SHFM3 at 10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5 at 2q31 and SHFM6 as a result of variants in WNT10B (chromosome 12q13). Duplications at 17p13.3 are seen in SHFM when isolated or associated with long bone deficiency. Tandem genomic duplications at chromosome 10q24 involving at least the DACTYLIN gene are associated with SHFM3. No point variant in any of the genes residing within the region has been identified so far, but duplication of exon 1 of the BTRC gene may explain the phenotype, with likely complex alterations of gene regulation mechanisms that would impair limb morphogenesis. We report on 32 new index cases identified by array-CGH and/or by qPCR, including some prenatal ones, leading to termination for the most severe. Twenty-two cases were presenting with SHFM and 7 with monodactyly only. Three had an overlapping phenotype. Additional findings were identified in 5 (renal dysplasia, cutis aplasia, hypogonadism and agenesis of corpus callosum with hydrocephalus). We present their clinical and radiological findings and review the literature on this rearrangement that seems to be one of the most frequent cause of SHFM

One consensual depression diagnosis tool to serve many countries: a challenge! A RAND/UCLA methodology

Objective From a systematic literature review (SLR), it became clear that a consensually validated tool was needed by European General Practitioner (GP) researchers in order to allow multi-centred collaborative research, in daily practice, throughout Europe. Which diagnostic tool for depression, validated against psychiatric examination according to the DSM, would GPs select as the best for use in clinical research, taking into account the combination of effectiveness, reliability and ergonomics? A RAND/UCLA, which combines the qualities of the Delphi process and of the nominal group, was used. GP researchers from different European countries were selected. The SLR extracted tools were validated against the DSM. The Youden index was used as an effectiveness criterion and Cronbach’s alpha as a reliability criterion. Ergonomics data were extracted from the literature. Ergonomics were tested face-to-face. Results The SLR extracted 7 tools. Two instruments were considered sufficiently effective and reliable for use: the Hospital Anxiety and Depression Scale and the Hopkins Symptoms Checklist-25 (HSCL-25). After testing face-to-face, HSCL-25 was selected. A multicultural consensus on one diagnostic tool for depression was obtained for the HSCL-25. This tool will provide the opportunity to select homogeneous populations for European collaborative research in daily practice

Wpływ zróżnicowanego nawożenia azotem na skład chemiczny owoców oberżyny w uprawie polowej

Eggplant is a vegetable which deserves our interest owing to its high nutritive value and a wide range of possible cooking recipes. The biological value of this vegetable depends on several biotic and abiotic factors. The aim of this research has been to determine the effect of nitrogen fertilization methods on the quality of eggplant fruits. Application of ammonium sulphate, ammonium nitrate and Entec 26, a slow-release fertilizer containing a nitrification inhibitor, was tested in a three–factorial experiment. The fertilizers were applied once, before planting, making use of the whole dose (100, 150 and 200 kg N ha–1), or twice, divided into a dose given before the growing period and another one supplied as top dressing (75+25, 100+50, 100+100 kg N ha–1). The eggplant fruits contained on average 6.80% – 8.06% of dry matter, 1.85-2.48% of reducing sugars and 2.00- -2.56% of total sugars, 10.58 mg 100 g–1 f.m. of vitamin C, 4.27-6.56 mg 100 g–1 f.m. of anthocyanins, 50.70-71.06 mg 100 g–1 f.m. of polyphenols. The mean content of P in dry matter was 0.33%, K – 3.99%, Mg – 0.25% and Ca – 0.25%. Significant differences in the quality of eggplant fruits were demonstrated between particular years of cultivation. The biological value of eggplant fruits did not depend on the method of nitrogen fertilization

The concept of alteration and management of sewage sludge at the sewage treatment plant in Szamotuły

Under applicable law (The Act on Fertilizers and Fertilization 2007) sewage sludge produced in wastewater treatment plants is treated as waste. The article presents 5 variants of alteration and management of sewage sludge from the wastewater treatment plant in Szamotuły. Some of them include the use of green mass that can be obtained as a result of urban greenery maintenance works. For the purpose of this article there was carried out a quantitative balance of sludge, taking into account different degrees of its hydration. There were also discussed the results of an experiment conducted on the semi-technical scale. The drying process took place under a plastic tunnel with a length of 10 m. Two series of sludge drying at different outdoor temperatures were carried out. The sludge drying time in conditions of high ambient temperatures (24-36˚C) was 18 days. There was also determined the dependance between hydration and drying time at lower temperatures. In the final analysis, there were employed two basic methods of sludge treatment: solar drying and composting. The introduction of new solutions removes numerous existing sludge disposal costs. The benefits will consist in the elimination of sludge disposal costs or sludge hygienisation costs

Zawartosc Fe, Mn, Zn, Cu w lisciach selera podczas uprawy w zaleznosci od poziomu nawozenia gleby opadowo-glejowej

W przeprowadzonych badaniach podjęto próbę określenia wpływu zastosowanych dawek kg NPK·ha⁻¹ (I-0 NPK; II - 75+33 + 100; III - 150+66+200) na zawartość niektórych mikroelementów w glebie i liściach selera korzeniowego (odmiana Diamant) w drugim roku uprawy po sobie. Doświadczenie mikropoletkowe rozpoczęte w 1994 roku i kontynuowane w 1995 założono na glebie opadowo-glejowej właściwej o zróżnicowanym w profilu składzie granulometrycznym. Zbiorcze próbki materiału glebowego i liści roślin pobrane w trakcie uprawy stanowiły materiał badawczy. Wykazano, iż wzrost nawożenia NPK istotnie wpłynął na zawartość Fe w glebie i Zn w liściach selera korzeniowego. W okresie wegetacji istotnie zmieniała się zawartość Fe, Mn, Zn w powierzchniowej (0-10 cm) warstwie gleby, a Fe, Mn, Cu w liściach selera korzeniowego.An attempt to evaluating how recommended rates of NPK kg·ha⁻¹ fertilizers (I - 0 NPK, II - 75 + 33 + 100, III - 150+66+200) affected the content of some microelements in soil and root-celery leaves (Diamant cultivar) in second year of year after year cultivation was the aim of study. Micro-plot experiment began in 1994 year and continued in 1995 year was established on pseudogley soil of differentiated granulometric composition in soil profile. Composite samples of soil material and plant leaves taken during cultivation were analyzed. Increase of NPK fertilization significantly affected the content of Fe in soil and Zn in root-celery leaves. During vegetation period significantly changed the content of Fe, Mn and Zn in surface soil (0-10 cm) layer and Fe, Mn and Cu in root- celery leaves