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Large gene deletions and duplications were analyzed in 59 unrelated phenylketonuria (PKU) patients negative for phenylalanine hydroxylase (PAH) mutations on one or both alleles from previous exon by exon analysis. Using the novel multiplex ligation-dependent probe amplification (MLPA) method, a total of 31 partial PAH deletions involving single exons were identified in 31 PKU patients. Nineteen cases exhibited deletion of exon 5, and 12 cases provided evidence for the deletion of exon 3. Subsequently, using restriction enzyme digestion and DNA sequencing, three different large deletions, EX3del4765 (12 cases), EX5del955 (2 cases) and EX5del4232ins268 (17 cases) were identified and confirmed by long-range PCR and by the analysis of aberrant transcripts. Altogether, the 31 large deletions presented account for 3% of all PAH mutant alleles investigated in Czech PKU patients. Bioinformatic analysis of three breakpoints showed that the mutation EX3del4765 had arisen through an Alu-Alu homologous recombination, whereas two other mutations-the EX5del955 and EX5del4232ins268, had been created by a non-homologous end joining (NHEJ). We conclude that MLPA is a convenient, rapid and reliable method for detection of intragenic deletions in the PAH gene and that a relatively high number of alleles with large deletions are present in the Slavic PKU population.

AbstractNovel liquid crystalline photochromic materials of the type 4‐R‐C6H4‐N=N‐C6H4‐O(CH2)n‐N(CH2CH2OH)2, where R is NO2, H, CN, O‐n‐C8H17, phenyl, 4‐O2NC6H4, were prepared. Some of them are photoconductive. These materials were used for the preparation of light‐sensitive polymers in which the photoactive moieties were attached to polyurethane chain. Photochromism of these compounds is based on trans‐cis isomerization of azobenzene group. An example of the photochromic activity is presented on solid solution of one material (R = O‐n‐C8H17, n = 5) in poly(methyl methacrylate) matrix.

Influence of a Crude Hypothalamic Extract on the Acid Phosphatase Activity of Rat Pituitaries

In this paper of the measurements internal friction of iron whiskers are described; a torsion pendulum was especially adapted for this purpose. It was found that the internal friction of whiskers having larger diameter than 10 μm was usually amplitude dependent. This amplitude dependence approximatively fits the Granato-Lucke theory of dislocation damping. The effects of plastic deformation and its recovery in iron whiskers were also studied. The results and their discussion lead to the assumption that during the recovery an important role is played either by the interaction of dislocations with vacancies, or by the interaction of dislocation dipoles with the impurity atoms.

article i nfo This paper deals with a simple and low-cost method developed to deposit hematite (α-Fe2O3) layers on a fluorine-doped tin oxide (FTO/F:SnO2) substrate by thermal decomposition of solid iron(III) chloride hexahydrate (FeCl3⋅6H2O). Deposition procedure takes place through chemical intermediate iron(III) oxide chloride (FeOCl) film. A crucial influence of atmosphere dynamics involved in the calcination process of FeOCl has been observed. As-deposited films were characterized by means of Conversion Electron Mossbauer Spectroscopy (CEMS), Grazing Angle X-Ray Diffractometry (GAXRD), Atomic Force Microscopy (AFM), Scanning Electron Microscopy (SEM) and Energy Dispersive X-ray (EDX) analysis. Final nanocrystalline hematite film with a cactus-field-like design consists of 20 nm thick porous crystal plates. A process of hematite doping by tin atoms from substrate coating is also discussed.

Pattern-based verification checks the correctness of program executions that follow a given pattern , a regular expression over the alphabet of program transitions of the form w 1 * … w n * . For multithreaded programs, the alphabet of the pattern is given by the reads and writes to the shared storage. We study the complexity of pattern-based verification for multithreaded programs with shared counters and finite variables. While unrestricted verification is undecidable for abstracted multithreaded programs with recursive procedures and PSPACE-complete for abstracted multithreaded while-programs (even without counters), we show that pattern-based verification is NP-complete for both classes, even in the presence of counters. We then conduct a multiparameter analysis to study the complexity of the problem on its three natural parameters (number of threads+counters+variables, maximal size of a thread, size of the pattern) and on two parameters related to thread structure (maximal number of procedures per thread and longest simple path of procedure calls). We present an algorithm that for a fixed number of threads, counters, variables, and pattern size solves the verification problem in st O ( lsp + ⌈ log ( pr +1) ⌉) time, where st is the maximal size of a thread, pr is the maximal number of procedures per thread, and lsp is the longest simple path of procedure calls.

Metabolic liver function is significantly decreased in patients with advanced chronic heart failure (CHF). The purpose of the study was to evaluate correlation of NT-proBNP with metabolic liver function as assessed with (13)C-methacetin breath test in patients with acute decompensation of chronic heart failure (ADHF). NT-proBNP, (13)C-methacetin breath test and investigation of other biochemical parameters were realized on days 0-2 (V1) and 2-7 (V2) after hospital admission in 13 consecutive ADHF patients. NT-proBNP and metabolic liver function as assessed with (13)C-methacetin breath test didn't change in the first days after hospital admission in ADHF patients. Correlation of NT-proBNP with the degree of metabolic liver function impairement was not significant. The study revealed significant correlation of NT-proBNP with serum ceruloplasmin and significant inverse correlation of liver function with total iron binding capacity in patients with ADHF. The results of this pilot study should be confirmed in a study with larger patient population.

Patients with cystic fibrosis (CF) are underweight and growth retarded. This study tested the link between serum insulin‐like growth factor‐I (IGF‐I) and insulin‐like growth factor‐binding protein‐3 (IGFBP‐3) levels and body height, nutritional status, pulmonary function tests and activity of inflammation in 92 subjects with CF (age 2.1–18.8 y). It also analysed the effect of short‐term antibiotic treatment and hyperalimentation on IGF‐I and IGFBP‐3 levels in 33 subjects (age 3.6–33.7 y) on 41 occasions. Both IGF‐I (‐1.19 ±0.17 SD) and IGFBP‐3 levels (‐0.66 ±0.12 SD; both p 0.0001 vs 0) were decreased in cross‐sectional measurements. Their standardized values were inversely proportional to age (IGF‐I: r= ‐0.23, p= 0.03; IGFBP‐3: r= ‐0.29, p= 0.005) and positively correlated with SDS of height (IGF‐I: r= 0.40, p 0.0001; IGFBP‐3: r= 0.36, p= 0.0005) and of mid‐arm circumference (IGF‐I: r= 0.39, p= 0.0001; IGFBP‐3: r= 0.38, p= 0.0002), and with pulmonary function tests. After a short‐term course of intensive antibiotic therapy and hyperalimentation, IGF‐I normalized (from ‐0.66 ± 0.20 to 0.00 ± 0.25 SD; pľ 0 0001) and IGFBP‐3 increased (from ‐0.78 ± 0.15 to ‐0.53 ± 0.16 SD; p= 0.002). IGFBP‐3 correlated inversely with erythrocyte sedimentation rate (r= ‐0.40, p= 0.01).Conclusion: The levels of IGF‐I and IGFBP‐3 are markedly decreased in patients with CF and tend to normalise after a short course of antibiotic treatment and hyperalimentation.

As curricular reforms are implemented, there is often urgency among scholars to swiftly evaluate curricular outcomes and establish whether desired impacts have been realized. Consequently, many evaluative studies focus on summative program outcomes without accompanying evaluations of implementation. This runs the risk of Type III errors, whereby outcome evaluations rest on unverified assumptions about the appropriate implementation of prescribed curricular activities. Such errors challenge the usefulness of the evaluative studies, casting doubt on accumulated knowledge about curricular innovations, and posing problems for educational systems working to mobilize scarce resources. Unfortunately, however, there is long-standing inattention to the evaluation of implementation in health professions education (HPE). To address this, we propose an accessible framework that provides substantive guidance for evaluative research on implementation of curricular innovations. The Prescribed-Intended-Enacted-Sustainable (PIES) framework that is articulated in this paper, introduces new concepts to HPE-with a view to facilitating more nuanced examination of the evolution of curricula as they are implemented. Critically, the framework is theoretically grounded, integrating evaluation and implementation science as well as education theory. It outlines when, how, and why evaluators need to direct attention to curricular implementation, providing guidance on how programs can map out meaningful evaluative research agendas. Ultimately, this work is intended to support evaluators and educators, seeking to design evaluation studies that provide more faithful, useful representations of the intricacies of curricular change implementation.