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Background: Clinical evidence suggests that curcuminoids, as a natural polyphenol, can provide support for cardioprotection and glucose metabolism. This meta‐analysis assessed the efficacy and safety of curcumin with respect to improving glucose metabolism in patients with cardiovascular risk factors. Methods: Four databases (PubMed, Cochrane Library, Web of Science and Embase) were searched up to June 2018. The inclusion criteria included (i) randomised controlled trials (RCT) and (ii) subjects with risk factors for cardiovascular disease supplemented with curcumin and curcuminoids. A random‐effects model and a standardised mean difference with a 95% confidence interval were used to perform quantitative data synthesis. Sensitivity and subgroup analyses were conducted to assess the effects. Results: Fourteen eligible RCT with 1277 subjects were included. In the overall analyses, curcumin led to significant decreases in fasting blood glucose (FBG), glycated haemoglobin (HbA1c) and homeostatic model assessment of insulin resistance (HOMA‐IR). The subgroup analyses suggested that curcumin or combined curcuminoids were more effective at reducing FBG and HbA1c in type 2 diabetes patients than in individuals with metabolic syndrome. Supplementation with curcuminoids at doses ≥300 mg day−1 showed significant decreases in FBG, HbA1c and HOMA‐IR. The effects of supplementation on FBG, HbA1c and HOMA‐IR were more significant over long periods (≥12 weeks) than short periods. Curcumin and curcuminoids were well tolerated, with no serious adverse events. Conclusions: Curcumin or combined curcuminoids could exert cardioprotective effects in patients at risk for cardiovascular disease by improving glucose metabolism. However, further high‐quality studies and larger sample sizes are required to confirm these results. [ABSTRACT FROM AUTHOR]

The medicinal plant Sophora tonkinensis is a characteristic Chinese shrub of karst areas. The arid climate in karst areas produces high‐quality S. tonkinensis; however, the mechanisms of drought tolerance are not clear, which restricts sustainable plantings of S. tonkinensis.This study involved a 20‐day drought stress experiment with potted S. tonkinensis and threee soil water regimes: control (CK), mild drought (MDT), and severe drought (SDT). Plant morphology, biomass, physiological indicators, alkaloid content, and other changes under drought stress were monitored.The content of soluble sugars and proteins, and activity of antioxidant enzymes in leaves and roots were higher under drought than CK, indicating that S. tonkinensis is tolerant to osmotic stress in early drought stages. Content of matrine and oxymatrine increased gradually with increasing drought duration in the short term. The epidermis of S. tonkinensis leaves have characteristics of desert plants, including upper epidermal waxy layer, lower epidermal villi, and relatively sunken stomata, suggesting that S. tonkinensis has strong drought tolerance.In conclusion, drought stress changed the cell structure of S. tonkinensis, induced antioxidant enzyme activity and increased its resistance to drought. [ABSTRACT FROM AUTHOR]

In this Letter, a field programmable gate array (FPGA)-based synchronising control system design for spinning disk confocal image scanning microscope is described. Based on the analysis on the condition of laser triggering, the author simplifies the design by transforming the floating-point calculation formula to a very simple form of integer calculation, which can then be implemented by fixed-point calculation on FPGA without trimming any bit, for which there is no computational precision loss. The testing of simulation and experiment shows that the design is very accurate and reliable. [ABSTRACT FROM AUTHOR]

In this Letter, a field programmable gate array (FPGA)‐based synchronising control system design for spinning disk confocal image scanning microscope is described. Based on the analysis on the condition of laser triggering, the author simplifies the design by transforming the floating‐point calculation formula to a very simple form of integer calculation, which can then be implemented by fixed‐point calculation on FPGA without trimming any bit, for which there is no computational precision loss. The testing of simulation and experiment shows that the design is very accurate and reliable. [ABSTRACT FROM AUTHOR]

Summary: This study investigated the effect of dietary fibre (DF) supplementation on hepatic fat deposition of Cherry Valley meat ducks. A total of 600 1‐d‐old ducks were randomly allotted to five dietary fibre diets (1.46 (basal diet), 3.09, 4.15, 6.18 and 7.52% (analysed)) for 14 days. Growth performance decreased with increasing DF concentrations, when the DF level more than 6.18% the average daily gain (ADG) and feed conversion ratio (F/G) markedly decreased in meat ducks. Meat ducks supplemented over 4.15% DF had lower percentage of liver reported to live weight, liver lipid contents, hepatic triglyceride and total cholesterol concentrations as well as decreased serum aspartate aminotransferase (AST) and alanine aminotransferase (ALT) concentrations at 14 days. The transcription of fatty acid synthase (FAS), acetyl‐CoA carboxylase (ACC) and sterol‐regulatory element‐binding protein‐1 (SREBP‐1) in liver was significantly reduced by DF, while no any significant difference was found about the effect of DF on hepatic peroxisome proliferator‐activated receptor α (PPARα), adipose triglyceride lipase (ATGL), transcription as well as caecal digesta short‐chain fatty acids (SCFA). Data suggested that dietary fibre supplementation decreased hepatic lipid deposition and improved characteristics of liver health via inhibiting hepatic FAS, ACC and SREBP‐1 expression in meat ducks. [ABSTRACT FROM AUTHOR]

This study was conducted to investigate the effects of dietary rapeseed meal ( RSM) inclusion levels on growth performance, organ health and standardized ileal amino acid digestibility ( SIAAD) in meat ducks from 15 to 35 days of age. Six hundred and eighty 15-days-old ducks were randomly allotted to five treatments based on body weight. Five isonitrogenous and isoenergetic diets were formulated on a digestible amino acid basis by replacing 0% (the control), 25%, 50%, 75% and 100% (based on fresh) of protein from soya bean meal ( SBM) with protein from RSM. The corresponding levels of RSM in experimental diets were 0%, 6.66%, 13.32%, 19.98% and 26.64% respectively. With increasing dietary RSM levels, body weight ( BW) and average daily gain ( ADG) linearly decreased (p < 0.001), whereas feed-to-gain ratio (F: G) linearly increased (p = 0.0078). Ducks fed the diets with 13.32% or more RSM had significantly lower (p < 0.05) BW, ADG and ADFI, or higher F: G than ducks fed the control diet. The maximum limit of dietary RSM supplementation was estimated to range from 4.27% to maximize ADG for 15 to 35 days to 11.69% to maintain feed intake for 15 to 35 days on the basis of a broken-line model. At day35, the 4th primary wing feather length and SIAAD (except for Met, Thr and Val) linearly decreased (p < 0.001), and the thyroid glands weight (% of BW) linearly increased (p < 0.05) with increasing dietary RSM levels. Ducks fed the RSM inclusion diets had significantly lower (p < 0.0001) serum aspartate aminotransferase ( AST) and alanine transaminase ( ALT) activities than ducks fed the control diet. These results suggested that the maximum limit of dietary RSM containing 7.57 μmol/g glucosinolates was estimated to be 4.27% to avoid growth reduction. [ABSTRACT FROM AUTHOR]

Background There are only three cases of unbalanced translocation (X;1) reported in childhood in the literature, while no such phenotypic information is available in adults. Materials and methods To delineate the phenotype–genotype relationship of unbalanced translocation (X;1) in adulthood, we reported here a 20-year-old female with an unbalanced translocation (X;1) which was determined by spectral karyotyping, array-comparative genomic hybridization and subtelomeric fluorescence in situ hybridization (FISH). Results The phenotype of partial trisomy 1 and partial monosomy X of the present case was much attenuated, including premature ovarian failure, mental retardation, class I obesity, mild dysmorphism and delayed secondary sexual characteristics. The breakpoints of the unbalanced translocation were accurately located at Xq28 and 1q32·1. The large amplification on Chromosome 1 q arm was found to involve 312 genes and the deletion on Chromosome X q arm also involved 141 genes. Overall, genes associated with physiological process (47 genes), cellular process (33), development (23), response to stimulus (1) and reproduction (1) were observed in the amplification on Chromosome 1 q arm. In addition, genes related to physiological process (23 genes), cellular process (13), development (6) and response to stimulus (2) were observed in the large deletion on chromosome X q arm. Late-replication studies revealed the existence of skewed X inactivation in the derivative X chromosome. Conclusions The phenotype of partial monosomy X and partial trisomy 1q is much attenuated in case of unbalanced translocation (X;1) in adulthood probably owing to skewed X inactivation in derivative X chromosome. [ABSTRACT FROM AUTHOR]

Background: Study TR03 evaluated the safety and efficacy of nalbuphine ER for prurigo nodularis (PN; NCT02174419). Objective: We conducted supplementary analyses to assess the psychometric properties of the Worst Itch Numeric Rating Scale (WI‐NRS), the TR03 primary endpoint. Methods: Study TR03 was a double‐blind, placebo‐controlled, phase 2 trial in PN patients with documented scores ≥5 on the WI‐NRS (0 [no itch]–10 [worst itch imaginable]) on ≥5 of 7 days before baseline. Using TR03 data, the WI‐NRS's psychometric properties, including reliability, validity and ability to detect change, were evaluated. A responder threshold was estimated to facilitate interpretation of WI‐NRS score changes. Results: Amongst 62 treated patients, improvements in mean [SD] (median) WI‐NRS scores were observed between baseline (8.2 [1.21] (8.1)) and week 10 (5.8 [2.43] (6.0)). The WI‐NRS had an intraclass correlation coefficient of 0.96 (95% confidence interval, 0.93–0.98) in 42 patients who had stable Itch verbal rating scale (VRS) scores from week 9–10, supporting strong test–retest reliability. Construct validity was supported, with strong correlations at week 10 with Average Itch NRS (r = 0.87) and Itch VRS single‐day/weekly mean scores (r = 0.81/0.89) and moderate correlations with ItchyQoL™ total/domain scores (r = 0.41–0.43). The WI‐NRS discriminated between predefined severity subgroups based on the Itch VRS and detected changes in itching severity (effect‐size estimate: −2.05; standardized response mean: −1.21). An anchor‐based threshold based on a two‐category improvement in the single‐day Itch VRS suggests a responder threshold of ≥3.8 points (~40% improvement). Conclusions: The WI‐NRS demonstrates good measurement properties, supporting its use in evaluating treatment change in PN. [ABSTRACT FROM AUTHOR]

The serum soluble cytotoxic T lymphocyte associated antigen-4 (sCTLA-4) concentration is significantly elevated in patients with asthma, and sCTLA-4 concentration correlate with the severity of asthma. The aim of the present study was to investigate effects of allergen inhalation and oral glucocorticoid on concentration of serum sCTLA-4 in patients with allergic asthma.Allergen inhalation challenge was conducted in allergic asthmatics with isolated early asthma response and those with dual asthma response. In a randomized, double-blind, placebo-controlled, parallel group fashion, prednisolone or placebo was give orally once a day for 2 weeks. Venous blood samples were collected before and after allergen inhalation or prednisolone administration for obtaining sera. The serum sCTLA-4 concentrations were determined using enzyme-linked immunosorbent assay.The serum sCTLA-4 concentrations in the dual responder group increased from 29.0 (14.5–43.7) μg/l [median (25–75 percentiles)] before allergen inhalation to 44.0 (24.3–61.3) μg/l 24 h after allergen inhalation. In the isolated early responders, there were no significant increase in serum sCTLA-4 concentrations after allergen inhalation compared with baseline levels. There was a significant decrease in serum sCTLA-4 concentrations after 2 weeks of glucocorticoid therapy [22.0 (15.5–31.0) μg/l] compared with baseline values [37.0 (19.5–53.0) μg/l], whereas there was no significant difference in the placebo group.This study has demonstrated that serum sCTLA-4 concentrations increased after allergen inhalation in sensitized asthmatic subjects, and that serum sCTLA-4 concentrations were downregulated by prednisolone therapy. [ABSTRACT FROM AUTHOR]

The ELAV/Hu family is a conserved multigene family of pan‐neuronal RNA‐binding protein involved in post‐transcriptional regulation in metazoans. In Drosophila, three members of this family, ELAV, RBP9 and FNE, are involved in neuronal differentiation, gene expression regulation and so on. This family is less well characterized in Bombyx mori. Two orthologs BmELAV‐like‐1 (BmEL‐1) and BmELAV‐like‐2 (BmEL‐2) share 55%–71% and 47%–62% identity with that of in Drosophila and humans, respectively. Bmel‐1 is ubiquitously expressed while Bmel‐2 is expressed in the head and ovaries specifically. Proteins encoded by both genes are localized in nuclear and cytoplasm. The weight of body, cocoon, pupae and cocoon shell are differently affected in Bmel‐1−/−2− mutants created using CRISPR/Cas9 technology. Mutations of both genes increase the expression of four silk protein genes, Fib‐L, Fib‐H, P25 and Ser‐1. In addition, the oviposition ability of Bmel‐2− females is decreased. This study not only provides valuable insights into the functional roles of Bmelav‐like genes in the growth, cocoon characters and regulation of silk protein genes expression, but also provides useful information for silkworm variety breeding. [ABSTRACT FROM AUTHOR]

In this work, a generalized form for the augmented electric field integral equation with perturbation method is studied. By implementing Taylor expansion on all the frequency‐dependent matrix terms and the unknowns, the current coefficients on each frequency order can be obtained in the perturbation method, where the accuracy can be guaranteed near the zero frequency or within the static frequency region. When the frequency goes higher, more expanding terms are required to obtain the accurate results. In order to obtain a wideband solution, a general formulation for the perturbation method is derived and analyzed for the first time. As a result, the improved method can be further extended to dynamic region. Numerical results show that the achieved results for both capacitive circuit problems and plane wave scattering problems are more accurate in comparison with those obtained from the traditional solutions, where the number of the required expanding terms can be determined according to the corresponding error analysis. [ABSTRACT FROM AUTHOR]

Understanding the structure‐activity relationship of catalytic reactions at a molecular level still remains a great challenge. Herein, shell‐isolated nanoparticle‐enhanced Raman spectroscopy (SHINERS) is employed to in‐situ study the catalytic hydrogenation of para‐nitrothiophenol (pNTP) on Pt‐based nanocatalysts with different size and composition. The nanocatalysts are assembled on pinhole‐free shell‐isolate nanoparticles (SHINs), which work as Raman amplifiers to enhance the Raman signals of species on the catalysts, allowing the in‐situ monitoring of catalytic reactions carried out on the catalysts. Using this strategy, we find that the catalytic activity of the Pt nanocatalysts shows a volcanic trend with the Pt size, and that PtM (M=Ni or Cu) bimetallic nanocatalysts display much higher performance compared with Pt due to better activation of the nitro group. This work demonstrates that SHINERS is a promising technique for in‐situ study of nanocatalysis thus can deepen the understanding of the behaviors of different catalysts. [ABSTRACT FROM AUTHOR]

One hundred and fifty 7-day-old Arbor Acres broilers were randomly assigned into five groups: group 1 served as a control that was fed a basal diet without selenium (Se) supplementation; groups 2, 3 and 4 were fed the basal diet supplemented with 0.15, 0.5 and 1.5 mg Se as Se-enriched Saccharomyces cerevisiae ( SSC) per kg of diet; and group 5 was fed the basal diet supplemented with 0.15 mg per kg of Se as sodium selenite ( SS). Growth performance, glutathione peroxidase ( GPX) and superoxide dismutase ( SOD) activities, total antioxidant capacity (T- AOC), and malondialdehyde ( MDA) content in plasma and liver, and cellular glutathione peroxidase ( GPX-1) and phospholipid hydroperoxide glutathione peroxidase ( GPX-4) mRNA levels in liver were determined. Compared with group 1, groups 2-4 exhibited higher body weights (p < 0.05), lower feed/gain ratios, and higher GPX activities in plasma (p < 0.05) and GPX and SOD activities and GPX-1 and GPX-4 mRNA levels in liver (p < 0.05). Compared with group 5, group 2 exhibited higher GPX activity in plasma on day 21 (p < 0.05). Compared with group 2 and 5, group 3 exhibited lower MDA content in plasma on day 7 (p < 0.05), higher GPX activity in plasma, SOD activity and GPX-1 mRNA levels in liver on day 14 and 21 (p < 0.05), and higher GPX-4 mRNA levels on day 14 (p < 0.05). Compared with group 4, group 3 exhibited lower MDA contents in plasma on day 14 (p < 0.05) and in liver on day 21 (p < 0.05), higher T- AOC in plasma and higher GPX-1 mRNA levels on day 14 and 21 (p < 0.05), and higher SOD activity in plasma and higher SOD and GPX activities in liver on day 21 (p < 0.05). Thus, SSC improves growth and antioxidant status of broilers; the short-term bioavailability of SS was faster than that of SSC, but the long-term bioavailability of SSC was greater than SS. [ABSTRACT FROM AUTHOR]

The purpose of this study was to determine whether self- DNA can trigger the inflammatory response in cholesteatoma. Specimens were collected from nine patients with invasive cholesteatoma, nine patients with attic-type cholesteatoma (pars flaccida was perforated in five patients and intact in four) and four healthy skins. Expression and localization of LL-37 and interferon-alpha were detected by immunofluorescence and immunoblot analysis. Cultures of human cholesteatomatous keratinocytes were exposed to CpG DNA, LL-37 or CpG DNA complexed to LL-37 for 24 h. Expression of interferon-alpha was detected by RT- PCR. We detected abundant cytosolic DNA, increased LL-37 and interferon-alpha in keratinocytes in invasive cholesteatoma and attic-type cholesteatoma with pars flaccida perforation, but not in attic-type cholesteatoma with pars flaccida intact and normal skin. In cultured keratinocytes, LL-37- DNA complexes induced IFN- α expression. These data suggest that cytosolic DNA is an important disease-associated molecular pattern that triggers the inflammation response in cholesteatoma. Furthermore, LL-37 played an important role in DNA-triggered inflammation. Thus, we have identified a link between cytosolic DNA, LL-37 and autoinflammation in cholesteatoma, providing new potential targets for the treatment of this disease. [ABSTRACT FROM AUTHOR]

Background The discrepancy between the number of admissions and the allocation of hospital beds means that many patients admitted under the care of a general medical service can be placed in other departments' wards. These patients are called 'outliers', and their outcomes are unknown. Aims To examine the relation between the proportion of time each patient spent in their 'home ward' during an index admission and the outcomes of that hospital stay. Methods Data from Flinders Medical Centre's patient journey database were extracted and analysed. The analysis was carried out on the patient journeys of patients admitted under the general medicine units. Results Outlier patients' length of stay was significantly shorter than that of the inlier patients (110.7 h cf 141.9 h; P < 0.001).They had a reduced risk of readmission within 28 days of discharge from hospital. Outlier patients' discharge summaries were less likely to be completed within a week (64.3% cf 78.0%; P < 0.001). Being an outlier patient increased the risk-adjusted risk of in-hospital mortality by over 40%. Fifty per cent of deaths in the outlier group occurred within 48 h of admission. Outlier patients had spent longer in the emergency department waiting for a bed (6.3 h cf 5.3 h; P < 0.001) but duration of emergency department stay was not an independent predictor of mortality risk. Conclusion Outlier patients had significantly shorter length of stay in hospital but significantly greater in-patient death rates. Surviving outlier patients had lower rates of readmission but lower rates of discharge summary completion. [ABSTRACT FROM AUTHOR]

Objectives There has been increasing interest in mesenchymal stem cells ( MSCs) because of their potential use for regenerative therapy; however, there is no well-defined protocol for MSCs culture. This study compares techniques of conventional plate and microcarrier culturing of MSCs. Methods and results Here, different conditions for isolation and expansion of rat MSCs have been examined and it was found that plating density and plating time in primary culture played important roles for culture of these rat MSCs. When plated at 108/cm2 density for 72 h, in primary culture, recycling stem cells ( RS cells) predominated, and characteristics of rat MSCs (including morphology, growth rate, phenotype and differentiation potentials) remained stable during expansion until passage 14. For subculture of the cells, it was found that their growth rate when incubated at 33 °C was higher than those incubated at 37 °C, and maximal increase was 10- and 6-fold respectively. When cultured using microcarriers, at a density of 1 × 105/mg beads, growth kinetics, phenotype and differentiation potentials also remained constant for cells between passage 2nd and 14th; their maximal number increased 16-fold. Conclusions Compared to conventional plate culture, culture using gelatine porous microcarrier Cultispher-S was superior for large-scale production of rat MSCs. [ABSTRACT FROM AUTHOR]

Repeated applications of mineral and/or organic fertilizer will probably affect gross nitrogen (N) dynamics in soils in the long term but only a limited number of observations are available. Here we present results of a 15N tracing study with soil from the various fertilizer treatments of the Huang-Huai-Hai Plain experiment that has been in operation for more than 17 years. Mineral fertilizer in various combinations of N, phosphorus (P) and potassium (K), organic manure (OM) or a mixture of mineral fertilizer and manure had been repeatedly applied for 17 years. The gross N transformation rates were quantified with a 15N tracing model, which uses a parameter optimization routine based on Bayesian principles. Mineralization of soil organic matter was at least 2.7 times greater in all fertilizer treatments compared with the untreated control (0.67 µg N g−1 day−1). While application of mineral N enhanced mineralization from recalcitrant organic N, the application of organic fertilizers stimulated the mineralization of labile organic N. Gross nitrate (NO3−) production solely resulted from ammonium (NH4+) oxidation. Compared with the gross NO3− production in the control treatment (2.22 µg N g−1 day−1), long-term N applications stimulated gross nitrification by more than 5.3 times. The largest gaseous N emissions were associated with the organic manure treatments. The ratio of gross NO3− production to total mineral N consumption, a ratio proposed previously to determine potential NO3− loss, was a good indicator except for the treatment without N application. This ratio increased from 0.8 in the control to 2.7 in the mixture of mineral fertilizer and manure treatment. The largest gaseous N emissions (N2O + NO) ( P < 0.05) were generally found at greater ratios. Results clearly showed that various fertilizers have a differential effect on N dynamics and potential gaseous N losses in the long term. [ABSTRACT FROM AUTHOR]

The interaction of chemokines with their receptors strongly influences the migration of leucocytes.In order to assess the contribution of these molecules to the local recruitment of T cells in bronchial asthma, we analysed the expression of 14 chemokine receptors on lung-derived T cells.Chemokine-receptor expression by T cells derived from the peripheral blood, the bronchoalveolar lavage fluid and the bronchial mucosa was analysed by flow cytometry and immunohistochemistry. Expression profiles in healthy and mildly asthmatic individuals were compared, the latter prior and after segmental allergen provocation.Compared with peripheral blood, alveolar T cells expressed significantly more CCR2, CCR5, CCR6, CXCR3 and CCR4. However, no differences were observed between healthy controls and unchallenged asthmatics. In patients developing significant inflammatory responses following specific allergen challenge, a marked increase in the percentage of CCR4+ and CCR7+, and reduced numbers of CXCR3-bearing alveolar T cells were detected. Following specific allergen challenge, chemokine-receptor expression profiles of T cells from the alveolar space and the mucosa or the submucosa were similar, excluding a particular subcompartmentalization of the chemokine/chemokine-receptor system.The expression of certain chemokine receptors by lung T cells suggests a contribution to the physiological recruitment of T cells to the lungs, both in healthy controls and unchallenged mild asthmatics. However, strong allergen-induced airway responses were associated with a specific chemokine-receptor profile, suggesting the involvement of certain chemokine receptors in the pathogenesis of allergic bronchial inflammation. [ABSTRACT FROM AUTHOR]

The non-obese diabetic (NOD) mouse is a model for the study of insulin-dependent diabetes mellitus (IDDM). Recently transgenic NOD mice have been derived (NOD-E) that express the major histocompatibility complex (MHC) class III-E molecule. NOD-E do not become diabetic and show negligible pancreatic insulins. The possibility pertained that NOD-E mice are protected from disease by a process of T-cell deletion or anergy. This paper describes our attempts to discover whether this was so, by comparing NOD and NOD-E mouse T-cell receptor Vβ usage. Splenocytes and lymph node cells were therefore tested for their ability to proliferate iii response to monoclonal anti-Vβ antibodies. We were unable to show any consistent differences between NOD and NOD-E responses to the panel of antibodies used. Previously proposed Vβ were shown to be unlikely candidates for deletion or anergy. T cells present at low frequency (Vβ5+) in both NOD and NOD-E mice were shown to be as capable of expansion in response to antigenic stimulation as were more frequently expressed Vβ. Our data therefore do not support deletion or anergy as mechanisms which could account for the observed disease protection in NOD-E mice. [ABSTRACT FROM AUTHOR]

Background Dowling-Degos disease (DDD; MIM 179850) is an autosomal dominant genodermatosis caused by mutations in keratin 5 gene ( KRT5). KRT5 is specifically expressed in basal layer of epidermis and plays an important role in protecting epithelial cells from mechanical and non-mechanical stresses. Objective We analysed the molecular basis of DDD in a Chinese family. Methods Genomic DNA of the Chinese DDD family and a matched control cohort was isolated according to standard techniques. All exons of the KRT5 gene and adjacent exon-intron border sequences were amplified using PCR and directly sequenced. Results We identified a novel keratin 5 (K5) nonsense mutation designated c.C10T (p.Gln4X) in exon 1 of the KRT5 gene. Conclusion Our data expand the spectrum of mutations in the KRT5 gene underlying DDD. [ABSTRACT FROM AUTHOR]