bluuebunny/crossref_metadata_2025 huggingface dataset:
Disparities in aspects of oral‐health‐related quality of life among Chilean adults
Authors: Espinoza Iris , Thomson W. Murray , Gamonal Jorge , Arteaga Oscar
Published: September 2012

Objective

Socioeconomic disparities in oral health among adults have been observed in many countries, but it is not clear whether they exist in aspects of Oral Health‐Related Quality of Life in Chile.

Methods

Data were analyzed from the 1st National Health Survey (NHIS) of Chilean adults, conducted in 2003. It included questions on aspects of oral‐health‐related quality of life (OHRQoL), including problems (‘always’ or ‘almost always’) with speaking, eating, pain, or daily activities. These were the dependent variables. Covariates included age, sex, education level, rurality, smoking, general quality of life, the number of remaining teeth, the number of untreated decayed teeth, and the reason for the last dental visit. Multivariate modelling was used to describe disparities in aspects of OHRQoL, using education level as the marker for socioeconomic status.

Results

The sample comprised 3050 participants (54.7% female), of whom 49.0%, 40.5% and 10.5% had been educated to primary, secondary or tertiary level respectively. In the bivariate analysis, there were significant gradients in all four aspects of OHRQoL across those three categories. Covariates significantly associated with poorer OHRQoL were female gender, rurality, and poor self‐reported general quality of life, and these were subsequently controlled for in the multivariate analysis. Adults with primary education (or less) were more likely than their tertiary‐educated counterparts to report problems speaking (relative risk = 2.38; CI: 1.41, 4.05), trouble or pain (relative risk = 2.77; CI: 1.56, 4.91), discomfort in eating with others (relative risk = 2.35; CI: 1.34, 4.10), and interference with activities of daily living (relative risk = 2.29; CI: 1.15, 4.55). Those educated only to secondary level had relative risks which were lower than these but still significantly different from the reference category. The number of teeth with untreated caries was positively associated with impaired OHRQoL, and the number of remaining teeth was negatively associated with it.

Conclusions

Socio‐economic disparities in oral‐health‐related quality of life are apparent
among Chilean adults, and remain after adjusting for dental status.
Genetics of the Charcot‐Marie‐Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy‐Russe in depth
Authors: Sevilla T , Martínez‐Rubio D , Márquez C , Paradas C , Colomer J , Jaijo T , Millán JM , Palau F , Espinós C
Published: September 2012

Four private mutations responsible for three forms demyelinating of Charcot‐Marie‐Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN‐Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN‐Russe). Here we address the findings of a genetic study of 29 Gypsy Spanish families with autosomal recessive demyelinating CMT. The most frequent form is CMT4C (57.14%), followed by HMSN‐Russe (25%) and HMSN‐Lom (17.86%). The relevant frequency of HMSN‐Russe has allowed us to investigate in depth the genetics and the associated clinical symptoms of this CMT form. HMSN‐Russe probands share the same haplotype confirming that the HK1 g.9712G>C is a founder mutation, which arrived in Spain around the end of the 18th century. The clinical picture of HMSN‐Russe is a progressive CMT disorder leading to severe weakness of the lower limbs and prominent distal sensory loss. Motor nerve conduction velocity was in the demyelinating or intermediate range.
Evaluating rare coding variants as contributing causes to non‐syndromic cleft lip and palate
Authors: Leslie EJ , Murray JC
Published: September 2012

Rare coding variants are a current focus in studies of complex disease. Previously, at least 68 rare coding variants were reported from candidate gene sequencing studies in non‐syndromic cleft lip and palate (NSCL/P), a common birth defect. Advances in sequencing technology have now resulted in thousands of sequenced exomes, providing a large resource for comparative genetic studies. We collated rare coding variants reported to contribute to NSCL/P and compared them to variants identified from control exome databases to determine if some might be rare but benign variants. Seventy‐one percentage of the variants described as etiologic for NSCL/P were not present in the exome data, suggesting that many likely contribute to disease. Our results strongly support a role for rare variants previously reported in the majority of NSCL/P candidate genes but diminish support for variants in others. However, because clefting is a complex trait it is not possible to be definitive about the role of any particular variant for its risk for NSCL/P.
Recurrent mutations inDNAJC5cause autosomal dominant Kufs disease
Authors: Cadieux‐Dion M , Andermann E , Lachance‐Touchette P , Ansorge O , Meloche C , Barnabé A , Kuzniecky RI , Andermann F , Faught E , Leonberg S , Damiano JA , Berkovic SF , Rouleau GA , Cossette P
Published: September 2012

We sought to identify the molecular basis of the autosomal dominant form of Kufs disease, an adult onset form of neuronal ceroid lipofuscinosis. We used a combination of classic linkage analysis and Next Generation Sequencing to map and identify mutations inDNAJC5in a total of three families. We analyzed the clinical manifestations in 20 individuals with mutation inDNAJC5. We report here the mapping and the identification of a p.L116del mutation inDNAJC5segregating with the disease in two distinct American families, as well as a p.L115Rmutation in an additional family. The age of onset and clinical manifestations were very homogeneous among mutation positive individuals, including generalized tonic–clonic seizures, myoclonus, ataxia, speech deterioration, dementia, and premature death. A few individuals also exhibited parkinsonism.DNAJC5, which encodes the cysteine string protein (CSPα), a presynaptic protein implicated in neurodegeneration, causes autosomal dominant Kufs disease. The leucine residues at positions 115 and 116 are hotspots for mutations and result in a homogeneous phenotype of progressive myoclonus epilepsy with onset around 30 years old.
CEO Personal Wealth, Equity Incentives and Firm Performance
Authors: Elsilä Anna , Kallunki Juha‐Pekka , Nilsson Henrik , Sahlström Petri
Published: September 2012

Manuscript Type

Empirical

Research Question/Issue

In this paper, we explore the determinants and performance effects of a novel measure of executive incentives, that is, the elasticity of a CEO's total wealth to firm performance, computed as a CEO's ownership value relative to her total wealth.

Research Findings/Insights

Using unique data on the total personal wealth of the CEOs of listed Swedish firms, we find that while CEOs typically own only a very small fraction of the shares of their firms, this ownership often constitutes a significant part of their total wealth. We also find that a CEO's total wealth elasticity is negatively associated with firm size and a CEO's age is positively associated with a firm risk environment. As for the effect on firm performance, we find that higher CEO's equity incentives enhance future accounting firm performance, when we estimate panel data regressions by taking into account the dynamic nature of endogeneity between a CEO's incentives and firm performance. However, we do not find any evidence that a CEO's equity incentives to be related to future stock returns.

Theoretical/Academic Implications

Our analysis suggests that executives' incentives when measured as price‐performance elasticity are economically more significant than has been often argued in the literature. Moreover, due to several advantages of price‐performance elasticity over traditionally used fractional ownership and dollar‐at‐stake measures, the inferences drawn from this study with respect to determinants and performance implications of a CEO's incentives may be superior to those from prior studies. The result on the relation between firm size and a CEO's incentives is especially interesting, because, unlike fractional ownership, the elasticity of a CEO's total wealth to firm performance is not spuriously related to firm size. With respect to the relation between incentives and subsequent firm performance, our results are consistent with the view that higher CEO's incentives, measured as price‐performance elasticity, enhance firm accounting performance. Overall, future studies should consider price‐performance elasticity as an alternative measure of executive incentives in addressing various research questions.

Practitioner/Policy Implications

The evidence in this paper suggests that executive incentives calculated relative to their non‐firm wealth are economically more meaningful if compared to the traditionally used measures. As such, compensation consultants and boards of directors can consider this alternative measure when designing executive compensation plans and determining an appropriate level of ownership, when the information on executive non‐firm wealth is available.
Phosphorylated p38 and JNK MAPK proteins in hepatocellular carcinoma
Authors: Wang Shen‐Nien , Lee King‐Teh , Tsai Chia‐Jung , Chen Yu‐Jie , Yeh Yao‐Tsung
Published: September 2012

Eur J Clin Invest 2012; 42 (12): 1295–1301

Background  The p38 and JNK MAPK proteins function as key mediators in cellular responses to extracellular stimuli. Deregulated p38 and JNK expressions have been associated with cancer development. This study aimed to investigate the association of p‐p38 and p‐JNK levels of the cancerous tissues with hepatocellular carcinoma (HCC) development.

Materials and methods  One hundred and four liver cancer tissues of patients with HCC who underwent curative resection were prospectively collected. The levels of activated/p‐p38 and p‐JNK were determined by the enzyme‐linked immunosorbent assay. The associations of results with clinicopathological characteristics and overall survival were further statically analysed using chi‐squared test, two‐tailed Student’s t‐test and Kaplan–Meier survival curve.

Results  The p‐p38 levels were significantly higher in the HCC patients with a larger tumour (≥ 3 cm) and satellite tumour, and significantly correlated with the p‐JNK levels. High p‐p38 and low p‐JNK expressions were associated with a poor survival in the patients with HCC (odds ratio, 4·24 and 0·20; P = 0·03 and 0·03, respectively). The Kaplan–Meier survival analysis showed that the HCC patients with high p‐p38 expressions had a poor overall survival than those with low p‐p38 expressions (P = 0·04), and a coexistent and high p‐JNK expression remarkably improved this trend.

Conclusions  Increasing p‐p38 levels in HCC tissues were associated with tumour size and the formation of satellite tumours. High p‐p38 expression could serve as a predictor for a poor survival for the patients with HCC. Simultaneous expression of p‐JNK in HCC tissues might antagonize the promoting effect of p‐p38 in human liver cancer.
Contributors to individual quality of life after liver transplantation
Authors: Thiel Christian , Landgrebe Kerstin , Knubben Evelyn , Nadalin Silvio , Ladurner Ruth , Grasshoff Christian , Königsrainer Alfred , Schenk Martin , Thiel Karolin
Published: September 2012

Eur J Clin Invest 2012

Background  With increasing improvements of patient survival after liver transplantation, the focus on outcome measures shifts from survival rate to quality of life. Individual quality of life is crucial to rehabilitate patients after transplantation. Therefore, it is important to identify specific issues that contribute to high individual quality of life. In contrast to the Short form 36 Health Survey (SF‐36), the Schedule for the Evaluation of Individual aspects of Quality of Life‐direct weighting (SEIQoL‐DW) allows patients to name the areas of life, which are important to them.

Design  In a semi‐structured interview style, 71 patients following liver transplant were asked to complete the SEIQoL‐DW and the SF‐36 in a cross‐sectional design.

Results  We found five quality of life areas that were chosen by more than half of the patients: family, friends, sports, partnership and profession/occupation. Health was only mentioned by 45% of all patients. Individual quality of life did not differ from healthy population. In the SF‐36, patients showed normal mental health parameters but reduced physical components. A strong correlation between SEIQoL‐DW‐Index and the mental component summary of the SF‐36 was observed.

Conclusion  In addition to the widely used standardized SF‐36, the individual measure SEIQoL‐DW shows new aspects concerning the areas of quality of life, which are personally important to the participants. Less than half of our patients mentioned health and the five most nominated areas are not related to health. By focusing on health, the importance of health‐related factors is overrated, and the impact of non‐medical effects is underrepresented.
A positive Link Between Male Testosterone and Spacing Behavior in Pair‐Bonded California Mice
Authors: Gleason Erin D. , Marler Catherine A.
Published: September 2012

The effects of testosterone (T) on male sexual behavior are well established, but its roles in several associated social behaviors such as pair‐bonding and paternal behavior are diverse. Recently, we reported that male T in response to pairing with a female predicts future paternal behavior in the monogamous and biparental California mouse (Peromyscus californicus). Here, we examined whether T in response to pairing is also associated with spacing behavior between mates under laboratory conditions and if these behavioral patterns are continued during pup care. Pairs of California mice were observed throughout their pair bond before and again after pups were born. We found that males with higher T post‐pairing remained closer to their mates in the weeks before pups were born, and pairs with higher proximity measures during the pair bond spent more time caring for pups together. Overall, these results suggest a similar mechanism for spacing behavior across distinct phases of the pair bond.
Harvest models and stock co‐occurrence: probabilistic methods for estimating bycatch
Authors: Drake D Andrew R , Mandrak Nicholas E
Published: September 2012

A primary goal of ecosystem‐based fishery management is to reduce non‐target stock impacts, such as incidental harvest, during targeted fisheries. Quantifying incidental harvest has generally incorporated fishery‐dependent catch data, yet such data may be biased by gear non‐retention, observation difficulties, and non‐random harvest patterns that collectively lead to an impartial understanding of non‐target stock capture. To account for such issues and explicitly recognize the combined influence of ecological and harvest factors contributing to incidental capture within targeted fisheries, we demonstrate a probabilistic modelling framework that incorporates: (i) background rates of target and non‐target stock co‐occurrence as the primary ecological basis for incidental harvest; (ii) the probability of harvesting at localities exhibiting co‐occurrences; (iii) the probability of selecting for non‐target species with fishery gear; and, (iv) as a function of harvest effort, the overall probability of incidental capture for any non‐target stock contained in the species pool available for harvest. To illustrate application of the framework, simulation models were based on fishery‐independent data from a freshwater fishery in Ontario, Canada. Harvest simulations of empirical stock data indicated that greatest species‐specific capture values were over 4000 times more likely than for species with lowest values, indicating highly variable capture probabilities because of the combined influence of stock heterogeneity and harvest dynamics. Estimated bycatch–effort relationships will allow forecasting incidental harvest on the basis of effort to evaluate future shifts in fishing activity against specific ecosystem‐based fishery management objectives, such as reducing the overall probability of bycatch while maintaining target landings.
Oxidative capacities of cardiac and skeletal muscles of heart transplant recipients: mitochondrial effects of cyclosporin‐A and its vehicle Cremophor‐EL
Authors: N'Guessan Benoit Banga , Sanchez Hervé , Zoll Joffrey , Ribera Florence , Dufour Stéphane , Lampert Eliane , Kindo Michel , Geny Bernard , Ventura‐Clapier Renée , Mettauer Bertrand
Published: September 2012

Chronic immunosuppressive treatment was suspected to alter maximal muscle oxidative capacity (Vmax) of heart transplant recipients, leading to a limitation of their exercise tolerance. It remains undefined whether the mitochondrial respiratory chain (MRC) of right ventricle (RV) and vastus lateralis (VL) muscles were altered by immunosuppressants and/or their vehicles. Vmax was measured polarographically in saponin‐skinned fibres of RV and VL biopsies of patients and compared with Vmax of healthy VL and myocardium. Effects of increasing concentrations (1–10–100 μM) of Sandimmune®, its vehicle, Cyclosporine (CsA) in ethanol (EtOH), or EtOH alone were tested. The vehicle's effects on MRC complexes were investigated using specific substrates and inhibitors. Ten months after grafting, Vmax of RV and VL of immunosuppressed patients were similar to their Vmax at time of transplantation and to that of control tissues. In Vitro, Sandimmune® significantly decreased Vmax while CsA in EtOH or EtOH exerted small and similar effects. Effects of the vehicle were higher than (RV) or identical to (VL) those of Sandimmune®. The sites of action of the vehicle on MRC were located on complexes I and IV. While unchanged under chronic immunosuppressive therapy, Vmax of RV and VL muscles was depressed by acute exposure to intravenous Sandimmune® in vitro, an effect attributed to its vehicle by inhibition of complexes I and IV of the MRC. This work provides an in vitro proof of a toxic effect on the mitochondria respiratory chain of the vehicle used in the intravenous formulation of Sandimmune® but with no clinical consequences in chronically immunosuppressed patients.
Elucidation of molecular mechanism involved in neuroprotective effect ofCoenzymeQ10 in alcohol‐induced neuropathic pain
Authors: Kandhare Amit D. , Ghosh Pinaki , Ghule Arvindkumar E. , Bodhankar Subhash L.
Published: September 2012

The aim of the present investigation was to evaluate the effect ofCoenzymeQ10 and its combination with vitaminEin alcohol‐induced chronic neuropathic pain. MaleWistar rats were orally treated with alcohol (10 g/kg, 35% v/v, b.i.d.) for 10 weeks. CoenzymeQ10 (25, 50, and 100 mg/kg) and vitamin E (100 mg/kg) were coadministered orally for 1 h after ethanol administration for 10 weeks. Various nerve functions, biochemical, and molecular parameters were assessed. Chronic administration of ethanol for 10 weeks resulted significant development of neuropathic pain. Treatment withCoenzymeQ10 (50 and 100 mg/kg) for 10 weeks showed significant and dose dependently increased in level of nociceptive threshold, endogenous antioxidant, andNa,K‐ATPase enzyme. CoenzymeQ10 (50 and 100 mg/kg) significantly restored the levels of motor nerve conduction velocity and sensory nerve conduction velocity. It also showed significant decrease in levels of endogenous calcium, oxidative–nitrosative stress,TNF‐α,IL‐1β, andIL‐4 level. Alteration in protein expression of polymerase gamma (pol γ) was significantly restored theCoenzymeQ10 treatment. The important finding of the study is that,CoenzymeQ10 (100 mg/kg) and α‐tocopherol (100 mg/kg) combination‐treated rats showed more significant prevention of behavioral, biochemical, and molecular neurotoxic effect of alcohol administration thanCoenzymeQ10 or α‐tocopherol alone treated group. It is evident from the finding of present investigation that plethora of mechanism including inhibition of oxido‐nitrosative stress, release of pro‐inflammatory cytokine, modulation of endogenous biomarker, and protection of pol γ protein expression simultaneously orchestrate to exhibits neuroprotective effect ofCoenzymeQ10, vitamin E and their combination.
Phosphorylation on threonine 11 of β‐dystrobrevin alters its interaction with kinesin heavy chain
Authors: Fratini Federica , Macchia Gianfranco , Torreri Paola , Matteucci Andrea , Salzano Anna Maria , Crescenzi Marco , Macioce Pompeo , Petrucci Tamara C. , Ceccarini Marina
Published: September 2012

Dystrobrevin family members (α and β) are cytoplasmic components of the dystrophin‐associated glycoprotein complex, a multimeric protein complex first isolated from skeletal muscle, which links the extracellular matrix to the actin cytoskeleton. Dystrobrevin shares high homology with the cysteine‐rich and C‐terminal domains of dystrophin and a common domain organization. The β‐dystrobrevin isoform is restricted to nonmuscle tissues, serves as a scaffold for signaling complexes, and may participate in intracellular transport through its interaction with kinesin heavy chain. We have previously characterized the molecular determinants affecting the β‐dystrobrevin–kinesin heavy chain interaction, among which is cAMP‐dependent protein kinase [protein kinase A (PKA)] phosphorylation of β‐dystrobrevin. In this study, we have identified β‐dystrobrevin residues phosphorylated in vitro by PKA with pull‐down assays, surface plasmon resonance measurements, and MS analysis. Among the identified phosphorylated residues, we demonstrated, by site‐directed mutagenesis, that Thr11 is the regulatory site for the β‐dystrobrevin–kinesin interaction. As dystrobrevin may function as a signaling scaffold for kinases/phosphatases, we also investigated whether β‐dystrobrevin is phosphorylated in vitro by kinases other than PKA. Thr11 was phosphorylated by protein kinase C, suggesting that this represents a key residue modified by the activation of different signaling pathways.

Structured digital abstract

Kif5a binds to β‐DB by surface plasmon resonance (View interaction)

β‐DB physically interacts with Kinesin and syntrophin. by pull down (View interaction)
A surprising observation that oxygen can affect the product enantiopurity of an enzyme‐catalysed reaction
Authors: Fryszkowska Anna , Toogood Helen S. , Mansell David , Stephens Gill , Gardiner John M. , Scrutton Nigel S.
Published: September 2012

Enzymes are natural catalysts, controlling reactions with typically high stereospecificity and enantiospecificity in substrate selection and/or product formation. This makes them useful in the synthesis of industrially relevant compounds, particularly where highly enantiopure products are required. The flavoprotein pentaerythritol tetranitrate (PETN) reductase is a member of the Old Yellow Enzyme family, and catalyses the asymmetric reduction of β‐alkyl‐β‐arylnitroalkenes. Under aerobic conditions, it additionally undergoes futile cycles of NAD(P)H reduction of flavin, followed by reoxidation by oxygen, which generates the reactive oxygen species (ROS) hydrogen peroxide and superoxide. Prior studies have shown that not all reactions catalysed by PETN reductase yield enantiopure products, such as the reduction of (E)‐2‐phenyl‐1‐nitroprop‐1‐ene (PNE) to produce (S)‐2‐phenyl‐1‐nitropropane (PNA) with variable enantiomeric excess (ee). Recent independent studies of (E)‐PNE reduction by PETN reductase showed that the major product formed could be switched to (R)‐PNA, depending on the reaction conditions. We investigated this phenomenon, and found that the presence of oxygen and ROS influenced the overall product enantiopurity. Anaerobic reactions produced consistently higher nitroalkane (S)‐PNA product yields than aerobic reactions (64% versus 28%). The presence of oxygen dramatically increased the preference for (R)‐PNA formation (up to 52% ee). Conversely, the presence of the ROS superoxide and hydrogen peroxide switched the preference to (S)‐PNA product formation. Given that oxygen has no role in the natural catalytic cycle, these findings demonstrate a remarkable ability to manipulate product enantiopurity of this enzyme‐catalysed reaction by simple manipulation of reaction conditions. Potential mechanisms of this unusual behaviour are discussed.
Investigating the behavioural responses of trapped fishes using underwater video surveillance
Authors: Renchen G. F. , Pittman S. J. , Brandt M. E.
Published: September 2012

An underwater video surveillance system known as TrapCam was used to continuously record (15 ×c. 24 h periods) fish behaviour within and immediately surrounding an experimental fish trap situated in a coral reef ecosystem in the United States Virgin Islands. Of the 100 fishes (18 species, 12 families) trapped, surgeonfishes (Acanthuridae) and snappers (Lutjanidae) were most common. Thirteen distinctively identifiable behaviours were observed for trapped fishes. Species did not differ significantly in the proportion of time allocated to different behaviours (ANOSIM, R = 0·142). Doctorfish Acanthurus chirurgus and grey angelfish Pomacanthus arcuatus allocated the largest proportion of their recorded time to enter and exit the trap. Fishes spent an average of 15 min in the trap before escaping. Sixty‐seven per cent of trap approaches consisted of an individual of the same species as one already trapped suggesting that conspecific attraction may have occurred. Fifteen per cent of trapped species were observed with abrasions to the head and 70% were observed approaching the trap corners. The results of this study provide a greater understanding of the behavioural interactions between fishes and traps that can help explain patterns of catch composition, the physical condition of fishes in traps and inform design of gear modifications to optimize by‐catch reduction in the trap fishery.
Further Evidence from Meta‐Analysis of Audit Fee Research
Authors: Hay David
Published: September 2012

This paper examines the accumulated weight of evidence in audit fee research. Research on factors related to audit fees has become more widespread in recent years, and there was a considerable upsurge in audit fee papers published subsequent to the data used in a recent meta‐analysis. In this paper, I use meta‐analysis to accumulate statistical results from more recent published studies as well as the earlier studies, and revisit the overall conclusions about the issues that are examined in audit fee research. The addition of audit fee studies from the more recent period shows that there is now evidence that audit fees are positively associated with internal control and with corporate governance. Evidence from previous studies regarding the audit fee premiums for Big 4 firms and industry specialist auditors, and about the positive relationship between non‐audit services and audit fees is reinforced, although in each case there are issues regarding the underlying research that need to be addressed in future studies. The analysis also shows that longer audit tenure is associated with higher fees. The paper concludes with suggestions for future research.
Evaluation of effectiveness of erbium:yttrium–aluminum–garnet laser on atrophic facial acne scars with 22‐MHz digital ultrasonography in a Turkish population
Authors: Engİn Burhan , Kutlubay Zekayi , Karakuş Özge , Yardimci Gürkan , Doğan Zafer , Tüzün Yalçın , Serdaroğlu Server
Published: September 2012

ABSTRACT

Scar formation due to acne is a common problem among the young population and significantly affects their quality of life. The aim of this study was to evaluate the efficacy of erbium:yttrium–aluminum–garnet (Er:YAG) laser resurfacing for acne scars and to objectively demonstrate the altering of collagen density in the dermis by 22‐MHz digital ultrasonography. Twenty‐one patients, aged 19–55 years, with facial acne scars were treated with Er:YAG laser. The results of the laser resurfacing were evaluated for the degree of clinical improvement, alteration of the collagen density by 22‐MHz digital ultrasonography and any adverse effects at 3 months. At 3 months after the treatment, good (in 12 patients) and near total (in four patients) clinical improvement was noted in most of the patients compared to baseline. Overall treatment results were 76% (both near total and good) in 16 patients. By ultrasonographic evaluation, the average density of dermal collagen (total density/number of patients) of 21 patients was 32.714 (right cheek) and 32.142 (left cheek) before laser facial resurfacing. At the third month after treatment, the average density of dermal collagen of 21 patients was 36.380 (right cheek) and 38.809 (left cheek). In conclusion, Er:YAG laser skin resurfacing was found to be a safe and effective treatment modality for treatment of atrophic facial acne scars. As public demand grows for less invasive modalities to approach clinical diagnosis and evaluation, digital ultrasonography seems to provide an easy and confidential method for collagen density evaluation.
Dyschromatosis symmetrica hereditaria
Authors: Hayashi Masahiro , Suzuki Tamio
Published: September 2012

Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from East Asian countries, including Japan, China and Taiwan. Its symptoms are mixed hyper‐ and hypopigmented macules on the dorsal aspect of the hands and feet and freckle‐like macules on the face. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (ADAR1). The ADAR1 protein catalyzes the transformation of adenosine to inosine in dsRNA substrates (so‐called A‐to‐I editing) and is involved in various activities, such as viral inactivation, structural change of the protein and the resultant cell survival. However, its function in the skin and role in the development of DSH are still unknown. To date, more than 100 mutations of ADAR1 have been reported in patients with DSH, and the catalytic domain deaminase is believed to be crucial to the activities of this gene. Some complications of DSH have been reported and, intriguingly, several patients have been reported to develop neurological symptoms, such as dystonia and mental deterioration. Because ADAR1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR1, which will have significant scientific implications.
Two cases of livedo vasculopathy with non‐criteria antiphospholipid antibodies
Authors: Hasegawa Minoru , Fujimoto Manabu , Orito Hidemitsu , Matsushita Takashi , Hamaguchi Yasuhito , Takehara Kazuhiko
Published: September 2012

ABSTRACT

Livedo vasculopathy is characterized by reticular distribution of purpuric macules and papules of the lower legs, caused by intraluminal thrombosis of small vessels. Antiphospholipid antibodies are detected in a subset of these patients. We treated two cases (a 34‐year‐old man and a 46‐year‐old woman) with livedo vasculopathy. In both cases, thrombosis was seen only in the skin. The presence of immunoglobulin (Ig)G or IgM anticardiolipin antibody (Ab), IgG or IgM anti‐β2‐glycoprotein I Ab, or lupus anticoagulant are necessary for criteria‐based diagnosis of antiphospholipid syndrome. However, our patients were negative for these Ab, and instead had either IgG antiphosphatidylethanolamine Ab or IgA anticardiolipin Ab. These Ab are suggestive of antiphospholipid syndrome but are not considered “criteria” Ab. This report demonstrates the existence of antiphosphatidylethanolamine Ab or IgA anticardiolipin Ab in patients with livedo vasculopathy. However, the frequency and significance of these Ab in livedo vasculopathy should be confirmed in larger longitudinal studies.
Missed and inconsistent classification of current drinkers: results from the 2005 US National Alcohol Survey
Authors: Midanik Lorraine T. , Ye Yu , Greenfield Thomas K. , Kerr William
Published: September 2012

Aims

This study compares current 12‐month drinkers who do not report drinking in the last 30 days with current drinkers who drank in the last 30 days and assesses possible misclassification errors from use of a 30‐day consumption measure.

Design

Data are from the 2005 US National Alcohol Survey (n = 6919), a national household probability survey.

Setting

Telephone interviews were used to measure alcohol use and alcohol‐related problems.

Participants

This study compared 1300 current drinkers who did not drink in the last 30 days with 2956 current drinkers who drank in the last 30 days.

Measurements

Volume was measured by quantity/frequency scales (12‐month and 30‐day) and a graduated frequency scale (12‐month). Both groups were compared by demographic, alcohol volume, days of five or more drinks, social consequences and dependence measures.

Findings

Results indicate a significantly lower prevalence rate of current drinking for 30‐day measures—47.3% (45.8%, 48.8%) versus 67.3% (66.0%, 68.7%) with 12‐month measures. Further, 385 non‐30‐day drinkers reported 12‐month drinking frequencies of once a month or more often, suggesting possible inconsistent reporting of their alcohol use. When this group of ‘inconsistent’ respondents is compared with the 915 non‐30‐day current drinkers who reported less than monthly drinking, they reported significantly higher yearly volume, days of five or more drinks, mean social consequences and proportion reporting alcohol dependence.

Conclusions

In population surveys assessing alcohol use, asking about the previous 12 months rather than the past 30 days provides higher estimates of current use, including more days of heavy episodic use.
Vitamin C deficiency accelerates bone loss inducing an increase in PPAR‐γ expression in SMP30 knockout mice
Authors: Park Jin‐Kyu , Lee Eun‐Mi , Kim Ah‐Young , Lee Eun‐Joo , Min Chang‐Woo , Kang Kyung‐Ku , Lee Myeong‐Mi , Jeong Kyu‐Shik
Published: September 2012

Senescence marker protein (SMP) 30 knockout (KO) mice display symptoms of scurvy, including spontaneous bone fractures, and this was considered to be induced by a failure of collagen synthesis owing to vitamin C deficiency. However, low bone mineral density is also known to be associated with spontaneous bone fracture. Therefore, we investigated the effects of vitamin C deficiency on the balance between osteoblasts and osteoclasts in SMP30 KO mice as evidenced by histopathology. All mice were fed a vitamin C‐free diet, and only one group (KV) mice were given water containing 1.5 g/l of vitamin C, whereas wild‐type (WT) and KO mice were given normal drinking tap water without vitamin C for 16 weeks. After 16 weeks, all femur samples were removed for histopathological examination. The femurs of KO mice showed significantly reduced bone area and decreased number of osteoblasts compared with those of WT mice and KV mice. KO mice also exhibited the lowest level of alkaline phosphatase (ALP) expression in their femurs. However, KO mice showed the most elevated expression of the receptor activator of nuclear factor kappa‐B ligand (RANKL). Moreover, KO mice had the strongest peroxisome proliferator‐activated receptor (PPAR)‐γ expression level in their osteoblasts and the highest number of TUNEL‐positive bone marrow cells. Therefore, we concluded that vitamin C deficiency plays an important role in spontaneous bone fracture by inhibiting osteoblast differentiation and promoting transition of osteoblasts to adipocytes, and this could in turn be related to the increased PPAR‐γ expression.
MMP7 is a target of the tumour‐associated antigen EpCAM
Authors: Denzel Sabine , Mack Brigitte , Eggert Carola , Massoner Petra , Stöcklein Nikolas , Kemming Dirk , Harréus Ulrich , Gires Olivier
Published: September 2012

Epithelial cell adhesion molecule (EpCAM) is a single‐transmembrane protein, which is involved in numerous cellular processes including cell adhesion, proliferation, maintenance of stemness of embryonic cells and progenitors, migration and invasion. Activation of signal transduction by EpCAM is warranted by regulated intramembrane proteolysis and nuclear translocation of the intracellular domain EpICD. Here, we describe matrix metalloproteinase 7 (MMP7) as a target gene of EpCAM signalling viaEpICD nuclear translocation. EpCAM and MMP7 expression pattern and levels positively correlated in vitro and in vivo, and were strongly elevated in primary carcinomas of the head and neck area. Hence, MMP7 is a novel target of EpCAM signalling.
Effect of cypermethrin, carbendazim and their combination on male albino rat serum
Authors: Veerappan Muthuviveganandavel , Hwang InHo , Pandurangan Muthuraman
Published: September 2012

Alpha‐cypermethrin and carbendazim are synthetic; α‐cypermethrin belongs to a class of synthetic pyrethroids and carbendazim belongs to the class of carbamate fungicides. The current study was carried out to evaluate the low‐dose exposure of individual and mixed forms of cypermethrin and carbendazim. α‐cypermethrin was used at 0.06, 0.12, 0.30 and 0.60 mg/kg  body weight (bw), carbendazim was at 0.48, 0.96, 2.4 and 4.8 mg/kg bw and combined doses (cypermethrin: 0.06, 0.12, 0.30 and 0.60 mg/kg.bwt + carbendazim: 0.48, 0.96, 2.4 and 4.8 mg/kg.bwt) for 12 h and 24 h. The biochemical parameters and serum markey enzymes were analysed. The biochemical parameters include serum total protein, glucose, cholesterol, urea, uric acid, calcium, phosphorous, albumin and creatinine and serum marker enzymes such as alanine transaminase (ALT), aspartate transaminase (AST), alkaline phosphatase (ALP), γ‐glutamyl transpeptidase (GGT) and amylase were ascertained. Results indicated simultaneous changes in serum marker enzyme activity (ALT, AST, ALP, GGT and amylase) and biochemical markers (*P < 0.05, **P < 0.01 and ***P < 0.001). The experimental results indicate that even low‐dose use of the synthetic pyrethroid carbamate and their combined form results in consequential negative effects on cell function.
Keratins in colorectal epithelial function and disease
Authors: Majumdar Debabrata , Tiernan James P. , Lobo Alan J. , Evans Caroline A. , Corfe Bernard M.
Published: September 2012

Keratins are the largest subgroup of intermediate filament proteins, which are an important constituent of the cellular cytoskeleton. The principally expressed keratins (K) of the intestinal epithelium are K8, K18 and K19. The specific keratin profile of a particular epithelium provides it with strength and integrity. In the colon, keratins have been shown to regulate electrolyte transport, likely by targeting ion transporters to their correct location in the colonocytes.

Keratins are highly dynamic and are subject to post‐translational modifications including phosphorylation, acetylation and glycosylation. These affect the filament dynamics and hence solubility of keratins and may contribute to protection against degradation. Keratin null mice (K8−/−) develop colitis, and abnormal keratin mutations have been shown to be associated with inflammatory bowel disease (IBD). Abnormal expression of K7 and K20 has been noted in colitis‐associated dysplasia and cancers. In sporadic colorectal cancers (CRCs) may be useful in predicting tumour prognosis; a low K20 expression is noted in CRCs with high microsatellite instability; and keratins have been noted as dysregulated in peri‐adenomatous fields. Caspase‐cleaved fragment of K18 (M30) in the serum of patients with CRC has been used as a marker of cancer load and to assess response to therapy. These data suggest an emerging importance of keratins in maintaining normal function of the gastrointestinal epithelium as well as being a marker of various colorectal diseases. This review will primarily focus on the biology of these proteins, physiological functions and alterations in IBD and CRCs.
A global analysis of trait variation and evolution in climbing plants
Authors: Gallagher Rachael V. , Leishman Michelle R.
Published: September 2012

Aim

Climbing plants (lianas, vines, scramblers) are under‐represented in many global datasets that underpin knowledge in functional trait biology, important for ecological theory, conservation and predicting forest dynamics under global change. To address this omission, we tested a set of hypotheses about how the traits of climbers vary with latitude and climate and amongst major biogeographical regions of the world using a comprehensive new, global dataset.

Location

Global.

Methods

Data on seed mass, leaf size, specific leaf area, climbing mechanism, dispersal mode, and growth habit were compiled for 1092 species in 34 countries. For each trait we: (1) quantified the strength of latitudinal gradients using analyses across species and across evolutionary divergences, (2) examined underlying relationships between trait variation and climate variables, (3) tested for phylogenetic signal in traits (the tendency for closely related species to exhibit similar traits), and (4) compared trait variation and phylogenetic clustering between four major biogeographical regions of the world (Africa, the Americas, Asia and Australasia).

Results

We found highly significant relationships between latitude and four traits (growth habit, leaf size, seed mass and specific leaf area, SLA). Leaf size, seed mass and SLA also showed significant relationships with mean annual temperature and precipitation. However, no relationship was found between dispersal mode and latitude or between climbing mechanism and latitude. These results were largely consistent in cross‐species and phylogenetic analyses. All traits, except seed mass, exhibited clear differences between biogeographical regions. SLA and seed mass were the only two traits that did not present a significant phylogenetic signal. Phylogenetic clustering was detected in species from the Americas and Africa, indicating that trait conservatism is important in broad biogeographical regions.

Main conclusions

The functional traits and phylogenetic patterns of climbers differ between biogeographical regions, and from other better‐studied plant growth forms. Species‐level trait differences may hold the key to understanding why climbers are increasing in abundance in some regions of the world, but not in others.
Correlates of restraint and seclusion for adults with intellectual disabilities in community services
Authors: Merineau‐Cote J. , Morin D.
Published: September 2012

Background  Some individuals with intellectual disabilities (IDs) exhibit aggressive behaviour directed towards themselves, others or the environment. Displaying aggressive behaviour is associated with a number of negative consequences such as the exposure to restrictive interventions. This study aims to identify personal and environmental factors related to the use of restrictive measures among persons with IDs living in the community.

Methods  Data for 81 adults with IDs were collected through a mail survey. The questionnaires acquired information on demographic variables, physical health and psychiatric diagnoses, medication, residential setting, support worker experience and prevalence of restraint and seclusion. The type and severity of aggressive behaviours were measured by the Modified Overt Aggression Scale.

Results  The prevalence of restrictive measures was 63.0%: 44.4% seclusion, 42.0% physical restraint and 27.2% mechanical restraint. The mode of communication, anxiolytic medication, severity of the aggressive behaviours, presence of a functional assessment on aggressive behaviours, and support workers' experience with persons with IDs were predictors of restrictive measures.

Conclusion  The results of this study have several clinical implications for practitioners working with persons with IDs who exhibit aggressive behaviours. More research is needed to expand our understanding of the use of restrictive measures and reduce its frequency.
Is body mass index a useful measure of excess body fatness in adolescents and young adults with Down syndrome?
Authors: Bandini L. G. , Fleming R. K. , Scampini R. , Gleason J. , Must A.
Published: September 2012

Background  To determine the validity of body mass index (BMI) to identify excess fatness in youth with Down syndrome (DS).

Methods  Using the Centers for Disease Control and Prevention (CDC) growth reference, we defined overweight (≥85th percentile) and obesity (≥95th percentile) based on participants' age‐ and sex‐specific BMI z‐scores, calculated from measured height and weight. Percentage body fat was measured by dual‐energy X‐ray absorptiometry. We determined sensitivity, specificity, positive predictive value, negative predictive value and efficiency of BMI percentiles to identify excess adiposity relative to elevated percentage body fat cut‐offs developed from the Pediatric Rosetta Body Composition project in 32 youth (20 boys/12 girls), ages 13–21 years with Down syndrome.

Results  For adolescents with Down syndrome using the cut‐off points of 95th percentile for BMI (obesity), sensitivity and specificity were 71% and 96% respectively. Positive predictive value was 83% and negative predictive value was 92%. Overall efficiency was 91%. Sensitivity and specificity for BMI cut‐offs above the 85th percentile (overweight) were 100% and 60% respectively. The positive predictive value was 41% and negative predictive value was 100%. Overall efficiency was 69%.

Conclusion  On the whole, the obesity (≥95th percentile) cut‐off performs better than the overweight cut‐off (85th–94th percentile) in identifying elevated fatness in youth with DS.
Therapy service use among individuals with fragile X syndrome: findings from a US parent survey
Authors: Martin G. E. , Ausderau K. K. , Raspa M. , Bishop E. , Mallya U. , Bailey D. B.
Published: September 2012

Background  Fragile X syndrome (FXS) is known to be associated with a range of developmental challenges, yet the occurrence and intensity of therapy services along with associated factors have not been determined.

Method  In a US national survey, caregivers provided information regarding the therapy services received by their sons (n = 1013) and daughters (n = 283) with FXS (from birth to 63 years; mean = 15.6 years, SD = 10.6). Caregivers reported (1) type, (2) amount, (3) location, and (4) overall satisfaction with services. Associations with other child variables and family income were also examined.

Results  Key findings included that 72% of males and 47% of females were currently receiving at least one type of therapy service; the most common services for both males and females were speech–language therapy (ST) and occupational therapy (OT). Overall, males were more likely to receive therapy services as well as a greater number of services than females. Autism status was significantly associated with both males and females receiving ST and males receiving OT and behaviour management therapy. Therapies were provided in a variety of locations, and parents were generally satisfied with the amount and quality of therapy services. Age‐related declines were evident in the use of services for both males and females, with very few individuals receiving any therapy services after 20 years of age.

Conclusions  This study provides a baseline description of the current state of therapy services for children with FXS, laying a foundation for future research and recommendations for service provision and policy.