bluuebunny/crossref_metadata_2025 huggingface dataset:
Mutant SOD1 inhibits ER‐Golgi transport in amyotrophic lateral sclerosis
Authors: Atkin Julie D. , Farg Manal A. , Soo Kai Ying , Walker Adam K. , Halloran Mark , Turner Bradley J. , Nagley Phillip , Horne Malcolm K.
Published: October 2013

Cu/Zn‐superoxide dismutase is misfolded in familial and sporadic amyotrophic lateral sclerosis, but it is not clear how this triggers endoplasmic reticulum (ER) stress or other pathogenic processes. Here, we demonstrate that mutant SOD1 (mSOD1) is predominantly found in the cytoplasm in neuronal cells. Furthermore, we show that mSOD1 inhibits secretory protein transport from the ER to Golgi apparatus. ER‐Golgi transport is linked to ER stress, Golgi fragmentation and axonal transport and we also show that inhibition of ER‐Golgi trafficking preceded ER stress, Golgi fragmentation, protein aggregation and apoptosis in cells expressing mSOD1. Restoration of ER‐Golgi transport by over‐expression of coatomer coat protein II subunit Sar1 protected against inclusion formation and apoptosis, thus linking dysfunction in ER‐Golgi transport to cellular pathology. These findings thus link several cellular events in amyotrophic lateral sclerosis into a single mechanism occurring early in mSOD1 expressing cells.

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Cu/Zn‐superoxide dismutase (SOD1) is misfolded in familial and sporadic Amyotrophic Lateral Sclerosis, but it is unclear how this triggers endoplasmic reticulum (ER) stress and other cellular events. Here, we show that mutant SOD1 inhibits protein transport from the ER to Golgi apparatus prior to ER stress, Golgi fragmentation and apoptosis, and restoration of transport prevents inclusion formation and apoptosis. COPII: coatomer coat protein II.
Over‐expression of an inactive mutant cathepsin D increases endogenous alpha‐synuclein and cathepsin B activity in SH‐SY5Y cells
Authors: Crabtree Donna , Dodson Matthew , Ouyang Xiaosen , Boyer‐Guittaut Michaël , Liang Qiuli , Ballestas Mary E. , Fineberg Naomi , Zhang Jianhua
Published: October 2013

Parkinson's disease is a neurodegenerative movement disorder. The histopathology of Parkinson's disease comprises proteinaceous inclusions known as Lewy bodies, which contains aggregated α‐synuclein. Cathepsin D (CD) is a lysosomal protease previously demonstrated to cleave α‐synuclein and decrease its toxicity in both cell lines and mouse brains in vivo. Here, we show that pharmacological inhibition of CD, or introduction of catalytically inactive mutant CD, resulted in decreased CD activity and increased cathepsin B activity, suggesting a possible compensatory response to inhibition of CD activity. However, this increased cathepsin B activity was not sufficient to maintain α‐synuclein degradation, as evidenced by the accumulation of endogenous α‐synuclein. Interestingly, the levels of LC3, LAMP1, and LAMP2, proteins involved in autophagy‐lysosomal activities, as well as total lysosomal mass as assessed by LysoTracker flow cytometry, were unchanged. Neither autophagic flux nor proteasomal activities differs between cells over‐expressing wild‐type versus mutant CD. These observations point to a critical regulatory role for that endogenous CD activity in dopaminergic cells in α‐synuclein homeostasis which cannot be compensated for by increased Cathepsin B. These data support the potential need to enhance CD function in order to attenuate α‐synuclein accumulation as a therapeutic strategy against development of synucleinopathy.

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Insufficiencies in the autophagy‐lysosome pathway may contribute to neurodegenerative disease pathogenesis and progression. We found that a catalytically inactive mutant cathepsin D (D295N CD) decreases endogenous CD activity, similar to inhibition of endogenous CD activity by the addition of CD inhibitor, PepA, leads to accumulation of α‐synuclein, without significant changes of overall autophagy activities. As accumulation of α‐synuclein is a main pathological feature of Parkinson's disease (PD), this study further demonstrate a crucial role of CD activities in attenuation of synucleinopathies such as PD.
The Role of Friends and Peers in Adolescent Body Dissatisfaction: A Review and Critique of 15 Years of Research
Authors: Webb Haley J. , Zimmer‐Gembeck Melanie J.
Published: October 2013

We review the research conducted in the past 15 years concerned with the role of friends and peers in adolescent body dissatisfaction. A number of friend and peer group characteristics have been associated with heightened body dissatisfaction both concurrently and longitudinally. Most widely studied and more consistently linked to body dissatisfaction are appearance teasing and perceived pressure from friends to be thin. Other interactions between friends and peers that communicate and strengthen appearance ideals and direct attention to appearance also have been associated with body dissatisfaction, including appearance‐related conversations, friends' modeling of dieting behavior, and perceptions of friends' appearance‐related attitudes. Finally, the research is critiqued, new directions considered, and strategies are proposed that could be implemented to reduce body dissatisfaction.
Peer Stress in Preadolescence: Linking Physiological and Coping Responses With Social Competence
Authors: Erath Stephen A. , Tu Kelly M.
Published: October 2013

This study examined associations between real‐time physiological and coping responses in the context of salient peer stress experiences in preadolescence, as well as independent and interactive associations linking physiological and coping responses with social competence. Physiological responses included respiratory sinus arrhythmia reactivity (RSAR) and skin conductance level reactivity (SCLR) during laboratory‐based peer‐evaluative stress experiences. Engaged and disengaged coping strategies were assessed with real‐time responses to peer‐evaluative stress (assessed immediately following peer‐evaluative stress experiences in the laboratory) and with questionnaire‐based responses to peer victimization. Analyses consistently revealed associations between lower RSAR (lower vagal withdrawal) and lower teacher‐reported social competence among preadolescents with disengaged (and low engaged) coping responses to peer‐evaluative stress in the laboratory, as well as disengaged coping responses to peer victimization.
Oral dextrose for analgesia in neonates during nasogastric tube insertion: A randomised controlled trial
Authors: Ravishankar Arjun , Thawani Rajat , Dewan Pooja , Das Saurabhi , Kashyap Archana , Batra Prerna , Faridi Moonis Mohammed Akbar
Published: October 2013

Aim

This study aims to determine if oral dextrose solution can mitigate the pain response to nasogastric tube (NGT) insertion in neonates.

Methods

The study was a double‐blinded, placebo‐controlled, randomised controlled trial. One hundred and fifty consecutive neonates were randomised into three groups to receive 25% dextrose (D25), or 10% dextrose (D10) or placebo (distilled water). An NGT was inserted after giving 2 mL of one of the solutions orally. Pain response was assessed using the Premature Infant Pain Profile (PIPP), and the duration of cry was noted within 60 s of the intervention. Total PIPP score, duration of cry, change in heart rate and oxygen saturation (SpO2) were compared among the three groups.

Results

Neonates who received D25 had significantly lesser pain response to NGT insertion in terms of lower PIPP score (P < 0.05) and duration of cry (P = 0.001) compared to D10. There was a significantly smaller increase in heart rate and decrease in SpO2 (P < 0.05). In comparison with placebo, D10 significantly decreased duration of cry (P < 0.05) but not PIPP score.

Conclusion

Oral D25 was effective in reducing the pain response during NGT insertion in neonates when compared with oral D10 and placebo. Oral D10 was not found to have a potent analgesic effect for the same.
Reducing the pain of intramuscular benzathine penicillin injections in the rheumatic fever population of Counties Manukau District Health Board
Authors: Russell Kathryn , Nicholson Ross , Naidu Rajeshni
Published: October 2013

Aim

To evaluate the effectiveness of lignocaine and a vibrating device with cold pack (Buzzy) for pain management of intramuscular (IM) benzathine penicillin injections in the rheumatic fever (RF) population of Counties Manukau District Health Board (CMDHB).

Methods

Four hundred and five RF patients receiving four weekly injections in the CMDHB region were offered 0.25 mL of lignocaine 2% and Buzzy for pain management of their injections. The lignocaine was mixed in with the benzathine penicillin prior to administration. A pre and post survey assessed pain scores during, 2‐min and 1‐h post administration and the following day. Questions assessing fear were also included.

Results

In total 49% of patients responded to the survey. There were 118 surveys paired pre and post intervention. Pain at injection delivery and fear scores were higher for participants ≤13 years of age. Overall pain scores were significantly reduced over all four time points. There was also a significant reduction in fear of the injections. Lignocaine and Buzzy resulted in a greater reduction in pain than lignocaine alone, only when the injection was being administered to those ≤13 years. After five months, a file audit showed that 66% of all RF patients of CMDHB were choosing to use lignocaine and 43% were choosing to use Buzzy. In total, 71% of all RF patients were choosing one or both of these analgesic interventions.

Conclusion

This study demonstrates a clinically important reduction in the subjective experience of pain when two analgesic interventions were offered with IM delivery of benzathine penicillin. These pain reduction strategies have been popular in the RF population of CMDHB with a 71% uptake and a corresponding reduction in pain and fear.
Interpretation of World Health Organization growth charts for assessing infant malnutrition: A randomised controlled trial
Authors: Ahmad Umar N , Yiwombe Mwawi , Chisepo Patrick , Cole Tim J , Heikens Geert T , Kerac Marko
Published: October 2013

Aims

The study aims to assess the effects of switching from National Center for Health Statistics (NCHS) growth references to World Health Organization (WHO) growth standards on health‐care workers' decisions about malnutrition in infants aged <6 months.

Methods

We conducted a single blind randomised crossover trial involving 78 health‐care workers (doctors, clinical officers, health service assistants) in Southern Malawi. Participants were offered hypothetical clinical scenarios with the same infant plotted on NCHS‐based weight‐for‐age charts and again on WHO‐based charts. Additional scenarios compared growth charts with a single final weight against charts with the same final weight plus a preceding growth trend. Reported (i) level of concern, (ii) referral suggestions and (iii) feeding advice were elicited with a questionnaire.

Results

Even after adjusting for health‐care worker type and experience, using WHO rather than NCHS charts increased: (i) concern: aOR 4.4 (95% CI 2.4–8.1); (ii) odds of referral: aOR 5.1 (95% CI 2.4–10.8); and (iii) odds of feeding advice which would interrupt exclusive breastfeeding (aOR 2.4, 95% CI 1.2–4.9). A preceding steady growth trend line did not affect concern, referral or feeding advice.

Conclusions

Health‐care workers take insufficient account of linear growth trend, clinical and feeding status when interpreting a low weight‐for‐age plot. Because more infants <6 months fall below low centile lines on WHO growth charts, their use may increase inappropriate referrals and risks undermining already low rates of exclusive breastfeeding. To avoid their being misinterpreted in this way, WHO charts need accompanying guidelines and training materials that recognise and address this possible adverse effect.
Cellular localization and kinetics of the rice melatonin biosynthetic enzymes SNAT and ASMT
Authors: Byeon Yeong , Lee Hyoung Yool , Lee Kyungjin , Park Sangkyu , Back Kyoungwhan
Published: October 2013

Serotonin N‐acetyltransferase (SNAT) and N‐acetylserotonin methyltransferase (ASMT) are the final two enzymes in the melatonin synthesis pathway in plants. Although their corresponding genes have been cloned, their cellular localization and enzymatic characteristics are unknown. Using confocal microscopy, we showed that SNAT protein is localized in chloroplasts, whereas ASMT is expressed in the cytoplasm. In vitro measurement of ASMT enzyme activity revealed a peak of activity in roots, but SNAT enzyme activity was not detected in any plant tissues. This may be attributed in part to an effect of chlorophyll because SNAT enzyme activity was greatly inhibited by chlorophyll in a dose‐dependent manner. Because the SNAT protein of cyanobacteria is thermophilic, we examined the effect of temperature on the activity of the rice SNAT and ASMT enzymes. Purified recombinant rice SNAT and ASMT enzymes had an optimum temperature for activity of 55°C. The Km and Vmax values for SNAT at 55°C were 270 μm and 3.3 nmol/min/mg protein, whereas the Km and Vmax for ASMT were 222 μm and 9 nmol/min/mg protein, respectively. The catalytic efficiency (Vmax/Km) values of SNAT and ASMT were 16‐fold and 4054‐fold higher at 55°C than at 30°C suggestive of increased melatonin production at high temperature in plants.
Two alternatives to the stress‐gradient hypothesis at the edge of life: the collapse of facilitation and the switch from facilitation to competition
Authors: Michalet Richard , Le Bagousse‐Pinguet Yoann , Maalouf Jean‐Paul , Lortie Christopher J.
Published: October 2013

New evidence demonstrates that facilitation plays a crucial role even at the edge of life in Maritime Antarctica. These findings are interpreted as support for the stress‐gradient hypothesis (SGH) – a dominant theory in plant community ecology that predicts that the frequency of facilitation directly increases with stress. A recent development to this theory, however, proposed that facilitation often collapses at the extreme end of stress and physical disturbance gradients. In this paper, we clarify the current debate on the importance of plant interactions at the edge of life by illustrating the necessity of separating the two alternatives to the SGH, namely the collapse of facilitation, and the switch from facilitation to competition occurring in water‐stressed ecosystems. These two different alternatives to the SGH are currently often amalgamated with each other, which has led to confusion in recent literature. We propose that the collapse of facilitation is generally due to a decrease in the effect of the nurse plant species, whilst the switch from facilitation to competition is driven by environmental conditions and strategy of the response species. A clear separation between those two alternatives is particularly crucial for predicting the role of plant–plant interactions in mediating species responses to global change.
A long‐term perspective on woody plant encroachment in the desert southwest, New Mexico, USA
Authors: Brunelle A. , Minckley T.A. , Delgadillo J. , Blissett S.
Published: October 2013

Objective

To assess potential causes of woody plant encroachment into desert grassland systems using a 5500‐yr‐old sediment record from a ciénega in New Mexico.

Location

Cloverdale Ciénega, southwestern New Mexico.

Methods

Utilizing fossil pollen and charcoal preserved in wetland sediments, a long‐term record of variations in vegetation composition and fire activity was generated. The record was compared to published data on drought, the El Niño/Southern Oscillation (ENSO), carbon dioxide concentrations and known dates of grazing impacts to evaluate various hypotheses regarding the timing and causes of woody plant encroachment in desert grasslands.

Results

The woody plant encroachment observed in the past 200 yrs is unprecedented in the context of the previous 5500 yrs of vegetation history. The observed increase in woody plant abundance was not related to droughts or changes in ENSO event frequency, and was contemporaneous with the rise in atmospheric CO2 and known grazing impacts. Charcoal influx increased in conjunction with historic woody plant pollen abundance and therefore the encroachment was not related to fire exclusion.

Conclusions

The long‐term sediment record from Cloverdale Ciénega provides the context for evaluation of the various hypotheses for woody plant encroachment. At Cloverdale Ciénega we demonstrate that woody plant encroachment of the last 200 yrs is unprecedented and outside of the historic natural range of variability of the previous five millennia. We also demonstrate that woody plant encroachment is not related to climatological changes such as drought or increases in ENSO frequency. Increases in woody plant pollen are associated with increases in carbon dioxide, and high‐intensity grazing during the late 19th and early 20th centuries.
The importance of an evolutionary perspective in conservation policy planning
Authors: Moritz Craig C. , Potter Sally
Published: October 2013

Prioritization of taxa for conservation must rest on a foundation of correctly identified species boundaries, enhanced by an understanding of evolutionary history and phylogenetic relationships. Therefore, we can incorporate both evolutionary and ecological processes into efforts to sustain biodiversity. In this issue of Molecular Ecology, Malaney & Cook () highlight the critical value of an evolutionary biogeographical approach, combining multilocus phylogeography with climatic niche modelling to infer phylogenetically weighted conservation priorities for evolutionary lineages of jumping mice across North America. Remarkably, they find that the Preble's meadow jumping mouse (Zapus hudsonius preblei), long debated as a threatened taxon, in fact represents the southern terminus of a relatively uniform lineage that expanded well into Alaska during the Holocene. By contrast, some other relictual and phylogenetically divergent taxa of jumping mice likely warrant greater conservation priority. This study highlights the value of integrative approaches that place current taxonomy in a broader evolutionary context to identify taxa for conservation assessment, but also highlights the challenges in maintaining potential for adaptive responses to environmental change.
Outlier SNP markers reveal fine‐scale genetic structuring across European hake populations (Merluccius merluccius)
Authors: Milano Ilaria , Babbucci Massimiliano , Cariani Alessia , Atanassova Miroslava , Bekkevold Dorte , Carvalho Gary R. , Espiñeira Montserrat , Fiorentino Fabio , Garofalo Germana , Geffen Audrey J. , Hansen Jakob. H. , Helyar Sarah J. , Nielsen Einar E. , Ogden Rob , Patarnello Tomaso , Stagioni Marco ,   FishPopTrace Consortium, Tinti Fausto , Bargelloni Luca
Published: October 2013

Shallow population structure is generally reported for most marine fish and explained as a consequence of high dispersal, connectivity and large population size. Targeted gene analyses and more recently genome‐wide studies have challenged such view, suggesting that adaptive divergence might occur even when neutral markers provide genetic homogeneity across populations. Here, 381 SNPs located in transcribed regions were used to assess large‐ and fine‐scale population structure in the European hake (Merluccius merluccius), a widely distributed demersal species of high priority for the European fishery. Analysis of 850 individuals from 19 locations across the entire distribution range showed evidence for several outlier loci, with significantly higher resolving power. While 299 putatively neutral SNPs confirmed the genetic break between basins (FCT = 0.016) and weak differentiation within basins, outlier loci revealed a dramatic divergence between Atlantic and Mediterranean populations (FCT range 0.275–0.705) and fine‐scale significant population structure. Outlier loci separated North Sea and Northern Portugal populations from all other Atlantic samples and revealed a strong differentiation among Western, Central and Eastern Mediterranean geographical samples. Significant correlation of allele frequencies at outlier loci with seawater surface temperature and salinity supported the hypothesis that populations might be adapted to local conditions. Such evidence highlights the importance of integrating information from neutral and adaptive evolutionary patterns towards a better assessment of genetic diversity. Accordingly, the generated outlier SNP data could be used for tackling illegal practices in hake fishing and commercialization as well as to develop explicit spatial models for defining management units and stock boundaries.
Mizoribine selectively attenuates monocyte chemoattractant protein‐1 production in cultured human glomerular mesangial cell: A possible benefit of its use in the treatment of lupus nephritis
Authors: Aizawa Tomomi , Imaizumi Tadaatsu , Tsuruga Kazushi , Watanabe Shojiro , Chiba Yuki , Matsumiya Tomoh , Yoshida Hidemi , Tanaka Hiroshi
Published: October 2013

Aim

Mizoribine (MZR) is a selective inhibitor of the inosine monophosphate dehydrogenase – a key enzyme in the de novo pathway of guanine nucleotides – that was developed in Japan. Besides its immunosuppressive effects, MZR has recently been reported to suppress the progression of histologic chronicity via suppression of macrophage infiltration of the interstitium in selected patients with lupus nephritis.

Methods

We examine the direct effect of MZR in human mesangial cells on the expression of functional molecules including monocyte chemoattractants in cultured human mesangial cells (MCs) treated with polyinosinic‐polycytidylic acid (poly IC), a synthetic analogue of viral dsRNA, that makes ‘pseudoviral’ infection, and analyzed the expression of target molecules by reverse transcriptase‐polymerase chain reaction and Western blotting. Thereafter, the effect of MZR on the expressions was examined.

Results

Pretreatment of cells with MZR partially, but significantly, attenuates the expression of monocyte chemoattractant protein (MCP)‐1 mRNA and protein, whereas the poly IC‐induced expressions for the other functional molecules, such as CCL5, fractalkine and IL‐8 were not influenced by MZR treatment. On the other hand, pretreatment of cells with tacrolimus did not suppress the expression of MCP‐1 mRNA.

Conclusion

Mizoribine itself selectively attenuated the expression of MCP‐1 both mRNA and protein levels in MCs treated with poly IC; that is, a possible model of ‘pseudoviral’ infection, which may be involved in the pathogenesis of lupus nephritis.
Psychophysiological responses to visceral and somatic pain in functional chest pain identify clinically relevant pain clusters
Authors: Farmer A. D. , Coen S. J. , Kano M. , Naqvi H. , Paine P. A. , Scott S. M. , Furlong P. L. , Lightman S. L. , Knowles C. H. , Aziz Q.
Published: October 2013

Background

Despite chronic pain being a feature of functional chest pain (FCP) its experience is variable. The factors responsible for this variability remain unresolved. We aimed to address these knowledge gaps, hypothesizing that the psychophysiological profiles of FCP patients will be distinct from healthy subjects.

Methods

20 Rome III defined FCP patients (nine males, mean age 38.7 years, range 28–59 years) and 20 healthy age‐, sex‐, and ethnicity‐matched controls (nine males, mean 38.2 years, range 24–49) had anxiety, depression, and personality traits measured. Subjects had sympathetic and parasympathetic nervous system parameters measured at baseline and continuously thereafter. Subjects received standardized somatic (nail bed pressure) and visceral (esophageal balloon distension) stimuli to pain tolerance. Venous blood was sampled for cortisol at baseline, post somatic pain and post visceral pain.

Key Results

Patients had higher neuroticism, state and trait anxiety, and depression scores but lower extroversion scores vs controls (all p < 0.005). Patients tolerated less somatic (p < 0.0001) and visceral stimulus (p = 0.009) and had a higher cortisol at baseline, and following pain (all p < 0.001). At baseline, patients had a higher sympathetic tone (p = 0.04), whereas in response to pain they increased their parasympathetic tone (p ≤ 0.008). The amalgamating the data, we identified two psychophysiologically distinct ‘pain clusters’. Patients were overrepresented in the cluster characterized by high neuroticism, trait anxiety, baseline cortisol, pain hypersensitivity, and parasympathetic response to pain (all p < 0.03).

Conclusions & Inferences

In future, such delineations in FCP populations may facilitate individualization of treatment based on psychophysiological profiling.
Conversion disorder and mass psychogenic illness in child neurology
Authors: Mink Jonathan W.
Published: October 2013

A common problem faced by neurologists is the existence of disorders that present with neurological symptoms but do not have identifiable neurological bases. Conversion disorder is the most common of these disorders. In some situations, members of a cohesive social group will develop the same or similar symptoms. This review discusses conversion disorder in children, with an emphasis on function movement disorders. It also reviews a recent occurrence of mass psychogenic illness in New York State with discussion of the key features of mass psychogenic illness.
Translational issues in targeting brown adipose tissue thermogenesis for human obesity management
Authors: Dulloo Abdul G.
Published: October 2013

The recent advancements in unraveling novel mechanisms that control the induction, (trans)differentiation, proliferation, and thermogenic activity and capacity of brown adipose tissue (BAT), together with the application of imaging techniques for human BAT visualization, have generated optimism that these advances will provide novel strategies for targeting BAT thermogenesis, leading to efficacious and safe obesity therapies. This paper first provides an overview of landmark events of the past few decades that have been driving the search for pharmaceutical and nutraceutical compounds that would increase BAT thermogenesis for obesity management. It then addresses issues about what could be expected from an ideal thermogenic antiobesity approach, in particular to what extent daily energy expenditure will need to increase in order to achieve long‐term weight loss currently achievable only through bariatric surgery, and whether the human body will have enough thermogenic capacity to reach this target weight loss by future therapies focused on BAT.
Characteristics of patients complaining of halitosis and factors associated with halitosis
Authors: Lu H‐X , Tang C , Chen X , Wong MCM , Ye W
Published: October 2013

Objectives

To describe the characteristics of patients who visited halitosis clinic and to investigate the factors that may associate with halitosis.

Materials and Methods

Nine hundred and eleven patients, who visited halitosis clinic for consultations, underwent organoleptic tests and volatile sulfur compound (VSC) measurements with a portable sulfide monitor. The oral health of patients, including dental caries, oral hygiene, and gingival inflammation status, was assessed. Questionnaires were used to obtain information on demographics, oral hygiene practices, and dietary habits.

Results

Of the 911 patients, more females than males visited the clinic. Patients’ age ranged from 18 to 82 years (mean ± s.d.: 40.8 ± 14.1). Almost 30% of patients had complained of halitosis for over 5 years before looking into treatments. Approximately half of the patients self‐perceived that they were unable to get close to others. Around 77% of patients had halitosis. Results of multiple logistic regressions for organoleptic scores andVSCvalues showed that tongue coating and tongue scraping were significantly associated with halitosis (P < 0.05).

Conclusions

Among these Chinese patients, over three‐quarters of patients had halitosis, and negative impacts on social communications were observed. Tongue coating was the most important factor responsible for halitosis.
Molecular cytogenetic characterization of two partial wheat Elytrigia elongata amphiploids resistant to powdery mildew
Authors: He Fang , Xu Jinqiu , Qi Xiaolei , Bao Yinguang , Li Xingfeng , Zhao Fengtao , Wang Honggang
Published: October 2013

Two new partial amphiploids SN20 and SN122, derived from crosses between Elytrigia elongata and common wheat Yannong15 and Shannongfu63, were found resistant to powdery mildew, a serious fungal wheat disease. Cytogenetic observations showed that each SN20 and SN122 plant had 56 chromosomes. The chromosomes in most pollen mother cells formed approximately 28 bivalents, thereby showing a high degree of cytogenetic stability. Genomic in situ hybridization using St‐genomic DNA from Pseudoroegneria strigosa as a probe and ABD‐genomic DNA from Chinese Spring wheat as a blocker demonstrated that the genomic formulas for the alien chromosomes in SN20 and SN122 were 2 St + 10 JS + 2 J and 2 St + 8 JS + 4 J, respectively. These wheat E. elongata partial amphiploids represent a potential novel source of resistance to powdery mildew for wheat breeding.
Selection by seed weight improves traits related to seedling establishment in Panicum coloratum L. var. makarikariense
Authors: Giordano Mabel C. , Berone Germán D. , Tomás María A.
Published: October 2013

Selection for heavy seed was implemented to overcome establishment problems in Panicum coloratum var. makarikariense. A collection covering the genetic diversity of the species available in Argentina was used as a base population (BP), and two cycles of recurrent phenotypic selection to increase seed weight were performed. Seedlings, obtained from seeds from each cycle and the BP, were further evaluated in the greenhouse. An increase of 17% in mean seed weight was obtained after two cycles of recurrent selection. No differences in germination or emergence were detected among the selected materials and the BP. However, seedlings from selected materials were taller and showed higher leaf elongation rate, adventitious roots elongation rate and total growth rate than that from BP. This research also revealed that in P. coloratum var. makarikariense, more vigorous seedlings can be selected from genotypes that produce heavier seeds.
Identification of novelQTLfor leaf traits in soybean
Authors: Jun Tae‐Hwan , Freewalt Keith , Michel Andy P. , Mian Rouf
Published: October 2013

Several leaf traits of soybean (Glycine maxL.Merr.), including leaf area (LA), leaf shape (LS) and specific leaf weight (SLW) may be related to soybean yield. The objective of this study was to identify novel quantitative trait loci (QTL) forLA,LSandSLWin a recombinant inbred line (RIL) population. The phenotype data were collected in 2011 and 2012 for 93 F7:10RILs using a randomized complete block design with 2 replicates each year. Five hundred and sixteen single‐nucleotide polymorphism (SNP) markers and the phenotype data were used to detectQTLusing single marker analysis (SMA) and composite interval mapping (CIM). Single markers analysis identified 26QTLfor the three traits, of which 17 were novel and the rests were previously reportedQTL. Most of theseQTLwere also identified byCIM. MostQTLreported in this study were in close proximity (<1 cM) of one or moreSNPmarkers. These publicly availableSNPmarkers with close linkage toLA,LSandSLWshould be useful for marker‐assisted breeding for these traits.
Early evaluation of popcorn inbred lines for phosphorus use efficiency
Authors: Mundim Gabriel B. , Viana José Marcelo S. , Maia Ciro
Published: October 2013

Phosphorus use efficiency (PUE) evaluation based on shoot dry weight in the early stages of plant development can be a useful measure to identify genotypes that are superior in phosphorus (P) use. The objectives of this study were to (i) identify inbred lines that are efficient and inefficient in P use, (ii) assess the genetic diversity among the inbred lines based on traits related to PUE, (iii) investigate the relationship among traits related to PUE and its components and (iv) estimate the expected responses to selection for increasing PUE. Twenty‐three S6 popcorn inbred lines were evaluated under high and low P, and several traits related to PUE and its components were measured. Efficient and inefficient inbred lines under each P level were identified, and the genetic diversity assessment grouped these inbred lines in opposite clusters. Phosphorus acquisition efficiency (PAE) was the most important component of PUE in the early stages of plant development, and the direct selection for PAE seems to be the best method for increasing PUE in these stages.
Quality of Life Impairment in Children and Adolescents with Vitiligo
Authors: Silverberg Jonathan I. , Silverberg Nanette B.
Published: October 2013

Vitiligo significantly affects quality of life (QOL) in adults, but little is known about the effect on QOL of pediatric vitiligo and whether the extent, distribution, and duration of vitiligo are associated with QOL. We performed an online parental questionnaire‐based study (N = 350) regarding children ages 0 to 17 years with vitiligo, including validated questions about body surface area (BSA), distribution, and age of onset of vitiligo, associated symptoms, and QOL using the Children's Dermatology Life Quality Index (CDLQI). Vitiligo negatively affected numerous aspects of and total CDLQI score (median 3.0, interquartile range 5.0). Their vitiligo lesions did not bother only 4.1% of teenagers ages 15 to 17 years, versus 45.6% of children ages 0 to 6 years and 50.0% of those ages 7 to 14 years (p < 0.001). There was no association between the child's age and whether the child's vitiligo bothered the parents (p = 0.27). The most bothersome sites of vitiligo lesions for children and parents were the face (25.6% and 37.4%, respectively) and legs (26.2% and 26.2%, respectively). Eighty‐two patients (30.1%) reported itching and painful skin within the past week. Using multivariate ordinal logistic regression models, it was found that an affected BSA of more than 25% was associated with self‐consciousness, difficulty with friendships and schoolwork, and teasing and bullying. Lesions on the face and arms were associated with teasing and bullying. The extent of vitiligo is associated with QOL impairment in children and adolescents, especially self‐consciousness, but also bullying and teasing. Different distributions of vitiligo lesions are associated with different aspects of QOL impairment. Teenagers ages 15 to 17 years seem to experience the most self‐consciousness of all pediatric age groups.
Tinea Capitis Mimicking Dissecting Cellulitis
Authors: Torok Rachel D. , Bellet Jane S.
Published: October 2013

Tinea capitis is a common disease of childhood that typically follows one of several clinical patterns. Our patient and several previously reported cases demonstrate the existence of a dissecting cellulitis‐like presentation of tinea capitis. This variant should be recognized to prevent misdiagnosis of dissecting cellulitis and allow proper treatment to prevent scarring alopecia.
Novel CTSK mutation resulting in an entire exon 2 skipping in a Thai girl with pycnodysostosis
Authors: Utokpat Pattarapa , Panmontha Wipa , Tongkobpetch Siraprapa , Suphapeetiporn Kanya , Shotelersuk Vorasuk
Published: October 2013

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro‐osteolysis of the distal phalanges, bone fragility and skull deformities. Mutations in the cathepsin K (CTSK) gene, which encodes a lysosomal cysteine protease highly expressed in osteoclasts, have been found to be responsible for the disease. We identified a Thai girl with pycnodysostosis. Her parents were first cousins. Polymerase chain reaction sequencing of the entire coding regions of CTSK of the proband's complementary DNA revealed that the whole exon 2 was skipped. We subsequently amplified exon 2 using genomic DNA, which showed that the patient was homozygous for a c.120G>A mutation. The mutation was located at the last nucleotide of exon 2. Its presence was confirmed by restriction enzyme analysis using BanI. The skipping of exon 2 eliminates the normal start codon. The mutation has never been previously reported, thus the current report expands the CTSK mutational spectrum.
Young athlete with sudden cardiac arrest treated with therapeutic hypothermia
Authors: Kojima Katsuaki , Sato Akihiro , Yamashita Yukio , Ishihara Jun , Aoyagi Hideshi , Okishige Kaoru
Published: October 2013

Reported herein is a coronary anomaly that occurred in a young adolescent athlete who presented with cardiopulmonary arrest. The patient was resuscitated and treated with therapeutic hypothermia. The patient had no associated neurological complications at follow up. Enhanced computed tomography of the heart indicated an anomalous left main coronary artery originating from the right coronary sinus and coursing between the aorta and the pulmonary artery. The patient underwent surgical intervention with coronary artery bypass grafting to prevent symptom recurrence.
Intussusception secondary to anaphylactic reaction to salmon roe (ikura)
Authors: Takeuchi Masato , Oda Yoichiro , Suzuki Isao
Published: October 2013

Anaphylactic food reaction often involves gastrointestinal symptoms, such as vomiting and abdominal pain, but to date, there have been no publications documenting the association between food hypersensitivity and intussusception. Herein is reported the case of a 2‐year‐old boy with intussusception accompanied by anaphylactic food reaction. The patient without known allergies complained of severe abdominal pain following ingestion of salmon roe for the first time. Dyspnea, wheezing and generalized urticaria also developed. Subsequently, he had stools containing jelly‐like blood with mucus. At hospital arrival, physical examination identified an abdominal mass in the right lower quadrant; imaging confirmed the diagnosis of colo‐colic intussusception. This patient was successfully treated with enema and no pathological findings were identified via radiology. Laboratory results supported the presence of IgE‐mediated allergy to salmon roe in the present patient. To our knowledge, this is the first report to describe the possible association between intussusception and a hypersensitive food reaction.
Cardiovascular risk factors in children after kidney transplantation – From short‐term to long‐term follow‐up
Authors: Kaidar Maital , Berant Michael , Krauze Irit , Cleper Roxana , Mor Eitan , Bar‐Nathan Nathan , Davidovits Miriam
Published: October 2013

Cardiovascular‐related mortality is 100‐fold higher in pediatric renal transplant recipients than in the age‐matched general population. Seventy‐seven post‐renal transplant children's charts were reviewed for cardiovascular risk factors at two and six months after transplantation (short term) and at two yr after transplantation and the last follow‐up visit (mean 7.14 ± 3.5 yr) (long term). Significant reduction was seen in cardiovascular risk factors prevalence from two months after transplantation to last follow‐up respectively: Hypertension from 52.1% to 14%, hypercholesterolemia from 48.7% to 33%, hypertriglyceridemia from 50% to 12.5%, anemia from 29.6% to 18.3%, hyperparathyroidism from 32% to 18.3% and hyperglycemia from 11.7% to 10%, and left ventricular hypertrophy from 25.8% at short term to 15%. There was an increase in the prevalence of obesity from 1.5% to 3.9% and of CKD 3–5 from 4.75% to 24%. The need for antihypertensive treatment decreased from 54% to 42%, and the percentage of patients controlled by one medication rose from 26% to 34%, whereas the percentage controlled by 2, 3, and 4 medications decreased from 21.9%, 5.5%, and 1.4% to 6%, 2%, and 0. Children after renal transplantation appear to have high rates of cardiovascular risk factors, mainly on short‐term follow‐up.
Extramedullary hematopoiesis in pyogenic granuloma
Authors: Waraasawapati Sakda , Koonmee Supinda , Kusama Hiroshi , Kudo Motoshige
Published: October 2013

Extramedullary hematopoiesis (EMH) suggests the presence of hematopoietic stem cells (HSC) outside bone marrow. EMH has been reported, albeit rarely, in pyogenic granuloma (PG), a polypoid lobular capillary hemangioma. However, statistical data have hitherto been lacking on the actual incidence of EMH in PG. Therefore, we here reviewed 157 consecutive cases using routine diagnostic surgical slides and found unequivocal EMH in 17 (10.8%). This indicates that EMH is a rather common finding in PG, which could thus have strong potential to be an important resource for the study of HSC.
Assessment of pollen reward and pollen availability in Solanum stramoniifolium and Solanum paniculatum for buzz‐pollinating carpenter bees
Authors: Burkart A. , Schlindwein C. , Lunau K.
Published: October 2013

The two widespread tropical Solanum species S. paniculatum and S. stramoniifolium are highly dependent on the visits of large bees that pollinate the flowers while buzzing them. Both Solanum species do not offer nectar reward; the rewarding of bees is thus solely dependent on the availability of pollen. Flower visitors are unable to visually assess the amount of pollen, because the pollen is hidden in poricidal anthers. In this study we ask whether and how the amount of pollen determines the attractiveness of flowers for bees. The number of pollen grains in anthers of S. stramoniifolium was seven times higher than in S. paniculatum. By contrast, the handling time per five flowers for carpenter bees visiting S. paniculatum was 3.5 times shorter than of those visiting S. stramoniifolium. As a result foraging carpenter bees collected a similar number of pollen grains per unit time on flowers of both species. Experimental manipulation of pollen availability by gluing the anther pores showed that the carpenter bees were unable to detect the availability of pollen by means of chemical cues before landing and without buzzing. Our study shows that the efficiency of pollen collecting on S. paniculatum is based on large inflorescences with short between‐flower search times and short handling time of individual flowers, whereas that of S. stramoniifolium relies on a large amount of pollen per flower. Interestingly, large carpenter bees are able to adjust their foraging behaviour to drastically different strategies of pollen reward in otherwise very similar plant species.
Hyperventilation and exhaustion syndrome
Authors: Ristiniemi Heli , Perski Aleksander , Lyskov Eugene , Emtner Margareta
Published: October 2013

Chronic stress is among the most common diagnoses in Sweden, most commonly in the form of exhaustion syndrome (ICD‐10 classification – F43.8). The majority of patients with this syndrome also have disturbed breathing (hyperventilation). The aim of this study was to investigate the association between hyperventilation and exhaustion syndrome. Thirty patients with exhaustion syndrome and 14 healthy subjects were evaluated with the Nijmegen Symptom Questionnaire (NQ). The participants completed questionnaires about exhaustion, mental state, sleep disturbance, pain and quality of life. The evaluation was repeated 4 weeks later, after half of the patients and healthy subjects had engaged in a therapy method called ‘Grounding’, a physical exercise inspired by African dance. The patients reported significantly higher levels of hyperventilation as compared to the healthy subjects. All patients’ average score on NQ was 26.57 ± 10.98, while that of the healthy subjects was 15.14 ± 7.89 (t = −3.48, df = 42, p < 0.001). The NQ scores correlated strongly with two measures of exhaustion (Karolinska Exhaustion Scale KES r = 0.772, p < 0.01; Shirom Melamed Burnout Measure SMBM r = 0.565, p < 0.01), mental status [Hospital Anxiety and Depression Score (HADS) depression r = 0.414, p < 0.01; HADS anxiety r = 0.627, p < 0.01], sleep disturbances (r = −0.514, p < 0.01), pain (r = −.370, p < 0.05) and poor well‐being (Medical Outcomes Survey Short Form 36 questionnaire‐ SR Health r = −0.529, p < 0.05). In the logistic regression analysis, the variance in the scores from NQ were explained to a high degree (R2 = 0.752) by scores in KES and HADS. The brief Grounding training contributed to a near significant reduction in hyperventilation (F = 2.521, p < 0.124) and to significant reductions in exhaustion scores and scores of depression and anxiety. The conclusion is that hyperventilation is common in exhaustion syndrome patients and that it can be reduced by systematic physical therapy such as Grounding.
Bone mineral density, growth, pubertal development and other parameters in Brazilian children and young adults with sickle cell anaemia
Authors: Meeuwes M. , Souza de Carvalho T. F. , Cipolotti R. , Gurgel R. Q. , Ferrão T. O. , Peters M. , Agyemang C.
Published: October 2013

Objectives

To evaluate the occurrence of low bone mineral density (BMD) and its relationship with clinical and laboratorial characteristics in children and young adults with sickle cell anaemia living in Northeast‐Brazil, and to assess the role of radiography in diagnosing low BMD.

Methods

Bone mineral density of lumbar spine was measured by dual energy X‐ray absorptiometry (DXA) in 27 patients with Sickle cell anaemia (SCA) aged 7–28 years. Clinical history, calcium and calorie intake, laboratory measurements, anthropometrics and pubertal development were assessed, and X‐rays were obtained. Z‐scores and T‐scores for weight, height, Body Mass Index (BMI) and BMD were calculated using age and gender matched reference data.

Results

Mean lumbar spine BMD Z‐scores and T‐scores were −1.81 SD in boys and −0.80 SD in girls. BMD Z‐scores were below ‐2 SD in 33.3% of girls and in 46.7% of boys. Low BMD (<−2 SD) occurred significantly more in patients with low height‐for‐age (P = 0.02), low weight‐for‐age (P = 0.001) and low BMI‐for‐age (P = 0.006). No significant relationships were found between BMD and other clinical and laboratory parameters. Radiography had a sensitivity of 75% and a specificity of 36% to detect low BMD, and was considered not useful in this context.

Conclusions

Patients with low height and/or low weight‐for‐age seem to be at high risk for developing low BMD.
Microvillus Inclusion Disease: Loss of Myosin Vb Disrupts Intracellular Traffic and Cell Polarity
Authors: Thoeni Cornelia E. , Vogel Georg F. , Tancevski Ivan , Geley Stephan , Lechner Silvia , Pfaller Kristian , Hess Michael W. , Müller Thomas , Janecke Andreas R. , Avitzur Yaron , Muise Aleixo , Cutz Ernest , Huber Lukas A.
Published: October 2013

Microvillus inclusion disease (MVID) is a congenital enteropathy characterized by loss of apical microvilli and formation of cytoplasmic inclusions lined by microvilli in enterocytes. MVID is caused by mutations in the MYO5B gene, coding for the myosin Vb motor protein. Although myosin Vb is implicated in the organization of intracellular transport and cell surface polarity in epithelial cells, its precise role in the pathogenesis of MVID is unknown. We performed correlative immunohistochemistry analyses of sections from duodenal biopsies of a MVID patient, compound heterozygous for two novel MYO5B mutations, predicting loss of function of myosin Vb in duodenal enterocytes together with a stable MYO5B CaCo2 RNAi cell system. Our findings show that myosin Vb‐deficient enterocytes display disruption of cell polarity as reflected by mislocalized apical and basolateral transporter proteins, altered distribution of certain endosomal/lysosomal constituents including Rab GTPases. Together, this severe disturbance of epithelial cell function could shed light on the pathology and symptoms of MVID.