bluuebunny/crossref_metadata_2025 huggingface dataset:
Preferences, Specialization, and Management Attitudes of Trout Anglers Fishing in Tennessee Tailwaters
Authors: Hutt Clifford P. , Bettoli Phillip W.
Published: October 2007

Efforts to manage several trout fisheries in Tennessee have been stymied by conflicts between management agencies and angler groups. To assist in preventing such conflicts in the future, we examined attitudes and motivations of trout anglers who fished eight tailwater fisheries in Tennessee during 2001–2002. Using a stratified random sampling design, anglers were contacted and interviewed on site (n = 2,643). Those anglers who agreed to complete a questionnaire (n = 1,942) were mailed a 10-page survey. Response rate to the mail survey was 55% after excluding surveys that were undeliverable. Angler subgroups were created using hierarchical cluster analyses of 14 variables related to experience, resource use, investment, and centrality of fishing to their lifestyle. Five subgroups of minimally to highly specialized anglers were identified, and nonhierarchical cluster analysis determined the size of each group (n = 178–369 anglers/group). Subgroups differed in the importance they attached to harvesting trout and catching trophy trout. The most disparate mean ratings among subgroups were for the motive of “obtaining fish to eat.” Specialized anglers placed greater importance on catching a trophy fish, experiencing the catch, developing their skills, releasing fish, and restrictive regulations than did less-specialized anglers. Mean ratings for most of nine fishing regulations presented to anglers differed among tailwaters; however, bait restrictions and closed seasons received little support across all rivers. The Caney Fork, Clinch, and Hiwassee rivers had the most uniform distributions of anglers among the five subgroups and thus had a relatively high potential for conflicts over management decisions. The fisheries on the Elk, South Fork Holston, and Watauga rivers were dominated by the most specialized subgroups, indicating that the majority of anglers on those rivers would accept restrictive regulations.
Life History of Hickory Shad in the St. Johns River, Florida
Authors: Harris Julianne E. , McBride Richard S. , Williams Roy O.
Published: October 2007

Hickory shad Alosa mediocris spawn in rivers from Maryland to Florida, but little research has been published regarding their life history. We collected hickory shad in the St. Johns River, Florida, during five consecutive spawning years from 2000 to 2005. Hickory shad migrated upstream by December and remained in the river and its tributaries until March. Females were larger than males and accounted for 17.7% of the adults collected. All but one female examined were mature and contained yolked oocytes. No females had hydrated oocytes, but four had fresh postovulatory follicles (POFs < 24 h old), indicating a batch spawning pattern. Females with fresh POFs were collected from Shad Alley and the Wekiva and Econlockhatchee rivers, but otherwise the spawning grounds could not be delineated. Fish constituted over 97% of the diet by weight and were found in 11.5% of the stomachs examined. Scale and otolith ages produced the same age range, from 1 to 7 years. A test of symmetry did not detect systematic age differences between the two methods, although exact agreement was only 57%. Spawning marks on scales indicated that mature hickory shad ranged in age from 2 to 7 years and that most spawning individuals were age 3 or 4. Hickory shad are iteroparous, and fewer than 50% showed evidence of previous spawning. Our estimates of sex ratio, age distribution, and age at maturity differed from values measured in the 1970s by Williams et al. (1975). We are uncertain whether the later age at maturity in the early 2000s relative to the 1970s was due to a biological change or a difference in sampling methods between the two studies. There is an apparent latitudinal pattern in the timing of the spawning migration for hickory shad; individuals in more northerly rivers spawned later in the season than those in southern systems.
Population Status of White Sturgeon in the Lower Columbia River within Canada
Authors: Irvine Robyn L. , Schmidt Dana C. , Hildebrand Larry R.
Published: October 2007

The subpopulation of white sturgeon Acipenser transmontanus in the Canadian portion of the Columbia River between Hugh L. Keenleyside Dam and the U.S.‐Canada border has been identified as endangered, with nearly 30 consecutive years of consistent recruitment failure. The objectives of this study were to determine the status and population attributes of this subpopulation. We estimated survival rates and abundance using catch‐curve analysis and mark‐recapture models. An annual survival rate of 89% (95% confidence interval [CI], 88‐90%) was estimated for the subpopulation using catch‐curve analysis for the time period 1993‐2004. The survival rates estimated from the mark‐recapture data were obtained using model‐averaged parameter estimates from a multistrata Cormack‐Jolly‐Seber model. The annual survival rate from the mark‐recapture model was estimated at 97% (95% CI, 92‐99%) from 1993 to 2004. The mark‐recapture methods estimated abundance for 2004 to be 1,157 individuals (95% CI, 414‐1,900). The mark‐recapture data suggest that the white sturgeon have low migration rates, ranging from 3% to 5% among sections of the river. Despite high estimated survival, high uncertainty as to the future viability of the white sturgeon subpopulation in this portion of the river remains, as natural recruitment is poor. The fish continue to age, and size and age‐frequency data suggest that recruitment failure continues in this subpopulation with minimal presence of wild juvenile or subadult white sturgeon detected.
Outcome of Fowler‐Stephens Operation for Undescended Testes: An Experimental Study
Authors: Gougoudi Evagelia , Pikoulis Emmanouil , Karavokyros Ioannis , Gorgas Karen , Felekouras Evagelos , Georgopoulos Sotiris , Tsigris Christos , Giannopoulos Athanasios , Zachariou Zacharias
Published: October 2007

ABSTRACT: The aim of this study was the outcome of Fowler‐Stephens (FS) operations in prepubertal Wistar rats. Thirty‐two 30‐day‐old rats underwent laparoscopic FS procedures on the right testicles (8 of them formed the control group). Nine, 30, 70, and 90 days later we assessed the testes histologically and determined inhibin βB serum concentrations; 1 day earlier, ultrasonography was also performed. Decreases in central testicular vascularity and heterogenous parenchymal echogenicity were the initial sonographic evidence of testicular damage, which either regressed in time or extended toward the periphery. Early degenerative changes either remained mild and restricted in the germinative epithelium or became more severe, affecting additional structures. Decreases in the seminiferous tubule area, thickening of the tunica albuginea, and increases in the number of mast cells were changes that reached significance. Significant decreases in the amount of serum inhibin βB were also found, and the decreases correlated significantly with both the thickening of the tunica albuginea and the increases in the number of mast cells but not with the decreases in the seminiferous tubule area. Division of the spermatic vessels caused severe testicular degeneration as evidenced by changes in ultrasonographic and histologic features combined with drops in the levels of serum inhibin βB.
Recombinant Adenovirus Mediated Prostate‐Specific Enzyme Pro‐Drug Gene Therapy Regulated by Prostate‐Specific Membrane Antigen (PSMA) Enhancer/Promoter
Authors: Zeng Hao , Wei Qiang , Huang Rui , Chen Ni , Dong Qiang , Yang Yuru , Zhou Qiao
Published: October 2007

ABSTRACT: Gene directed enzyme pro‐drug therapy (GDEPT) is one of the adjuvant therapeutic regimens for advanced prostate adenocarcinoma, and this research intended to explore how to apply targeting therapy of prostate adenocarcinoma under the mediation of a promoter/enhancer of prostate‐specific membrane antigen (PSMAEP) as a specific regulatory element. Recombinant adenoviruses (Ad‐PSMAE‐P–enhanced green fluorescent protein [EGFP], Ad‐CMV‐EGFP, Ad‐PSMAE‐P–CD, and Ad‐CMV‐CD) were constructed and could express cytosine deaminase (CD) or the EGFP reporter gene driven by a PSMAEP or cytomegalovirus (CMV) promoter. LNCaP, CL‐1, MCF‐7, and A549 were infected with CD‐produced recombinant adenoviruses and treated with pro‐drug 5‐fluorocytosine (5‐FC) in vivo and vitro; then, the growth inhibition of the cells and the cell cycle variation were assessed by an [3‐(4,5‐dimethylthiazol‐2‐yl)‐2,5‐diphenyltetrazolium bromide] (MTT) assay and flow cytometry. Growth suppression of the xenograft tumor was also adopted to evaluate the efficiency of the suicide system. Morphologic changes after treatment in vivo were assessed with hematoxylin and eosin staining. In the 4 examined cancer cell lines, PSMA‐positive prostate cancer cells LNCap and CL‐1 were exclusively sensitive to the Ad‐PSMAE‐P–CD/5‐FC system. The S phase of cell cycle arrest was thought to be involved in the cytotoxicity of 5‐fluorouracil (5‐FU) converted from 5‐FC by CD. CL‐1 implanted Athymic BALB/c mice showed growth inhibition of tumors when they were treated with the Ad‐PSMAE‐P–CD/5‐FC system without systemic conversion toxicity. The PSMA‐based, CD‐produced adenovirus, deserving further investigation in the future, might be a good candidate for targeting gene therapy of prostate adenocarcinoma.
The Response of the Corporal Tissue and Cavernosus Muscles to Urethral Stimulation: An Effect of Penile Buffeting of the Vaginal Introitus
Authors: Shafik Ahmed , Shafik Ali A. , El Sibai Olfat , Shafik Ismail A.
Published: October 2007

ABSTRACT: We investigated the hypothesis that urethral stimulation in humans induces sexual response in the form of activation of the corporal tissue and cavernosus muscles through a reflex mechanism. Electromyographic activity of corpora cavernosa (CC), corpus spongiosum (CS), bulbocavernosus (BCM), and ischiocavernosus (ICM) muscles was recorded in 43 healthy volunteers (24 men, 19 women; age, 37.7 ± 8.2 years) during urethral stimulation. The tests were repeated after individual anesthetization of urethra, CC, CS, BCM, and ICM. During stimulation of the distal urethra, slow wave variables of CC and CS decreased while motor unit action potentials of BCM and ICM increased. Urethral stimulation after individual anesthetization of urethra, CC, CS, BCM, and ICM did not effect significant changes in these structures, but saline administration did. Diminished electromyographic activity of CC and CS with increased activity of BCM and ICM during distal urethral stimulation presumably denotes sinusoidal muscle relaxation of CC and CS and cavernosus muscles' contraction. Sinusoidal muscle relaxation and contraction of cavernosus muscles upon distal urethral stimulation are suggested to be mediated through a reflex that we call the “urethro‐corporocavernosal reflex.” Sinusoidal and cavernosus muscles' response during coitus appears to effect a degree of tumescence for both male and female partners.
Effects of Ejaculation‐to‐Analysis Delay on Levels of Markers of Epididymal and Accessory Sex Gland Functions and Sperm Motility
Authors: Elzanaty Saad , Malm Johan
Published: October 2007

ABSTRACT: This study aimed to examine the association between the interval from ejaculation to analysis and epididymal and accessory sex gland function in relation to sperm motility. Ejaculates from 1079 men assessed for infertility were analyzed according to World Health Organization guidelines. Biochemical markers were measured in semen to assess the function of the epididymis (neutral α‐glucosidase [NAG]), prostate (prostate‐specific antigen [PSA] and zinc), and seminal vesicles (fructose). Three groups were defined according to time from ejaculation to analysis: G≤30 (24–30 minutes), G31–60 (31–60 minutes), and G>60 (63–180 minutes). The proportion of progressively motile sperm was significantly lower in G>60 than in G≤30 (mean difference, 8.0%; 95% confidence interval [CI], 2.0%–13%) or G31–60 (mean difference, 6.0%; 95% CI, 1.0%–12%). The proportion of rapid progressive sperm motility was significantly higher in G≤30 compared with G31–60 (mean difference, 3.0%; 95% CI, 1.0%–5.0%) and G>60 (mean difference, 6.0%; 95% CI, 1.0%–10%). Sperm morphology and viability did not vary significantly between the groups. However, PSA levels in G>60 were 29% and 31% significantly lower than in G≤30 (95% CI, 3.0%–54%) and G31–60 (95% CI, 7.0%–58%), respectively. Moreover, men in G>60 had 29% and 17% significantly lower zinc compared with those in G≤30 (95% CI, 4.0%–69%) and G31–60 (95% CI, 4.0%–64%), respectively. Levels of NAG and fructose did not differ significantly between the groups. There were negative associations between the ejaculation‐to‐analysis interval and sperm motility and levels of PSA and zinc. In male infertility assessments, semen analysis should be performed within 60 minutes of ejaculation.
Comparative Analysis of Interindividual Variations in the Seminal Plasma Proteome of Fertile Men With Identification of Potential Markers for Azoospermia in Infertile Patients
Authors: Yamakawa Katsunori , Yoshida Kaoru , Nishikawa Hiroyuki , Kato Tomohiro , Iwamoto Teruaki
Published: October 2007

ABSTRACT: Seminal plasma is a potential source of biomarkers for many disorders of the male reproductive system. The identification and characterization of proteins in the seminal plasma by using two‐dimensional (2‐D) difference gel electrophoresis (DIGE) serve as a basis for estimating male infertility. However, individual variation remains an impediment to identifying disease‐associated proteins. Therefore, it is necessary to examine the interindividual variations in the seminal plasma proteome of fertile men. The present study analyzed seminal plasma samples from 10 fertile men. The results from silver‐stained 2‐D DIGE were averaged to reduce gel to gel variations. Up to 501 spots (polypeptides) were detected on the averaged gels for the fertile men. The coefficient of variation (CV) of standardized abundance was calculated for 63 spots that were common to all 10 samples; the CV values ranged from 24.5% to 129.9% with a median value of 63.1%. These results demonstrate that the variability in protein expression among different fertile men is relatively high in seminal plasma compared with that in other human tissue samples. The 63 matched spots were compared with those from 10 patients with azoospermia. There was no common spot that was lost in all of the 10 patients, and 16 of these spots (25%) were present in each of the patients. We identified 4 and 1 candidate markers for nonobstructive and obstructive azoospermia, respectively. These results validate our method of identifying differences in the proteomic profiles of seminal plasma samples and provide an important basis for protein expression profiling and comparative proteomics of infertility.
Free ammonia and free nitrous acid inhibition on the anabolic and catabolic processes of Nitrosomonas and Nitrobacter
Authors: Vadivelu V.M. , Keller J. , Yuan Z.
Published: October 2007

The inhibitory effects of free ammonia (FA) and free nitrous acid (FNA) on the catabolic and anabolic processes of Nitrosomonas and Nitrobacter were investigated using a method that allows decoupling the growth and energy generation processes. Lab-scale sequencing batch reactors (SBRs) were operated for the enrichment of Nitrosomonas and Nitrobacter. Fluorescent In-Situ Hybridization (FISH) analysis showed that the reactors were 82% and 73% enriched with Nitrosomonas and Nitrobacter, respectively. Batch tests were carried out to measure the oxygen uptake rate (OUR) by the enriched cultures at various FA and FNA levels, in the presence (OURwithCO2) or absence (OURwithoutCO2) of inorganic carbon (CO2, HCO3− and CO32−). FA up to 16.0 mgNH3-N.L−1 was not found to have any inhibitory effect on either the catabolic or anabolic processes of the Nitrosomonas culture, but both these processes were inhibited by FNA. While an FNA level of 0.40–0.63 mgHNO2-N.L−1 inhibited the energy production capability of Nitrosomonas by 50%, the growth process of the culture was completely inhibited by FNA at a concentration of 0.40 mgHNO2-N.L−1. Both FA and FNA were found to have strong inhibition on the anabolic processes of Nitrobacter, but with limited inhibitory effects on the catabolism of this culture. The biosynthesis of Nitrobacter was totally inhibited at an FA level of 6.0 mgNH3-N.L−1 (or above) or an FNA level of 0.02 mgHNO2-N.L−1 (or above). At the same level of FA, the energy production capability of Nitrobacter was only inhibited by 12%, whereas an FNA level of up to 0.024 mgHNO2-N.L−1 did not show any inhibition on the energy production of Nitrobacter. Further, these inhibitory effects appears to be much stronger on Nitrobacter than on Nitrosomonas, supporting that FA and FNA inhibition may play a major role in the elimination of nitrite oxidizing bacteria in processes treating wastewater containing a high level of nitrogen.
Adsorption of copper ion on magnetite-immobilised chitin
Authors: Wong K.S. , Wong K.H. , Ng S. , Chung W.K. , Wong P.K.
Published: October 2007

The adsorption of Cu2 +  from aqueous solution by magnetite-immobilised chitin (MC) was studied in batch mode. Two conventional adsorbents, cation exchange resin (CER) and activated carbon (AC) were used for the comparison. The physicochemical parameters including pH, concentration of adsorbent, temperature and initial Cu2 +  concentration were optimised. Under the optimised conditions, the removal efficiencies of Cu2 +  for MC, CER and AC were 91.67, 93.36 and 89.16%, respectively. In addition, the removal capacities of Cu2 +  for MC, CER and AC were 56.71, 74.84 and 6.55 mg/g, respectively. The adsorption isotherm studies indicated that the adsorptive behaviour of Cu2 +  on three adsorbents could be well described by the Langmuir model. The maximum adsorption capacities (qmax) for MC, CER and AC were 53.19, 89.29 and 5.82 mg/g, respectively. The applicability of the kinetic model has been investigated for MC. Experimental results indicated that a pseudo-second-order reaction model provided the best description of the data with a correlation coefficient 0.999 for different initial Cu2 +  concentrations. The rate constants were also determined. Various thermodynamic parameters such as standard free energy (ΔG0), enthalpy (ΔH0) and entropy (ΔS0) were calculated for predicting the adsorption nature of MC. The results indicated that this system was a spontaneous and endothermic process.
Photocatalytic degradation of di(2-ethylhexyl)phthalate adsorbed by chitin A
Authors: Chan C.M. , Wong K.H. , Chung W.K. , Chow T.S. , Wong P.K.
Published: October 2007

Di(2-ethylhexyl)phthalate (DEHP) is a ubiquitous environmental contaminant due to its extensive use as a plasticiser and its persistence. Currently, there is no cost-effective treatment method for its removal from industrial wastewater. In a previous study, DEHP was effectively adsorbed from aqueous solution by biosorption onto chitinous materials. Biosorption can pre-concentrate DEHP from the aqueous phase for further treatment. As biosorption cannot degrade DEHP, in this study the degradation (and detoxification) of DEHP adsorbed onto chitinous material by photocatalytic oxidation (PCO) is attempted. PCO relies on hydroxyl radical (∙OH), which is a strong oxidising agent, for the oxidative degradation of pollutants. It is a non-selective process which can degrade DEHP adsorbed onto chitinous material. The first part of this study is the optimisation of the degradation of adsorbed DEHP by PCO. Adsorption was carried out in the physicochemical conditions optimised in the previous study, with 500 mg/L chitin A and 40 mg/L DEHP at initial pH 2, 22±2 °C and 150 rpm agitation for 5 min. After optimisation of PCO, a 61% removal efficiency of 10 mg/L of DEHP was achieved within 45 min under 0.65 mW/cm2 of UV-A with 100 mg/L TiO2, and 10 mM of H2O2 at initial pH 12. The optimisation study showed that UV-A and TiO2 are essential for the degradation of DEHP by PCO. The degradation intermediates/products were identified by GC–MS analysis. GC–MS results showed that the di(2-ethylhexyl) side chain was first degraded, producing phthalates with shorter side chains. Further reaction produced phathalic anhydride and aliphatic compounds such as alkanol and ester. The toxicities of parental and degradation intermediates in the solution phase and on chitinous materials were followed by the Microtox® test. Results indicated that toxicity can be removed after 4 h treatment by PCO. Thus the decontamination of DEHP by integrating biosorption and PCO is feasible.
Long-Range Enhancers Are Required to Maintain Expression of the Autoantigen Islet-Specific Glucose-6-Phosphatase Catalytic Subunit–Related Protein in Adult Mouse Islets In Vivo
Authors: Wang Yingda , Flemming Brian P. , Martin Cyrus C. , Allen Shelley R. , Walters Jay , Oeser James K. , Hutton John C. , O'Brien Richard M.
Published: October 2007

OBJECTIVE—Islet-specific glucose-6-phosphatase catalytic subunit–related protein (IGRP) is selectively expressed in islet β-cells and is a major autoantigen in both mouse and human type 1 diabetes. This study describes the use of a combination of transgenic and transfection approaches to characterize the gene regions that confer the islet-specific expression of IGRP.

RESEARCH DESIGN AND METHODS—Transgenic mice were generated containing the IGRP promoter sequence from −306, −911, or −3911 to +3 ligated to a LacZ reporter gene. Transgene expression was monitored by 5-bromo-4-chloro-3-indolyl-β-D-galactopyranoside staining of pancreatic tissue.

RESULTS—In all the transgenic mice, robust LacZ expression was detected in newborn mouse islets, but expression became mosaic as animals aged, suggesting that additional elements are required for the maintenance of IGRP gene expression. VISTA analyses identified two conserved regions in the distal IGRP promoter and one in the third intron. Transfection experiments demonstrated that all three regions confer enhanced luciferase reporter gene expression in βTC-3 cells when ligated to a minimal IGRP promoter. A transgene containing all three conserved regions was generated by using a bacterial recombination strategy to insert a LacZ cassette into exon 5 of the IGRP gene. Transgenic mice containing a 15-kbp fragment of the IGRP gene were then generated. This transgene conferred LacZ expression in newborn mouse islets; however, expression was still suppressed as animals aged.

CONCLUSIONS—The data suggest that long-range enhancers 5′ or 3′ of the IGRP gene are required for the maintenance of IGRP gene expression in adult mice.
Low Physical Activity Accentuates the Effect of the FTO rs9939609 Polymorphism on Body Fat Accumulation
Authors: Andreasen Camilla H. , Stender-Petersen Kirstine L. , Mogensen Mette S. , Torekov Signe S. , Wegner Lise , Andersen Gitte , Nielsen Arne L. , Albrechtsen Anders , Borch-Johnsen Knut , Rasmussen Signe S. , Clausen Jesper O. , Sandbæk Annelli , Lauritzen Torsten , Hansen Lars , Jørgensen Torben , Pedersen Oluf , Hansen Torben
Published: October 2007

OBJECTIVE—Three independent studies have shown that variation in the fat mass and obesity-associated (FTO) gene associates with BMI and obesity. In the present study, the effect of FTO variation on metabolic traits including obesity, type 2 diabetes, and related quantitative phenotypes was examined.

RESEARCH DESIGN AND METHODS—The FTO rs9939609 polymorphism was genotyped in a total of 17,508 Danes from five different study groups.

RESULTS—In studies of 3,856 type 2 diabetic case subjects and 4,861 normal glucose-tolerant control subjects, the minor A-allele of rs9939609 associated with type 2 diabetes (odds ratio 1.13 [95% CI 1.06–1.20], P = 9 × 10−5). This association was abolished when adjusting for BMI (1.06 [0.97–1.16], P = 0.2). Among 17,162 middle-aged Danes, the A-allele associated with overweight (1.19 [1.13–1.24], P = 1 × 10−12) and obesity (1.27 [1.20–1.34], P = 2 × 10−16). Furthermore, obesity-related quantitative traits such as body weight, waist circumference, fat mass, and fasting serum leptin levels were significantly elevated in A-allele carriers. An interaction between the FTO rs9939609 genotype and physical activity (P = 0.007) was found, where physically inactive homozygous risk A-allele carriers had a 1.95 ± 0.3 kg/m2 increase in BMI compared with homozygous T-allele carriers.

CONCLUSIONS—We validate that variation in FTO is associated with type 2 diabetes when not adjusted for BMI and with an overall increase in body fat mass. Furthermore, low physical activity seems to accentuate the effect of FTO rs9939609 on body fat accumulation.
Mosaic Paternal Uniparental Isodisomy and an ABCC8 Gene Mutation in a Patient With Permanent Neonatal Diabetes and Hemihypertrophy
Authors: Shield Julian P.H. , Flanagan Sarah E. , Mackay Deborah J. , Harries Lorna W. , Proks Peter , Girard Christophe , Ashcroft Frances M. , Temple I. Karen , Ellard Sian
Published: October 2007

OBJECTIVE— Activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the pancreatic ATP-sensitive K+ channel are the most common cause of permanent neonatal diabetes. In contrast to KCNJ11, where only dominant heterozygous mutations have been identified, recessively acting ABCC8 mutations have recently been found in some patients with neonatal diabetes. These genes are co-located on chromosome 11p15.1, centromeric to the imprinted Beckwith-Wiedemann syndrome (BWS) locus at 11p15.5. We investigated a male with hemihypertrophy, a condition classically associated with neonatal hyperinsulinemia and hypoglycemia, who developed neonatal diabetes at age 5 weeks.

RESEARCH DESIGN AND METHODS— The KCNJ11 and ABCC8 genes and microsatellite markers on chromosome 11 were analyzed in DNA samples from the patient and his parents.

RESULTS— A paternally inherited activating mutation (N72S) in the ABCC8 gene was identified in the proband. The mutation was present at 70% in the patient's leukocytes and 50% in buccal cells. Microsatellite analysis demonstrated mosaic segmental paternal uniparental isodisomy (UPD) of 11pter-11p14 in the proband that encompassed the ABCC8 gene and the BWS locus.

CONCLUSIONS— We report a patient with neonatal diabetes, hemihypertrophy, and relatively high birth weight resulting from telomeric segmental paternal UPD of chromosome 11, which unmasks a recessively acting gain-of-function mutation in the ABCC8 gene and causes deregulation of imprinted genes at the BWS locus on 11p15.5.
Hemidesmus indicus Protects against ethanol-induced liver toxicity
Authors: Saravanan Nadana , Nalini Namasivayam
Published: October 2007

Alcoholic liver disease (ALD) is one of the most common diseases in modern society. A large number of studies are in progress aiming to identify natural substances that would be effective in reducing the severity of ALD. Although there are currently a number of drugs on the market, their long-term use can have numerous side effects. Hemidesmus indicus is an indigenous Ayurvedic medicinal plant used in soft drinks in India. In this study, we examined the effects of its ethanolic root extract on experimental liver damage in order to evaluate its hepatoprotective effects against hepatotoxicity induced in rats by ethanol at a dosage of 5 g/kg body weight for 60 days. The H. indicus root extract was given at a dose of 500 mg/kg body weight for the last 30 days of the experiment. The animals were monitored for food intake and weight gain. The liver was analysed for the degree of lipid peroxidation using thiobarbituric acid reactive substances (TBARS) and antioxidant status using the activities of glutathione-depedendant enzymes. The degree of liver damage was analysed using serum marker enzyme activities, the total protein, albumin, globulin, ceruloplasmin and liver glycogen contents, and the A/G ratio. The Fourier transform infrared spectra (FT-IR) of the liver tissues were recorded in the region of 4000–400 cm−1. The ethanol-fed rats showed significantly elevated liver marker enzyme activities, lipid peroxidation levels and reduced antioxidant levels as compared to the control rats. Oral administration of H. indicus for the latter 30 days resulted in an increased food intake and weight gain, decreased TBARS levels, near normal levels of glutathione-dependent enzymes, increased total protein, albumin, globulin and liver glycogen contents, an increased A/G ratio, and decreased liver marker enzyme activities and ceruloplasmin levels. The relative intensity of the liver FT-IR bands for the experimental groups were found to be altered significantly (p < 0.05) compared to the control samples. For the group that had H. indicus co-administered with ethanol, the intensity of the bands was near normal. Moreover, the results of the FT-IR study correlated with our biochemical results.
The effect of calnexin deletion on the expression level of PDI in Saccharomyces cerevisiae under heat stress conditions
Authors: Zhang Huili , He Jianwei , Ji Yanyan , Kato Akio , Song Youtao
Published: October 2007

We cultured calnexin-disrupted and wild-type Saccharomyces cerevisiae strains under conditions of heat stress. The growth rate of the calnexin-disrupted yeast was almost the same as that of the wild-type yeast under those conditions. However, the induced mRNA level of the molecular chaperone PDI in the ER was clearly higher in calnexin-disrupted S. cerevisiae relative to the wild type at 37°C, despite being almost the same in the two strains under normal conditions. The western blotting analysis for PDI protein expression in the ER yielded results that show a parallel in their mRNA levels in the two strains. We suggest that PDI may interact with calnexin under heat stress conditions, and that the induction of PDI in the ER can recover part of the function of calnexin in calnexin-disrupted yeast, and result in the same growth rate as in wild-type yeast.
Platelet-activating factor changes in phospholipid extracts from the plasma, peripheral blood mononuclear cells and bone marrow mononuclear cells of patients with acute leukemia — A 31P MRS in vitro study
Authors: Kuliszkiewicz-Janus Małgorzata , Tuz Mariusz , Kiełbiński Marek , Baczyński Stanisław , Jaźwiec Bożena , Śladowska Helena
Published: October 2007

The aim of this investigation was to evaluate the changes in PAF concentrations in the plasma, PBMC and BMMC of patients with acute lymphoblastic leukemia (ALL) and acute myeloblastic leukemia (AML). The plasma was from 23 healthy volunteers (HV) and 44 patients with AL (16 ALL, 28 AML). The PBMC were from 15 HV and 55 patients with AL (18 ALL, 37 AML), and the BMMC from 40 patients with AL (11 ALL, 29 AML). Methanol-chloroform phospholipid extraction from 60 × 106 cells (PBMC or BMMC) was performed according to a modified version of Folch’s method. 31P MRS data was obtained on an AMX 300 Bruker spectrometer (7.05 T). The PAF concentration in the plasma of the patients with ALL or AML was lower than that for the healthy volunteers. The PAF concentration in the plasma of the patients with ALL did not differ significantly from that of the patients with AML. In the case of both the PBMC and BMMC, the PAF concentration was significantly diminished in patients with ALL relative to the concentration for those with AML and for the healthy volunteers. No differences were observed in the PAF concentrations for the AML patients and the healthy volunteers.
Judgement of confidence in childhood memories
Authors: Arbuthnott Katherine D. , Kealy Kinda L. K. , Ylioja Shelley
Published: October 2007

Memory judgement processes, based on the characteristics and associations of retrieved memories such as sensory details and supporting memories, are considered as important as retrieval in several autobiographical memory models. Judgement processes have received less research attention than memory characteristics themselves. The present studies examined memory judgement using qualitative analysis of the reasons participants gave for confidence in retrieved childhood memories. For memories they were confident of, participants cited memory phenomenology, especially sensory and affective details, much more frequently than consistency with other autobiographical knowledge. For memories they were not confident of, participants reported lack of consistency with autobiographical knowledge or with others' memories more often than memory phenomenology as reasons for their uncertainty. Participants' comments also revealed several metacognitive beliefs about the relationship between memory characteristics and accuracy. These data are consistent with two‐process models of memory judgement associated with true versus false memories. Copyright © 2007 John Wiley & Sons, Ltd.
Palladium‐Catalyzed Intermolecular Three‐Component Coupling of Organic Halides with Alkynes and Alkenes: Efficient Synthesis of Oligoene Compounds
Authors: Shibata Kana , Satoh Tetsuya , Miura Masahiro
Published: October 2007

The intermolecular three‐component coupling of aryl or vinyl halides, diarylacetylenes, and monosubstituted alkenes effectively proceeds in the presence of palladium acetate, lithium chloride, and sodium bicarbonate as catalyst, promoter, and base, respectively, in aqueous DMF or DMSO to produce the corresponding 1,3‐butadiene or 1,3,5‐hexatriene derivatives. Use of dienyl bromides allows the coupling to afford 1,3,5,7‐octatetraenes. Under the present catalytic conditions, fulvene derivatives are also formed efficiently by the 1:2 coupling of vinyl bromides and diarylacetylenes without adding the alkenes.
Solvent‐Free Carbon‐Carbon Bond Formations in Ball Mills
Authors: Rodríguez Belén , Bruckmann Angelika , Rantanen Toni , Bolm Carsten
Published: October 2007

Ball milling has been applied in numerous solvent‐free carbon‐carbon bond formations. In many cases, these transformations proved superior to the analogous reactions performed in solution. The reaction scope involves purely organic addition and coupling reactions, transformations involving metals (in stoichiometric and catalytic amounts) as well as asymmetric organocatalyses.
A polymorphism at the 3′‐untranslated region of the CLOCK gene is associated with adult attention‐deficit hyperactivity disorder
Authors: Kissling Christian , Retz Wolfgang , Wiemann Stefan , Coogan Andrew N. , Clement R. Marc , Hünnerkopf Regina , Conner Alex C. , Freitag Christine M. , Rösler Michael , Thome Johannes
Published: October 2007

Attention‐deficit hyperactivity disorder (ADHD) is frequently found in childhood and persists in about 50% of cases into adulthood. Several studies demonstrate a relationship between ADHD, circadian rhythmicity and sleeping disturbances in unmedicated ADHD patients. Since ADHD is a very complex disease with a high genetic load involving multiple genes of moderate effect, we hypothesized a link between adult ADHD and genes involved in the circadian timekeeping system. A 3′‐UTR polymorphism of the circadian locomotor output cycles protein kaput (CLOCK) gene, rs1801260, has been linked to disturbed sleep patterns, although both the C‐allele and more controversially the T‐allele have been proposed as risk factors for different measures of evening preference. This study compared self‐rating and interview based measures of ADHD psychopathology of 143 subjects with and without ADHD with their rs1801260 genotype to test the hypothesis that ADHD is linked to one of the alleles of the CLOCK polymorphism. The T > C single nucleotide polymorphism rs1801260 was genotyped in DNA isolated from blood samples. The associations between genotype and ADHD‐scores were compared using non‐parametric ANCOVA with post hoc pairwise comparisons. There was a strong, significant association (P < 0.001) between each of the adult ADHD assessments and the rs1801260 polymorphism with at least one T‐mutation being the risk allele. This is the first study suggesting that a polymorphism of a gene within the circadian “clock” mechanism is a direct or linked contributing factor in adult ADHD. © 2007 Wiley‐Liss, Inc.
Replication study and meta‐analysis of the genetic association of GRM3 gene polymorphisms with schizophrenia in a large Japanese case‐control population
Authors: Albalushi Talal , Horiuchi Yasue , Ishiguro Hiroki , Koga Minori , Inada Toshiya , Iwata Nakao , Ozaki Norio , Ujike Hiroshi , Watanabe Yuichiro , Someya Toshiyuki , Arinami Tadao
Published: October 2007

The GRM3 gene, which encodes a metabotropic glutamate receptor, is an important candidate gene for susceptibility to schizophrenia. Two single nucleotide polymorphisms (SNPs), rs1468412 and rs2299225 in intron 3, were reported to be associated with schizophrenia in Japanese and Chinese populations, respectively. Haplotypes with these SNPs were also reported to be associated with schizophrenia. In the present study, we attempted to replicate these single marker and haplotype associations in a case‐control study of 1,916 Japanese patients with schizophrenia and 1,915 Japanese control subjects. In addition to these two SNPs, we genotyped rs274622 in the promoter region of GRM3. In the present study, none of these polymorphisms were associated with schizophrenia (rs274622, allelic P = 0.68; rs1468412, allelic P = 0.74; rs2299225, allelic P = 0.20). Haplotypes constructed with these SNPs also were not associated with schizophrenia (P = 0.18–0.84). Meta‐analysis of five case‐control studies of more than 3,000 patients with schizophrenia and more than 3,000 control subjects did not support the associations of rs1468412 and rs2299225 with schizophrenia. Our data indicate that SNPs previously reported to be associated with schizophrenia do not contribute to genetic susceptibility to schizophrenia. © 2007 Wiley‐Liss, Inc.
Cis‐acting factors promoting the CAG intergenerational instability in Machado–Joseph disease
Authors: Martins Sandra , Coutinho Paula , Silveira Isabel , Giunti Paola , Jardim Laura B. , Calafell Francesc , Sequeiros Jorge , Amorim António
Published: October 2007

In repeat expansion disorders, the size of pathological alleles is the most relevant factor accounting for the disease severity and age‐at‐onset, emphasizing the clinical significance of their underlying intergenerational instability. In one of these diseases, Machado–Joseph disease (MJD), the sex of transmitting progenitor and the C987GG/G987GG polymorphism are the best studied factors acting on intergenerational instability of expanded alleles. Here, we assessed the influence of other cis and inter‐allelic acting factors, at the ATXN3 locus, through the analysis of MJD lineages, flanking STR‐based haplotypes, the initial repeat size and parental age. A total of 100 transmissions of the expanded MJD allele were analyzed according to the sex of the transmitting parent. We have shown that independent origin mutations (identified by intragenic SNP‐based haplotypes) behave differently, as the status of instability (contraction, no change or further expansion) is concerned. Indeed, 72% of expansions were associated to the worldwide spread TTACAC lineage, whereas the GTGGCA displayed 75% of all contractions observed. The analysis of flanking recombinant haplotypes did not suggest any further distant cis elements acting up‐ or downstream the ATXN3 locus. Considering the increased amplitude of expansions seen in older transmitting fathers, a repair‐based mechanism may be suggested for the meiotic instability at this locus; furthermore, the lack of correlation between the initial repeat size and degree of instability did not support a replication‐based mechanism. In summary, our findings point to different mechanisms of instability underlying male and female meioses, as well as contraction and expansion processes in MJD. © 2007 Wiley‐Liss, Inc.
The association between DRD2/ANKK1, 5‐HTTLPR gene, and specific personality trait on antisocial alcoholism among Han Chinese in Taiwan
Authors: Wu Chin‐Yeh , Wu Yi‐Syuan , Lee Jia‐Fu , Huang San‐Yuan , Yu Lung , Ko Huei‐Chen , Lu Ru‐Band
Published: October 2007

Cloninger suggested that type II alcoholism was associated with higher novelty seeking and less harm avoidance behaviors, which was similar to antisocial alcoholism. Most previous studies have failed to recruit subjects that have antisocial personality disorder without alcoholism due to the high coexisting likelihood of having antisocial personality disorder with alcoholism in the majority of the examined populations. Thus, recruitment of individuals with antisocial non‐alcoholism (antisocial personality disorder) served as an important control group in examining Cloninger's hypothesis. Due to the documented protective effects against alcoholism of ALDH2*1/*2 or *2/*2 genotype among the Han Chinese population, we recruited antisocial non‐alcoholics from the Han Chinese population in Taiwan to verify Cloninger's hypotheses. A total of 127 Han Chinese subjects were recruited who met the diagnosis of antisocial alcoholism (n = 43) or antisocial non‐alcoholism (n = 84). We found that the antisocial alcoholism group scored higher on the novelty seeking behavior than did the antisocial non‐alcoholism group (t = 2.61, P = 0.01), but no difference was observed on the harm avoidance dimension between these two groups (t = 0.15, P = 0.88). In the novelty seeking scores, after stratification of DRD2 TaqI A genotypes, only a significant difference in 5‐HTTLPR polymorphisms between antisocial alcoholics and antisocial non‐alcoholics was found, indicating an interaction between DRD2 TaqI A1+ (include A1/A1 or A1/A2) and 5‐HTTLPR S/S genotype (t = 2.75, P = 0.01) However, no significant difference was found in the harm avoidance personality trait between these two groups of Han Chinese in Taiwan. © 2007 Wiley‐Liss, Inc.
Association of 5‐HT1B receptor polymorphisms with the loudness dependence of auditory evoked potentials in a community‐based sample of healthy volunteers
Authors: Juckel Georg , Hegerl Ulrich , Giegling Ina , Mavrogiorgou Paraskevi , Wutzler Alexander , Schuhmacher Christiane , Uhl Idun , Brüne Martin , Mulert Christoph , Pogarell Oliver , Rujescu Dan
Published: October 2007

The terminal autoreceptor 5‐HT1B is centrally involved in the regulation of the brain serotonergic system and in several psychiatric disorders including depression, addiction, and obsessive‐compulsive disorder. The loudness dependence of the auditory evoked N1/P2‐component (LDAEP; primary auditory cortex) is currently considered as one of best‐validated indicators of serotonergic neurotransmission, especially for synaptically released serotonin. Since the 5‐HT1B receptor is involved in the release of serotonin at terminal endings of cortical neurons, this study addressed the question whether single nucleotide polymorphism (SNP) in the gene coding for this receptor (HTR1B) are related to LDAEP of the primary auditory cortex (tangential dipole) investigating a community‐based sample of 127 healthy subjects randomly selected from the general population. In this carefully recruited sample, a G‐G haplotype (rs1213368‐rs6296) and the respective G‐alleles were found to be related to a strong LDAEP response of the left tangential dipole, indicating low serotonergic activity. Apart from the fact that this is the first study which relates HTR1B SNPs to a measure of serotonergic function, it can be speculated that LDAEP may reflect parts of the release mechanism of serotonin at cortical synapses, although the lateralized finding cannot be entirely explained. Carriers of the G‐alleles may be characterized by a particularly strong feedback inhibition of serotonin release at cortical terminals in the primary auditory cortex, possibly mediated by higher sensitivity of 5‐HT1B receptors associated with low serotonergic activity. © 2007 Wiley‐Liss, Inc.
Dopaminergic mutations: Within‐family association and linkage in multiplex alcohol dependence families
Authors: Hill Shirley Y. , Hoffman Eric K. , Zezza Nicholas , Thalamuthu Anbupalam , Weeks Daniel E. , Matthews Abigail G. , Mukhopadhyay Indranil
Published: October 2007

Animal and human studies of addiction indicate that the D2 dopamine receptor (DRD2) plays a critical role in the mechanism of drug reward. D2 receptor density in the brains of alcoholics has been shown to be reduced relative to controls. Previous studies of DRD2 in association with alcohol dependence using variation in the TaqI A locus were highly controversial. Recently, a synonymous mutation, C957T, in the coding region of the human DRD2 gene has been identified which appears to have functional effects including alteration in receptor availability. In order to determine if susceptibility to alcohol dependence (AD) within multiplex alcohol dependence families would be altered by the C957T in the coding region of the D2 gene, within‐family association was studied in members of Caucasian multiplex alcohol dependence families. Members of control families with no personal alcohol or substance dependence history were included for case/control comparisons. Analyses performed to detect within‐family association showed evidence favoring an association for the C957T polymorphism (P = 0.038). Linkage analyses of polymorphisms in this region showed that only the C957T locus remained of interest (P = 0.015). Evidence for the C957T T allele having a role in AD susceptibility at the population level using a case/control comparison was statistically marginal (P = 0.062), but was consistent with the family data results. These results support a role for DRD2 as a susceptibility gene for alcohol dependence within multiplex families at high risk for developing alcohol dependence. © 2007 Wiley‐Liss, Inc.
Orchidectomized (orx) marmoset (Callithrix jacchus) as a model to study the development of osteopenia/osteoporosis
Authors: Seidlová‐Wuttke Dana , Schlumbohm Christina , Jarry Hubertus , Dullin Christian , Wuttke Wolfgang
Published: October 2007

The common marmoset serves as a primate model for many human diseases. Hypogonadal and particularly aged men develop osteopenia or osteoporosis. Whether marmosets develop osteoporosis after orchidectomy is not known. This was tested in seven young and two older adult male orchidectomy animals using quantitative computer tomography, which allowed quantification of total surface and density of the cortex and of the cancellous structures of the metaphysis of the tibia and of the fifth or sixth lumbal vertebra (L5/L6) before or after orchidectomy (orx), and 1, 6 and 12 months later. Surrogate parameters of whole skeletal bone metabolism (osteocalcin, OC) and C‐terminal breakdown products (telopeptides) of collagen‐α1 (CrossLaps) were also measured. Male marmosets lost between 5 and 20% of their initial cancellous density in the metaphysis of the tibia and this was statistically significant 6 months after castration. No loss of cancellous density was observed in L5/L6 of young marmosets and OC and the CrossLaps in the serum were decreased at this time point while a reduction was observed in bone mineral density of L5/L6 in two aged animals. It is concluded that castration of young male marmoset for 1 year results in a significant loss of bone mineral density in the metaphysis of the tibia resulting in osteopenia but not in the vertebra. The results indicate that male orx marmosets become osteopenic within 12 months after castration and may be a more human‐like experimental model for bone research. Am. J. Primatol. 70:294–300, 2008. © 2007 Wiley‐Liss, Inc.