bluuebunny/crossref_metadata_2025 huggingface dataset:
Rescue of HIV-1 Broad Neutralizing Antibody-Expressing B Cells in 2F5 VH × VL Knockin Mice Reveals Multiple Tolerance Controls
Authors: Verkoczy Laurent , Chen Yao , Bouton-Verville Hilary , Zhang Jinsong , Diaz Marilyn , Hutchinson Jennifer , Ouyang Ying-Bin , Alam S. Munir , Holl T. Matt , Hwang Kwan-Ki , Kelsoe Garnett , Haynes Barton F.
Published: September 2011

The HIV-1 broadly neutralizing Ab (bnAb) 2F5 has been shown to be poly-/self-reactive in vitro, and we previously demonstrated that targeted expression of its VDJ rearrangement alone was sufficient to trigger a profound B cell developmental blockade in 2F5 VH knockin (KI) mice, consistent with central deletion of 2F5 H chain-expressing B cells. In this study, we generate a strain expressing the entire 2F5 bnAb specificity, 2F5 VH × VL KI mice, and find an even higher degree of tolerance control than observed in the 2F5 VH KI strain. Although B cell development was severely impaired in 2F5 VH × VL KI animals, we demonstrate rescue of their B cells when cultured in IL-7/BAFF. Intriguingly, even under these conditions, most rescued B cell hybridomas produced mAbs that lacked HIV-1 Envelope (Env) reactivity due to editing of the 2F5 L chain, and the majority of rescued B cells retained an anergic phenotype. Thus, when clonal deletion is circumvented, κ editing and anergy are additional safeguards preventing 2F5 VH/VL expression by immature/transitional B cells. Importantly, 7% of rescued B cells retained 2F5 VH/VL expression and secreted Env-specific mAbs with HIV-1–neutralizing activity. This partial rescue was further corroborated in vivo, as reflected by the anergic phenotype of most rescued B cells in 2F5 VH × VL KI × Eμ-Bcl-2 transgenic mice and significant (yet modest) enrichment of Env-specific B cells and serum Igs. The rescued 2F5 mAb-producing B cell clones in this study are the first examples, to our knowledge, of in vivo-derived bone marrow precursors specifying HIV-1 bnAbs and provide a starting point for design of strategies aimed at rescuing such B cells.
MORPHOLOGY AND RHEOLOGY OF NONREACTIVE AND REACTIVE EPDM/PP BLENDS IN TRANSIENT SHEAR FLOW: PLASTICIZED VERSUS NONPLASTICIZED BLENDS
Authors: Shahbikian Shant , Carreau Pierre J. , Heuzey M-C. , Ellul Maria D. , Nadella Hari P. , Cheng John , Shirodkar Pradeep
Published: September 2011

Both nonplasticized and plasticized ethylene-propylene-diene-terpolymer/polypropylene (EPDM/PP) based thermoplastic elastomers (TPEs) were prepared in the presence and absence of a curing system (i.e., reactive vs nonreactive TPEs). The nonlinear viscoelastic behavior and morphology evolution of these blends were investigated through single and multiple start-up transient experiments to find out the effects of composition, plasticizer, and the presence of the curing system in a homogeneous shear flow field. Due to the highly elastic nature of the elastomeric component, the shear rate was set to 0.1 s−1 and in the case of multiple start-up experiments a 10 min rest time was set between consecutive shearing cycles. The specific interfacial area (Q) of the TPEs was analyzed prior and after shearing and subsequently correlated to the corresponding rheological response of these blends. The magnitude and the width of the stress overshoot were correlated to the morphology of the blends, elastomer content, the presence of plasticizer and curing system. The presence of a plasticizer (paraffinic oil) drastically decreased the viscosity and elasticity of both neat polymers and consequently the resulting TPEs; and it further reduced the initial curing rate of the elastomeric component at the early shearing stage of the reactive TPEs. Moreover, the plasticization promoted swelling and coalescence, enlarging the size of the polymeric domains, and decreasing the specific interfacial area. Furthermore, the in situ curing reaction in the reactive TPE blends resulted in less elongated polymeric domains with an irregular and larger interface compared to the nonreactive blends. A phase inverted morphology has also been observed for nonplasticized high elastomer content reactive TPEs sheared for long periods. The obtained experimental morphology data of the nonreactive blends subjected to multiple start-up experiments was fairly well predicted using a phenomenological model proposed by Lee and Park [J. Rheo. 38(5), 1994].
X‐linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations
Authors: McCauley Joanna , Masand Navta , McGowan Ruth , Rajagopalan Sulekha , Hunter Alasdair , Michaud Jacques L. , Gibson Kate , Robertson Jeremy , Vaz Fiona , Abbs Stephen , Holden Simon T.
Published: September 2011

X‐linked VACTERL‐hydrocephalus syndrome (X‐linked VACTERL‐H) is a rare disorder caused by mutations in the gene FANCB which underlies Fanconi Anemia (FA) complementation group B. Cells from affected males have increased chromosome breakage on exposure to DNA cross‐linking agents. Only five FANCB mutations found in six affected males, including an affected uncle and nephew, have been reported. We have identified FANCB mutations in a further four affected families. The VACTERL‐H phenotype segregates as an X‐linked recessive trait in three of these. Each mutation is predicted to truncate the FANCB open reading frame and results in highly skewed X‐inactivation in unaffected carrier females. Phenotypic data were available on six affected males. Comparison of the clinical findings in our patients with published clinical data (total 12 patients) shows that ventriculomegaly, bilateral absent thumbs and radii, vertebral defects, renal agenesis, and growth retardation are the major phenotypic signs in affected males. Less frequent are brain, pituitary, ear and eye malformations, gastrointestinal atresias (esophageal, duodenal and anal), tracheoesophageal fistula, lung segmentation defects, and small genitalia. Three of six of our patients survived the perinatal period. One boy lived up to 2 years 10 months but developed aplastic anemia and died of renal failure. These data show that loss‐of‐function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis. © 2011 Wiley‐Liss, Inc.
Pregnancy outcome in carriers of Robertsonian translocations
Authors: Keymolen Kathelijn , Van Berkel Kim , Vorsselmans Anniek , Staessen Catherine , Liebaers Inge
Published: September 2011

Robertsonian translocation carriers are at increased risk for infertility, spontaneous abortions, or chromosomally unbalanced offspring. Reproductive counseling of these carriers is challenging.

We performed a retrospective analysis of all prenatal diagnoses from Robertsonian translocation carriers during the time period January 1, 1992 through December 31, 2007. Data on the carriers and the results of their prenatal analyses were retrieved as well as data on their previous pregnancies.

We identified 28 female and 20 male carriers of Robertsonian translocations and results on 79 prenatal samples were obtained. Among female carriers, 10.3% of chorionic villus sampling and 5.9% of amniocentesis results were unbalanced, whereas for male carriers, this was 3.6% and 0%, respectively. When considering all pregnancies involving carriers, 52.7% of those to female carriers and 61.8% of those to male carriers led to the birth of a healthy child. Male carriers in whom the translocation was ascertained because of infertility or recurrent miscarriages appear to be at higher risk, whereas carriers in whom ascertainment was because of a family history are at lower risk.

We conclude that pregnancies of Robertsonian translocation carriers are at increased risk for chromosomal imbalance, and prenatal chromosomal testing should be discussed. More than half of the pregnancies led to the birth of a healthy child, but prediction of which couples will be successful in obtaining a pregnancy with or without assisted reproductive technologies and/or embryo selection remains difficult. The reason for ascertainment of the translocation should be taken into account when counseling these couples. The possibility of preimplantation genetic diagnosis should also be discussed with the couples. © 2011 Wiley‐Liss, Inc.
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: Presentation of 17 cases
Authors: Hatzaki Angeliki , Sifakis Stavros , Apostolopoulou Despina , Bouzarelou Dimitra , Konstantinidou Anastasia , Kappou Dimitra , Sideris Apostolos , Tzortzis Emmanouil , Athanassiadis Apostolos , Florentin Lina , Theodoropoulos Perikles , Makatsoris Constantinos , Karadimas Charalambos , Velissariou Voula
Published: September 2011

Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN. Reports of prenatal diagnosis of FGFR3 related skeletal dysplasias are not rare; however, the correlation between 2nd trimester ultrasonographic findings and underlying molecular defect in these cases is relatively poor. There is a need for specific ultrasound (U/S) predictors than can distinguish lethal from non‐lethal cases and aid an earlier prenatal diagnosis. Here we present one familial and 16 sporadic cases with FGFR3 related skeletal dysplasia, and we evaluate biometric parameters and U/S findings consistent with the diagnosis of skeletal dysplasia. U/S scan performed even at the 18th week of gestation can indicate a decreased rate of development of the femora (femur length (FL) <5th centile), while the mean gestational age at diagnosis is still around the 26th week. The utility of other biometric parameters and ratios is discussed (foot length, BPD, HC, FL/foot, and FL/AC). Prenatal cytogenetic and molecular genetic analyses were performed. A final diagnosis was reached by molecular analysis. In two cases of discontinued pregnancy, fetal autopsy led to a phenotypic diagnosis and confirmed the prenatal prediction of lethality. We conclude that the combination of U/S and molecular genetic approach is helpful for establishing an accurate diagnosis of FGFR3‐related skeletal dysplasias in utero and subsequently for appropriate genetic counselling and perinatal management. © 2011 Wiley‐Liss, Inc.
Long‐term survival in TARP syndrome and confirmation of RBM10 as the disease‐causing gene
Authors: Gripp Karen W. , Hopkins Elizabeth , Johnston Jennifer J. , Krause Caitlin , Dobyns William B. , Biesecker Leslie G.
Published: September 2011

TARP syndrome, comprising Talipes equinovarus, atrial septal defect (ASD), Robin sequence (micrognathia, glossoptosis, and cleft palate), and persistence of the left superior vena cava, is an X‐linked condition with pre‐ or postnatal lethality in affected males. Based on linkage studies and massively parallel sequencing of X‐chromosome exons in two families, the disease‐causing gene was identified as RBM10. We identified a maternally inherited frameshift mutation in an unrelated patient, confirming RBM10 as the disease gene. This is the first reported individual with TARP syndrome who survived past early infancy, thus expanding the phenotypic spectrum of this disorder. In addition to the characteristic cleft palate, ASD, and persistent superior vena cava, he had low‐set and posteriorly angulated ears, upslanting palpebral fissures, cryptorchidism, and structural brain abnormalities including partial agenesis of the corpus callosum, dysplastic enlarged caudate, and cerebellar hypoplasia with megacisterna magna. Preterm delivery, suspected pulmonary hypoplasia, and pulmonary hypertension resulted in chronic lung disease. At the age of $3{\raise0.5ex\hbox{$\scriptstyle 7$}\kern-0.1em/\kern-0.15em\lower0.25ex\hbox{$\scriptstyle {12}$}}$ years, he remained ventilator‐dependent at night, and he was fed exclusively through a gastro‐jejunal tube. Sensorineural hearing loss required a hearing aid. Optic atrophy and cortical visual impairment were noted. He was unable to sit independently, was non‐communicative and he had severe intellectual disability. Atrial flutter required recurrent ablation of intra‐atrial re‐entry pathways. The mother's heterozygosity for the RBM10 mutation underscored the importance of accurate diagnosis and counseling for TARP syndrome. © 2011 Wiley‐Liss, Inc.
Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His
Authors: Wakabayashi Yasushi , Yamazaki Kyohei , Narumi Yoko , Fuseya Satoshi , Horigome Miki , Wakui Keiko , Fukushima Yoshimitsu , Matsubara Yoichi , Aoki Yoko , Kosho Tomoki
Published: September 2011

LEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal‐dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities. Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM). We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD). Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS. Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM. © 2011 Wiley‐Liss, Inc.
Horseshoe kidney and a rare TSC2 variant in two unrelated individuals with tuberous sclerosis complex
Authors: Niemi Anna‐Kaisa , Northrup Hope , Hudgins Louanne , Bernstein Jonathan A.
Published: September 2011

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by abnormalities involving the skin, brain, kidney (angiomyolipomas, cysts), and heart. Horseshoe kidney has not been considered to be a common renal manifestation of TSC but it has been previously reported in two patients with TSC. We report on two unrelated females with typical manifestations of TSC, horseshoe kidney, and an identical variant c.5138G>A in exon 39 (p.Arg1713His) of TSC2 gene. These cases provide evidence that horseshoe kidney is associated with TSC and add to the evidence for the pathogenicity of this variant. Furthermore, one of the patients also had a diaphragmatic hernia which has been reported twice in the medical literature in individuals with TSC. It is possible that a diaphragmatic hernia is another rare manifestation of TSC and that TSC should be included in the differential diagnosis of infants with a diaphragmatic hernia. Given that both a horseshoe kidney and a diaphragmatic hernia are findings that can be detected prenatally on an ultrasound examination, our findings may have implications for prenatal genetic counseling. © 2011 Wiley‐Liss, Inc.
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
Authors: Alesi Viola , Barrano Giuseppe , Morara Sara , Darelli Daria , Petrilli Katia , Capalbo Anna , Pacella Mario , Haass Cristina , Finocchi Maurizio , Novelli Antonio , Bertoli Marta
Published: September 2011

Interstitial deletion of the short arm of chromosome 4, excluding cytoband p16, has been described as a distinct phenotype from the Wolf–Hirschhorn syndrome, characterized by a deletion encompassing cytoband p16. We report on the case of a 14‐month‐old boy with an apparently isolated craniosynostosis and harboring a de novo microdeletion in band 4p15. The imbalance, about 4 Mb in size is, to date, the smallest deletion ever described in this region, encompassing 12 genes. A comparison with other previously described cases of 4p15 deletion is made, and the possible roles of some genes involved in the deletion are discussed. © 2011 Wiley‐Liss, Inc.
Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs
Authors: Nampoothiri Sheela , Kuthiroly Shwetha , Fauth Christine , Krabichler Birgit , Attie‐Bitach Tania , Hennekam Raoul C.
Published: September 2011

We report on two sibs with marked global developmental delay, hearing loss, unusual facial morphology (hypertelorism, long philtrum, exaggerated cupid bow upper lip, thin upper vermilion, large mouth), and broad halluces which were partly bifid on radiographs. The phenotype in the sibs resembles acrocallosal syndrome but differs in absence of macrocephaly, underdeveloped callosal body, and post‐axial polydactyly. The patients also resemble Greig cephalopolysyndactyly syndrome but the absence of macrocephaly, broad thumbs, polydactyly, affected sibs and parents make this diagnosis unlikely. Classical cytogenetic and array CGH failed to show an abnormality. The sibs may have a hitherto undescribed entity, possibly with an autosomal recessive pattern of inheritance. © 2011 Wiley‐Liss, Inc.
Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
Authors: Fairchild Helen R. , Fairchild Graeme , Tierney Kevin M. , McCartney Deborah L. , Cross Justin J. , de Vries Petrus J.
Published: September 2011

In 2006, we reported the cognitive and behavioral phenotype of the seventh case of Roifman syndrome (OMIM 300258). Aged 11 years 6 months, the patient displayed significant intellectual disability with proportionate impairments in attentional‐executive, memory, and visuo‐spatial abilities despite appearing socially “able.” This discrepancy may be explained by good social‐emotional skills masking his intellectual disability, by decline in cognitive abilities over time, or by unusual neuroradiological abnormalities not previously examined in Roifman syndrome. Here, we present results from a structural MRI scan, neurocognitive evaluations repeated 2 and 5 years post‐baseline and assessments of face and emotional processing. The MRI revealed partial agenesis of the corpus callosum, bilateral hypoplastic hippocampi but bilaterally intact amygdala. No evidence was found for decline in the patient's neurocognitive profile. Emotional processing data indicated an age‐appropriate pattern of reactivity to emotional stimuli and preserved facial identity recognition abilities, but impairments in recognition of negative facial expressions. The results confirmed a stable pattern of intellectual disability, and indicated that Roifman syndrome may be associated with major structural neuro‐anatomical abnormalities. We suggest that the relative strengths in emotion and face processing are consistent with the patient's apparently able social behavior, and with intact amygdalar function. © 2011 Wiley‐Liss, Inc.
Visual processing in Noonan syndrome: Dorsal and ventral stream sensitivity
Authors: Alfieri Paolo , Cesarini Laura , De Rose Paola , Ricci Daniela , Selicorni Angelo , Menghini Deny , Guzzetta Andrea , Baranello Giovanni , Tinelli Francesca , Mallardi Maria , Zampino Giuseppe , Vicari Stefano , Atkinson Janette , Mercuri Eugenio
Published: September 2011

Global spatial and motion processing abilities were assessed in 18 patients with Noonan syndrome (NS) and in 43 matched controls using form and motion coherence testing, respectively. We observed a discrepancy between the two groups since the study group had significantly lower performances than the control group for form coherence while there was no impairment on motion coherence. All the patients were also assessed on the Movement Assessment Battery for Children (M‐ABC) to evaluate visuomotor skills. Thirteen of the 18 (72%) also had global poor performances on the M‐ABC. The results show that children with NS have a specific impairment in the global processing of visuospatial information and are likely to have a specific ventral stream deficit as also suggested by the frequent visuomotor perceptual difficulties. Testing form and motion coherence thresholds may be a useful diagnostic tool for this group of patients, despite their normal cognitive abilities, since aspects of global form processing and visuomotor perceptual difficulties can be identified and potentially targeted for a specific rehabilitation program. © 2011 Wiley‐Liss, Inc.
New case of Primrose syndrome with mild intellectual disability
Authors: Posmyk Renata , Leśniewicz Ryszard , Chorąży Monika , Wołczyński Sławomir
Published: September 2011

We report on a 27‐year‐old man, who represents the sixth and the youngest published case of Primrose syndrome. Primrose syndrome (PS) (OMIM#295090) is an extremely rare entity of unknown etiology characterized by the progressive wasting of distal muscles of the legs, the small muscles of the hands resulting in contractures, the presence of intellectual disability, hearing problems, cataracts, brain calcification, and the ossification of ear cartilage. All the main manifestations were present in our patient. Despite the phenotypic similarity to five other cases, our patient had mild intellectual disability. Additionally we found hypergonadotropic hypogonadism and a low bone density due to progressive osteoporosis. We discuss our observations in relation to previously published cases, and we stress the need for the detail and phenotypic descriptions of further cases as PS remains rare, and the genetic basis is still undiscovered. © 2011 Wiley Periodicals, Inc.
Obstructive uropathy caused by an inguinal hernia in a kidney transplant recipient: Report of hernia cure by the shouldice technique
Authors: Tran Duy , Gaboriault Josée , Collette Suzon , Senécal Lynne , Morin Michel , Boucher Anne , Dandavino Raymond
Published: September 2011

We report the case of kidney graft dysfunction secondary to ureteral obstruction caused by an inguinal hernia. A 52‐year‐old renal transplant recipient was admitted to our transplantation unit for abdominal pain and acute rise in serum creatinine level. Radiological work‐up showed that the distal transplant ureter was trapped in a left inguinal hernia. After placement of a temporary percutaneous nephrostomy tube and hernia repair by the Shouldice technique, the graft function improved and has remained stable at 1 year of follow‐up. Although infrequent, inguinal hernia can be a cause of obstructive uropathy and graft failure in a transplanted kidney, and the Shouldice technique is appropriate for cure of hernia in this setting. Dial. Transplant. © 2011 Wiley Periodicals, Inc.
Variation in δD values of a single, species‐specific molecular biomarker: a study of miliacin throughout a field of broomcorn millet (Panicum miliaceum L.)
Authors: Bossard Nicolas , Jacob Jérémy , Le Milbeau Claude , Lallier‐Vergès Elisabeth , Terwilliger Valery J. , Boscardin Rachel
Published: September 2011

Compound‐specific δD analyses of land plant‐derived biomarkers preserved in lake sediments are gaining increasing interest in paleoclimatic studies because of their potential to record essential information on the climatic conditions that prevailed at the time of their synthesis. The accuracy of inferences about climate from these analyses could be better constrained with more study of the variability in the δD values of possible inputs at catchment scales. We measured the δD values of miliacin (olean‐18‐en‐3β‐ol methyl ether) extracted from the seeds of millet plants collected in 21 stands spatially distributed in a field with visually heterogeneous soil organic matter contents. The use of a single molecular biomarker extracted from a single plant species eliminates the possibility of variability caused by differences in plant type. The δD values differed between plants by as much as 50‰ and the average δD values per stand differed from one another by a maximum of 30‰. Thus, the δD values of a single, species‐specific biomarker can vary markedly among plants even within a similar climate. Differences in δD values within stands could be as high as between stands, suggesting that the δD values are not related to macroscale heterogeneities in soil organic matter content. In addition, δD values were unrelated to factors indicative of differences in environment such as plant height, seed weight or miliacin concentration. The average miliacin δD value was representative of the area sampled, however, since it was normally distributed (p < 0.05). Copyright © 2011 John Wiley & Sons, Ltd.
Molecular dynamic‐secondary ion mass spectrometry (D‐SIMS) ionized by co‐sputtering with C60+ and Ar+
Authors: You Yun‐Wen , Chang Hsun‐Yun , Lin Wei‐Chun , Kuo Che‐Hung , Lee Szu‐Hsian , Kao Wei‐Lun , Yen Guo‐Ji , Chang Chi‐Jen , Liu Chi‐Ping , Huang Chih‐Chieh , Liao Hua‐Yang , Shyue Jing‐Jong
Published: September 2011

Dynamic secondary ion mass spectrometry (D‐SIMS) analysis of poly(ethylene terephthalate) (PET) and poly(methyl methacrylate) (PMMA) was conducted using a quadrupole mass analyzer with various combinations of continuous C60+ and Ar+ ion sputtering. Individually, the Ar+ beam failed to generate fragments above m/z 200, and the C60+ beam generated molecular fragments of m/z ~1000. By combining the two beams, the auxiliary Ar+ beam, which is proposed to suppress carbon deposition due to C60+ bombardment and/or remove graphitized polymer, the sputtering range of the C60+ beam is extended. Another advantage of this technique is that the high sputtering rate and associated high molecular ion intensity of the C60+ beam generate adequate high‐mass fragments that mask the damage from the Ar+ beam. As a result, fragments at m/z ~900 can be clearly observed. As a depth‐profiling tool, the single C60+ beam cannot reach a steady state for either PET or PMMA at high ion fluence, and the intensity of the molecular fragments produced by the beam decreases with increasing C60+ fluence. As a result, the single C60+ beam is suitable for profiling surface layers with limited thickness. With C60+‐Ar+ co‐sputtering, although the initial drop in intensity is more significant than with single C60+ ionization because of the damage introduced by the auxiliary Ar+, the intensity levels indicate that a more steady‐state process can be achieved. In addition, the secondary ion intensity at high fluence is higher with co‐sputtering. As a result, the sputtered depth is enhanced with co‐sputtering and the technique is suitable for profiling thick layers. Furthermore, co‐sputtering yields a smoother surface than single C60+ sputtering. Copyright © 2011 John Wiley & Sons, Ltd.
Profiling and quantification ofDrosophila melanogasterlipids using liquid chromatography/mass spectrometry
Authors: Hammad Loubna A. , Cooper Brandon S. , Fisher Nicholas P. , Montooth Kristi L. , Karty Jonathan A.
Published: September 2011

We present here the findings of global profiling of Drosophila lipids using liquid chromatography/tandem mass spectrometry (LC/MS/MS) on an LTQ‐Orbitrap instrument. In addition, we present a multiple reaction monitoring (LC‐MRM) method for the absolute quantification of the major phosphatidylethanolamine (PE) and phosphatidylcholine (PC) lipids of Drosophila.

Using both normal‐ and reversed‐phase LC followed by accurate mass analysis and MS/MS on an LTQ‐Orbitrap instrument, we evaluated the lipid composition of the fruit flyDrosophila melanogaster. A total of 74 lipid species were identified consisting of glycerphospholipids belonging to the PE, PC, phosphatidylglycerol (PG), phosphatidylinositol (PI) and phosphatidylserine (PS) classes including several plasmanyl PE species, as well as triacylglycerides, cardiolipins, ceramides, and PE ceramides.

Individual PE and PC phospholipids were then quantified using an LC‐MRM approach. Reversed‐phase chromatography followed by monitoring on a QTrap 4000 instrument of 21 MRM transitions combined with calibration curves constructed using internal standards enabled the absolute quantification of 28 PE and PC lipid species with limits of quantification of 3 and 5 pg/μL, respectively. Internal standards accounted for the differences in ionization efficiencies of PE and PC phospholipids, facilitating more accurate lipid abundance measurements.

The method presented here builds on previous Drosophila work by making the quantification of absolute lipid abundance possible and will be of interest to scientists who study variation and changes in the degree of unsaturation, fatty acid carbon length, and head‐group concentration among individuals of different genotypes in response to environmental, genetic, or physiological perturbation in small insects. It will also be particularly useful to biologists interested in adaptation and acclimation of cellular membranes in response to thermal heterogeneity. Copyright © 2011 John Wiley & Sons, Ltd.
Integrating Immigrants into the Life of Canadian Urban Christian Congregations: Findings from a National Survey
Authors: Janzen Rich , Chapman Mark D. , Watson James W.
Published: September 2011

In just one generation the cultural face of Canadian society has been transformed. The relative level of immigration has increased rapidly as has diversity among those immigrants. This article reports on the findings of a national survey that offers a baseline of how and to what extent local Canadian Christian congregations are responding to this cultural diversity. In particular, it explores how churches are integrating immigrants within the life of their local congregations. This article uses a systems change perspective to frame immigrant integration. This perspective emphasizes three requirements for change: vision, structure and processes that promote immigrant integration. Data was collected using an online survey of urban congregations in the nine urban Canadian communities having an immigrant population above the national average (20% foreign-born). Using these data this article explores the full range of immigrant integration efforts from the initial welcome to inclusion into congregational life. It describes the present status of immigrant integration, details reported successes and challenges and notes respondent suggestions for better integration. Results of this survey provide first-time baseline insights into how a range of urban Christian congregations from across Canada are presently responding to the Canadian immigrant reality.
Adolescent romantic couples influence on substance use in young adulthood
Authors: Gudonis‐Miller Lauren C. , Lewis Lisa , Tong Yan , Tu Wanzhu , Aalsma Matthew C.
Published: September 2011

Research has demonstrated that adolescent peer group affiliations are consistent predictors of substance use initiation and maintenance; it is less clear how adolescent romantic relationships influence substance use behavior. Data were drawn from the National Longitudinal Study of Adolescent Health. Participants in the final dataset for the current study included adolescents (321 males and 321 females) who were identified in reciprocated romantic relationships at Wave 1 (1994–1995; mean age 16.7 years) that were followed into young adulthood and reassessed at two different time points (Wave 2 in 1996, mean age 17.7, and Wave 3 in 2001–2002, mean age 23.1). Data were gathered from both partners, and included demographic variables, longitudinal measures of substance use (alcohol, tobacco, and marijuana), and relationship seriousness. Hierarchical linear modeling using SAS PROC MIXED were utilized to test for individual versus partner influences. Results revealed individual and partner effects for the prediction of alcohol and tobacco, although individual effects were generally greater than partner influences. For marijuana use, as self‐reported relationship seriousness increased, future marijuana use decreased. These findings suggest the developmental significance of adolescent romantic relationships on the prediction of future substance use behavior during young adulthood.
Specialty Care Programme for Autism Spectrum Disorders in an Urban Population: A Case-Management Model for Health Care Delivery in an asd Population
Authors: Parellada M. , Boada L. , Moreno C. , Llorente C. , Romo J. , Muela C. , Arango C.
Published: September 2011

Subjects with autism spectrum disorders (ASD) have more medical needs and more difficulties accessing health care services than the general population. Their verbal and non-verbal communication difficulties and particular behaviors, along with lack of expertise on the part of physicians and failure of the services to make adjustments, make it difficult for them to obtain an appropriate health care.

Purpose

To describe a model for health care delivery in an ASD population.

Method

Review of relevant literature and a discussion process with stakeholders leading to the design of a service to meet the specialty health needs of subjects of all ages with ASD for a region with a population of 6,000,000.

Results

A service was designed centred around the concepts of case management, individualization, facilitation, accompaniment, continuous training and updating, and quality management. Five hundred and thirteen patients with ASD have been seen over a period of 18 months. The programme generated 1566 psychiatric visits and 1052 visits to other specialties (mainly Nutrition, Stomatology, Neurology, and Gastroenterology) in the same period.

Conclusion

Persons with ASD may benefit from adjustments of health care services in order to improve their access to adequate health care at the quality level of the rest of the population.
Role of CD8 T cell subsets in the pathogenesis of multiple sclerosis
Authors: Saxena A. , Martin-Blondel G. , Mars L.T. , Liblau R.S.
Published: September 2011

Multiple sclerosis (MS) is an immune‐mediated disease of the central nervous system leading to demyelination and axonal/neuronal loss. Cumulating evidence points to a key role for CD8 T cells in this disabling disease. Oligoclonal CD8 T cells reside in demyelinating plaques where they are likely to contribute to tissue destruction. Histopathological analyses and compelling observations from animal models indicate that cytotoxic CD8 T cells target neural cell populations with the potential of causing lesions reminiscent of MS. However, CD8 T cell differentiation results in several subsets of effector CD8 T cells that could be differentially implicated in the mechanisms contributing to tissue damage. Moreover CD8 regulatory T cells arise as important populations involved in restoring immune homoeostasis and in maintaining immune privileged sites. Here we examine the current literature pertaining to the role of CD8 effector and regulatory T cell subsets in the pathogenesis of MS.
Determinants of Consumer Perceptions toward Mobile Advertising — A Comparison between Japan and Austria
Authors: Liu Chia-Ling ‘Eunice’ , Sinkovics Rudolf R. , Pezderka Noemi , Haghirian Parissa
Published: September 2011

Mobile marketing provides an innovative channel for transmitting advertising messages to customers via mobile devices. The growth of mobile advertising in recent years requires that researchers and practitioners understand consumer perceptions of this form of advertising. The purpose of this paper is to investigate factors influencing the perception of mobile advertising in different cultures. Based on samples from Austria and Japan, we empirically examine relevant m-advertising effects. The results suggest that infotainment and credibility are key factors predicting advertising value among Austrians and the Japanese. However, our findings show that Japanese customers are more irritated by mobile advertising than are Austrian respondents.
Anaphylactic Events Observed within 4 h of Ocular Application of an Antibiotic-Containing Ophthalmic Preparation: 61 Cats (1993–2010)
Authors: Hume-Smith Karen M , Groth Allyson D , Rishniw Mark , Walter-Grimm Linda A , Plunkett Signe J , Maggs David J
Published: September 2011

This study describes signalment, history, antibiotic administered, clinical signs observed, therapy, and outcome of anaphylactic events within 4 h following ophthalmic administration of an antibiotic to cats. Data came from survey responses (45 cats) or Federal Drug Administration reports (16 cats). Cat age (7 weeks—19 years), breed, and gender ranged widely. Most were healthy (87%) prior to anaphylaxis. Ophthalmic antibiotics commonly were administered for conjunctival (65%) or corneal (11%) disease, or ocular lubrication (7%) and contained bacitracin, neomycin, and polymyxin B (44%), or oxytetracycline and polymyxin B (21%). Polymyxin B was present in all cases. Vaccines or other drugs were also administered to 51% of cats. In 56% cases, anaphylaxis occurred within 10 min of drug application. Most (82%) cats survived. Although a causal association was not proved, ophthalmic antibiotic administration preceded anaphylaxis in all cats. Like other drugs, ophthalmic antibiotics should be used only when indicated.
Central Diabetes Insipidus in a Cat with Central Nervous System B Cell Lymphoma
Authors: Simpson Christopher J , Mansfield Caroline S , Milne Marjorie E , Hodge Priscilla J
Published: September 2011

A 6-year-old male neutered cat presented with blindness, lethargy, polydipsia, hyposthenuria and severe hypernatraemia. Central diabetes insipidus was demonstrated by means of a low measured anti-diuretic hormone (ADH) concentration in the face of hypernatraemia, and clinical response to supplementation with desmopressin. Magnetic resonance imaging of the brain showed a discrete mass in the region of the hypothalamus. The cat was euthanased and post-mortem histological examination demonstrated B cell lymphoma involving the brain, optic nerves, urinary bladder wall and diaphragm. To the authors' knowledge, this case report is the first to describe central diabetes insipidus caused by central nervous system lymphoma in the cat.
Kardiorenales Anämiesyndrom – Die nephrologische Sichtweise
Authors: Stracke Sylvia , Kalantar-Zadeh Kamyar
Published: September 2011

Die Ausprägung der Anämie bei Nierenkranken ist mit Linksherzhypertrophie, Herzinsuffizienz und einer erhöhten Sterblichkeit assoziiert. Für das Zusammentreffen dieser Befunde – Niereninsuffizienz, Herzinsuffizienz und Anämie – wurde im Jahr 2006 erstmals der Begriff ”kardiorenales Anämiesyndrom“ geprägt. Eine verminderte Erythropoetinsynthese und -wirkung an den Zielzellen, ein absoluter oder funktioneller Eisenmangel und die Verwendung von Medikamenten, die die Blutbildung beeinträchtigen, können bei nierenkranken Menschen zu einer Anämie führen. Die am häufigsten benutzten Marker zur Erfassung des Eisenstatus sind Serumeisen, Transferrinsättigung und Serumferritin sowie der Prozentsatz hypochromer Erythrozyten. Eine Anämie bei Nierenkranken ist mit einer rascheren Progression der Niereninsuffizienz und einer erhöhten Mortalität assoziiert. Daher versuchte man, durch eine Korrektur der Anämie diese Endpunkte günstig zu beeinflussen. Allerdings zeigten mehrere große Interventionsstudien, dass eine Normalisierung der Hämoglobinwerte bei Nierenkranken (vor allem durch eine Gabe höherer Dosen Erythropoese stimulierender Agenzien) paradoxerweise mit einem gleichen oder sogar schlechteren Outcome assoziiert ist. In neuesten Empfehlungen wurde daher für diese Patienten der Hämoglobinzielwert auf 11–12 g/dl nach unten korrigiert. Durch Erythropoese stimulierende Agenzien erzielte Hämoglobinzielwerte von mehr als 13 g/dl sind zu vermeiden, während solch hohe Werte auf natürlichem Wege erreicht werden dürfen. Die relative Thrombozytose bei einem unbehandelten Eisenmangel könnte bei der gleichzeitigen Überdosierung von Erythropoese stimulierenden Agenzien für die erhöhte Inzidenz an thromboembolischen Ereignissen verantwortlich sein. Der Eisenstatus sollte regelmäßig kontrolliert werden und ein Eisenmangel – absolut oder funktionell – soll bei jeder Therapie mit Erythropoese stimulierenden Agenzien ausgeglichen werden.
General hypothesis for nanowire synthesis. I. Extended principles and evidential (experimental and theoretical) demonstration
Authors: Noor Mohammad S.
Published: September 2011

Nanowires, nanotubes, and nanodots (quantum dots) are nanomaterials (NMTs). While nanodots are miniaturized nanowires, nanotubes are hollow nanowires. A universal model for basic science of the synthesis and characteristics of NMTs must be established. To achieve this goal, a general hypothesis has been presented. This hypothesis makes use of the concept of droplets from seeds, the fundamentals of the adhesive properties of droplets, and a set of droplet characteristics. Fundamentals underlying the droplet formation from nanoparticle seeds under various physicochemical and thermodynamic conditions have been articulated. A model of thermodynamic imbalance of seeds at the growth temperature has been formulated. The dependence of thermodynamic imbalance on parameters such as surface energy, temperature, seed dimension, etc. has been described. The role of thermodynamic imbalance of seeds and of the foreign element catalytic agent (FECA) on NMT growth has been examined. Three different NMT growths, namely, FECA-free NMT growth; FECA-mediated non-eutectic NMT growth; and FECA-mediated eutectic NMT growth, have been considered. FECA-free NMT growth, and non-eutectic but FECA-mediated NMT growth, have been assumed to involve nanopores, grains, and grain boundaries in the seed. The basic science of all the NMT growths utilizes the concept of the creation of tiny component droplets (CODs). Extensive evidential (experimental and theoretical) demonstration of the hypothesis has been put forth. Both theoretical and experimental results lend support to the hypothesis. Calculated results address the roles of both the FECA-mediated and FECA-free droplets for NMT growths. The basics of multiple nucleation and biphasic structures have been spelled out. Possible relationship between the activation energy and the precursor decomposition on the droplet surface at the lowest possible temperature has been elucidated. The differences between the eutectic and no-eutectic seeds, the importance of thermodynamic imbalances in the creation of nanopores inside seeds, and the physicochemical reasons of nanowire growth at temperatures far below the seed’s eutectic temperature (and/or melting temperature) have been revealed. Experimental evidences, particularly for CODs, droplets, dipole moment of the seeds (droplets), immovability of droplets, multiple nucleation, biphasic structures, etc., quantify the validity of the hypothesis.
General hypothesis for nanowire synthesis. II: Universality
Authors: Noor Mohammad S.
Published: September 2011

A universal model for basic science of nanowire, nanotube, and nanodot syntheses by the solid-phase, liquid-phase, and vapor-phase mechanisms must be established. To our knowledge, the syntheses of these nanomaterials by the solid-liquid-solid (SLS) and fluid-liquid-solid (FLS) mechanisms have not been understood well. Extensive investigations of the basic features of SLS and FLS mechanisms for nanowire synthesis in the framework of general hypothesis put forth in the preceding paper have been carried out. These have explained why nanowires grown by the SLS mechanism are almost always amorphous. These have explained also why nanowires produced by the catalyst-mediated FLS mechanism have diameters almost always smaller than the diameters of catalyst seed. SLS growth is believed to be a high-temperature process. The actual temperature for this process has been examined. Concept of component seeds (CSDs), component droplets (CODs) from CSDs, and droplets from CODs, has been exploited for the investigations. Evidential (experimental and theoretical) demonstration of the hypothesis for the SLS and FLS growths of nanowires has been carried out. Possible relationship between the activation energy and the precursor decomposition on the droplet surface at the lowest possible temperature has been examined. Evidences of the role of dipole moment in the catalyst-mediated and catalyst-free FLS growth of nanowires, and of the role of droplets in the multiple nucleation of nanowires have been articulated. Evidences have also been presented to highlight the importance of the concentration gradient of the nanowire species and the motive force resulting from this concentration gradient. Quantum dots are miniaturized nanowires. Shortcomings of the conventional methods for large-scale quantum dot synthesis have been discussed. The usefulness of the self-catalytic mechanism for large-scale synthesis of the quantum dots has been elaborated. The importance of thermodynamic imbalance of seeds in nonmaterial growths has been established. Droplet-free scenario for nanowire growth has been envisioned. Ground rules for nanowire heterostructures have been proposed. Experimental results support the findings and demonstrations. The investigations appear to reveal a unified synthetic route of all nanomaterials (e.g., nanowires, nanotubes, and nanodots). They suggest that growths of these nanomaterials may be explained just from one single platform.
Stimulated Raman back-scattering of a laser in a magnetized plasma channel
Authors: Kaur Sukhdeep , Sharma A. K.
Published: September 2011

A Gaussian laser beam, propagating as an eigenmode through a low density plasma channel in the presence of an axial magnetic field, undergoes stimulated Raman back scattering, producing an upper hybrid wave and a radially localized electromagnetic sideband wave. The channel may be self created by the laser due to ponderomotive force or by a pre-pulse. The radial width of sideband is ≈a and Langmuir wave of extent b≈(aλD)1/2<<a. The nonlocal effect arising, due to self generated magnetic field, modifies the electron response to these Eigen modes, reduces the region of nonlocal interaction and hence the growth rate. The growth rate decreases with the pump wave amplitude and it maximum for back scattering. A nonlocal theory of stimulated Raman back-scattering of a laser, propagating through a plasma channel in the presence of an axial magnetic field, is developed. The laser excites a forward propagating upper hybrid mode, that is strongly localized radially, and a backward propagating electromagnetic wave-sideband. The growth rate significantly decreases with the magnetic field.
NVU dynamics. I. Geodesic motion on the constant-potential-energy hypersurface
Authors: Ingebrigtsen Trond S. , Toxvaerd Søren , Heilmann Ole J. , Schrøder Thomas B. , Dyre Jeppe C.
Published: September 2011

An algorithm is derived for computer simulation of geodesics on the constant-potential-energy hypersurface of a system of N classical particles. First, a basic time-reversible geodesic algorithm is derived by discretizing the geodesic stationarity condition and implementing the constant-potential-energy constraint via standard Lagrangian multipliers. The basic NVU algorithm is tested by single-precision computer simulations of the Lennard-Jones liquid. Excellent numerical stability is obtained if the force cutoff is smoothed and the two initial configurations have identical potential energy within machine precision. Nevertheless, just as for NVE algorithms, stabilizers are needed for very long runs in order to compensate for the accumulation of numerical errors that eventually lead to “entropic drift” of the potential energy towards higher values. A modification of the basic NVU algorithm is introduced that ensures potential-energy and step-length conservation; center-of-mass drift is also eliminated. Analytical arguments confirmed by simulations demonstrate that the modified NVU algorithm is absolutely stable. Finally, we present simulations showing that the NVU algorithm and the standard leap-frog NVE algorithm have identical radial distribution functions for the Lennard-Jones liquid.