bluuebunny/crossref_metadata_2025_split huggingface dataset:
Comparative analysis of the Acyrthosiphon pisum genome and expressed sequence tag‐based gene sets from other aphid species
Authors: Ollivier M. , Legeai F. , Rispe C. 
Published: February 2010

AbstractTo study gene repertoires and their evolution within aphids, we compared the complete genome sequence of Acyrthosiphon pisum (reference gene set) and expressed sequence tag (EST) data from three other species: Myzus persicae, Aphis gossypii and Toxoptera citricida. We assembled ESTs, predicted coding sequences, and identified potential pairs of orthologues (reciprocical best hits) with A. pisum. Pairwise comparisons show that a fraction of the genes evolve fast (high ratio of non‐synonymous to synonymous rates), including many genes shared by aphids but with no hit in Uniprot. A detailed phylogenetic study for four fast‐evolving genes (C002, JHAMT, Apo and GH) shows that rate accelerations are often associated with duplication events. We also compare compositional patterns between the two tribes of aphids, Aphidini and Macrosiphini.
Counterpoints of care: two moments of struggle
Authors: Gleeson B. 
Published: February 2010

AbstractThis paper examines the history of care in modern society and seeks to expose how deep transformations in care arise from wider social relations. From historical survey we may discern a series of transitional points, where the practice and the experience of care was greatly, sometimes suddenly, redefined. Each betrayed deeper political and ethical struggles that went to the core of social relations, and which weren't merely therapeutic in nature. This paper explores two such ‘moments’. I first examine the emergence of a new institutional landscape during the middle industrial era, in the wake of a series of legal and political reforms that sought to settle a social order uprooted and distressed by raw modernisation. I provide a composite, yet incomplete view, of how this transformation proceeded in one urban setting, colonial Melbourne. In the second instance, I review the ambitions and process of deinstitutionalisation in the late 20th century. Ostensibly, this reform sought, inter alia, to collapse the great division between ‘fit’ and ‘unfit’ established in 1834. Again, empirical reference is made to the reconstitution of care in Melbourne, Australia, this time during its late 20th experience of institutional reform. The focus in this case is the process of downscaling and closure for a major congregate facility, Kew Cottages. The major conclusion is that periods of intense transition in the ideology and mode of care are reflective of wider social transformations not merely of therapeutic or institutional shifts.
‘People who need people’: attachment and professional caregiving
Authors: Schuengel C. , Kef S. , Damen S. , Worm M. 
Published: February 2010

AbstractFrom the perspective of attachment theory, this paper discusses individual differences in the quality of caregiving by direct‐care staff for persons with intellectual disabilities. Theoretical arguments and findings from related literature are cited to support the probable role of professionals’ own attachment experiences and their mental representations thereof. Case examples are drawn from a study on video‐based interaction guidance for direct‐care staff in group homes for persons with multiple, serious disabilities. These examples illustrate how interventions may avoid attachment‐related defences against changing the quality and affective mutuality of personal contact with clients. However, the possibility is discussed that in parallel processes, quality management systems and institutional culture may selectively reinforce care patterns associated with insecure, dismissing attachment, while failing to reward the positive contribution that sensitive, affectively attuned caregiving makes to wellbeing of persons with disabilities.
Death in CHARGE syndrome after the neonatal period
Authors: Bergman JEH , Blake KD , Bakker MK , Du Marchie Sarvaas GJ , Free RH , Van Ravenswaaij‐Arts CMA 
Published: February 2010

Bergman JEH, Blake KD, Bakker MK, du Marchie Sarvaas GJ, Free RH, van Ravenswaaij‐Arts CMA. Death in CHARGE syndrome after the neonatal period.CHARGE syndrome is a multiple congenital anomaly syndrome that can be life‐threatening in the neonatal period. Complex heart defects, bilateral choanal atresia, esophageal atresia, severe T‐cell deficiency, and brain anomalies can cause neonatal death. As little is known about the causes of death in childhood and adolescence, we studied post‐neonatal death in patients with CHARGE syndrome. We collected medical data on three deceased children from a follow‐up cohort of 48 CHARGE patients and retrospectively on an additional four deceased patients (age at death 11 months to 22 years). We analyzed the factors that had contributed to their death. In five patients respiratory aspiration had most likely contributed to premature death, one died of post‐operative complications, and another choked during eating. From our findings and a literature review, we suggest that swallowing problems, gastro‐esophageal reflux disease, respiratory aspiration and post‐operative airway events are important contributors to post‐neonatal death in CHARGE syndrome. Cranial nerve dysfunction is proposed as the underlying pathogenic mechanism. We recommend every CHARGE patient with feeding difficulties to be assessed by a multidisciplinary team to evaluate cranial nerve function and swallowing. Timely treatment of swallowing problems and gastro‐esophageal reflux disease is important. Surgical procedures on these patients should be combined whenever possible because of their increased risk of post‐operative complications and intubation problems. Finally, we recommend performing autopsy in deceased CHARGE patients in order to gain more insight into causes of death.
Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan
Authors: Rafiq MA , Ansar M , Marshall CR , Noor A , Shaheen N , Mowjoodi A , Khan MA , Ali G , Amin‐ud‐Din M , Feuk L , Vincent JB , Scherer SW 
Published: February 2010

Rafiq MA, Ansar M, Marshall CR, Noor A, Shaheen N, Mowjoodi A, Khan MA, Ali G, Amin‐ud‐Din M, Feuk L, Vincent JB, Scherer SW. Mapping of three novel loci for non‐syndromic autosomal recessive mental retardation (NS‐ARMR) in consanguineous families from Pakistan.To date, of 13 loci with linkage to non‐syndromic autosomal recessive mental retardation (NS‐ARMR), only six genes have been established with associated mutations. Here we present our study on NS‐ARMR among the Pakistani population, where people are traditionally bound to marry within the family or the wider clan. In an exceptional, far‐reaching genetic survey we have collected more than 50 consanguineous families exhibiting clinical symptoms/phenotypes of NS‐ARMR. In the first step, nine families (MR2‐9 and MR11) with multiple affected individuals were selected for molecular genetic studies. Two families (MR3, MR4) showed linkage to already know NS‐ARMR loci. Fifteen affected and 10 unaffected individuals from six (MR2, MR6, MR7, MR8, MR9 and MR11) families were genotyped by using Affymetrix 5.0 or 6.0 single‐nucleotide polymorphism (SNP) microarrays. SNP microarray data was visually inspected by dChip and genome‐wide homozygosity analysis was performed by HomozygosityMapper. Additional mapping was performed (to exclude false‐positive regions of homozygosity called by HomozygosityMapper and dChip) on all available affected and unaffected members in seven NS‐ARMR families, using microsatellite markers. In this manner we were able to map three novel loci in seven different families originating from different areas of Pakistan. Two families (MR2, MR5) showed linkage on chromosome 2p25.3‐p25.2. Three families (MR7, MR8, and MR9) that have been collected from the same village and belong to the same clan were mapped on chromosome 9q34.3. MR11 maps to a locus on 9p23‐p13.3. Analysis of MR6 showed two positive loci, on chromosome 1q23.2‐q23.3 and 8q24.21‐q24.23. Genotyping in additional family members has so far narrowed, but not excluded the 1q locus. In summary, through this study we have identified three new loci for NS‐ARMR, namely MRT14, 15 and 16.
The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes
Authors: Stratakis CA , Tichomirowa MA , Boikos S , Azevedo MF , Lodish M , Martari M , Verma S , Daly AF , Raygada M , Keil MF , Papademetriou J , Drori‐Herishanu L , Horvath A , Tsang KM , Nesterova M , Franklin S , Vanbellinghen J‐F , Bours V , Salvatori R , Beckers A 
Published: February 2010

Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori‐Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen J‐F, Bours V, Salvatori R, Beckers A. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes.The prevalence of germline mutations in MEN1, AIP, PRKAR1A, CDKN1B and CDKN2CI is unknown among pediatric patients with pituitary adenomas (PA). In this study, we screened children with PA for mutations in these genes; somatic GNAS mutations were also studied in a limited number of growth hormone (GH) or prolactin (PRL)‐secreting PA. We studied 74 and 6 patients with either isolated Cushing disease (CD) or GH‐ or PRL‐secreting PA, respectively. We also screened four pediatric patients with CD, and four with GH/PRL‐secreting tumors who had some syndromic features. There was one AIP mutation (p.Lys103Arg) among 74 CD patients. Two MEN1 mutations that occurred in patients with recurrent or difficult‐to‐treat disease were found among patients with CD. There was one MEN1 and three AIP mutations (p.Gln307ProfsX104, p.Pro114fsX, p.Lys241X) among pediatric patients with isolated GH‐ or PRL‐secreting PA and one additional MEN1 mutation in a patient with positive family history. There were no mutations in the PRKAR1A, CDKN1B, CDKN2C or GNAS genes. Thus, germline AIP or MEN1 gene mutations are frequent among pediatric patients with GH‐ or PRL‐secreting PA but are significantly rarer in pediatric CD; PRKAR1A mutations are not present in PA outside of Carney complex.
Dystrophic calcification following neonatal heel‐prick testing
Authors: Kurzydlo Ann‐Maree , Hannaford Rodney 
Published: February 2010

ABSTRACTA 7‐year‐old boy presented with a 5‐year history of dystrophic calcification manifesting as solitary nodules on the plantar aspect of both heels. Microscopic examination showed hyperkeratosis and psoriasiform hyperplasia overlying an area of dystrophic calcification. Multiple heel‐prick tests carried out during the neonatal period to monitor blood glucose levels are the likely causative mechanism.
Detection of human papillomavirus in a urothelial carcinoma mimicking urethral caruncle
Authors: Tatemichi Yoshinori , Oikawa Hiroki , Maesawa Chihaya , Ambo Junichi , Sato Masayuki , Koike Hiroyuki , Sata Tetsutaro , Fujioka Tomoaki , Masuda Tomoyuki 
Published: February 2010

AbstractPrimary carcinoma of the female urethra is an uncommon diagnosis, accounting for less than 0.02% of all carcinomas in women. Urothelial carcinomas occupying the distal urethra in young females are considered to be extremely rare. Here we report what we believe to be the sixth case of primary urothelial carcinoma in the published English‐language literature. The patient, a 26‐year‐old woman, presented with a distal urethral lesion that resembled a caruncle, but which was proved to be a urothelial carcinoma on histopathological examination of the resected specimen. Human papillomavirus type 51 DNA was detected in the tumor by polymerase chain reaction and in situ hybridization. These findings suggest that human papillomavirus might be involved in a subset of urothelial carcinomas of the urethra.
Beyond pain: predictors of postoperative maladaptive behavior change in children
Authors: FORTIER MICHELLE A. , DEL ROSARIO ANTONIO M. , ROSENBAUM ABRAHAM , KAIN ZEEV N. 
Published: February 2010

SummaryObjectives & Aim:  Using well‐validated measures and controlling for potential confounding variables such as pain and surgical and anesthetic technique, the goal of this project was to identify the incidence of and risk factors for the development of behavior change in children after surgery.Background:  Although researchers have described maladaptive behavior change following surgery, many previous studies are limited by potential confounding variables, including postoperative pain, type of surgery, and surgical and anesthetic procedure.Methods:  Participants included 260 children undergoing tonsillectomy and adenoidectomy. Baseline and demographic data were collected prior to surgery and pain and behavioral recovery were recorded for 2 weeks following surgery. A standardized approach to anesthesia and surgical procedure was implemented and well‐validated assessment measures were used.Results:  On the first day at home following surgery, 80.4% of children exhibited negative behavior change. Nearly one‐third of children continued to exhibit behavior changes 2 weeks after surgery. Logistic regression analyses that controlled for pain severity identified several predictors of behavior change: preexisting somatic and anxious/depressed problems predicted new onset postoperative general anxiety, χ2 (8) = 20.10, P = 0.010; younger age predicted separation anxiety, χ2 (4) = 20.41, P < 0.01; and inhibited temperament predicted postoperative sleep disturbance, χ2 (2) = 9.19, P = 0.010.Conclusions:  Individual child factors above and beyond pain predict maladaptive postoperative behavior change; identification of these predictors may be helpful in both preventing and ameliorating difficulties with behavioral recovery following surgery.
Variation and reliability of ultrasonographic quantification of the architecture of the medial gastrocnemius muscle in young children
Authors: Legerlotz Kirsten , Smith Heather K. , Hing Wayne A. 
Published: February 2010

SummaryThe aim of this study was to evaluate the suitability of ultrasonography for the quantification of gastrocnemius muscle architecture in healthy young children. The variation and reliability of measurement of muscle thickness, pennation angle and fibre length of the medial gastrocnemius were determined, using stationary and portable ultrasound machines, in 13 boys and eight girls aged 4–10. Ultrasound images were obtained from each leg, in duplicate, with the ankle at 90°, then at maximal plantar flexion, with the two machines within the same session. The same set of 16 scans was repeated in four children 4–6 weeks later. The mean muscle thickness, pennation angle and fibre length differed between ankle positions and between legs. Measurements obtained using the two machines established similar values with no significant differences in absolute values and coefficients of variation (CV). For duplicate images taken during the same session for the same leg, ankle position and machine, the CV and intraclass correlation coefficients (ICC) ranged, respectively, from 2·1% to 3·1% and 0·94–0·98 for muscle thickness, from 4·1% to 6·0% and 0·85–0·96 for pennation angle and from 4·5% to 6·3% and 0·87–0·96 for fibre length. Corresponding values for variables for the same child measured on two separate occasions were within the same ranges, all being similar to reliability data reported previously for adult muscle. Muscle thickness, pennation angle and fibre length of the medial gastrocnemius can therefore be quantified reliably, using either a stationary or portable ultrasound machine, in healthy young children.
The Differential and Contingent Impact of Concurrency on New Product Development Project Performance: A Holistic Examination*
Authors: Jayaram Jayanth , Malhotra Manoj K. 
Published: February 2010

ABSTRACTThis article comprehensively examines how the four facets of new product development (NPD) concurrency, consisting of process and product concurrency groupings, influence NPD project performance under the five contextual conditions of (i) location of product in family stream, (ii) project size, (iii) stage in the product life cycle, (iv) innovativeness of the product, and (v) predictability of market demand. Using data from a large sample of NPD projects in multiple industries, there is support for this hypothesized four‐faceted structure of concurrency, consisting of process and product concurrency groupings, thereby contributing new knowledge to the concurrency literature. All four facets of concurrency display a contingent impact on NPD project performance, even though individual effects vary according to the specific contextual variable under consideration. In particular, the process concurrency facet of dynamic iterative routines was universally effective across all five contextual variables, while the product concurrency facet of cross‐functional coordination was effective in significantly influencing at least one NPD project measure. This article also reports similar, but less strong, contingency patterns, with respect to the process concurrency facet of the implementation of downstream coordination and the product concurrency facet of the use of computer‐based integrated design tools. Theoretical and practical implications of our results are also offered.
Epigenetic therapy in myelodysplastic syndromes
Authors: Musolino Caterina , Sant’Antonio Emanuela , Penna Giuseppa , Alonci Andrea , Russo Sabina , Granata Angela , Allegra Alessandro 
Published: February 2010

AbstractThe wide spectrum of clonal hematopoietic disorders that fall under the broad diagnostic category of myelodysplastic syndromes (MDS) consist of a family of bone marrow malignancies – with ineffective, inadequate, and dysplastic hematopoiesis, and with an increased risk of life‐threatening infections, bleeding, and progression to acute myeloid leukemia (AML) – that are characterized by a deep heterogeneity on the clinical, biologic and prognostic level. The intrinsic complexity of this group of disorders and the frequent association with one or more comorbidities have limited for many years the number of effective treatment options available: most patients are, indeed, still managed by supportive care measures, with just a minority of them being eligible for allogeneic stem cell transplantation, which is still the only potentially curative modality. In the last two decades, the progressively better understanding of MDS biology has shown how an abnormal epigenetic modulation might play a crucial part in the pathogenesis and in the process of biologic evolution of these disorders. Moreover, pharmacological agents that target the so‐called epigenome have shown a significant clinical activity for diverse hematologic malignancies, including MDS. The aim of this review is to highlight recent developments within the context of current knowledge of MDS and its altered epigenetic regulation and to recall the experimental steps that have brought to the clinical development and application of epigenetic modifiers, such as azacytidine and decitabine, trying to explain the biologic rationale for their use in this setting.
Effects of long‐term use of HAART on oral health status of HIV‐infected subjects
Authors: Nittayananta Wipawee , Talungchit Sineepat , Jaruratanasirikul Sutep , Silpapojakul Kachornsakdi , Chayakul Panthip , Nilmanat Ampaipith , Pruphetkaew Nannapat 
Published: February 2010

J Oral Pathol Med (2010) 39: 397–406Background:  The aim of this study was to determine the effects of long‐term use of highly active antiretroviral therapy (HAART) on oral health status of HIV‐infected subjects.Methods:  Oral examination and measurement of saliva flow rate of both unstimulated and wax‐stimulated whole saliva were performed in HIV‐infected subjects with and without HAART, and in non‐HIV individuals. The following data were recorded; duration and risk of HIV infection, type and duration of HAART, CD4 cell count, viral load, presence of orofacial pain, oral dryness, oral burning sensation, oral lesions, cervical caries, and periodontal pocket. Multiple logistic regression analysis was performed to determine the effects of long‐term use of HAART on oral health status of HIV‐infected subjects.Results:  One hundred and fifty‐seven HIV‐infected subjects – 99 on HAART (age range 23–57 years, mean 39 years) and 58 not on HAART (age range 20–59 years, mean 34 years) – and 50 non‐HIV controls (age range 19–59 years, mean 36 years) were enrolled. The most common HAART regimen was 2 NRTI + 2 NNRTI. HIV‐infected subjects without HAART showed greater risks of having orofacial pain, oral dryness, oral lesions, and periodontal pockets than those with short‐term HAART (P < 0.01). The subjects with long‐term HAART were found to have a greater risk of having oral lesions than those with short‐term HAART (P < 0.05). The unstimulated and stimulated salivary flow rates of the subjects with HAART were significantly lower than in those without HAART (P < 0.05).Conclusion:  We conclude that long‐term HAART has adverse effects on oral health status of HIV‐infected subjects.
Recognition and treatment of genitourinary complications in paediatric Crohn’s disease using Infliximab
Authors: Afzal NA , Shenoy MU , Haque S , Wilcox DT , Shah N 
Published: February 2010

AbstractAlthough genitourinary complications of Crohn’s are well recognized, available information regarding their clinical course and management is sparse especially in the paediatric population. We report a myriad of urological complications in five paediatric cases, our experience from a tertiary paediatric urological and gastroenterological centre. All children with urological complications had severe Crohn’s disease which necessitated the use of immuno‐suppressants including Infliximab. Three of four children healed and closed their fistulas after treatment, although failed to avoid future surgery, albeit for other reasons.Conclusion:  We suggest Infliximab should be considered as a treatment option but in the absence of a common consensus, treatment be tailored to individual cases.
Diabetic mothers and their newborn infants – rooming‐in and neonatal morbidity
Authors: Stage E , Mathiesen ER , Emmersen PB , Greisen G , Damm P 
Published: February 2010

AbstractAim:  As a result of increased neonatal morbidity, the infants of diabetic mothers have routinely been admitted to a neonatal special care unit (NSCU). We therefore investigated whether the offer of rooming‐in diabetic mothers and their newborn infants has an effect on neonatal morbidity.Methods:  The records of an old cohort of 103 infants routinely admitted to the NSCU, and a new cohort (N = 102), offered rooming‐in were assessed for neonatal morbidity.Results:  Eighty‐four (82%) of the new cohort infants followed their mothers to the maternity ward; whereas 19 (18%) were transferred to the NSCU chiefly because of prematurity. Ten infants were later transferred to the NSCU for minor problems. Neonatal morbidity and neonatal hypoglycaemia were significantly less common in the new cohort than in the old cohort [27 (26%) vs. 55 (54%), p < 0.001 and 42 (41%) vs. 64 (63%), p = 0.0027 respectively]. Maternal HbA1c in late pregnancy was significantly lower in the new cohort, but the only independent predictors of neonatal morbidity were belonging to the old cohort and preterm delivery.Conclusion:  Neonatal care with rooming‐in mothers with type 1 diabetes and their newborn infants seems safe and is associated with reduced neonatal morbidity, when compared with routine separation of infants from their mothers.
Who Creates the Jobs?
Authors: Anyadike-Danes Michael , Hart Mark , Bonner Karen 
Published: February 2010

Abstract
Small business start-ups create most of the new jobs in our economy. It is an attractive argument to those who want governments to support small businesses. But is it true? Or are large firms the ones that generate most jobs? Michael Anyadike-Danes, Mark Hart and Karen Bonner examine a long-running and acrimonious dispute.