bluuebunny/crossref_metadata_2025_split huggingface dataset:
Surgical treatment of hip dislocation in Kabuki syndrome: Use of incomplete periacetabular osteotomy for posterior acetabular wall deficiency
Authors: Wada Akifusa , Nakamura Tomoyuki , Yamaguchi Toru , Yanagida Haruhisa , Takamura Kazuyuki , Oketani Yutaka , Kubota Hideaki , Fujii Toshio 
Published: July 2012

Purpose Kabuki syndrome is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, postnatal growth deficiency and mental retardation. This report reviews our results in the operative treatment of hip dislocations in patients with Kabuki syndrome. Methods Between 2001 and 2009, seven dislocated hips (three unilateral and two bilateral hips) in five patients (all girls) were operatively treated at our institution. The operative treatment consists of open reduction, femoral derotation varus osteotomy, pelvic osteotomy (Salter in one and incomplete periacetabular osteotomy in six hips) and capsular plication. The age of the patients at the time of surgery ranged from 2.4 to 5.7 years, with an average of 3.6 years. Results The follow-up postoperative period ranged from 3.2 to 6.3 years, with an average of 5.0 years. At the final follow-up, all patients reported no click and no pain, and showed well-contained hips by radiographs. All seven hips were graded as Severin class I-II. One patient presented as having habitual dislocation of the hip 4.4 years after surgery. Computed tomographic (CT) scans revealed posterior acetabular wall deficiency, which was not corrected by the anterolaterally directed Salter osteotomy. The incomplete periacetabular osteotomy provided sufficient posterolateral coverage of the acetabulum. Conclusion Operative treatment combining open reduction, femoral derotation varus and incomplete periacetabular osteotomies, and capsular plication provided successful results in patients with Kabuki syndrome who had the characteristics of hip instability such as ligamentous laxity, muscular hypotonia and posterior acetabular wall deficiency.
Measuring Cohabitation and Family Structure in the United States: Assessing the Impact of New Data From the Current Population Survey
Authors: Kennedy Sheela , Fitch Catherine A. 
Published: July 2012

Abstract
In 2007, the Current Population Survey (CPS) introduced a measure that identifies all cohabiting partners in a household, regardless of whether they describe themselves as “unmarried partners” in the relationship to householder question. The CPS now also links children to their biological, step-, and adoptive parents. Using these new variables, we analyze the prevalence of cohabitation as well as the demographic and socioeconomic characteristics of different-sex cohabiting couples during the years 2007–2009. Estimates of cohabitation produced using only unmarried partnerships miss 18 % of all cohabiting unions and 12 % of children residing with cohabiting parents. Although differences between unmarried partners and most newly identified cohabitors are small, newly identified cohabitors are older, on average, and are less likely to be raising shared biological or adopted children. These new measures also allow us to identify a small number of young, disadvantaged couples who primarily reside in households of other family members, most commonly with parents. We conclude with an examination of the complex living arrangements and poverty status of American children, demonstrating the broader value of these new measures for research on American family and household structure.
The will to give: charitable bequests, inter vivos gifts and community building in the Dutch Republic, c. 1600–1800
Authors: VAN NEDERVEEN MEERKERK ELISE 
Published: July 2012

ABSTRACTThis article explores the role of different social groups in early modern Dutch towns in organising and financing poor relief. Examining both the income structure of Dutch urban poor relief organisations and voluntary donations and bequests by citizens reveals what motivations lay behind their involvement, and how and why these changed over time. In the seventeenth century, ‘middle groups’ donated more often and higher mean amounts, reflecting their efforts to contribute to urban community building. In the eighteenth century, the elite became relatively more involved in charitable giving. Also, the urge to give to one's own religious group seems to have increased in this period.
UPF1 involvement in nuclear functions
Authors: Varsally Wazeer , Brogna Saverio 
Published: July 2012

UPF1 (up-frameshift 1) is a protein conserved in all eukaryotes that is necessary for NMD (nonsense-mediated mRNA decay). UPF1 mainly localizes to the cytoplasm and, via mechanisms that are linked to translation termination but not yet well understood, stimulates rapid destruction of mRNAs carrying a PTC (premature translation termination codon). However, some studies have indicated that in human cells UPF1 has additional roles, possibly unrelated to NMD, which are carried out in the nucleus. These might involve telomere maintenance, cell cycle progression and DNA replication. In the present paper, we review the available experimental evidence implicating UPF1 in nuclear functions. The unexpected view that emerges from this literature is that the nuclear functions primarily stem from UPF1 having an important role in DNA replication, rather than NMD affecting the expression of proteins involved in these processes. Our bioinformatics survey of the interaction network of UPF1 with other human proteins, however, highlights that UPF1 also interacts with proteins associated with nuclear RNA degradation and transcription termination; therefore suggesting involvement in processes that could also impinge on DNA replication indirectly.
Quantum dot–nucleic acid/aptamer bioconjugate-based fluorimetric biosensors
Authors: Zhou Dejian 
Published: July 2012

Over the last 10 years, fluorescent semiconductor QD (quantum dot)–biomolecule conjugates have emerged as a powerful new sensing platform showing great potential in a wide range of applications in biosensing, environmental monitoring and disease diagnosis. The present mini-review is a brief account of the recent developments in QD–NA (nucleic acid), particularly NA aptamer, conjugate-based biosensors using the FRET (Förster resonance energy transfer) readout mechanism. It starts with a brief introduction to the NA aptamer and QD-FRET, followed by example approaches to compact QD–DNA conjugates, target readout strategies and sensing performance, and concludes with challenges and outlook for the QD–NA/aptamer bioconjugate sensors.
The role of mammalian poly(A)-binding proteins in co-ordinating mRNA turnover
Authors: Brook Matthew , Gray Nicola K. 
Published: July 2012

The function of cytoplasmic PABPs [poly(A)-binding proteins] in promoting mRNA translation has been intensively studied. However, PABPs also have less clearly defined functions in mRNA turnover including roles in default deadenylation, a major rate-limiting step in mRNA decay, as well as roles in the regulation of mRNA turnover by cis-acting control elements and in the detection of aberrant mRNA transcripts. In the present paper, we review our current understanding of the complex roles of PABP1 in mRNA turnover, focusing on recent progress in mammals and highlighting some of the major questions that remain to be addressed.
Solid-state nanopores for biosensing with submolecular resolution
Authors: Bahrami Azadeh , Doğan Fatma , Japrung Deanpen , Albrecht Tim 
Published: July 2012

Biological cell membranes contain various types of ion channels and transmembrane pores in the 1–100 nm range, which are vital for cellular function. Individual channels can be probed electrically, as demonstrated by Neher and Sakmann in 1976 using the patch-clamp technique [Neher and Sakmann (1976) Nature 260, 799–802]. Since the 1990s, this work has inspired the use of protein or solid-state nanopores as inexpensive and ultrafast sensors for the detection of biomolecules, including DNA, RNA and proteins, but with particular focus on DNA sequencing. Solid-state nanopores in particular have the advantage that the pore size can be tailored to the analyte in question and that they can be modified using semi-conductor processing technology. This establishes solid-state nanopores as a new class of single-molecule biosensor devices, in some cases with submolecular resolution. In the present review, we discuss a few of the most important recent developments in this field and how they might be applied to studying protein–protein and protein–DNA interactions or in the context of ultra-fast DNA sequencing.
Combination therapy with relaxin and methylprednisolone augments the effects of either treatment alone in inhibiting subepithelial fibrosis in an experimental model of allergic airways disease
Authors: Royce Simon G. , Sedjahtera Amelia , Samuel Chrishan S. , Tang Mimi L. K. 
Published: July 2012

Although CSs (corticosteroids) demonstrate potent effects in the control of airway inflammation in asthma, many patients continue to experience symptoms and AHR (airway hyper-responsiveness) despite optimal treatment with these agents, probably due to progressive airway remodelling. Identifying novel therapies that can target airway remodelling and/or airway reactivity may improve symptom control in these patients. We have demonstrated previously that the anti-fibrotic hormone RLN (relaxin) can reverse airway remodelling (epithelial thickening and subepithelial fibrosis) and AHR in a murine model of AAD (allergic airways disease). In the present study, we compared the effects of RLN with a CS (methylprednisolone) on airway remodelling and AHR when administered independently or in combination in the mouse AAD model. Female mice at 6–8 weeks of age were sensitized and challenged to OVA (ovalbumin) over a 9-week period and treated with methylprednisolone, RLN, a combination of both treatments or vehicle controls. Methylprednisolone was administered intraperitoneally on the same day as nebulization for 6 weeks, whereas recombinant human RLN-2 was administered via subcutaneously implanted osmotic mini-pumps from weeks 9–11. RLN or methylprednisolone alone were both able to significantly decrease subepithelial thickness and total lung collagen deposition; whereas RLN but not methylprednisolone significantly decreased epithelial thickness and AHR. Additionally, combination therapy with CS and RLN more effectively reduced subepithelial collagen thickness than either therapy alone. These findings demonstrate that RLN can modulate a broader range of airway remodelling changes and AHR than methylprednisolone and the combination of both treatments offers enhanced control of subepithelial fibrosis.
Lipid Profiling of the Arabidopsis Hypersensitive Response Reveals Specific Lipid Peroxidation and Fragmentation Processes: Biogenesis of Pimelic and Azelaic Acid
Authors: Zoeller Maria , Stingl Nadja , Krischke Markus , Fekete Agnes , Waller Frank , Berger Susanne , Mueller Martin J. 
Published: July 2012

Abstract
Lipid peroxidation (LPO) is induced by a variety of abiotic and biotic stresses. Although LPO is involved in diverse signaling processes, little is known about the oxidation mechanisms and major lipid targets. A systematic lipidomics analysis of LPO in the interaction of Arabidopsis (Arabidopsis thaliana) with Pseudomonas syringae revealed that LPO is predominantly confined to plastid lipids comprising galactolipid and triacylglyceride species and precedes programmed cell death. Singlet oxygen was identified as the major cause of lipid oxidation under basal conditions, while a 13-lipoxygenase (LOX2) and free radical-catalyzed lipid oxidation substantially contribute to the increase upon pathogen infection. Analysis of lox2 mutants revealed that LOX2 is essential for enzymatic membrane peroxidation but not for the pathogen-induced free jasmonate production. Despite massive oxidative modification of plastid lipids, levels of nonoxidized lipids dramatically increased after infection. Pathogen infection also induced an accumulation of fragmented lipids. Analysis of mutants defective in 9-lipoxygenases and LOX2 showed that galactolipid fragmentation is independent of LOXs. We provide strong in vivo evidence for a free radical-catalyzed galactolipid fragmentation mechanism responsible for the formation of the essential biotin precursor pimelic acid as well as of azelaic acid, which was previously postulated to prime the immune response of Arabidopsis. Our results suggest that azelaic acid is a general marker for LPO rather than a general immune signal. The proposed fragmentation mechanism rationalizes the pathogen-induced radical amplification and formation of electrophile signals such as phytoprostanes, malondialdehyde, and hexenal in plastids.
Review article: overlap syndromes and autoimmune liver disease
Authors: Trivedi P. J. , Hirschfield G. M. 
Published: July 2012

SummaryBackgroundAutoimmune hepatitis (AIH), primary biliary cirrhosis (PBC) and primary sclerosing cholangitis (PSC) all nestle within the family of autoimmune liver diseases, whereby the result of immune‐mediated liver injury gives rise to varied clinical presentations. Some patients demonstrate a phenotype whereby there is evidence of either PBC or PSC together with overlapping features of AIH. Due to an absence of well‐validated diagnostic criteria and a lack of large therapeutic trials, treatment of overlap conditions is empiric and extrapolated from data derived from the primary autoimmune liver diseases.AimsTo review overlaps in the context of autoimmune liver diseases.MethodsGeneral and specific review of published articles using PubMed, Medline and Ovid search engines, alongside pre‐existing clinical management protocols, guidelines, and the authors' own knowledge of the published literature.ResultsThe challenges in diagnosis, clinical presentation, determining natural history and outcome of overlaps are presented, as well as present‐day management suggestions, some based on evidence, others on consensus and opinion.ConclusionsOverlapping autoimmune features, be they clinical, serological, histological or radiological are not infrequent, but appropriate diagnosis remains hindered by a lack of standardised diagnostic criteria. Optimum care for those with suspected overlap should thus focus on attention to detail over the fundamental aspects of timely secure diagnosis of the dominant disease entity. Clinicians should counsel patients carefully with regard to the risks and benefits of treatment, bearing in mind the paucity of randomised and controlled outcome data for medical interventions.
The pre‐emptive analgesic effect of a cyclooxygenase‐2 inhibitor in a rat model of acute postoperative pain
Authors: Chen J. J. , Hung K. C. , Lu K. , Yu S. W. , Chang C. C. , Liu C. C. , Spielberger J. , Ku P. Y. , Tan P. H. 
Published: July 2012

SummaryWe examined the pre‐emptive analgesic effect of a cyclooxygenase (COX)‐2 inhibitor in a rat surgical pain model and characterised the changes in cutaneous COX‐2 around a surgical site. Thermal hyperalgesia and mechanical allodynia were tested in the rats for three days after incision and skin tissues were collected for analysis of COX‐2. There was decreased expression of cutaneous COX‐2 one day after surgical incision. Pre‐incision injection of the COX‐2 inhibitor significantly inhibited expression of COX‐2 and also reduced thermal hyperalgesia (but not mechanical allodynia) compared with the post‐incision COX‐2‐inhibitor injection group, one day after incision.
Observational study on safety and tolerability of duloxetine in the treatment of female stress urinary incontinence in German routine practice
Authors: Michel Martin C. , Minarzyk Anette , Schwerdtner Inka , Quail Deborah , Methfessel Hans D. , Weber Hans‐Joachim 
Published: July 2012

AimsTo evaluate the safety and tolerability of duloxetine during routine clinical care in women with stress urinary incontinence (SUI) in Germany, and in particular, to identify previously unrecognized safety issues as uncommon adverse reactions, and the influence of confounding factors present in clinical practice on the safety profile of duloxetine.MethodsOffice‐based urologists, gynaecologists and primary care physicians were asked to document women newly started on treatment for moderate to severe symptoms of SUI. Six thousand eight hundred and fifty‐four patients from urologist/gynaecologist practices and 5879 primary care patients were assessed. In a two‐armed, observational study with parallel 12 week (urologists and gynaecologists) or 24 week (primary care physicians) design, patients were treated with duloxetine or other conservative treatment. The main outcome measure was the occurrence of adverse events (AEs).ResultsBaseline characteristics differed slightly between patient groups and studies. Duloxetine doses in most patients were lower than recommended. Overall, AE frequency with duloxetine was lower than in controlled studies (15.9% (95% CI 14.9, 16.9) and 9.1% (95% CI 8.2, 10.0) in the 12 and 24 week treatment groups, respectively), but exhibited a similar qualitative spectrum. In the logistic regression models, the following factors were associated with greater AE risk: investigator specialization (gynaecologist vs. urologist and primary care physician), initial duloxetine dose (80 vs. 20 mg day−1) and use of any concomitant medication. Within the 24 week study, a positive screen for depressive disorder was surprisingly common, but no case of attempted suicide was reported in either study.ConclusionsOur results from German clinical practice show that women with SUI were often treated with duloxetine doses lower than recommended. This was associated with a low incidence of AEs. Suicide attempts were not reported.
Treatment outcome of CRLF2‐rearranged childhood acute lymphoblastic leukaemia: a comparative analysis of the AIEOP‐BFM and UK NCRI‐CCLG study groups
Authors: Attarbaschi Andishe , Morak Maria , Cario Gunnar , Cazzaniga Giovanni , Ensor Hannah M. , te Kronnie Truus , Bradtke Jutta , Mann Georg , Vendramini Elena , Palmi Chiara , Schwab Claire , Russell Lisa J. , Schrappe Martin , Conter Valentino , Mitchell Christopher D. , Strehl Sabine , Zimmermann Martin , Pötschger Ulrike , Harrison Christine J. , Stanulla Martin , Panzer‐Grümayer Renate , Haas Oskar A. , Moorman Anthony V. ,   on behalf of the Associazione Italiana di Ematologia ed Oncologia Pediatrica (AIEOP)‐Berlin‐Frankfurt‐Münster (BFM) Study Group and National Cancer Research Institute (NCRI)‐Children's Cancer and Leukaemia (CCLG) Study Group
Published: July 2012

SummaryThe prognostic relevance of
CRLF2

‐rearrangements in childhood acute B‐cell precursor lymphoblastic leukaemia (ALL), was assessed by a comparative analysis of 114 non‐Down‐syndrome patients (99
P2RY8‐CRLF2+
, 15
IGH@‐CRLF2+
), 76 from the AIEOP‐BFM ALL 2000 and 38 from the MRC ALL97 trials. The 6‐year cumulative relapse incidence of
P2RY8‐CRLF2+
patients treated on the two trials was not statistically different: 0·37 ± 0·06 vs. 0·25 ± 0·08 (P = 0·194). In contrast, 0/9
IGH@‐CRLF2+ AIEOP‐BFM, but 5/6 ALL97 patients relapsed. Conclusively,
P2RY8‐CRLF2+
patients had an intermediate protocol‐independent outcome while the different prognosis of
IGH@‐CRLF2+ patients could be related to the different structures of the applied treatment protocols.
Normal ageing is associated with an increase in Th2 cells, MCP-1 (CCL1) and RANTES (CCL5), with differences in sCD40L and PDGF-AA between sexes
Authors: Mansfield A S , Nevala W K , Dronca R S , Leontovich A A , Shuster L , Markovic S N 
Published: July 2012

SummaryWe have observed T helper type 2 (Th2) polarization of systemic immunity in patients with metastatic malignant melanoma. We hypothesized that similar changes in systemic immunity occur with ageing and may be permissive for the development of melanoma. We analysed the peripheral blood of 389 healthy blood donors. All subjects were profiled for peripheral blood T cell and B cell subsets, and 58 of these subjects were profiled for antigen-specific cytotoxic T cell subsets [cytomegalovirus (CMV), influenza and melanoma antigen recognized by T cells 1 (MART-1)]. Ninety-five separate healthy subjects underwent profiling of 42 plasma cytokines. Ageing was associated positively with CD4+CD294+ Th2 cells, and associated negatively with CD3+ T cells, cytotoxic T cells and T helper cells. Ageing was also associated negatively with CMV-, influenza- and MART-1-specific naive and CD8+ T cells. There were significant increases in plasma monocyte chemotactic protein 1 (MCP-1) (CCL1) and regulated upon activation normal T cell expressed and secreted (RANTES) (CCL5) with age. We observed differences in cytokine profiles between males and females; specifically, women had higher levels of sCD40L and PDGF-AA. In summary, we demonstrated in healthy blood donors that ageing was associated with an increase in cellular Th2 bias and a decline in total numbers of T cells. Additionally, there was an increase in MCP-1 and RANTES with ageing. Women had higher levels of sCD40L and PDGF-AA than men.
Dysregulated immunophenotypic attributes of plasmacytoid but not myeloid dendritic cells in HIV-1 infected individuals in the absence of highly active anti-retroviral therapy
Authors: Benlahrech A , Yasmin A , Westrop S J , Coleman A , Herasimtschuk A , Page E , Kelleher P , Gotch F , Imami N , Patterson S 
Published: July 2012

SummaryDendritic cells (DC) in HIV-1-infected individuals are decreased and their dysfunction has been implicated in HIV-1 immunopathogenesis. The mechanism of their dysfunction remains unclear, thus we analysed the expression of membrane molecules associated with immune regulation and DC activation in myeloid (mDC) and plasmacytoid DC (pDC) in therapy-naive and highly active anti-retroviral therapy (HAART)-treated HIV-1+ patients. DC from healthy controls, untreated HIV-1+ and HAART-treated patients were assessed by flow cytometry for expression of: anergy and apoptosis inducing molecules [programmed death (PD)-1 and its ligands PD-L1 and PD-L2], inhibitory and regulatory T cell-inducing molecules [immunoglobulin-like transcript (ILT)-3 and ILT-4], interferon (IFN)-α inhibitory receptor (ILT-7) and co-stimulatory molecules (CD80, CD83, and CD86). pDC from untreated HIV-1+ patients expressed significantly lower levels of ILT-7 compared to healthy controls, while HAART-treated patients showed normal expression. pDC were also found to express moderately higher levels of PD-L1 and ILT-3 and lower levels of PD-L2 receptors in untreated patients compared to controls and HAART-treated patients. No significant changes were observed in mDC. There were no associations between the percentages and levels of expression of these molecules by pDC and viral load or CD4 T cell count. In conclusion, pDC but not mDC from HIV-1+ patients with active viraemia display higher levels of apoptosis and T regulatory-inducing molecules and may be predisposed to chronically produce IFN-α through down-regulation of ILT-7. HAART restored normal expression levels of these receptors.