bluuebunny/crossref_metadata_2025_split huggingface dataset:
The phenotype and clinical course of Japanese Fanconi Anaemia infants is influenced by patient, but not maternal ALDH2 genotype
Authors: Yabe Miharu , Yabe Hiromasa , Morimoto Tsuyoshi , Fukumura Akiko , Ohtsubo Keisuke , Koike Takashi , Yoshida Kenichi , Ogawa Seishi , Ito Etsuro , Okuno Yusuke , Muramatsu Hideki , Kojima Seiji , Matsuo Keitaro , Hira Asuka , Takata Minoru 
Published: July 2016

SummaryStudies using Fanconi anaemia (FA) mutant mouse models suggested that the combination of a defective FA pathway and aldehyde dehydrogenase‐2 (ALDH2) dysfunction could provoke bone marrow failure, leukaemia and developmental defects, and that both maternal and fetal aldehyde detoxification are crucial to protect the developing embryo from DNA damage. We studied the ALDH2 genotypes of 35 Japanese FA patients and their mothers. We found that a normal maternal ALDH2 allele was not essential for fetal development of ALDH2‐deficient patients, and none of the post‐natal clinical parameters were clearly affected by the maternal ALDH2 genotype in these patients.
Risk factors predicting outcomes for primary refractory hodgkin lymphoma patients treated with salvage chemotherapy and autologous stem cell transplantation
Authors: Shah Gunjan L. , Yahalom Joachim , Matasar Matthew J. , Verwys Stephanie L. , Goldman Debra A. , Bantilan Kurt S. , Zhang Zhigang , McCall Susan J. , Moskowitz Alison J. , Moskowitz Craig H. 
Published: July 2016

SummaryWe aimed to identify risk factors that predict functional imaging (FI) response to salvage chemotherapy and evaluate outcomes following autologous stem cell transplant (ASCT) in primary refractory Hodgkin Lymphoma (HL). From 1 October 1994 to 10 July 2015, 192 primary refractory HL patients were treated on sequential second line protocols. Event‐free survival (EFS) and overall survival (OS) were calculated from the date of histological confirmation of refractory disease. Covariates were analysed for relationship with FI response and EFS. By intent‐to‐treat, the median EFS was 8·9 years and OS 10·4 years with 41% having positive post‐salvage FI. On multivariate analysis, the presence of B symptoms and bulk ≥5 cm predicted for positive FI, with odds ratios of 2·15 and 2·03, respectively. For the 167 (87%) transplanted patients, 60% had a negative pre‐ASCT FI. Median EFS and OS were not reached with at a median follow‐up of 3·6 years in surviving patients. Both stage IV refractory disease and persistent FI abnormality pre‐ ASCT were associated with worse outcomes: 3‐year EFS was 84%, 54% and 28% for zero, 1 and 2 risk factors, respectively (P < 0·001). Further studies are needed to validate our prognostic model and to determine optimal therapy for patients with multiple risk factors.
On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3
Authors: Seidel Kay , Siswanto Sonny , Fredrich Michaela , Bouzrou Mohamed , den Dunnen Wilfred F.A. , Özerden Inci , Korf Horst‐Werner , Melegh Bela , de Vries Jeroen J. , Brunt Ewout R. , Auburger Georg , Rüb Udo 
Published: July 2016

AbstractThe polyglutamine (polyQ) diseases are a group of genetically and clinically heterogeneous neurodegenerative diseases, characterized by the expansion of polyQ sequences in unrelated disease proteins, which form different types of neuronal aggregates. The aim of this study was to characterize the aggregation pathology in the brainstem of spinocerebellar ataxia type 2 (SCA2) and 3 (SCA3) patients. For good recognition of neurodegeneration and rare aggregates, we employed 100 µm PEG embedded brainstem sections, which were immunostained with the 1C2 antibody, targeted at polyQ expansions, or with an antibody against p62, a reliable marker of protein aggregates. Brainstem areas were scored semiquantitatively for neurodegeneration, severity of granular cytoplasmic staining (GCS) and frequency of neuronal nuclear inclusions (NNI). SCA2 and SCA3 tissue exhibited the same aggregate types and similar staining patterns. Several brainstem areas showed statistically significant differences between disease groups, whereby SCA2 showed more severe GCS and SCA3 showed more numerous NNI. We observed a positive correlation between GCS severity and neurodegeneration in SCA2 and SCA3 and an inverse correlation between the frequency of NNI and neurodegeneration in SCA3. Although their respective disease proteins are unrelated, SCA2 and SCA3 showed the same aggregate types. Apparently, the polyQ sequence alone is sufficient as a driver of protein aggregation. This is then modified by protein context and intrinsic properties of neuronal populations. The severity of GCS was the best predictor of neurodegeneration in both disorders, while the inverse correlation of neurodegeneration and NNI in SCA3 tissue implies a protective role of these aggregates.
Lateral approach for sinus floor elevation: large versus small bone window – a split‐mouth randomized clinical trial
Authors: Baldini Nicola , D'Elia Chiara , Bianco Andrea , Goracci Cecilia , de Sanctis Massimo , Ferrari Marco 
Published: July 2016

AbstractObjectivesTo test whether a reduction of bone window dimension, in a split‐mouth randomized study design, focused on lateral sinus floor elevations, can achieve better results than a wider window in terms of augmented bone height and a reduction of patient discomfort and surgical complications.Materials and methodsOf the sixteen subjects enrolled in the study, each underwent a bilateral sinus lift procedure based on two different access flaps to maxillary sinus. Test side: small access window (6 × 6 mm) + bone filling using a special device. Control side: large access window (10 × 8 mm) + manual bone filling. Alveolar bone height and width were measured at pre‐op and 6‐month post‐op CT scans; repeatable measurements were obtained using radiographic stents. Surgical intervention duration was also recorded. Patients’ evaluation of surgical discomfort was assessed using a VAS diagram at 7‐day, 14‐day and 30‐day follow‐up.ResultsA significant bone augmentation in height and width of alveolar crest was obtained in both test (8.71 ± 1.11 mm, 4.70 ± 0.58 mm) and control (8.5 ± 2.02 mm, 4.68 ± 0.70 mm) sides, although no significant differences were found between the two groups. Neither any significant differences emerge in data concerning the duration of the intervention (Test 42.62 ± 6.67 min, Control 41.68 ± 8.34 min). Patients’ opinion relating to surgical discomfort showed a preference for test procedure at 7‐day, 14‐day and 30‐day follow‐up.ConclusionsA reduction of window dimensions did not affect the safety of the surgical procedure. The two testing techniques showed no statistically significant differences in surgical intervention duration. Patients’ opinion at 7‐day and 14‐day post‐op showed a preference for test procedure.
Bursaphelenchus tusciae in Tunisia associated with Hylurgus ligniperda
Authors: Mejri M. , Fonseca L. , Cardoso J. M. S. , Ben Jamâa M. L. , Abrantes I. 
Published: July 2016

SummaryBursaphelenchus tusciae is reported for the first time in Tunisia and North Africa, associated with the insect Hylurgus ligniperda Fabricius (Coleoptera: Curculionidae: Scolytinae). Nematode identification was based on restriction fragment length polymorphism analysis and sequencing of the internal transcribed spacer (ITS) regions of ribosomal DNA. Phylogenetic analysis revealed that Tunisian B. tusciae clusters together with two other B. tusciae isolates forming a separate group close to B. hildegardae and B. eggersi. As H. ligniperda is among maritime pine scolytids pests in Tunisia and is widely distributed in North Africa, this study is an important contribution to the knowledge of Bursaphelenchus species associated with bark beetles of pine forests in Tunisia and North Africa.
Vegetation change and conservation status of Coastal Upland Swamps
Authors: Mason Tanya J. , Keith David A. 
Published: July 2016

SummaryCoastal Upland Swamp communities are characterized by high biodiversity and provide habitat for a range of threatened flora and fauna. In this research project, we are monitoring swamp vegetation dynamics over decadal timescales and relating observed changes to environmental factors. We have also modelled potential effects of climate change on swamp distributions. We found that swamp communities are spatially dynamic, both internally and in relation to the woodland matrix. Transitions between communities depended on initial states. In addition, these water‐dependent communities appeared highly sensitive to projected climate change and their ‘Endangered’ status makes their active management a high priority. Improved understanding of dynamics at the community and landscape scale facilitates horizon scanning and improves our capacity to plan effective management interventions now and under future management and climate change scenarios.
Availability of short microsatellite markers from butterfly museums and private specimens
Authors: Nakahama Naoyuki , Isagi Yuji 
Published: July 2016

AbstractKnowledge of the temporal changes in genetic diversity and structure is important for identifying factors causing a decline in threatened insect species, and for establishing conservation programs for these species. Thus, there is recently an increasing interest in the restoration of genetic diversity in conservation programs using DNA data from historical museum specimens. For butterfly specimens, we measured the yields and fragment sizes of the extracted DNA and investigated the genotyping success probability of nine short microsatellite markers (allele size 73–191 bp). We used leg samples of specimens of a medium‐sized butterfly species, Melitaea ambigua (Lepidoptera; Nymphalidae), collected from the 1960s to the 2010s. The yields of specimen‐extracted DNA longer than 150 bp decreased with increasing specimen age. There were negative correlations between the genotyping success probability and specimen age for each of all microsatellite markers. A negative correlation was also observed between the genotyping success probability and allele size of each microsatellite marker. We conclude that short microsatellite markers and analysis of recently obtained specimens are particularly suitable for microsatellite analysis of butterfly specimens.
Anticonvulsant effect of a ghrelin receptor agonist in 6Hz corneally kindled mice
Authors: Coppens Jessica , Aourz Najat , Walrave Laura , Fehrentz Jean‐Alain , Martinez Jean , De Bundel Dimitri , Portelli Jeanelle , Smolders Ilse 
Published: July 2016

SummaryGhrelin has anticonvulsant and neuroprotective effects in models of chemoconvulsant‐induced seizures and status epilepticus. In this study we investigated whether deletion of the ghrelin receptor could alter the kindling process in the 6 Hz corneal kindling model and whether ghrelin receptor ligands possess anticonvulsant effects in fully kindled mice. Ghrelin receptor wild‐type and knockout mice were electrically stimulated at a subconvulsive current twice daily via corneal electrodes until they reached the fully kindled state. Mice lacking the ghrelin receptor showed similar seizure severity during kindling acquisition as well as in the maintenance phase when compared to their wild‐type littermates. Subsequently we proceeded by investigating possible anticonvulsant effects of the ghrelin receptor ligands in the acute 6 Hz seizure model and the fully 6 Hz kindled mice. The ghrelin receptor agonist JMV‐1843 decreased the seizure severity score both in acutely 6 Hz stimulated mice and in fully kindled ghrelin receptor wild‐type mice, but not in fully kindled ghrelin receptor knockout mice. No effect on seizure severity was observed following the ghrelin receptor antagonist JMV‐2959 in both models. This finding indicates that JMV‐1843 exerts an anticonvulsant effect in kindled mice via the ghrelin receptor.
Compound‐Specific Isotope Analyses to Assess TCE Biodegradation in a Fractured Dolomitic Aquifer
Authors: Clark Justin A. , Stotler Randy L. , Frape Shaun K. , Illman Walter A. 
Published: July 2016

AbstractThe potential for trichloroethene (TCE) biodegradation in a fractured dolomite aquifer at a former chemical disposal site in Smithville, Ontario, Canada, is assessed using chemical analysis and TCE and cis‐DCE compound‐specific isotope analysis of carbon and chlorine collected over a 16‐month period. Groundwater redox conditions change from suboxic to much more reducing environments within and around the plume, indicating that oxidation of organic contaminants and degradation products is occurring at the study site. TCE and cis‐DCE were observed in 13 of 14 wells sampled. VC, ethene, and/or ethane were also observed in ten wells, indicating that partial/full dechlorination has occurred. Chlorine isotopic values (δ37Cl) range between 1.39 to 4.69‰ SMOC for TCE, and 3.57 to 13.86‰ SMOC for cis‐DCE. Carbon isotopic values range between −28.9 and −20.7‰ VPDB for TCE, and −26.5 and −11.8‰ VPDB for cis‐DCE. In most wells, isotopic values remained steady over the 15‐month study. Isotopic enrichment from TCE to cis‐DCE varied between 0 and 13‰ for carbon and 1 and 4‰ for chlorine. Calculated chlorine‐carbon isotopic enrichment ratios (ϵCl/ϵC) were 0.18 for TCE and 0.69 for cis‐DCE. Combined, isotopic and chemical data indicate very little dechlorination is occurring near the source zone, but suggest bacterially mediated degradation is occurring closer to the edges of the plume.
Chitotriosidase as a novel biomarker of early atherosclerosis in hemodialysis patients
Authors: Güçlü Aydın , Yilmaz Mahmut Ilker , Tokmak Turgut Tursem , Unal Hilmi Umut , Karaman Murat , Gezer Mustafa , Taş Ahmet , Aydin İbrahim , Akçılar Raziye , Dursun Yusuf 
Published: July 2016

AbstractIntroduction: Increasing evidence suggests that inflammation and increased macrophage activity have a central role in pathogenesis of atherosclerosis. It is shown that chitotriosidase (CHIT‐1) is a marker of macrophage activity in atherosclerotic plaque, and is found associated with severity of atherosclerotic lesion. There is no data about CHIT‐1 activity of hemodialysis patients in the literature. Thus, we hypothesized that in hemodialysis patients, CHIT‐1 levels might be a novel biomarker in early atherosclerosis. Methods: Forty‐five hemodialysis patients were included in the study (age: 61.93 ± 13.34). Intima media thickness (IMT) was evaluated with high‐resolution B‐mode ultrasonography. Biomarker levels were measured in serum of patients. Findings: We found positive correlation among IMT, age (R: 0.426, P: 0.004) and, CHIT‐1 value (R: 0.462, P: 0.001) in spearman correlation analysis. When age, CRP, creatinine, P, Alb, CHIT‐1 were chosen as measures that can effect IMT in multiple regression model, IMT level was related with CHIT‐1 (Beta: 0,396, P: 0.012) and age (Beta: 0,313 P: 0,048) independently. Discussion: In conclusion, this is the first report showing that serum CHIT‐1 level was related independently with carotid IMT in hemodialysis patients. This biomarker might have an unknown role in the development of atherosclerosis during uremia.
Planimetry of the porta hepatis in biliary atresia
Authors: Shalaby Aly , Hajhosseiny Reza , Zen Yoh , Davenport Mark , Quaglia Alberto 
Published: July 2016

AimsOrientation and digital analysis of the biliary remnants in the resected porta hepatis in infants with biliary atresia.Methods and resultsSamples were orientated intra‐operatively then stained with haematoxylin and eosin and immunostained for cytokeratin 7 (CK7). Sections were then digitized and analysed. Most proximal transected surface area was defined as the porta hepatis area (PHA) and the biliary epithelial area was defined as ‘BEA’. Data are quoted as median (range). Non‐parametric statistical comparisons were made as appropriate. P < 0.05 was regarded as significant. Thirty‐eight infants underwent surgery [median age 53 (16–120) days]. Eight specimens were excluded from the study due to technical reasons, leaving 30 specimens as the study cohort. Median PHA was 70 (30–133) mm2, median BEA 0.57 (0.07–5.5) mm2 (r = 0.51; P < 0.002). The median BEA/PHA ratio was 9.6 × 10−3 (1.9–104 × 10−3). There was a marked correlation of PHA with plasma γ‐glutamyl transpeptidase (r = −0.51; P = 0.001). Both total BEA and the BEA/PHA ratio correlated with alkaline phosphatase (r = −0.35; P = 0.03 and r = −0.47; P = 0.005, respectively). Age at surgery correlated inversely with BEA (r = −0.44; P = 0.01) but not PHA (P = 0.1).ConclusionsPrecise quantification of biliary remnants is possible and correlates with biochemical variables. Values for BEA were associated with and declined demonstrably with increasing age at surgery.
Steatotic hepatocellular carcinoma: a variant associated with metabolic factors and late tumour relapse
Authors: Chan Anthony W H , Yu Shuangni , Yu Yau‐Hei , Tong Joanna H M , Wang Lei , Tin Edith K Y , Chong Charing C N , Chan Stephen L , Wong Grace L H , Wong Vincent W S , Chan Henry L Y , Lai Paul B S , To Ka‐Fai 
Published: July 2016

AimsSteatosis in hepatocellular carcinoma (HCC) has been recognized for decades and found most commonly in small, well‐differentiated HCC. However, the clinicopathological features and pathogenesis of HCC with steatosis is not well characterized. There are few data concerning whether HCC with steatosis should be regarded a distinct histological variant, steatotic HCC.Methods and resultsA retrospective cohort of 516 patients undergoing curative surgery for primary HCC was recruited. The median follow‐up was 45.5 (range: 0.2–166.0) months. Steatotic HCC was defined as HCC with significant steatosis (≥5% of tumour cells). Associations with immunohistochemical expression of fatty acid binding protein‐1 (FABP1), sonic hedgehog (SHH) and gene polymorphism of patatin‐like phospholipase 3 (PNPLA3) were analysed. Steatotic HCC was found in 21.1% of patients and was associated with higher metabolic risks [diabetes mellitus (36.7% versus 18.2%) and hypertension (44.0% versus 28.7%)], underlying fatty liver (60.6% versus 37.8%), steatohepatitis (30.3% versus 13.0%), smaller tumour size, lower frequency of major vessel (1.8% versus 11.3%) and microvascular invasion (20.2% versus 32.4%), earlier tumour stages and lower serum alpha‐fetoprotein. It was associated with developing late tumour relapse (hazard ratio 2.15, P = 0.002) independently of underlying cirrhosis and non‐anatomical excision. Steatotic HCC did not differ from HCC without significant steatosis in immunohistochemical expression of FABP1 and SHH and PNPLA3 gene polymorphism.ConclusionSteatotic HCC is a common histological variant of HCC with distinct association with underlying fatty liver, steatohepatitis and metabolic risks. Despite more favourable baseline tumour features, it was associated with late tumour relapse.
Intravascular (blood vessel) histiocytosis with haemophagocytosis
Authors: Fernández‐Figueras M Teresa , Martín‐Urdà M Teresa , Plana Adrià , Servitje Octavi , Penin Rosa M , Tapia Gustavo , Mate José L , Ariza Aurelio 
Published: July 2016

AimsMany types of intravascular lymphohistiocytic proliferation have been described recently; this was previously an unnoticed or misinterpreted phenomenon. Intralymphatic lymphohistiocytic aggregates are relatively common, and include benign, malignant and indeterminate conditions. In contrast, all non‐endothelial proliferations in the lumina of blood vessels have been interpreted so far as malignant. Herein, we present three cases of histiocytic proliferations in the lumen of blood vessels associated with intracytoplasmic granulocyte debris (haemophagocytosis), a previously undescribed entity.Methods and resultsWe identified three patients from two institutions with similar cutaneous lesions, both clinically and microscopically. Information regarding clinical history, histological features and immunoprofiles were obtained. The three cases presented intravascular histiocytosis with haemophagocytosis involving blood vessels of the dermis, a process that may be representative of a new entity. The patients were two women and one man who presented a symmetrical reticulated erythema with a tendency to involve the skin of the breasts. The lesions were indolent, did not ulcerate and followed a benign course.ConclusionThis seemingly novel condition is characterized by the presence of histiocytic cells inside blood vessels, where they have not been described previously as an entity. The most reasonable explanation for this process is an origin from the non‐classical subset of monocytes that ‘patrol’ the inner face of blood vessels acting as macrophages. The existence of this entity should be kept in mind to avoid overdiagnosis of malignancy.
New approaches in tail‐bleeding assay in mice: improving an important method for designing new anti‐thrombotic agents
Authors: Saito Max Seidy , Lourenço André Luiz , Kang Hye Chung , Rodrigues Carlos Rangel , Cabral Lucio Mendes , Castro Helena Carla , Satlher Plínio Cunha 
Published: July 2016

SummaryThis report describes a modified, simple, low‐cost and more sensitive method to determine bleeding patterns and haemoglobin concentration in a tail‐bleeding assay using BALB/c mice and tail tip amputation. The cut tail was immersed in Drabkin's reagent to promote erythrocyte lysis and haemoglobin release, which was monitored over 30 min. The operator was blinded to individual conditions of the mice, which were treated with either saline (NaCl 0.15m), DMSO (0.5%) or clinical anti‐thrombotic drugs. Our experimental protocols showed good reproducibility and repeatability of results when using Drabkin's reagent than water. Thus, the use of Drabkin's reagent offered a simple and low‐cost method to observe and quantify the bleeding and rebleeding episodes. We also observed the bleeding pattern and total haemoglobin loss using untreated animals or those under anti‐coagulant therapy in order to validate the new Drabkin method and thus confirm that it is a useful protocol to quantify haemoglobin concentrations in tail‐bleeding assay. This modified method provided a more accurate results for bleeding patterns in mice and for identifying new anti‐thrombotic drugs.
Grief and loss in older people residing in nursing homes: (un)detected by nurses and care‐assistants?
Authors: Van Humbeeck Liesbeth , Dillen Let , Piers Ruth , Van Den Noortgate Nele 
Published: July 2016

AbstractAimThe aim of this study was to explore how nurses and care‐assistants (nursing staff) working in six Flemish nursing homes experience and describe their involvement in grief care.BackgroundAlthough grief in older people is widely described in literature, less is known about how nursing staff in nursing homes offer and perceive grief care.DesignA qualitative research design with elements of constructivist grounded theory was used.MethodsLoosely structured face‐to‐face interviews were done with fourteen nurses and care‐assistants. Data were collected from October 2013–March 2014. Interview transcripts were analysed using the Qualitative Analysis Guide of Leuven (QUAGOL) method with support of NVivo 10.FindingsGrief care in nursing homes is characterized by a complex tension between two care dimensions: (1) being involved while keeping an appropriate distance; and (2) being while doing. Nursing staff described key enablers and influencing factors for grief care at the level of both the individual and the organizational context.ConclusionFindings suggest an established personal sensitivity for grief care considered from the nursing staff points of view. Nevertheless, a common denominator was the necessity to further develop a supportive and multidisciplinary grief care policy ingrained in the existing care culture. Suggested components of this grief care policy are: (a) centring attention on non‐death‐related loss and the cumulative nature of loss in residents; (b) building capacity by means of reflective practices; and (c) the importance of self‐care strategies for nursing staff. Furthermore, the findings from this study point towards a need for education and training.