bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genome-wide association study of bipolar disorder in Canadian and UK populations corroborates disease loci including SYNE1 and CSMD1
Authors: Xu Wei , Cohen-Woods Sarah , Chen Qian , Noor Abdul , Knight Jo , Hosang Georgina , Parikh Sagar V , De Luca Vincenzo , Tozzi Federica , Muglia Pierandrea , Forte Julia , McQuillin Andrew , Hu Pingzhao , Gurling Hugh MD , Kennedy James L , McGuffin Peter , Farmer Anne , Strauss John , Vincent John B 
Published: January 2014

AbstractBackgroundRecently, genome-wide association studies (GWAS) for cases versus controls using single nucleotide polymorphism microarray data have shown promising findings for complex neuropsychiatric disorders, including bipolar disorder (BD).MethodsHere we describe a comprehensive genome-wide study of bipolar disorder (BD), cross-referencing analysis from a family-based study of 229 small families with association analysis from over 950 cases and 950 ethnicity-matched controls from the UK and Canada. Further, loci identified in these analyses were supported by pathways identified through pathway analysis on the samples.ResultsAlthough no genome-wide significant markers were identified, the combined GWAS findings have pointed to several genes of interest that support GWAS findings for BD from other groups or consortia, such as atSYNE1on 6q25,PPP2R2Con 4p16.1,ZNF659on 3p24.3,CNTNAP5(2q14.3), andCDH13(16q23.3). This apparent corroboration across multiple sites gives much confidence to the likelihood of genetic involvement in BD at these loci. In particular, our two-stage strategy found association in both our combined case/control analysis and the family-based analysis on 1q21.2 (closest gene: sphingosine-1-phosphate receptor 1 gene,S1PR1) and on 1q24.1 near the geneTMCO1, and atCSMD1on 8p23.2, supporting several previous GWAS reports for BD and for schizophrenia. Pathway analysis suggests association of pathways involved in calcium signalling, neuropathic pain signalling, CREB signalling in neurons, glutamate receptor signalling and axonal guidance signalling.ConclusionsThe findings presented here show support for a number of genes previously implicated genes in the etiology of BD, includingCSMD1andSYNE1, as well as evidence for previously unreported genes such as the brain-expressed genesADCY2,NCALD,WDR60,SCN7AandSPAG16.
Modulation of Ras signaling alters the toxicity of hydroquinone, a benzene metabolite and component of cigarette smoke
Authors: North Matthew , Shuga Joe , Fromowitz Michele , Loguinov Alexandre , Shannon Kevin , Zhang Luoping , Smith Martyn T , Vulpe Chris D 
Published: January 2014

Abstract

Background
Benzene is an established human leukemogen, with a ubiquitous environmental presence leading to significant population exposure. In a genome-wide functional screen in the yeast Saccharomyces cerevisiae, inactivation of IRA2, a yeast ortholog of the human tumor suppressor gene NF1 (Neurofibromin), enhanced sensitivity to hydroquinone, an important benzene metabolite. Increased Ras signaling is implicated as a causal factor in the increased pre-disposition to leukemia of individuals with mutations in NF1.

Methods
Growth inhibition of yeast by hydroquinone was assessed in mutant strains exhibiting varying levels of Ras activity. Subsequently, effects of hydroquinone on both genotoxicity (measured by micronucleus formation) and proliferation of WT and Nf1 null murine hematopoietic precursors were assessed.

Results
Here we show that the Ras status of both yeast and mammalian cells modulates hydroquinone toxicity, indicating potential synergy between Ras signaling and benzene toxicity. Specifically, enhanced Ras signaling increases both hydroquinone-mediated growth inhibition in yeast and genotoxicity in mammalian hematopoetic precursors as measured by an in vitro erythroid micronucleus assay. Hydroquinone also increases proliferation of CFU-GM progenitor cells in mice with Nf1 null bone marrow relative to WT, the same cell type associated with benzene-associated leukemia.

Conclusions
Together our findings show that hydroquinone toxicity is modulated by Ras signaling. Individuals with abnormal Ras signaling could be more vulnerable to developing myeloid diseases after exposure to benzene. We note that hydroquinone is used cosmetically as a skin-bleaching agent, including by individuals with cafe-au-lait spots (which may be present in individuals with neurofibromatosis who have a mutation in NF1), which could be unadvisable given our findings.
Pancreatic solitary and synchronous metastasis from breast cancer: a case report and systematic review of controversies in diagnosis and treatment
Authors: Molino Carlo , Mocerino Carmela , Braucci Antonio , Riccardi Ferdinando , Trunfio Martino , Carrillo Giovanna , Vitale Maria Giuseppa , Cartenì Giacomo , De Sena Guido 
Published: January 2014

Abstract

Background
Metastases from breast cancer cause the frequent involvement of lung, bone, liver, and brain, while the occurrence of metastases to the gastrointestinal tract is rare, and more frequently discovered after a primary diagnosis of breast cancer. Solitary pancreatic metastases from breast cancer, without widespread disease, are actually unusual, and only 19 cases have been previously described; truly exceptional is a solitary pancreatic metastasis becoming evident together with the primary breast cancer.

Case presentation
A 68-year-old woman reported general fatigue, lethargy, and jaundice. Abdominal ultrasound (US) and magnetic resonance imaging (MRI) showed an ampulloma of Vater’s papilla; moreover, a neoplastic nodule in the left breast was diagnosed. She underwent surgery for both breast cancer and ampulloma of Vater’s papilla. Pathological examination of pancreatic specimen, however, did not confirm primary carcinoma of the duodenal papilla, but showed a metastatic involvement of pancreas from lobular breast cancer. Immunohistochemistry has been essential to confirm the origin of the malignancy: hormone receptors and mammaglobin were expressed in both the primary breast tumor and the pancreatic metastasis.

Conclusions
This is one of the few reported cases in literature of an isolated and synchronous pancreatic metastasis from breast cancer, where the definitive diagnosis was obtained only after surgery. We discuss the controversies in this diagnosis and the choice of correct treatment. The surgical resection of solitary metastases can be performed in the absence of disseminated disease.
Lead-free LiNbO3 nanowire-based nanocomposite for piezoelectric power generation
Authors: Yun Byung Kil , Park Yong Keun , Lee Minbaek , Lee Nuri , Jo William , Lee Seongsu , Jung Jong Hoon 
Published: January 2014

Abstract
In a flexible nanocomposite-based nanogenerator, in which piezoelectric nanostructures are mixed with polymers, important parameters to increase the output power include using long nanowires with high piezoelectricity and decreasing the dielectric constant of the nanocomposite. Here, we report on piezoelectric power generation from a lead-free LiNbO3 nanowire-based nanocomposite. Through ion exchange of ultra-long Na2Nb2O6-H2O nanowires, we synthesized long (approximately 50 μm in length) single-crystalline LiNbO3 nanowires having a high piezoelectric coefficient (d
33 approximately 25 pmV-1). By blending LiNbO3 nanowires with poly(dimethylsiloxane) (PDMS) polymer (volume ratio 1:100), we fabricated a flexible nanocomposite nanogenerator having a low dielectric constant (approximately 2.7). The nanogenerator generated stable electric power, even under excessive strain conditions (approximately 105 cycles). The different piezoelectric coefficients of d
33 and d
31 for LiNbO3 may have resulted in generated voltage and current for the e
33 geometry that were 20 and 100 times larger than those for the e
31 geometry, respectively. This study suggests the importance of the blending ratio and strain geometry for higher output-power generation in a piezoelectric nanocomposite-based nanogenerator.

PACS

77.65.-j; 77.84.-s; 73.21.Hb
Quantization and diagnosis of Shanghuo (Heatiness) in Chinese medicine using a diagnostic scoring scheme and salivary biochemical parameters
Authors: Liu Sijun , Huang Zhaosheng , Wu Qingguang , Huang Zhangjie , Wu Lirong , Yan Wenli , Chang David Lungpao , Yang Zheng , Wang Zongwei 
Published: January 2014

Abstract

Background
This study aims to establish a diagnostic scoring scheme for Shanghuo (Heatiness) and to evaluate whether Shanghuo is associated with biochemical parameters of salivary lysozyme (LYZ), salivary secreted immunoglobulin (S-IgA), salivary amylase (AMS), and saliva flow rate (SFR).

Methods
We collected 121 Shanghuo patients at the Affiliated Hospitals of Guangzhou University of Traditional Chinese Medicine in Guangdong Province, 60 cases as a Shanghuo recovered group, and 60 healthy cases as a healthy control group. The diagnostic scoring scheme was established by probability theory and maximum likelihood discriminatory analysis on the basis of epidemiology with the design of self-controlled clinical trial. Subsequently, we used the same methods to collect 120 Shanghuo patients, 60 Shanghuo recovered cases, and 60 healthy cases in both Hunan Province and Henan Province. The levels of LYZ, S-IgA, AMS, and SFR were tested when the patients suffered from Shanghuo or recovered, respectively.

Results
The diagnostic score table for Shanghuo syndrome was established first. In the retrospective tests, the sensitivity, specificity, accuracy, and positive likelihood ratio of the diagnostic score table were 98.9%, 93.5%, 97.5%, and 14.34%, respectively. In the prospective tests, the corresponding values were 94.9%, 85.7%, 91.7%, and 6.64%, respectively. Shanghuo was classified into three degrees based on the diagnostic scores, common Shanghuo: 63–120; serious Shanghuo: 121–150; very serious Shanghuo: >150. A negative correlation was found between Shanghuo and S-IgA (R = -0.428; P = 0.000). The level of S-IgA was also affected by seasonal and regional factors. No significant correlations were found between Shanghuo and the levels of LYZ, AMS, and SFR.

Conclusions
In this study, Shanghuo could be diagnosed by the combination of the diagnostic score table and S-lgA level.
A young man with myelosuppression caused by clindamycin: a case report
Authors: Morales Manuel Polanco , Carvallo Anna Paola Thome , Espinosa Karla Adriana Bautista , Murillo Edgar Enrique Meza 
Published: January 2014

Abstract

Introduction
Clindamycin is used to treat various bacterial infections, but its administration can cause anaphylaxis, liver reactions, pseudomembranous colitis, and peripheral blood cytopenias (anemia, neutropenia, and thrombocytopenia), alone or in combination. We report the case of a patient with a recurrent infection of the tonsils who received clindamycin. Pancytopenia, a previously unreported hematological disorder related to clindamycin use, was observed in conjunction with the infection and clindamycin treatment.

Case presentation
One month prior to hospitalization, a 22-year-old man of Hispanic origin had a tonsillar infection and cough and began to have anal pain. These conditions became exacerbated three weeks later, coinciding with a new tonsillar infection, frequent nonproductive cough, and febrile syndrome. He received clindamycin for four days prior to his admission, without improvement. While hospitalized, he was found to have fever, tonsillar abscess, hemorrhoid thrombosis, and anal fissure; the latter was immediately resected under general anesthesia. Before surgery, our patient’s blood count showed intense leukoneutropenia and mild thrombocytopenia that increased 12 hours later, along with the establishment of anemia. A bone marrow study showed decreased cell content, micromegakaryocytes, and an interruption of the differentiation of granulocytes and erythroblasts. Post-surgery, our patient received metronidazole, meropenem, and amikacin along with acetaminophen, ketoprofen, omeprazole, and pegfilgrastim, with resulting clinical and hematological improvement.

Conclusion
Our experience with this patient establishes that well-documented clinical cases should be the basis for identifying and publicizing unknown or uncommon undesirable effects of drugs. We report that, in some individuals, clindamycin can cause pancytopenia, a complication that in our patient’s case was caused by direct injury of his hematopoietic tissue.
Comparative Study on the Photocatalytic Oxidation of Glycerol Using ZnO and TiO2
Authors: Hermes Natanael A , Corsetti André , Lansarin Marla A 
Published: January 2014

Abstract
Herein, we have compared the behavior of ZnO and TiO2 in the photocatalytic oxidation of glycerol through detection of the main products. ZnO showed higher selectivity for the products where the carbon chain was preserved, such as glyceraldehyde (GAD) and dihydroxyacetone (DHA). TiO2 generated more products from the cleavage of the glycerol molecule, such as formaldehyde (FORM) and glycolaldehyde (GCOL). ZnO yielded about 16 times more GAD and 2.5 times more DHA than did TiO2.
YouTube™ as a source of patient information for lumbar discectomy
Authors: Brooks FM , Lawrence H , Jones A , McCarthy MJH 
Published: January 2014

Introduction YouTube™ contains more than 60% of all videos on the internet. Its popularity has increased, and it has now become a source of patient education and information. It is unregulated for the quality of its videos. This project was designed to assess the quality of videos on YouTube™ on lumbar discectomy. Methods A systematic search of YouTube™ was performed. The search terms used were ‘lumbar’ and ‘discectomy’. The first ten pages were reviewed. Information was recorded relating to the date of publishing, the publisher and the number of viewings. The content was reviewed using criteria based on recommendations from the British Association of Spine Surgeons website. Content was assessed and points were awarded for information relating to management options, description of the procedure (including anaesthetic, likely recovery and outcome) and complications as well as information relating to the author and his or her institute. An overall rating of ‘inadequate’, ‘poor’, ‘average’ or ‘good’ was given. Results Overall, 81 videos were identified. The total number of viewings was 2,722,964 (range: 139–111,891), with an average number of 34,037 viewings per video. There were 16 with a rating of ‘good’, 25 with a rating of ‘average’ and 40 with a rating of ‘poor’ or ‘inadequate’. The most common missing information related to anaesthesia or complications. Most videos (69/81) were broadcast by surgeons or surgical institutes. Conclusions The quality of YouTube™ videos is variable and we believe this represents the unregulated nature of broadcasts on YouTube™. Thought should be given to information in videos prior to placement.
Perioperative tranexamic acid in day-case paediatric tonsillectomy
Authors: Robb PJ , Thorning G 
Published: January 2014

Introduction Tranexamic acid has been used for many years to minimise blood loss during surgery and, more recently, to reduce morbidity after major trauma. While small studies have confirmed reduction in blood loss during tonsillectomy with its use, the rate of primary haemorrhage following tonsillectomy has not been reported. In the UK, less than 50% of children having a tonsillectomy are managed as day cases, partly because of concerns about bleeding during the initial 24 hours following surgery. Methods A retrospective review of clinical records between January 2007 and January 2013 produced 476 children between the ages of 3 and 16 years who underwent Coblation™ tonsillectomy, with or without adenoidectomy and/or insertion of ventilation tubes. All children were ASA (American Society of Anesthesiologists) grade 1 or 2 and anaesthetised using a standard day surgery protocol. Following induction of anaesthesia, all received intravenous tranexamic acid at a dose of 10–15mg/kg. Results Two children (0.4%) had minor bleeding within two hours of surgery. Both returned to theatre for haemostasis and were discharged home later the same day with no further complications. The expected rate for primary haemorrhage in the UK using this technique for tonsillectomy is 1%. Conclusions Perioperative tranexamic acid in a single, parenteral dose might reduce the incidence of primary haemorrhage following paediatric tonsillectomy, facilitating discharge on the day of surgery. The results from this observational study indicate a potential benefit and need for a large, prospective, multicentre, randomised controlled trial.
Favourable outcomes of coccygectomy for refractory coccygodynia
Authors: Haddad B , Prasad V , Khan W , Alam M , Tucker S 
Published: January 2014

Introduction Coccygodynia is a condition associated with severe discomfort in the region of the coccyx. While traditional procedures had poor outcomes and high complication rates, recent literature suggests better outcomes and lower complication rates with coccygectomy. Methods Data were collected retrospectively from clinical notes. A questionnaire was used to evaluate the outcomes. The outcome measures included pain analogue score (PAS) in sitting and during daily activities as well as patients’ overall pain relief. Overall improvement in pain and complications were documented. Results Between 2000 and 2010, 14 patients underwent total coccygectomy for refractory coccygodynia. All patients were available for follow-up appointments and the follow-up duration ranged from 24 to 132 months (mean: 80 months). The aetiology was traumatic in eight patients and non-traumatic in six. The PAS improved from a median of 9 to 4 for sitting and from 7.5 to 2.5 for daily activities. One patient had mild discharge for more than two weeks. No patients required further surgery. Twelve patients (85.7%) had excellent or good pain relief. Only one patient was unsatisfied. A Wilcoxon signed-rank test revealed significant improvement in pain when sitting (p<0.05) and during activities of daily living (p<0.05) at the final follow-up visit. A Mann–Whitney U test did not show a significant difference in improvement in PAS between the traumatic and non-traumatic groups (p=0.282 and 0.755). Conclusions In our series, total coccygectomy offered satisfactory relief of pain in the majority of patients with a low wound complication rate.
Patterns of arteriosclerotic lesions of the lower extremity in a West Indian population based on angiographic findings and ethnicity
Authors: Ramdass MJ , Harnarayan P , Mooteeram N , Nath A , Naraynsingh V , Budhooram S , Dookie T , Henry R 
Published: January 2014

Introduction This study aimed to determine whether ethnic differences show different patterns of arterial disease in the lower limb. Methods A prospective analysis of 100 consecutive patients with 160 lower limb arteriograms was performed looking at the pattern of disease with relation to ethnicity in Trinidad and Tobago. Results There were 53 male and 47 female patients with an age range of 43–90 years (mean: 66 years). Of the 100 patients, 45 were of East Indian descent, 36 of Afro-Caribbean descent, 14 of mixed descent and 5 had other backgrounds. There were 32 smokers and 69 diabetics. The most commonly affected artery in East Indians was the anterior tibial artery (ATA, 70%) followed by the peroneal artery (60%), superficial femoral artery (SFA, 60%), posterior tibial artery (PTA, 57%) and tibioperoneal trunk (TPT, 39%). In Afro-Caribbeans, the most commonly affected artery was the ATA (79%) followed by the PTA (74%), peroneal artery (66%) and TPT (55%). The mixed group showed the PTA (85%) to be most diseased followed by the peroneal artery (75%), ATA (70%), SFA (70%), dorsalis pedis artery (DPA, 60%) and TPT (50%). Overall, the most diseased vessel in all groups was the ATA (73%) followed by the PTA (66%), peroneal artery (64%), SFA (59%), TPT (46%), DPA (38%), popliteal artery (31%) and medial plantar artery (MPA, 29%), with the proximal vessels not being affected severely. Conclusions Ethnic divisions were only statistically significant (p<0.05) with East Indians showing worse disease in the profunda femoris artery and Afro-Caribbeans showing worse disease in the PTA, DPA and MPA. This suggests that environmental factors may play a significant role in the disease process including smoking and dietary factors rather than purely genetics.
A cross-sectional study of knife injuries at a London major trauma centre
Authors: Pallett JR , Sutherland E , Glucksman E , Tunnicliff M , Keep JW 
Published: January 2014

INTRODUCTION No national recording systems for knife injuries exist in the UK. Understanding the true size and nature of the problem of knife injuries is the first stage in reducing the burden of this injury. The aim of this study was to survey every knife injury seen in a single inner city emergency department (ED) over a one-year period. METHODS A cross-sectional observational study was performed of all patients attending with a knife injury to the ED of a London major trauma centre in 2011. Demographic characteristics, patterns of injury, morbidity and mortality data were collected. RESULTS A total of 938 knife injuries were identified from 127,191 attendances (0.77% of all visits) with a case fatality rate of 0.53%. A quarter (24%) of the major trauma team’s caseload was for knife injuries. Overall, 44% of injuries were selfreported as assaults, 49% as accidents and 8% as deliberate self-harm. The highest age specific incident rate occurred in the 16–24 year age category (263/100,000). Multiple injuries were seen in 19% of cases, of which only 81% were recorded as assaults. The mean length of stay for those admitted to hospital was 3.04 days. Intrathoracic injury was seen in 26% of cases of chest trauma and 24% of abdominal injuries had a second additional chest injury. CONCLUSIONS Violent intentional injuries are a significant contributory factor to the workload of the major trauma team at this centre. This paper contributes to a more comprehensive understanding of the nature of these injuries seen in the ED.
Acute Budd–Chiari syndrome due to a simple liver cyst
Authors: Long J , Vaughan-Williams H , Moorhouse J , Sethi H , Kumar N 
Published: January 2014

Simple liver cysts are common, rarely causing significant morbidity or mortality. Budd–Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow and is the leading cause of postsinusoidal liver failure. We present a rare case of BCS caused by a simple hepatic cyst. A 16cm × 16cm liver cyst was found on computed tomography of a 66-year-old woman presenting with abdominal pain. The cyst had become infected, thus enlarged, exerting mass effect with almost complete compression of the inferior vena cava. Shortly after admission, the patient developed acute liver failure, with deranged clotting and hepatic encephalopathy requiring full organ support on the intensive care unit. Cardiac output studies showed a low cardiac index of 1.4l/min/m2. An emergency laparotomy with fenestration of the cyst and drainage of 2l of purulent material led to a full recovery. Intraoperative cystic fluid aspirates later confirmed no evidence of Echinococcus. Histology confirmed a simple cyst. Liver biopsies showed severe, confluent, bridging necrosis, without background parenchymal liver disease. Acute BCS due to rapid compression of all major hepatic veins leading to fulminant hepatic failure is rare. Our case highlights a clinically significant complication of a simple liver cyst of which clinicians should be aware when managing these ‘innocent’ lesions.