bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cytogenetics of extramedullary manifestations in multiple myeloma
Authors: Billecke Lisa , Murga Penas Eva M. , May Annette M. , Engelhardt Monika , Nagler Arnon , Leiba Merav , Schiby Ginette , Kröger Nicolaus , Zustin Jozef , Marx Andreas , Matschke Jakob , Tiemann Markus , Goekkurt Eray , Heidtmann Hans‐Heinrich , Vettorazzi Eik , Dierlamm Judith , Bokemeyer Carsten , Schilling Georgia 
Published: February 2013

SummaryExtramedullary disease in patients with multiple myeloma is a rare event, occurring mostly in advanced disease or relapse. Outcome is poor and prognostic factors predicting the development of extramedullary disease have not been defined. We investigated cytogenetic alterations of myeloma cells in different extramedullary manifestations by adapting the fluorescence in situ hybridization (FISH) technique in combination with cytoplasmic immunoglobulin staining to study the cytogenetics of plasma cell tumours on paraffin embedded material. Thirty six patients were investigated: 19 with extramedullary disease, 11 with skeletal extramedullary disease and six with solitary extramedullary plasmacytoma. The first two groups showed the following results: del(17p13) 32% vs. 27%, del(13q14) 35% vs. 27%, MYC‐overrepresentation 28% vs. 18% and t(4;14) 37% vs. 18%. We detected an overall higher incidence of del(17p13) in both groups compared to data from bone marrow samples of multiple myeloma reported to date (range 7–16%). The solitary extramedullary plasmacytomas presented overall less cytogenetic aberrations than the other groups. Most important, three patients with extramedullary disease and one with skeletal extramedullary disease presented different FISH findings in the extramedullary tumour compared to their bone marrow plasma cells. del(17p13), occurring additional in three of four cases, seems a strong marker for extramedullary progression of myeloma.
Outcome after first relapse in adult patients with Philadelphia chromosome‐negative acute lymphoblastic leukaemia
Authors: Kako Shinichi , Kanamori Heiwa , Kobayashi Naoki , Shigematsu Akio , Nannya Yasuhito , Nakamae Mika , Shigeno Kazuyuki , Suzukawa Kazumi , Takeuchi Masahiro , Tsuzuki Motohiro , Usuki Kensuke , Hatanaka Kazuo , Ogawa Kazuei , Mitani Kinuko , Nawa Yuichiro , Hatta Yoshihiro , Mizuno Ishikazu , Kanda Yoshinobu 
Published: February 2013

SummaryTo analyse the outcome of adult patients who developed a first relapse of acute lymphoblastic leukaemia (ALL), we collected the clinical data of 332 patients with Philadelphia‐chromosome (Ph) negative ALL, aged 16–65 years, who relapsed after first complete remission (CR1) between 1998 and 2008 in 69 institutions all over Japan, including 58 patients who relapsed after allogeneic haematopoietic stem cell transplantation (Allo‐HSCT) in CR1. The overall survival (OS) was 43·4% at 1 year, and 16·3% at 5 years from relapse in patients who received chemotherapy alone in CR1. Among patients who relapsed after chemotherapy alone in CR1, 123 (52·5%) achieved a second remission (CR2) following salvage chemotherapy, of whom 62 subsequently underwent Allo‐HSCT during CR2. Allo‐HSCT in CR2 was significantly associated with better OS. Moreover, the type of salvage chemotherapy influenced OS from relapse. A doxorubicin, vincristine, and predonisone‐based (AdVP‐type) regimen was related to better OS in patients with longer CR1 (more than 1 year), but was related to worse OS in patients with shorter CR1. In conclusion, the prognosis of patients with relapsed Ph‐negative ALL is poor. Allo‐HSCT after a first relapse could improve the prognosis. Selection of the optimal salvage chemotherapy might depend on the duration of CR1.
Identifying and describing feelings and psychological flexibility predict mental health in men with HIV
Authors: Landstra Jodie M. B. , Ciarrochi Joseph , Deane Frank P. , Hillman Richard J. 
Published: February 2013

BackgroundDifficulty identifying and describing feelings (DIDF) and psychological flexibility (PF) predict poor emotional adjustment.ObjectiveTo examine the relationship between DIDF and PF and whether DIDF and low PF would put men undergoing cancer screening at risk for poor adjustment.DesignLongitudinal self‐report survey.MethodsTwo hundred and one HIV‐infected men who have sex with men participated in anal cancer screening at two time points over 14 weeks. Psychological flexibility was assessed by the Acceptance and Action Questionnaire II and DIDF by the Toronto Alexithymia Scale‐20. We also measured depression, anxiety, stress (DASS) and health‐related quality of life (QOL; SF‐12).ResultsBoth DIDF and PF were reliable predictors of mental health. When levels of baseline mental health were controlled, greater DIDF predicted increases in Time 2 depression, anxiety and stress and decreases in mental and physical QOL. The link between PF and mental health was entirely mediated by DIDF.ConclusionsBeing chronically low in PF could lead to greater DIDF and thereby worse mental health. Having more PF promotes the ability to identify and differentiate the nuances of pleasant and unpleasant emotions, which enhances an individual's mental health. Intentionally enhancing men's ability to identify and describe feelings or PF may assist them to better manage a range of difficult life experiences such as health screenings and other potentially threatening information.Statement of contributionWhat is already known on this subject? Difficulties identifying and describing feelings (DIDF); components of alexithymia and psychological flexibility (PF) both predict emotional adjustment. A cross‐sectional study has identified that alexithymia and PF are related concepts. Cancer screening programmes can have difficult psychological impacts.What does this study add? The longitudinal design supported cross‐sectional findings that DIDF and PF are related concepts. The link between PF and mental health was mediated by DIDF. Enhancing DIDF or PF may assist psychological responses to health screening.
Ecological, evolutionary, and conservation implications of incubation temperature‐dependent phenotypes in birds
Authors: DuRant Sarah E. , Hopkins William A. , Hepp Gary R. , Walters J. R. 
Published: February 2013

ABSTRACTIncubation is a vital component of reproduction and parental care in birds. Maintaining temperatures within a narrow range is necessary for embryonic development and hatching of young, and exposure to both high and low temperatures can be lethal to embryos. Although it is widely recognized that temperature is important for hatching success, little is known about how variation in incubation temperature influences the post‐hatching phenotypes of avian offspring. However, among reptiles it is well known that incubation temperature affects many phenotypic traits of offspring with implications for their future survival and reproduction. Although most birds, unlike reptiles, physically incubate their eggs, and thus behaviourally control nest temperatures, variation in temperature that influences embryonic development still occurs among nests within a population. Recent research in birds has primarily been limited to populations of megapodes and waterfowl; in each group, incubation temperature has substantial effects on hatchling phenotypic traits important for future development, survival, and reproduction. Such observations suggest that incubation temperature (and incubation behaviours of parents) is an important but underappreciated parental effect in birds and may represent a selective force instrumental in shaping avian reproductive ecology and life‐history traits. However, much more research is needed to understand how pervasive phenotypic effects of incubation temperature are among birds, the sources of variation in incubation temperature, and how effects on phenotype arise. Such insights will not only provide foundational information regarding avian evolution and ecology, but also contribute to avian conservation.
Androgenic pathway in triple negative invasive ductal tumors: Its correlation with tumor cell proliferation
Authors: McNamara Keely M. , Yoda Tomomi , Miki Yasuhiro , Chanplakorn Niramol , Wongwaisayawan Sansanee , Incharoen Pimpin , Kongdan Youwanush , Wang Lin , Takagi Kiyoshi , Mayu Takagi , Nakamura Yasuhiro , Suzuki Takashi , Nemoto Noriko , Miyashita Minoru , Tamaki Kentaro , Ishida Takanori , Ohuchi Noriaki , Sasano Hironobu 
Published: February 2013

Triple negative breast cancer (TNBC) is defined by estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 negativity. Patients with TNBC frequently undergo an aggressive clinical course due to the unavailability of specific targeted therapies. Androgen receptor (AR) was reported to be expressed in up to 60% of TNBC cases but there have been controversies as to the roles of androgen signaling through AR in TNBC. Therefore, in this study, we analyzed the status of AR in combination with androgen synthesizing enzymes (5α‐reductase type 1 (5αR1) and 17β‐hydroxysteroid dehydrogenase type 5 (17βHSD5)] in order to further understand androgenic actions in TNBC. Androgen receptor, 5αR1, and 17βHSD5 were immunolocalized in a cohort of 203 TNBC patients from Thailand and Japan. We then correlated the findings with clinicopathological characteristics (age, stage, tumor diameter, lymph node invasion, metastatic spread, Ki‐67 labeling index, disease‐free survival, and overall survival) of the patients. Univariate analysis revealed that AR+/enzyme+ cases were associated with a significantly lower Ki‐67 labeling index than AR−/enzyme− samples. Multivariate analysis indicated the presence of significant positive correlations between AR and enzyme status in tumor cells, and between tumor diameter, lymph node invasion, and distant metastasis. Significant negative correlations were also detected between Ki‐67 labeling index and AR status (P = 0.04) or 5αR1 (P < 0.001). Cox proportional hazards analysis showed that Ki‐67 labeling index and stage were the only factors predicting disease‐free and overall survival of the patients, although univariate Kaplan–Meier analysis revealed AR/5αR1 negativity suggested a more adverse clinical course up to 80 months after surgery. These results suggest that the presence of androgen synthesizing pathways in addition to AR expression in tumor cells could confer a better clinical outcome through suppression of cell proliferation.
What is the evidence in humans that DNA methylation changes link events in utero and later life disease?
Authors: Reynolds Rebecca M. , Jacobsen Greta H. , Drake Amanda J. 
Published: February 2013

SummaryDevelopment in utero is now recognized as crucial to determining later life disease susceptibility. Whilst mechanisms are poorly understood, there has been considerable interest in the potential role of epigenetic processes in intra‐uterine programming of disease. Epigenetic modifications include various mechanisms that influence chromatin structure and gene expression. Here, we review emerging data from human studies that altered DNA methylation links intra‐uterine events with later life disease. Further research in this field is needed to determine whether altered DNA methylation in target tissues can be used as a biomarker for the early identification of and intervention in individuals most at risk of later life disease.
Incidence of −93 MLH1 promoter polymorphism in familial and sporadic colorectal cancer
Authors: Martínez‐Urueña N. , Macías L. , Pérez‐Cabornero L. , Infante M. , Lastra E. , Cruz J. J. , Miner C. , González R. , Durán M. 
Published: February 2013

AbstractAimThe MLH1 promoter contains a common single nucleotide polymorphism (−93 guanine > adenine) located in an essential region for maximum transcriptional activity. This has been associated with an increased risk of microsatellite instability (MSI) colorectal cancer. The aim of the study was to compare the distribution of MLH1 −93G>A genotypes between patients with familial colon cancer, sporadic colon cancer and healthy subjects.MethodWe genotyped 200 familial colon samples, 183 cases of sporadic colon cancer and 236 control subjects. MSI was analysed.ResultsThe GA genotype was under‐represented in patients with familial colon cancer, whereas the AA genotype was over‐represented in cases of sporadic colon cancer. A greater frequency of the MLH1 GA genotype was found in the cancer cases with MLH1 focal immunohistochemistry (IHC) for anti‐MLH1 antibody. When we compared genotype distribution in the familial colorectal cancer cases with and without MSI, we failed to detect any correlation, although the GA genotype is more frequent in cases with MSI.ConclusionThere is a relationship between the MLH1 −93G>A polymorphism in the homozygous state and the risk of sporadic colorectal cancer. The variant MLH1 −93G>A appears to be related to cases with focal IHC activity more than to complete absence of the MLH1 protein in the tumour tissue.
Long‐term efficacy of dextranomer in stabilized hyaluronic acid (NASHA/Dx) for treatment of faecal incontinence
Authors: La Torre F. , de la Portilla F. 
Published: February 2013

AbstractAimRandomized, controlled trials have demonstrated the efficacy and safety of injectable bulking agents for the treatment of faecal incontinence (FI), although the long‐term outcome has not been assessed. NASHA/Dx gel, a biocompatible, nonallergenic bulking agent consisting of nonanimal stabilized hyaluronic acid and dextranomer microspheres, has demonstrated efficacy and safety for up to 12 months after treatment. The objective of this study was to evaluate the long‐term efficacy and safety of NASHA/Dx, assessed 24 months after treatment.MethodThis study was a 24‐month follow‐up assessment of patients treated with NASHA/Dx under open‐label conditions. Data on FI episodes and quality of life measures were collected from diaries over the 28‐day period immediately preceding the 24‐month assessment. Adverse events were collected.ResultsEighty‐three of 115 patients completed the 24‐month follow‐up assessment. At 24 months, 62.7% of patients were considered responders and experienced a ≥ 50% reduction in the total number of FI episodes. The median number of FI episodes declined by 68.8% (P < 0.001). Episodes of both solid and liquid stool incontinence decreased. The mean number of incontinence‐free days increased from 14.6 at baseline to 21.7 at 24 months (P < 0.001). Incontinence scores and FI quality of life scores also showed significant improvements. The most common adverse events (AEs) were proctalgia (13.3%) and pyrexia (9.6%). The majority of AEs were mild to moderate, self‐limited and resolved within 1 month of the injection.ConclusionNASHA/Dx is safe, effective and durable over a 24‐month period with a majority of patients experiencing significant improvement in multiple symptoms associated with FI.
The persistent challenge of parastomal herniation: a review of the literature and future developments
Authors: Hotouras A. , Murphy J. , Thaha M. , Chan C. L. 
Published: February 2013

AbstractAimThe aim of this review article was to outline current evidence relating to the treatment and prevention of parastomal herniation with a view to guide surgeons dealing with patients potentially affected by this complication.MethodMedline and PubMed databases were searched using the keywords ‘parastomal hernia/herniation’, ‘stoma hernia/herniation’ and ‘stoma complications’. Evidence was obtained from randomized and non‐randomized studies. Case reports and articles not written in English were excluded. Qualitative assessment of all included studies was performed using the Oxford Centre for Evidence‐Based Medicine 2011 levels of evidence.ResultsThe search revealed a total of 228 publications of which 115 fulfilled the selection criteria. Stoma formation through the rectus muscle is complicated by parastomal herniation in up to 50% of cases. There is no conclusive evidence that alternative techniques (e.g. extraperitoneal, lateral rectus abdominis positioned stoma) are superior. Open and laparoscopic parastomal hernia repair have similar recurrence rates up to 50%. The ‘Sugarbaker’ technique appears to be superior to the ‘keyhole’ technique when a laparoscopic approach is used. Prophylactic mesh reinforcement of the stoma trephine appears to reduce the herniation rate to approximately 15% and is accompanied by a decrease in symptomatic hernias requiring repair without any difference in stoma‐related morbidity.ConclusionLarge prospective controlled trials are required to compare surgical techniques of stoma formation in reducing the incidence of parastomal herniation. Despite limited evidence, routine prophylactic mesh reinforcement of the stoma trephine should be offered to all patients undergoing permanent stoma formation.
Clinical relevance of positron emission tomography/computed tomography‐positive inguinal nodes in rectal cancer after neoadjuvant chemoradiation
Authors: Perez R. O. , Habr‐Gama A. , São Julião G. P. , Proscurshim I. , Ono C. R. , Lynn P. , Bailão Aguilar P. , Nahas S. C. , Gama‐Rodrigues J. , Buchpiguel C. A. 
Published: February 2013

AbstractAimInguinal nodes may be a possible route for lymphatic spread in patients with distal rectal cancer. The outcome was examined for patients with distal rectal cancer undergoing neoadjuvant chemoradiation (CRT) and having 2‐fluorine‐18‐fluoro‐2‐deoxy‐d‐glucose (FDG)‐avid inguinal nodes using positron emission tomography/computed tomography (PET/CT) imaging.MethodNinety‐nine consecutive patients with cT2‐4N0‐2M0 distal rectal adenocarcinoma were enrolled in a clinical trial (NCT00254683) and underwent baseline PET/CT followed by 54 Gy and 5‐fluorouracil‐based CRT. After CRT, patients underwent 6‐ and 12‐week PET/CT. Patients with positive inguinal node uptake were compared with patients with negative uptake. The inguinal region was not included in the field of radiation therapy.ResultsSeventeen (17%) patients had baseline positive inguinal node FDG uptake. They were more likely to have the tumour closer to the anal verge (2.0 vs 4.2 cm; P = 0.001). Of these, eight (47%) demonstrated a positive inguinal uptake at PET/CT after 12 weeks from CRT. Patients with inguinal node FDG uptake after CRT (positive PET at baseline and 12 weeks) had a significantly worse 3‐year overall and disease‐free survival (P = 0.02 and P = 0.03). After a median follow‐up period of 22 months, none of these patients had developed inguinal recurrence.ConclusionUptake of inguinal nodes at PET/CT may be present in up to 17% of patients with distal rectal cancer, particularly with ultra‐low tumours. Nearly half of these nodes no longer show uptake after CRT despite the groin area not being included in the radiation field. Persistence of inguinal node uptake 12 weeks after CRT completion may be a marker for worse oncological outcome.
Use of the high dependency unit, increased consultant involvement and reduction in adverse events in patients who die after colorectal cancer surgery
Authors: Young J. A. , Waugh L. , McPhillips G. , Steele R. J. C. , Thompson A. M. 
Published: February 2013

AbstractAimWe prospectively audited adverse events for surgical patients with colorectal cancer who died under surgical care to test the hypothesis that increased critical care and consultant input could be associated with a reduction in adverse events.MethodPatients with a diagnosis of colorectal cancer who died under surgical care in Scotland from 1996 to 2005 underwent peer review audit using established methodologies through the Scottish Audit of Surgical Mortality.ResultsIn the 10‐year study period, 3029 patients with colorectal cancer, mean age 76 (13–105) years, died under surgical care, of whom 80% had presented as an emergency admission. Operative intervention was performed in 1557 (51%) patients of whom 1030 (34%) patients had a resection of the cancer. The annual number of patients dying after a cancer resection decreased significantly (P = 0.009). Significant decreases in adverse events were noted over time with a 67% fall in adverse events relating to critical care (P = 0.009), a 37% fall for surgical care (P = 0.04) and a significant increase in consultant anaesthetist and consultant surgeon input, but there was a 9% increase in delay as an adverse event (P = 0.006). The documented anastomotic leakage rate in patients who died increased from 8% in 1996 to 19% in 2005 (P = 0.016).ConclusionThe number of patients dying with colorectal cancer after surgery has decreased in recent years. Adverse events in these patients have significantly reduced over a decade with increased consultant involvement although there is the potential for further improvement.
Clinical course and rebleeding predictors of acute haemorrhagic rectal ulcer: 5‐year experience and review of the literature
Authors: Matsumoto T. , Inokuma T. 
Published: February 2013

AbstractAimThis study was carried out to clarify the clinical features of acute haemorrhagic rectal ulcer (AHRU) and to determine the risks and predictors of AHRU rebleeding.MethodForty patients with AHRU were retrospectively analysed. Patient characteristics, endoscopic features and clinical course were investigated and predictors of AHRU rebleeding were analysed.ResultsAll patients were in a bedridden state as a result of various diseases, and many patients had atherosclerosis‐related comorbidities such as hypertension (67.4%), diabetes mellitus (40.0%) and chronic kidney disease (42.5%). All patients had hypoalbuminaemia, 75% of patients were using antithrombotic drugs and 25% of patients were using systemic corticosteroids. Based on colonoscopy, all patients developed ulcers in the distal rectum just above the dentate line and 30% of patients developed whole circumferential ulcers. The median interval between the onset of the bedridden state and the first massive haematochezia was 16 days and 50% of all patients developed rebleeding regardless of the presence or absence of haemostatic therapy. The median time from initial haemostasis to rebleeding was 6 days. Univariate analysis and stepwise multivariate analysis revealed that whole circumferential ulcer (P = 0.036) was a significant independent predictor of AHRU rebleeding.ConclusionIn the present study, we elucidated the clinical features of AHRU in detail and reviewed previous reports of AHRU. Rebleeding of AHRU occurred at a high rate and whole circumferential ulcer was a significant independent predictor of AHRU rebleeding.