bluuebunny/crossref_metadata_2025_split huggingface dataset:
First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report
Authors: Ripamonti Carla B , Colombo Mara , Mondini Patrizia , Siranoush Manoukian , Peissel Bernard , Bernard Loris , Radice Paolo , Carcangiu Maria Luisa 
Published: February 2013

AbstractBackgroundAcinic cell carcinoma (ACC) is a rare malignant epithelial neoplasm characterized by the presence of malignant tubular acinar exocrine gland structures. Diagnosis is generally made in salivary glands and in the pancreas. ACC of the breast has been reported in few cases only. Carriers of inherited mutations in theBRCA1gene are prone to the development of breast cancer, mainly invasive ductal or medullary type carcinomas. We describe for the first time aBRCA1mutation carrier with a diagnosis of ACC of the breast.Case presentationThe patient developed an invasive ductal carcinoma (IDC) at the age of 40 years and an ACC in the contralateral breast at 44 years. Immunohistochemical examination of the ACC revealed a triple negative status (i.e., negativity for estrogen receptor, progesterone receptor and HER2 protein) and positivity for p53. Using a combination of loss of heterozygosity (LOH) and sequencing analyses, the loss of the wild-typeBRCA1allele was detected in both the ACC and the IDC. In addition, two different somaticTP53mutations, one in the ACC only and another one in the IDC only, were observed.ConclusionBoth the immunohistochemical and molecular features observed in the ACC are typical ofBRCA1-associated breast cancers and suggest an involvement of the patient’s germline mutation in the disease. The occurrence of rare histological types of breast cancers, including malignant phyllodes tumor, atypical medullary carcinoma and metaplastic carcinoma, inBRCA1mutation carriers has been already reported. Our findings further broaden the spectrum ofBRCA1-associated breast malignancies.
Reduced duration mismatch negativity in adolescents with psychotic symptoms: further evidence for mismatch negativity as a possible biomarker for vulnerability to psychosis
Authors: Murphy Jennifer R , Rawdon Caroline , Kelleher Ian , Twomey Deirdre , Markey Patrick S , Cannon Mary , Roche Richard AP 
Published: February 2013

Abstract

Background
Deficits in the mismatch negativity (MMN) and P3a components are the most reliable and robust findings in schizophrenia. These abnormalities have also been recently documented in individuals clinically at risk for psychosis, indicating that the MMN may be a potential biomarker for psychosis. However, the at risk samples included in MMN studies are characterised by pre-existing clinical symptomatology and significant functional decline which are related to MMN amplitude. These factors may be potential confounds in determining whether deficient MMN is present prior to clinical manifestation of the disorder. Therefore, investigating the MMN in the extended psychosis phenotype comprising adolescents with psychotic symptoms from the general population may provide important information on whether abnormal MMN is apparent in the earliest stages of risk.

Methods
Thirty six adolescents completed a duration deviant MMN task. Fourteen adolescents with psychotic symptoms comprised the at risk group and 22 with no psychotic symptoms comprised the Controls. The task consisted of 85% standard tones (25 ms) and 15% deviant tones (50 ms). The groups were compared on MMN and P3a amplitude and latency across frontocentral and temporal electrodes.

Results
Adolescents with psychotic symptoms were characterised by a reduction in MMN amplitude at frontal and temporal regions compared to the controls.

Conclusions
This is the first study to demonstrate impaired auditory discrimination for duration deviant tones in nonclinical adolescents with psychotic symptoms. These findings suggest that MMN amplitude may be a possible biomarker for vulnerability to psychosis.
Expression of drug targets in primary and matched metastatic renal cell carcinoma tumors
Authors: Aziz Saadia A , Sznol Joshua A , Adeniran Adebowale , Parisi Fabio , Kluger Yuval , Camp Robert L , Kluger Harriet M 
Published: February 2013

Abstract

Background
Targeted therapies in renal cell carcinoma can have different effects on primary and metastatic tumors. To pave the way for predictive biomarker development, we assessed differences in expression of targets of currently approved drugs in matched primary and metastatic specimens from 34 patients.

Methods
Four cores from each site were embedded in tissue microarray blocks. Expression of B-Raf, C-Raf, cKIT, FGF-R1, HIF-2α, mTOR, PDGF-Rβ, VEGF-R1, VEGF-R2, VEGF-R3, VEGF, VEGF-B, VEGF-C, VEGF-D, MEK1, and ERK1/2 was studied using a quantitative immunofluorescence method.

Results
No significant differences were observed in global expression levels in primary and metastatic renal cell carcinoma tumors, with the exception of MEK, which had higher expression in metastatic than primary specimens. Similarly, more ki67 positive cells were seen in metastatic specimens. Correlations between marker expression in primary and metastatic specimens were variable, with the lowest correlation seen for FGF-R1 and VEGF-D. There were no significant differences in the degree of heterogeneity in primary versus metastatic tumors.

Conclusions
Expression of most of the studied markers was similar in primary and metastatic renal cell carcinoma tumors, suggesting that predictive biomarker testing for these markers can be conducted on either the primary or metastatic tumors for most markers.
Communication training for advanced medical students improves information recall of medical laypersons in simulated informed consent talks – a randomized controlled trial
Authors: Werner Anne , Holderried Friederike , Schäffeler Norbert , Weyrich Peter , Riessen Reimer , Zipfel Stephan , Celebi Nora 
Published: February 2013

Abstract

Background
Informed consent talks are mandatory before invasive interventions. However, the patients’ information recall has been shown to be rather poor. We investigated, whether medical laypersons recalled more information items from a simulated informed consent talk after advanced medical students participated in a communication training aiming to reduce a layperson’s cognitive load.

Methods
Using a randomized, controlled, prospective cross-over-design, 30 5th and 6th year medical students were randomized into two groups. One group received communication training, followed by a comparison intervention (early intervention group, EI); the other group first received the comparison intervention and then communication training (late intervention group, LI). Before and after the interventions, the 30 medical students performed simulated informed consent talks with 30 blinded medical laypersons using a standardized set of information. We then recorded the number of information items the medical laypersons recalled.

Results
After the communication training both groups of medical laypersons recalled significantly more information items (EI: 41 ± 9% vs. 23 ± 9%, p < .0001, LI 49 ± 10% vs. 35 ± 6%, p < .0001). After the comparison intervention the improvement was modest and significant only in the LI (EI: 42 ± 9% vs. 40 ± 9%, p = .41, LI 35 ± 6% vs. 29 ± 9%, p = .016).

Conclusion
Short communication training for advanced medical students improves information recall of medical laypersons in simulated informed consent talks.
An investigation into the spiritual needs of neuro-oncology patients from a nurse perspective
Authors: Nixon Aline Victoria , Narayanasamy Aru , Penny Vivian 
Published: February 2013

AbstractBackgroundSpiritual needs of cancer patients should be assessed and discussed by healthcare professionals. Neurosurgical nurses need to be able to assess and support neuro-oncology patients with their spiritual needs from diagnosis and throughout their hospital stay.MethodsData were collected through questionnaires using a Critical Incident Technique (CIT) from neurosurgical nurses, findings were analysed using thematic analysis.ResultsNurses reported some awareness of their patients’ spiritual needs during their stay on neurosurgical units although some used expressions approximating what could be described as spiritual needs. Patients’ spiritual needs were identified as: need to talk about spiritual concerns, showing sensitivity to patients’ emotions, responding to religious needs; and relatives’ spiritual needs included: supporting them with end of life decisions, supporting them when feeling being lost and unbalanced, encouraging exploration of meaning of life, and providing space, time and privacy to talk. Participants appeared largely to be in tune with their patients’ spiritual needs and reported that they recognised effective strategies to meet their patients’ and relatives’ spiritual needs. However, the findings also suggest that they don’t always feel prepared to offer spiritual support for neuro-oncology patients.ConclusionsThere is a need for healthcare professionals to provide spiritual care for neuro-oncology patients and their relatives. Although strategies were identified that nurses can use to support patients with spiritual needs further research is required to explore how effective nurses are at delivering spiritual care and if nurses are the most appropriate professionals to support neuro-oncology patients with spiritual care.
Feasibility of offering nicotine replacement therapy as a relapse prevention treatment in routine smoking cessation services
Authors: Turner Jessica , McNeill Ann , Coleman Tim , Bee Jo Leonardi , Agboola Shade 
Published: February 2013

Abstract

Background
National Health Service stop smoking services (NHS SSS) in the UK offer cost- effective smoking cessation services. Despite high abstinence rates after acute cessation treatment, the majority of clients have relapsed by one year. Several interventions have been identified, from trial data, as effective in preventing relapse to smoking. This study investigated uptake, feasibility and acceptability of offering nicotine replacement therapy (NRT) as a relapse prevention intervention (RPI) in NHS SSS.

Methods
Eligible smokers who had successfully completed acute cessation treatment using NRT at Nottingham City NHS SSS between April 2010 and January 2011 were offered the RPI and the rate of uptake was monitored. Consenting individuals completed a baseline questionnaire, providing demographic and smoking behaviour data. The RPI consisted of using NRT for a further 12 weeks after initial cessation-orientated treatment had ended. At a six-month review, self-reported smoking status was assessed via telephone. Anonymised demographic data on NHS SSS users who did not agree to participate in the study were retrieved from NHS SSS records and used to determine the presence of any socio-demographic differences between individuals who agreed to participate in the study and those who did not. Semi-structured telephone interviews were conducted with a selection of participants; these were audio-recorded, transcribed and analysed to identify participants’ views on the RPI.

Results
Of 493 stop smoking service clients who were assessed, 260 were eligible for and offered the RPI and 115 (44%, CI 38%- 50%) accepted. Individuals who accepted NRT were significantly more likely to be older (p < 0.001) and to pay for their prescriptions (p < 0.001). Quitters who had never worked or were unemployed were significantly less likely to accept the offer of relapse prevention compared to those in routine and manual occupations (55% reduction in odds, p = 0.026).
Interview findings revealed that clients who accepted extended NRT felt the longer duration of pharmacological and psychological support were both valuable in helping them to remain abstinent.

Conclusion
In routine smoking cessation service care, it is feasible to offer clients extended courses of NRT as a RPI. The RPI was acceptable to them as almost half of the eligible clients offered this treatment accepted it.
High-level intracellular expression of heterologous proteins in Brevibacillus choshinensis SP3 under the control of a xylose inducible promoter
Authors: D’Urzo Nunzia , Martinelli Manuele , Nenci Chiara , Brettoni Cecilia , Telford John L , Maione Domenico 
Published: February 2013

Abstract

Background
In past years research has focused on the development of alternative Gram positive bacterial expression systems to produce industrially relevant proteins. Brevibacillus choshinensis is an easy to handle non-sporulating bacterium, lacking extracellular proteases, that has been already shown to provide a high level of recombinant protein expression. One major drawback, limiting the applicability of the Brevibacillus expression system, is the absence of expression vectors based on inducible promoters. Here we used the PxylA inducible promoter, commonly employed in other Bacillae expression systems, in Brevibacillus.

Results
Using GFP, α-amylase and TcdA-GT as model proteins, high level of intracellular protein expression (up to 250 mg/L for the GFP) was achieved in Brevibacillus, using the pHis1522 vector carrying the B. megaterium xylose-inducible promoter (PxylA). The GFP expression yields were more than 25 fold higher than those reported for B. megaterium carrying the same vector. All the tested proteins show significant increment in their expression levels (2-10 folds) than those obtained using the available plasmids based on the P2 constitutive promoter.

Conclusion
Combining the components of two different commercially available Gram positive expression systems, such as Brevibacillus (from Takara Bio) and B. megaterium (from Mobitec), we demonstrate that vectors based on the B. megaterium PxylA xylose inducible promoter can be successfully used to induce high level of intracellular expression of heterologous proteins in Brevibacillus.
The imaging and pathological features of a mucinous tubular and spindle cell carcinoma of the kidney: a case report
Authors: Lima Marcela Sampaio , Barros-Silva Gyl Eanes , Pereira Renan Augusto , Ravinal Roberto Cuan , Junior Silvio Tucci , Costa Roberto Silva , Muglia Valdair Francisco 
Published: February 2013

Abstract
A mucinous tubular and spindle cell carcinoma (MTSCC) is a rare and recently described kidney neoplasm with distal nephron differentiation. It can affect patients of all ages and is more prevalent among women. In this case report, we present a 50-year-old woman who had a renal mass, which was accidently discovered during an investigation for chronic anemia. The final diagnosis of MTSCC was made after the lesion was removed and a pathology work-up was performed. The clinical, pathological and imaging findings of this rare neoplasm are described in this report.
Surgical inflammatory stress: the embryo takes hold of the reins again
Authors: Aller Maria-Angeles , Arias Jose-Ignacio , Prieto Isabel , Gilsanz Carlos , Arias Ana , Yang Heping , Arias Jaime 
Published: February 2013

Abstract
The surgical inflammatory response can be a type of high-grade acute stress response associated with an increasingly complex trophic functional system for using oxygen. This systemic neuro-immune-endocrine response seems to induce the re-expression of 2 extraembryonic-like functional axes, i.e. coelomic-amniotic and trophoblastic-yolk-sac-related, within injured tissues and organs, thus favoring their re-development. Accordingly, through the up-regulation of two systemic inflammatory phenotypes, i.e. neurogenic and immune-related, a gestational-like response using embryonic functions would be induced in the patient’s injured tissues and organs, which would therefore result in their repair. Here we establish a comparison between the pathophysiological mechanisms that are produced during the inflammatory response and the physiological mechanisms that are expressed during early embryonic development. In this way, surgical inflammation could be a high-grade stress response whose pathophysiological mechanisms would be based on the recapitulation of ontogenic and phylogenetic-related functions. Thus, the ultimate objective of surgical inflammation, as a gestational process, is creating new tissues/organs for repairing the injured ones. Since surgical inflammation and early embryonic development share common production mechanisms, the factors that hamper the wound healing reaction in surgical patients could be similar to those that impair the gestational process.
Why is greater medication adherence associated with better outcomes
Authors: Hartz Arthur , He Tao 
Published: February 2013

Abstract
Background
Previous studies found an association of greater adherence to placebo medication with better outcomes. The present study tested whether this association was explained by any of the following factors: 1) adherence to other medications, 2) healthcare behaviors, 3) disease risk, or 4) predicted degree of adherence. Data included information on more than 800 risk factors from 27,347 subjects in two randomized controlled trials of hormone therapy in the Women's Health Initiative.

Results
Greater adherence to placebo was not associated with colon cancer but was substantially and significantly associated with several diverse outcomes: death, myocardial infarction, stroke, and breast cancer. Adherence to hormone therapy was only weakly associated with outcomes. The WHI risk factors only poorly predicted degree of adherence, R2 < 4%. No underlying factors accounted for the association between placebo adherence and outcome.

Conclusion
The results suggest that adherence to placebo is a marker for important risk factors that were not measured by WHI. Once identified these risk factors may be used to increase the validity of observational studies of medical treatment by reducing unmeasured confounding.
Animal-related injuries in a resource-limited setting: experiences from a Tertiary health institution in northwestern Tanzania
Authors: Gilyoma Japhet M , Mabula Joseph B , Chalya Phillipo L 
Published: February 2013

Abstract

Background
Animal related injuries are a major but neglected emerging public health problem and contribute significantly to high morbidity and mortality worldwide. No prospective studies have been done on animal related injuries in our setting. This study was conducted to determine the management patterns and outcome of animal related injuries and their social impact on public health policy in the region.

Methods
This was a descriptive prospective study of animal related injury patients that presented to Bugando Medical Centre between September 2007 and August 2011. Statistical data analysis was done using SPSS computer software version 17.0.

Results
A total of 452 (8.3%) animal-related injury patients were studied. The modal age group was 21-30 years. The male to female ratio was 2.1:1. Dog-bites (61.1%) were the most common injuries. Musculoskeletal (71.7%) region was the most frequent body region injured. Soft tissue injuries (92.5%) and fractures (49.1%) were the most common type of injuries sustained. Only 140 (31.0%) patients were hospitalized and most of them (97.1%) were treated surgically. Wound debridement was the most common procedure performed in 91.2% of patients. Postoperative complication rate was 15.9%, the commonest being surgical site infections (SSI) in 55.1% of patients. SSI was significantly associated with late presentation and open fractures (P < 0.001). The overall median duration of hospitalization was 16 days. Patients who had severe injuries, long bone fractures and those with hemiplegia stayed longer in the hospital (P < 0.001). Mortality rate was 10.2% and was significantly high in patients with severe injuries, severe head injury, tetanus and admission SBP < 90 mmHg (P < 0.001). The follow up of patients was poor.

Conclusion
Animal related injuries constitute a major public health problem in our setting and commonly affect the young adult male in their economically productive age-group. Measures towards prevention and proper treatment and follow up are important in order to reduce morbidity and mortality resulting from this form of trauma
Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy
Authors: Santorelli Filippo Maria , Garavaglia Barbara , Cardona Francesco , Nardocci Nardo , Bernardina Bernardo Dalla , Sartori Stefano , Suppiej Agnese , Bertini Enrico , Claps Dianela , Battini Roberta , Biancheri Roberta , Filocamo Mirella , Pezzini Francesco , Simonati Alessandro 
Published: February 2013

Abstract

Background
To review the descriptive epidemiological data on neuronal ceroid lipofuscinoses (NCLs) in Italy, identify the spectrum of mutations in the causative genes, and analyze possible genotype-phenotype relations.

Methods
A cohort of NCL patients was recruited through CLNet, a nationwide network of child neurology units. Diagnosis was based on clinical and pathological criteria following ultrastructural investigation of peripheral tissues. Molecular confirmation was obtained during the diagnostic procedure or, when possible, retrospectively.

Results
One hundred eighty-three NCL patients from 156 families were recruited between 1966 and 2010; 124 of these patients (from 88 families) were tested for known NCL genes, with 9.7% of the patients in this sample having not a genetic diagnosis. Late infantile onset NCL (LINCL) accounted for 75.8% of molecularly confirmed cases, the most frequent form being secondary to mutations in CLN2 (23.5%). Juvenile onset NCL patients accounted for 17.7% of this cohort, a smaller proportion than found in other European countries. Gene mutations predicted severe protein alterations in 65.5% of the CLN2 and 78.6% of the CLN7 cases. An incidence rate of 0.98/100,000 live births was found in 69 NCL patients born between 1992 and 2004, predicting 5 new cases a year. Prevalence was 1.2/1,000,000.

Conclusions
Descriptive epidemiology data indicate a lower incidence of NCLs in Italy as compared to other European countries. A relatively high number of private mutations affecting all NCL genes might explain the genetic heterogeneity. Specific gene mutations were associated with severe clinical courses in selected NCL forms only.