bluuebunny/crossref_metadata_2025_split huggingface dataset:
A mycotic aneurysm related to Salmonella Rissen infection: a case report
Authors: Nagrodzki Jakub , Sharrocks Katherine E. , Wong Vanessa K. , Carmichael Andrew J. 
Published: January 2020

Abstract
Background
Salmonella species commonly causes infection in humans and on occasion leads to serious complications, such as mycotic aneurysms. Here, we present the first case reported of a patient with a mycotic aneurysm likely secondary to Salmonella Rissen infection.

Case presentation
The patient presented with 4 weeks of lower back pain, chills and a single episode of diarrhoea 2 months prior during a 14-day trip to Hong Kong and Taiwan. Magnetic resonance imaging revealed an aneurysmal left internal iliac artery with adjacent left iliacus rim-enhancing collection. A stool culture was positive for Salmonella Rissen ST 469 EBG 66 on whole genome sequencing. The patient underwent an emergency bifurcated graft of his internal iliac aneurysm and was successfully treated with appropriate antibiotics.

Conclusions
This case highlights the importance of considering the diagnosis of a mycotic aneurysm in an unusual presentation of back pain with features of infection.
DSP p.(Thr2104Glnfs*12) variant presents variably with early onset severe arrhythmias and left ventricular cardiomyopathy
Authors: Heliö Krista , Kangas-Kontio Tiia , Weckström Sini , Vanninen Sari U. M. , Aalto-Setälä Katriina , Alastalo Tero-Pekka , Myllykangas Samuel , Heliö Tiina M. , Koskenvuo Juha W. 
Published: January 2020

Abstract
Background
Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in the absence of severe coronary artery disease or abnormal loading conditions. Mutations in the titin (TTN) and lamin A/C (LMNA) genes are the two most significant contributors in familial DCM. Previously mutations in the desmoplakin (DSP) gene have been associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and more recently with DCM.

Methods
We describe the cardiac phenotype related to a DSP mutation which was identified in ten unrelated Finnish index patients using next-generation sequencing. Sanger sequencing was used to verify the presence of this DSP variant in the probands’ relatives. Medical records were obtained, and clinical evaluation was performed.

Results
We identified DSP c.6310delA, p.(Thr2104Glnfs*12) variant in 17 individuals of which 11 (65%) fulfilled the DCM diagnostic criteria. This pathogenic variant presented with left ventricular dilatation, dysfunction and major ventricular arrhythmias. Two patients showed late gadolinium enhancement (LGE) and myocardial edema on cardiac magnetic resonance imaging (MRI) that may suggest inflammatory process at myocardium.

Conclusions
The patients diagnosed with DCM showed an arrhythmogenic phenotype as well as SCD at young age supporting the recently proposed concept of arrhythmogenic cardiomyopathy. This study also demonstrates relatively low penetrance of truncating DSP variant in the probands’ family members by the age of 40. Further studies are needed to elucidate the possible relations between myocardial inflammation and pathogenic DSP variants.
Diagnostic and treatment challenge of unrecognized subacute bacterial endocarditis associated with ANCA-PR3 positive immunocomplex glomerulonephritis: a case report and literature review
Authors: Bele D. , Kojc N. , Perše M. , Černe Čerček A. , Lindič J. , Aleš Rigler A. , Večerić-Haler Ž. 
Published: January 2020

Abstract
Background
Diagnosis and treatment of either ANCA disease or silent infection-related glomerulonephritis is complicated and is a huge treatment challenge when overlapping clinical manifestations occur. We report a case of ANCA-PR3 glomerulonephritis, nervous system involvement, hepatosplenomegaly and clinically silent subacute infectious endocarditis.

Case presentation
A 57-year-old man with known mitral valve prolaps was admitted for unexplained renal failure with signs of nephritic syndrome, hepatosplenomegaly, sudden unilateral hearing loss, vertigo, malaise, new onset hemolytic anemia and thrombocytopenia. Immunoserology revealed positive c-anti-neutrophil cytoplasm antibody (ANCA)/anti-proteinase 3 (anti-PR3), mixed type crioglobulinemia and lowered complement fraction C3. Head MRI showed many microscopic hemorrhages. Common site of infection, as well as solid malignoma were ruled out. In accordance with clinical and laboratory findings, systemic vasculitis was assumed, although the etiology remained uncertain (ANCA-associated, cryoglobulinemic or related to unrecognized infection). After kidney biopsy, clinical signs of sepsis appeared. Blood cultures revealed Streptococcus cristatus. Echocardiography showed mitral valve endocarditis. Kidney biopsy revealed proliferative, necrotizing immunocomplex glomerulonephritis. Half a year later, following intravenous immunoglobulins, glucocorticoids, antibiotic therapy and surgical valve repair, the creatinine level decreased and c-ANCA and cryoglobulins disappeared. A second kidney biopsy revealed no residual kidney disease. Four years after treatment, the patient is stable with no symptoms or signs of vasculitis recurrence.

Conclusions
Here we describe the diagnostic and treatment challenge in a patient with unrecognized subacute bacterial endocarditis associated with ANCA-PR3 immunocomplex proliferative and crescentic glomerulonephritis. In patients with ANCA-PR3 immunocomplex glomerulonephritis and other overlapping manifestations suggesting systemic disease, it is important to recognize and aggressively treat any possible coexisting bacterial endocarditis, This is the most important step for a favorable patient outcome, including complete clinical and pathohistological resolution of the glomerulonephritis.
Sexual dysfunction and mental health in patients with multiple sclerosis and epilepsy
Authors: Petersen Marian , Kristensen Ellids , Giraldi Laura , Giraldi Annamaria 
Published: January 2020

Abstract
Background
Epilepsy and multiple sclerosis (MS) are two neurological diseases known to greatly influence a patient’s life. The primary aim of this study was to describe the prevalence of sexual dysfunction in patients with epilepsy and MS and investigate whether there is an association between disease, sexual function, and physical and mental health. A secondary aim was to investigate whether there is a difference in sexual function between patients with MS and epilepsy.

Methods
A total of 414 patients were included in this descriptive cross-sectional study. Three patient report questionnaires were used for measurements: the Changes in Sexual Function Questionnaire (CSFQ) cut-off score; the Short Form 36 Health Survey (SF-36) divided into the Physical Component Summary (PCS) and Mental Component Summary (MCS), and the Life Satisfaction—11 (LiSat-11).

Results
Patients with MS constituted 62% (n = 258) of the participants and patients with epilepsy 38% (n = 156). The prevalence of sexual dysfunction was 68% in women and 77% in men. No differences were found between patients with MS and epilepsy (p = 0.184), except for the CSFQ desire domain, as patients with epilepsy more often had a desire problem (p = 0.029). On the SF-36, patients with MS scored significantly worse on the PCS (p = 0.000). Patients with epilepsy scored significantly worse on the MCS (p = 0.002). No significant differences were found on the LiSat-11. Regression analysis with CSFQ as the dependent variable showed an association with the PCS in men and an association with both PCS and MCS in women.

Conclusions
In this study, the cohort of patients with MS and epilepsy had negatively affected sexual function. The only significant difference between patients with MS and epilepsy in sexual function measured by the CSFQ-14, was found in the frequency of desire, in which a larger number of patients with epilepsy reported sexual dysfunction. In the studied cohort, sexual function in women is associated with both physical and mental health, and in men with physical health. These results should be considered when caring for patients with epilepsy and MS.
Inconsistent trauma reporting is associated with emotional and behavioural problems and psychotic experiences in young people
Authors: Burns Annette , Coughlan Helen , Cannon Mary 
Published: January 2020

Abstract
Background
Little is known about the prevalence of inconsistent trauma reporting in community samples and about its associations with psychopathology. This study aimed to assess for the first time the prevalence of inconsistent trauma reporting in a community sample of children/adolescents and to explore associations with both psychotic experiences and with psychopathology more generally.

Method
A community-based sample of 86 children/adolescents (baseline mean age 11.5) were interviewed at two time points with data collected in relation to potentially traumatic events through the K-SADS. Emotional and behavioural problems were assessed at follow-up (mean age 15.7) through the Youth Self Report questionnaire while the presence of psychotic experiences was based on expert consensus post interview. Logistic regression models were used to test associations between inconsistent reporting and psychotic experiences at baseline and follow-up, with associations with emotional and behavioral problems at follow-up also assessed.

Results
Overall, 16.3% of adolescents failed to report previously reported potentially traumatic events at follow-up and were therefore defined as inconsistent trauma reporters. Inconsistent reporting was associated with emotional and behavioural problems as assessed by the Youth Self Report with the exception of rule breaking behaviour and with psychotic experiences as assessed on interview.

Conclusions
Inconsistent trauma reporting is associated with psychotic experiences and emotional and behavioural problems in young people and may represent an important marker for psychopathology in youth.
Defining cognitive and functional profiles in schizophrenia and affective disorders
Authors: Huang Yu-Chi , Lee Yu , Lee Chun-Yi , Lin Pao-Yen , Hung Chi-Fa , Lee Sheng-Yu , Wang Liang-Jen 
Published: January 2020

Abstract
Background
Neurocognitive dysfunction is a common symptom of various major psychiatric disorders, including schizophrenia, major depressive disorder (MDD), and bipolar I disorder (BD). In this study, we investigated whether cognitive profiles and daily skill functioning could effectively differentiate between patients with schizophrenia, MDD, and BD.

Method
In this cross-sectional study, we recruited a total of 63 patients with schizophrenia, 55 patients with MDD, 43 patients with BD, and 92 healthy control subjects. We evaluated participants’ cognitive functions and functional capacity using the Brief Assessment of Cognition in Schizophrenia (BACS) and the UCSD Performance-based Skills Assessment, Brief Version (UPSA-B), respectively. Multivariate analysis of covariance was then adopted to determine inter-group differences in BACS and UPSA-B performance.

Results
The BACS was capable of differentiating patients with a major psychiatric disorder (schizophrenia, MDD, and BD) from healthy subjects. Furthermore, schizophrenia patients had poorer motor speed performance than patients with affective disorders. The UPSA-B, particularly the financial portion, was able to distinguish schizophrenia patients from other groups. However, we did not observe any differences in UPSA-B performance between patients with mood disorders and the healthy controls. No significant difference between patients with BD and those with MDD were observed in either cognitive function or in functional capacity. The performances of the BACS and the UPSA-B were positively correlated, particularly in the MDD group.

Conclusion
Considering overall performance, the BACS and the UPSA-B characterize different endophenotyping profiles in the aforementioned four participant groups. Therefore, the results support the need for comprehensive assessments that target both cognitive function and functional capacity for patients with major psychiatric disorders.
“We struggle with the earth everyday”: parents’ perspectives on the capabilities for healthy child growth in haor region of Bangladesh
Authors: Chakraborty Barnali , Yousefzadeh Sepideh , Darak Shrinivas , Haisma Hinke 
Published: January 2020

AbstractBackgroundChildhood stunting is an important public health problem in thehaorregion of Bangladesh.Haorareas are located in the north-eastern part of the country and are vulnerable to seasonal flooding. The key objective of this study is to identify the capabilities of the parents and their children that shape multidimensional child growth outcomes in thehaorregion in the first thousand days of life.MethodsA qualitative study was conducted in two sub-districts of thehaorregion, including inDeraiin theSunamganjdistrict andBaniachangin theHabiganjdistrict. We facilitated eight focus group discussions with the parents of children under age two. To allow us to explore individual stories, we conducted in-depth interviews with four fathers and four mothers. A capability framework to child growth was used in shaping the interview guides and analysing the data.ResultsThe findings were categorised at four levels: a) capabilities for the child, b) capabilities for the mother, c) capabilities for the father, and d) capabilities at the household level. At the child’s level, the parents discussed the capability to stay away from disease and to eat well, the capability to stay happy and playful, and the capability to be born with God’s blessings and the hereditary traits needed to grow in size. The mothers frequently mentioned the capability to stay healthy and nourished, to stay away from violence, and to practice autonomy in allocating time for child care. The fathers stressed the earning opportunities that are affected by long-term flooding and the loss of agricultural productivity. At the household level, they discussed the capability to live in a safe shelter, to be mobile, to overcome their struggles with the earth, and to have a source of safe drinking water.ConclusionsThe capability framework for child growth helped identify relevant capabilities in thehaorregion. These findings can guide discussions with communities and policy makers about developing programmes and interventions aimed at enhancing the identified capabilities for child growth in this vulnerable region.
Micro-feedback skills workshop impacts perceptions and practices of doctoral faculty
Authors: Baseer Najma , Degnan James , Moffat Mandy , Mahboob Usman 
Published: January 2020

AbstractBackgroundDoctoral supervision is a distinct form of supervision with clearly defined responsibilities. One of these is the delivery of effective face-to-face feedback to allow supervisees to improve upon their performances. Unfortunately, doctoral supervisors, especially of health sciences, are often not trained in supervisory skills and therefore practice mostly on a trial and error basis. Lack of understanding of the feedback process leads to incongruence in how supervisors and supervisees perceive feedback. However, standardized training practices like microteaching can allow supervisors to acquire effective feedback practices. In this study we employed a schematic approach of microteaching, that is micro-feedback, in a workshop to develop feedback skills of doctoral supervisors, and assessed the overall effectiveness of this training using the Kirkpatrick evaluation framework.MethodologyThis was a Quasi-experimental study with a repeated measures and a two-group separate sample pre-post test design. A micro-feedback skills workshop was organized to enhance feedback skills of doctoral supervisors using microteaching technique. The first two levels of the Kirkpatrick evaluation model were used to determine the workshop’s effectiveness. An informal Objective Structured Teaching Exercise (OSTE) was used to assess feedback skills of the supervisors, both before and after the workshop. A questionnaire was developed to compare pre-and post-workshop perceptions of the supervisors (n = 17) and their corresponding supervisees (n = 34) regarding the ongoing feedback practice.ResultsDespite the hectic schedule, most doctoral supervisors (17 of 24, 71%) were willing to undertake faculty development training. Participants indicated a high level of satisfaction with the workshop. A learning gain of 56% was observed on pre-post OSTE scores. Prior to the workshop, perceptions of how supervisees should be given the feedback differed significantly between supervisors and supervisees with an effect size difference ofr = 0.30. After the workshop there was a negligible difference in perceptions between supervisors and supervisees (r = .001). Interestingly, supervisors shifted their perceptions more toward those that were originally held by the supervisees.ConclusionsThese findings suggest that well-designed and properly assessed structured programs such as micro-feedback workshops can improve how doctoral supervisors provide feedback to their supervisees and align supervisors’ perceptions of that feedback with those of their supervisees.
Implementation status of household contact tuberculosis screening by health extension workers: assessment findings from programme implementation in Tigray region, northern Ethiopia
Authors: Gebretnsae Hailay , Ayele Brhane Gebrekidan , Hadgu Tsegay , Haregot Esayas , Gebremedhin Aregay , Michael Eyassu , Abraha Mebrahtu , Datiko Daniel G. , Jerene Degue 
Published: January 2020

Abstract
Background
In the Tigray region of Ethiopia, Health Extension Workers (HEWs) conduct Tuberculosis (TB) screening for all household (HH) contacts. However, there is limited evidence on implementation status of HH contact TB screening by HEWs. The aim of this program assessment was to describe the implementation status and associated factors of HH contact TB screening by HEWs.

Methods
This programme assessment was conducted in three randomly selected districts from March to April 2018. Data was collected by using pre-tested structured questionnaire. Descriptive statistics was carried out using frequency tables. Logistic regression analysis was done to identify factors associated with HH contacts screening by HEWs.

Results
In this programme assessment a total of HHs of 411 index TB cases were included. One-fifth (21.7%) of index TB cases had at least one HH contact screened for TB by HEWs. Having TB treatment supporter (TTS) during intensive phase of index TB case (AOR = 2.55, 95% CI: 1.06–6.01), health education on TB to HH contacts by HEWs (AOR = 4.28, 95% CI: 2.04–9.00), HH visit by HEWs within 6 months prior to the programme assessment (AOR = 5.84, 95% CI: 2.81–12.17) and discussions about TB activities by HEWs with Women Development Army (WDA) leaders (AOR = 9.51, 95% CI: 1.49–60.75) were significantly associated with household contact TB screening by HEWs.

Conclusions
Our finding revealed that the proportion of HH contact TB screened by HEWs was low. Therefore, HEWs should routinely visit HHs of index TB cases and provide regular health education to improve contact screening practice. In addition, it is highly recommended to strengthen HEWs regular discussion about TB activities with WDA leaders and TB TTS.
The impact of tumor board on cancer care: evidence from an umbrella review
Authors: Specchia Maria Lucia , Frisicale Emanuela Maria , Carini Elettra , Di Pilla Andrea , Cappa Danila , Barbara Andrea , Ricciardi Walter , Damiani Gianfranco 
Published: January 2020

Abstract
Background
Tumor Boards (TBs) are Multidisciplinary Team (MDT) meetings in which different specialists work together closely sharing clinical decisions in cancer care. The composition is variable, depending on the type of tumor discussed. As an organizational tool, MDTs are thought to optimize patient outcomes and to improve care performance. The aim of the study was to perform an umbrella review summarizing the available evidence on the impact of TBs on healthcare outcomes and processes.

Methods
Pubmed and Web of Science databases were investigated along with a search through citations. The only study design included was systematic review. Only reviews published after 1997 concerning TBs and performed in hospital settings were considered. Two researchers synthetized the studies and assessed their quality through the AMSTAR2 tool.

Results
Five systematic reviews published between 2008 and 2017 were retrieved. One review was focused on gastrointestinal cancers and included 16 studies; another one was centered on lung cancer and included 16 studies; the remaining three studies considered a wide range of tumors and included 27, 37 and 51 studies each. The main characteristics about format and members and the definition of TBs were collected. The decisions taken during TBs led to changes in diagnosis (probability to receive a more accurate assessment and staging), treatment (usually more appropriate) and survival (not unanimous improvement shown). Other outcomes less highlighted were quality of life, satisfaction and waiting times.

Conclusions
The study showed that the multidisciplinary approach is the best way to deliver the complex care needed by cancer patients; however, it is a challenge that requires organizational and cultural changes and must be led by competent health managers who can improve teamwork within their organizations. Further studies are needed to reinforce existing literature concerning health outcomes. Evidence on the impact of TBs on clinical practices is still lacking for many aspects of cancer care. Further studies should aim to evaluate the impact on survival rates, quality of life and patient satisfaction. Regular studies should be carried out and new process indicators should be defined to assess the impact and the performance of TBs more consistently.
Mutations of BRCA2 in canine mammary tumors and their targeting potential in clinical therapy
Authors: Thumser-Henner Pauline , Nytko Katarzyna J. , Rohrer Bley Carla 
Published: January 2020

AbstractDogs develop cancer spontaneously with age, with breed-specific risk underlying differences in genetics. Mammary tumors are reported as the most frequent neoplasia in intact female dogs. Their high prevalence in certain breeds suggests a genetic component, as it is the case in human familial breast cancer, distinctly in BRCA2-associated cancers. However, the molecular genetics of BRCA2 in the pathogenesis of canine cancer are still under investigation.Genetic variations of canine BRCA2 comprised single nucleotide polymorphisms, insertions and deletions. The BRCA2 level has been shown to be reduced in tumor gland samples, suggesting that low expression of BRCA2 is contributing to mammary tumor development in dogs. Additionally, specific variations of the BRCA2 gene affect RAD51 binding strength, critically damage the BRCA2-RAD51 binding and further provoke a defective repair. In humans, preclinical and clinical data revealed a synthetic lethality interaction between BRCA2 mutations and PARP inhibition. PARP inhibitors are successfully used to increase chemo- and radiotherapy sensitivity, although they are also associated with numerous side effects and acquired resistance. Cancer treatment of canine patients could benefit from increased chemo- and radiosensitivity, as their cancer therapy protocols usually include only low doses of drugs or radiation. Early investigations show tolerability of iniparib in dogs. PARP inhibitors also imply higher therapy costs and consequently are less likely to be accepted by pet owners.We summarized the current evidence of canine BRCA2 gene alterations and their association with mammary tumors. Mutations in the canine BRCA2 gene have the potential to be exploited in clinical therapy through the usage of PARP inhibitors. However, further investigations are needed before introducing PARP inhibitors in veterinary clinical practice.