bluuebunny/crossref_metadata_2025 huggingface dataset:
Asymptomatic-anaplasmosis confirmation using genetic and serological tests and possible coinfection with spotted fever group Rickettsia: a case report
Authors: Yoo Jiyeon , Chung Jong-Hoon , Kim Choon-Mee , Yun Na Ra , Kim Dong-Min
Published: June 2020

Background

Anaplasmosis is an emerging acute febrile disease that is caused by a bite of an Anaplasma phagocytophilum–infected hard tick. As for healthy patients, reports on asymptomatic anaplasmosis resulting from such tick bites are rare.

Case presentation

A 55-year-old female patient visited the hospital with a tick bite in the right infraclavicular region. The tick was suspected to have been on the patient for more than 10 days. PCR and an indirect immunofluorescence assay (IFA) were performed to identify tick-borne infectious diseases. The blood sample collected at admission yielded a positive result in nested PCR targeting Ehrlichia- or Anaplasma-specific genes groEL and ankA. Subsequent sequencing confirmed the presence of A. phagocytophilum, and seroconversion was confirmed by the IFA involving an A. phagocytophilum antigen slide. PCR detected no Rickettsia-specific genes [outer membrane protein A (ompA) or surface cell antigen 1 (sca1)], but seroconversion of spotted fever group (SFG) rickettsiosis was confirmed by an IFA.

Conclusions

This study genetically and serologically confirmed an asymptomatic A. phagocytophilum infection. Although SFG rickettsiosis was not detected genetically, it was detected serologically. These findings indicate the possibility of an asymptomatic coinfection: anaplasmosis plus SFG rickettsiosis. It is, therefore, crucial for clinicians to be aware of potential asymptomatic anaplasmosis following a tick bite.
A systematic review of the role of eculizumab in systemic lupus erythematosus-associated thrombotic microangiopathy
Authors: Wright Rachael D. , Bannerman Fariba , Beresford Michael W. , Oni Louise
Published: June 2020

Background

Lupus nephritis (LN) is a severe consequence of systemic lupus erythematosus (SLE) that affects approximately 40% of patients. Pathogenic immune complexes that are characteristic of LN deposit in the kidney and activate immune mediated pathways including the complement system. Complete remission rates in LN are approximately 44% highlighting the need for new treatment strategies in these patients. Eculizumab is a fully humanised IgG2/IgG4 monoclonal antibody directed at C5 and thus prevents the formation of the terminal complement complex. Eculizumab is successfully used in atypical haemolytic uraemic syndrome (aHUS) and paroxysomal nocturnal haemoglobinuria (PNH) but it is not standardly used in LN. The aim of this project was to determine whether there is any role for eculizumab as adjunctive therapy in LN.

Methods

Using a predefined search strategy on Ovid MEDLINE and EMBASE the literature was reviewed systematically to identify studies in which eculizumab had been used to treat patients with SLE. All patients were included that were treated with complement inhibitors. Favourable outcome in this study was defined as resolution of symptoms that led to treatment, discharge from hospital or recovery of renal function. Patients were excluded if there was no outcome data or if complement inhibition was unrelated to their SLE.

Results

From 192 abstracts screened, 14 articles were identified, involving 30 patients. All SLE patients administered eculizumab were treated for thrombotic microangiopathy (TMA) secondary to LN diagnosed either histologically (66%) or as part of a diagnosis of aHUS (73%). 93% of patients had a favourable outcome in response to eculizumab treatment, of which 46% had a favourable outcome and successfully stopped treatment without relapse in symptoms during a median follow up of 7 months. Three patients (10%) reported adverse outcomes related to eculizumab therapy.

Conclusions

Scientific evidence supports the involvement of complement in the pathogenesis of LN however the role of complement inhibition in clinical practice is limited to those with TMA features. This systematic review showed that in cases of LN complicated with TMA, eculizumab seems to be a very efficacious therapy. Further evidence is required to determine whether patients with refractory LN may benefit from adjunctive complement inhibition.
Short-echo-time magnitude image derived from quantitative susceptibility mapping could resemble neuromelanin-sensitive MRI image in substantia nigra
Authors: Liu Xue Ling , Yang Li Qin , Liu Feng Tao , Wu Pu-Yeh , Zhang Yong , Zhuang Han , Shi Yong Hong , Wang Jian , Geng Dao Ying , Li Yu Xin
Published: June 2020

Background

In this study, we explored whether the proposed short-echo-time magnitude (setMag) image derived from quantitative susceptibility mapping (QSM) could resemble NM-MRI image in substantia nigra (SN), by quantitatively comparing the spatial similarity and diagnosis performances for Parkinson’s disease (PD).

Methods

QSM and NM-MRI were performed in 18 PD patients and 15 healthy controls (HCs). The setMag images were calculated using the short-echo-time magnitude images. Bilateral hyperintensity areas of SN (SNhyper) were manually segmented on setMag and NM-MRI images by two raters in a blinded manner. The inter-rater reliability was evaluated by the intraclass correlation coefficients (ICC) and the Dice similarity coefficient (DSC). Then the inter-modality (i.e. setMag and NM-MRI) spatial similarity was quantitatively assessed using DSC and volume of the consensual voxels identified by both of two raters. The performances of mean SNhyper volume for PD diagnosis on setMag and NM-MRI images were evaluated using receiver operating characteristic (ROC) analysis.

Results

The SNhyper segmented by two raters showed substantial to excellent inter-rater reliability for both setMag and NM-MRI images. The DSCs of SNhyper between setMag and NM-MRI images showed substantial to excellent voxel-wise overlap in HCs (0.80 ~ 0.83) and PD (0.73 ~ 0.76), and no significant difference was found between the SNhyper volumes of setMag and NM-MRI images in either HCs or PD (p > 0.05). The mean SNhyper volume was significantly decreased in PD patients in comparison with HCs on both setMag images (77.61 mm3 vs 95.99 mm3, p < 0.0001) and NM-MRI images (79.06 mm3 vs 96.00 mm3, p < 0.0001). Areas under the curve (AUCs) of mean SNhyper volume for PD diagnosis were 0.904 on setMag and 0.906 on NM-MRI images. No significant difference was found between the two curves (p = 0.96).

Conclusions

SNhyper on setMag derived from QSM demonstrated substantial spatial overlap with that on NM-MRI and provided comparable PD diagnostic performance, providing a new QSM-based multi-contrast imaging strategy for future PD studies.
Women’s experiences of planning a vaginal birth after caesarean in different models of maternity care in Australia
Authors: Keedle Hazel , Peters Lilian , Schmied Virginia , Burns Elaine , Keedle Warren , Dahlen Hannah Grace
Published: June 2020

Background

Vaginal birth after caesarean (VBAC) is a safe mode of birth for most women but internationally VBAC rates remain low. In Australia women planning a VBAC may experience different models of care including continuity of care (CoC). There are a limited number of studies exploring the impact and influence of CoC on women’s experiences of planning a VBAC. Continuity of care (CoC) with a midwife has been found to increase spontaneous vaginal birth and decrease some interventions. Women planning a VBAC prefer and benefit from CoC with a known care provider. This study aimed to explore the influence, and impact, of continuity of care on women’s experiences when planning a VBAC in Australia.

Methods

The Australian VBAC survey was designed and distributed via social media. Outcomes and experiences of women who had planned a VBAC in the past 5 years were compared by model of care. Standard fragmented maternity care was compared to continuity of care with a midwife or doctor.

Results

In total, 490 women completed the survey and respondents came from every State and Territory in Australia. Women who had CoC with a midwife were more likely to feel in control of their decision making and feel their health care provider positively supported their decision to have a VBAC. Women who had CoC with a midwife were more likely to have been active in labour, experience water immersion and have an upright birthing position. Women who received fragmented care experienced lower autonomy and lower respect compared to CoC.

Conclusion

This study recruited a non-probability based, self-selected, sample of women using social media. Women found having a VBAC less traumatic than their previous caesarean and women planning a VBAC benefited from CoC models, particularly midwifery continuity of care. Women seeking VBAC are often excluded from these models as they are considered to have risk factors. There needs to be a focus on increasing shared belief and confidence in VBAC across professions and an expansion of midwifery led continuity of care models for women seeking a VBAC.
Measuring early childhood development with The Early Human Capability Index (eHCI): a reliability and validity study in China
Authors: Zhao Jin , Brinkman Sally Anne , Zhang Yunting , Song Yingquan , Lu Chunling , Young Mary Eming , Zhang Yue , Ip Patrick , Shan Wenjie , Jiang Fan
Published: June 2020

Background

With the importance of early childhood development more recognized by the international society, low-cost and cross-culturally comparable measures of early childhood development is in great demand, both in China and worldwide. In this study, we aim to test the psychometrics of the Chinese version of The Early Human Capability Index (eHCI), which is designed as a measurement for school readiness in large population.

Methods

We evaluated the internal consistency, test-retest reliability, inter-rater reliability, factor structure, criterion-related validity, and discriminant validity of the eHCI in 20,324 preschool children in Shanghai. We also compared eHCI scores with test result of ASQ in 815 children in Yexian and EAP-ECDS in 6947 children in Daming.

Results

The ICC between parents and teachers were 0.83 and 0.63 for Literacy Numeracy and Overall Development. The confirmatory factor analyses showed good model fit (χ2 = 509,323, p < 0.001; CFI = 0.901; RMSEA = 0.038). The correlations between the scores of eHCI and other ECD metrics ranged between r = − 0.42 and r = 0.53. The scale discriminated between children’s developmental level based on sex, parental education, family income, family assets, and nutrition status.

Conclusions

Results from Chinese population suggested that eHCI is valid and reliable for measuring early childhood development in children aged 3–6 years. The eHCI can be applied to map the global distribution of early childhood development for allocating scarce resources to help those in greatest demand. Longitudinal studies are warranted to test its predictive validity for later outcomes.
Relationships of internet gaming reasons to biological indicators and risk of internet gaming addiction in Korean adolescent male game users
Authors: Kim Nahyun , Kim Mi Ja , Hughes Tonda L. , Kwak Hyeweon , Kong In Deok
Published: June 2020

Background

There are no standard diagnostic criteria or interventions for internet gaming addiction (IGA) even though IGA is one of the most pervasive public health issues among youth worldwide. Internet gaming reasons or motivations have been studied as a potential predictor of IGA, but the results have been inconsistent and biological indicators of gaming reasons have rarely been studied. We sought to (1) identify categories of internet gaming reasons, (2) examine the relationship of gaming reasons to risk of IGA, and (3) describe biological indicators associated with reasons for gaming.

Methods

We used a multi-phase cross-sectional design including individual interviews; focus group discussion; and descriptive, comparative analysis. Fifteen Korean adolescent male internet gamers participated in individual interviews and eight participated in a focus group aimed at identifying reasons for internet gaming. Using the identified gaming reasons from these sources we surveyed 225 adolescent game users using a self-report questionnaire. Participants provided blood samples for assessment of norepinephrine (NE) and serum cortisol.

Results

We identified four major categories of internet gaming reasons: entertainment, getting along with friends, stress relief, and habitual gaming. The habitual group showed significantly greater risk of IGA than the other groups (p < .001) and the lowest plasma NE levels (p = .035), possibly indicating an alteration in autonomic function.

Conclusion

Health care providers are encouraged to screen adolescents for excessive internet gaming and to intervene with those who report habitual gaming behaviors. When feasible, assessment of biological indicators, such as plasma NE, may help to identify youth at greatest risk of IGA.
A case of co-occuring synesthesia, autism, prodigious talent and strong structural brain connectivity
Authors: Riedel Andreas , Maier Simon , Wenzler Kerstin , Feige Bernd , Tebartz van Elst Ludger , Bölte Sven , Neufeld Janina
Published: June 2020

Background

Synesthesia is a sensory phenomenon where certain domain-specific stimuli trigger additional sensations of e.g. color or texture. The condition occurs in about 4% of the general population, but is overrepresented in individuals with Autism Spectrum Disorder (ASD), where it might also be associated with the presence of prodigious talents.

Case presentation

Here we describe the case of a young transsexual man with Asperger Syndrome, synesthesia and a prodigious talent for foreign language acquisition. In our case, not only letters, numbers, spoken words, music, noises, weekdays and months lead to highly consistent, vivid color sensations but also his own and others’ emotions, geometric shapes, any mathematical symbol, and letters from an unfamiliar alphabet (Hebrew). These color associations seem to aid categorization, differentiation and storage of information and might thereby contribute to the young man’s language acquisition ability. We investigated the young man’s structural brain connectivity in comparison to adults with or without ASD, applying global fiber tracking to diffusion-weighted Magnetic Resonance Imaging (MRI) data. The case presented with increased connectivity, especially between regions involved in visual and emotion processing, memory, and higher order associative binding regions. An electroencephalography experiment investigating synesthetic color and shape sensations while listening to music showed a negligible occipital alpha suppression, indicating that these internally generated synesthetic sensations derive from a different brain mechanism than when processing external visual information.

Conclusions

Taken together, this case study endorses the notion of a link between synesthesia, prodigious talent and autism, adding to the currently still sparse literature in this field. It provides new insights into the possible manifestations of synesthesia in individuals with ASD and its potential contribution to prodigious talents in people with an otherwise unexceptional cognitive profile. Additionally, this case impressively illustrates how synesthesia can be a key element not only of sensory perception but also social and emotional processing and contributes to existing evidence of increased brain connectivity in association with synesthesia.
A systematic review of validated screening tools for anxiety disorders and PTSD in low to middle income countries
Authors: Mughal Anisa Y. , Devadas Jackson , Ardman Eric , Levis Brooke , Go Vivian F. , Gaynes Bradley N.
Published: June 2020

Background

Anxiety and post-traumatic stress disorder (PTSD) contribute significantly to disability adjusted life years in low- to middle-income countries (LMICs). Screening has been proposed to improve identification and management of these disorders, but little is known about the validity of screening tools for these disorders. We conducted a systematic review of validated screening tools for detecting anxiety and PTSD in LMICs.

Methods

MEDLINE, EMBASE, Global Health and PsychINFO were searched (inception-April 22, 2020). Eligible studies (1) screened for anxiety disorders and/or PTSD; (2) reported sensitivity and specificity for a given cut-off value; (3) were conducted in LMICs; and (4) compared screening results to diagnostic classifications based on a reference standard. Screening tool, cut-off, disorder, region, country, and clinical population were extracted for each study, and we assessed study quality. Accuracy results were organized based on screening tool, cut-off, and specific disorder. Accuracy estimates for the same cut-off for the same screening tool and disorder were combined via meta-analysis.

Results

Of 6322 unique citations identified, 58 articles including 77 screening tools were included. There were 46, 19 and 12 validations for anxiety, PTSD, and combined depression and anxiety, respectively. Continentally, Asia had the most validations (35). Regionally, South Asia (11) had the most validations, followed by South Africa (10) and West Asia (9). The Kessler-10 (7) and the Generalized Anxiety Disorder-7 item scale (GAD-7) (6) were the most commonly validated tools for anxiety disorders, while the Harvard Trauma Questionnaire (3) and Posttraumatic Diagnostic Scale (3) were the most commonly validated tools for PTSD. Most studies (29) had the lowest quality rating (unblinded). Due to incomplete reporting, we could meta-analyze results from only two studies, which involved the GAD-7 (cut-off ≥10, pooled sensitivity = 76%, pooled specificity = 64%).

Conclusion

Use of brief screening instruments can bring much needed attention and research opportunities to various at-risk LMIC populations. However, many have been validated in inadequately designed studies, precluding any general recommendation for specific tools in LMICs. Locally validated screening tools for anxiety and PTSD need further evaluation in well-designed studies to assess whether they can improve the detection and management of these common disorders.

Trial registration

PROSPERO registry number CRD42019121794.
Establishing the efficacy of interventions to improve health literacy and health behaviours: a systematic review
Authors: Walters Ronie , Leslie Stephen J. , Polson Rob , Cusack Tara , Gorely Trish
Published: June 2020

Background

The primary aim of this review was to establish whether health literacy interventions, in adults, are effective for improving health literacy. Two secondary aims assessed the impact of health literacy interventions on health behaviours and whether health literacy interventions have been conducted in cardiovascular patients.

Methods

A systematic review (Prospero registration: CRD42018110772) with no start date running through until April 2020. Eligible studies were conducted in adults and included a pre/post measure of health literacy. Medline, Embase, Eric, PsychINFO, CINAHL, Psychology and Behavioural Science, HMIC, Web of Science, Scopus, Social Care Online, NHS Scotland Journals, Social Policy and Practice, and Global Health were searched. Two thousand one hundred twenty-seven papers were assessed, and 57 full text papers screened to give 22 unique datasets from 23 papers. Risk of bias was assessed regarding randomisation, allocation sequence concealment, blinding, incomplete outcome data, selective outcome reporting and other biases. Intervention reporting quality was assessed using the TIDieR checklist.

Results

Twenty-two studies were included reporting on 10,997 participants in nine countries. The majority of studies (14/22) were published in 2018 or later. Eight studies (n = 1268 participants) also reported on behavioural outcomes. Health literacy interventions resulted in improvements in at least some aspect of health literacy in 15/22 studies (n = 10,180 participants) and improved behavioural outcomes in 7/8 studies (n = 1209 participants). Only two studies were conducted with cardiovascular patients. All studies were at risk of bias with 18 judged as high risk. In addition, there was poor reporting of intervention content with little explication of the theoretical basis for the interventions.

Conclusions

Health literacy interventions can improve health literacy and can also lead to changes in health behaviours. Health literacy interventions offer a way to improve outcomes for populations most at risk of health inequalities. Health literacy is a developing field with very few interventions using clear theoretical frameworks. Closer links between health literacy and behaviour change theories and frameworks could result in higher quality and more effective interventions.

Prospero registration

Prospero registration: CRD42018110772
Health workers’ outreach and intention to use contraceptives among married women in India
Authors: Kumar Abhishek , Jain Anrudh K. , Ram Faujdar , Acharya Rajib , Shukla Ankita , Mozumdar Arupendra , Saggurti Niranjan
Published: June 2020

Background

The influence of health workers on uptake of maternal healthcare services is well documented; however, their outreach for family planning (FP) services and influence on the intention to use contraceptives is less explored in the Indian context. This study examined the extent of health worker outreach for FP service and its effects on intention to use contraceptives among currently married women aged 15–49 years.

Methods

This study used data from two rounds of the National Family Health Survey (NFHS) of India, conducted during 2005–06 and 2015–16 respectively. Bivariate analysis and multivariate logistic regression were used to understand the level of and change in health worker outreach for FP services over time, and its association with intention to use contraceptives among currently married women.

Results

In the past 10 years, health workers’ outreach for FP service has significantly increased by about 10 percentage points, although the level is not optimal and only 28% of non-users were reached by health workers in 2015–16. Increase in the outreach to younger and low parity women was higher than their respective counterparts. Intention to use contraceptive among women who were not using any method was 41% when health workers contacted and discussed FP, compared to only 20% when there was no such contact with health workers. Multivariable analysis suggests that contact with health workers has significant positive effects on intention to use contraceptive (AOR = 3.05; p < 0.001; 95% CI 2.85–3.27).

Conclusion

Increased scope of outreach of frontline health workers to provide FP communication and services will not only help in building knowledge of contraceptive methods but will also increase women’s intention to use a method. For India, this may be the most promising way to achieve the Sustainable Development Goals 3.7, which calls for universal access to reproductive health services.
The study protocol for a pseudo-randomised pre-post designed controlled intervention trial to study the effects of a 7-week cooking program on self-efficacy and biomarkers of health: the ECU lifestyle and biomarkers get connected study (ECULABJMOF) including the Jamie’s Ministry of Food WA participant experience
Authors: Rees Joanna , Christophersen Claus C. , Lewis Joshua R. , Lo Johnny , Sambell Ros , Costello Leesa , Walker Cailyn , Byrne Matt F. , Boyce Mary C. , Newton Robert U. , Devine Amanda
Published: June 2020

Background

Australia, like other nations, has experienced a shift in dietary patterns away from home cooking of nutritious foods, towards a reliance on pre-prepared convenience meals. These are typically energy-dense, nutrient-poor and contribute to the rising prevalence of obesity and chronic disease burden. The aims of this study were to evaluate whether a community-based cooking program instigated a change to participants’ skills, attitudes, knowledge, enjoyment and satisfaction of cooking and cooking confidence (self-efficacy).

Methods

The pseudo-random, pre-post study design consisted of an intervention and a control group. Participant recruitment and group allocation was based on their program start dates. Intervention participants were surveyed three times (baseline, 7 weeks and 6 months) and the control group were surveyed at baseline and 5 weeks. All participants were registered via an online website and were 18 years or over. Upon consent, participants were offered four levels of commitment, defined by different assessments. The minimum participation level included an online survey and levels 2, 3 and 4 involved attendance at a clinic with increasing functional, anthropometric and biomarker measurements. Primary endpoints were participants’ cooking confidence as a proxy for self-efficacy. Secondary endpoints were dietary intake, physical activity levels, body composition, anthropometry, blood, urine and faecal biomarkers of systemic, physical and mental health.

Discussion

The community cooking program provided participants with information and advice on food sourcing, preparation and nutrition to improve home cooking skills. The study was designed to explore whether food literacy programs are efficacious in improving participant physical health and well-being in order to combat the rise in obesity and diet-related disease. It will support future use of public health cooking program initiatives aimed at improving food literacy, self-efficacy and physical and mental health. The extensive data collected will inform future research into the relationship between diet, the gut-microbiota and human health.

Trial registration

Retrospectively registered on 16.08.2019 with the Australian New Zealand Clinical Trials Registry (ANZCTR). ACTRN12619001144101.

Protocol version 4.
Surgical intra- and extra-articular anterior cruciate ligament reconstruction: a meta-analysis
Authors: Cheng Xiangyun , Liu Fanxiao , Zhou Dongsheng , Paulus Alexander C.
Published: June 2020

Background

It is still controversial whether the combination of anterior cruciate ligament (ACL) reconstruction and extra-articular reconstruction (EAR) have good clinical efficacy. This meta-analysis aims systematically to compare the clinical effectiveness of ACL reconstruction and combined reconstruction.

Methods

Electronic databases, including Medline/PubMed, Embase and the Cochrane Library, were systematically searched to identify targeted studies. A meta-analysis were performed to pool the outcome estimates of interest, such as the Lysholm, International Knee Documentation Committee (IKDC) and Tegner scores and the results from the KT-1000/2000 arthrometer test, the Lachman test and the pivot shift test.

Results

Twelve studies involving 1146 knees were identified. Compared with single ACL reconstruction, combined reconstruction had better results for a pivot shift of grade 1 (relative ratio [RR] = 0.88, 95% CI: 0.83–0.94) and grade 2 (RR = 0.95, 95% CI: 0.91–0.99) rather than grade 3 (RR = 0.98, 95% CI: 0.90–1.06) and no statistically significant difference for both Lachman grade 1 (RR = 0.96, 95% CI: 0.89–1.05) and grade 2 (RR = 0.96, 95% CI: 0.90–1.03). Combined reconstruction resulted in significant improvements on the instrumented joint laxity test when considering a failure standard of more than 5 mm (a side-to-side arthrometric difference) (RR = 0.94, 95% CI: 0.89–0.98) rather than 3 mm (RR = 0.94, 95% CI: 0.86–1.03). Moreover, combined reconstruction increased the IKDC score at the 12-month (weighted mean difference [WMD] = − 6.38, 95% CI: − 9.66 to − 3.10), 24-month (WMD = − 5.60, 95% CI: − 8.54 to − 2.66) and 36-month follow-ups (WMD = − 4.71, 95% CI: − 7.59 to − 1.83) and the Tegner score at the 36-month follow-up (WMD = − 0.53, 95% CI: − 0.97 to − 0.09), but it did not increase the Lysholm score at the 36-month follow-up (WMD = − 0.84, 95% CI: − 2.02 to 0.34).

Conclusion

With the advances in reconstruction techniques, combined reconstructions were found to be effective in improving rotational stability and to lead to good functional scores. However, obviously, the combined reconstruction technique is more time-consuming and requires an additional incision, which is not suitable for all ACL-deficient patients. Therefore, programs should be personalized and customized for the specific situation of each patient.
The coexistence of hypercalcemia, osteoporosis and thymic enlargement in graves’ disease: a case report
Authors: Yan Dandan , Xu Yanjun , Li Lian-Xi
Published: June 2020

Background

Hyperthyroidism-induced hypercalcemia has been reported previously, but hypercalcemia accompanied by severe osteoporosis and significant thymic enlargement in patients with hyperthyroidism is quite rare. We report the coexistence of hypercalcemia, osteoporosis and thymic enlargement in a patient with Graves’ disease.

Case presentation

A 22-year-old female was diagnosed as Graves’ disease with obviously elevated serum calcium and reduced parathyroid hormone levels. Dual-energy x-ray absorptiometry and chest enhanced computer tomography (CT) revealed severe osteoporosis and a significant enlargement of thymus. After the successful control of hyperthyroidism with methimazole, hypercalcemia was corrected, bone mineral density was improved and thymus also shrank obviously.

Conclusion

This is a very rare case of hypercalcemia accompanied by severe osteoporosis and significant thymic enlargement induced by Graves’ disease. In clinical practice, examination of thymus and bone density should be considered when a patient with Graves’ disease was present with hypercalcemia.
Regional disparities in the flow of access to breast cancer hospitalizations in Brazil in 2004 and 2014
Authors: de Souza Beatriz Castro , dos Santos Figueiredo Francisco Winter , de Alcantara Sousa Luiz Vinicius , da Silva Maciel Erika , Adami Fernando
Published: June 2020

Background

Access to the diagnosis and treatment of breast cancer in Brazil is marked by immense inequalities in the provision of specialized assistance, which leads patients to seek treatment outside the place of residence. To evaluate the variations between 2004 and 2014 in the distribution of flow between place of residence and care, and the average distance traveled for treatment of breast cancer in the administrative regions and federal states of Brazil.

Method

Analysis of secondary data from the years 2004 and 2014, extracted from the Department of Informatics of the Unified Health System through the Hospital Information System. Data from Hospitalization Release Authorizations were collected, and the maps were created with TabWin 3.6 software. Descriptive analysis was performed on Stata® (StataCorp, LC) 11.0.

Results

In the total flow, it was observed that there was a decrease in referrals between 2004 and 2014 in most regions. In 2004 the main direction of flow was in the Midwest and Southeast regions. In 2014, however, the intensity of these admissions was centralized in the Southeast region. In relation to the average distance traveled, the North, Northeast, and Midwest regions had the highest values of displacement. Of the 27 federative units, 17 presented an increase in average distance between these periods.

Conclusion

Despite the improvement in the hospitalization of residents, in most regions and federal units, Brazilians still travel great distances when they require treatment for breast cancer.
Relational autonomy in end-of-life care ethics: a contextualized approach to real-life complexities
Authors: Gómez-Vírseda Carlos , de Maeseneer Yves , Gastmans Chris
Published: June 2020

Background

Respect for autonomy is a paramount principle in end-of-life ethics. Nevertheless, empirical studies show that decision-making, exclusively focused on the individual exercise of autonomy fails to align well with patients’ preferences at the end of life. The need for a more contextualized approach that meets real-life complexities experienced in end-of-life practices has been repeatedly advocated. In this regard, the notion of ‘relational autonomy’ may be a suitable alternative approach. Relational autonomy has even been advanced as a foundational notion of palliative care, shared decision-making, and advance-care planning. However, relational autonomy in end-of-life care is far from being clearly conceptualized or practically operationalized.

Main body

Here, we develop a relational account of autonomy in end-of-life care, one based on a dialogue between lived reality and conceptual thinking. We first show that the complexities of autonomy as experienced by patients and caregivers in end-of-life practices are inadequately acknowledged. Second, we critically reflect on how engaging a notion of relational autonomy can be an adequate answer to addressing these complexities. Our proposal brings into dialogue different ethical perspectives and incorporates multidimensional, socially embedded, scalar, and temporal aspects of relational theories of autonomy. We start our reflection with a case in end-of-life care, which we use as an illustration throughout our analysis.

Conclusion

This article develops a relational account of autonomy, which responds to major shortcomings uncovered in the mainstream interpretation of this principle and which can be applied to end-of-life care practices.
Genome assembly of the basket willow, Salix viminalis, reveals earliest stages of sex chromosome expansion
Authors: Almeida Pedro , Proux-Wera Estelle , Churcher Allison , Soler Lucile , Dainat Jacques , Pucholt Pascal , Nordlund Jessica , Martin Tom , Rönnberg-Wästljung Ann-Christin , Nystedt Björn , Berlin Sofia , Mank Judith E.
Published: June 2020

Background

Sex chromosomes have evolved independently multiple times in eukaryotes and are therefore considered a prime example of convergent genome evolution. Sex chromosomes are known to emerge after recombination is halted between a homologous pair of chromosomes, and this leads to a range of non-adaptive modifications causing gradual degeneration and gene loss on the sex-limited chromosome. However, the proximal causes of recombination suppression and the pace at which degeneration subsequently occurs remain unclear.

Results

Here, we use long- and short-read single-molecule sequencing approaches to assemble and annotate a draft genome of the basket willow, Salix viminalis, a species with a female heterogametic system at the earliest stages of sex chromosome emergence. Our single-molecule approach allowed us to phase the emerging Z and W haplotypes in a female, and we detected very low levels of Z/W single-nucleotide divergence in the non-recombining region. Linked-read sequencing of the same female and an additional male (ZZ) revealed the presence of two evolutionary strata supported by both divergence between the Z and W haplotypes and by haplotype phylogenetic trees. Gene order is still largely conserved between the Z and W homologs, although the W-linked region contains genes involved in cytokinin signaling regulation that are not syntenic with the Z homolog. Furthermore, we find no support across multiple lines of evidence for inversions, which have long been assumed to halt recombination between the sex chromosomes.

Conclusions

Our data suggest that selection against recombination is a more gradual process at the earliest stages of sex chromosome formation than would be expected from an inversion and may result instead from the accumulation of transposable elements. Our results present a cohesive understanding of the earliest genomic consequences of recombination suppression as well as valuable insights into the initial stages of sex chromosome formation and regulation of sex differentiation.
Transcriptomic profiling reveals disease-specific characteristics of epithelial cells in idiopathic pulmonary fibrosis
Authors: Boesch Maximilian , Baty Florent , Brutsche Martin H. , Tamm Michael , Roux Julien , Knudsen Lars , Gazdhar Amiq , Geiser Thomas , Khan Petra , Hostettler Katrin E.
Published: June 2020

Background

Idiopathic pulmonary fibrosis (IPF) is an incurable disease characterized by progressive lung fibrosis ultimately resulting in respiratory failure and death. Recurrent micro-injuries to the alveolar epithelium and aberrant alveolar wound healing with impaired re-epithelialization define the initial steps of the pathogenic trajectory. Failure of timely alveolar epithelial repair triggers hyper-proliferation of mesenchymal cells accompanied by increased deposition of extracellular matrix into the lung interstitium.

Methods

We previously isolated fibrosis-specific mesenchymal stem cell (MSC)-like cells from lung tissue of patients with interstitial lung diseases. These cells produced factors bearing anti-fibrotic potential and changed their morphology from mesenchymal to epithelial upon culture in an epithelial cell (EC)-specific growth medium. Here, we set out to molecularly characterize these MSC-like cell-derived ECs using global gene expression profiling by RNA-sequencing. Moreover, we aimed at characterizing disease-specific differences by comparing the transcriptomes of ECs from IPF and non-IPF sources.

Results

Our results suggest that differentially expressed genes are enriched for factors related to fibrosis, hypoxia, bacterial colonization and metabolism, thus reflecting many of the hallmark characteristics of pulmonary fibrosis. IPF-ECs showed enrichment of both pro- and anti-fibrotic genes, consistent with the notion of adaptive, compensatory regulation.

Conclusions

Our findings support the hypothesis of a functional impairment of IPF-ECs, which could possibly explain the poor clinical outcome of IPF that roughly compares to those of advanced-stage cancers. Our study provides a valuable resource for downstream mechanistic investigation and the quest for novel therapeutic IPF targets.
Acute exacerbations of COPD versus IPF in patients with combined pulmonary fibrosis and emphysema
Authors: Zantah Massa , Dotan Yaniv , Dass Chandra , Zhao Hauqing , Marchetti Nathaniel , Criner Gerard J.
Published: June 2020

Rationale

Patients with combined pulmonary fibrosis and emphysema (CPFE) may develop acute exacerbations of IPF (AE-IPF) or COPD (AE-COPD). The incidence and the characteristics of exacerbations in patients with CPFE (e.g., COPD vs IPF) have not been well described.

Objectives

To compare the incidence and rate of exacerbations in patients with CPFE vs. IPF and evaluate their effect on clinical outcomes.

Methods

Comprehensive clinical data from CPFE and IPF patients were retrospectively reviewed. Baseline characteristics including lung function data, oxygen requirements, and pulmonary hemodynamics, were collected. Acute exacerbation events in both groups were defined clinically and radiographically. In the CPFE group, two patterns of exacerbations were identified. AE-COPD was defined clinically by symptoms of severe airflow obstruction causing respiratory failure and requiring hospitalization. Radiographic data were also defined based on previously published literature. AE-IPF was defined clinically as an acute hypoxic respiratory failure, requiring hospitalization and treatment with high dose corticosteroids. Radiographically, patients had to have a change in baseline imaging including presence of ground-glass opacities, interlobular septal thickening or new consolidations; that is not fully explained by other etiologies.

Results

Eighty-five CPFE patients were retrospectively compared to 112 IPF patients. Of 112 patients with IPF; 45 had AE-IPF preceding lung transplant (40.18%) compared to 12 patients in the CPFE group (14.1%) (p < 0.05). 10 patients in the CPFE group experienced AE-COPD (11.7%). Patients with AE-IPF had higher mortality and more likely required mechanical ventilation and extracorporeal membrane oxygenation (ECMO) compared to patients with AE-COPD, whether their underlying disease was IPF or CPFE.

Conclusions

CPFE patients may experience either AE-IPF or AE-COPD. Patients with CPFE and AE-COPD had better outcomes, requiring less intensive therapy compared to patients with AE-IPF regardless if underlying CPFE or IPF was present. These data suggest that the type of acute exacerbation, AE-COPD vs AE-IPF, has important implications for the treatment and prognosis of patients with CPFE.
Systematic profiling of alternative splicing in Helicobacter pylori-negative gastric cancer and their clinical significance
Authors: Liu Chuan , Hu Chuan , Li Zhi , Feng Jing , Huang Jiale , Yang Bowen , Wen Ti
Published: June 2020

Background

Alternative splicing (AS) may cause structural and functional variations in the protein to promote the proliferation of tumor cells. However, there is no comprehensive analysis of the clinical significance of AS in Helicobacter pylori-negative gastric cancer (HP− GC).

Methods

The clinical, gene expression profile data and AS events of 138 HP− GC patients were obtained from the database named the cancer genome atlas. Differently expressed AS (DEAS) events were determined by a comparison of the PSI values between HP− GC samples and adjacent normal samples. Unsupervised clustering analysis, proportional regression and Kaplan–Meier analysis were used to explore the association between clinical data and immune features and to establish two nomograms about the prognosis of HP− GC. Finally, splicing networks were constructed using Cytoscape.

Results

A total of 48141 AS events and 1041 DEAS events were found in HP− GC. Various functions and pathways of DEAS events parent genes were enriched, such as cell-substrate junction, cell leading edge, focal adhension, and AMPK signaling. Seven overall survival (OS)-related and seven disease-free survival (DFS)-related AS events were used to construct the prognostic signatures. Based on the independent prognostic factors, two nomograms were established and showed excellent performance. Then, splicing regulatory networks among the correlations suggested that splicing factors were significantly associated with prognostic DEASs. Finally, the unsupervised clustering analysis revealed that DEAS-based clusters were associated with clinical characteristics, tumor microenvironment, tumor mutation burden, and immune features.

Conclusion

Seven OS-related and seven DFS-related AS events have been found to be correlated with the prognosis of HP− GC and can be used as prognostic factors to establish an effective nomogram.
Two-eyed seeing of the integration of oral health in primary health care in Indigenous populations: a scoping review
Authors: Shrivastava Richa , Couturier Yves , Girard Felix , Papineau Lucie , Emami Elham
Published: June 2020

Background

Indigenous people experience significant poor oral health outcomes and poorer access to oral health care in comparison to the general population. The integration of oral health care with primary health care has been highlighted to be effective in addressing these oral health disparities. Scoping studies are an increasingly popular approach to reviewing health research evidence. Two-eyed seeing is an approach for both Western and Indigenous knowledge to come together to aid understanding and solve problems. Thus, the two-eyed seeing theoretical framework advocates viewing the world with one eye focused on Indigenous knowledge and the other eye on Western knowledge. This scoping review was conducted to systematically map the available integrated primary oral health care programs and their outcomes in these communities using the two-eyed seeing concept.

Methods

This scoping review followed Arksey and O’Malley’s five-stage framework and its methodological advancement by Levac et al. A literature search with defined eligibility criteria was performed via several electronic databases, non-indexed Indigenous journals, Indigenous health organizational websites, and grey literature. The charted data was classified, analyzed, and reported using numeral summary and qualitative content analysis. The two-eyed seeing concept guided the interpretation and synthesis of the evidence on approaches and outcomes.

Results

A total of 29 publications describing 30 programs conducted in Australia and North America from 1972 to 2019 were included in the final analysis. The following four program categories emerged from the analysis: oral health promotion and prevention programs (n = 13), comprehensive dental services (n = 13), fly in, fly out dental services (n = 3), and teledentistry (n = 1). Biomedical approaches for integrated primary oral health care were leadership and governance, administration and funding, capacity building, infrastructure and technology, team work, and evidence-based practice. Indigenous approaches included the vision for holistic health, culturally appropriate services, community engagement, shared responsibility, and cultural safety. The program outcomes were identified for biological, mental, and emotional dimensions of oral health; however, measurement of the spiritual dimension was missing.

Conclusion

Our results suggest that a multiple integrated primary oral health care approach with a particular focus on Indigenous culture seems to be efficient and relevant in improving Indigenous oral health.
Quality of life assessment instruments for adults: a systematic review of population-based studies
Authors: Pequeno Nila Patrícia Freire , Cabral Natália Louise de Araújo , Marchioni Dirce Maria , Lima Severina Carla Vieira Cunha , Lyra Clélia de Oliveira
Published: June 2020

Background

Against a backdrop of population aging and improving survival rates for chronic noncommunicable diseases (CNCD), researchers are placing growing emphasis on health-related quality of life (HRQoL). The aim of this study was to identify the QoL assessment instruments used in population-based studies with adults conducted around the world.

Methods

A systematic review of original research published in all languages between 2008 and 2018 was conducted. Systematic reviews and meta-analyses were excluded.

Results

Sixty-three articles (38.1% conducted in the Americas) fitted the eligibility criteria. Based on the AHRQ checklist for cross-sectional studies and the Newcastle-Ottawa scale for cohort studies, methodological quality was shown to be fair in the majority of studies (55.6%) and good in 44.4%. The country with the highest number of publications was Brazil (20.6%). Twelve types of generic instruments and 11 specific instruments were identified. The generic instrument SF-36 was the most frequently used measure (33.3% of studies). In-home interviewing was exclusively used by 47.6% of the studies, while 39 studies (61.9%) reported the use of self-administered questionnaires. Over two-thirds of the studies (34.9%) used questionnaires to investigate the association between chronic diseases and/or associated factors.

Conclusions

It was concluded that the wide range of instruments and modes of questionnaire administration used by the studies may hinder comparisons between population groups with the same characteristics or needs. There is a lack of research on QoL and the factors affecting productive capacity. Studies of QoL in older persons should focus not only on the effects of disease and treatment, but also on the determinants of active aging and actions designed to promote it. Further research is recommended to determine which QoL instruments are best suited for population-based studies.