bluuebunny/crossref_metadata_2025_split huggingface dataset:
Health-related quality of life (EQ-5D + C) among people living in artisanal and small-scale gold mining areas in Zimbabwe: a cross-sectional study
Authors: Butscher Friederike-Marie , Rakete Stefan , Tobollik Myriam , Mambrey Viola , Moyo Dingani , Shoko Dennis , Muteti-Fana Shamiso , Steckling-Muschack Nadine , Bose-O’Reilly Stephan 
Published: August 2020

Abstract
Background
In Zimbabwe, an estimated 500,000 people work in the sector of artisanal and small-scale gold mining (ASGM). Two million Zimbabweans are dependent on this sector. Using mercury is common to extract gold from ore. Long term exposure to mercury can cause various adverse health conditions including chronic mercury intoxication. The influence of these adverse health effects on the health-related quality of life (HRQoL) is still unknown. The aim of this study is to assess the HRQoL of people who identify themselves as miners, and to analyze potential influencing factors, such as age, years of working with mercury and health conditions caused by mercury exposure.

Methods
This cross-sectional study assessed the HRQoL using the standardized EQ-5D + C (3 L) questionnaire and collected human specimens (blood, urine) of people living and possibly working in ASGM areas in Zimbabwe. Factors such as age, years of working with mercury and adverse health conditions possibly caused by mercury exposure were analyzed with regards to their influence on the HRQoL.

Results
The 207 participants (82% male, mean age 38 years) reported 40 different health states. Of the study participants 42.5% reported to be in complete good health while 57.5% reported being unwell in different ways. Nine participants (4.3%) were identified with chronic mercury intoxication, whereas 92 participants (33.3%) had mercury levels above the “Alert” threshold in at least one specimen. Having chronic mercury intoxication has a significant negative influence on the HRQoL, when taking into account age, gender and years of working with mercury. Cognitive problems were the most reported in the questionnaire, however, the association between this domain separately and the HRQoL was not verified.

Conclusion
This study shows that adverse health effects caused by chronic exposure to mercury, have a negative influence on the HRQoL among people living in ASGM areas.
Does Sars-Cov-2 threaten our dreams? Effect of quarantine on sleep quality and body mass index
Authors: Barrea Luigi , Pugliese Gabriella , Framondi Lydia , Di Matteo Rossana , Laudisio Daniela , Savastano Silvia , Colao Annamaria , Muscogiuri Giovanna 
Published: August 2020

Abstract
Background
COVID 19-related quarantine led to a sudden and radical lifestyle changes, in particular in eating habits. Objectives of the study were to investigate the effect of quarantine on sleep quality (SQ) and body mass index (BMI), and if change in SQ was related to working modalities.

Materials
We enrolled 121 adults (age 44.9 ± 13.3 years and 35.5% males). Anthropometric parameters, working modalities and physical activity were studied. Sleep quality was evaluated by the Pittsburgh Sleep Quality Index (PSQI) questionnaire. At baseline, the enrolled subjects were assessed in outpatient clinic and after 40 days of quarantine/lockdown by phone interview.

Results
Overall, 49.6% of the subjects were good sleepers (PSQI < 5) at the baseline and significantly decreased after quarantine (p < 0.001). In detail, sleep onset latency (p < 0.001), sleep efficiency (p = 0.03), sleep disturbances (p < 0.001), and daytime dysfunction (p < 0.001) significantly worsened. There was also a significant increase in BMI values in normal weight (p = 0.023), in subjects grade I (p = 0.027) and II obesity (p = 0.020). In all cohort, physical activity was significantly decreased (p = 0.004). However, analyzing the data according gender difference, males significantly decreased physical activity as well as females in which there was only a trend without reaching statistical significance (53.5% vs 25.6%; p = 0.015 and 50.0% vs 35.9%, p = 0.106; in males and females, respectively). In addition, smart working activity resulted in a significant worsening of SQ, particularly in males (p < 0.001).

Conclusions
Quarantine was associated to a worsening of SQ, particularly in males doing smart working, and to an increase in BMI values.
Novel design for a dynamic ankle foot orthosis with motion feedback used for training in patients with hemiplegic gait: a pilot study
Authors: Hsu Chih-Chao , Huang Yin-Kai , Kang Jiunn-Horng , Ko Yi-Feng , Liu Chia-Wei , Jaw Fu-Shan , Chen Shih-Ching 
Published: August 2020

Abstract
Background
We designed a novel ankle foot orthosis (AFO), namely, ideal training AFO (IT-AFO), with motion feedback on the hemiparetic lower limb to improve ambulation in individuals with stroke-related hemiplegia. We, therefore sought to compare the kinematic parameters of gait between IT-AFO with and without dynamic control and conventional anterior-type AFO or no AFO.

Methods
Gait parameters were measured using the RehaWatch® system in seven individuals with hemiplegia (mean 51.14 years). The parameters were compared across four conditions: no AFO, conventional anterior AFO, IT-AFO without dynamic control, and IT-AFO with dynamic control, with three trials of a 10-m walk test for each.

Results
The dorsiflexion angle increased during the swing phase when the IT-AFO was worn, and it was larger with dynamic control. These data can confirm drop foot improvement; however, the difference between the parameters with- and without-AFO control conditions was not significant in the swing phase. The IT-AFO with or without dynamic control enhanced the loading response to a greater extent between the hemiparetic and unaffected lower limbs than conventional AFO or no AFO. The duration of the stance phase on the hemiparetic lower limb was also longer when using IT-AFO with and without dynamic control than that when using conventional AFO, which improved asymmetry. User comfort and satisfaction was greater with IT-AFO than with the other conditions.

Conclusions
The IT-AFO with dynamic control improved gait pattern and weight shifting to the hemiparetic lower limb, reducing gait asymmetry. The difference with and without dynamic control of IT-AFO is not statistically significant, and it is limited by sample size. However, this study shows the potential of IT-AFO in applying positive motion feedback with gait training.

Trial registration
Taipei Medical University-Joint Institutional Review Board. N201510010. Registered 12 February 2015. http://ohr.tmu.edu.tw/main.php.
Implementation outcome instruments for use in physical healthcare settings: a systematic review
Authors: Khadjesari Zarnie , Boufkhed Sabah , Vitoratou Silia , Schatte Laura , Ziemann Alexandra , Daskalopoulou Christina , Uglik-Marucha Eleonora , Sevdalis Nick , Hull Louise 
Published: August 2020

AbstractBackgroundImplementation research aims to facilitate the timely and routine implementation and sustainment of evidence-based interventions and services. A glaring gap in this endeavour is the capability of researchers, healthcare practitioners and managers to quantitatively evaluate implementation efforts using psychometrically sound instruments. To encourage and support the use of precise and accurate implementation outcome measures, this systematic review aimed to identify and appraise studies that assess the measurement properties of quantitative implementation outcome instruments used in physical healthcare settings.MethodThe following data sources were searched from inception to March 2019, with no language restrictions: MEDLINE, EMBASE, PsycINFO, HMIC, CINAHL and the Cochrane library. Studies that evaluated the measurement properties of implementation outcome instruments in physical healthcare settings were eligible for inclusion. Proctor et al.’s taxonomy of implementation outcomes was used to guide the inclusion of implementation outcomes: acceptability, appropriateness, feasibility, adoption, penetration, implementation cost and sustainability. Methodological quality of the included studies was assessed using the COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) checklist. Psychometric quality of the included instruments was assessed using the Contemporary Psychometrics checklist (ConPsy). Usability was determined by number of items per instrument.ResultsFifty-eight publications reporting on the measurement properties of 55 implementation outcome instruments (65 scales) were identified. The majority of instruments assessed acceptability (n= 33), followed by appropriateness (n= 7), adoption (n= 4), feasibility (n= 4), penetration (n= 4) and sustainability (n= 3) of evidence-based practice. The methodological quality of individual scales was low, with few studies rated as ‘excellent’ for reliability (6/62) and validity (7/63), and both studies that assessed responsiveness rated as ‘poor’ (2/2). The psychometric quality of the scales was also low, with 12/65 scales scoring 7 or more out of 22, indicating greater psychometric strength. Six scales (6/65) rated as ‘excellent’ for usability.ConclusionInvestigators assessing implementation outcomes quantitatively should select instruments based on their methodological and psychometric quality to promote consistent and comparable implementation evaluations. Rather than developing ad hoc instruments, we encourage further psychometric testing of instruments with promising methodological and psychometric evidence.Systematic review registrationPROSPERO 2017CRD42017065348
Trauma system developments reduce mortality in hospitalized trauma patients in Al-Ain City, United Arab Emirates, despite increased severity of injury
Authors: Alao David O. , Cevik Arif Alper , Eid Hani O. , Jummani Zia , Abu-Zidan Fikri M. 
Published: August 2020

AbstractBackgroundTrauma is a leading cause of death in the United Arab Emirates (UAE). There have been major developments in the trauma system in Al-Ain City during the last two decades. We aimed to study the effects of these developments on the trauma pattern, severity, and clinical outcome of hospitalized trauma patients in Al-Ain City, United Arab Emirates.MethodsThis is a retrospective analysis of two separate sets of prospectively collected trauma registry data of Al-Ain Hospital. Data were collected over two periods: from March 2003 to March 2006 and from January 2014 to December 2017. Demography, injury mechanism, injury location, and clinical outcomes of 2573 trauma patients in the first period were compared with 3519 patients in the second period.ResultsTrauma incidence decreased by 38.2% in Al-Ain City over the last 10 years. Trauma to females, UAE nationals, and the geriatric population significantly increased over time (p< 0.0001, Fisher’s exact test for each). Falls on the same level significantly increased over time, while road traffic collisions and falls from height significantly decreased over time (p< 0.0001, Fisher’s exact test for each). Mortality significantly decreased over time (2.3% compared with 1%,p< 0.0001, Fisher’s exact test).ConclusionsDevelopments in the trauma system of our city have reduced mortality in hospitalized trauma patients by 56% despite an increased severity of injury. Furthermore, the injury incidence in our city decreased by 38.2% over the last decade. This was mainly in road traffic collisions and work-related injuries. Nevertheless, falls on the same level in the geriatric population continue to be a significant problem that needs to be addressed.
Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics
Authors: Gariani Karim , Nascimento Marina , Superti-Furga Andrea , Tran Christel 
Published: August 2020

AbstractBackgroundInherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults with IMD has emerged as a new and challenging reality. This purpose of this study of adults with IMD in an adult metabolic clinic at two academic hospitals (Lausanne and Geneva) was to help inform decisions on the future organization of health care for this group of patients.MethodsAll adult patients with a biochemical and/or genetic diagnosis of IMD followed at the clinics were included in the study. Electronic patient records were reviewed for clinical features, diagnostic studies, treatment and long-term outcome. Data of undiagnosed patients referred for suspected IMD were analyzed separately.Results126 patients were included in the study. The most prevalent group of diseases was small molecules disorders with 82 (65%) patients, followed by energy defects disorders with 29 (23%) patients and complex molecules disorders with 15 (12%) patients. Overall, 64% of patients were diagnosed before, and 36% after the age 16 years. Among the 126 cases, 51% suffered from medical complications. 79% of the patients were receiving a specific treatment for their disease. Among the 138 undiagnosed patients referred for suspicion of IMD, investigations lead to a genetic diagnosis in 24 (17%) patients. 19 had confirmation of an IMD, 5 were found to have another genetic condition.ConclusionsThis retrospective study reveals significant features of adult IMD cohort. The disorders are heterogeneous, and there is no one-size-fits-all approach – treatment must be tailored to fit each specific disorder in each individual patient. Even patients who are followed at the dedicated clinic are not protected from metabolic decompensations and/or chronic organ-specific complications. While it is commonly assumed that patients with IMD are more stable once they become adults, our data show that the diseases continue to exact a lifelong toll. A coordinated monitoring of target organs by a multidisciplinary team is needed. To ensure that the success in diagnosis and treatment of individuals with IMD is sustained, there is a clear requirement for adequately staffed adult IMD clinics.
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children
Authors: Vogt Marius , Girschick Hermann , Schweitzer Tilmann , Benoit Clemens , Holl-Wieden Annette , Seefried Lothar , Jakob Franz , Hofmann Christine 
Published: August 2020

Abstract
Background
Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by loss-of-function mutations in the ALPL gene that encodes the tissue-nonspecific alkaline phosphatase TNAP (ORPHA 436). Its clinical presentation is highly heterogeneous with a remarkably wide-ranging severity. HPP affects patients of all ages. In children HPP-related musculoskeletal symptoms may mimic rheumatologic conditions and diagnosis is often difficult and delayed. To improve the understanding of HPP in children and in order to shorten the diagnostic time span in the future we studied the natural history of the disease in our large cohort of pediatric patients.
This single centre retrospective chart review included longitudinal data from 50 patients with HPP diagnosed and followed at the University Children’s Hospital Wuerzburg, Germany over the last 25 years.

Results
The cohort comprises 4 (8%) perinatal, 17 (34%) infantile and 29 (58%) childhood onset HPP patients. Two patients were deceased at the time of data collection. Diagnosis was based on available characteristic clinical symptoms (in 88%), low alkaline phosphatase (AP) activity (in 96%), accumulating substrates of AP (in 58%) and X-ray findings (in 48%). Genetic analysis was performed in 48 patients (31 compound heterozygous, 15 heterozygous, 2 homozygous mutations per patient), allowing investigations on genotype-phenotype correlations. Based on anamnestic data, median age at first clinical symptoms was 3.5 months (min. 0, max. 107), while median time to diagnosis was 13 months (min. 0, max. 103). Common symptoms included: impairment of motor skills (78%), impairment of mineralization (72%), premature loss of teeth (64%), musculoskeletal pain and craniosynostosis (each 64%) and failure to thrive (62%). Up to now 20 patients started medical treatment with Asfotase alfa.

Conclusions
Reported findings support the clinical perception of HPP being a chronic multi-systemic disease with often delayed diagnosis. Our natural history information provides detailed insights into the prevalence of different symptoms, which can help to improve and shorten diagnostics and thereby lead to an optimised medical care, especially with promising therapeutic options such as enzyme-replacement-therapy with Asfotase alfa in mind.
Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study
Authors: Barman-Aksözen Jasmin , Nydegger Michèle , Schneider-Yin Xiaoye , Minder Anna-Elisabeth 
Published: August 2020

Abstract
Background
Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the first clinically tested therapy effectively increasing the time EPP patients can spend in direct sunlight without developing symptoms and reducing the number and severity of phototoxic reactions.

Objectives
We report our data on real-world effectiveness of afamelanotide treatment in EPP and its phototoxic burn protection factor (PBPF).

Methods
We analysed clinical data collected between 2016 and 2018 in the Swiss EPP cohort (n = 39) on maximum phototoxic burn tolerance time (PBTT), i.e., maximum time spent in sunlight without phototoxic reaction, severity of phototoxic reactions as assessed by an 11-point Likert-type visual analogue scale (VAS), with 0 being no pain and 10 being the worst possible pain, and Quality of Life (QoL), as assessed with an EPP-specific instrument.

Results
Before treatment, the PBTT was median 10 min (IQR 5–20). Under treatment, PBTT increased to median 180 min (IQR 120–240). Individual PBPF increased 1.8- to 180-fold (full range, median 15). The pain severity of the worst phototoxic reaction before treatment was median 10 and under treatment median 6 (IQR 3–7). QoL at the end of the observation period in 2018 (with all the assessed patients under treatment) was 81.4% (IQR 69.4–93.4, n = 34). A 97.4% treatment adherence rate was observed.

Conclusion
Treatment of EPP patients with afamelanotide is highly effective under real-world conditions. We suggest PBTT as a clinical meaningful endpoint in further clinical trials.
Aspartate β-hydroxylase as a target for cancer therapy
Authors: Kanwal Madiha , Smahel Michal , Olsen Mark , Smahelova Jana , Tachezy Ruth 
Published: August 2020

AbstractAs metastasis is a major cause of death in cancer patients, new anti-metastatic strategies are needed to improve cancer therapy outcomes. Numerous pathways have been shown to contribute to migration and invasion of malignant tumors. Aspartate β-hydroxylase (ASPH) is a key player in the malignant transformation of solid tumors by enhancing cell proliferation, migration, and invasion. ASPH also promotes tumor growth by stimulation of angiogenesis and immunosuppression. These effects are mainly achieved via the activation of Notch and SRC signaling pathways. ASPH expression is upregulated by growth factors and hypoxia in different human tumors and its inactivation may have broad clinical impact. Therefore, small molecule inhibitors of ASPH enzymatic activity have been developed and their anti-metastatic effect confirmed in preclinical mouse models. ASPH can also be targeted by monoclonal antibodies and has also been used as a tumor-associated antigen to induce both cluster of differentiation (CD) 8+ and CD4+ T cells in mice. The PAN-301-1 vaccine against ASPH has already been tested in a phase 1 clinical trial in patients with prostate cancer. In summary, ASPH is a promising target for anti-tumor and anti-metastatic therapy based on inactivation of catalytic activity and/or immunotherapy.
Validation of a point-of-care capillary lactate measuring device (Lactate Pro 2)
Authors: Raa Anette , Sunde Geir Arne , Bolann Bjørn , Kvåle Reidar , Bjerkvig Christopher , Eliassen Håkon S. , Wentzel-Larsen Tore , Heltne Jon-Kenneth 
Published: August 2020

Abstract
Background
The measurement of lactate in emergency medical services has the potential for earlier detection of shock and can be performed with a point-of-care handheld device. Validation of a point-of-care handheld device is required for prehospital implementation.

Aim
The primary aim was to validate the accuracy of Lactate Pro 2 in healthy volunteers and in haemodynamically compromised intensive care patients. The secondary aim was to evaluate which sample site, fingertip or earlobe, is most accurate compared to arterial lactate.

Methods
Arterial, venous and capillary blood samples from fingertips and earlobes were collected from intensive care patients and healthy volunteers. Arterial and venous blood lactate samples were analysed on a stationary hospital blood gas analyser (ABL800 Flex) as the reference device and compared to the Lactate Pro 2. We used the Bland-Altman method to calculate the limits of agreement and used mixed effect models to compare instruments and sample sites. A total of 49 intensive care patients with elevated lactate and 11 healthy volunteers with elevated lactate were included.

Results
There was no significant difference in measured lactate between Lactate Pro 2 and the reference method using arterial blood in either the healthy volunteers or the intensive care patients. Capillary lactate measurement in the fingertip and earlobe of intensive care patients was 47% (95% CI (29 to 68%), p < 0.001) and 27% (95% CI (11 to 45%), p < 0.001) higher, respectively, than the corresponding arterial blood lactate. In the healthy volunteers, we found that capillary blood lactate in the fingertip was 14% higher than arterial blood lactate (95% CI (4 to 24%), p = 0.003) and no significant difference between capillary blood lactate in the earlobe and arterial blood lactate.

Conclusion
Our results showed that the handheld Lactate Pro 2 had good agreement with the reference method using arterial blood in both intensive care patients and healthy volunteers. However, we found that the agreement was poorer using venous blood in both groups. Furthermore, the earlobe may be a better sample site than the fingertip in intensive care patients.