bluuebunny/crossref_metadata_2025_split huggingface dataset:
Validity of a simple footprint assessment board for diagnosing the severity of flatfoot: a prospective cohort study
Authors: Toyooka Seikai , Shimazaki Naoya , Yasui Youichi , Ando Shuji , Saho Yasuaki , Nakagawa Takumi , Kawano Hirotaka , Miyamoto Wataru 
Published: March 2021

Abstract
Background
A simple, non-quantitative, and cost-effective diagnostic tool would enable the diagnosis of flatfoot without need for specialized training. A simple footprint assessment board that investigates which toe the cord passes through from the centre point of the heel to the most lateral point of the medial contour of the footprint has been developed to assess flatfoot. The purpose of this study was to verify the validity of a simple footprint assessment board for flatfoot.

Methods
Thirty-five consecutive patients with foot pain, foot injury, or any associated symptoms who underwent computed tomography (CT) were analysed prospectively. At the time of the CT scan, a footprint analysis using a simple footprint assessment board was performed. The navicular index, tibiocalcaneal angle, and calcaneal inclination angle were evaluated by CT to assess flat feet. These three criteria were compared to those evaluated with the simple footprint assessment board by regression analysis. In addition, the same analysis was conducted separately for young, middle-aged, and older patients in order to investigate each age group.

Results
The navicular index and tibiocalcaneal angle generally decreased as the score of the simple footprint assessment board increased. Calcaneal inclination angle generally increased as the score of the simple footprint assessment board increased. As the scores of the simple footprint assessment board decreased by approaching the great toe, the navicular index and tibiocalcaneal angle were higher and calcaneal inclination angle was lower, which is indicative of a higher likelihood of flatfoot. The scores derived from the simple footprint assessment board was correlated with these three criteria measured by CT, not only when the result of simple footprint assessment board was set as a non-continuous variable but also when the result was set as a continuous variable. The results of the age-stratified survey were similar for all groups.

Conclusions
The findings of this study suggest that a simple footprint assessment board can be potentially useful to detect flatfoot.

Trial registration
Retrospectively registered.
A cohort study of survival following discharge from hospital in rural Tanzanian children using linked data of admissions with community-based demographic surveillance
Authors: Mukasa Oscar , Masanja Honorati , DeSavigny Don , Schellenberg Joanna 
Published: March 2021

Abstract
Background
To illustrate the public health potential of linking individual bedside data with community-based household data in a poor rural setting, we estimated excess pediatric mortality risk after discharge from St Francis Designated District Hospital in Ifakara, Tanzania.

Methods
Linked data from demographic and clinical surveillance were used to describe post-discharge mortality and survival probability in children aged < 5 years, by age group and cause of admission. Cox regression models were developed to identify risk factors.

Results
Between March 2003 and March 2007, demographic surveillance included 28,910 children aged 0 to 5 years and among them 831 (3%) were admitted at least once to the district hospital. From all the children under the demographic surveillance 57,880 person years and 1381 deaths were observed in 24 months of follow up. Survivors of hospital discharge aged 0–5 years were almost two times more likely to die than children of the same age in the community who had not been admitted (RR = 1.9, P < 0.01, 95% CI 1.6, 2.4). Amongst children who had been admitted, mortality rate within a year was highest in infants (93 per 1000 person years) and amongst those admitted due to pneumonia and diarrhoea (97 and 85 per 1000 person years respectively). Those who lived 75 km or further from the district hospital, amongst children who were admitted and survived discharge from hospital, had a three times greater chance of dying within one year compared to those living within 25 km (adjusted HR 3.23, 95% CI 1.54,6.75). The probability of surviving the first 30 days post hospitalization was 94.4% [95% CI 94.4, 94.9], compared to 98.8% [95% CI 97.199.5] in non-hospitalized children of the same age in the commuity.

Conclusion
This study illustrates the potential of linking health related data from facility and household levels. Our results suggest that families may need additional support post hospitalization.
Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases
Authors: Post Annemarie E. M. , Klockgether Thomas , Landwehrmeyer G. Bernhard , Pandolfo Massimo , Arnesen Astri , Reinhard Carola , Graessner Holm 
Published: March 2021

Abstract
Background
Patient involvement in research increases the impact of research and the likelihood of adoption in clinical practice. A first step is to know which research themes are important for patients. We distributed a survey on research priorities to ERN-RND members, both patient representatives and healthcare professionals, asking them to prioritize five research themes for rare neurological diseases on a scale ranging from 1 (most important) to 5 (least important). A follow-up e-mail interview was conducted with patient representatives and professionals to assess potential reasons for differences in opinions between these two groups.

Results
In total, 156 responses were analysed: 61 from professionals and 95 from patient representatives. They covered all ERN-RND disease groups and came from 20 different EU countries. Almost half of the respondents considered ‘Developing therapies and preventive strategies’ the most important research theme. In particular, patient representatives prioritized this theme more often than professionals, while professionals prioritized ‘Disease mechanisms and models’.
Patient representatives indicated that therapies and prevention were of the utmost importance to them, because their lives are often heavily impacted by the disease and their main goal is to relief the burden of disease. Professionals indicated that investigating disease mechanisms will lead to more knowledge and is indispensable for finding new treatments.

Conclusions
Patients and professionals have different opinions on which research theme should have priority. A qualitative follow-up shows that they respect each others’ view points. Different stakeholders involved in research should be aware of their differences in research theme priority. Explaining these differences to each other leads to more understanding, and could improve patient engagement in research.

Graphical Abstract
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Authors:   UCLA California Center for Rare Disease, Hüffmeier Ulrike , Kraus Cornelia , Reuter Miriam S. , Uebe Steffen , Abbott Mary-Alice , Ahmed Syed A. , Rawson Kristyn L. , Barr Eileen , Li Hong , Bruel Ange-Line , Faivre Laurence , Tran Mau-Them Frédéric , Botti Christina , Brooks Susan , Burns Kaitlyn , Ward D. Isum , Dutra-Clarke Marina , Martinez-Agosto Julian A. , Lee Hane , Nelson Stanley F. , Zacher Pia , Abou Jamra Rami , Klöckner Chiara , McGaughran Julie , Kohlhase Jürgen , Schuhmann Sarah , Moran Ellen , Pappas John , Raas-Rothschild Annick , Sacoto Maria J. Guillen , Henderson Lindsay B. , Palculict Timothy Blake , Mullegama Sureni V. , Zghal Elloumi Houda , Reich Adi , Schrier Vergano Samantha A. , Wahl Erica , Reis André , Zweier Christiane 
Published: March 2021

Abstract
Background
An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients.

Results
21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals’ facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype–phenotype correlation.

Conclusions
Our study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.
The reliability and validity of the Japanese version of the Daily Record of Severity of Problems (J-DRSP) and Development of a Short-Form version (J-DRSP (SF)) to assess symptoms of premenstrual syndrome among Japanese women
Authors: Ikeda Yumie , Egawa Miho , Okamoto Kazuya , Mandai Masaki , Takahashi Yoshimitsu , Nakayama Takeo 
Published: March 2021

Abstract
Purpose
To assess the validity and reliability of the Japanese version of the Daily Record of Severity of Problems (J-DRSP, 24 items) for evaluating symptoms of premenstrual syndrome (PMS), and to develop a short form version of the J-DRSP.

Methods
Using the “DRSP-JAPAN” smartphone app, we collected daily J-DRSP records from cycle day − 6 (CD − 6) to CD 10, with CD 1 representing the menstruation onset date. Factorial validity (exploratory factor analysis: EFA, confirmatory factor analysis: CFA) and criterion validity were examined, and test-retest reliability (intraclass correlation: ICC) evaluated. The short-form version of the J-DRSP was developed using classical test theory.

Results
In total, 304 women participated and 243 recorded symptoms on at least 4 days spanning the week of the luteal phase (CD − 6 to CD 0) and 4 days spanning the week of the follicular phase (CD 4 to CD 10), with CD 0 set as the day before menstruation started. The EFA revealed a two-factor structure. Kaiser-Meyer-Olkin was 0.992, and Bartlett’s test of sphericity chi-square was 3653.89 (P < 0.001). However, the model fitness of CFA was found to be suboptimal (comparative fit index (CFI): 0.83, root mean square error of approximation (RMSEA): 0.12). Total scores for J-DRSP and the sum scores for each subscale were higher on CD 0 than on CD 10 (p < 0.001), suggesting validity for some criteria. ICC values for the total J-DRSP score from CD 0 to CD − 1, and between CD 9 to CD 10, were 0.60 (95% CI: 0.48–0.72) and 0.76 (95% CI: 0.69–0.82), respectively. Having eliminated some original items after considering factor loading for each item, we developed an 8-item Short-Form J-DRSP (J-DRSP (SF)) comprising 2 factors (S-Psychological and S-Physical, 4 items for each). CFA showed a better model fit (CFI: 0.99, RMSEA: 0.048), and ICC values in the luteal and follicular phases were 0.61 (95%CI: 0.51–0.68) and 0.70 (95%CI: 0.62–0.77), respectively.

Conclusion
The J-DRSP has moderate to good reliability and a certain level of validity. The 8-item J-DRSP (SF) has a two-factor structure and can be used effectively among Japanese women to assess their PMS symptoms.
Development of a culturally sensitive Arabic version of the Mini International Neuropsychiatric Interview (M.I.N.I.-AR) and validation of the depression module
Authors: Karnouk Carine , Böge Kerem , Lindheimer Nico , Churbaji Dana , Abdelmagid Shaymaa , Mohamad Sara , Hahn Eric , Bajbouj Malek 
Published: March 2021

Abstract
Background
Arabic represents one of the most frequently spoken languages worldwide, especially among refugee populations. There is a pressing need for specialized diagnostic tools corresponding to the DSM-5 criteria in Modern Standard Arabic, which can be administered on Arabic speakers in the West and Arab region alike.

Objectives
To develop and validate the culturally-adapted version of the most recent M.I.N.I. 7.0.2 into Modern Standard Arabic—a form of Arabic commonly used across all Arab countries.

Methods
102 participants were recruited between April 2019 to March 2020 at the Charité - Universitätsmedizin in Berlin. Symptoms were assessed with Arabic versions of rater-based and self-rated measures, including Mini International Neuropsychiatric Interview (M.I.N.I.), Patient Health Questionnaire (PHQ-9), and Harvard Trauma Questionnaire (HTQ). Arabic-speaking psychiatrists saw participants for diagnostic assessment.

Results
Cohen’s kappa (κ) values were moderate for major depression, and slight for post-traumatic stress disorder, as well as generalized anxiety disorder. Moreover, kappa values indicated moderate agreement between M.I.N.I.-AR and PHQ-9 for depression, as well as HTQ for post-traumatic stress disorder, respectively.

Conclusion
The translated and culturally adapted version of the M.I.N.I. addresses an existing need for a reliable, efficient, and effective comprehensive diagnostic tool using the most recent DSM-5 criteria in Modern Standard Arabic (MSA). Based on the obtained results, only a validation of the depression module (Module A) of the M.I.N.I-AR was possible. Study outcomes also show evidence for the validation of Module H covering Post-Traumatic Stress Disorder. Potential valuable contributions can be extended to this translation and validation.
Third-line therapy for chronic myeloid leukemia: current status and future directions
Authors: Cortes Jorge , Lang Fabian 
Published: March 2021

AbstractChronic myeloid leukemia (CML) is driven by the BCR-ABL1 fusion protein, formed by a translocation between chromosomes 9 and 22 that creates the Philadelphia chromosome. The BCR-ABL1 fusion protein is an optimal target for tyrosine kinase inhibitors (TKIs) that aim for the adenosine triphosphate (ATP) binding site of ABL1. While these drugs have greatly improved the prognosis for CML, many patients ultimately fail treatment, some requiring multiple lines of TKI therapy. Mutations can occur in the ATP binding site of ABL1, causing resistance by preventing the binding of many of these drugs and leaving patients with limited treatment options. The approved TKIs are also associated with adverse effects that may lead to treatment discontinuation in some patients. Efficacy decreases with each progressive line of therapy; data suggest little clinical benefit of treatment with a third-line (3L), second-generation tyrosine kinase inhibitor (2GTKI) after failure of a first-generation TKI and a 2GTKI. Novel treatment options are needed for the patient population that requires treatment in the 3L setting and beyond. This review highlights the need for clear guidelines and new therapies for patients requiring 3L treatment and beyond.
Ovarian seromucinous tumors: clinicopathological features of 10 cases with a detailed review of the literature
Authors: Idrees Romana , Din Nasir Ud , Siddique Sabeehudin , Fatima Saira , Abdul-Ghafar Jamshid , Ahmad Zubair 
Published: March 2021

Abstract
Background
The 2014 WHO Classification of ovarian neoplasms introduced a new entity of seromucinous tumors associated with endometriosis. These tumors encompassed a spectrum from benign to malignant and included seromucinous cystadenoma/ cystadenofibroma, seromucinous borderline tumor/atypical proliferative seromucinous tumor and seromucinous carcinoma. However, the 2020 WHO Classification of Female Genital Tumours removed seromucinous carcinomas as a distinct entity and recategorized them as Endometrioid carcinomas with mucinous differentiation. Here we describe clinico-morphologic features of seromucinous tumors recategorizing cases originally diagnosed as seromucinous carcinoma in light of 2020 WHO classification and present detailed review of literature.

Methods
Slides of seromucinous tumors were reviewed. Special emphasis was given to evaluation of stromal invasion. Follow-up was obtained.

Results
Ten cases were diagnosed. Mean age was 40 years. Four cases were bilateral. Mean size was 19 cm. Grossly; luminal papillary projections were seen in 6 cases. Tumors demonstrated a papillary architecture with papillae lined by stratified seromucinous epithelium showing nuclear atypia. Stromal invasion was seen in 4 cases. Six cases were reported as borderline seromucinous tumors and 4 cases originally diagnosed as seromucinous carcinoma were recategorized as endometrioid carcinoma with mucinous differentiation on review. Endometriosis was seen in 4 cases. CK7, PAX8 and ER were positive in 7/7 cases. Two cases showed extra-ovarian involvement. Follow up was available in 7 cases. Six patients were alive and well at follow up ranging from 8 to 46 months. Six patients received chemotherapy postoperatively. One patient with carcinoma died of disease 18 months postoperatively.

Conclusion
In our series, 4 cases were originally diagnosed as seromucinous carcinomas. However, these were recategorized in light of the 2020 WHO Classification of Female Genital tumors as endometrioid carcinomas with mucinous differentiation. Six cases were diagnosed as seromucinous borderline tumors. Thus, majority of cases were borderline in agreement with published literature.
Molecular survey of vector-borne diseases in two groups of domestic dogs from Lisbon, Portugal
Authors: Dordio Ana Mafalda , Beck Relja , Nunes Telmo , Pereira da Fonseca Isabel , Gomes Jacinto 
Published: March 2021

Abstract
Background
Canine vector-borne diseases (CVBDs) are caused by a wide range of pathogens transmitted by arthropods. They have been an issue of growing importance in recent years; however, there is limited information about the vector-borne pathogens circulating in Portugal. The aim of the present study was to detect canine vector-borne bacteria and protozoa of veterinary and zoonotic importance using molecular methods.

Methods
One hundred and forty-two dogs from Lisbon, southern Portugal, were tested: 48 dogs from a veterinary hospital clinically suspected of vector-borne diseases and 94 apparently healthy dogs from shelters. Anaplasma spp./Ehrlichia spp., Babesia/Theileria spp., Hepatozoon spp., and Mycoplasma spp. infections were detected by PCR from blood samples and examined under light microscopy. Other information including clinical status and diagnostic test results were collected for each animal.

Results
Infections were detected by PCR in 48 (33.80%) dogs. Single infections were found in 35 dogs (24.64%), and co-infections were found in 13 (9.15%) dogs. Twenty-nine (20.42%) dogs were positive for Hepatozoon spp., 15 (10.56%) for Mycoplasma spp., 11 (7.75%) for Anaplasma spp./Ehrlichia spp., and six (4.21%) for Babesia spp. DNA sequencing was used to identify Babesia vogeli (2.81%), Babesia canis (1.40%), Hepatozoon canis (20.42%), Mycoplasma haematoparvum (2.11%), Mycoplasma haemocanis (8.45%), Anaplasma platys (7.04%), and Ehrlichia canis (0.70%).

Conclusions
This is the first molecular identification of B. canis and M. haematoparvum in dogs from southern Portugal. This study highlights the importance of molecular methods to identify CVBD pathogens in endemic areas and helps to guide the clinical approach of veterinarians in practice.

Graphical Abstract
Diet-induced obesity in animal models: points to consider and influence on metabolic markers
Authors: de Moura e Dias Mariana , dos Reis Sandra Aparecida , da Conceição Lisiane Lopes , Sediyama Catarina Maria Nogueira de Oliveira , Pereira Solange Silveira , de Oliveira Leandro Licursi , Gouveia Peluzio Maria do Carmo , Martinez J. Alfredo , Milagro Fermín Ignacio 
Published: March 2021

AbstractOverweight and obesity are a worldwide public health problem. Obesity prevalence has increased considerably, which indicates the need for more studies to better understand these diseases and related complications. Diet induced-obesity (DIO) animal models can reproduce human overweight and obesity, and there are many protocols used to lead to excess fat deposition. So, the purpose of this review was to identify the key points for the induction of obesity through diet, as well as identifying which are the necessary endpoints to be achieved when inducing fat gain. For this, we reviewed the literature in the last 6 years, looking for original articles that aimed to induce obesity through the diet. All articles evaluated should have a control group, in order to verify the results found, and had worked with Sprague–Dawley and Wistar rats, or with C57BL-/-6 mice strain. Articles that induced obesity by other methods, such as genetic manipulation, surgery, or drugs were excluded, since our main objective was to identify key points for the induction of obesity through diet. Articles in humans, in cell culture, in non-rodent animals, as well as review articles, articles that did not have obesity induction and book chapters were also excluded. Body weight and fat gain, as well as determinants related to inflammation, hormonal concentration, blood glycemia, lipid profile, and liver health, must be evaluated together to better determination of the development of obesity. In addition, to select the best model in each circumstance, it should be considered that each breed and sex respond differently to diet-induced obesity. The composition of the diet and calorie overconsumption are also relevant to the development of obesity. Finally, it is important that a non-obese control group is included in the experimental design.
Practical challenges in oral immunotherapy resolved through patient-centered care
Authors: Graham François , Mack Douglas P. , Bégin Philippe 
Published: March 2021

AbstractOral immunotherapy (OIT) is now widely recognized as a valid option for the management of IgE-mediated food allergies. However, in real-life practice, OIT can lead to a variety of unique situations where the best course of action is undetermined. In patient-centered care, individual patient preferences, needs and values, should guide all clinical decisions. This can be achieved by using shared-decision making and treatment customization to navigate areas of uncertainty in a way that is responsive to patient’s needs and preferences. However, in the context of OIT, lack of awareness of potential protocol adaptability or alternatives can become a barrier to treatment personalization. The purpose of this article is to review the theoretical bases of patient-centered care and shared decision-making and their practical implication for the patient-centered delivery of OIT. Clinical cases highlighting common challenges in real-life OIT practice are presented along with a discussion of potential personalized management options to be considered. While the practice of OIT is bound to evolve as additional scientific and experiential knowledge is gained, it should always remain rooted in the general principles of patient-centered care.