bluuebunny/crossref_metadata_2025_split huggingface dataset:
A Chinese family with Noonan syndrome caused by a heterozygous variant in LZTR1: a case report and literature review
Authors: Zhao Xiu , Li Zhuoguang , Wang Li , Lan Zhangzhang , Lin Feifei , Zhang Wenyong , Su Zhe 
Published: January 2021

AbstractBackgroundNoonan syndrome is an inherited disease involving multiple systems. More than 15 related genes have been discovered, among whichLZTR1was discovered recently. However, the pathogenesis and inheritance pattern ofLZTR1in Noonan syndrome have not yet been elucidated.Case presentationWe herein describe a family withLZTR1-related Noonan syndrome. In our study, the proband, sister, mother, maternal aunt and grandmother and female cousin showed the typical or atypical features of Noonan syndrome. Only 3 patients underwent the whole-exome sequencing analysis and results showed that the proband as well as her sister inherited the same heterozygousLZTR1variant (c.1149 + 1G > T) from their affected mother. Moreover, the proband accompanied by growth hormone deficiency without other associated variants.ConclusionIn a Chinese family with Noonan syndrome, we find that the c.1149 + 1G > T variant inLZTR1gene shows a different autosomal dominant inheritance from previous reports, which changes our understanding of its inheritance and improves our understanding of Noonan syndrome.
Association between decreased thyroid stimulating hormone and hyperuricemia in type 2 diabetic patients with early-stage diabetic kidney disease
Authors: Feng Xiaomeng , Huang Jing , Peng Yan , Xu Yuan 
Published: January 2021

AbstractBackgroundSerum uric acid (SUA) is associated with the development of diabetic kidney disease (DKD). Thyroid hormones can regulate metabolism and insulin resistance. The relationship between SUA and thyroid function in patients with DKD is still uncertain. In current study, we aimed to investigate the association between thyroid stimulating hormone (TSH) and SUA in type 2 diabetic patients with early-stage DKD.MethodsTwo hundred fifty-four type 2 diabetic patients with early-stage DKD were enrolled in current study and were further classified as high SUA group (SUA level > 420 μmol/L in males or > 360 μmol/L in females,n = 101) and normal SUA group (SUA level ≤ 420 μmol/L in males or ≤ 360 μmol/L in females,n = 153). Eighty-five control subjects were recruited as control group. The clinical characteristics were obtained via face-to-face surveys and medical records.ResultsCompared with normal SUA group and control group, high SUA group exhibited the increased SUA level, and the decreased TSH level (P < 0.017 for all), and no significant difference was detected in SUA and TSH between normal SUA group and control group. TSH was negatively associated with SUA (r = − 0.35,P < 0.001) in type 2 diabetic participants with early-stage DKD. Furthermore, the decreased TSH level was independently correlated with higher SUA level (β = − 25.69,P < 0.001), and retained a significant association with hyperuricemia (odds ratio = 1.73,P = 0.002) after adjusting for confounding factors in type 2 diabetic patients with early-stage DKD.ConclusionsTSH is negatively correlated with SUA, and decreased TSH is an independent risk factor for hyperuricemia in type 2 diabetic patients with early-stage DKD. These results indicate that thyroid hormones, TSH in particular, might participate in regulating uric acid metabolism in patients with early-stage DKD.
Non-invasive evaluation of labial gingival and alveolar crest thickness in the maxillary anterior teeth region by 15-MHz B-mode ultrasonography
Authors: Sun Meng , Liu Xiaofeng , Xia Ting , Meng He 
Published: January 2021

AbstractBackgroundKnowledge of gingival thickness (GT) and alveolar crest thickness (ACT) is essential when performing surgical and non-surgical procedures in the maxillary anterior teeth region. This study aimed at evaluating the GT and ACT in the maxillary anterior teeth region using 15-MHz B-mode Ultrasonic (US).MethodsA total of 300 teeth from 50 healthy participants, comprising 25 women and 25 men, aged between 18 and 35 years were analyzed. We measured labial periodontal tissue structures of maxillary anterior teeth, including GT and ACT, at 3 mm apical to the gingival margin (GT3) and the crestal level, respectively. The GT and ACT measurements were correlated.ResultsThe mean labial GT3 of the maxillary central incisors, lateral incisors, and canines were 1.24 ± 0.03 mm, 1.21 ± 0.03 mm and 1.11 ± 0.03 mm, respectively. Canine GT3 was significantly thin than those in the central and lateral incisors (P < 0.05). With regards to labial ACT, we recorded 0.79 ± 0.03 mm, 0.76 ± 0.02 mm and 0.73 ± 0.02 mm for maxillary central incisors, lateral incisors and canines, respectively. There were no significant differences in ACT of maxillary anterior teeth (P > 0.05). GT3 of men was greater than that of women (P < 0.05). In addition, GT and ACT were positively correlated (r = 0.32,P < 0.01).Conclusion15-MHz B-mode US is an effective tool for measuring labial GT and ACT of anterior teeth. There are sex-associated differences in GT3 and the correlation between the GT3 and ACT of anterior teeth is moderately positive.
Period poverty and mental health implications among college-aged women in the United States
Authors: Cardoso Lauren F. , Scolese Anna M. , Hamidaddin Alzahra , Gupta Jhumka 
Published: January 2021

Abstract
Background
The purpose of this study is to examine the frequency of “period poverty,” or not being able to afford sanitary products, among university students, and associations with poor mental health.

Methods
An online survey was conducted with a nationally-drawn sample (N = 471) of college-attending women to assess the association between period poverty and depression. Period poverty was measured via two questions designed for this study; depression was measured with the standard PHQ-9. Multivariable logistic regression was utilized for analysis.

Results
Among our sample, 14.2% of women had experienced period poverty ever in the past-year; an additional 10% experienced it every month. Compared to those who had never experienced period poverty, adjusted analysis revealed that women with monthly past-year period poverty were the most likely to report moderate/severe depression (AOR = 2.34, 95% CI 1.09–4.99), followed by those who had experienced it ever in the past year (AOR = 1.83, 95% CI, 0.99–3.38).

Conclusion
Many young women cannot afford menstrual health products to meet their monthly needs, and this may impact their mental well-being. Improved access to affordable menstrual products is needed to support these young women.
Mechanisms linking teenage mothers’ educational attainment with self-reported health at age 50
Authors: Maslowsky Julie , Hendrick C. Emily , Stritzel Haley 
Published: January 2021

Abstract
Background
Early childbearing is associated with adverse health and well-being throughout the life course for women in the United States. As education continues to be a modifiable social determinant of health after a young woman gives birth, the association of increased educational attainment with long-term health for women who begin childbearing as teenagers is worthy of investigation.

Methods
Data are from 301 mothers in the National Longitudinal Survey of Youth 1979 who gave birth prior to age 19. We estimated path models to assess women’s incomes, partner characteristics, and health behaviors at age 40 as mediators of the relationship between their educational attainment and self-rated general health at age 50.

Results
After accounting for observed background factors that select women into early childbearing and lower educational attainment, higher levels of education (high school diploma and GED attainment vs. no degree) were indirectly associated with higher self-rated health at age 50 via higher participant income at age 40.

Conclusions
As education is a social determinant of health that is amenable to intervention after a teen gives birth, our results are supportive of higher educational attainment as a potential pathway to improving long-term health outcomes of women who begin childbearing early.
Predictors of timely diagnostic follow-up after an abnormal Pap test among Hispanic women seeking care in El Paso, Texas
Authors: Carrillo Thelma , Montealegre Jane R. , Bracamontes Christina G. , Scheurer Michael E. , Follen Michele , Mulla Zuber D. 
Published: January 2021

Abstract
Background
Diagnostic follow-up of women with an abnormal Pap test is necessary to resolve the risk developing cervical cancer. The purpose of this study is to describe patient characteristics associated with timely receipt of a diagnostic colposcopy after an abnormal Pap test among Hispanic women in El Paso, a Texas-Mexico border city.

Methods
We conducted a retrospective chart review of Hispanic patients seen at an academic colposcopy clinic following an abnormal Pap test. An optimal diagnostic interval to colposcopy was based on a National Breast and Cervical Cancer Early Detection Program (NBCCEDP) quality indicator and was defined as receipt of colposcopy within 90 days or less from the date of an abnormal Pap test. Risk ratios (RR) were calculated by building a generalized linear model fit using a Poisson distribution, log link, and robust variance.

Results
Overall, 177 of the 270 women (65.6%) received follow-up within an optimal diagnostic interval. After adjusting for other variables in the model, women who were 30 years of age or older were 32% more likely to have an optimal interval than younger women (adjusted RR = 1.32, P < 0.01). High school graduates were less likely than more educated women to have an optimal interval (adjusted RR = 0.68, P < 0.01). Participation in the NBCCEDP was not associated with receipt of follow-up within an optimal diagnostic interval.

Conclusions
Compared with women with greater educational attainment, high school graduates were less likely to receive follow-up within an optimal diagnostic interval, as were younger (< 30 years) women compared with older women. Participation in the NBCCEDP was not associated with receipt of care within an optimal diagnostic interval.
Assessing professional competence in optometry – a review of the development and validity of the written component of the competency in optometry examination (COE)
Authors: Backhouse S. , Chiavaroli N. G. , Schmid K. L. , McKenzie T. , Cochrane A. L. , Phillips G. , Jalbert I. 
Published: January 2021

Abstract
Background
Credentialing assessment for overseas-educated optometrists seeking registration in Australia and New Zealand is administered by the Optometry Council of Australia and New Zealand. The aim was to review the validation and outcomes of the written components of this exam to demonstrate credentialing meets entry-level competency standards.

Methods
The Competency in Optometry Examination consists of two written and two clinical parts. Part 1 of the written exam comprises multiple choice questions (MCQ) covering basic and clinical science, while Part 2 has 18 short answer questions (SAQ) examining diagnosis and management. Candidates must pass both written components to progress to the clinical exam. Validity was evaluated using Kane’s framework for scoring (marking criteria, item analysis), generalization (blueprint), extrapolation (standard setting), and implications (outcome, including pass rates). A competency-based blueprint, the Optometry Australia Entry-level Competency Standards for Optometry 2014, guided question selection with the number of items weighted towards key competencies. A standard setting exercise, last conducted in 2017, was used to determine the minimum standard for both written exams. Item response theory (Rasch) was used to analyse exams, produce reliability metrics, apply consistent standards to the results, calibrate difficulty across exams, and score candidates.

Results
Data is reported on 12 administrations of the written examination since 2014. Of the 193 candidates who sat the exam over the study period, 133 (68.9%) passed and moved on to the practical component. Ninety-one (47.2%) passed both the MCQ and SAQ exams on their first attempt. The MCQ exam has displayed consistently high reliability (reliability index range 0.71 to 0.93, average 0.88) across all 12 administrations. Prior to September 2017 the SAQ had a set cutscore of 50%, and the difficulty of the exam was variable. Since the introduction of Rasch analysis to calibrate difficulty across exams, the reliability and power of the SAQ exam has been consistently high (separation index range 0.82 to 0.93, average 0.86).

Conclusions
The findings from collective evidence support the validity of the written components (MCQ and SAQ) of the credentialing of the competency of overseas-educated optometrists in Australia and New Zealand.
Psychometric properties of the critical thinking disposition assessment test amongst medical students in China: a cross-sectional study
Authors: Cui Liyuan , Zhu Yaxin , Qu Jinglou , Tie Liming , Wang Ziqi , Qu Bo 
Published: January 2021

Abstract
Background
Critical thinking disposition helps medical students and professionals overcome the effects of personal values and beliefs when exercising clinical judgment. The lack of effective instruments to measure critical thinking disposition in medical students has become an obstacle for training and evaluating students in undergraduate programs in China. The aim of this study was to evaluate the psychometric properties of the CTDA test.

Methods
A total of 278 students participated in this study and responded to the CTDA test. Cronbach’s α coefficient, internal consistency, test-retest reliability, floor effects and ceiling effects were measured to assess the reliability of the questionnaire. Construct validity of the pre-specified three-domain structure of the CTDA was evaluated by explanatory factor analysis (EFA) and confirmatory factor analysis (CFA). The convergent validity and discriminant validity were also analyzed.

Results
Cronbach’s alpha coefficient for the entire questionnaire was calculated to be 0.92, all of the domains showed acceptable internal consistency (0.81–0.86), and the test-retest reliability indicated acceptable intra-class correlation coefficients (ICCs) (0.93, p < 0.01). The EFA and the CFA demonstrated that the three-domain model fitted the data adequately. The test showed satisfactory convergent and discriminant validity.

Conclusions
The CTDA is a reliable and valid questionnaire to evaluate the disposition of medical students towards critical thinking in China and can reasonably be applied in critical thinking programs and medical education research.
A revealed preference analysis to develop composite scores approximating lung allocation policy in the U.S
Authors: Stewart Darren E. , Wood Dallas W. , Alcorn James B. , Lease Erika D. , Hayes Michael , Hauber Brett , Goff Rebecca E. 
Published: January 2021

Abstract
Background
The patient ranking process for donor lung allocation in the United States is carried out by a classification-based, computerized algorithm, known as the match system. Experts have suggested that a continuous, points-based allocation framework would better serve waiting list candidates by removing hard boundaries and increasing transparency into the relative importance of factors used to prioritize candidates. We applied discrete choice modeling to match run data to determine the feasibility of approximating current lung allocation policy by one or more composite scores. Our study aimed to demystify the points-based approach to organ allocation policy; quantify the relative importance of factors used in current policy; and provide a viable policy option that adapts the current, classification-based system to the continuous allocation framework.

Methods
Rank ordered logistic regression models were estimated using 6466 match runs for 5913 adult donors and 534 match runs for 488 pediatric donors from 2018. Four primary attributes are used to rank candidates and were included in the models: (1) medical priority, (2) candidate age, (3) candidate’s transplant center proximity to the donor hospital, and (4) blood type compatibility with the donor.

Results
Two composite scores were developed, one for adult and one for pediatric donor allocation. Candidate rankings based on the composite scores were highly correlated with current policy rankings (Kendall’s Tau ~ 0.80, Spearman correlation > 90%), indicating both scores strongly reflect current policy. In both models, candidates are ranked higher if they have higher medical priority, are registered at a transplant center closer to the donor hospital, or have an identical blood type to the donor. Proximity was the most important attribute. Under a points-based scoring system, candidates in further away zones are sometimes ranked higher than more proximal candidates compared to current policy.

Conclusions
Revealed preference analysis of lung allocation match runs produced composite scores that capture the essence of current policy while removing rigid boundaries of the current classification-based system. A carefully crafted, continuous version of lung allocation policy has the potential to make better use of the limited supply of donor lungs in a manner consistent with the priorities of the transplant community.
Identifying goals, roles and tasks of extended scope physiotherapy in Dutch primary care- an exploratory, qualitative multi-step study
Authors: Bastiaens Ferdinand , Barten Di-Janne , Veenhof Cindy 
Published: January 2021

AbstractBackgroundRising healthcare costs, an increasing general practitioner shortage and an aging population have made healthcare organization transformation a priority. To meet these challenges, traditional roles of non-medical members have been reconsidered. Within the domain of physiotherapy, there has been significant interest in Extended Scope Physiotherapy (ESP). Although studies have focused on the perceptions of different stakeholders in relation to ESP, there is a large variety in the interpretation of ESP. Aim: To identify a paradigm of ESP incorporating goals, roles and tasks, to provide a consistent approach for the implementation of ESP in primary care.MethodsAn exploratory, qualitative multi-step design was used containing a scoping review, focus groups and semi-structured interviews. The study population consisted of patients, physiotherapists, general practitioners and indirect stakeholders such as lecturers, health insurers and policymakers related to primary care physiotherapy. The main topics discussed in the focus groups and semi-structured interviews were the goals, skills and roles affiliated with ESP. The ‘framework’ method, developed by Ritchie & Spencer, was used as analytical approach to refine the framework.ResultsTwo focus groups and twelve semi-structured interviews were conducted to explore stakeholder perspectives on ESP in Dutch primary care. A total of 11 physiotherapists, six general practitioners, five patients and four indirect stakeholders participated in the study. There was a lot of support for ‘decreasing healthcare costs’, ‘tackling increased health demand’ and ‘improving healthcare effectiveness’ as main goals of ESP. The most agreement was reached on ‘triaging’, ‘referring to specialists’ and ‘ordering diagnostic imaging’ as tasks fitting for ESP. Most stakeholders also supported ‘working in a multidisciplinary team’, ‘working as a consultant’ and ‘an ESP role separated from a physiotherapist role’ as roles of ESP.ConclusionsBased on the scoping review, focus groups and interviews with direct and indirect stakeholders, it appears that there is sufficient support for ESP in the Netherlands. This study provides a clear presentation of how ESP can be conceptualized in primary care. A pilot focused on determining the feasibility of ESP in Dutch primary care will be the next step.
Development and implementation of a patient assistance fund: a descriptive study
Authors: Soffe Burke W. , Miranda Justine E. , Fang Jenny , Epperson Daniel G. , Lara Roberto A. , Williamson Hazel L. , Lipsky Martin S. 
Published: January 2021

Abstract
Background
The purpose of this descriptive study is to outline the Roseman University of Health Sciences (RUHS) College of Dental Medicines’ Patient Assistance Fund development, organization and outcomes. The description and reported results provide insight to others considering similar health professions programs.

Methods
The Patient Assistance Fund (PAF) affords dental students an opportunity to petition for and obtain financial assistance for their most disadvantaged patients. In this study, two sources of data were collected and used with a quantitative analysis for data collected as part of the PAFs operation and a qualitative analysis to evaluate the patient experiences.

Results
A total of 16 student advocates, consisting of 6 males and 10 females from the D3 and D4 classes made 26 presentations to the PAF board committee. The combined amount requested from the PAF was $47,428.00 (“Cost of Treatment Plan”) representing an average request per patient of $1824.15 (range $324.00 to $4070.00). The approved procedures and treatment plans totaled $21,278.36 (“Cost of Approved Procedures”) with an average of $818.40 (range $204.00 to $2434.00) per patient. Patients and students expressed a high degree of satisfaction with the program.

Conclusions
This study provides an overview of the structure, funding sources, expenditures and patient services supported by a dental student managed patient assistance fund. The experiences at RUHS College of Dental Medicine (CODM) suggest that other healthcare professions schools can develop similar type programs that yield benefit both to students and to patients in need.