bluuebunny/crossref_metadata_2025_split huggingface dataset:
Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbing
Authors: Nicolau Rafaela , Beirão Tiago , Guimarães Francisca , Aguiar Francisca , Ganhão Sara , Rodrigues Mariana , Grangeia Ana , Brito Iva 
Published: May 2023

Abstract
Background
Primary Hypertrophic Osteoarthropathy (PHO), also known as Touraine-Solente-Gole Syndrome, is a rare, multisystemic autosomal recessive disorder caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes. However, autosomal dominant transmission has also been described in some families with incomplete penetrance. PHO usually starts in childhood or adolescence, presenting with digital clubbing, osteoarthropathy, and pachydermia. We described a complete form of the syndrome in a male patient with a homozygous variant in the SLCO2A1 gene (c.1259G > T).

Case presentation
A 20-year-old male was referred to our Pediatric Rheumatology Clinic with a five-year history of painful and swollen hands, knees, ankles and feet, prolonged morning stiffness and relief with non-steroidal antiinflammatory drugs. He also reported late onset facial acne and palmoplantar hyperhidrosis. Family history was irrelevant and parents were non-consanguineous. On clinical examination, he presented clubbing of the fingers and toes, moderate acne and marked facial skin thickening with prominent scalp folds. He had hand, knee, ankles and feet swelling. Laboratory investigations showed elevated inflammatory markers. Complete blood count, renal and hepatic function, bone biochemistry were normal, as well as immunological panel. Plain radiographs revealed soft tissue swelling, periosteal ossification and cortical thickening of the skull, phalanges, femur and toe acroosteolysis. Due to the absence of other clinical signs suggesting a secondary cause, we suspected PHO. A genetic study revealed a likely pathogenic variant, c.1259G > T(p.Cys420Phe), in homozygosity in the SLCO2A1 gene, thus confirming the diagnosis. The patient started oral naproxen with significant clinical improvement.

Conclusions
PHO should be kept in the differential diagnosis of inflammatory arthritis affecting children, often misdiagnosed as Juvenile Idiopathic Arthritis (JIA). To the best of our knowledge, this is the second genetically confirmed case of PHO in a Portuguese patient (first variant c.644 C > T), both made at our department.
Utility of the Parkland Grading Scale to determine intraoperative challenges during laparoscopic cholecystectomy: a validation study on 206 patients at an academic medical center in Nepal
Authors: Shrestha Anup , Bhattarai Abhishek , Tamrakar Kishor Kumar , Chand Manoj , Yonjan Tamang Samjhana , Adhikari Sampada , Neupane Harish Chandra 
Published: May 2023

Abstract
Background
Most of the scoring systems to predict difficult laparoscopic cholecystectomy are based on pre-operative clinical and radiological findings. Recently the Parkland Grading Scale system was introduced as a simple intra-operative grading scale. This study aims to utilize the Parkland Grading Scale system to assess the intraoperative challenges during laparoscopic cholecystectomy.

Method
This was a prospective, cross-sectional study done at Chitwan Medical College and Teaching Hospital, Chitwan, Nepal. All the patients underwent laparoscopic cholecystectomy from April 2020 to March 2021. Based on the initial intra-operative finding, Parkland Grading Scale was noted and at the end of the surgery, the level of difficulty was given by the operating surgeon. All the pre-operative, intra-operative, and post-operative findings were compared with the scale.

Results
Out of 206 patients, there were 176 (85.4%) females, and 30 (14.6%) males. The median age was 41 years (Range 19–75). The median body mass index was 23.67 kg/m2. There were 35(17%) patients with a history of previous surgery. The rate of conversion to open surgery was 5.8%. According to Parkland Grading Scale, 67(32.5%), 75(36.4%), 42(20.4%), 15(7.3%), and 7(3.4%) were graded as grade 1, 2, 3, 4, and 5 respectively. There was a difference in the Parkland grading scale in patients with a history of acute cholecystitis, gallbladder wall thickness, pericholecystic collection, stone size, and body mass index (p < 0.05). The total operative time, level of difficulty in surgery, rate of help needed from colleagues or replacement as the main surgeon, bile spillage, drain placement, gallbladder decompression, and conversion rate all increased with an increase in scale (p < 0.05). There was a significant increase in the development of post-operative fever, and post-operative hospital stay as the scale increased (p < 0.05). The Tukey-Kramer test for all pair-wise comparisons revealed that each grade was significantly different from each other (p < 0.05) on the difficulty of surgery except for grade 4 from 5.

Conclusion
Parkland Grading Scale system is a reliable intra-operative grading system to assess the difficulty in laparoscopic cholecystectomy and helps the surgeon to change the strategy of surgery. An increase in scale is associated with an increased difficulty level of the surgery.
Integration of multiomics data shows down regulation of mismatch repair and tubulin pathways in triple-negative chemotherapy-resistant breast tumors
Authors: Tang Xiaojia , Thompson Kevin J. , Kalari Krishna R. , Sinnwell Jason P. , Suman Vera J. , Vedell Peter T. , McLaughlin Sarah A. , Northfelt Donald W. , Aspitia Alvaro Moreno , Gray Richard J. , Carter Jodi M. , Weinshilboum Richard , Wang Liewei , Boughey Judy C. , Goetz Matthew P. 
Published: May 2023

Abstract
Background
Triple-negative breast cancer (TNBC) is the most aggressive breast cancer subtype. Patients with TNBC are primarily treated with neoadjuvant chemotherapy (NAC). The response to NAC is prognostic, with reductions in overall survival and disease-free survival rates in those patients who do not achieve a pathological complete response (pCR). Based on this premise, we hypothesized that paired analysis of primary and residual TNBC tumors following NAC could identify unique biomarkers associated with post-NAC recurrence.

Methods and results
We investigated 24 samples from 12 non-LAR TNBC patients with paired pre- and post-NAC data, including four patients with recurrence shortly after surgery (< 24 months) and eight who remained recurrence-free (> 48 months). These tumors were collected from a prospective NAC breast cancer study (BEAUTY) conducted at the Mayo Clinic. Differential expression analysis of pre-NAC biopsies showed minimal gene expression differences between early recurrent and nonrecurrent TNBC tumors; however, post-NAC samples demonstrated significant alterations in expression patterns in response to intervention. Topological-level differences associated with early recurrence were implicated in 251 gene sets, and an independent assessment of microarray gene expression data from the 9 paired non-LAR samples available in the NAC I-SPY1 trial confirmed 56 gene sets. Within these 56 gene sets, 113 genes were observed to be differentially expressed in the I-SPY1 and BEAUTY post-NAC studies. An independent (n = 392) breast cancer dataset with relapse-free survival (RFS) data was used to refine our gene list to a 17-gene signature. A threefold cross-validation analysis of the gene signature with the combined BEAUTY and I-SPY1 data yielded an average AUC of 0.88 for six machine-learning models. Due to the limited number of studies with pre- and post-NAC TNBC tumor data, further validation of the signature is needed.

Conclusion
Analysis of multiomics data from post-NAC TNBC chemoresistant tumors showed down regulation of mismatch repair and tubulin pathways. Additionally, we identified a 17-gene signature in TNBC associated with post-NAC recurrence enriched with down-regulated immune genes.
Efficacy of stretching exercises versus transcranial direct current stimulation (tDCS) on task performance, kinematic and electroencephalography (EEG) spectrum in subjects with slump posture: a study protocol
Authors: Abdollahzade Zahra , Hadian Mohammad Reza , Khanmohammadi Roya , Talebian Saeed 
Published: May 2023

Abstract

Background
Slump sitting is a common posture in workplaces. There is limited evidence that poor posture impacts the mental state. This study aims to investigate whether slump posture results in more mental fatigue during computer typing, compared with normal posture and also to compare the effectiveness of stretching exercises with tDCS in fatigue monitoring.

Methods
The sample size for this study is set at 36 participants with slump posture and 36 participants with normal posture. In the first step, to find out the differences between normal and poor posture, they will be asked to perform the typewriting task for 60 min. During the first and last 3 min of typing, mental fatigue as the primary outcome using EEG signals and further measures including kinematic behavior of neck, visual analog fatigue scale, and musculoskeletal discomfort will be assessed. Post-experiment task performance will be calculated based on typing speed and typing errors. In the next step, to compare the effect of tDCS and stretching exercises on the outcome measures, the slump posture group will receive these interventions in two separate sessions before the typing task.

Discussion
With the assumption of showing significant differences in terms of outcome measures between slump and normal posture groups and also by showing the possible changes of the measures, by using either tDCS as a central modality or stretching exercises as a peripheral modality; the findings may provide evidence to indicate that poor posture has adverse effect on mental state and to introduce the effective method to overcome mental fatigue and promote work productivity.

Trial registration
Registered on the Iranian Registry of Clinical Trials on 21 September 2022, IRCT Identifier: IRCT20161026030516N2.
Sifting through the Ashes and the Fragments of Bone
Authors: Konrád György , Sherwood Peter 
Published: May 2023

Abstract
In this autobiographical essay, written in 2018 and previously unpublished, the late György Konrád intertwines his memories as a child during World War II with more theoretical reflections (and unanswered questions) on the war, its repercussions, its lessons. Written in Hungarian not long before his death in 2019, Konrád goes back in this essay to the period following the arrest of his parents after the German invasion of Hungary. Aged eleven, he was able to escape the small town where he was born—and hence the fate of its entire Jewish community. “The others had been turned to ash,” in Konrád's chilling words. Seventy years later, he proceeds from these events to reflect on guilt and contrition, on sympathy and empathetic suffering, on how friends can become enemies during war, as well as on the Jewish heritage underlying Christian culture.
Do nurses participate in end-of-life decision making?
Authors: Othman Elham H , Zeilani Ruqayya , AlOsta Mohammad R , Khalaf Inaam A 
Published: May 2023

Background: To explore how Jordanian nurses participate in the end-of-life (EoL) decision-making process. Methods: Interviews with 10 patients and family caregivers, and focus group discussions with seven healthcare professionals (HCPs), were conducted. Interviews were audio-recorded, transcribed and analysed following inductive thematic analysis. Findings: The participants agreed that nurses are not fully engaged and did not have a direct role in the EoL decision-making process. However, the participants highlighted that ‘nurses bridge the gaps in the decision-making process', where nurses act as mediators to facilitate the decision-making process. Lastly, nurses were viewed as ‘nurturers and supporters during the journey of the patient's illness’; they were always available to answer their questions, offer help and advise when necessary during palliative referral and throughout the illness. Conclusions: Although nurses did not directly participate in EoL decisions, they have several vital contributions that need to be rearranged into structured decisional coaching.
Evaluation of health care professionals’ knowledge, attitudes, practices and barriers to pharmacovigilance and adverse drug reaction reporting: A cross-sectional multicentral study
Authors: Khan Zakir , Karatas Yusuf , Hamid Syed Muhammad 
Published: May 2023

Background
Healthcare professionals’ involvement and reporting of adverse drug reactions are essential for the success of a pharmacovigilance program. The aim of this study was to assess healthcare professionals (medical doctors, pharmacists, nurses, dentists, midwives, and paramedics) current knowledge, attitude, practices, and barriers regarding pharmacovigilance and adverse drug reactions reporting in multicentral healthcare settings.

Methods
A cross-sectional face-to-face survey was conducted among currently working healthcare professionals in various hospitals in ten districts of Adana province, Türkiye from March to October 2022. A self-administered, pretested questionnaire (Cronbach’s alpha = 0.894 for knowledge, attitudes and practices variables) was used for data collection. The questionnaire’s final draft included five sections (sociodemographic/general information, knowledge, attitude, practices, and barriers) with 58 questions. The collected data was analyzed in SPSS (version 25) using descriptive statistics, the chi-square test, and logistic regression.

Results
Of the total 435 distributed questionnaires, 412 completed the entire questionnaire, yielding a 94% response rate. The majority of healthcare professionals (60.4%; n = 249) had never received pharmacovigilance training. Among healthcare professionals 51.9% (n = 214), 71.1% (n = 293) and 92.5% (n = 381) had poor knowledge, positive attitudes and poor practices, respectively. Only 32.5% of healthcare professionals kept the record of an adverse drug reaction and only 13.1% reported adverse drug reactions. The profession (medical doctors, pharmacists, nurses, dentists, midwives, and paramedics) of healthcare professionals and a lack of training were predictors of poor adverse drug reaction reporting (p < 0.05). A statistically significant difference in healthcare professionals and knowledge, attitude and practices scores was also observed (p < 0.05). The main barriers which were supposed to discourage adverse drug reactions reporting by the healthcare professionals were higher workload (63.8%) followed by thinking that a single adverse drug reaction report makes no impact (63.6%) and lack of a professional atmosphere (51.9%).

Conclusion
In the current study, most healthcare professionals had poor knowledge and practice, but they had a positive attitude toward pharmacovigilance and adverse drug reactions reporting. Barriers to under-reporting of adverse drug reactions were also highlighted. Periodic training programs, educational interventions, systematic follow-up of healthcare professionals by local healthcare authorities, interprofessional links between all healthcare professionals, and the implementation of mandatory reporting policies are critical for improving healthcare professionals knowledge, practices, patient safety and pharmacovigilance activities.
Parental supervision positively impacts children’s economic prospects two decades later: A prospective longitudinal study
Authors: McGinnis Ellen W. , Halvorson-Phelan Julia , Shanahan Lilly , Guangyu Tong , Copeland William 
Published: May 2023

Importance
Upward income mobility is associated with better health outcomes and reduced stress. However, opportunities are unequally distributed, particularly so for those in rural communities and whose family have lower educational attainment.

Objective
To test the impact of parental supervision on their children’s income two decades later adjusting for parental economic and educational status.

Design
This study is a longitudinal, representative cohort study. From 1993–2000, annual assessments of 1,420 children were completed until age 16, then followed up at age 35, 2018–2021, for further assessment. Models tested direct effects of parental supervision on child income, and indirect effects via child educational attainment.

Setting
This study is an ongoing longitudinal population-based study of families in 11 predominately rural counties of the Southeastern U.S.

Participants
About 8% of the residents and sample are African American and fewer than 1% are Hispanic. American Indians make up 4% of the population in study but were oversampled to make up 25% of the sample. 49% of the 1,420 participants are female.

Main outcomes and measures
1258 children and parents were assessed for sex, race/ethnicity, household income, parent educational attainment, family structure, child behavioral problems, and parental supervision. The children were followed up at age 35 to assess their household income and educational attainment.

Results
Parental educational attainment, income, and family structure were strongly associated with their children’s household income at age 35 (e.g., r = .392, p < .05). Parental supervision of the child was associated with increased household income for the child at age 35, adjusting for SES of the family of origin. Children of parents who did not engage in adequate supervision earned approximately $14,000 less/year (i.e., ~13% of the sample’s median household income) than those who did. The association of parental supervision and child income at 35 was mediated by the child’s educational attainment.

Conclusion and relevance
This study suggests adequate parental supervision during early adolescence is associated with children’s economic prospects two decades later, in part by improving their educational prospects. This is particularly important in areas such as rural Southeast U.S.
Integrity Assessment of Wall Distorted of Buried Gas Pipeline
Authors: Herucakra Wira , Adnyani Luh Putri , Megantoro Lukytoardi 
Published: May 2023

In the oil and gas industry, the pipeline is the main mode to transport the product and can be applied for long-distance transportation; hence some pipe segments may be buried underground. Buckling as the main cause of pipeline deformation and failure is often found at the in-service buried pipeline during inspection activity. Changes in laying conditions such as design and operational parameters, human activity and geological movement can affect the redistribution of deformation that may lead to pipe buckling. This paper presents a methodology that integrates inspection results and finite element analysis for the distorted wall of the pipeline. Inspection reported anomaly cases of wall distorted at buried gas pipeline, and the result will be used to do stress analysis using finite element analysis. Three different conditions within the different treatment of bedding conditions were assessed: pipe buried on uncompacted soil, pipe buried with rock bedding, and pipe buried in compacted soil. The result shows that the deteriorated pipe can be considered acceptable when buried in compacted soil. This condition may be used for further action and consideration, such as a mitigation strategy to maintain the safety and integrity of the deteriorated pipe.
Multi-core/shell SiO2@Al2O3 nanostructures deposited on Ti3AlC2 to enhance high-temperature stability and microwave absorption properties
Authors: Guo Yang , Tan Kehua , Guo Xiaoying , Li Huirong , Jian Xian 
Published: May 2023

Abstract
Poor high-temperature stability (HTS) and weak microwave absorption performance (MAP) are a major restriction for wave-absorbing materials in elevated temperature ambient. Consequently, the Stöber process and the sol–gel method are first devised and used to create multi-core/shell SiO2@Al2O3 nanostructures (MCSNs) on Ti3AlC2 (TAC). The MCSNs with a thickness of 135–215 nm raise the starting oxidation temperature of the matrix by 400°C. Furthermore, the weight gain drops from 17.44 to 2.32% within 1 h at 800°C. The effective absorption bandwidth with a reflection loss (RL) ≤ −10 dB of the MCSNs-coated TAC is 3.25 GHz (8.68–11.27 and 11.63–12.29 GHz) at a thickness of 2.0 mm, which is 4.7 times that of the matrix. The minimum RL is reduced by a factor of 2.77 from −10.68 to −29.55 dB. The enhanced MAP is due to the introduced multiple reflection events and scattering mechanism as well as the enhanced electronic polarization, interface polarization, and polarization relaxation. The growth of the MCSNs provides a reference for the design and preparation of bifunctional materials with good HTS and MAP.
Treatment with camrelizumab plus tyrosine kinase inhibitors with or without TACE for intermediate-advanced hepatocellular carcinoma: a clinical efficacy and safety study
Authors: Yin Yaolin , Li Yonghe , Xiong Yongfu , Xian Yin , Meng Chun , He Kun , He Yi , Li Jingdong 
Published: May 2023

Abstract

Objectives
This research compared the curative effect and safety of camrelizumab plus tyrosine kinase inhibitors (TKIs) combined with transcatheter arterial chemoembolization (TACE) to those of camrelizumab plus TKIs for the treatment of intermediate-advanced hepatocellular carcinoma (HCC).

Methods
From January 2019 to July 2021, 47 patients with intermediate-advanced HCC were included in this retrospective study. After screening, 44 eligible patients were split into two arms: the camrelizumab + TKI + TACE arm (n=28) and the camrelizumab + TKI arm (n=16). The primary endpoints were overall survival (OS) and progression-free survival (PFS), while tumor response and adverse events (AEs) served as secondary endpoints.

Results
The median OS was 12.60 months for the 44 patients. The median PFS (p=0.0248, 7.20 vs. 3 months), objective response rate (ORR) (21.43 vs. 6.25%) and disease control rate (DCR) (57.14 vs. 18.75%) were better for patients in the camrelizumab + TKI + TACE arm than in the camrelizumab + TKI arm. After correcting for the effects of aspartate aminotransferase (AST), alanine aminotransferase (ALT) and total bilirubin (TBil) levels, the treatment effect of the camrelizumab + TKI + TACE arm (HR=0.330, 95% CI=0.130–0.880, p=0.026) was still superior. The common AEs in the two groups included reactive cutaneous capillary hyperplasia (n=17), myelosuppression (n=19) and liver dysfunction (n=12). However, AEs of grade ≥3 were equal between the groups.

Conclusions
Camrelizumab + TKI + TACE therapy was more effective than camrelizumab + TKI therapy for intermediate-advanced HCC, and toxicity was manageable.