bluuebunny/crossref_metadata_2025_split huggingface dataset:
Seminal plasma metabolomics and lipidomics profiling to identify signatures of pituitary stalk interruption syndrome
Authors: Guo Ye , Li Xiaogang , Wang Xi , Li Haolong , Luo Guoju , Si Yongzhen , Wu Xueyan , Li Yongzhe 
Published: July 2022

Abstract
Background
Pituitary stalk interruption syndrome (PSIS) is a rare disease caused by congenital pituitary anatomical defects. The underlying mechanisms remain unclear, and the diagnosis is difficult. Here, integrated metabolomics and lipidomics profiling were conducted to study the pathogenesis of PSIS.

Methods
Twenty-one patients with PSIS (BD group) and twenty-three healthy controls (HC group) were enrolled. Basal information and seminal plasma samples were collected. Untargeted metabolomics and lipidomics analyses were performed using ultraperformance liquid chromatography-quadrupole time-of-flight mass spectrometry (UPLC-QTOF-MS).

Results
The metabolomics and lipidomics profiles of patients with PSIS changed. The prolactin signaling pathway and biosynthesis of amino acids were the main differentially modified metabolic pathways. The main differentially modified metabolites were triacylglycerols (TGs), phosphatidylethanolamine (PE), sphingomyelin (SM), ceramide (Cer) and phosphatidylcholines (PCs). Pregnenolones and L-saccharopine could achieve a diagnosis of PSIS.

Conclusions
Pregnenolones and L-saccharopine are potential biomarkers for a PSIS diagnosis.
Burden associated with Fabry disease and its treatment in 12–15 year olds: results from a European survey
Authors: Bashorum Lisa , McCaughey Gerard , Evans Owen , Humphries Ashley C. , Perry Richard , MacCulloch Alasdair 
Published: July 2022

Abstract
Background
Fabry Disease (FD) is a rare X-linked metabolic lysosomal disorder. FD has a broad range of symptoms which vary markedly between patients. The heterogenous nature of the disease makes diagnosis difficult for health care professionals (HCPs), which in turn has a significant effect on the patient’s quality of life (QoL). As few adolescent patients are eligible for treatment, to date there has been little published data on the burden of disease and impact of treatment on these patients and their caregivers. This study was developed to provide some insight into these groups.

Methods
An online-based survey was performed to gather further insights on the burden of FD in 14 adolescents aged 12–15 years old across three European countries, from the perspective of the patients, caregivers and HCPs.

Results
Symptom burden was found to be high in the adolescent population, with ‘pain’ and ‘intolerance to heat or cold’ commonly reported symptoms, both by patients and to HCPs. Eleven of the 14 patients surveyed were receiving enzyme replacement therapy (ERT), with their post-ERT symptomology showing improvement when compared to symptoms before receiving ERT. The majority of caregivers believe their child’s overall health has improved since starting ERT. While there was a positive outlook towards ERT noted by the patients and caregivers, 4/5 HCPs believed there is ‘a need for more efficacious treatment options’ and all HCPs noted that there is ‘a need for more manageable treatment options’. FD was shown to place a burden on caregivers, who reported feelings of guilt and absences from work.

Conclusions
Data show there is a significant symptom burden for the adolescent, which affects their QoL and mental health, as well as placing a burden on the wider family. While ERT is an effective treatment and provides symptom relief for many of the respondents in the survey, they still reported symptom burden. Additionally, there was reporting of reluctance to engage in treatment or difficulties associated with the treatment. Heterogeneity in symptom presentation suggests that the treatment regimen needs to be tailored to the individual. Physicians therefore need to have a choice of treatment options available to help them manage symptoms and disease where the benefit to risk ratio is in favour of undergoing treatment.
A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex
Authors: So Jodi Y. , Fulchand Shivali , Wong Christine Y. , Li Shufeng , Nazaroff Jaron , Gorell Emily S. , de Souza Mark P. , Murrell Dedee F. , Teng Joyce M. , Chiou Albert S. , Tang Jean Y. 
Published: July 2022

Abstract
Background
Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age.

Methods
Patients with a diagnosis of epidermolysis bullosa (EB) or their caregivers completed a one-time online survey administered by EBCare, an international online EB registry. Survey data from respondents self-reporting a diagnosis of EBS were analyzed for clinical and wound manifestations, medication use, and QOL (using Quality of Life in Epidermolysis Bullosa [QOLEB] scores). Differences across age groups were assessed using Kruskal–Wallis and Fisher’s exact tests.

Results
There were 214 survey respondents with EBS. The mean age was 32.8 years (standard deviation = 19.2). Many respondents reported blisters (93%), recurrent wounds (89%), pain (74%), chronic wounds (59%), itch (55%), and difficulty walking (44%). Mean QOLEB score was 14.7 (standard deviation = 7.5) indicating a “moderate” impact on QOL, and 12% of respondents required regular use of opiates. Findings were consistent in subgroup analyses restricted to respondents with diagnostic confirmation via genetic testing or skin biopsy (n = 63 of 214). Age-stratified analyses revealed differences in disease burden: younger respondents were more likely to self-report severe disease (24% vs. 19% vs. 5% for respondents aged 0–9 vs. 10–17 vs. 18 + , p = 0.001), failure to thrive (9% vs. 15% vs. 3%, p = 0.02), and use of gastrostomy tubes (15% vs. 12% vs. 1%, p < 0.001) and topical antibiotics (67% vs. 69% vs. 34%, p < 0.001), while older respondents were more likely to be overweight or obese (6% vs. 0% vs. 51%, p < 0.001) and have difficulty walking (24% vs. 46% vs. 48%, p = 0.04).

Conclusions
In the largest international cross-sectional survey of EBS patients conducted, respondents reported extensive disease burden including significant wounding, pain, itch, difficulty walking, and impact on QOL. Age stratified disease manifestations. These findings suggest significant unmet need, and treatment and counseling for EBS patients should consider age-specific differences.
Langerhans cell histiocytosis in adolescent patients: a single-centre retrospective study
Authors: Cai Hua-cong , Chen Jia , Liu Ting , Cai Hao , Duan Ming-hui , Li Jian , Zhou Dao-bin , Cao Xin-xin 
Published: July 2022

Abstract
Background
Langerhans cell histiocytosis (LCH) is a myeloid dendritic cell disorder frequently affecting children more than adults. The presentation of LCH varies with age, however, the clinical characteristics and genetic profiles of adolescent LCH remain elusive. To address the knowledge gap, we performed a single-centre retrospective study of 36 adolescent LCH patients aged between 14 and 17 years at Peking Union Medical College Hospital.

Results
At the time of diagnosis, 10 patients were classified as unifocal single system LCH (27.8%), 2 patients had pulmonary single system LCH (5.6%), 5 patients had multifocal single system LCH with bone involvement (13.9%), and 19 patients had multisystem LCH (52.8%). The most prevalent involvement in multisystem patients was the pituitary gland (78.9%), followed by the bone (42.1%), lung (42.1%), and lymph nodes (42.1%). Eight (42.1%) patients had risk organ involvement. BRAFN486_P490 was detected in 50% of patients who underwent next generation sequencing, and BRAFV600E was detected in one patient. Chemotherapies were the first line treatment in 24 patients. One patient died and thirteen patients relapsed during the follow-up. The estimated 5-year OS rate and EFS rate were 94.7% and 59.0%, respectively.

Conclusions
In this study, we report a large series of adolescent LCH patients. The clinical characteristics of adolescent LCH patients may be close to adult LCH. Compared with pediatric cases, adolescent LCH tends to have more pituitary lesions and pulmonary involvement, fewer skin and hematopoietic involvement, a higher frequency of BRAF deletion mutation, and a lower frequency of BRAFV600E mutation.
Models of care for non-communicable diseases for displaced populations in Iraq: a scoping review
Authors: Schmid Benjamin , Ansbro Éimhín , Raju Emmanuel , Willis Ruth , Shabila Nazar , Perel Pablo 
Published: July 2022

AbstractNon-communicable diseases (NCDs) are the leading cause of death and disability globally. Their importance in humanitarian settings is increasingly recognised, but evidence about how best to address NCDs in these setting is limited. This scoping review aimed to explore models of NCD care for displaced populations in Iraq, in order to build evidence to design context adapted models of care. A search of key databases (Medline, Embase, Scopus, EconLit, Global Health, Web of Science, and the Iraqi Academic Scientific Journals) was conducted and complemented with grey literature and snowballing searches. Documents were included if they referred to models of NCD care for displaced populations. We synthesised the data using a conceptual model of care framework. The findings were reported according to the PRISMA guidelines for scoping reviews. We identified 4036 documents of which 22 were eligible for inclusion. Only six documents were peer-reviewed studies with most being internal reports, commentaries, or press releases. Of the 14 documents that reported on their methods, most applied quantitative approaches (n = 7), followed by mixed-methods (n = 5) and qualitative approaches (n = 2). Only one document reported on outcome data and none applied longitudinal study designs. Documents generally described individual framework dimensions, mostly centring around medicines, facility-based services, and selected access dimensions. Most dimensions had few or no references. The most common model for displaced populations in Iraq was primary-level centred care that complemented or supported existing—mostly tertiary—public health system structures. Additionally, private facilities played an important role and were frequently accessed by displaced populations in most settings. Quality of care, particularly patient-perceived quality, emerged as a critical factor for designing context-adapted models of NCD care. This review also identified a strong regionality of NCD care, particularly in terms of access rates and barriers. We concluded that there is a scarcity of evidence on the effectiveness of models of NCD care for displaced populations in Iraq, calling for capacity building initiatives focused on implementation research and evaluation.
Healthcare professionals’ perceptions of interprofessional teamwork in the emergency department: a critical incident study
Authors: Milton Jenny , Erichsen Andersson Annette , Åberg N. David , Gillespie Brigid M. , Oxelmark Lena 
Published: July 2022

Abstract
Background
Interprofessional teams contribute to patient safety during clinical care. However, little is known about how interprofessional teams manage and cope with critical incidents in the emergency department (ED). Therefore, the study aimed to describe healthcare professionals (HCPs) perceptions of critical incidents linked to the enablers of and barriers to interprofessional teamwork in a high-risk setting, the ED.

Methods
Individual interviews with HCPs regarding events at the ED were held during the period of May 2019–January 2020. The Critical Incident Technique approach was used to guide the interviews and the qualitative analysis. Data were analyzed inductively using qualitative content analysis.

Results
Interview participants (n = 28) included 7 physicians (25%), 12 registered nurses (43%), 7 nurse assistants (25%) and 2 administrators (7%). Overall, 108 critical incidents were described. Eight categories that described functional and dysfunctional experiences within interprofessional teamwork were identified: salience of reflection; professional experience makes a difference; demanding physical and psychosocial work environment; balancing communication demands; lacking management support, structure, and planning; tensions between professional role and responsibility; different views on interprofessional teamwork; and confidence in interprofessional team members.

Conclusion
Findings of this study indicate that poor ED-specific communication and limited professional experience are essential factors in handling critical incidents related to interprofessional teamwork. An important aspect of critical incident management is the ergonomics of the physical work environment and how it enables interprofessional teamwork. This study emphasizes the factors enabling interprofessional teamwork to manage critical incidents in the complex working environment of the ED.
Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges
Authors: Banderali Giuseppe , Capra Maria Elena , Biasucci Giacomo , Stracquadaino Rita , Viggiano Claudia , Pederiva Cristina 
Published: July 2022

Abstract
Background
It is now well established that atherosclerosis begins in childhood and evolves through adolescence and young adulthood, ultimately resulting in myocardial infarction and stroke in adults.

Main test
Childhood is a critical phase during which atherosclerosis may begin to develop; in the presence of familial hypercholesterolemia, lifelong elevation of Low Density Lipoprotein cholesterol levels greatly accelerates atherosclerosis. These concepts, which have been largely developed from epidemiologic evidence, have not always been simple to implement in the paediatric clinical practice.
The purpose of this article is to briefly review but also to highlight the rationale, the motivation and the methods in the process of identifying children and adolescents with familial hypercholesterolemia, an often hidden but very important genetic disease.
Adolescent gambling behavior: a gender oriented prevention strategy is required?
Authors: Buja Alessandra , Sperotto Milena , Genetti Bruno , Vian Paolo , Vittadello Fabio , Simeoni Elisabetta , Zampieri Chiara , Baldo Vincenzo 
Published: July 2022

Abstract
Background
Studies published on gender-related differences in the gambling behavior of adolescents have focused mainly on psychological and social factors. The aim of this study was to develop separate risk factor models for male and female adolescents, considering the environmental, psychological, behavioral and socio-economic factors related to their gambling.

Methods
A survey was conducted through a questionnaire developed on a dedicated web site in 2014 on a representative sample of the Italian 15–19-years-old population, including 34,922 students attending 438 secondary schools. The SOGS-RA questionnaire was used to measure gambling behavior. To verify the risk factors associated with gambling a logistic regression stratified by gender was performed.

Results
In our representative sample of Italian adolescents nationwide, the prevalence of each level of gambling was higher in males than in females. The logistic regression stratified by gender found that for both genders, gambling was positively associated with internet surfing, playing sports, getting into a fight, having unprotected sex, pulling stunts, drinking alcohol at least once in the previous month, having not a satisfactory relationship with teachers, receiving pocket money from parents, spending each week much money and having someone in the family (father, sister/brother, other relatives) who gambles. On the other hand, having poor or average school marks, going to ED in the previous year, smoking at least once in the previous month, having dissatisfied with relationships with father and having a lower family income than their friends was only associated with gambling in boys. Having an accident or injury in the previous year and having a mother who gambled was associated only in girls with higher odd of at risk or problem gambling behavior. A low psychological distress is protective only in girls for risk of gambling.

Conclusions
Understanding the gender-related differences, and how they emerge in younger people at the start of their gambling careers, can suggest how best to educate individuals, families and the community on the topic of gambling. Programs to prevent substance use and abuse should be multifaceted, and include efforts to prevent gambling with a gender perspective approach.
A dangerous food binge: a case report of hypokalemic periodic paralysis and review of current literature
Authors: Colucci Maria Carolina , Triolo Marica Fabiana , Petrucci Simona , Pugnaloni Flaminia , Corsino Massimiliano , Evangelisti Melania , D’Asdia Maria Cecilia , Di Nardo Giovanni , Garibaldi Matteo , Terrin Gianluca , Parisi Pasquale 
Published: July 2022

Abstract
Background
Hypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodic paralysis (HEKPP), hypokalemic periodic paralysis (HOKPP) and Andersen-Tawil syndrome (ATS). Clinical presentations are mostly characterized by episodes of flaccid generalized weakness with transient hypo- or hyperkalemia.

Case presentation
A teenage boy presented to Emergency Department (ED) for acute weakness and no story of neurological disease, during the anamnestic interview he revealed that he had a carbohydrates-rich meal the previous evening. Through a focused diagnostic work-up the most frequent and dangerous causes of paralysis were excluded, but low serum potassium concentration and positive family history for periodic paralyses raised the diagnostic suspicion of HOKPP. After the acute management in ED, he was admitted to Pediatric Department where a potassium integration was started and the patient was counselled about avoiding daily life triggers. He was discharged in few days. Unfortunately, he presented again because of a new paralytic attack due to a sugar-rich food binge the previous evening. Again, he was admitted and treated by potassium integration. This time he was strongly made aware of the risks he may face in case of poor adherence to therapy or behavioral rules.
Currently, after 15 months, the boy is fine and no new flare-ups are reported.

Conclusion
HOKPP is a rare disease but symptoms can have a remarkable impact on patients’ quality of life and can interfere with employment and educational opportunities. The treatment aims to minimize the paralysis attacks by restoring normal potassium level in order to reduce muscle excitability but it seems clear that a strong education of the patient about identification and avoidance triggering factors is essential to guarantee a benign clinical course. In our work we discuss the typical clinical presentation of these patients focusing on the key points of the diagnosis and on the challenges of therapeutic management especially in adolescence. A brief discussion of the most recent knowledge regarding this clinical condition follows.
Heterogeneity in the psychosocial and behavioral responses associated with a diagnosis of suspected Lynch syndrome in women with endometrial cancer
Authors: Jonnagadla Sowmya , Joseland Sharelle L. , Saya Sibel , den Elzen Nicole , Isbister Joanne , Winship Ingrid M. , Buchanan Daniel D. 
Published: July 2022

AbstractBackgroundA suspected Lynch syndrome (SLS) diagnosis is made when a tumor exhibits DNA mismatch repair deficiency but cannot be definitively assigned to an inherited or non-inherited etiology. This diagnosis poses challenges for healthcare professionals, patients, and their families in managing future cancer risks and clinical care.MethodsThis qualitative study aimed to explore the psychosocial and behavioral responses of endometrial cancer (EC) patients receiving a SLS diagnosis (EC-SLS). Semi-structured telephone interviews were conducted with 15 EC-SLS women, transcribed, and thematically analyzed.ResultsMost who interpreted their result as negative for Lynch syndrome (LS) believed they were at population-level risk of cancer and felt happy and relieved. Many participants who interpreted their result as inconclusive/not definitive for LS were confused about their cancer risk and experienced negative emotions of anger and frustration. Despite variation in colorectal cancer screening recommendations reported by participants, most adhered to the advice given. Almost all participants communicated their genetic test result to immediate family members; however, communication of family cancer risk management advice was more limited due to most participants reporting not receiving family screening advice. A family history of cancer and a professional healthcare background influenced participants’ engagement in regular cancer screening.ConclusionThese findings highlight variability in the psychosocial and behavioral responses associated with EC-SLS, providing insight into how healthcare professionals can optimally manage and support such individuals.
Proton pump inhibitor in the prevention of upper gastrointestinal mucosal injury associated with dual antiplatelet therapy after coronary artery bypass grafting (DACAB-GI-2): study protocol for a randomized controlled trial
Authors: Zhu Yunpeng , Wang Xiaojin , Yang Yi , Liu Lei , Zhao Qiang , Yu Lifen 
Published: July 2022

Abstract
Background
Dual antiplatelet therapy (DAPT) is recommended in secondary prevention after coronary artery bypass grafting (CABG), but it is inevitably associated with the risk of bleeding, of which gastrointestinal bleeding accounts for more than half. Proton pump inhibitors (PPIs) may increase the risk of major cardiovascular adverse events when reducing the risk of upper gastrointestinal bleeding. Therefore, the optimal duration of a PPI in combination with DAPT is unclear.

Methods
The “Proton Pump Inhibitor Preventing Upper Gastrointestinal Injury in Patients on Dual Antiplatelet Therapy after CABG” (DACAB-GI-2) study is a prospective, single-center, open-label, parallel, randomized controlled trial. A total of 232 eligible subjects who are scheduled or initiated on DAPT (clopidogrel plus aspirin or ticagrelor plus aspirin) for 12 months immediately after CABG will be enrolled and be randomized in a 1:1 ratio to either a 12-month pantoprazole treatment arm or a 1-month treatment arm. The primary outcome is to assess the rate of gastroduodenal erosions and ulcers evaluated by esophagogastroduodenoscopy (EGD) within 12 months after randomization, based on the modified Lanza score. Secondary outcomes include reflux esophagitis and upper gastrointestinal bleeding. Other pre-specified outcomes include major adverse cardiovascular events, graft failure, and all-cause death.

Discussion
This study aims to compare the efficacy and safety of 12 months and 1 month of pantoprazole treatment in preventing DAPT-related upper gastrointestinal mucosal injury after CABG.

Trial registration
ClinicalTrials.gov NCT03908593.