bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rates and correlates of psychological distress and PTSD among persons with physical disabilities in Cambodia
Authors: Maddock Alan , Best Paul , Ean Nil , Armour Cherie , Ramstrand Nerrolyn 
Published: February 2023

Abstract
Background
Compared to the general population, persons with disabilities are at increased risk of poor mental health. The aim of this study was to determine the rates and correlates of psychological distress and post-traumatic stress disorder (PTSD) among persons with physical disabilities in Cambodia.

Methods
From July to December 2021 data were collected as part of a mental health screening programme for persons with physical disabilities who access prosthetic and orthotic services. Psychological distress was measured using the Kessler-10 (K-10) and PTSD using the PC-PTSD-5. Bivariate and multiple linear regression analyses were conducted to identify factors associated with levels of psychological distress and PTSD among this population.

Results
Our study found a high prevalence of psychological distress and PTSD in this patient cohort. Of the 213 participants, 31.5% were likely to be experiencing mild to moderate psychological distress indicative of a mental health disorder, with 13.6% likely to have a severe mental health disorder. Sixty-five percent of patients reported experiencing PTSD symptoms, with forty-six percent meeting the criteria for probable PTSD. Psychological distress was associated with pathological worry, rumination, and facets of mindfulness. Rumination and pathological worry were found to be significant predictors of psychological distress. PTSD symptoms were associated with pathological worry but not facets of mindfulness or rumination. Facets of mindfulness and pathological worry were found to be significant predictors of PTSD.

Conclusion
Integration of mental health services within the disability sector is required to address psychological distress and PTSD symptoms among people with physical disabilities in Cambodia. Health system interventions, such as screening, referral, and the training of health providers, need to be strengthened. Further studies focussing on the psychosocial determinants of mental health of persons with disabilities in Cambodia are required.
A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report
Authors: Cui Jiantao , Chen Xiuying , Zhai Qian , Chen Na , Li Xiaodan , Zhang Yuli , Wang Hui , Bian Xin , Gao Na , Chen Deyi , Chen Zhihong , Zhang Shibiao , Chen Yan 
Published: February 2023

Abstract
Background
Defect in proofreading exonuclease activity of polymerases epsilon and delta (Pols ε and δ) leads to mutagenesis and genomic instability and has been described in several cancer types. Somatic POLE exonuclease domain mutations (EDMs) have been reported in 7–12% endometrial cancers (ECs) and defined a subgroup of endometrial cancers with ultrahigh somatic mutation frequencies, high tumor infiltrated lymphocytes and favorable outcomes.

Case presentation
Herein, we presented a novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer. A novel POLE EDM (p.T278K) was found by a 11-gene NGS panel. The MSS status detected by the MSI test was inconsistent with the dMMR status by IHC. The loss of MSH6 expression in the tumor could be interpreted by the two nonsense mutations (p.E1234* and p.E1322*) of the MSH6 gene which may lead to truncated proteins. The T278K mutation was pathogenic identified by a 602-gene NGS panel with 27.3% of C > A substitution, 0.6% of indels, 0.6% of C > G substitution and a high TMB of 203.8 mut/Mb.

Conclusions
We report an endometrial cancer patient harbored a novel somatic POLE T278K mutation. This mutation was a novel pathogenic POLE EDM should be considered as “POLE (ultramutated)” in clinical practice for the molecular classification of EC.
What do we know about pathological mechanism and pattern of lung injury related to SARS-CoV-2 Omicron variant?
Authors: Scendoni Roberto , Cingolani Mariano 
Published: February 2023

AbstractPulmonary damage in SARS-CoV-2 is characterized pathologically by diffuse alveolar damage (DAD) and thrombosis. In addition, nosocomial bacterial superinfections and ventilator-induced lung injury (VILI) are likely to occur. The SARS-CoV-2 Omicron variant have manifested itself as a more diffusive virus which mainly affects the upper airways, such as the nose and pharynx. The mechanism leading to a lung injury with a complex clinical course for the Omicron SARS-CoV-2 variant remains unclear. A key question is whether the organ damage is due to direct organ targeting of the virus or downstream effects such as an altered immune response. An immune escape process of Omicron variant is being studied, which could lead to prolonged viral shedding and increase hospitalization times in patients with comorbidities, with an increased risk of pulmonary co-infections/superinfections and organ damage. This brief commentary reports the current knowledge on the Omicron variant and provides some useful suggestions to the scientific community.
Translational molecular imaging and drug development in Parkinson’s disease
Authors: Haider Achi , Elghazawy Nehal H. , Dawoud Alyaa , Gebhard Catherine , Wichmann Thomas , Sippl Wolfgang , Hoener Marius , Arenas Ernest , Liang Steven H. 
Published: February 2023

AbstractParkinson’s disease (PD) is a progressive neurodegenerative disorder that primarily affects elderly people and constitutes a major source of disability worldwide. Notably, the neuropathological hallmarks of PD include nigrostriatal loss and the formation of intracellular inclusion bodies containing misfolded α-synuclein protein aggregates. Cardinal motor symptoms, which include tremor, rigidity and bradykinesia, can effectively be managed with dopaminergic therapy for years following symptom onset. Nonetheless, patients ultimately develop symptoms that no longer fully respond to dopaminergic treatment. Attempts to discover disease-modifying agents have increasingly been supported by translational molecular imaging concepts, targeting the most prominent pathological hallmark of PD, α-synuclein accumulation, as well as other molecular pathways that contribute to the pathophysiology of PD. Indeed, molecular imaging modalities such as positron emission tomography (PET) and single-photon emission computed tomography (SPECT) can be leveraged to study parkinsonism not only in animal models but also in living patients. For instance, mitochondrial dysfunction can be assessed with probes that target the mitochondrial complex I (MC-I), while nigrostriatal degeneration is typically evaluated with probes designed to non-invasively quantify dopaminergic nerve loss. In addition to dopaminergic imaging, serotonin transporter and N-methyl-D-aspartate (NMDA) receptor probes are increasingly used as research tools to better understand the complexity of neurotransmitter dysregulation in PD. Non-invasive quantification of neuroinflammatory processes is mainly conducted by targeting the translocator protein 18 kDa (TSPO) on activated microglia using established imaging agents. Despite the overwhelming involvement of the brain and brainstem, the pathophysiology of PD is not restricted to the central nervous system (CNS). In fact, PD also affects various peripheral organs such as the heart and gastrointestinal tract – primarily via autonomic dysfunction. As such, research into peripheral biomarkers has taken advantage of cardiac autonomic denervation in PD, allowing the differential diagnosis between PD and multiple system atrophy with probes that visualize sympathetic nerve terminals in the myocardium. Further, α-synuclein has recently gained attention as a potential peripheral biomarker in PD. This review discusses breakthrough discoveries that have led to the contemporary molecular concepts of PD pathophysiology and how they can be harnessed to develop effective imaging probes and therapeutic agents. Further, we will shed light on potential future trends, thereby focusing on potential novel diagnostic tracers and disease-modifying therapeutic interventions.
Patterns of malpractice claims and compensation after surgical procedures: a retrospective analysis of 8,901 claims from the Finnish patient insurance registry
Authors: Welling Maiju , Takala Annika 
Published: February 2023

Abstract
Background
Invasive surgical procedures carry risk of harm to patients. In addition to avoidable harm, disparities between patient expectations and the outcome of a procedure may lead to patient injury claims. The follow-up of claims and compensation is an important entity for patient safety. The number of claims should be related to the surgical volume, so that a healthcare provider can benchmark with similar organizations and see if its trends are developing favourably or deteriorating. Our objective was to find out the claims and compensation rates due to surgery in an insurance-based system.

Methods
Data related to surgical claims and reference volume in the period 2011–2015 were collected from the claim register of the Finnish Patient Insurance Centre and benchmarking community register of Finnish operating departments. The data included age, gender, hospital, year of surgery, surgical code, and outcome of the claim.

Results
There were 8,901 claims related to the corresponding reference group of 1,470,435 surgical procedures. The claims rate was 0.61% and compensation rate was 0.22%. Trends for claims and compensation rates decreased over the study period. In high volume procedures, a low compensation rate was detected for excision of tonsils and adenoids, Caesarean section and extracapsular cataract operations using the phacoemulsification technique. A high compensation rate was detected for primary prosthetic replacement of the hip and knee joints and decompression of spinal cord and nerve roots. Unreasonable injury (death or permanent deterioration of health) was compensated in 2.4 per 100,000 procedures.

Conclusions
Register data research in a no-fault patient insurance system revealed a claims rate of 6 per 1,000 procedures and compensation rate of 2 per 1,000 procedures. A decreasing trend in both rates over the study period was detected. Different surgical procedures exhibit varying claims and compensation rates.
Prenatal diagnosis of ultrasound soft markers in a single medical center of mainland China
Authors: Zhou Yanhong , Wu Siqi , Han Jin , Zhen Li , Yang Xin , Li Ru , Zhang Yongling , Jing Xiangyi , Li Fucheng , Liu Huishu 
Published: February 2023

Abstract
Background
There are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in fetuses with different USMs.

Methods
This study included fetuses with USMs who underwent invasive prenatal diagnosis for karyotype and/or chromosomal microarray (CMA) by categorizing into two groups: a single USM (SUSM) and multiple USMs (MUSMs).

Results
Of the 358 cases with USMs, CSCA occurred in 3.09% (8/259) and 8.08% (8/99) of the SUSM and MUSM groups, respectively (P < 0.05). Of 16 cases identified with CSCA, theoretically 68.75% (11/16) could be detected by karyotype, while 31.25% (5/16) could be recognized only by CMA. Among CSCA cases, the most frequent USM was an absent or hypoplastic nasal bone (62.5%, 10/16). In cases with negative karyotypes and/or CMA, follow-up results were available in 307 cases, including 292 term deliveries, 6 preterm deliveries, 8 terminations of pregnancy due to USMs, and 1 still birth.

Conclusion
MUSMs increased the risk of chromosomal abnormalities. An absent or hypoplastic nasal bone was the most clinically significant marker either alone or in combination with other USMs. Most of SUSM had a good prognosis.
The Michigan Genetic Hereditary Testing (MiGHT) study’s innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm randomized controlled trial
Authors: Gerido Lynette Hammond , Griggs Jennifer J. , Resnicow Ken , Kidwell Kelley M. , Delacroix Emerson , Austin Sarah , Hanson Erika N. , Bacon Elizabeth , Koeppe Erika , Goodall Stefanie , Demerath Matthew , Rizzo Elizabeth A. , Weiner Shayna , Hawley Sarah T. , Uhlmann Wendy R. , Roberts J. Scott , Stoffel Elena M. 
Published: February 2023

Abstract
Background
Although most cancers are sporadic, germline genetic variants are implicated in 5–10% of cancer cases. Clinical genetic testing identifies pathogenic germline genetic variants for hereditary cancers. The Michigan Genetic Hereditary Testing (MiGHT) study is a three-arm randomized clinical trial that aims to test the efficacy of two patient-level behavioral interventions on uptake of cancer genetic testing.

Methods
The two interventions being tested are (1) a virtual genetics navigator and (2) motivational interviewing by genetic health coaches. Eligible participants are adults with a diagnosis of breast, prostate, endometrial, ovarian, colorectal, or pancreatic cancer who meet the National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Participants are recruited through community oncology practices affiliated with the Michigan Oncology Quality Consortium (MOQC) and have used the Family Health History Tool (FHHT) to determine testing eligibility. The recruitment goal is 759 participants, who will be randomized to usual care or to either the virtual genetics navigator or the motivational interviewing intervention arms. The primary outcome will be the proportion of individuals who complete germline genetic testing within 6 months.

Discussion
This study addresses patient-level factors which are associated with the uptake of genetic testing. The study will test two different intervention approaches, both of which can help address the shortage of genetic counselors and improve access to care.

Trial registration
This study has been approved by the Institutional Review Board of the University of Michigan Medical School (HUM00192898) and registered in ClinicalTrials.gov (NCT05162846).
Prevalence of canine heartworm infection in Queensland, Australia: comparison of diagnostic methods and investigation of factors associated with reduction in antigen detection
Authors: Constantinoiu Constantin , Croton Catriona , Paterson Mandy B. A. , Knott Lyn , Henning Joerg , Mallyon John , Coleman Glen T. 
Published: February 2023

AbstractBackgroundThe prevalence ofDirofilaria immitisinfection in dogs is increasing globally and spreading into new areas. Prevalence of dirofilariosis in the state of Queensland, Australia, was as high as 90% before the introduction of macrocyclic lactones. Limited research on prevalence ofD. immitisinfection in dogs in Queensland has been reported in the last 30 years. Antigen testing is the most common method for detection of dirofilariosis but its accuracy is reduced by antigen getting trapped (blocked antigen) in immune complexes (ICs). The objectives of this research were to determine the prevalence ofD. immitisinfection in dogs from two geographical areas (Brisbane and Townsville) in Queensland, to determine the extent to which blocked antigen affects the validity of antigen testing, and to explore whether this was associated with microfilaraemia, location, age or sex.MethodsBlood samples from Brisbane (sub-tropical climate) and Townsville (tropical climate) shelter dogs were evaluated for the presence ofD. immitisantigen before (conventional antigen testing, CAT) and after dissociation of ICs by heat treatment (antigen testing after heat treatment, ATHT), using a commercially available test. Microfilariae were detected using modified Knott’s test (MKT). Test proportions were compared with McNemar’s test and the association between antigen test-discordant results (positive for antigen after dissociation of ICs) and microfilaraemia, location, sex and age was modelled using logistic regression.ResultsDirofilaria immitisprevalence in dogs from Townsville (22% by CAT, 32.1% by ATHT and 16.7% by MKT) was significantly higher than in dogs from Brisbane (1.1% by CAT and MKT and 1.7% by ATHT)$$(P< 0.001)$$(P<0.001). Dissociation of ICs allowed detection of significantly moreD. immitisinfected dogs than either conventional antigen testing or microfilariae detection, or the combined antigen and microfilariae detection$$(P< 0.001)$$(P<0.001). The odds of dogs being positive for antigen after dissociation of ICs were significantly higher for microfilaraemic, 3–4-year-old female dogs from Townsville.ConclusionsThe high prevalence of infection withD. immitisin dogs from Townsville poses a health risk for local susceptible host species, including humans. Dissociation of ICs increases antigen detection and should be considered in dogs suspected ofD. immitisinfection but negative on routine testing.Graphical Abstract
Cartilage tissue turnover increases with high- compared to low-intensity resistance training in patients with knee OA
Authors: Thudium Christian S. , Engstrøm Amalie , Bay-Jensen Anne-Christine , Frederiksen Peder , Jansen Nuria , De Zwart Arjan , van der Leeden Marike , Dekker Joost , Lems Willem , Roorda Leo , van Spil Willem Evert , Van der Esch Martin 
Published: February 2023

Abstract
Objectives
To investigate cartilage tissue turnover in response to a supervised 12-week exercise-related joint loading training program followed by a 6-month period of unsupervised training in patients with knee osteoarthritis (OA). To study the difference in cartilage tissue turnover between high- and low-resistance training.

Method
Patients with knee OA were randomized into either high-intensity or low-intensity resistance supervised training (two sessions per week) for 3 months and unsupervised training for 6 months. Blood samples were collected before and after the supervised training period and after the follow-up period. Biomarkers huARGS, C2M, and PRO-C2, quantifying cartilage tissue turnover, were measured by ELISA. Changes in biomarker levels over time within and between groups were analyzed using linear mixed models with baseline values as covariates.

Results
huARGS and C2M levels increased after training and at follow-up in both low- and high-intensity exercise groups. No changes were found in PRO-C2. The huARGS level in the high-intensity resistance training group increased significantly compared to the low-intensity resistance training group after resistance training (p = 0.029) and at follow-up (p = 0.003).

Conclusion
Cartilage tissue turnover and cartilage degradation appear to increase in response to a 3-month exercise-related joint loading training program and at 6-month follow-up, with no evident difference in type II collagen formation. Aggrecan remodeling increased more with high-intensity resistance training than with low-intensity exercise.
These exploratory biomarker results, indicating more cartilage degeneration in the high-intensity group, in combination with no clinical outcome differences of the VIDEX study, may argue against high-intensity training.
Sex-specific mechanisms for eating disorder risk in men and women with autistic traits: the role of alexithymia
Authors: Moseley R. L. , Atkinson C. , Surman R. , Greville-Harris M. , May L. , Vuillier L. 
Published: February 2023

Abstract
Background
A poorly understood relationship exists between eating disorders (ED) and autism spectrum conditions (ASC: henceforth ‘autism’). ED are more prevalent in autistic people and people with high autistic traits, and autistic features are prognostic of longer illness. Aiming to understand what increases the risk of ED in relation to autism and autistic traits, previous research has implicated alexithymia as a causal mechanism in this relationship. These studies could not, however, disentangle whether alexithymia explains the relationship between ED pathology and autistic traits directly or through its impact on anxious/depressive symptoms, which in turn result in higher ED symptomatology. Moreover, despite evidence for sex differences in the aetiology of ED, little research has examined the impact of sex on these relationships.

Methods
Focusing on the association between autistic traits and ED psychopathology, we examined independent mediating effects of alexithymia and anxious/depressive symptoms, as well as sequential mediation effects where alexithymia affects ED psychopathology via its impact on anxious/depressive symptoms. Participants were 198 men and 265 women with formally diagnosed and suspected ED, who completed an online survey of standardised scales.

Results
In men, higher autistic traits were associated with ED psychopathology sequentially via greater alexithymia and through that, greater depressive/anxious symptoms. In women, alexithymia mediated the relationship between autistic traits and ED psychopathology both directly and sequentially through its impact on anxious/depressive symptoms. Interestingly, depressive/anxious symptoms also mediated that relationship independently from alexithymia.

Conclusions
While cross-sectional, these findings suggest that the relationship between autistic traits and ED symptomatology is mediated by other variables. In support of its proposed role in the aetiology of ED, alexithymia was directly associated with ED symptoms in women. It also affected ED symptoms indirectly, in all participants, via its effect on depressive/anxious symptoms. Interventions focusing on alexithymia may facilitate recovery not only via their effect on ED, but via their effect on other forms of state psychopathology which contribute to the maintenance and development of ED. Sex differences, however, reflect that alternative therapeutic targets for men and women may be beneficial.