bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploring the etiology of dilated cardiomyopathy using Mendelian randomization
Authors: Xue SiYang , Jiang HongJu 
Published: August 2024

BackgroundObservational clinical studies suggest an association between dilated cardiomyopathy (DCM) and various factors including titin, cardiac troponin I (CTnI), desmocollin-2, the perinatal period, alcoholism, Behçet's disease, systemic lupus erythematosus, hyperthyroidism and thyrotoxicosis, hypothyroidism, carnitine metabolic disorder, and renal insufficiency. The causal nature of these associations remains uncertain. This study aims to explore these correlations using the Mendelian randomization (MR) approach.ObjectiveTo investigate the etiology of DCM through Mendelian randomization analysis.MethodsData mining was conducted in genome-wide association study databases, focusing on variant target proteins (titin, CTnI, desmocollin-2), the perinatal period, alcoholism, Behçet's disease, systemic lupus erythematosus, hyperthyroidism and thyrotoxicosis, hypothyroidism, carnitine metabolic disorder, and renal insufficiency, with DCM as the outcome. The analysis employed various regression models, namely, the inverse-variance weighted (IVW), MR-Egger, simple mode, weighted median, and weighted mode methods.ResultsThe IVW results showed a correlation between titin protein and DCM, identifying titin as a protective factor [OR = 0.856, 95% CI (0.744–0.985), P = 0.030]. CTnI protein correlated with DCM, marking it as a risk factor [OR = 1.204, 95% CI (1.010–1.436), P = 0.040]. Desmocollin-2 also correlated with DCM and was recognized as a risk factor [OR = 1.309, 95% CI (1.085–1.579), P = 0.005]. However, no causal relationship was found between the perinatal period, alcoholism, Behçet's disease, systemic lupus erythematosus, hyperthyroidism and thyrotoxicosis, hypothyroidism, carnitine metabolic disorder, renal insufficiency, and DCM (P &gt; 0.05). The MR-Egger intercept test indicated no pleiotropy (P &gt; 0.05), affirming the effectiveness of Mendelian randomization in causal inference.ConclusionTitin, CTnI, and desmocollin-2 proteins were identified as independent risk factors for DCM. Contrasting with previous observational studies, no causal relationship was observed between DCM and the perinatal period, alcoholism, Behçet's disease, systemic lupus erythematosus, hyperthyroidism and thyrotoxicosis, hypothyroidism, carnitine metabolic disorder, or renal insufficiency.
Smartphone addiction habit is positively associated with coronary artery disease and its severity in Chinese adults: a case-control study
Authors: Zhu Jun , Wang Sibo , Wu Yujie , Gu Lingfeng , Ma Yao , Wang Yaxin , Wang Liansheng 
Published: August 2024

BackgroundCoronary artery disease (CAD) has a high incidence and poor prognosis worldwide. It has been confirmed that smartphone addiction (SA) habit can increase the incidence of hypertension and obesity in adolescents. However, the association of SA with CAD and its severity in Chinese adults remains largely unknown.MethodsA total of 700 Chinese adults (aged 18–70 years) including 350 CAD patients and 350 control subjects were enrolled. The Smartphone Addiction Scale Short Version (SAS-SV) was used to measure SA habit, and the Pittsburgh sleep quality index (PSQI) was used to assess sleep quality. Multiple logistic regression was employed to analyze the relationship between SA habit and CAD.ResultsAfter adjusting for age, smoking, hypertension, type 2 diabetes mellitus, and other risk factors, there was a significant association between SA habit and CAD in adults (p &lt; 0.001). Subgroup analysis showed that there were statistical differences in the correlation between SA habit and CAD in the hypertension, ≤55 years age old, and female subgroups. Moreover, we performed a subgroup analysis based on the number of coronary artery lesions. The result showed that the rate of SA habit in the three-vessel disease group was the highest (p &lt; 0.001). We applied Gensini score to evaluate the severity of coronary artery lesions (median Gensini score, 34) and divided all CAD patients into high Gensini score group (&gt;34) and low Gensini score group (≤34), respectively. Compared with low Gensini score group, patients in high Gensini score group were more likely to have SA habit (p = 0.049).ConclusionsThere is a positive association of SA habit with CAD and its severity in Chinese adults.
Case Report: Lethal mitochondrial cardiomyopathy linked to a compound heterozygous variant of PARS2
Authors: Jing Siyuan , Yao Qiuyan , Wu Mei , Li Yifei 
Published: August 2024

IntroductionVariants in the PARS2 gene have been previously associated with developmental and epileptic encephalopathy. PARS2 deficiency was characterized as a neurodevelopmental and neurodegenerative disorder with early-onset seizures and global developmental delay. Herein, we reported the first case with severe heart failure due to lethal mitochondrial cardiomyopathy with PARS2 compound heterozygous variants.Case presentationThis patient demonstrated fatigue, chest tightness, and shortness of breath. An acute major illness had been identified at the initial evaluation, which was characterized by severe diaphoresis, dizziness, and fatigue. Blood–urine tandem mass spectrometry found multiple disorders in acid metabolism, characterized as increased homovanillic acid (130.39 mmol/L) and 2-hydroxyisovaleric acid (1.70 mmol/L), which are associated with myocardial injuries. Therefore, an inherited metabolic disorder was suspected and whole-exome sequencing was performed, revealing a novel compound heterozygous variant of c.953C&gt;T and c.283G&gt;A on PARS2. Echocardiography confirmed the findings from the MRI, which presented an increased left ventricular diameter at the end of the diastolic stage. The molecular structure of SYPM was established as AF-Q7L3T8-F1, and the identified mutant sites were located in the proline-tRNA ligase domain. However, the patient died due to severe heart failure.ConclusionThis is the first case to reveal a novel compound heterozygous variant of PARS2-induced lethal cardiomyopathy with unreversed heart failure. Thus, this report enhances our understanding of mitochondrial tRNA function in maintaining heart function.
Acceptability of digital health technologies in early Parkinson's disease: lessons from WATCH-PD
Authors: Kangarloo T. , Latzman R. D. , Adams J. L. , Dorsey R. , Kostrzebski M. , Severson J. , Anderson D. , Horak F. , Stephenson D. , Cosman J. 
Published: August 2024

IntroductionDigital health technologies (DHTs) have the potential to alleviate challenges experienced in clinical trials through more objective, naturalistic, and frequent assessments of functioning. However, implementation of DHTs come with their own challenges, including acceptability and ease of use for study participants. In addition to acceptability, it is also important to understand device proficiency in the general population and within patient populations who may be asked to use DHTs for extended periods of time. We thus aimed to provide an overview of participant feedback on acceptability of DHTs, including body-worn sensors used in the clinic and a mobile application used at-home, used throughout the duration of the Wearable Assessments in the Clinic and at Home in Parkinson's Disease (WATCH-PD) study, an observational, longitudinal study looking at disease progression in early Parkinson's Disease (PD).Methods82 participants with PD and 50 control participants were enrolled at 17 sites throughout the United States and followed for 12 months. We assessed participants' general device proficiency at baseline, using the Mobile Device Proficiency Questionnaire (MDPQ). The mean MDPQ score at Baseline did not significantly differ between PD patients and healthy controls (20.6 [2.91] vs 21.5 [2.94], p = .10).ResultsQuestionnaire results demonstrated that participants had generally positive views on the comfort and use of the digital technologies throughout the duration of the study, regardless of group.DiscussionThis is the first study to evaluate patient feedback and impressions of using technology in a longitudinal observational study in early Parkinson's Disease. Results demonstrate device proficiency and acceptability of various DHTs in people with Parkinson's does not differ from that of neurologically healthy older adults, and, overall, participants had a favorable view of the DHTs deployed in the WATCH-PD study.
Association between metabolic disorders and clinicopathologic features in endometrial cancer
Authors: Wang Yuanpei , Liu Qianwen , Sun Yi , Wu Weijia , Cheng Xiaoran , Chen Xuerou , Ren Fang 
Published: August 2024

BackgroundIn recent years, the incidence of Endometrial cancer (EC) has been on the rise due to high-fat, high-calorie diets and low-exercise lifestyles. However, the relationships between metabolic disorders and the progression of EC remain uncertain. The purpose of our study was to explore the potential association between obesity, hypertension, hyperglycemia and clinicopathologic characteristics in EC patients.MethodsIn categorical variables, Chi-square tests were used to calculate P values. Univariate logistic regression and multivariate logistic regression were used to identify the risk factors of myometrial invasion&gt;1/2 and lymph node metastasis. Overall survival (OS) was estimated using the Kaplan-Meier method.ResultsThe study included 406 individuals with EC, 62.6% had type I and 37.4% had type II. Hypertension was seen in 132 (32.5%), hyperglycemia in 75 (18.5%), and overweight or obesity in 217 (53.4%). Hypertension, hyperglycemia, and obesity are strongly associated with the clinicopathologic features of EC. Multivariate logistic regression revealed that hyperglycemia (OR=2.439,95% CI: 1.025-5.804, P = 0.044) was a risk factor for myometrial invasion depth &gt;1/2 in patients with type I EC, and hypertension (OR=32.124,95% CI: 3.287-313.992, P = 0.003) was a risk factor for lymph node metastasis in patients with type I EC. Survival analysis found that hyperglycemia (P &lt; 0.001) and hypertension (P = 0.002) were associated with OS in type I EC. Neither hyperglycemia, hypertension, nor obesity were associated with the prognosis in type II EC.ConclusionHyperglycemia was a risk factor for myometrial invasion depth &gt;1/2 in patients with type I EC and hypertension was a risk factor for lymph node metastasis in patients with type I EC. Hypertension and hyperglycemia were associated with poor prognosis in patients with type I EC.
A dynamic surface water extent service for Africa developed through continental-scale collaboration
Authors: Halabisky Meghan , Yuan Fang , Adimou Ghislain , Birchall Eloise , Boamah Edward , Burton Chad , Chong Ee-Faye , Hall Lisa , Jorand Cedric , Leith Alex , Lewis Adam , Mamane Bako , Mar Fatou , Moghaddam Negin , Ongo David , Rebelo Lisa-Maria 
Published: August 2024

Spatially explicit, near real time information on surface water dynamics is critical for understanding changes in water resources, and for long-term water security planning. The distribution of surface water across the African continent since 1984 and updated as every new Landsat scene becomes available is presented here, and validated for the continent for the first time. We applied the Water Observations from Space (WOfS) algorithm, developed and well-tested in Australia, to every Landsat scene acquired over Africa since the mid 1980s to provide spatial information on surface water dynamics over the past 30+ years. We assessed the accuracy of WOfS using aerial and satellite imagery. Four regional geospatial organisations, coordinated through the Digital Earth Africa Product Development Task Team, conducted the validation campaign and provided both the regional expertise and experience required for a continental-scale validation effort. We assessed whether the point was wet, dry, or cloud covered, for each of the 12 months in 2018, resulting in 34,800 labelled observations. As waterbodies larger than 100 km2 are easy to identify with Landsat resolution data and can thus boost accuracy, these were masked out. The resulting overall accuracy of the water classification was 82%. WOfS in Africa is expected to be used by ministries and departments of agriculture and water across the continent, by international organisations, academia, and the private sector. A large-scale collaborative effort, which included regional and technical skills spanning two continents was required to create a service that is regionally accurate and is both hosted on, and implemented operationally from, the African continent.
Stakeholder perspectives on factors that influence global prioritization for MNH in humanitarian settings
Authors: Adler Alicia , Kozuki Naoko , Mothupi Mamothena 
Published: August 2024

BackgroundMaternal and newborn mortality rates are disproportionately high in crisis and conflict-affected countries. This study aims to understand factors influencing how MNH in humanitarian and fragile settings (HFS) is prioritized on the global health agenda during the Sustainable Development Goal (SDG) era. This includes examining the policies and processes driving agenda setting and decision-making, as well as the perceptions of global actors. It further reflects on the role of global milestones, reports, convenings, and high-level champions, based on the premise that global prioritization leads to increased attention and resource allocation, ultimately contributing to improved outcomes for mothers and newborns in crisis-affected areas.MethodsA qualitative study conducted from April 2022 to June 2023, employing a desk review and 23 semi-structured key informant interviews with global actors from donor agencies, implementing organizations, research institutes, United Nations agencies, professional associations, and coalitions, predominantly based in the Global North. Data were analyzed using inductive thematic analysis and the research was guided by the Walt and Gibson Health Policy Triangle framework.ResultsParticipants believe that global agenda-setting and investment decisions for MNH are primarily driven by UN agencies, donors, and implementing organizations at the global level. Although the Millennium Development Goal era successfully prioritized MNH, this focus has diminished during the SDGs, especially for HFS. Identified barriers include the complexity of reducing mortality rates in these contexts, limited political will, MNH investment fatigue, and a preference for quick wins. Fragmentation between humanitarian and development sectors and unclear mandates in protracted crises also hinder progress. Without enhanced global advocacy, accountability, and targeted investments in HFS, respondents deem global MNH targets unattainable.ConclusionsWhile waning donor interest and the siloing of HFS in global MNH decision-making pose challenges, targeted actions to address these barriers may include designating quotas for humanitarian actors in global MNH convenings, developing shared messages that convey common interests, and adopting an equity lens. Prioritizing MNH in HFS on the global agenda demands sustained commitment to ensure these settings are not an afterthought through dedicated advocacy and accountability, high-level political engagements, global milestones, and by leveraging opportunities to capture mainstream interest. Failing to shift global priorities will result in continued stagnation and worsening MNH outcomes across HFS.
GPCRs overexpression and impaired fMLP-induced functions in neutrophils from chronic kidney disease patients
Authors: Scharf Pablo , Sandri Silvana , Rizzetto Felipe , Xavier Luana Filippi , Grosso Daniela , Correia-Silva Rebeca D. , Farsky Pedro S. , Gil Cristiane D. , Farsky Sandra Helena Poliselli 
Published: August 2024

IntroductionG-protein coupled receptors (GPCRs) expressed on neutrophils regulate their mobilization from the bone marrow into the blood, their half-live in the circulation, and their pro- and anti-inflammatory activities during inflammation. Chronic kidney disease (CKD) is associated with systemic inflammatory responses, and neutrophilia is a hallmark of CKD onset and progression. Nonetheless, the role of neutrophils in CKD is currently unclear.MethodsBlood and renal tissue were collected from non-dialysis CKD (grade 3 - 5) patients to evaluate GPCR neutrophil expressions and functions in CKD development.ResultsCKD patients presented a higher blood neutrophil-to-lymphocyte ratio (NLR), which was inversely correlated with the glomerular filtration rate (eGFR). A higher frequency of neutrophils expressing the senescent GPCR receptor (CXCR4) and activation markers (CD18+CD11b+CD62L+) was detected in CKD patients. Moreover, CKD neutrophils expressed higher amounts of GPCR formyl peptide receptors (FPR) 1 and 2, known as neutrophil pro- and anti-inflammatory receptors, respectively. Cytoskeletal organization, migration, and production of reactive oxygen species (ROS) by CKD neutrophils were impaired in response to the FPR1 agonist (fMLP), despite the higher expression of FPR1. In addition, CKD neutrophils presented enhanced intracellular, but reduced membrane expression of the protein Annexin A1 (AnxA1), and an impaired ability to secrete it into the extracellular compartment. Secreted and phosphorylated AnxA1 is a recognized ligand of FPR2, pivotal in anti-inflammatory and efferocytosis effects. CKD renal tissue presented a low number of neutrophils, which were AnxA1+.ConclusionTogether, these data highlight that CKD neutrophils overexpress GPCRs, which may contribute to an unbalanced aging process in the circulation, migration into inflamed tissues, and efferocytosis.
Safety and practicality of an excisional lymph node study driving HIV cure research in South Africa
Authors: Khaba Trevor , Papadopoulos Andrea Olga , Nkosi Thandeka , Nxele Sifundo , Ngubane Thandekile , Jajbhay Ismail , Pansegrouw Johan , Ndhlovu Zaza M. 
Published: August 2024

IntroductionStudying diseased human tissues offers better insights into the intricate interactions between pathogens and the human host. In conditions such as HIV and cancers, where diseases primarily manifest in tissues, peripheral blood studies are limited in providing a thorough understanding of disease processes and localized immune responses.MethodsWe describe a study designed to obtain excisional lymph nodes from volunteers for HIV reservoir studies. Since study commencement in 2015, 181 lymph node excisions have been performed, resulting in collection of 138 lymph node tissues. Lymph nodes were surgically excised from study volunteers using a minimally invasive procedure, performed in a minor theater under local anesthesia.ResultsThe surgery takes less than 30 minutes to complete, minimizing risk and stress on the volunteer. The small incision made during the procedure typically heals within a week. The associated discomfort is generally manageable, and participants are often able to resume their regular activities within a day. Only 5.5% of the study participants experienced minor adverse events, such as swelling and prolonged wound healing, recovering within 2 weeks with no serious adverse events reported.DiscussionOur study demonstrates that when done with outmost care, obtaining excised lymph nodes for research is relatively safe and practical.
Subcutaneous foslevodopa in akinetic crisis. A case report from the neurological intensive care unit
Authors: Loeffler Moritz A. , Mengel Annerose , Single Constanze , Weiss Daniel , Feil Katharina 
Published: August 2024

IntroductionAkinetic crisis is a severe deterioration of motor performance occurring in syndromes with pre- or postsynaptic dopaminergic deficit, necessitating effective dopamine replacement therapy. The subcutaneously applicable levodopa derivative foslevodopa represents a new therapeutic option for patients with advanced Parkinson’s disease as a continuous therapy. However, its potential role as a parenteral treatment option for akinetic crisis has not been investigated, yet.The caseA 78 year-old patient who had developed akinetic-rigid symptomatology in the context of normal pressure hydrocephalus was admitted to our intensive care unit after experiencing an acute exacerbation of akinesia in the context of pulmonary infection. Off-label administration of subcutaneous foslevodopa was initiated after repeated failures to insert a gastric tube for enteral application of levodopa and contraindications against amantadine and apomorphine.ResultsFollowing the administration of a subcutaneous test dose, continuous application of foslevodopa via a B. Braun syringe pump was gradually increased to 0.3 mL/h during the daytime and 0.15 mL/h at night, corresponding to a levodopa equivalent dosage of 1,020 mg/d. This was accompanied by an improvement of the MDS-UPDRS III score from 85 points to 59 points after 72 h.DiscussionTreatment of an akinetic crisis with subcutaneous foslevodopa in an intensive care unit setting has proven to be safe and effective in a patient with acute akinesia associated with dopamine-sensitive hydrocephalus. Due to the pathophysiological distinction from Parkinson’s disease, there may be differences in therapeutic response and side effects. Nevertheless, the method used here can serve as a protocol basis for the treatment of akinetic crises with foslevodopa in general and as a starting point for further research.
Identification of specific genes as molecular markers for rapid and accurate detection of oil-tea Camellia anthracnose pathogen Colletotrichum fructicola in China
Authors: Cao Lingxue , Shi Kailin , Liu Yongyi , Xie Xiaonan , Sun Xizhe , Dong Wentong , Wang Congya , Ma Lisong 
Published: August 2024

IntroductionCamellia anthracnose is caused by multiple Colletotrichum species, resulting in severe yield losses of oil-tea Camellia. Colletotrichum fructicola is one of the major anthracnose pathogens of oil-tea Camellia worldwide. However, developing unique molecular markers for the rapid and accurate detection of Colletotrichum fructicola from diverse Colletotrichum species, as well as early monitoring and effective control of the disease, remains largely unexplored.MethodsC. fructicola-specific genes were obtained using a BLAST search of the sequences of predicted genes in C. fructicola against the genome sequences of Colletotrichum fungal pathogens. In this study, Colletotrichum fructicola-specific molecular markers were developed for rapid and accurate detection of C. fructicola among Camellia anthracnose causing fungal pathogens.ResultsUsing genomic DNA-based end-point PCR and qPCR, three C. fructicola-specific genes with the ability to distinguish C. fructicola from other oil-tea Camellia anthracnose-related Colletotrichum species, including Colletotrichum camelliae, Colletotrichum gloeosporioides, and Colletotrichum siamense, and oil-tea Camellia fungal pathogens belonging to the genus Neopestalotiopsis, Pestalotiopsis, and Alternaria, were validated as molecular markers. In addition, these three molecular markers were highly sensitive to detecting C. fructicola using DNA extracted from the inoculated leaves of oil-tea Camellia.DiscussionThese findings enable us to rapidly and uniquely detect the Camellia anthracnose disease caused by Colletotrichum fructicola, which will equip farmers with an effective tool for monitoring Camellia anthracnose disease in the field and taking timely control measurements in advance.