bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of mutation of MYOC (c.1099G>A), a pedigree pathogenic gene of juvenile open angle glaucoma (JOAG): A case report
Authors: Zheng Juan , Zhao Dongdong , Li Zhen , Feng Changjun , Song Zhaona , Li Rongrong , Wang Bo , Liang Yaxin , Tian Xiufen , Qianqian Zhang , Gao Jianlu 
Published: November 2024

Rationale:
The MYOC gene is associated with juvenile open-angle glaucoma (JOAG). This study aims to provide genetic counseling for a Chinese JOAG family by detecting MYOC mutations to identify high-risk individuals for early JOAG intervention. It also supplements the clinical characteristics of glaucoma patients with MYOC gene mutations.

Patient concerns:
A 43-year-old presented sought medical attention in a local hospital due to a 6-month decline in binocular vision. He was diagnosed as JOAG and underwent glaucoma surgery. The patient also had 11 family members with a history of JOAG.

Diagnoses:
After sequencing the polymerase chain reaction products of the patient, MYOC c.1099 G > A (p.G367R) mutation was observed. That is consistent with a diagnosis of JOAG.

Intervention:
Polymerase chain reaction analyses of 9 patients and 42 healthy family members were performed to explore potential mutations associated with familial JOAG.

Outcomes:
JOAG assisted in diagnosing the III-5 proband. Genetic detection indicated that III-5 was exposed to a novel heterozygous missense mutation of MYOC (c.1099 G > A [p.G367R]). The co-segregation of this gene with the trait observed in the pedigree was verified. All 10 participants exhibiting this mutation had JOAG phenotypes, whereas other participants did not show this mutation. In terms of MYOC mutation c.1099 G > A (p.G367R), this mutation occurred when the 1099th nucleotide in the encoding zone of MYOC changed from G to A. Moreover, the 367th amino acid coded by this base got mutated from glycine to arginine. DNAMAN sequence homology results showed that the G residues of MYOC: 367 were significantly conserved among different species. In addition, 3D protein conformation predicted that these mutations could decrease protein stability.

Lessons:
MYOC c.1099 G > A was identified as a pathogenic gene of JOAG in this pedigree. The addition of the MYOC mutant spectrum to JOAG in the Chinese population facilitates a complete understanding of the molecular pathogenesis and clinical diagnosis of MYOC.
Single-cell and bulk RNA sequencing-based screening and identification of extracellular trap network-related genes in neutrophils in acute myocardial infarction
Authors: Li Wei , Yang Jun 
Published: November 2024

Background:
The neutrophil-mediated generation of neutrophil extracellular traps (NETs) results in an augmented inflammatory response and cellular tissue injury during acute myocardial infarction (AMI). Through the analysis of public database information, we discovered and confirmed putative critical genes involved in NETs-mediated AMI.

Methods:
The AMI dataset GSE66360 and the single-cell dataset GSE163465 were downloaded from the Gene Expression Omnibus database. Key genes were screened by bioinformatics. Quantitative real-time PCR (qRT-PCR) was used to verify the key genes, and then a Mendelian randomization (MR) study was conducted on the basis of the genome-wide association study to determine the causal relationship between key genes and AMI. Dimensionality reduction clustering, pseudo-time series, and cell communication were performed on the single-cell dataset to analyze the key genes screened by bulk RNA sequencing and the dynamic evolution of NETs in the AMI process. Immunohistochemistry and Western blot were used to verify the key genes

Results:
Six key genes, IL1β, S100A12, TLR2, CXCL1, CXCL2, and CCL4, were screened out through bioinformatics. qRT-PCR results showed that compared with the control group, the expression of 5 key genes was upregulated in the AMI group. In the MR study, CXCL1 and CCL4 were observed to have a causal relationship with AMI. Single-cell analysis showed that NETs-related genes CCL4, CXCL2, and IL1β were highly expressed. Combining single cells, qRT-PCR and MR, gene CCL4 was selected as the focus of the study. H9c2 cardiomyocytes simulated myocardial infarction under hypoxia, and the results showed that the expression of gene CCL4 was increased. The immunohistochemical results of gene CCL4 showed that the expression was upregulated in the AMI group.

Conclusions:
We found 6 key genes related to NETs-mediated cell damage during AMI. The results of MR showed that CXCL1 and CCL4 were causally related to AMI. Combining single cells, qRT-PCR and MR, gene CCL4 may play an important role in the AMI process. Our results may provide some insights into neutrophil-mediated cell damage during AMI.
Global trends and current research in post-traumatic osteoarthritis: A bibliometric and visualization analysis from 2010 to 2024
Authors: Gao Songnian , Zhang Yanwu , Ge Yongliang , Lu Hui , Li Min 
Published: November 2024

Background:
To investigate global trends and current research on post-traumatic osteoarthritis (PTOA) from 2010 to 2024 using bibliometric and visualization techniques.

Methods:
A bibliometric analysis was conducted using data from the Web of Science Core Collection. The study examined publication trends, author contributions, institutional collaborations, keyword co-occurrence, and citation patterns, employing CiteSpace software to analyze key metrics such as publication frequency, centrality, and clustering.

Results:
A total of 3100 articles were published between 2010 and 2024, with a steady increase over the years, peaking at 320 articles in 2023. Most publications were from the USA (1141 articles), China (502), and Germany (268), with key fields being Orthopedics, Surgery, and Rheumatology. Early research focused on different types of osteoarthritis, while recent studies highlight therapeutic advances such as cartilage repair and oxidative stress. Co-citation analysis identified influential authors like Lohmander LS, and key research clusters include total hip arthroplasty and regenerative medicine.

Conclusion:
Over the past decade, PTOA research has expanded substantially, driven by contributions from Orthopedics and Surgery, and supported by growing international collaboration, particularly between the United States, China, and European countries. Future research directions should prioritize elucidating the molecular mechanisms underlying PTOA, advancing diagnostic methodologies, and developing innovative therapeutic approaches to improve patient outcomes. The interdisciplinary nature and international cooperation observed are essential to addressing the complex challenges posed by PTOA.
Oral vancomycin induced flushing syndrome in a multiple myeloma patient: A case report and review of the literature
Authors: Zeng Min , Wang HeMei , Qiu Huiying , Gao JunWei 
Published: November 2024

Background:
Patients with hematological malignancies are at high-risk of Clostridium difficile infection (CDI). Oral vancomycin is a first-line treatment for CDI. Vancomycin has been widely reported to induce flushing syndrome (also known as Red man syndrome), a well-known hypersensitivity reaction mostly occurs after intravenous administration. However, a few cases of flushing syndrome due to oral vancomycin have been reported.

Methods:
We reported a case of the 68-year-old male with Multiple Myeloma contracted suspected CDI during chemotherapy, oral vancomycin (125 mg po q6h) was initiated for CDI. Approximately 24 hours after receiving oral vancomycin, the patient developed vancomycin flushing syndrome with facial flushing and an erythematous rash on the abdomen and back, despite normal vancomycin duration and renal function (no obvious risk factors).

Results:
The patient was diagnosed with Oral vancomycin induced flushing syndrome. The symptoms resolved after withdrawal of vancomycin and 4 days of treatment with loratadine.

Conclusion:
Oral vancomycin-induced flushing syndrome is a rare complication that can occur in patients with CDI despite the absence of obvious risk factors. The underlying mechanism of oral vacomycin-induced flushing syndrome may be direct activation of mast cells following mast cell degranulation and histamine release via the MRGPRX2 receptor. However, this is just speculation and there are insufficient data, particularly in vivo data, to draw any conclusions. For patients with risk factors such as gastrointestinal pathology and renal insufficiency, monitoring of vancomycin serum concentration, mast cell degranulation, histamine release, and MRGPRX2 levels is recommended to avoid vancomycin flushing Syndrome, and vancomycin can still be used under supervision.
When acute myocardial infarction meets renal abscess: Case report and literature review
Authors: Zhu Xiyan , Shu Hongyun , Han Sisi , Li Jianhong , Su Haicui , Li Qiaowen 
Published: November 2024

Rationale:
Acute myocardial infarction (AMI) is the leading global cause of death from cardiovascular disease, and the mortality rate increases in the presence of comorbidities such as renal abscess. The treatment of AMI combined with renal abscess is challenging, especially in combination with urinary tract obstruction, as percutaneous coronary intervention (PCI) can lead to progression of the renal abscess and deterioration of renal function. Currently, there is no consensus on the treatment of renal abscess in AMI.

Patient concerns:
We reported a case of a 74-year-old male patient with acute non-ST-segment elevation myocardial infarction combined with urinary tract obstruction. During his hospitalization, the hydronephrosis progressed to a renal abscess, which we punctured and drained. He ultimately underwent twice PCI and surgical relief of the ureteral obstruction shortly thereafter.

Diagnoses:
He was diagnosed with acute non-ST elevation myocardial infarction on admission, unfortunately, his hydronephrosis progressed into a renal abscess after the first PCI, which made further treatment difficult.

Interventions:
We performed 2 coronary angiography examinations and implanted a stent in the stenotic coronary artery during the second procedure, which was preceded by an aggressive regimen of antibiotics and puncture and drainage of the renal abscess, which set the stage for the second PCI.

Outcomes:
We successfully performed coronary revascularisation to treat his coronary artery disease. One month later, his renal abscess drain was removed and the ureteral obstruction was finally resolved after undergoing percutaneous nephrolithotripsy for ureteral stone extraction.

Lessons:
The occurrence of renal abscesses is rare and may be unavoidable in those patients with preexisting structural lesions in the urinary tract where coronary angiography will increase the incidence of renal abscesses. Aggressive anti-infective therapy and drainage of pus by puncture will help the renal abscess to heal, and repeat coronary angiography has been shown to be safe in the meantime.
Warfarin-induced gastrointestinal bleeding with acute liver failure: A case report
Authors: Chen Jiahao , Li Le , Wang Shiyu 
Published: November 2024

Rationale:
Warfarin is the most commonly used drug in patients with mechanical valve replacement. Acute liver damage after warfarin is rare but potentially harmful. We present a case of warfarin-induced gastrointestinal bleeding with liver injury, pharmacy monitoring, and its therapy.

Patient concerns:
A 64-year-old woman with warfarin 4.5 mg medical history 10 years after mechanical mitral valve replacement. Who presented with gastrointestinal bleeding and extensive ecchymosis, due to rising international normalized ratio (INR), and then progressed to acute liver injury.

Diagnoses:
Warfarin poisoning.

Interventions:
Discontinuing warfarin, and artificial liver support system with anti-inflammatory liver therapy, which used reduced glutathione, polyene phosphatidylcholine, and ademetionine 1,4-butanedisulfonate for injection, ursodeoxycholic acid for orally.

Outcomes:
The liver enzymes and hyperbilirubinemia were improved, she was placed on warfarin again, and the INR increased to 2.03. There was no significant increase in liver enzymes and hyperbilirubinemia, she was discharged on day 24.

Lessons:
Close monitoring and immediate dose adjustment of warfarin and to avoid drug–drug interaction. Timely stopped warfarin, adjusted INR and anti-inflammatory liver therapy may reduce the occurrence of warfarin-induced liver failure.
Effects of shared decision-making on the prognosis of peritoneal dialysis patients
Authors: Park Byung Hwa , Shin Ho Sik , Kim Jinseog , Lee Jeonghwan , Park Ji Hyeon , Ko Gang Jee , Hwang Won Min , Kim Do Hyoung , Lee Young Ki 
Published: November 2024

Background:
Chronic kidney disease (CKD) patients face critical decisions in choosing kidney replacement therapy such as hemodialysis (HD) or peritoneal dialysis (PD), which significantly affect their quality of life and health outcomes. Recent studies highlight the importance of shared decision-making (SDM) in helping patients understand their treatment options and make informed choices. SDM not only improves patient satisfaction and autonomy but also emphasizes the need for comprehensive pre-dialysis education to support optimal treatment selection.

Methods:
Among patients with chronic kidney failure from 8 hospitals in Korea who started dialysis, 256 who participated in a pilot project for home management of PD were included in the present study. A mixed-methods study was conducted using questionnaires and semi-structured interviews. Our study focused on the effects of SDM on patient death, survival rate, HD conversion, emergency room visits, hospitalization days, and outpatient visits.

Results:
A significant difference was observed in hospitalization days (P = .0044) between the SDM and non-SDM groups. However, no significant differences were observed in survival rate, rate of conversion to HD, survival rate after conversion to HD, emergency room visit rate, number of hospitalizations per patient, outpatient visit rate, medical cost, hospitalization cost, outpatient cost, and phosphate-binding agent prescription rate.

Conclusions:
This study emphasizes the benefits of SDM in reducing hospitalization days for PD patients, suggesting its potential role as a guide in future decisions regarding PD. PD provides a particularly beneficial home-based treatment alternative for patients facing challenges with hospital visits, supported by advanced technologies. Overseas, various countries are implementing policies and incentives to promote home dialysis, demonstrating the potential for SDM to enhance patient satisfaction and outcomes in dialysis care globally.
Gong’s acupuncture treatment for mid pregnancy insomnia and anxiety: A case report
Authors: Wu Kuilin , Yu Ailan , Liu Zhong , Gao Xiujuan , Ding Yonghong , Shi Yufang , Zhang Zongwang 
Published: November 2024

Rationale:
Gong’s brain acupuncture (GBA) is a acupuncture technique that restores the balance of the central nervous system by stimulating specific acupoints on the skull to transmit stimulation to the nerves. Insomnia during pregnancy is an increasingly concerning issue, and GBA provides new solutions.

Patient’s concerns:
The patient, a 26-year old woman at 26 + 1 weeks of pregnancy, presented with unexplained insomnia for 3 weeks. Her symptoms included difficulty initiating sleep, light sleep, and intermittent wakefulness throughout the night.

Diagnoses:
The patient was diagnosed with primary insomnia, scoring 16 on the Pittsburgh sleep quality index, which indicates poor sleep quality. Her self-rating anxiety scale (SAS) score was 49 points, suggesting that she had not yet reached a state of mild anxiety.

Interventions:
The patient received 15 sessions of GBA treatment.

Outcomes:
One month after treatment completion, the patient’s Pittsburgh sleep quality index score improved to 3 points, indicating good sleep quality. Her self-rating anxiety scale score decreased to 39 points.

Lessons:
This case report demonstrated the successful treatment of mid pregnancy insomnia with GBA, providing preliminary evidence for further research on the therapeutic potential of GBA. However, further research is still needed to enhance persuasiveness.
Unraveling lipid metabolism for acute myeloid leukemia therapy
Authors: O’Brien Cristiana , Jones Courtney L. 
Published: November 2024

Purpose of review
The aim of this review is to highlight the importance of lipids’ intricate and interwoven role in mediating diverse acute myeloid leukemia (AML) processes, as well as potentially novel lipid targeting strategies. This review will focus on new studies of lipid metabolism in human leukemia, particularly highlighting work in leukemic stem cells (LSCs), where lipids were assessed directly as a metabolite.

Recent findings
Lipid metabolism is essential to support LSC function and AML survival through diverse mechanisms including supporting energy production, membrane composition, signaling pathways, and ferroptosis. Recent work has highlighted the role of lipid rewiring in metabolic plasticity which can underlie therapy response, the impact of cellular and genetic heterogeneity in AML on lipid metabolism, and the discovery of noncanonical roles of lipid related proteins in AML.

Summary
Recent findings around lipid metabolism clearly demonstrates their importance to our understanding and therapeutic targeting of AML. We have only begun to unravel the regulation and utilization of lipids in this disease. Further, understanding the layered dynamics of lipid homeostasis could provide novel opportunities to target lipid metabolism in AML and LSCs with the potential of improving outcomes for patients with AML.
Family Sense of Coherence, Dyadic Coping, and Quality of Life in Young and Middle-Aged Patients With Advanced Lung Cancer and Spousal Caregivers
Authors: Qu Yitong , Zhang Yinan , Jin Shimei , Shen Yuehao , Li Mei , Yu Lijuan , Song Yuelin , Li Lehan , Zhuang Shumei 
Published: November 2024

Background
Cancer is now recognized as a dyadic stress that seriously impacts the mental and physical well-being of both patients and their spousal caregivers (SCs). Analyzing from a dyadic perspective whether and how dyadic coping and family sense of coherence (FSOC) affect the quality of life (QOL) of couples is crucial.

Objective
To investigate the dyadic association between FSOC, dyadic coping, and QOL in young and middle-aged couples facing advanced lung cancer and to evaluate the mediating role of dyadic coping from a dyadic perspective.

Methods
From October 2023 to April 2024, 202 dyads were recruited from 2 tertiary care hospitals in Tianjin, China. The participants’ measurement indicators were evaluated using corresponding questionnaires. The procedure for dyadic analysis was based on the Actor-Partner Interdependence Mediation Model.

Results
The actor effect of FSOC on the QOL was mediated by the dyadic coping of patients (β = .100; 95% confidence interval [CI], 0.053-0.155; P = .001) and SCs (β = .124; 95% CI, 0.059-0.193; P = .002). The partner effect suggested that patients’ QOL may be indirectly impacted by SCs’ FSOC through patients’ dyadic coping (β = .078; 95% CI, 0.038-0.127; P = .004).

Conclusions
The QOL, dyadic coping, and FSOC of young and middle-aged couples facing advanced lung cancer were dyadically interdependent. To enhance couples’ QOL, strategies for intervention must be developed.

Implications for Practice
This study offered a novel viewpoint on the relationship between QOL, dyadic coping, and FSOC and provided a theoretical foundation for the creation of dyadic intervention strategies meant to enhance cancer couples’ QOL.
Correlates of Impaired Timing Abilities in Schizophrenia
Authors: Croce Enrico , Simonelli Gabriele , Ferrara Maria , Escelsior Andrea , Folesani Federica , Bovio Anna , Muscettola Angela , Toffanin Tommaso , De Bellis Giovanni Antonio , Nanni Maria Giulia , Caruso Rosangela , Belvederi Murri Martino , Grassi Luigi 
Published: November 2024

Abstract
This review aimed at summarizing the literature evidence on clinical, cognitive, and neurobiological correlates of impaired timing abilities in schizophrenia (SCZ). Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic literature search was conducted in PubMed, EMBASE, and PsycInfo by looking at correlates between timing abilities and either symptom severity, cognition, and neurobiological data (imaging and electroencephalography) in individuals with SCZ, without restrictions on study design. A total of 45 articles were selected: associations were identified between impaired timing performance and positive, negative, and disorganization symptoms, as well as with executive functioning, working memory, and attention. Timing impairments were associated with altered motor coordination neural circuits. Despite high methodological and clinical heterogeneity, timing dysfunction may be associated with the symptom severity and cognitive impairments in SCZ. Further studies are needed to clarify the pathophysiology of this association and offer new therapeutic targets.
A Survey of Forensic Pathologists Regarding Medicolegal Investigation of Perinatal and Stillborn Deaths
Authors: Krywanczyk Alison , Jackson Nicole R. , Maloney Katherine , Gill James R. 
Published: November 2024

Abstract
Stillborn and perinatal deaths may be referred to medical examiners and coroners for investigation and determination of cause and/or manner of death. One of the key questions is determining a live birth from a stillbirth. We surveyed 147 forensic pathologists to assess their investigative practices for these deaths and for their ability to diagnose a live birth and a stillbirth. The results of this survey demonstrate the wide variability of investigative practices and policies between offices within the United States. Clinical history, maceration of the fetus, and food in the stomach were the only 3 factors considered by a majority of forensic pathologists to reliably distinguish liveborn from stillborn infants. High-quality research and expert guidance from national organizations are needed to ensure standardized adoption of evidence-based practices. The investigation and certification of these deaths is complex, yet the determination of stillborn or liveborn and cause and manner of death can have significant legal implications for the mother.