bluuebunny/crossref_metadata_2025_split huggingface dataset:
The diagnosis of acute intermittent porphyria combined with seizures: Case report
Authors: Wang Zhen , Cheng Liniu , Liang Xianyang , Jiang Han , Shen Ruile 
Published: December 2023

Rationale:
Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting heme production due to enzyme porphobilinogen deaminase deficiency. Diagnosing acute intermittent porphyria is difficult because its symptoms interrelate with those of other common diseases. When AIP is combined with seizures, the diagnosis process is more complicated. This case report shows all tests and criteria used to arrive at the final stage of diagnosis.

Patient concerns:
The patient complained of severe abdominal pain, nausea, vomiting, and intermittent convulsions. Her medical history shows she had abdominal pain, mainly dull pain in the left upper abdomen.

Diagnoses:
Different symptomatic tests were done, and the cause of her symptoms was uncertain. A urine sun drying test was then done and confirmed the presence of porphyrin used to diagnose AIP. A genetic test was done after the patient was discharged, and AIP diagnosis was confirmed.

Interventions:
Acute intermittent porphyria treatment was administered.

Outcomes:
The patent recovered fully.

Lessons:
It is essential to consider acute intermittent porphyria diagnosis in patients having unexplained severe abdominal pain associated with neurological and psychiatric symptoms. Since AIP is a rare disease with a high mortality rate when not treated early, Clinical practices should include AIP as one of the tests done on patients showing these symptoms at an early stage. The fastest way to identify this is to conduct a urine test. The change of color from brown to reddish color is a diagnostic indicator of AIP. This strategy helps reduce misdiagnoses and delayed treatment of the right disease.
A case report of dermatomyositis mimicking myasthenia gravis
Authors: Jin Zhang-Si , Tao Xiao-Ran , Wang Zai-Xing 
Published: December 2023

Rationale:
Patients who have myasthenia gravis or dermatomyositis show clinical signs of muscular weakening. Ocular muscle involvement is uncommon, and symmetrical proximal limb weakness is the typical presentation of dermatomyositis. However, the earliest and most noticeable sign in those with myasthenia gravis is extraocular muscular paralysis. Dermatomyositis is frequently complicated by malignancy, and the common malignancies associated with dermatomyositis vary by region and ethnicity, while thymoma is relatively rare. About 10% to 15% of people with myasthenia gravis have thymoma, which is involved in the etiology of the disease.

Patient concerns:
A 68-year-old female presented with ocular muscle weakness for 10 days that manifested as bilateral blepharoptosis with the phenomenon of “light in the morning and heavy in the evening.” Imaging examination showed anterior mediastinal thymic tumor with metastasis.

Diagnoses:
After a thorough physical examination, we discovered bilateral upper limbs with grade IV muscle strength and the typical rash of dermatomyositis. In combination with elevated serum kinase levels and electromyography suggesting myogenic damage, the patient was finally diagnosed as dermatomyositis with multiple metastases of thymoma.

Interventions:
The patient received oral hydroxychloroquine sulfate, topical corticosteroids, and tacrolimus ointment, but these did not work very well. Subsequently, the patient underwent surgery combined with radiotherapy for the thymoma.

Outcomes:
Muscle weakness in the patient improved after effective treatment of tumor, and the rash mostly disappeared.

Conclusion:
Ocular muscle weakness and thymoma are more common in myasthenia gravis, but we cannot ignore the possibility of dermatomyositis. To further establish the diagnosis, a thorough physical examination and laboratory findings are required. Further tumor screening should be performed for patients with dermatomyositis. Early detection and management of possible tumors are essential to the treatment of dermatomyositis linked to malignancies.
Case report: Interstitial lung disease of XELOEX chemotherapy with cetuximab in advanced colon cancer induced
Authors: Shao Yanfei , Hu Jieru , Yao Haibo , Jiang Menglao , Song Zhouye 
Published: December 2023

Introduction:
This paper presents a case of a Chinese patient with advanced colon cancer who developed drug-induced interstitial lung disease while undergoing treatment with cetuximab combined with XELOX.

Patient concerns:
A 75-year-old man with a history of colon cancer, had metastases in the liver, peritoneum, and lungs, which were initially treated with XELOX and cetuximab (0.4 g) in 2019. However, the lung metastases progressed, and the cetuximab dosage was adjusted to 0.9 g and then readjusted to 0.4 g.

Diagnosis:
In January 2021, computed tomography revealed developed interstitial lung disease, leading to the discontinuation of chemotherapy and cetuximab.

Interventions:
Receiving methylprednisolone pulse therapy.

Outcomes:
The patient experienced respiratory failure and passed away. The Naranjo Algorithm Assessment score indicated a probable relationship between cetuximab and the adverse event.

Conclusion:
This case highlights the need for regular pulmonary imaging examinations during cetuximab therapy, as drug-induced interstitial lung disease may be associated with the dose and duration of treatment.
Sotorasib versus Docetaxel for treatment of US and Chinese patients with advanced non-small-cell lung cancer with KRAS p.G12C-mutated: A cost-effectiveness analysis to inform drug pricing
Authors: Jiang Yunlin , Zhao Mingye , Liu Ruolin , Zheng Xueping 
Published: December 2023

Background:
The cost-effectiveness of sotorasib and its reasonable price in the United States (US) and China remain unknown. Our objective was to estimate the price at which sotorasib could be economical as second-line treatment for advanced non-small-cell lung cancer patients with Kirsten rat sarcoma viral oncogene homolog p.G12C-mutation in 2 countries.

Methods:
We conducted an economic evaluation from the perspective of US and Chinese payers. To analyze US patients, we built a partitioned survival model. However, since we lacked Asian-specific overall survival data, we created a state transition model for the Chinese patients. We obtained patients’ baseline characteristics and clinical data from CodeBreaK200, while utilities and costs were gathered from public databases and published literature. We calculated costs (US dollar), life years, quality-adjusted life years (QALYs), and incremental cost-effectiveness ratios. We conducted price simulation to guide pricing strategies. Additionally, we assessed the reliability of our results through sensitivity analyses, scenario analyses, and subgroup analyses.

Results:
The incremental cost-effectiveness ratios of sotorasib compared to docetaxel were $1501,852 per quality-adjusted life-years (QALY) in the US and $469,106/QALY in China, respectively, which meant sotorasib was unlikely to be economical at the currently available price of $20,878 (240 × 120 mg) in both countries. Price simulation results revealed that sotorasib would be preferred at a price lower than $1400 at the willingness-to-pay threshold of $37,376 in China and a price lower than $2220 at the willingness-to-pay threshold of $150,000 in the US. Sensitivity, scenario, and subgroup analyses showed that these conclusions were generally robust, the model was most sensitive to the utilities of progression-free survival and post-progression survival.

Conclusions:
Sotorasib could potentially be a cost-effective therapy in the US and China following price reductions. Our evidence-based pricing strategy can assist decision-makers and clinicians in making optimal decisions. However, further analysis of budget impact and affordability is needed.
Efficacy and safety of different traditional Chinese health exercises in patients with coronary heart disease combined with chronic heart failure: A network meta-analysis
Authors: Huang Xiwei , Pang Shuwen , Zhao Yueli , Qian Jing , Zhong Jiahui , Liu Shuai 
Published: December 2023

Background:
Non-pharmacological treatments, particularly TCM health exercises, have garnered attention for their affordability, ease of access, and potential health advantages. Despite this interest, systematic and direct comparative studies assessing the effectiveness and safety of these therapies in patients with CHD-CHF remain scarce.

Methods:
This study aimed to compare the efficacy and safety of conventional treatment, conventional treatment integrated with aerobic endurance training, and various TCM health exercises in treating patients with CHD-CHF using NMA. The analysis was designed to provide a reference for developing treatment plans. To achieve this, literature databases were searched for RCTs on different TCM health exercises for CHD-CHF patients up to December 6, 2022. Major outcomes analyzed included NT-proBNP, LVEF, 6-minute walk test, MLHFQ, clinical effectiveness, and adverse event occurrence. The Cochrane risk of bias tool was employed to assess the risk of bias in the included RCT studies. Systematic review with NMA was conducted using RevMan 5.4 and Stata for cumulative ranking, and comparative adjustment funnel plot analysis.

Results:
Traditional Chinese medicine gong methods included BaDuanJin (A) and TaiChiQuan (B). The NMA and SUCRA results revealed that: A + D and A + C + D were most likely to be the best interventions to improve NT-proBNP; B + D and A + C + D were most likely to be the best interventions to improve LVEF; A + D and A + C + D were the best interventions to improve 6WMT in CHD-CHF patients; B + C + D had the best effect on shrinking LVESD;A + D and B + C + D was likely the best interventions for contracting LVEDD;B + D and A + D were consistent in their capacity to improve MLHFQ in patients with CHD-CHF, but B + D had better efficacy. Unlike A + C + D, B + C + D was the best intervention to improve MLHFQ. In contrast with interventions, including Dand C + D, B + D was the most clinically effective intervention. Unlike interventions including B + C + D, C + D, and D, A + C + D was the most clinically efficient intervention.

Conclusion:
The findings of this NMA showed that traditional Chinese health exercises integrated with conventional treatment are more effective than conventional treatment (D) alone in patients with CHD-CHF, with A + D, B + D, B + C + D, and A + C + D considered potentially optimal treatment interventions.
PRISMA-the 100 most-cited articles on chondrosarcoma recurrence: A bibliometric analysis
Authors: Xin Baoquan , Bai Guangjian , Gao Pan , Huang Xing , Liu Tielong 
Published: December 2023

Background:
Chondrosarcoma (CHS) is highly prone to recurrence and has become the most common malignant bone tumor in adults. The authors aim to identify and analyze the top 100 most-cited articles in this field, enabling researchers to quickly grasp the research focus and progress in the area of chondrosarcoma recurrence.

Methods:
A search in the Web of Science database yielded a total of 305 articles related to CHS recurrence between 2013 and 2022. Filtering was done based on the titles and abstracts of the articles in the list, and the top 100 most-cited articles were selected. The following information were analyzed using bibliometric methods: article title, first author, year of publication, journal of publication, total citations, country, institution, and keywords.

Results:
Among the selected 100 articles, the most frequently cited one has 224 citations. The most commonly appearing journals, institutions, and countries are as follows: “Clinical Orthopaedics Related Research” (5 times); Fudan University, University of Texas System, and Royal Orthopaedic Hospital (4 times each), with China and the USA cited the most (21 times each). The year 2018 is the most productive year (17 articles). About 97 first authors contributed one article each, and 3 had 2 articles each. Among all 229 keywords, the top 3 in frequency are CHS (20%), recurrence (4%), and surgery (3%). Twenty article topics are related to surgical treatment.

Conclusion:
Research on CHS recurrence is citation-rich but focuses more on treatments than understanding mechanisms, indicating a need for deeper mechanistic exploration for treatment breakthroughs in the future.
Integrating network pharmacology and experimental verification to explore the mechanism of Tripterygium wilfordii in ankylosing spondylitis
Authors: Chen Yuening , Liu Zhaoyi , Yu Qing , Qu Xinning , Liu Hongxiao 
Published: December 2023

Objective:
This study aimed to validate the mechanism of triptolide in treating ankylosing spondylitis (AS) through network pharmacology, molecular docking, and in vitro experiments.

Methods:
We gathered AS-related genes using databases including DrugBank, OMIM, GeneCards, TTD and DisGeNET. TCMSP database was used to collect Tripterygium wilfordii (TWHF)-related data. Additionally, the potential targets of TWHF in treating AS were predicted by consulting databases such as Venny, String, Cytoscape, and Cytohubba. Subsequently, a protein-protein interaction network was created and the gene ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analysis were performed by metascape database. After selecting the most active ingredient of TWHF, molecular docking was performed to confirm the predicted results. Furthermore, we explore the potential mechanism of the most active ingredient of TWHF in the treatment of AS in vitro.

Result:
By integrating the results of network pharmacological analysis, 62 genes were found to be strongly associated with AS, such as STAT3, TNF, MMP9, VEGFA, CXCL8, PTGS2, etc. Triptolide (TP) is one of the most active ingredients in TWHF. The enrichment analysis indicated that 292 biological processes and 132 signaling pathways were involved, with the T helper 17 cells cell differentiation pathway as the key pathway. TP was selected for molecular docking and in vitro experiments. The molecular docking results indicated that TP had excellent affinity with 6 key targets. Further, flow cytometry, cell counting assay, and ELISA demonstrated that the serum level of IL-17 was higher in AS patients compared to XXX, and 25 μg/mL TP was the optimal intervention concentration. RT-qPCR and Western blotting further verified that TP could inhibit the activation of RORγt and the JAK2/STAT3 signaling pathway.

Conclusion:
In conclusion, based on network pharmacology, molecular docking, and experimental verification in vitro, we proposed that the TP can inhibit the activation of RORγt and the JAK2/STAT3 signaling pathway and inhibit the differentiation of T helper 17 cells cells. The article provide a theoretical basis for further development and utilization of TWHF in AS management.
Macrophages in head and neck squamous cell carcinoma: A bibliometric analysis
Authors: Liang Sai , Wang Ji , Ma Zhaolei , Yu Ming , Gong Zheng-Peng 
Published: December 2023

Introduction:
The tumor microenvironment in head and neck squamous cell carcinoma (HNSCC) is densely infiltrated by macrophages. Utilizing bibliometric analysis, the characteristics, hotspots for research, and research frontiers related to macrophages in HNSCC were reviewed.

Methods:
The Web of Science Core Collection database was queried for relevant articles published from 2000 to 2022. VOSviewer and CiteSpace software were utilized to evaluate and visualize macrophage-related HNSCC research trends and hotspots.

Results:
Assessment of original articles revealed that the annual number of publications regarding the role of macrophages in HNSCC has increased steadily over the past 23 years. China produced the most articles, whereas the United States had the highest number of citations and highest H-index. Wuhan University and Oral Oncology were the most productive affiliation and journal, respectively. The paper published by Bray et al in the CA-A Cancer Journal for Clinicians in 2018 had the greatest number of citations. The keywords “expression,” “cancer,” and “tumor-associated macrophages (TAMs)” occurred most frequently.

Conclusions:
This bibliometric investigation discovered that publications about macrophages in HNSCC are steadily increasing. The majority of studies focused on macrophage polarization, macrophage markers, and inflammation in the tumor microenvironment. Furthermore, our bibliometric analysis revealed that the immunosuppressive role of tumor-associated macrophages in the tumor microenvironment and resistance to therapy in HNSCC have recently received attention.
Intradural extramedullary spinal choristoma: A case report
Authors: Wu XueRui , Cheng Xue-Liang , Kang Ming-Yang , Dong Rong-Peng , Qu Yang , Zhao Jian-Wu 
Published: December 2023

Rationale:
A choristoma is a rare and benign neoplasm characterized by the presence of normal tissue in an anomalous anatomical location. In contrast, choristoma tend to occur in other body regions rather than within the spinal canal. Before our findings, only 4 cases of intraspinal choristoma had been recorded. Because its composition is complex and very rare, routine examinations, such as magnetic resonance imaging, are difficult to diagnose, and the possibility of its occurrence is often missed in clinical diagnosis. If there is no specificity in its components, such as in this case, even pathological examinations can only confirm the diagnosis as choristoma after eliminating other possibilities. Therefore, in clinical practice, when encountering patients with intraspinal tumors, it is essential to consider the possibility of choristoma. In this case, the choristoma lack of specific constituent composition sets it apart from previously reported intraspinal choristoma, significantly raising the diagnostic challenge, which offers valuable insights for clinical diagnosis.

Patient concerns:
A female patient aged 48 years was admitted to our medical center due to experiencing persistent lower back pain accompanied by radiating pain in both legs for 5 months. Based on the findings from the neurological physical examination and magnetic resonance imaging, the patient was diagnosed with an intradural space-occupying lesion located at the level of the first lumbar vertebral body. We performed an enhanced magnetic resonance neurography examination to further determine the positional relationship between the occupation and nerves in preparation for surgery. Postoperative pathological biopsy showed that the mass was an intraspinal choristoma.

Diagnosis:
Intradural extramedullary spinal choristoma.

Intervention:
Occupied lesion is removed surgically.

Outcomes:
After surgery, all symptoms were significantly relieved, and when the patient was discharged, all symptoms disappeared completely. There was no sign of recurrence after 1 year of follow-up.

Lessons:
Intraspinal choristomas are not specific and need to be diagnosed by pathologic examination. Early detection of and intervention for intraspinal tumors can mitigate nerve dysfunction.
Neonatal Kabuki syndrome caused by KMT2D mutation: A case report
Authors: Li Zhang , Ning Zou 
Published: December 2023

Background:
Kabuki syndrome (KS) is an autosomal dominant inherited syndrome that involves multiple organs and systems. Gene mutation is the main cause of KS. The reported mutations in X-linked histone H3 lysine 4 methylase (KMT2D) and KDM6A genes are 2 relatively clear pathogenic pathways. In this paper, we report a case of KS with neonatal hypoglycemia and special features caused by KMT2D gene mutation confirmed by whole exome sequencing, it enriched the clinical phenotype spectrum and gene mutation spectrum of KS, which helps to improve the understanding of the disease.

Case report:
Through whole exome sequencing, we performed gene diagnosis of a newborn child with special facial features and multiple malformations, which revealed heterozygous mutation of NM_003482.3:c.755dupA(p.His252Glnfs*21) in KMT2D gene. It is consistent with the pathogenesis of KS, an autosomal dominat genetic disease caused by KMT2D gene mutation. This pathogenic mutation has not been prebiously reported.

Discussion:
KS has strong clinical characteristics and biological heterogeneity. Genetic diagnosis can help identify mutant gene types. However, the relationship between genotype and phenotype has not been fully clarified. The molecular etiological mechanism still needs to be further explored and elucidated.
Challenges and diagnosis in therapy of secondary amenorrhoea in caesarean section patient with postpartum haemorrhage B-lynch sutures: a case report
Authors: Harzif Achmad Kemal , Nurbaeti Putri , Andyra Azizah Fitriayu , Wiweko Budi 
Published: December 2023

Introduction and importance:
International Federation of Gynecology and Obstetrics (FIGO) and WHO report the incidence of postpartum haemorrhage (PPH) reaches 1–10% and contributes to an increase in postpartum maternal mortality with uterine atony as the most common cause. B-Lynch method is a suturing technique to overcome PPH. Although this method has proven useful as an emergency life-saving measure, the post-procedure complications are still able to occur.

Presentation of case:
The patient was not menstruating for 14 months after giving birth through caesarean section with B-Lynch due to PPH. Before pregnancy, she had regular menstruation cycle and normal menstrual duration. Her general and gynaecological status were normal. Ultrasound showed the impression of uterine hypoplasia and endometrium that were difficult to assess while both ovaries were normal. Diagnostic hysteroscopy showed a severe degree of Asherman’s syndrome. The results of FSH, LH and estradiol were normal.

Discussion:
B-lynch suture is performed as a method to stop PPH in uterine atony. Secondary amenorrhoea occurs as a complication of B-lynch. Compression action of B-lynch can cause progressive myometrium necrosis resulting in synechiae and blockade of uterine blood flow. This will interfere with the development of the uterus. Intrauterine adhesions and amenorrhoea with normal levels of FSH, LH, and estradiol support the diagnosis of Asherman’s syndrome.

Conclusion:
This case shows that the B-Lynch procedure, which is the worldwide recommended method for treating postpartum haemorrhage due to its high success rate, can cause complications of Asherman’s syndrome and cause secondary amenorrhoea.
Un-diagnosed coarctation of the aorta in a 27-year-old adult with a rare presentation: a rare case report
Authors: Shhada Eman , Saleh Mohannad , Kf Alghazal Mohammad A. , Wasel Naser 
Published: December 2023

Introduction and importance:
Coarctation of the aorta (COA) is a rare form of congenital heart disease that is typically diagnosed in children. COA is known to present with hypertension, weak or absent femoral pulses, heart failure in older patients, but the presentation of COA as calf atrophy is extremely rare. This article reports the successful surgical repair of a 27-year-old adult with undiagnosed COA.

Case presentation:
A 27-year-old-male has presented with calf atrophy, which was diagnosed as COA transthoracic echocardiography and computed tomography angiography indicate COA, which is treated with successful surgical repair.

Clinical discussion:
COA is typically diagnosed in children with a rare incidence in adults. Calf atrophy is an extremely rare presentation and uncommon. He has calf atrophy, which led to the diagnosis of COA in 27 years. The presentation in this medium-aged population with this rare manifestation gives our case significance to be one of the unique reported cases.

Conclusion:
COA is uncommon to be found in adults and the presentation with calf atrophy is even rare. The authors revealed that COA can be found in adults and with an unexpected manifestation and highlights the significance of early detection, and timely referral to a specialist can enable proper management, which includes surgical correction.