bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical value of multi-gene testing in distinguishing benign and malignant thyroid nodules
Authors: Zhang Murui , Hu Xiaotong , Liu Lunming , Wang Yihong , Jiang Junchang , Li Hui , Fei Weiqiang , Zhong Tingting , Jiang Zhinong 
Published: February 2024

Background:
The newly released 2022 WHO Classification of Neuroendocrine Neoplasms (version 5) and a recent update on thyroid tumor classifications have emphasized genetic testing to an unprecedented level. Fine needle aspiration (FNA) has been widely applied for the preoperative diagnosis of thyroid nodules. However, it is limited mainly to testing for a single gene-BRAFV600E, whereas multi-gene testing data are scarce, especially in the Asian population. This study aimed to explore the clinical value of multi-gene testing in the differential diagnosis of benign and malignant thyroid nodules based on the 2023 Bethesda System for Reporting Thyroid Cytopathology (BSRTC).

Methods:
A total of 615 thyroid nodules underwent ultrasound-guided fine-needle aspiration cytology (FNAC) were collected from Sir Run Run Shaw Hospital, Zhejiang University School of Medicine. The next-generation sequencing platform was applied for multi-gene testing. A panel of well-recognized commonly mutated genes in thyroid cancer were analyzed, including BRAFV600E, KRAS, NRAS, HRAS, TERT, TP53, PAX8/PPARG, CCDC6/ RET and NCOA4/ RET.

Results:
Gene mutations were identified in 324 nodules (52.7%), with BRAFV600E being the most prevalent driver gene alteration observed in this cohort (233/324; 79.1%), followed by RAS (77/324, 23.8%). The overall malignancy rate of gene mutations was 89.7% in our cohort, of which the lymph node metastasis rate was 45.3%. The combination of multi-gene testing and cytology resulted in 89.3% sensitivity, 95.2% specificity, 98.9% positive predictive value, 64.5% negative predictive value and 90.3% accuracy, which were significantly higher than those from mere cytology (sensitivity 68.6%, specificity 87.5%, positive predictive value 95.9%, negative predictive value 39.8%, accuracy 72.2%).

Conclusions:
Multi-gene testing could substantially enhance the detection rate of malignant thyroid nodules and protect patients with benign nodules from unnecessary surgeries. Multi-gene testing provides a valuable reference for individualized preoperative decision-making, which may serve as a crucial method for postoperative treatment and prognosis assessment.
Sudden cardiac arrest during endovascular embolization of carotid artery aneurysm: A case report and literature review
Authors: Liu Ziqiang , Ma Xuecai , Yang Tianhui 
Published: February 2024

Rationale:
Endovascular embolization has been widely applied in carotid artery aneurysm due to less trauma and simpler procedures than open surgery. Sudden cardiac arrest is a rare event that may cause severe consequences during endovascular embolization. Risk factors of perioperative cardiac arrest include cardiac surgery, younger age, comorbid conditions, and emergency surgery.

Patient concerns:
A 62-year-old male patient had hypertension for 15 years and experienced sudden cardiac arrest of pulseless electrical activity during endovascular embolization.

Diagnoses:
He was diagnosed with a 3.5 × 2.5 mm aneurysm.

Interventions:
Chest compression and effective interventions were given.

Outcomes:
He was resuscitated by cardiopulmonary resuscitation and systematic therapy.

Lessons:
This case may provide experience in the management of sudden cardiac arrest during endovascular embolization of a carotid artery aneurysm.
Total knee arthroplasty in patients with Klippel Trenaunay syndrome and knee osteoarthritis: A case report and a literature review
Authors: Li Jiaxi , Lv Guangshui , Han Zhiyuan , Xin Xin 
Published: February 2024

Introduction:
Klippel Trenaunay syndrome (KTS) is a rare congenital disorder characterized by wine staining, varicose veins, bone hypertrophy, and soft tissue hyperplasia. KTS usually occurs at birth, early infancy or childhood. The rarity of disease makes it difficult to calculate its incidence rate. However, few studies report the incidence rate of 2 to 5 cases per 100 thousand. Furthermore, evidence demonstrates that KTS is more prevalent among males compared to females.

Case presentation:
An elderly male aged 67, was admitted to the hospital for chronic pain in his left knee. An outpatient physical examination reveals a significantly thicker left lower limb accompanied by multiple varicose veins. The right lower limb was 2 cm short on the opposite side, and the right foot was stunted with high arch deformity. The entire body was covered in a red grape globus, which faded after pressing. He was diagnosed with KTS. We performed TKA for him after blood coagulation examination. The patient recovered well after the operation. He was followed up for 1 year, The patient is in good condition and satisfied with the operation.

Conclusion:
For patients with KTS, total knee arthroplasty is an effective surgical procedure to treat arthritis. However, some risks must be considered, and appropriate surgical preparation must be undertaken.
Could medial malleolus fracture be combined with deltoid ligament injury?: A rare case report
Authors: Li Mingyan , Liu Zihao , Dong Guixian 
Published: February 2024

Rationale:
Medial malleolus injuries mainly comprise of fractures and deltoid ligament ruptures. Medial malleolus fractures, as a kind of common ankle fractures, could occur separately or be accompanied by lateral and posterior malleolus fractures. It is generally agreed that medial malleolus fracture and deltoid ligament rupture could not occur simultaneously.

Patient concerns:
In our study, we report a case of 36 year-old man diagnosed with trimalleolar fracture accompanying ankle dislocation initially. The patient was admitted to our hospital due to traffic accident.

Diagnosis:
The patient was diagnosed with trimalleolar fracture accompanying ankle dislocation initially. We missed the diagnosis of accompanied deltoid ligament due to the arthralgia of medial ankle and the widened medial articular space in X-ray after operation.

Intervention:
As we missed the diagnosis of accompanied deltoid ligament, we only selected open reduction and internal fixation for trimalleolar fracture at first. After we realized the existence of deltoid ligament rupture, the patient refuse further diagnosis and treatment in our hospital.

Outcomes:
During the rehabilitation exercise, the patient had medial arthralgia in his right ankle. He complained it and refuse further diagnosis and treatment in our hospital.

Lessons:
The newfound injury pattern, medial malleolus fracture accompanying deltoid ligament rupture, has not been reported in previous studies. The injury pattern needs further researches to explore the mechanism and it should be taken seriously in clinical practice.
Pelvic squamous cell carcinoma of unknown primary origin with hydronephrosis and ureteral stricture: A case report
Authors: Meng Wenjun , Gao Yuchen , Pan Lu , Zhao Guowei , Chen Qi , Bai Lian , Zheng Rujun 
Published: February 2024

Background:
Cancer of unknown primary (CUP) is a very challenging disease, accounting for 2% to 9% of all new cancer cases. This type of tumor is a heterogeneous tumor whose primary site cannot be determined by standard examination. It has the characteristics of early metastasis, strong aggressiveness, and unpredictable mode of metastasis. Studies have shown that there is no consensus on the treatment of CUP and that there is a wide range of individual differences. In most cases, surgical removal of tumor is the most typical treatment for pelvic tumors. Herein, we report a case of a large pelvic tumor of unknown origin that had compressed the sigmoid colon and ureter and was completely removed by surgery. Postoperative diagnosis was pelvic metastatic squamous cell carcinoma.

Case summary:
A 68-year-old man with pelvic tumor who initially complained of recurrent low back pain and painful urination. The mass was initially diagnosed as a pelvic tumor of unknown origin. The patient underwent complete resection of the tumor by laparotomy. The tumor was pathologically diagnosed as squamous cell carcinoma.

Conclusion:
Based on the treatment experience of this case, surgery alone cannot improve the poor prognosis of CUP. Since chemotherapy and immunotherapy have achieved promising efficacy in various cancers, and immunotherapy has the characteristics of low side effects and good tolerability, we recommend that patients with CUP should receive chemotherapy and/or immunotherapy for better survival outcomes.
Delayed low-dose methotrexate excretion in a rheumatoid arthritis patient: A case report and literature review
Authors: Yan Qingzi , Lei Haibo , Gong Ting , Liu Renzhu , Liu Xiang 
Published: February 2024

Rationale:Low-dose methotrexate has a relatively good safety profile. However, in cases where patients with multiple risk factors, a delayed excretion has been observed, resulting in the occurrence of severe adverse reactions. It is necessary to supervise and intervene throughout the entire process of treating patients with multiple risk factors for methotrexate, and to strengthen the rational application of methotrexate.Patient concerns and diagnoses:A 66-year-old male patient was admitted to our hospital with rheumatoid arthritis and underlying conditions such as chronic obstructive pulmonary disease (COPD). This patient received treatment with low-dose MTX (10 mg/week) and experienced adverse reactions including anemia. He was diagnosed with methotrexate-induced bone marrow suppression.Interventions and outcomes:The therapeutic drug monitoring revealed that the serum drug concentration of methotrexate was at a critical level and the patient was rescue with calcium folinate and other adjuvant therapy such as transfusions of red blood cells, plasma, platelets, oral Yixuesheng tablets and Leucogen tablets. We conducted a 1-month follow-up, and there was no recurrence of bone marrow suppression and anemia.Lessons:To ensure rational administration of methotrexate, it is important to fully evaluate the clinical manifestations and physical condition of patients and regularly detecting the serum drug concentration of methotrexate when patients with multiple risk factors, Otherwise, even low-dose methotrexate administration may cause delayed excretion, resulting in severe adverse reactions.
Ketonuria in an adult with Prader-Willi syndrome and diabetes mellitus: A case report
Authors: Xu Xiaoqing , Wang Dayang , Pan Huichai , Li Jun , Li Bowu , He Zhongchen 
Published: February 2024

Rationale:
Prader-Willi syndrome (PWS) is a genetic disorder affecting multiple systems. Approximately one-quarter of PWS patients will develop diabetes. Given the uncontrolled hyperphagia and resultant severe obesity in these patients, their glycemic management poses a significant challenge.

Case report:
We present the clinical profile of a male patient diagnosed with both PWS and diabetes. Previous administration of the sodium-glucose co-transporter 2 (SGLT-2) inhibitor Canagliflozin resulted in improved glycemic control and weight management. But at the age of 25, the patient was hospitalized due to worsened glycemic control and the detection of ketonuria. After thorough examination and clinical observation, we discovered that the patient ketonuria was associated with enhanced lipid metabolism related to Canagliflozin. After excluding the risk of SGLT-2 inhibitor-induced euglycemic diabetic ketoacidosis, adjustments of the hypoglycemic regimen, building upon prior treatment, were recommended for the patient.

Conclusion:
It is important to note that among patients with both PWS and diabetes, the utilization of SGLT-2 inhibitors can lead to the emergence of ketonuria due to increased lipolysis. Therefore, any decision to discontinue SGLT-2 inhibitors should undergo thorough evaluation.
Application of the 2022 ACR/EULAR criteria to Chinese patients with previously diagnosed eosinophilic granulomatosis with polyangiitis: The concordance rate between the 2022 ACR/EULAR criteria and the 1990 criteria for EGPA in China
Authors: Han Qian , Li Jie , Wang Jing , Zhang Liming , Zhang Jun 
Published: February 2024

This study aimed to investigate the concordance rate between the 2022 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) criteria and the 1990 criteria for eosinophilic granulomatosis with polyangiitis (EGPA) in Chinese patients.
68 patients were diagnosed with EGPA according to the 1990 ACR criteria in the Department of Respiratory and Critical Care Medicine, Beijing Chao-yang Hospital Department, from May 2005 to December 2022, and those patients were reclassified using the 2022 ACR/EULAR criteria for EGPA. Among the 68 patients, 88.2% (60 cases) met the 2022 ACR/EULAR criteria for EGPA, and 11.8% (8 cases) patients failed to meet the new criteria. Only 66.2% of the patients were detected blood eosinophil count ≥ 1 × 109/L, while more patients (77.9%) met the item blood eosinophil count > 10% in the 1990 criteria. The report rate of nasal polyps was 13.2% in these patients. The concordance rate between the 2022 ACR/EULAR criteria and the 1990 criteria for EGPA was 88.2%. Compared with the 1990 criteria, the 2022 ACR/EULAR put more weighting on the blood eosinophil count and nasal polyps, while the diagnostic rate of them is low in Chinese patients. Thus improving the positive rate is important and routinely screening for nasal polyps should be performed in the future.
Genetic testing for familial hypercholesterolemia
Authors: Zhang Yiyi , de Ferranti Sarah D. , Moran Andrew E. 
Published: February 2024

Purpose of review
Despite familial hypercholesterolemia (FH) being the most common genetic cause of cardiovascular disease (CVD), genetic testing is rarely utilized in the US. This review summarizes what is known about the clinical utility of genetic testing and its role in the diagnosis and screening of FH.

Recent findings
The presence of an FH-causative variant is associated with a substantially higher risk of CVD, even when low-density lipoprotein cholesterol (LDL-C) levels are only modestly elevated. Genetic testing can facilitate the identification of FH cases who may be missed by clinical diagnostic criteria, improve risk stratification beyond LDL-C and family history, guide treatment decisions, and improve treatment initiation and adherence. Genetic testing can be incorporated into FH screening and diagnosis algorithms, including cascade, targeted, and universal screening. Integrating genetic testing into cascade screening can enhance the effectiveness of the process. Several models of universal FH screening with coordinated genetic and lipid testing are feasible and effective.

Summary
More systematic integration of genetic testing into FH diagnosis and screening can significantly reduce the burden of this condition through early detection and treatment. Further pragmatic implementation studies are needed to determine how to more effectively and affordably integrate genetic testing into clinical lipid screening programs.
Recent advances in the prevention of respiratory syncytial virus in pediatrics
Authors: Lipp Madeline A. , Empey Kerry M. 
Published: February 2024

Purpose of review
Respiratory syncytial virus (RSV) is a ubiquitous virus and the leading cause of pediatric hospitalization in the United States. Prevention strategies are key for reducing the burden of RSV. Several new agents aimed at preventing RSV in infants and children were FDA-approved in 2023, and many more are in the development pipeline. This review highlights new developments in RSV prevention in pediatric patients and the important safety considerations for clinical trials.

Recent findings
Two new preventive therapies were FDA approved in 2023; a maternal vaccine (Abrysvo) and a mAb (Beyfortus) have both demonstrated reduction in medically attended lower respiratory tract infections in infants and children. Evaluation of ongoing clinical trials demonstrates that the field is expanding further to include direct immunization of infants and children utilizing a variety of delivery modalities. While these developments present the optimistic prospect of RSV prevention in a range of ages, acute and long-term risks must be carefully evaluated.

Summary
Prevention of RSV is more accessible than ever, but careful consideration must be given to risks associated with new and developing prevention strategies. Rigor of clinical trials including longitudinal outcomes of agents in development and postmarketing surveillance of newly approved therapies will be of paramount importance to ensure long-term safety of new RSV prevention strategies.
Factors Associated With Sleep Quality Among Undergraduate Nursing Students During Clinical Practicums
Authors: Wang Weiwen , Scott Paul Wesley , Kelly Susan H. , Sherwood Paula R. 
Published: February 2024

Background:
Limited evidence exists on factors influencing nursing students’ sleep quality during clinical practicums.

Purpose:
This study examined the sleep quality of nursing students and factors that affect sleep quality during clinical practicums.

Methods:
Undergraduate nursing students (n = 135) enrolled in clinical practicums in 3 universities completed questionnaires including sociodemographics and the Pittsburgh Sleep Quality Index (PSQI). Stepwise linear regression evaluated factors predicating sleep quality.

Results:
Seventy percent of nursing students reported poor sleep quality. Weekly work hours and clinical hours were significant factors in predicting global PSQI scores, subjective sleep quality, sleep duration, sleep efficiency, and daytime dysfunctions. The students’ race was related to sleep latency and sleeping medication. Clinical hours and living on campus were associated with sleep disturbances.

Conclusion:
Knowing the factors that influence nursing students’ sleep during clinical practicums, nurse educators can help students improve sleep health and clinical experience.
A Comparative Investigation of Equine-Related and Bovine-Related Human Fatalities in Oklahoma
Authors: Peterson Kaylan , Lord Wayne , Miller Ross , McCoy Mark , Dwyer Timothy , Fortney Amber , Laverty Sean 
Published: February 2024

Abstract
This study examined 71 cases, where 45 cases were equine-related and 26 were bovine-related. Data for this study were collected by examining cases between 2000 and 2022 from the Oklahoma Office of the Chief Medical Examiner database.
A majority of the equine-related fatality cases involved males aged 0 to 18 and 60 to 69 years, with sustained injuries of the head, neck, and thoracic regions while being mounted. These injuries were most often inflicted by being kicked or resulted from blunt force of impact. A majority of the bovine-related fatality cases involved males aged 60 to 79 years, with sustained injuries of the head, neck, and thoracic regions while being unmounted. These injuries were most often inflicted by being butted, trampled, or resulted from blunt force of impact. Of the total cases, approximately 42% of the causes of death were blunt force trauma of the head/neck and nearly 34% were multiple blunt force injuries. Only 3 mechanisms of death were discussed.
There are distinct similarities in the most prominent gender, cause of sustained injury, and location of injury between equine- and bovine-related fatalities in Oklahoma. This study lends significant support to the need for increased awareness of safe handling practices and safety precaution education for both equine and bovine activities.
Association Between Neighborhood Socioeconomic Factors and Length of Stay After Surgery for Congenital Heart Disease
Authors: Lubarsky Daniel , Van Driest Sara L. , Crum Kimberly , Fountain Darlene , Kannankeril Prince J. 
Published: February 2024

OBJECTIVES:
Neighborhood socioeconomic status, as measured by area deprivation index (ADI) is associated with longer length of stay (LOS) after surgery for hypoplastic left heart syndrome. We tested the hypothesis that LOS is associated with ADI in a large cohort of congenital heart disease (CHD) surgical cases of varying severity and sought to determine which other components of the ADI accounted for any associations.

DESIGN:
Retrospective analysis of a curated dataset. The Brokamp ADI was determined using residential addresses. Overall, ADI and each of its six individual components were dichotomized, and LOS compared between groups above versus below the median for the entire cohort and after stratifying by surgical The Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery (STAT) severity category.

SETTING:
Single-center academic pediatric teaching hospital.

PATIENTS:
CHD patients who underwent surgical repair/palliation between September 2007 and August 2022.

INTERVENTIONS:
None.

MEASUREMENTS AND MAIN RESULTS:
A total of 2462 patients (52.7% male) were included. Median age was 254 (interquartile range [IQR] 95–1628) days and median LOS in the hospital was 8 (IQR 5–18) days. We failed to identify an association between Brokamp ADI, above versus below the median for the entire cohort, and LOS; nor in STAT categories 1–4. However, in STAT category 5 (n = 129) those with ADI above the median (more deprived) had a significantly longer LOS (48 [20–88] vs. 36 [18–49] d, p = 0.034). Of the individual components of the ADI, only percent below poverty level and percent vacant houses were associated with LOS in STAT category 5.

CONCLUSIONS:
LOS after CHD surgery is associated with Brokamp ADI in STAT category 5 cases, we failed to identify an association in lower-risk cardiac operations.
Specific plasma microRNAs are associated with CD4+ T-cell recovery during suppressive antiretroviral therapy for HIV-1
Authors: Kroeze Stefanie , Kootstra Neeltje A. , van Nuenen Ad C. , Rossouw Theresa M. , Kityo Cissy M. , Siwale Margaret , Akanmu Sulaimon , Mandaliya Kishor , de Jager Marleen , Ondoa Pascale , Wit Ferdinand W. , Reiss Peter , Rinke de Wit Tobias F. , Hamers Raph L. 
Published: February 2024

Objective:
This study investigated the association of plasma microRNAs before and during antiretroviral therapy (ART) with poor CD4+ T-cell recovery during the first year of ART.

Design:
MicroRNAs were retrospectively measured in stored plasma samples from people with HIV (PWH) in sub-Saharan Africa who were enrolled in a longitudinal multicountry cohort and who had plasma viral-load less than 50 copies/ml after 12 months of ART.

Methods:
First, the levels of 179 microRNAs were screened in a subset of participants from the lowest and highest tertiles of CD4+ T-cell recovery (ΔCD4) (N = 12 each). Next, 11 discordant microRNAs, were validated in 113 participants (lowest tertile ΔCD4: n = 61, highest tertile ΔCD4: n = 52). For discordant microRNAs in the validation, a pathway analysis was conducted. Lastly, we compared microRNA levels of PWH to HIV-negative controls.

Results:
Poor CD4+ T-cell recovery was associated with higher levels of hsa-miR-199a-3p and hsa-miR-200c-3p before ART, and of hsa-miR-17-5p and hsa-miR-501-3p during ART. Signaling by VEGF and MET, and RNA polymerase II transcription pathways were identified as possible targets of hsa-miR-199a-3p, hsa-200c-3p, and hsa-miR-17-5p. Compared with HIV-negative controls, we observed lower hsa-miR-326, hsa-miR-497-5p, and hsa-miR-501-3p levels before and during ART in all PWH, and higher hsa-miR-199a-3p and hsa-miR-200c-3p levels before ART in all PWH, and during ART in PWH with poor CD4+ T-cell recovery only.

Conclusion:
These findings add to the understanding of pathways involved in persistent HIV-induced immune dysregulation during suppressive ART.