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Case Report Open Access
Serena Wong, Natalia Buza, Pei Hui
Published online May 26, 2025
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Journal of Clinical and Translational Pathology. doi:10.14218/JCTP.2025.00005
Abstract
Malignant mixed Müllerian tumor (MMMT) or carcinosarcoma of the female genital tract is a rare but highly aggressive malignancy. We report a unique case of primary ovarian [...] Read more.

Malignant mixed Müllerian tumor (MMMT) or carcinosarcoma of the female genital tract is a rare but highly aggressive malignancy.

We report a unique case of primary ovarian MMMT with poorly differentiated angiosarcoma as its homologous sarcomatous component in a 53-year-old woman with a known germline BRCA1 mutation who presented with a pelvic mass. She underwent staging cytoreduction surgery including total hysterectomy, bilateral salpingo-oophorectomy, omentectomy, and pelvic and para-aortic lymph node dissections. The removed right ovarian tumor formed a 2.5 cm nodular to cystic mass replacing the entire organ. Microscopic examination revealed two distinct tumor components: high-grade serous carcinoma and poorly differentiated angiosarcoma. The proliferating sarcomatous cells were diffusely positive for CD31 and Factor VIII, but were negative for 100, SOX10 and cytokeratin. Both the serous carcinoma and angiosarcoma components demonstrated aberrant strong and diffuse p53 nuclear positivity. KRAS mutation analysis revealed guanine-adenine-thymine point mutation at codon 12 in both tumor components. Metastatic tumor was found involving the contralateral left ovary with the cellular composition of pure angiosarcomatous component.

This is the first report of an ovarian MMMT with angiosarcoma as its homologous sarcoma component. The presence of aberrant p53 expression and identical KRAS mutation in both the serous carcinoma and angiosarcoma components supports the theory of malignant mesenchymal transition/metaplasia in the development of MMMT.

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Original Article Open Access
Wei Hou, Yuanzhi Huang, Tang Shang, Zheng Wang, Wei Zhang, Kefi Wang, Yinjie Gao, Min Zhang, Sujun Zheng
Published online March 21, 2025
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Journal of Clinical and Translational Hepatology. doi:10.14218/JCTH.2025.00030
Abstract
Inherited metabolic liver diseases (IMLDs) have complex etiologies and vary widely in clinical presentation, with a significant overall incidence. With the advancements in diagnostic [...] Read more.

Inherited metabolic liver diseases (IMLDs) have complex etiologies and vary widely in clinical presentation, with a significant overall incidence. With the advancements in diagnostic and treatment technologies, an increasing number of children with inherited metabolic diseases are surviving into adolescence and adulthood. These advancements have improved our understanding of the IMLD disease spectrum and clinical outcomes. This study aimed to analyze changes in the disease spectrum and epidemiological characteristics of inherited metabolic liver diseases (IMLD) over the past 20 years in two specialized liver disease hospitals in northern China.

A retrospective analysis was conducted on IMLD cases diagnosed between January 1, 2002, and December 31, 2023, at two liver disease specialty hospitals in Beijing. Data were obtained from inpatient and outpatient hospital information systems, with diagnoses based on national and international IMLD diagnosis and treatment guidelines.

A total of 2,103 IMLD patients were analyzed, including 1,213 adults and 890 children. IMLD accounted for 4.58‰ of hospitalized liver disease patients during this period. The most common IMLD was Wilson’s disease, comprising 68% of all IMLD cases. The number of diagnosed IMLD types increased from 15 to 32 across two 11-year periods (2002–2012 and 2013–2023). Among pediatric patients, glycogen storage disease and Alagille syndrome were more prevalent in those under one year of age, while Wilson’s disease was prevalent across all age groups. In adult IMLD patients, Wilson’s disease, polycystic liver disease, and hereditary hyperbilirubinemia were more frequently observed.

Over the past 20 years, both the number of diagnosed IMLD cases and disease diversity have significantly increased, with Wilson’s disease remaining the most prevalent IMLD. These findings provide valuable insights for the long-term management of IMLD patients and the allocation of healthcare resources.

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Original Article Open Access
Omar Elwakil, Reda Elwakil, Waleed Abdel-Aty Hamed, Ola Hassan Nada, Amal Saad-Hussein, Dalia Ghoraba, Ethar M Badran
Published online March 19, 2025
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Journal of Translational Gastroenterology. doi:10.14218/JTG.2025.00001
Abstract
This study investigates upper gastrointestinal tract (UGIT) involvement in patients with ulcerative colitis (UC), a condition traditionally considered limited to the colon. Although [...] Read more.

This study investigates upper gastrointestinal tract (UGIT) involvement in patients with ulcerative colitis (UC), a condition traditionally considered limited to the colon. Although extra-colonic manifestations of UC are well recognized, UGIT issues have received less attention. This research aimed to document the clinical, endoscopic, and histopathological UGIT findings in adults with UC and assess their association with disease severity and extent.

This descriptive cross-sectional study was conducted at Ain Shams University over one year. A total of 78 UC patients underwent comprehensive clinical evaluations, including assessments of gastrointestinal complaints, medication history, disease progression, surgeries, and physical examinations. Endoscopic assessments of both the UGIT and colon were performed, accompanied by biopsies for histopathological analysis.

The study population had a mean age of 35.26 years, with a nearly equal gender distribution. Endoscopic findings revealed significant UGIT involvement: 64% of patients had esophagitis and/or gastroesophageal reflux disease, 93% had gastritis, and 80% had duodenitis. Histopathological findings showed notable inflammation, basal cell hyperplasia, and ulcerations in the esophagus, with 51.3% of patients exhibiting chronic gastritis and 38.5% testing positive for Helicobacter pylori infection. Statistical analysis demonstrated a strong association between colonic disease severity and UGIT endoscopic (p < 0.0001 and p < 0.001 in the esophagus and stomach, respectively) and histopathological (p < 0.004, p < 0.001, and p <0.005 in the esophagus, stomach, and duodenum, respectively) findings, particularly in patients with UGIT symptoms.

This study concludes that UGIT endoscopic and histopathological changes are prevalent among Egyptian UC patients, suggesting a significant link between UC and these UGIT findings.

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Original Article Open Access
María Jesús Ramírez-Expósito, María Pilar Carrera-González, Cristina Cueto-Ureña, José Manuel Martínez-Martos
Published online March 19, 2025
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Oncology Advances. doi:10.14218/OnA.2024.00033
Abstract
The development and progression of breast cancer may be influenced by thyroid hormone levels. In this study, we investigated thyroid function in pre- and postmenopausal women with [...] Read more.

The development and progression of breast cancer may be influenced by thyroid hormone levels. In this study, we investigated thyroid function in pre- and postmenopausal women with breast cancer, with and without neoadjuvant chemotherapy (NCh).

The study included 198 women diagnosed with infiltrating ductal carcinoma: 83 did not receive NCh (39 premenopausal and 44 postmenopausal), while 115 underwent NCh before surgery (63 premenopausal and 52 postmenopausal). Additionally, 78 healthy volunteers, aged 28 to 69 years, served as the control group. Serum levels of thyroid-stimulating hormone (TSH), free thyroxine (fT4), and free triiodothyronine (fT3) were quantified using chemiluminescent immunoassays.

We observed a significant increase in serum TSH and fT4 levels in both pre- and postmenopausal women with breast cancer, regardless of NCh treatment, compared to control subjects. However, postmenopausal women with breast cancer who received NCh showed lower fT4 levels than their untreated counterparts. Notably, fT3 levels increased only in premenopausal women with breast cancer who underwent NCh, compared to both the premenopausal control group and untreated premenopausal breast cancer patients.

Altered thyroid function was observed in both pre- and postmenopausal women with breast cancer, characterized by increased TSH and fT4 levels. Neoadjuvant chemotherapy appeared to attenuate the rise in fT4 levels in postmenopausal women while elevating fT3 levels in premenopausal women. These findings highlight the importance of monitoring thyroid hormone profiles in women with breast cancer, considering menopausal status, given their potential influence on tumor progression and chemotherapy effectiveness.

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Original Article Open Access
Sipu Wang, Gaoyue Guo, Han Wang, Xuqian Zhang, Wanting Yang, Jie Yang, Liping Wu, Chao Sun
Published online March 11, 2025
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Journal of Clinical and Translational Hepatology. doi:10.14218/JCTH.2025.00004
Abstract
Since the adoption of novel prognostic scores, such as the iterative model for end-stage liver disease (MELD 3.0) and the gender-equity model for liver allocation (GEMA), their [...] Read more.

Since the adoption of novel prognostic scores, such as the iterative model for end-stage liver disease (MELD 3.0) and the gender-equity model for liver allocation (GEMA), their utility has markedly expanded to diverse clinical scenarios. However, data concerning their prognostic value in more generalized cirrhotic populations are scarce. In this study, we aimed to elucidate the MELD 3.0/GEMA-Na for long-term mortality risk stratification and refine their usage scope.

This study retrospectively reviewed 310 hospitalized patients with decompensated cirrhosis. Discrimination and stratification were compared between MELD 3.0/GEMA-Na and other scores. Validation was performed in another 120 subjects.

In the investigated cohort, the median MELD-Na, MELD 3.0, and GEMA-Na were 9 (7, 12), 12 (10, 17), and 12 (9, 17), respectively. Compared to their predecessors, both MELD 3.0 and GEMA-Na models exhibited consistently better discriminative ability, especially in relation to long-term mortality. This effect was more pronounced for GEMA-Na, which was the only score to present an area under the receiver operating characteristic curve greater than 0.8 up to two years (0.807). Statistical analysis indicated that a MELD 3.0 score of 18 and a GEMA-Na score of 20 were the most optimal cutoffs to rank the risk of death, both of which were independently associated with two-year all-cause transplant-free mortality (MELD 3.0: hazard ratio: 1.13, 95% confidence interval: 1.10, 1.17; GEMA-Na: hazard ratio: 1.12, 95% confidence interval: 1.10, 1.17, both P < 0.001). Similar findings were affirmed in the validation cohort.

MELD 3.0 is superior to other MELD-based scores for long-term prognostication in hospitalized patients with cirrhosis, while GEMA-Na demonstrated even better accuracy and performance.

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Review Article Open Access
Weixin Chen, Yuan Xu, Hongsheng Liu
Published online June 30, 2025
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Cancer Screening and Prevention. doi:10.14218/CSP.2025.00005
Abstract
Lung cancer remains the leading cause of cancer-related mortality worldwide, with marked phenotypic differences observed among its major histological subtypes, adenocarcinoma (ADC), [...] Read more.

Lung cancer remains the leading cause of cancer-related mortality worldwide, with marked phenotypic differences observed among its major histological subtypes, adenocarcinoma (ADC), squamous cell carcinoma (SCC), and small cell lung cancer (SCLC), in both clinical presentation and therapeutic response. In recent years, metabolomics has emerged as a powerful tool for studying cancer metabolic reprogramming, providing new insights into the metabolic distinctions among lung cancer subtypes. This review summarizes recent research advances in the metabolomics of ADC, SCC, and SCLC. Studies have revealed that ADC and SCC display distinct metabolic profiles in lipid metabolism, amino acid metabolism, and cell membrane synthesis, while SCLC demonstrates a unique metabolic pattern. Through metabolomic technologies, particularly mass spectrometry and liquid chromatography, it is possible to effectively differentiate lung cancer subtypes and identify potential biomarkers for early diagnosis and personalized treatment. This review also explores the clinical potential of metabolomics in lung cancer, emphasizing its critical role in early diagnosis and subtype stratification. These methodological advances establish a robust foundation for precision oncology paradigms in thoracic malignancies.

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Original Article Open Access
Samuel T. Adeleke, Christopher Igbeneghu, Sina Iyiola
Published online May 26, 2025
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Cancer Screening and Prevention. doi:10.14218/CSP.2025.00004
Abstract
Histopathology is the gold standard in cancer diagnosis. However, attenuated total reflectance (ATR)-Fourier transform infrared (FTIR) spectroscopy has shown diagnostic potential [...] Read more.

Histopathology is the gold standard in cancer diagnosis. However, attenuated total reflectance (ATR)-Fourier transform infrared (FTIR) spectroscopy has shown diagnostic potential in other settings. Therefore, this study aimed to investigate the sensitivity and specificity of the ATR-FTIR spectroscopy in evaluating breast lesions.

This study was conducted on formalin-fixed, paraffin-embedded biopsy blocks received at Ladoke Akintola University of Technology Teaching Hospital between 2022 and 2023. The blocks were categorized into 10 normal (from benign breast tissue), 15 benign, and 31 malignant samples. Tissue sections of 15 µm were obtained during block trimming and floated onto FTIR slides. An additional 4 µm tissue sections were stained with hematoxylin and eosin for tumor diagnosis and to identify suitable areas on the FTIR slide. Spectrometer readings were taken within the range of 4,000–600 cm−1, 32 scans, and 16 cm−1 resolution, using the average of 10 preprocessed spectra per slide. Biomarkers were calculated by ratioing peak intensities for A1632/A1543, A1632/A2922, A1632/A1080, A1080/A1543, A1237/A1080, and A1043/A1543, which represent protein, diagnostic marker, cytoplasm-nucleus ratio, carcinogenesis marker, phosphate, and glycogen, respectively. The receiver operating characteristic curve was used to determine sensitivity, specificity, and the area under the curve (AUC).

The AUC analysis showed that cytoplasm-nucleus ratio values of 0.99 and 0.95 effectively distinguished normal from malignant tissue, and benign from malignant tissue, respectively (p < 0.0001). Additionally, protein marker (AUC = 0.73), diagnostic marker (AUC = 0.85), and cytoplasm-nucleus ratio marker (AUC = 0.94) were able to discriminate normal from benign tissue. Overall, the receiver operating characteristic analysis showed 100% sensitivity and specificity ranging from 54% to 87%. Glycogen (AUC = 1.00) exhibited 100% sensitivity in discriminating fibroadenoma from fibrocystic changes.

ATR-FTIR spectroscopy demonstrates high diagnostic accuracy in differentiating normal, benign, and malignant breast tissues using specific spectral biomarkers. Among these, the cytoplasm-nucleus ratio marker showed strong potential as a reliable spectral indicator for distinguishing various types of breast tumors. The cytoplasm-nucleus ratio marker demonstrated strong potential as a reliable spectral indicator for distinguishing various types of breast tumors.

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Original Article Open Access
Huiling Tian, Yujie Li, Shun Wang, Zidong Wang, Jiayi Yang, Hao Liu, Jingyu Ren, Jiheng Zuo, Yushan Gao, Ruosang Du, Zhigang Li, Xin Wang, Jing Jiang
Published online December 31, 2024
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Future Integrative Medicine. doi:10.14218/FIM.2024.00028
Abstract
Acupuncture treatment on the DU channel has shown therapeutic effects for Alzheimer’s disease (AD), but the underlying mechanisms are not yet clear. The purpose of this study was [...] Read more.

Acupuncture treatment on the DU channel has shown therapeutic effects for Alzheimer’s disease (AD), but the underlying mechanisms are not yet clear. The purpose of this study was to comprehensively observe the protective effects of acupuncture on different brain regions in AD model mice, providing laboratory evidence for clinical acupuncture intervention in AD.

Eleven senescence-resistant strain 1 male mice were used as the normal control group. The senescence-accelerated prone strain 8 (SAMP8) male mice were used as AD model mice. Thirty-three SAMP8 mice were randomly divided into three groups: AD model group (group M), drug treatment group, and acupuncture treatment group (group A). The effect of acupuncture on learning and memory capabilities of SAMP8 mice was assessed by the Morris water maze test. Nissl staining was employed to provide a general view of the brain structure in AD model mice. Additionally, Western blot analysis was used to quantify Caspase-3 and tau protein levels.

In the spatial navigation test, the ratio of time mice spent in the goal quadrant in group M remained low, even lower than 25%. The ratio of time spent in the goal quadrant by mice in the acupuncture group on day 4 was higher than that on day 1 (P < 0.01). There was a trend indicating that the time ratio of mice in the acupuncture group during the probe trial was higher than in group M, though there was no statistically significant difference. Most traces of mice in group A were in the goal platform quadrant and across the platform in different, yet effective, ways. Compared to group M, most of the cells in the frontal cortex, hippocampus, and temporal cortex of mice in group A were round with clear stratification, regular arrangement, and increased Nissl bodies. The content of Caspase-3 in the frontal cortex and hippocampus of mice in the acupuncture group was lower than in group M (P < 0.01, P < 0.05). The content of tau in the hippocampus and temporal cortex of mice in group A was lower than in group M (P < 0.05; P < 0.01).

Acupuncture at the DU channel can improve learning and memory abilities to a certain degree by reducing apoptosis in the frontal cortex and hippocampus and decreasing tau deposition in the hippocampus and temporal cortex of AD model mice.

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Case series Open Access
David Díaz-Pérez, Laura Colao-García, Nuria Chavarrías-Torija, Jaime Zabala-Salinas, Ana Gallardo-Herrera, Juan Carlos Puyana, Pablo Galindo-Jara, Luis Cabezón-Gutiérrez
Published online December 30, 2024
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Journal of Translational Gastroenterology. doi:10.14218/JTG.2024.00019
Abstract
The refusal of blood transfusions and blood derivatives compels surgeons to face clinical and ethical challenges. We reviewed our perioperative and long-term outcomes of Jehovah’s [...] Read more.

The refusal of blood transfusions and blood derivatives compels surgeons to face clinical and ethical challenges. We reviewed our perioperative and long-term outcomes of Jehovah’s Witnesses undergoing colon cancer surgery to evaluate the feasibility of bloodless procedures.

We retrospectively analyzed data from patients with colon cancer and Jehovah’s Witnesses who underwent surgery between January 2014 and December 2023. A protocol was systematically followed to optimize hemoglobin levels and other parameters according to the Enhanced Recovery After Surgery guidelines.

Sixteen patients underwent colon surgery, with a median age of 69 years and an equal gender distribution. Thirty-seven and a half percent had preoperative anemia and were managed by a hematologist. All procedures were performed in accordance with oncological standards. Postoperative treatment included low molecular weight heparin, and hemoglobin levels temporarily decreased postoperatively. No blood transfusions were needed during hospitalization. Two patients required surgical intervention due to postoperative hemorrhage. Complications included anastomotic dehiscence and perforation, with an overall morbidity rate of 25% and no 90-day mortality.

This study highlights the challenges in managing patients who reject blood products during colon cancer surgeries; however, the outcomes show results comparable to those of the general population with appropriate protocols. Preoperative optimization is crucial to reduce blood loss. Treatment of postoperative hemorrhage requires a lower threshold for intervention due to limited alternatives to blood products. Despite the limitations of the study, the findings advocate for careful monitoring and intervention. Larger studies are needed to validate these findings and improve care for this group of patients.

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Research Letter Open Access
Wei Qin, Yunyi Gao, Yuanyuan Zhao, Ning Bian, Weiguang Fan, Wei Wang, Yuan Gao, Zhongjie Hu
Published online June 19, 2025
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Journal of Clinical and Translational Hepatology. doi:10.14218/JCTH.2025.00172
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