OBJECTIVE: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

Abstract An 18-year-old female with Systemic Lupus Erythematosus (SLE) presented with bilateral thigh pain, fever, and diarrhea three days before admission. Diagnosed with SLE one month earlier, she reported prior symptoms, including joint pain, malar rash, hair loss, and hyperpigmented lesions. Initial investigations revealed elevated transaminase levels (AST 355, ALT 132), positive ANA, decreased complement levels (C3 68, C4 16.8), and raised creatine kinase (619). A muscle biopsy confirmed myositis. The patient was treated with immunosuppressant (a combination of steroids and hydroxychloroquine) and supportive therapy. By the eighth day of hospitalization, her symptoms, especially thigh pain, resolved. Electromyocardiography was done, and the results were normal, indicating therapeutic success. This case highlights the importance of prompt diagnosis and management of myositis as a rare SLE manifestation to achieve favorable outcomes.
Systemic Lupus Erythematosus (SLE) ; Myositis ; Muscle Biopsy ; Electromyocardiography

Background: Frozen section biopsy (FSB) is a critical intraoperative diagnostic procedure that supports real-time surgical decision-making. Its accuracy and clinical value depend not only on technical laboratory processes but also on physicians’ knowledge, attitudes, practices, and adherence to institutional clinical guidelines. In tertiary hospitals with high surgical volume, variations in guideline compliance may affect diagnostic reliability and patient safety. Objective: This study examined the knowledge, attitudes, and practices of medical doctors regarding FSB and assessed their adherence to institutional clinical guidelines and standards. Methodology: A descriptive-correlational research design was conducted among 105 surgical residents and fellows at a tertiary hospital in the Philippines. Data were collected using a validated, researcher-developed questionnaire that measured knowledge, attitudes, practices, and adherence to FSB clinical guidelines. Descriptive statistics were used to summarize levels of knowledge, attitude, practice, and adherence. Correlation analysis was performed to determine the relationships among these variables. Results: The respondents demonstrated a generally knowledgeable level of FSB knowledge (mean = 2.51), a neutral attitude toward FSB implementation (mean = 3.17), and a high level of procedural practice compliance (mean = 4.03). Adherence to institutional clinical guidelines was rated as sometimes observed across key domains, particularly in referral processes and endorsement protocols. Significant associations were identified between components of knowledge, attitudes, and practices and adherence to FSB standards. Conclusion While medical doctors showed adequate procedural practice and foundational knowledge of FSB, inconsistencies in adherence to institutional clinical guidelines remain. Strengthening policy dissemination, clarifying professional roles in FSB decision-making, and reinforcing interdisciplinary communication are necessary to enhance compliance, improve diagnostic reliability, and promote patient safety.
Frozen Sections ; Biopsy

Introduction: Metaplastic thymoma is an exceptionally rare thymic epithelial neoplasm, with fewer than 40 cases reported in the literature. It is defined by a distinctive biphasic proliferation of epithelioid epithelial nests and bland spindle cell fascicles, accompanied by a characteristic immunohistochemical profile. In limited cytology specimens, the lack of architectural context and potentially incomplete sampling can obscure the biphasic nature, leading to diagnostic difficulty. We describe a case initially interpreted as an epithelioid neoplasm on fine needle aspiration (FNA), with subsequent resection confirming metaplastic thymoma. Case Description: A 66-year-old male presented with an anterior mediastinal mass. FNA revealed a highly cellular specimen composed predominantly of polygonal tumor cells arranged in cohesive sheets. The cells displayed round to ovoid, hyperchromatic nuclei with moderate to marked pleomorphism, irregular nuclear membranes, conspicuous nucleoli, and abundant eosinophilic cytoplasm. Dystrophic calcifications were noted within a hemorrhagic background. An epithelioid tumor was favored on cytologic evaluation. The patient subsequently underwent video-assisted thoracoscopic surgery with excision of the mass. The specimen was well-encapsulated, lobulated, and traversed by fibrous septations. Microscopically, the tumor demonstrated a biphasic architecture: cohesive nests of epithelioid cells closely admixed with intersecting fascicles of bland spindle cells. Immature T-lymphocytes were not identified. Immunohistochemical staining showed diffuse cytokeratin and p40 positivity in the epithelioid component. In contrast, the spindle cell component lacked cytokeratin expression but exhibited strong vimentin positivity and patchy EMA reactivity. Both components were negative for CD5 and CD117. The Ki-67 proliferation index was low (1–2%). Discussion: Diagnosing metaplastic thymoma on cytology is challenging due to the tumor’s inherently biphasic architecture, which may not be adequately represented in limited FNA samples. In this case, the cytologic material disproportionately sampled the epithelioid component, masking the spindle cell element critical for diagnosis. Additionally, the lymphocyte-poor background mimicked type A or AB thymoma, further contributing to potential misclassification. Accurate diagnosis relies on careful integration of cytologic features with histologic, immunohistochemical, radiologic, and clinical data. Recognition of this rare entity is important, as its behavior differs substantially from other anterior mediastinal tumors, including thymic carcinoma and more aggressive thymoma subtypes. Conclusion Metaplastic thymoma can present as a purely epithelioid lesion on limited biopsy material, obscuring its hallmark biphasic nature. Awareness of this rare thymic neoplasm and correlation with resection findings are essential to avoid misdiagnosis. When accurately identified and completely excised, metaplastic thymoma carries an excellent prognosis.
Biopsy, Fine-Needle ; Thymoma

BACKGROUND

Thyroid fine-needle aspiration biopsy (FNAB) is widely used for thyroid nodule characterization, with approximately 2.7% of samples classified as "inadequate." Non-diagnostic samples pose limitations, resulting in repeated procedures, and unnecessary diagnostic thyroidectomies. Conventional smear (CS) is commonly the method of choice for cytologic preparation of thyroid FNAB. The cell block technique is an alternative that concentrates cells providing additional material for better evaluation and ancillary testing. While conventional smears are commonly used, introducing routine complementary cell blocks could potentially lower costs associated with repeat procedures and improve patient management.

The study aimed to investigate the diagnostic value of incorporating the cell block technique as adjunct to conventional smear technique in reducing nondiagnostic rates (Bethesda Category I) in thyroid-fine needle aspiration biopsies (FNAB) conducted in 2 private hospitals.

This is a multi-center, retrospective cross-sectional study with 701 samples from 528 adult patients, who underwent thyroid FNAB between January 2020 - September 2022. The primary outcome of interest is the reduction in non-diagnostic rates with the combined use of conventional smears and cell block.

The non-diagnostic rates were significantly higher with cell block technique (28.10%) as compared to conventional smears (16.26%), p-value < .01. The results show that conventional smears have lower non-diagnostic rates. With smear cytology alone, 114 (16.3%) of all samples were nondiagnostic. With the addition of cell block technique, 15 of these samples were reclassified as benign (n = 13), Bethesda III (n = 1) or Bethesda IV (n = 1). The rest of the non-diagnostic samples (n = 99) remained Bethesda I. Overall, the equivalent decrease in non-diagnostic rate was 2.1%.

The combined use of cell block and conventional smears did not significantly decrease nondiagnostic rates in thyroid FNAB. In general, conventional smears demonstrated superior diagnostic efficacy across all Bethesda categories, establishing it as the preferred sampling preparation method for thyroid FNAB. Cell blocks should be considered a supplementary technique, particularly in cases where ancillary methods like immunohistochemistry or molecular testing are needed.

OBJECTIVE

The aim of this study was to determine the upgrade rate in diagnosis of biopsy-proven papillary breast lesions on core needle biopsy and their respective surgical excisions, and to assess for predictive factors associated with an upgrade at St. Luke’s Medical Center – Global City.

A retrospective review of our institution’s database identified 184 papillary breast lesions diagnosed by core needle biopsy. The study population consisted of 71 samples that met the inclusion criteria. The overall upgrade and concordance rates were determined and analyzed if there was any significant association with clinical demographics, radiologic findings, and core diameter on gross examination. Continuous variables were presented as mean and median, and Shapiro-Wilk test was used to assess normality of data. Categorical variables were expressed as frequencies and percentages. Simple logistic regression analysis with Firth’s bias correction was performed to determine the variables associated with a diagnostic upgrade. P values ≤0.05 were considered statistically significant.

A total 71 patients, all female, were included in the study. The overall upgrade rate was 8.45% (95% CI: 3.16-17.49%) in comparison with the diagnosis of the initial CNB and SE alone. This translated to 6/71 samples in this study. The overall concordance was 91.55% based on clinical significance, and an individual diagnosis concordance rate of 78.87%. None of the predictive factors (i.e., age, history of breast cancer, BI-RADS score, and gross core diameter) assessed showed an association with a diagnostic upgrade.

The computed overall upgrade rate is within range of currently published literature. The concordance rates for both clinical significance and individual diagnosis were quite high, suggesting good reproducibility of histopathologic diagnosis within our institution. This was also found to be consistent with other studies. Of the predictive factors, none showed an association to a diagnostic upgrade. Despite the latter, our findings may be of value within the medical center in further exploring and expanding the data set at hand, such that it may hopefully contribute to local guidelines in managing PBLs in the future.

We propose a strategy to reduce unnecessary prostate biopsies in Chinese patients with total prostate-specific antigen (tPSA) >10 ng ml -1 and Prostate Imaging Reporting and Data System (PI-RADS) scores between 1 and 3. Clinical data derived from 517 patients of The First Affiliated Hospital of USTC (Hefei, China) from January 2020 to December 2023 who met the screening criteria for the study were retrospectively collected. Independent predictors were identified via univariate and multivariate logistic regression analysis. The diagnostic capacity of clinical variables was evaluated using the receiver operating characteristic (ROC) curves and area under the curve (AUC). A prostate biopsy strategy was developed via risk stratification. Of the 517 patients, 17/348 (4.9%) with PI-RADS 1-2 were diagnosed with clinically significant prostate cancer (csPCa), and 27/169 (16.0%) patients with PI-RADS 3 were diagnosed with csPCa. The appropriate prostate-specific antigen density (PSAD) cut-off values were 0.45 ng ml -2 for PI-RADS 1-2 patients and 0.3 ng ml -2 for PI-RADS 3 patients. The appropriate prostate volume (PV) cut-off values were 40 ml for PI-RADS 1-2 patients and 50 ml for PI-RADS 3 patients. The prostate biopsy strategy based on PSAD and PV developed in this study can reduce unnecessary prostate biopsies in patients with tPSA >10 ng ml -1 and PI-RADS 1-3. In the study, 66.5% (344/517) patients did not need to undergo prostate biopsy, at the expense of missing only 1.7% (6/344) patients with csPCa.
Humans ; Male ; Prostatic Neoplasms/diagnostic imaging* ; Prostate-Specific Antigen/blood* ; Aged ; Middle Aged ; Retrospective Studies ; Prostate/diagnostic imaging* ; Unnecessary Procedures/statistics & numerical data* ; Biopsy/statistics & numerical data* ; China ; ROC Curve

This review focuses on the diagnostic algorithm for nonobstructive azoospermia (NOA), a significant male factor contributing to infertility. NOA, characterized by the absence of sperm in the ejaculate, requires a systematic diagnostic approach to identify reversible conditions, genetic factors, and prognosis for achieving pregnancy. The diagnostic pathway involves semen analysis and a comprehensive evaluation for hormonal deficiencies, anatomical abnormalities, and genetic factors. The importance of medical history, physical examination, endocrine evaluation, imaging, and genetic testing is emphasized. This review highlights the significance of differentiating NOA from obstructive azoospermia (OA) and outlines key considerations for effective management, including surgical sperm retrieval and assisted reproductive techniques. Testicular biopsy is discussed as a definitive method to distinguish obstructive cases from nonobstructive cases, providing valuable prognostic information. Overall, a thorough and systematic diagnostic approach is essential for the effective management of men suspected with NOA, offering insights into potential treatment options and reproductive outcomes.
Humans ; Azoospermia/therapy* ; Male ; Algorithms ; Semen Analysis ; Testis/pathology* ; Sperm Retrieval ; Biopsy ; Infertility, Male/etiology*

The choice of biopsy method is critical in diagnosing prostate cancer (PCa). This retrospective cohort study compared systematic biopsy (SB) or cognitive fusion-targeted biopsy combined with SB (CB) in detecting PCa and clinically significant prostate cancer (csPCa). Data from 2572 men who underwent either SB or CB in Fudan University Shanghai Cancer Center (Shanghai, China) between January 2019 and December 2023 were analyzed. Propensity score matching (PSM) was used to balance baseline characteristics, and detection rates were compared before and after PSM. Subgroup analyses based on prostate-specific antigen (PSA) levels and Prostate Imaging-Reporting and Data System (PI-RADS) scores were performed. Primary and secondary outcomes were the detection rates of PCa and csPCa, respectively. Of 2572 men, 1778 were included in the PSM analysis. Before PSM, CB had higher detection rates for both PCa (62.9% vs 52.4%, odds ratio [OR]: 1.54, P < 0.001) and csPCa (54.9% vs 43.3%, OR: 1.60, P < 0.001) compared to SB. After PSM, CB remained superior in detecting PCa (63.1% vs 47.9%, OR: 1.86, P < 0.001) and csPCa (55.0% vs 38.2%, OR: 1.98, P < 0.001). In patients with PSA 4-12 ng ml -1 (>4 ng ml -1 and ≤12 ng ml -1 , which is also applicable to the following text), CB detected more PCa (59.8% vs 40.7%, OR: 2.17, P < 0.001) and csPCa (48.1% vs 27.7%, OR: 2.42, P < 0.001). CB also showed superior csPCa detection in those with PI-RADS 3 lesions (32.1% vs 18.0%, OR: 2.15, P = 0.038). Overall, CB significantly improves PCa and csPCa detection, especially in patients with PSA 4-12 ng ml -1 or PI-RADS 3 lesions.
Humans ; Male ; Prostatic Neoplasms/diagnosis* ; Propensity Score ; Retrospective Studies ; Middle Aged ; Aged ; Image-Guided Biopsy/methods* ; Prostate-Specific Antigen/blood* ; Prostate/diagnostic imaging*

OBJECTIVE: To assess the value of the Prostate Imaging Reporting and Data System version 2.1 (PI-RADS v2.1) score combined with PSA density (PSAD) in the diagnosis of clinically significant prostate cancer (CSPCa) in the PSA grey zone by MRI-TRUS cognitive fusion-guided transperineal targeted prostate biopsy. METHODS: This retrospective study included 327 male patients with total PSA (tPSA) levels of 4-10 μg/L undergoing MRI-TRUS cognitive fusion-guided transperineal targeted prostate biopsy in our hospital between January 2021 and December 2023. According to the pathological results, we divided the patients into a CSPCa (n = 44) and a non-CSPCa group (n = 283), collected their clinical and imaging data, and subjected them to statistical analysis. RESULTS: The age, tPSA level, PSAD and PI-RADS score were significantly higher, while the free PSA (fPSA) level, f/tPSA ratio and prostate volume remarkably lower in the CSPCa than in the non-CSPCa group (P<0.05). The areas under the curve (AUCs) of PSAD, PI-RADS score and their combination were 0.772, 0.730 and 0.801, with sensitivities of 63.63%, 70.45% and 72.73%, and specificities of 84.10%, 75.62% and 83.75%, respectively (P<0.01). With PSAD 0.2 μg/(ml·cm3) as the best cut-off value and based on the PI-RADS scores, the patients were divided into two groups for analysis. In the patients with PI-RADS scores 2 and 5, the AUCs were 0.534 and 0.643, with sensitivities of 16.67% and 63.64%, and specificities of 85.14% and 64.29%, with no statistically significant differences (P= 0.784, P= 0.228), and in those with PI-RADS scores 3 and 4, the AUCs were 0.794 and 0.843, with sensitivities of 57.14% and 80.00%, and specificities of 87.14% and 81.82%, with statistically significant differences (P= 0.009, P<0.001). CONCLUSION PI-RADS v2.1 score combined with PSAD can effectively improve the diagnostic efficiency of CSPCa in the PSA grey zone by MRI-TRUS cognitive fusion-guided transperineal targeted prostate biopsy and serve as a guide for selection of prostate biopsy.
Humans ; Male ; Prostatic Neoplasms/diagnostic imaging* ; Retrospective Studies ; Prostate-Specific Antigen ; Magnetic Resonance Imaging ; Image-Guided Biopsy ; Prostate/pathology* ; Aged ; Middle Aged