Biopsy Results Research Articles

Assessing the Correlation between Allostatic Load and False-Positive Image-Guided Breast Biopsies.

Background: Allostatic load (AL) is the accumulation of physiological dysregulation attributed to repeated activation of the stress response over a lifetime. We assessed the utility of AL as a prognostic measure for high-risk benign breast biopsy pathology results. Method: Eligible patients were women 18 years or older, with a false-positive outpatient breast biopsy between January and December 2022 at a tertiary academic health center. AL was calculated using 12 variables representing four physiological systems: cardiovascular (pulse rate, systolic and diastolic blood pressures, total cholesterol, high-density lipoprotein, and low-density lipoprotein); metabolic (body mass index, albumin, and hemoglobin A1C); renal (creatinine and estimated glomerular filtration rate); and immune (white blood cell count). Multivariable logistic regression was used to assess the association between AL before biopsy and breast biopsy outcomes controlling for patients' sociodemographics. Results: In total, 170 women were included (mean age, 54.1 ± 12.9 years): 89.4% had benign and 10.6% had high-risk pathologies (radial scar/complex sclerosing lesion, atypical ductal or lobular hyperplasia, flat epithelial atypia, intraductal papilloma, or lobular carcinoma in-situ). A total of 56.5% were White, 24.7% Asian, and 17.1% other races. A total of 32.5% identified as Hispanic. The mean breast cancer risk score using the Tyrer-Cuzick model was 11.9 ± 7.0. In multivariable analysis, with every one unit increase in AL, the probability of high-risk pathology increased by 37% (odds ratio, 1.37; 95% confidence interval, 1.03, 1.81; p = 0.03). No significant association was seen between high-risk pathology and age, ethnicity, breast cancer risk, or area deprivation index. Conclusion: Our findings support that increased AL, a biological marker of stress, is associated with high-risk pathology among patients with false-positive breast biopsy results.

A 2-year prospective evaluation of the Prostate Health Index in guiding biopsy decisions in a large cohort.

To prospectively evaluate how the Prostate Health Index (PHI) impacts on clinical decision in a real-life setting for men with a prostate-specific antigen (PSA) level between 4 and 10 ng/mL and normal digital rectal examination. Since 2016, the PHI has been available at no cost to eligible men in all Hong Kong public hospitals. All eligible patients who received PHI testing in all public Urology units (n = 16) in Hong Kong between May 2016 and August 2017 were prospectively included and followed up. All included men had a PHI test, with its result and implications explained; the subsequent follow-up plan was then decided via shared decision-making with urologists. Patients were followed up for 2 years, with outcomes including prostate biopsy rates and biopsy findings analysed in relation to the initial PHI measurements. A total of 2828 patients were followed up for 2 years. The majority (82%) had PHI results in the lower risk range (score <35). Knowing the PHI findings, 83% of the patients with elevated PSA decided not to undergo biopsy. In all, 11% and 45% opted for biopsy in the PHI score <35 and ≥35 groups, respectively. The initial detection rate of International Society of Urological Pathology (ISUP) Grade Group (GG) ≥2 cancer was higher in the PHI score ≥35 group (23%) than in the PHI score <35 group (7.9%). Amongst patients with no initial positive biopsy findings, the subsequent positive biopsy rate for ISUP GG ≥2 cancer was higher in the PHI score ≥35 group (34%) than the PHI score <35 group (13%) with a median follow-up of 2.4 years. In a real-life setting, with the PHI incorporated into the routine clinical pathway, 83% of the patients with elevated PSA level decided not to undergo prostate biopsy. The PHI pathway also improved the high-grade prostate cancer detection rate when compared to PSA-driven strategies. Higher baseline PHI predicted subsequent biopsy outcome at 2 years. The PHI can serve as a tool to individualise biopsy decisions and frequency of follow-up visits.

Predicting of Hepatic Steatosis in Living Liver Donor via CT Liver Attenuation Index (LAI) and Fibroscan Controlled Attenuation Parameter (CAP) Correlation with Biopsy Result

Abstract Background The most prevalent persistent parenchymatous liver alterations in healthy individuals are thought to be hepatic steatosis. The liver biopsy is the most crucial procedure for the identification and measurement of hepatic steatosis. By identifying the liver attenuation index (LAI) at an unenhanced CT image, hepatic steatosis can be evaluated without the risk of liver resection. Objective Using liver biopsy histological analysis as a reference standard, to examine the precision of the CT liver attenuation index (LAI) and fibroscan controlled attenuation parameter (CAP) for quantitative evaluation of macro vesicular steatosis in living related liver donors. Methods In this study comparing CT liver attenuation index &amp; fibroscan controlled attenuation parameter with liver pathology of steatosis in subject's candidate for liver living donors 50 subjects in each two study's correlation with biopsy results, conducted at Ain Shams Shams Specialized hospital and other Private hospitals over about 2 years. Results Our study reported that liver – spleen attenuation index of 9 is the cutoff value with sensitivity 100% and specificity 80% that make it a very good method to exclude donor to have steatosis ≥15%, which mean if donor had LS index &amp;lt; 9 we can safely do proceed do liver biopsy. Our study reported that CAP measurement had an AUROC OF 0.780, for detecting steatosis ≥ 15 %, with sensitivity is only 60% with specificity as CT LAI of 80%, which consider low compared to other study, that could be due to small number of donors in out study with steatosis ≥ 15 % (5 case from 50 donors) unlike the other studies. Conclusion When used to estimate the amount of liver fat in liver donors, the examined CAP and CT indices worked equally. But according to multivariate analysis, the only factor strongly linked with hepatic steatosis in alive donors was the CT L-S attenuation index. We contend that the combination of CT L-S attenuation index and CAP allows for the detection of the degree of hepatic steatosis and can be used as an option to liver biopsy, reserving liver biopsy for those with positive steatosis donors.

P-243 Effect of delayed development of embryos 7 days on embryo quality, ploidy and reproductive cycle outcomes

Abstract Study question How does delay in embryo development before Day7 affect blastocyst quality, ploidy and reproductive cycle outcomes? Summary answer Embryo quality and ploidy are statistically significantly lower in the Day7 group, no difference in implantation rate was found. What is known already In clinics that allow extended culture up to Day7, on average 5% of embryos have a 48-hour delay in development, blastulation occurs on the 7th Day (Hammond et al., 2018). Day7 blastocysts may have good morphology and be euploid, give a pregnancy and birth of a healthy baby. Back in 2013 it has been proven that embryos from patients over 35 years of age take longer to form a blastocyst (Shapiro et al., 2013). Cultivation until Day 7 is justified for couples with a poor prognosis in cycles. Study design, size, duration This was a retrospective cohort study in a private Delta Fertility Clinic of consecutive female infertility patients (n = 422) between Sept 2021 and Sept 2022. Average age of the patients was 39,7 years who underwent frozen embryo transfer (FET) of a single euploid day 5, 6 or 7 blastocyst. Then we compared the outcomes in the 5, 6 and 7 Day groups. Participants/materials, setting, methods The results of culture and subsequent biopsy of trophoectoderm with PGT-A of 2095 blastocysts (1516 were tested with PGT-A) in 482 cycles were analyzed, of these, embryos Day7 suitable for biopsy were 9.8% (149). Blastocysts were classified as good (AA/AB/BA/BB) or poor (AC/BC/CA/CB) (Gardner D.K. et al., 1999). Cultivation performed in single drops, biopsy was performed using the flicking method. Statistical analysis was performed using the Pearson’s Chi-Squared Test. Main results and the role of chance In 3.4% of cases, patients had only Day7 blastocysts. Poor quality blastocysts were predominant in D7 blastocyst group (good quality: 91.0%, 65.2%, 46.3%; poor quality: 9.0%, 34.8%, 53.7%, P &amp;lt; 0.001 for D5, D6 and D7 blastocysts; respectively). The number of euploid embryos was significantly lower in the Day 6 and Day 7 group compared to Day 5 (51.8% and 50.0% vs 64.4%, p &amp;lt; 0.001 and p &amp;lt; 0.001). We found no differences in cycle outcomes, implantation rate was 52,7%, 49,6% and 38,5% for 5, 6 and 7 Day respectively (P = 0,474). We speculate that this may be due to the small number of day 7 embryo transfers (n = 13), but we have 5 live births in our clinic after euploid Day7 embryo transfer. Limitations, reasons for caution Due to the decrease in the percentage of euploid embryos on day 7, such embryos should be transferred only after PGT-A. There is little information about the outcomes of Day 7 embryo transfers because they are the last embryos to be transferred. Wider implications of the findings Cultivation before day 7 should be introduced into routine practice as an option for patients over 35 years of age or with a known poor prognosis. Having previously assessed the laboratory’s capabilities and financial costs. Trial registration number not applicable

P-543 Multicenter concordance study of embryo cell-free DNA and trophectoderm biopsies: impact on clinical outcomes

Abstract Study question Are reproductive outcomes of transfers from euploid day-6 biopsied blastocysts different depending on results of the corresponding embryo cell-free DNA (cfDNA) in the culture medium? Summary answer Transfers with euploid trophectoderm biopsies but aneuploid cfDNA showed higher miscarriage rates than those with euploid trophectoderm biopsies and cfDNA, although without reaching statistical significance. What is known already During development, embryos release cfDNA. There is, therefore, genetic material in the droplet of culture medium in which they develop. When analyzing, for the same embryo, the spent blastocyst medium containing cfDNA, trophectoderm (TE) and inner cell mass biopsies or the whole blastocyst, high concordance rates have been observed. This high representativeness shown by cfDNA on the chromosomal content of the blastocysts opens a new era of possibilities for non-invasive preimplantation genetic testing for aneuploidy (niPGT-A) as its analysis avoids the need of an invasive trophectoderm biopsy for aneuploidy detection. Study design, size, duration Prospective, observational, multicenter study conducted in 10 assisted reproductive centers after approval by each local institutional review board. From April 2018 to December 2022, 2539 embryos from 716 patients included in PGT-A cycles were cultured following a niPGT-A culture protocol. Blastocysts underwent TE biopsy and media collection that were subsequently analyzed and compared. 441 frozen single embryo transfers (SET) from euploid embryos, based on the TE biopsy result, were performed and their clinical data registered. Participants/materials, setting, methods Embryos were cultured in routine conditions up to day 4, then washed and transferred to a new 10μl droplet. On day 6, media were collected and frozen at -20 °C; and blastocyst biopsy and vitrification were performed. Samples were analyzed by NGS (Ion ReproSeq PGS kit, ThermoFisher Scientific) and the results processed with customized algorithms for TE/cfDNA. SET were performed based on TE biopsy results, with blinded cfDNA results at the moment of transfer. Main results and the role of chance Clinical outcomes were compared according to whether the TE and cfDNA result was euploid (eu-eu) or with euploid TE and aneuploid cfDNA (eu-aneu). Transfers where cfDNA analysis had provided non-informative results were excluded. The eu-eu group included 288 transfers (mean female age = 35.3 ± 4.9 years), with an ongoing pregnancy rate (OPR) of 44.4% and a miscarriage rate (MR) of 14.7%. Whereas the eu-aneu group included 95 transfers (mean female age = 34.4 ± 5.2 years), with an OPR of 43.2% and a MR of 25.5%. The comparisons of OPR and MR between both groups did not reach statistical significance (Chi-square test), but MR showed a two-fold increase in transfers with aneuploid cfDNA. A sub-analysis was performed, while only considering transfers from patients without endometrial factor history. Eu-eu and eu-aneu groups included 231 and 73 transfers, respectively. The differences in OPR (49.4% vs 43.8%) and MR (14.3% vs 25.6%) were slightly higher between both groups but did not reach statistical significance (Chi-square test). Limitations, reasons for caution To better understand the trends observed, especially on the miscarriage rate, it would be necessary to collect clinical outcomes from more SET. This study could not determine the benefit of embryo selection based only in cfDNA, since SET was performed according to TE biopsy results. Wider implications of the findings The analysis of embryo cfDNA could provide useful information to help select the best embryo for transfer and, therefore, decrease miscarriage rates and increase the chances of having a healthy newborn at home. Trial registration number NCT03520933

O-004 Oocyte image assessment by novel artificial intelligence (AI) model predicts blastocyst PGT-A results, outperforming age as a predictor

Abstract Study question Can a non-invasive, image analysis artificial intelligence (AI) model be built to predict the likelihood that a mature oocyte will develop into a euploid blastocyst? Summary answer A novel AI model was developed to assess images of mature oocytes, predicting chromosomal ploidy status of the developed blastocyst with an AUC of 0.71. What is known already The genetic status of blastocysts greatly impacts implantation and cycle success; therefore, PGT-A has become widely adopted as routine to aid in blastocyst selection for transfer and aims to decrease the time to pregnancy. Most chromosomal abnormalities arising in a blastocyst embryo are of maternal meiotic origin–indicating that the oocyte may have valuable information to be harnessed at the earliest stage in the process. Gaining insights into the potential genetic status of a blastocyst at the oocyte stage in a non-invasive manner would provide critical information to the overall fertility cycle. Study design, size, duration This study included a labeled dataset—9,260 images of mature denuded oocytes, immediately post-ICSI—from 3 clinics (Canada, United States (US), Spain) with euploid or aneuploid trophectoderm biopsy results (excluding mosaic/inconclusive embryos, n = 980). The labeled dataset was split into training (60%), validation (20%), and test (20%). An unlabeled dataset was also included—34,709 oocyte images (2 clinics; Canada, US)—and utilized in training. An external dataset (n = 473) from a separate US clinic was assessed for model generalization. Participants/materials, setting, methods Fully-supervised and semi-supervised machine learning models were experimented to predict blastocyst PGT-A from oocyte images. The labeled data were utilized in both methods. The semi-supervised method integrates unlabeled data using the well-known Mixmatch algorithm—learning important features from augmented images (with pseudo labels) that were then utilized in the supervised phase to predict outcomes. Age was incorporated into the models, therefore, a model only using age to predict ploidy was developed to act as a comparison. Main results and the role of chance Following various experiments, the fully-supervised model displayed an AUC 0.61, sensitivity 0.41, specificity 0.76, and accuracy 0.62 on the test set. The semi-supervised model displayed a performance of AUC 0.71, sensitivity 0.63, specificity 0.67, and accuracy 0.65–notably higher AUC and balanced performance on the positive/negative classes. The semi-supervised method benefits from both labeled and augmented unlabeled data for enhanced learning efficacy. The model utilizing age only to predict ploidy was extremely imbalanced in performance on the test set with AUC 0.63, sensitivity 1, specificity 0, and accuracy 0.48, confirming the importance of image features. Performance of the semi-supervised model was assessed by clinic. On Clinic 1 (n = 364; 40% euploid) it displayed AUC 0.61, sensitivity 0.60, specificity 0.56, and accuracy 0.58; on Clinic 2 (n = 675; 52% euploid) it displayed AUC 0.64, sensitivity 0.56, specificity 0.65, and accuracy of 0.60; on Clinic 3 (n = 466; 50% euploid) it displayed significantly better performance with AUC 0.85, sensitivity 0.76, specificity 0.79, and accuracy 0.77–warranting further investigation into model generalizability. On the external dataset (n = 473, 58% euploid), the semi-supervised model displayed improved performance (AUC 0.62, sensitivity 0.61, specificity 0.61, accuracy 0.60) in comparison to the age only model (AUC 0.59, sensitivity 1, specificity 0, accuracy 0.58). Limitations, reasons for caution This dataset includes oocytes that developed into blastocysts and underwent PGT-A. Datasets including oocytes that did not reach the blastocyst stage must also be assessed to validate the model’s clinical utility. Despite utilizing diverse data, advancing the generalizability of the model requires additional investigations to ensure balanced performance across clinics. Wider implications of the findings Utilizing images of mature oocytes, an AI model predicts the ploidy status of resulting blastocysts, providing a powerful tool for assessing oocyte quality and genetic integrity. These preliminary findings are promising for those undergoing oocyte cryopreservation by striving to elucidate genetic potential at the earliest phase of the IVF process. Trial registration number Not applicable.

Clinical, imaging, and pathological characteristics of 35 cases of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome

Objective: To summarize the clinical, imaging, and pathological characteristics of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) to improve the diagnosis of this rare disease. Methods: A retrospective case series was conducted to collect the clinical data and results of genetic testing, muscle biopsy, and imaging studies including computed tomography (CT), magnetic resonance imaging (MRI), and magnetic resonance spectroscopy (MRS) of 35 patients with MELAS admitted to the Nanjing Drum Tower Hospital from 2012 to 2021. Descriptive statistical analysis including mean, standard deviation, and frequency percentage were carried out. Results: The average age of onset of the patients was 30.2±2.3 years; the prevalence of family history was 20%. The two main initial symptoms were limb weakness and convulsions. The clinical manifestations of the neuromuscular system were proximal muscle weakness and exercise intolerance. The endocrine system is the most affected outside the neuromuscular system, with diabetes being the most common condition. Among the five patients who underwent brain CT, four showed hypodense lesions and two had calcified lesions. Brain MRI in 26 patients showed that the lesions more often affected the parietal lobe, basal ganglia, temporal lobe, occipital lobe, and frontal lobe than the infratentorial areas. Twelve of these individuals exhibited different levels of brain atrophy. Among the 10 patients who underwent 1H-MRS, nine showed a decrease in N-acetylaspartate (NAA) levels, eight exhibited abnormal lactate elevation (Lac peaks), whereas six had both reduced NAA levels and the presence of Lac peaks. Thirty-one patients underwent genetic testing; among them, 25 were found to have the mt.3243A>G mutation, while the remaining six exhibited rare gene alterations. Muscle biopsies were performed in 21 patients, and 15 showed abnormal mitochondrial proliferation manifested by ragged red fibers and defective oxidative phosphorylation manifested by cytochrome C oxidase (COX) enzyme-deficient muscle fibers. Conclusion: The clinical manifestations of MELAS syndrome are variable and complex, and early atypical symptoms could be missed or misdiagnosed. A detailed clinical history, imaging MRS analysis, muscle biopsy, and genetic testing are necessary to confirm the accurate diagnosis of MELAS.

EXPLORING THE CLINICAL SPECTRUM AND INDIVIDUALIZED DRUG THERAPY IN PEMPHIGUS VULGAR IS: A CASE SERIES

Pemphigus Vulgaris (PV) is a rare, chronic, life-threatening immunopathogenic disease that is characterized by flaccid, easily ruptured intraepithelial bullae, mostly found on the skin and mucous membranes. Attempting to keep the treatment plan of this potentially deadly disorder in primary focus, we have observed five patients with Pemphigus vulgaris. All patients have been presented with oral lesions or ulcers resulting in difficulty in swallowing. Patient one had a family history of the disease, while the other patients did not present any family history. All five patients had diverse ways of dealing with the disease before getting hospitalized. Microcytic anaemia and hypoalbuminemia have been found in all of them. Patients 1 and 3 had leucocytosis, while patient three had platelets in clumps with Hypercobalaminemia and the presence of ketone bodies in urine analysis. The Desmoglein I and Desmoglein III Antibody along with Punch biopsy results, confirmed the diagnosis. All patients were given systemic corticosteroids on hospitalization, but the case series observed variations in the dosages emphasizing individualized drug therapy. Some developed psychological impairment, some had generalized headaches or cardiac impairment, while ophthalmic involvement was seen in the other patients. Healthcare providers should do close monitoring while providing individualized drug therapy to prevent any systemic involvement and further complications.

EUS-FNA Biopsy for Pancreatic Mass.

To assess both solid and cystic pancreatic lesions using endoscopic ultrasound (EUS), and the effect of endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) in patient management. Descriptive study. Place and Duration of the Study: Department of Gastroenterology, Division of Internal Diseases, Sivas Cumhuriyet University Hospital, Sivas, Turkiye, from January 2018 to 2022. Patients with pancreatic mass, who underwent EUS-FNA were inducted in the study. EUS-FNA was performed using a 22-gauge needle via both transgastric and transduodenal routes. The size of the pancreatic lesion, its location, and whether there was SMA or CA invasion were evaluated on CT and EUS scans. Biopsy results of 64 patients who received EUS-FNA due to pancreatic lesions were considered. The results were divided into malignancy or benign pathology. A total of 64 cases were compared. Crosstable Chi-square analysis showed a statistically significant difference between CT and EUS (p <0.001). EUS-FNA results revealed that out of the 64 patients with pancreatic mass detected in EUS, 46 had adenocarcinoma, 7 were negative for malignancy, 4 had intraductal papillary mucinous neoplasia (IPMN), 3 had neuroendocrine tumour (NET), 2 had lymphoma, and 2 had solid pseudopapillary neoplasia (SPN). In the 2-year follow-up of the seven patients who were negative for malignancy in EUS-FNA, there were no clinical, laboratory or imaging findings indicating pancreatic malignancy or distant metastasis. Tissue sampling through EUS-FNA has minimal side effects and remains useful in managing preoperative patients with resectable or suspicious pancreatic masses. Pancreatic cancer, Abdominal CT, Endoscopic ultrasound (EUS), Ultrasound-guided fine-needle aspiration (EUS-FNA).

Peningkatan Leukosit, Neutrofil, dan Prokalsitonin Persisten Tanpa Bukti Infeksi pada Kanker Stadium Akhir: Sebuah Laporan Kasus

Elevation of leukocyte, neutrophil, and procalcitonin (PCT) has been known as a marker of bacterial infection independent of the underlying disease. This article will describe a case of end-stage cancer with persistent elevation of leukocyte, neutrophil, and procalcitonin with no evidence of infection. A 45-year-old female presented with abdominal distension for three months prior to hospital admission. The patient was suspected to have breast cancer with hepatic metastasis based on diagnostic tests. Throughout treatment, the patient experienced persistent elevation of leukocytes, neutrophils, and PCT despite no signs or symptoms of infection from history, physical examination, and diagnostic tests. The patient received antibiotic therapy including ciprofloxacin escalated to meropenem, but leukocytes, neutrophils, and PCT did not decrease. A breast tumor biopsy was performed. The result of biopsy revealed after the patient had passed away. The histopathology was invasive carcinoma, No Special Type (NST) of right breast. The immunohistochemistry showed luminal B type, HER2 positive. The persistent increase in leukocytes and neutrophils in this patient indicates poor prognosis, disease progression, metastasis, and pro-cancer activity of neutrophils. The elevated PCT in this patient may be due to systemic inflammation and/or aberrant secretion from the cancer itself.

The characteristics of patients undergoing endobronchial ultrasonography-guided transbronchial needle aspiration (EBUS-TBNA): single-center experience

Aims: We aimed to present the features of our Endobronchial ultrasonography-guided transbronchial needle aspiration (EBUS-TBNA) cases, the lymph nodes that were biopsied, their pathological diagnoses, and the complications that developed due to the procedure. Methods: All cases who underwent EBUS-TBNA between January 2016 and December 2023 in the chest diseases clinic of a training and research hospital were retrospectively screened. The patients who underwent the procedure (n=274) were included in the study. Cases in which fine needle aspiration biopsy was performed with EBUS-TBNA and the material obtained was not diagnostic (n=3) or in which the pathology result could not be obtained in the files (n=9) were excluded from the study. The design of our study was cross-sectional and planned as a descriptive study. Results: Of the 262 patients included in the analysis, 66.4% (n=174) were male and the average age of the population was 60.8±11.4 years. When EBUS-TBNA indications were evaluated, the procedure was performed for diagnostic purposes in 96.9% (n=254) and for re-evaluation after chemotherapy in 3.1%. EBUS-TBNA procedure was performed in 16.8% (n=44) patients due to mediastinal mass and in 83.2% (n=218) patients due to mediastinal lymphadenopathy. The most common stations where biopsy is performed with the EBUS-TBNA process are the subcarinal (7) and lower right paratracheal (4R) lymph node stations. When the biopsy results were evaluated, malignancy was reported in 54.6% (n=143) of the patients. The complications related to the EBUS-TBNA procedure were generally mild and trancient . Conclusion: EBUS-TBNA is a minimally invasive method used in the diagnosis and staging of lung cancer, the evaluation of non-endobronchial lesions, the diagnosis of benign diseases of the mediastinum, and the diagnosis of mediastinal metastases of extrathoracic malignancies. In experienced centers like our clinic, the diagnostic value of the procedure is high and the complication rates are very low.

The predictive value of serum inflammatory markers for the severity of cervical lesions

ObjectiveExploring the predictive value of NLR, PLR, MLR, and SII for the severity of cervical cancer screening abnormalities in patients.MethodsA retrospective analysis was conducted on the data of 324 patients suspected of cervical lesions due to abnormal TCT and/or HPV in our hospital from January 2023 to December 2023, who underwent colposcopy. The pathological results of colposcopic biopsy confirmed that there were 140 cases of chronic cervicitis, which classified as the group without cervical lesions. The cervical lesion group included 184 cases, including 91 cases of LSIL, 71 cases of HSIL, and 22 cases of cervical cancer. Compared the differences in preoperative peripheral blood NLR, PLR, MLR, and SII among different groups of patients, and evaluated their predictive value for the severity of cervical lesions using Receiver Operating Characteristic (ROC) curves.ResultsThe levels of NLR, PLR, and SII in the group without cervical lesions were lower than those in the group with cervical lesions (p < 0.05), and there was no statistically significant difference in MLR (p > 0.05). The comparison of NLR among LSIL, HSIL, and cervical cancer groups showed statistically significant differences (p < 0.05), while PLR, MLR, and SII showed no statistically significant differences (p > 0.05). The AUC of peripheral blood NLR, PLR, and SII for predicting cervical lesions were 0.569, 0.582, and 0.572, respectively. The optimal cutoff values were 2.3,176.48, and 603.56. The sensitivity and specificity were 38.6% and 73.6%, 28.8% and 85.7%, 37.5% and 76.4%, respectively. At the same time, the joint testing of the three had the highest efficiency, with sensitivity of 69% and specificity of 45%.ConclusionAlthough the peripheral blood NLR, PLR, and SII of the cervical lesions patients were higher than those without cervical lesions in cervical cancer screening abnormal patients, the predictive ROC curve discrimination was low. Therefore, it is not recommended to use preoperative peripheral blood inflammatory markers as markers for cervical cancer screening abnormal patient diversion.

Clinical evaluation of an artificial intelligence-assisted cytological system among screening strategies for a cervical cancer high-risk population

BackgroundPrimary cervical cancer screening and treating precancerous lesions are effective ways to prevent cervical cancer. However, the coverage rates of human papillomavirus (HPV) vaccines and routine screening are low in most developing countries and even some developed countries. This study aimed to explore the benefit of an artificial intelligence-assisted cytology (AI) system in a screening program for a cervical cancer high-risk population in China.MethodsA total of 1231 liquid-based cytology (LBC) slides from women who underwent colposcopy at the Chinese PLA General Hospital from 2018 to 2020 were collected. All women had received a histological diagnosis based on the results of colposcopy and biopsy. The sensitivity (Se), specificity (Sp), positive predictive value (PPV), negative predictive value (NPV), false-positive rate (FPR), false-negative rate (FNR), overall accuracy (OA), positive likelihood ratio (PLR), negative likelihood ratio (NLR) and Youden index (YI) of the AI, LBC, HPV, LBC + HPV, AI + LBC, AI + HPV and HPV Seq LBC screening strategies at low-grade squamous intraepithelial lesion (LSIL) and high-grade squamous intraepithelial lesion (HSIL) thresholds were calculated to assess their effectiveness. Receiver operating characteristic (ROC) curve analysis was conducted to assess the diagnostic values of the different screening strategies.ResultsThe Se and Sp of the primary AI-alone strategy at the LSIL and HSIL thresholds were superior to those of the LBC + HPV cotesting strategy. Among the screening strategies, the YIs of the AI strategy at the LSIL + threshold and HSIL + threshold were the highest. At the HSIL + threshold, the AI strategy achieved the best result, with an AUC value of 0.621 (95% CI, 0.587–0.654), whereas HPV testing achieved the worst result, with an AUC value of 0.521 (95% CI, 0.484–0.559). Similarly, at the LSIL + threshold, the LBC-based strategy achieved the best result, with an AUC of 0.637 (95% CI, 0.606–0.668), whereas HPV testing achieved the worst result, with an AUC of 0.524 (95% CI, 0.491–0.557). Moreover, the AUCs of the AI and LBC strategies at this threshold were similar (0.631 and 0.637, respectively).ConclusionsThese results confirmed that AI-only screening was the most authoritative method for diagnosing HSILs and LSILs, improving the accuracy of colposcopy diagnosis, and was more beneficial for patients than traditional LBC + HPV cotesting.

The Effect of Random Biopsy and Endo-Cervical Curettage in Diagnosis of Precancerous Cervical Lesions in Women With Normal Colposcopy.

This study aimed to evaluate the effect of random biopsy and endo-cervical curettage (ECC), alone and together, in the diagnosis of high-grade cervical lesions in women with normal colposcopy. This cross-sectional study was conducted on 356 women who underwent colposcopy examination in the gynecology-oncology clinic of Roointan-Arash Women's Hospital, affiliated with Tehran University of Medical Sciences. All eligible women underwent colposcopy. In colposcopy examination, up to four biopsy samples were randomly taken for each quartile of the cervix and ECC was performed. Finally, the rate of intraepithelial neoplasia (CIN) and the relation between random biopsy and ECC and CIN diagnosis was determined. In total, 27 (7.6%) low-grade squamous intraepithelial lesions (LSIL) and 19 (5.3%) high-grade squamous intraepithelial lesions (HSIL) were detected in cases that underwent random biopsy. There was a significant association between the abnormal random biopsy results and having multiple sexual partners (p=0.001), cigarette (p=0.041), and hookah (p=0.033) smoking. Furthermore, 31 (8.7%) LSIL and 42 (11.8%) HSIL were reported in women who underwent ECC. There was a significant relation between the abnormal results of ECC and hookah consumption (p=0.008) and human papillomavirus (HPV) infection (p=0.011). The concordance (p=0.001) between random biopsy and ECC result was 71.2% and only in 28.8% of the cases one of the methods was normal and the other was abnormal. The present study showed that the simultaneous use of ECC and random biopsy in women with normal colposcopy increases the detection rate of precancerous lesions by up to 28.8%.

Exostosin-1/exostosin-2 expression and favorable kidney outcomes in lupus nephritis: a retrospective cohort study.

The heterodimer exostosin-1/exostosin-2 (EXO-1/2) is a novel antigen observed in membranous nephropathy associated with systemic lupus erythematosus. This study aimed to evaluate the association between EXO-1/2 positivity in kidney biopsy and kidney outcomes. The kidney biopsy tissue from 50 class 5 lupus nephritis (LN) and 55 mixed class 3/4 + 5 LN patients was stained for EXO-1/2. Baseline clinical and histological characteristics were compared between EXO-1/2 positive and EXO-1/2 negative patients. Time-to-event analyses were performed to compare rates of response to therapy, kidney flares, and progression to a 40% decline of the glomerular filtration rate (eGFR), doubling of serum creatinine, and kidney failure. Fourteen out of 50 (28%) of class 5 and 5 out of 55 (9%) of mixed class 3/4 + 5 LN stained positive for EXO-1/2. Patients with class 5 LN and EXO-1/2 positive stain were younger, with better kidney function at presentation, and lower scarring in the kidney biopsy analysis. Over a median follow-up of 100months, patients with positive EXO-1/2 staining had significantly lower rates of progression in the full cohort. When analyzed separately in class 5 and mixed class LN subgroups, there were significantly lower rates of progression to a 40% decline of the eGFR and non-statistically significant trends for doubling of serum creatinine and kidney failure. EXO-1/2 is a novel antigen detected in class 5 LN and associated with a good prognosis of kidney function. The incorporation of EXO-1/2 staining in clinical practice can potentially modify the management of LN due to its prognostic implications. Key Points • Exostosin-1/exostosin-2 antigen has been found in cases of membranous nephropathy associated with autoimmune diseases such as systemic lupus erythematosus. • Exostosin-1/exostosin-2 staining in the kidney biopsy of class 5 or mixed class 3/4 + 5 lupus nephritis is associated with a good long-term prognosis of kidney function. • The incorporation of exostosin-1/exostosin-2 staining into clinical practice can potentially modify management due to its prognostic implications.

Novel Mutation in the Moesin (MSN) Gene Leads to Immunodeficiency with Epstein-Barr Virus (EBV) Infection and Dermatomyositis-Like Symptoms.

Moesin (MSN) deficiency is a recently reported combined immunodeficiency, and few cases have been reported to date. We describe a Chinese patient with a novel mutation causing MSN deficiency and a novel phenotype. Clinical and immunological data were collected. Whole-exome sequencing was performed to identify gene mutations. MSN protein expression and T cell proliferation and activation were determined by flow cytometry. Cell migration was confirmed with a Transwell assay. Autoantibody levels were analyzed using antigen microarrays. The patient was a 10-year-old boy who presented with recurrent fever, oral ulcers and dermatomyositis-like symptoms, such as periorbital edema, facial swelling, elevated creatine kinase levels, and abnormal electromyography and muscle biopsy results. Epstein-Barr virus (EBV) DNA was detected in the serum, cells and tissues of this patient. He further developed nasal-type NK/T-cell lymphoma. A novel hemizygous mutation (c.68A > G, p.N23S) in the MSN gene was found. The immunological phenotype of this patient included persistent decreases in T and B lymphocyte counts but normal immunoglobulin IgG levels. The patient had attenuated MSN protein expression and impaired T-cell proliferation and migration. The proportions of Tfh cells and CD21low B cells in the patient were higher than those in the controls. Moreover, 82 IgG and 102 IgM autoantibodies were more abundant in the patient than in the healthy controls. The novel mutation N23S is pathogenic and leads to a severe clinical phenotype. EBV infection, tumor, and dermatomyositis-like autoimmune symptoms may be associated with MSN deficiency, further expanding the understanding of the disease.

The Role of Endometrial Sampling before Hysterectomy in Premenopausal Women with Abnormal Uterine Bleeding.

Background/Objectives: An endometrial sampling is recommended for patients experiencing abnormal uterine bleeding above the age of 40 or 45. Valid risk prediction models are needed to accurately assess the risk of endometrial cancer and avoid an unnecessary endometrial biopsy in premenopausal women. We aimed to assess the necessity and usefulness of preoperative endometrial sampling by evaluating premenopausal women who underwent hysterectomy for abnormal uterine bleeding after preoperative endometrial sampling at our clinic. Methods: A retrospective analysis was conducted on 339 patients who underwent preoperative endometrial sampling and subsequently underwent hysterectomy due to abnormal uterine bleeding. Detailed gynecologic examinations, patient histories, and reports of endometrial sampling and hysterectomy were recorded. Cohen's Kappa (κ) statistic was utilized to evaluate the concordance between histopathological results from an endometrial biopsy and hysterectomy. Results: The mean age of the cohort was 47 ± 4 years. Endometrial biopsies predominantly revealed benign findings, with 137 (40.4%) cases showing proliferative endometrium and 2 (0.6%) cases showing endometrial cancer. Following hysterectomy, final pathology indicated proliferative endometrium in 208 (61.4%) cases, with 7 (2.1%) cases showing endometrioid cancer. There was a statistically significant but low level of concordance between histopathological reports of endometrial biopsy and hysterectomy results (Kappa = 0.108; p < 0.001). Significant differences were observed only in the body mass index of patients based on hysterectomy results (p = 0.004). When demographic characteristics were compared with cancer incidence, smoking status and preoperative endometrial biopsy findings showed statistically significant differences (p = 0.042 and p = 0.010, respectively). Conclusions: The concordance between the pathological findings of a preoperative endometrial biopsy and hysterectomy is low. Body mass index is an important differentiating factor between benign histopathologic findings of endometrium and endometrial neoplasia. Moreover, adenomyosis was found to be associated with endometrial cancer cases. The current approach to premenopausal women with abnormal uterine bleeding, which includes a routine endometrial biopsy, warrants re-evaluation by international societies and experts.

Application of microwave ablation assisted degradation therapy in surgical treatment of intramedullary chondrosarcoma of extremities

AimClinical diagnosis and surgical treatment of chondrosarcoma (CS) are continuously improving. The purpose of our study is to evaluate the effectiveness of microwave ablation (MWA) assisted degradation therapy in the surgical treatment of intramedullary chondrosarcoma of the extremities, to provide a new reference and research basis for the surgical treatment of CS.MethodsWe recruited 36 patients with intramedullary CS who underwent MWA assisted extended curettage. Preoperative patient demographics and clinical data were recorded. Surgery was independently assisted by a medical team. Patients were followed up strictly and evaluated for oncological prognosis, radiological results, limb joint function, pain, and complications.ResultsWe included 15 men and 21 women (mean age: 43.5 ± 10.1). The average length of the lesion was 8.1 ± 2.5 cm. Based on preoperative radiographic, clinical manifestations, and pathological results of puncture biopsy, 28 patients were preliminarily diagnosed with CS-grade I and eight patients with CS-grade II. No recurrence or metastasis occurred in the postoperative follow-up. The average Musculoskeletal Tumor Society score was 28.8 ± 1.0, significantly better than presurgery. Secondary shoulder periarthritis and abduction dysfunction occurred in early postoperative stage CS of the proximal humerus in some, but returned to normal after rehabilitation exercise. Secondary bursitis occurred at the knee joint in some due to the internal fixation device used in treatment; however, secondary osteoarthritis and avascular necrosis of the femoral head were not observed. Overall, oncological and functional prognoses were satisfactory.ConclusionsThe application of MWA assisted degradation therapy in intramedullary CS can achieve satisfactory oncology and functional prognosis, providing a new option for the limited treatment of CS.

Implementation of an ISO 15189 accredited next generation sequencing service for cell-free total nucleic acid (cfTNA) analysis to facilitate driver mutation reporting in blood: the experience of a clinical diagnostic laboratory

AimsNext generation sequencing (NGS) on tumour tissue is integral to the delivery of personalised medicine and targeted therapy. NGS on liquid biopsy, a much less invasive technology, is an emerging...

Impact of quantitative CT texture analysis on the outcome of CT-guided bone biopsy

Texture analysis can provide new imaging-based biomarkers. Texture analysis derived from computed tomography (CT) might be able to better characterize patients undergoing CT-guided percutaneous bone biopsy. The present study evaluated this and correlated texture features with bioptic outcome in patients undergoing CT-guided bone biopsy. Overall, 123 patients (89 female patients, 72.4 %) were included into the present study. All patients underwent CT-guided percutaneous bone biopsy with an 11 Gauge coaxial needle. Clinical parameters and quantitative imaging features were investigated. Random forest classifier was used to predict a positive biopsy result. Overall, 69 patients had osteolytic metastasis (56.1 %) and 54 had osteoblastic metastasis (43.9 %). The overall positive biopsy rate was 72 %. The developed radiomics model demonstrated a prediction accuracy of a positive biopsy result with an AUC of 0.75 [95 %CI 0.65 – 0.85]. In a subgroup of breast cancer patients, the model achieved an AUC of 0.85 [95 %CI 0.73 – 0.96]. In the subgroup of non-breast cancer patients, the signature achieved an AUC of 0.80 [95 %CI 0.60 – 0.99]. Quantitative CT imaging findings comprised of conventional and texture features can aid to predict the bioptic result of CT-guided bone biopsies. The developed radiomics signature aids in clinical decision-making, and could identify patients at risk for a negative biopsy.