Diagnosis Research Articles

Sertoli-Leydig Cell Tumour in a Patient with Ambiguous Genitalia and Congenital Adrenal Hyperplasia

Background: Hyperandrogenism, characterized by elevated levels of male hormones such as testosterone, presents various clinical manifestations including secondary amenorrhea, hirsutism, and clitoromegaly. While often associated with polycystic ovarian syndrome, other differentials such as Sertoli-Leydig cell tumors and Congenital Adrenal Hyperplasia (CAH) are critical to consider. These conditions can manifest at different life stages and are seldom seen together. Objective: This case study aims to explore the rare co-presentation of CAH and a Sertoli-Leydig cell tumor in a patient presenting with secondary amenorrhea and ambiguous genitalia, and to discuss the diagnostic challenges and management strategies involved. Methods: A 16-year-old female presented with irregular menstrual cycles and secondary amenorrhea, alongside symptoms of hyperandrogenism such as voice deepening and hirsutism. Diagnostic procedures included physical examinations, ultrasound imaging, and hormone level assessments. A detailed ultrasound revealed a large right-sided ovarian mass, and biopsies confirmed a Sertoli-Leydig cell tumor. Surgical intervention involved the excision of the mass, with subsequent histopathological examination. The patient underwent three cycles of chemotherapy and was scheduled for reconstructive surgery. Results: Ultrasound dimensions of the ovarian mass were 7.2 x 13.4 x 16 cm, with the post-surgical tumor measuring 18 x 17 cm. Laboratory findings included testosterone levels above 200 ng/ml, and elevated alpha-fetoprotein levels. The histopathological report confirmed a poorly differentiated Sertoli-Leydig cell tumor (FIGO stage 1a). Post-treatment follow-up showed a marked reduction in androgen levels and stabilization of the patient's menstrual cycle. Conclusion: The coexistence of CAH and a Sertoli-Leydig cell tumor presents unique diagnostic and therapeutic challenges. This case emphasizes the importance of a thorough evaluation and a multidisciplinary approach in the management of complex hyperandrogenic states to achieve optimal clinical outcomes.

Absorbed dose, effective dose and lifetime attributable risk of breast and thyroid cancers in coronary CT angiography: A comparison between 64 and 128 slice CT scanners

The attentive consideration of absorbed dose impact on the breast, a radiosensitive organ, remains pivotal in coronary computed tomography angiography (CCTA). Additionally, the thyroid is subjected to scatter radiation during this diagnostic procedure. The primary objective of this study was to comprehensively investigate and quantify the absorbed dose, effective dose, and lifetime attributable risks (LARs) associated with breast and thyroid cancers in the context of CCTA. This investigation enrolled a cohort of 180 patients (90 men and 90 women) who underwent CCTA utilizing three distinct CT scanners: the SOMATOM Definition AS 128 slice (Siemens 128), the Lightspeed VCT 64 Slice (GE 64), and the Brilliance 64 Slice (Philips 64). The precise quantification of absorbed doses to the breast and thyroid was achieved through the utilization of a thermoluminescence dosimeter (TLD). LAR for breast and thyroid cancers was evaluated in accordance with the BEIR VII report. Kruskal–Wallis test was employed to compare the means of absorbed doses and LARs. The average absorbed doses to the breast during CCTA with Siemens 128, GE 64, and Philips 64 scanners were 116.32±39.02, 82.88±18.33, and 84.11±15.18 mGy, respectively (P<0.05). Correspondingly, the average LAR for breast cancer was found to be 84, 68, and 52 cases per 100,000 persons, respectively. Notably, a significant discrepancy in breast cancer LARs was observed among different age groups (P<0.05). Regarding thyroid doses with Siemens 128, GE 64, and Philips 64 scanners, average values were 11.82±7.51, 12.20±10.87, and 14.49±5.43 mGy, respectively (P >0.05). Additionally, the average LAR for thyroid cancer was determined as 0.32, 0.56, and 0.22 cases per 100,000 persons, respectively. Across all age groups, the LAR for thyroid cancer exhibited higher values among women compared to men. However, these differences did not achieve statistical significance (P>0.05), indicating a need for further investigation. The findings prominently indicated high absorbed doses to the breast in CCTA using protocols investigated in this study (with an average of 93.7±30.26 mGy). Particularly, the LAR for breast cancer was higher among younger women, specifically those aged between 20 and 40 years (249 cases per 100,000). These results underscore the necessity for further justification and optimization of CCTA protocols.

The Prevalence of Prostate Cancer in Organ Donors With Increased Prostate-Specific Antigen

Elevated PSA levels were found in 139 kidney donors out of a total of 472 donors from our Transplant Centre tested between 2009 and 2022, representing 29,4%. We analyzed these kidney donors with elevated prostate specific antigen (PSA) levels, at mean age 47,3 years. PSA values ranged from 2.8 to 160.4 ng/ml, mean 13,9ng/ml), proper range <2.5 ng/ml. Prostate hist-pat examination was performed in 38/139 - 27% donors. 14 cases of prostate cancer (Pca) were found, Gleason 3+3 in 8 cases, 3+4 in four cases (one donor disqualification), one case Gleason 4+3 (donor disqualification), one case Gleason 4+5 (donor disqualification). There were 33 patients who met the criteria, age ≥50 years and PSA level > 10 mg/mL; of these, prostate hist-pat was performed in 24 cases, Pca was found in 10/42% cases. There were no difference between donors ≥ 50 years old, PSA>10 ng/ml with and without pathomorphological diagnosis of Pca in respect of age (mean 60,4 vs. 60,6 years), creatinine clearance according to the Cockroft-Gaulta formula (mean 101,6 vs. 94,8 ml/min) and PSA levels (mean 34,1 vs. 29,3 ng/ml). Among other donors with Pca three were <50 years with PSA >10 ng/ml and one was ≥ 50 years and PSA< 8 ng/ml. Kidneys from donors with prostate cancer were transplanted into 19 recipients, 10 men, nine women, follow-up time 1-10 years. There was no case of prostate cancer transmission. One of the recipients died of neoplasm – breast cancer. ConclusionsDonors ≥ 50 years old, PSA>10 ng/ml have higher risk of Pca. Accepting donors with Pca (Gleason 3+3, and 3+4) possesses minimal risk of transmission. All donors ≥ 50 years and also younger with increased PSA require further diagnostic procedure (e.g. DRE, USG, eventually histological examination).

Reconstructive Surgery of the Laryngotracheal Junction.

The laryngotracheal junction is an anatomical region with special pathophysiological features. This review presents clinical pictures and malformations that manifest pre-dilectively at this localisation in children and adolescents as well as in adults. The diagnostic procedure is discussed. The possibilities of surgical reconstruction are presented depending on the pathology and age of the patient.

AChR Antibody-Positive Myasthenia Gravis

Herein, we describe the mechanisms, diagnostic procedures, and treatment options for acetylcholine receptor (AChR) antibody-positive myasthenia gravis (MG). The upstream pathomechanism of this condition involves AChR-sensitized T cell-dependent B cell proliferation and the subsequent production of pathogenic autoantibodies. Downstream molecules include AChR antibodies that activate complement pathways, resulting in the destruction of motor endplates. We further introduce newly-developed molecular targeted drugs for the treatment of MG that aims to secure patients' health-related quality of life.

Diagnostic Accuracy of Specific IgE Against Wheat and Rye in Flour-Induced Occupational Asthma

Assessment of IgE-mediated sensitization to flour allergens is widely used to investigate flour-induced occupational asthma. The diagnostic efficiency of detecting specific IgE antibodies (sIgE) against wheat and rye flour, however, has not been thoroughly compared to other diagnostic procedures. We sought to evaluate the diagnostic accuracy of sIgE against wheat and rye compared to specific inhalation challenge (SIC) with flour as the reference standard. This retrospective multicenter study included 264 subjects who completed a SIC with flour in eight tertiary centers, of whom 205 subjects showed a positive SIC result. Compared with SIC, sIgE levels ≥0.35 kUA/L against wheat and rye provided similar sensitivities (84%-85%, respectively), specificities (71%-78%), positive predictive values (91%-93%), and negative predictive value (56%-61%). Increasing the threshold sIgE value to 5.10 kUA/L for wheat and to 6.20 kUA/L for rye provided a specificity ≥95% and further enhanced the positive predictive value to 98%. Among subjects with a positive SIC, those who failed to demonstrate sIgE against wheat and rye (n=26) had significantly lower total serum IgE level and blood and sputum eosinophil counts, and a lesser increase in post-challenge fractional exhaled nitric oxide as compared to the subjects with detectable sIgE. High levels of sIgE against wheat and/or rye flour strongly support a diagnosis of flour-induced occupational asthma without the need for performing a SIC. The absence of detectable sIgE against wheat and rye in subjects with a positive SIC seems to be associated with lower levels of TH2 biomarkers.

Breaking barriers: A 360-degree dive into operational challenges in diagnostic laboratories

Breaking barriers: A 360-degree dive into operational challenges in diagnostic laboratories

Enhancing patient care: Leveraging Sigma metrics for unparalleled quality in laboratory diagnostics at General Hospital PTUJ

Enhancing patient care: Leveraging Sigma metrics for unparalleled quality in laboratory diagnostics at General Hospital PTUJ

Upper Gastrointestinal Endoscopy by Pediatric Surgeons: Our Early Experience

ABSTRACT Introduction: Pediatric upper gastrointestinal (UGI) endoscopy is an important procedure in the management of gastrointestinal pathologies. Conventionally, it has been the forte of medical gastroenterologists. However, unlike adults, the availability of pediatric gastroenterologists is limited, especially during emergency hours. We present our early experience of UGI endoscopy done by the department of pediatric surgery. Aims: The aim of this study was to study the feasibility and benefits of UGI endoscopy by pediatric surgeons. Materials and Methods: A retrospective descriptive study was carried out by the department of pediatric surgery of a tertiary-level medical college, from January 2017 to January 2022. Data were collected from electronic and physical medical records. Parameters included age, gender, indication for endoscopy, and procedures done endoscopically or based on endoscopic findings and complications. Results: One hundred and thirty endoscopies were done in 95 patients aged 1–16 years, from January 2017 to January 2022. The most common indication for UGI endoscopy was esophageal stricture (71 procedures in 41 patients), followed by UGI foreign body (18 cases). All other indications were mostly diagnostic, other than four patients with achalasia. Thirty of these patients underwent UGI endoscopy as an emergency procedure. Seventeen patients were followed through or had added procedures, with UGI endoscopy. There was one perforation when dilating an esophageal stricture who responded to conservative management. Conclusion: UGI endoscopy is a valuable diagnostic and therapeutic procedure, which can be performed by pediatric surgeons after necessary training. It supplements decision-making in management, avoids waste of time in referring, avoids additional anesthesia, and is valuable in emergencies.

Adherence to follow-up and resource use after abnormal FIT-screening: Evaluation of the Danish colorectal cancer screening program.

Background and study aims The effectiveness of colorectal cancer screening programs depends on adherence to surveillance protocols for screening-positive individuals. We evaluated adherence in the Danish population-based screening program and estimated the volume of diagnostic resources required to achieve this adherence. Patients and methods In this register- and population-based study, we included individuals with a positive fecal immunochemical test (FIT) screening from 2014 to 2017 and followed them until mid-2022. All endoscopic, imaging, and surgical procedures performed at public and private hospitals were identified. Adherence to national protocols was reported in terms of proportions and timeliness. Use of diagnostic and surveillance procedures was estimated during a 4-year post-screening period. Results Among 82,221 individuals with a positive FIT test, 84% had a baseline colonoscopy within 1 month. After removal of intermediate or high-risk adenomas, 12% and 6%, respectively, did not have any follow-up. Only ~50% had timely surveillance. Approximately 10% to 20%, depending on their referral diagnosis, did not have a second surveillance colonoscopy. In addition, 12% with a negative colonoscopy had a second colonoscopy within 4 years. Conclusions High adherence to baseline colonoscopy after positive FIT-screening is followed by lower adherence throughout the adenoma surveillance program. Better adherence to the guidelines could potentially improve the effectiveness and efficiency of the screening program.

Характеристика пацієнтів з ішемічною хворобою серця та стабільною стенокардією в Україні, оцінка підходів до їх лікування за даними багатоцентрового дослідження GO-OD

Treatment of coronary artery disease (CAD) and stable angina, includes lifestyle modification, pharmacological therapy and invasive interventions to achieve stabilization or regression of the disease. Knowledge of the current situation regarding the use of pharmacological therapy and evaluation of its effectiveness is necessary for further management optimization. Trimetazidine (TMZ) has previously been shown to reduce angina symptoms and increase exercise tolerance in patients with CAD and stable angina and may be among an option for optimizing antianginal treatment. However, the effectiveness of long-term treatment depends on patient adherence, so the use of TMZ once daily (OD) at a dose of 80 mg may improve satisfaction and adherence in patients with CAD and stable angina.Methods. The GO-OD study is a 3-month, non-interventional, observational, multicenter prospective study conducted in Ukraine in a real-world outpatient cardiology practice during February – August 2021. Physicians were instructed to continue monitoring and treating patients in accordance with usual practice and international guidelines. No additional diagnostic or monitoring procedures were performed. Clinical, instrumental and laboratory data, frequency of angina attacks, consumption of short-acting nitrates (SAN), adherence to antianginal drugs, as well as the overall efficacy, tolerability of TMZ OD 80 mg in real-world clinical practice were analyzed. The observation includes regular assessment of patients` clinical status, treatment optimization and its effectiveness at follow up visits.Results. The study included 1529 patients (mean age 62.5 years, 56 % men). In the absence of adequate control of risk factors, pharmacological control of symptoms, and limited use of interventional and surgical treatments, the frequency of angina episodes was high, most patients had a pronounced angina functional class according to the Canadian Society of Cardiology classification (10.5 % – CCS I, 60.1 % – CCS II, 29.5 % – CCS III). Thus, the average number of angina attacks per week in CCS I was 3.7, in CCS II – 5.2, and in CCS III – 7, 97 attacks. In addition to the severity of symptoms, the following pattern was observed: the higher the angina class, the more risk factors and comorbidities patients had. After 3 months of follow-up due to optimization of therapy, there was a significant (p&lt;0.001) decrease in the frequency of angina attacks – from (5.8±4.7 to 1.6±2.0)/week, and the use of SAN – from (4.2±4.3 to 0.8±1.6)/week). At the same time, in 3 month the % of patients with CCS II and III significantly decreased, while the % of patients with CCS I increased (48.4 % – CCS I, 45.7 % – CCS II, 6 % – CCS III). Adherence to medication was improved: 49 % of patients reported high adherence (vs. 18 % at baseline) and 12 % – low adherence (vs. 52 % at baseline). After 3 months of follow-up most of doctors rated the overall tolerability and effectiveness of the therapy as «very satisfied». Patients’ satisfaction with TMZ OD 80 mg therapy after 3 months of follow-up was 9.5 points [on a scale of 1 to 10 (very satisfied)]. Patients’ assessment of daily physical activity increased significantly: 2.42 versus 5.89 points at baseline (on a scale of 1 to 10 (severe limitation)).Conclusions. In general, the management of outpatients with CAD and stable angina in the current cardiologists’ practice, which was complicated by the COVID-19 pandemic, was not effective enough, resulting in a high frequency of angina attacks – almost 6 per week, and a significant limitation of daily activity due to angina symptoms.Significant deficiency in the management of studied population was insufficient correction of such important risk factors as hypertension, heart rate, dyslipidemia, and lifestyle-related risk factors (overweight and obesity, low level of physical activity). The baseline therapy of patients in the study was in line with current guidelines, but with an insufficient frequency of statin prescription (78 %) and ACE inhibitors (54.5 %); antianginal treatment with an average of 2 or more antianginal drugs was not optimal for controlling angina symptoms, and the frequency of coronary revascularization procedures was also insufficient, mostly during acute MI (58.0 %).Optimization of drug therapy as the first step in correcting the condition of patients with CAD and stable angina in accordance with all current recommendations with the inclusion of the original trimetazidine OD 80 mg once daily among antianginal drugs, as well as active monitoring of patients for 3 months allowed to reduce the frequency of angina attacks regardless of its initial FC, increase patient adherence to treatment and their functional activity.

Leveraging machine learning to improve current diagnostic algorithms and laboratory stewardship

Leveraging machine learning to improve current diagnostic algorithms and laboratory stewardship

Data-driven diagnosis of high temperature PEM fuel cells based on the electrochemical impedance spectroscopy: Robustness improvement and evaluation

Utilizing machine learning techniques for data-driven diagnosis of high temperature PEM fuel cells is beneficial and meaningful to the system durability. Nevertheless, ensuring the robustness of diagnosis remains a critical and challenging task in real application. To enhance the robustness of diagnosis and achieve a more thorough evaluation of diagnostic performance, a robust diagnostic procedure based on electrochemical impedance spectroscopy (EIS) and a new method for evaluation of the diagnosis robustness was proposed and investigated in this work. To improve the diagnosis robustness: (1) the degradation mechanism of different faults in the high temperature PEM fuel cell was first analyzed via the distribution of relaxation time of EIS to determine the equivalent circuit model (ECM) with better interpretability, simplicity and accuracy; (2) the feature extraction was implemented on the identified parameters of the ECM and extra attention was paid to distinguishing between the long-term normal degradation and other faults; (3) a Siamese Network was adopted to get features with higher robustness in a new embedding. The diagnosis was conducted using 6 classic classification algorithms—support vector machine (SVM), K-nearest neighbor (KNN), logistic regression (LR), decision tree (DT), random forest (RF), and Naive Bayes employing a dataset comprising a total of 1935 collected EIS. To evaluate the robustness of trained models: (1) different levels of errors were added to the features for performance evaluation; (2) a robustness coefficient (Roubust_C) was defined for a quantified and explicit evaluation of the diagnosis robustness. The diagnostic models employing the proposed feature extraction method can not only achieve the higher performance of around 100% but also higher robustness for diagnosis models. Despite the initial performance being similar, the KNN demonstrated a superior robustness after feature selection and re-embedding by triplet-loss method, which suggests the necessity of robustness evaluation for the machine learning models and the effectiveness of the defined robustness coefficient. This work hopes to give new insights tothe robust diagnosis ofhigh temperature PEM fuel cells andmore comprehensive performance evaluation of the data-drivenmethod fordiagnosticapplication.

Prognostic value of CDKN2A in head and neck squamous cell carcinoma via pathomics and machine learning.

This study aims to enhance the prognosis prediction of Head and Neck Squamous Cell Carcinoma (HNSCC) by employing artificial intelligence (AI) to analyse CDKN2A gene expression from pathology images, directly correlating with patient outcomes. Our approach introduces a novel AI-driven pathomics framework, delineating a more precise relationship between CDKN2A expression and survival rates compared to previous studies. Utilizing 475 HNSCC cases from the TCGA database, we stratified patients into high-risk and low-risk groups based on CDKN2A expression thresholds. Through pathomics analysis of 271 cases with available slides, we extracted 465 distinctive features to construct a Gradient Boosting Machine (GBM) model. This model was then employed to compute Pathomics scores (PS), predicting CDKN2A expression levels with validation for accuracy and pathway association analysis. Our study demonstrates a significant correlation between higher CDKN2A expression and improved median overall survival (66.73 months for high expression vs. 42.97 months for low expression, p = 0.013), establishing CDKN2A's prognostic value. The pathomic model exhibited exceptional predictive accuracy (training AUC: 0.806; validation AUC: 0.710) and identified a strong link between higher Pathomics scores and cell cycle activation pathways. Validation through tissue microarray corroborated the predictive capacity of our model. Confirming CDKN2A as a crucial prognostic marker in HNSCC, this study advances the existing literature by implementing an AI-driven pathomics analysis for gene expression evaluation. This innovative methodology offers a cost-efficient and non-invasive alternative to traditional diagnostic procedures, potentially revolutionizing personalized medicine in oncology.

Prevalence of pre-analytical error in diagnostic laboratory of National Heart Institute, Malaysia

Prevalence of pre-analytical error in diagnostic laboratory of National Heart Institute, Malaysia

The hidden burden of melioidosis in Nepal: A paradigm for the urgent need to implement a simple laboratory algorithm to detect melioidosis in low-resource endemic areas

Melioidosis, an emerging infectious disease caused by the gram-negative bacillus Burkholderia pseudomallei, is massively underdiagnosed in many low- and middle-income countries. The disease is clinically extremely variable, has a high case fatality rate and assumed to be highly endemic in South Asian countries, including Nepal. The reasons for underdiagnosis include lack of awareness among clinicians and laboratory staff and limited microbiological capacities. Since costly laboratory equipment and consumables are likely to remain a significant challenge in many melioidosis-endemic countries in the near future it will be necessary to make optimum use of available tools and promote their stringent implementation. Therefore, we suggest that health facilities in resource-poor countries such as Nepal introduce a simple and low-cost diagnostic laboratory algorithm for the identification of B. pseudomallei cultures. This screening algorithm should be applied specifically to samples from patients with fever of unknown origin and risk factors for melioidosis such as diabetes. Additionally, there could also be a role of low-cost novel promising serological point-of-care tests, which are currently under research and development.

Assessing bacterial prevalence and resistance in paediatric meningitis: safeguarding the central nervous system.

Paediatric bacterial meningitis (PBM) represents a major contributor to childhood morbidity and mortality globally, with heightened susceptibility in low- and middle-income nations where antimicrobial resistance (AMR) is highly prevalent. Pakistan exemplifies this setting, with widespread antibiotic overuse driving AMR expansion. Thus, expediting PBM diagnosis and targeted antibiotic therapy is imperative yet challenged by the dynamic local epidemiology. This study aimed to delineate the recent bacterial etiologies and AMR profiles of PBM from a major Pakistani diagnostics laboratory to inform empirical treatment. This prospective observational investigation evaluated PBM epidemiology in patients under 18 years old admitted to the study hospital. Standard cerebrospinal fluid analysis identified bacterial pathogens and antibiotic susceptibility patterns. Among 171 PBM cases, 152 (88.9%) had bacterial isolates confirmed via culture. The cohort was 42.7% male with a mean age of 3 months. The most prevalent pathogens among infants younger than 3 months were Escherichia coli, Enterococcus faecium, and Staphylococcus epidermidis, contrasting with S. epidermidis, Streptococcus pneumoniae, and Staphylococcus hominis predominating in older children. Staphylococcal isolates exhibited considerable penicillin and erythromycin resistance but maintained vancomycin and linezolid susceptibility. Other resistance patterns varied. These findings highlight the pressing threat of paediatric AMR in Pakistan, underscoring the need for vigilant AMR surveillance and judicious antimicrobial use. This study provides a reference to current PBM epidemiology to guide context-specific empirical therapy.

The role of laboratory diagnostics in determining the physical health of psychiatric inpatients

The role of laboratory diagnostics in determining the physical health of psychiatric inpatients

The Utilisation of Fine Needle Aspiration Cytology for Diagnosis of Head and Neck Lesions in Paediatric Age Group

The Utilisation of Fine Needle Aspiration Cytology for Diagnosis of Head and Neck Lesions in Paediatric Age Group

Role of nuclear medicine assessing patients with suspected coronary artery disease

Nuclear medicine is a critical component in the field of cardiology as it provides diagnostic and prognostic insights that are essential for the effective management of heart disease. Both single photon emission computed tomography (SPECT) and positron emission tomography (PET) play a significant role in assessing the likelihood of ischemic heart disease based on pre-test probabilities. Both SPECT and PET should be integrated into the clinical pathway according to the patient’s individual risk profile, symptoms, and initial test results. The guidelines recommend using these imaging modalities to refine risk stratification, particularly in intermediate-risk patients, and to guide further invasive diagnostic or therapeutic procedures based on the imaging findings.