Diagnostics, Volume 14, Issue 1 (January-1 2024) – 120 articles

Acute respiratory distress syndrome (ARDS) is one of the major problems in COVID-19 that is not well understood. ARDS is usually complicated by co-infections in hospitals. Although ARDS is inherited by Europeans and Africans, this is not clear for those from the Middle East. There are severe limitations in correlations made between COVID-19, ARDS, co-infectome, and patient demographics. We investigated 298 patients for associations of ARDS, coinfections, and patient demographics on COVID-19 patients’ outcomes. Of the 149 patients examined for ARDS during COVID-19, 16 had an incidence with a higher case fatality rate (CFR) of 75.0% compared to those without ARDS (27.0%) (p value = 0.0001). The co-infectome association showed a CFR of 31.3% in co-infected patients; meanwhile, only 4.8% of those without co-infections (p value = 0.01) died. The major bacteria were Acinetobacter baumannii and Escherichia coli, either alone or in a mixed infection with Klebsiella pneumoniae. Kaplan–Meier survival analysis of COVID-19 patients with and without ARDS revealed a significant difference in the survival time of patients with ARDS (58.8 +/− 2.7 days) and without ARDS (41.9 +/− 1.8 days) (p value = 0.0002). These findings prove that increased hospital time was risky for co-infectome-induced SDRS later on. This also explained that while empiric therapy and lethal ventilations delayed the mortality in 75% of patients, they potentially did not help those without co-infection or ARDS who stayed for shorter times. In addition, the age of patients (n = 298) was significantly associated with ARDS (72.9 +/− 8.9) compared to those without it (56.2 +/− 15.1) and was irrespective of gender. However, there were no significant differences neither in the age of admitted patients before COVID-19 (58.5 +/− 15.3) and during COVID-19 (57.2 +/− 15.5) nor in the gender and COVID-19 fatality (p value 0.546). Thus, Gram-negative co-infectome potentially induced fatal ARDS, aggravating the COVID-19 outcome. These findings are important for the specific differential diagnosis of patients with and without ARDS and co-infections. Future vertical investigations on mechanisms of Gram-negative-induced ARDS are imperative since hypervirulent strains are rapidly circulating. This study was limited as it was a single-center study confined to Ha’il hospitals; a large-scale investigation in major national hospitals would gain more insights. Full article

The aim of this work is to analyze the viral titers of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and respiratory syncytial virus (RSV) at the anterior nasal site (ANS) and nasopharyngeal site (NS), evaluate their virological dynamics, and validate the usefulness of a newly developed two-antigen-detecting rapid antigen diagnostic test (Ag-RDT) that simultaneously detects SARS-CoV-2 and RSV using clinical specimens. This study included 195 asymptomatic to severely ill patients. Overall, 668 specimens were collected simultaneously from the ANS and NS. The cycle threshold (Ct) values calculated from real-time polymerase chain reaction were used to analyze temporal changes in viral load and evaluate the sensitivity and specificity of the Ag-RDT. The mean Ct values for SARS-CoV-2-positive, ANS, and NS specimens were 28.8, 28.9, and 28.7, respectively. The mean Ct values for RSV-positive, ANS, and NS specimens were 28.7, 28.8, and 28.6, respectively. SARS-CoV-2 and RSV showed the same trend in viral load, although the viral load of NS was higher than that of ANS. The sensitivity and specificity of the newly developed Ag-RDT were excellent in specimens collected up to 10 days after the onset of SARS-CoV-2 infection and up to 6 days after the onset of RSV infection. Full article

To evaluate the prediction model comprised of patients’ laboratory results and single-nucleotide polymorphism (SNP) markers of host gene for the clearance of hepatitis B surface antigen (HBsAg) in patients with chronic hepatitis B (CHB) who underwent interferon (IFN)-α therapy, this prospective case–control study enrolled 131 patients with CHB who underwent IFN-α-based regimens in our hospital between January 2015 and September 2019. Among them, 56 cases were without HBsAg clearance, while the other 75 cases had HBsAg clearance. Multivariable logistic regression analysis showed that CYP27B1 rs4646536 (odd ratio [OR] = 0.155, 95% CI: 0.030–0.807, p = 0.027), PAK4 rs9676717 (OR = 11.237, 95% CI: 1.768–71.409, p = 0.010), IL28B rs12979860 (OR = 0.059, 95% CI: 0.006–0.604, p = 0.017), baseline HBsAg (OR = 0.170, 95% CI: 0.040–0.716, p = 0.016), and HBeAg status (OR = 3.971, 95% CI: 1.138–13.859, p = 0.031) were independently associated with HBsAg clearance. The model that included rs3077, rs4646536, rs9676717, rs2850015, rs12979860, baseline HBsAg, HBeAg status, and HBV DNA had the best prediction performance for HBsAg clearance prediction, with AUC = 0.877, 80% sensitivity, and 81% specificity. In conclusion, laboratory results and gene polymorphisms before treatment might have a good predictive value for HbsAg clearance after IFN-α treatment in CHB. Full article

Prenatal diagnosis of clubfoot traditionally relied on two-dimensional ultrasonography. To enhance diagnosis and predict postnatal outcomes, we examined the parameters that differentiate pathological clubfoot using three-dimensional ultrasonography. In our retrospective study, we examined the findings of prenatal ultrasound and the postnatal outcomes of pregnancies with suspected congenital clubfoot between 2018 and 2021. Based on the three-dimensional perspective, we measured the angles of varus, equinus, calcaneopedal block, and forefoot adduction and compared the sonographic variables between the postnatal treated and non-treated groups. We evaluated 31 pregnancies (47 feet) with suspected clubfoot using three-dimensional ultrasonography. After delivery, a total of 37 feet (78.7%) underwent treatment involving serial casting only or additional Achilles tenotomy. The treated group showed significantly greater hindfoot varus deviation (60.5° vs. 46.6°, p = 0.026) and calcaneopedal block deviation (65.6° vs. 26.6°, p < 0.05) compared to the non-treated group. The calcaneopedal block had an area under the curve of 0.98 with a diagnostic threshold of 46.2 degrees (sensitivity of 97%, specificity of 90%, positive predictive value of 97%, and negative predictive value of 90%). During prenatal evaluation of clubfoot using three-dimensional ultrasonography, the calcaneopedal block deviation has the potential to predict postnatal treatment. Full article

Background: Forearm intersection syndrome causes pain, swelling, and a rub at the dorsal distal forearm where the first extensor compartment muscles intersect with the second compartment tendons. Although primary care settings tend to treat mild cases, high-performance athletes may suffer from severe symptoms that require surgery. This proof-of-concept study aims to help detect the anatomical substrate of forearm intersection syndrome using palpation and ultrasonography when available. Methods: Five individuals were studied using independent palpation and ultrasonography to identify the first dorsal compartment muscles and the second dorsal compartment tendons. The distances between the dorsal (Lister’s) tubercle of the radius and the ulnar and radial edges of the first dorsal compartment muscles were measured to determine the location and extent of the muscle–tendon intersection. The palpatory and ultrasonographic measurements were compared using descriptive statistics and the paired t-test. Results: The mean distances from the dorsal tubercle of the radius to the ulnar and radial borders of the first dorsal compartment muscles were 4.0 cm (SE 0.42) and 7.7 cm (SE 0.56), respectively, based on palpation. By ultrasonography, the corresponding distances were 3.5 cm (SD 1.05, SE 0.47) and 7.0 cm (SD 1.41, SE 0.63). Both methods showed a similar overlap length. However, ultrasonography revealed a shorter distance between the dorsal tubercle of the radius and the ulnar border of the first compartment than palpation (p = 0.0249). Conclusions: Our findings indicate that a basic knowledge of anatomy should help health professionals diagnose forearm intersection syndrome through palpation and, if available, ultrasonography. Full article

Left ventricular non-compaction (LVNC) is a heterogeneous myocardial disorder characterized by prominent trabeculae protruding into the left ventricular lumen and deep intertrabecular recesses. LVNC can manifest in isolation or alongside other heart muscle diseases. Its occurrence among children is rising due to advancements in imaging techniques. The origins of LVNC are diverse, involving both genetic and acquired forms. The clinical manifestation varies greatly, with some cases presenting no symptoms, while others typically manifesting with heart failure, systemic embolism, and arrhythmias. Diagnosis mainly relies on assessing heart structure using imaging tools like echocardiography and cardiac magnetic resonance. However, the absence of a universally agreed-upon standard and limitations in diagnostic criteria have led to ongoing debates in the scientific community regarding the most reliable methods. Further research is crucial to enhance the diagnosis of LVNC, particularly in early life stages. Full article

Background: Pneumocystis jirovecii pneumonia is increasingly diagnosed with highly sensitive PCR diagnostics in immunocompromised, HIV-negative individuals. We assessed the performance of our in-house quantitative PCR with the aim to optimise interpretation. Methods: Retrospective audit of all positive P. jirovecii qPCRs on induced sputum or BAL fluid at a single centre from 2012 to 2023. Medical and laboratory records were analysed and people with HIV were excluded. Cases were categorised as colonisation, high-probability PCP or uncertain PCP infection against a clinical gold standard incorporating clinico-radiological data. Quantitative PCR assay targeting the 5s gene was utilised throughout the time period. Results: Of the 82 positive qPCRs, 28 were categorised as high-probability PCP infection, 30 as uncertain PCP and 24 as colonisation. There was a significant difference in qPCR values stratified by clinical category but not respiratory sample type. Current assay performance with a cutoff of 2.5 × 10⁵ copies/mL had a sensitivity of 50% (95% CI, 30.65–69.35%) and specificity of 83.33% (95% CI, 62.62–95.26%). Youden Index calculated at 6.5 × 10⁴ copies/mL had a sensitivity of 75% (56.64–87.32%, 95% CI) and specificity of 66.67% (46.71–82.03%, 95% CI). High and low cutoffs were explored. Significant variables associated with infection were age > 70 years old, the presence of fever, hypoxia or ground glass changes. Conclusions: A single qPCR cutoff cannot reliably determine P. jirovecii infection from colonisation. Low and high cutoffs are useful, however, a large “possible infection” cohort will remain where interpretation of clinic-radiological factors remains essential. Standardisation of assays with prospective validation in specific immunocompromised groups will allow greater generalisability and allow large-scale prospective assay validation to be performed. Full article

The purpose of this study was to review the diagnostic accuracy of MRI in detecting perineural spreading (PNS) of head and neck tumors using histopathological or surgical evidence from the afflicted nerve as the reference standard. Previous studies in the English language published in the last 30 years were searched from PubMed and Embase databases. We included studies that used magnetic resonance imaging (MRI) (with and without contrast enhancement) to detect PNS, as well as the histological or surgical confirmation of PNS, and that reported the exact numbers of patients required for assessing diagnostic accuracy. The outcome measures were sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). Heterogeneity was assessed with the Higgins inconsistency test (I²). P-values smaller than 0.05 were considered statistically significant. A total of 11 retrospective studies were found, reporting 319 nerve samples from 245 patients. Meta-analytic estimates and their 95% confidence intervals were as follows: sensitivity 0.85 (0.70–0.95), specificity 0.85 (0.80–0.89), PPV 0.86 (0.70–0.94), and NPV 0.85 (0.71–0.93). We found statistically significant heterogeneity for sensitivity (I² = 72%, p = 0.003) and PPV (I² = 70%, p = 0.038), but not for NPV (I² = 65%, p = 0.119) or specificity (I² = 12%, p = 0.842). The most frequent MRI features of PNS were nerve enlargement and enhancement. Squamous cell carcinoma and adenoid cystic carcinoma were the most common tumor types, and the facial and trigeminal nerves were the most commonly affected nerves in PNS. Only a few studies provided examples of false MRI diagnoses. MRI demonstrated high diagnostic accuracy in depicting PNS of cranial nerves, yet this statement was based on scarce and heterogeneous evidence. Full article

Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term ‘hereditary thoracic aortic diseases’. The present review aims to summarize this very heterogeneous population’s clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management. Full article

Post-thyroidectomy syndrome (PTS), characterized by voice issues after thyroidectomy without recurrent laryngeal nerve injury, was investigated in this study. The Voice Fatigue Index (VFI) and cepstral analysis were employed for subjective and objective voice evaluation. Retrospective analysis involved 96 patients (37 males, 59 females) who underwent thyroidectomy without nerve injury from April 2018 to June 2022. Assessments pre- and post-thyroidectomy included the Voice Handicap Index (VHI) and VFI, along with auditory perceptual, acoustic (including cepstral), aerodynamic, and glottal vibration analyses. In females, although the GRBAS scale showed no significant change, both VHI and VFI increased post-thyroidectomy. Significant correlations were observed between the VHI and VFI in females. Acoustic analysis indicated a decrease in the cepstral peak prominence (CPP) of vowels (/a/) and sentences in females, with significant correlations between changes in the CPP/a/ and VHI/VFI. The maximum fundamental frequency (F₀max) exhibited a significant decrease, correlating with the VHI and VFI changes. The VFI demonstrated effectiveness in subjective PTS voice evaluation, comparable to the VHI. The present study highlights the potential of cepstral analysis as an index reflecting subjective voice discomfort, suggesting its promise for a comprehensive PTS voice evaluation. Full article

The frequency of concurrent thyroid cancer in patients with primary hyperparathyroidism (pHPT) varies. While the pathological association between thyroid and parathyroid disorders is frequently noted, the co-occurrence of parathyroid adenoma and papillary thyroid cancer is exceptionally rare. Furthermore, an ectopic parathyroid adenoma in the retropharyngeal space is exceedingly rare. Therefore, anatomical variations through the utilization of relevant diagnostic tools play a crucial role in guiding decisions pertaining to clinical manifestations, diagnostic methods, surgical interventions, and operative strategies for parathyroid tumors. We present a case of a 51-year-old female patient with papillary thyroid carcinoma in the right thyroid lobe and an ectopic parathyroid adenoma in the retropharyngeal space confirmed through surgical intervention. The elevated preoperative levels of serum calcium and parathyroid hormone, along with low serum phosphate, returned to normal ranges after surgery. This case sheds light on the unusual occurrence of an ectopic parathyroid adenoma in the retropharyngeal region within a thyroid cancer patient, providing valuable insights into the realm of thyroid malignancies. Full article

Artificial intelligence (AI) has emerged as a transformative force in various sectors, including medicine and healthcare. Large language models like ChatGPT showcase AI’s potential by generating human-like text through prompts. ChatGPT’s adaptability holds promise for reshaping medical practices, improving patient care, and enhancing interactions among healthcare professionals, patients, and data. In pandemic management, ChatGPT rapidly disseminates vital information. It serves as a virtual assistant in surgical consultations, aids dental practices, simplifies medical education, and aids in disease diagnosis. A total of 82 papers were categorised into eight major areas, which are G1: treatment and medicine, G2: buildings and equipment, G3: parts of the human body and areas of the disease, G4: patients, G5: citizens, G6: cellular imaging, radiology, pulse and medical images, G7: doctors and nurses, and G8: tools, devices and administration. Balancing AI’s role with human judgment remains a challenge. A systematic literature review using the PRISMA approach explored AI’s transformative potential in healthcare, highlighting ChatGPT’s versatile applications, limitations, motivation, and challenges. In conclusion, ChatGPT’s diverse medical applications demonstrate its potential for innovation, serving as a valuable resource for students, academics, and researchers in healthcare. Additionally, this study serves as a guide, assisting students, academics, and researchers in the field of medicine and healthcare alike. Full article

Metal artifact reduction (MAR) algorithms are commonly used in computed tomography (CT) scans where metal implants are involved. However, MAR algorithms also have the potential to create new artifacts in reconstructed images. We present a case of a screw pseudofracture due to MAR on CT. Full article

Shoulder pain is a common issue often linked to conditions such as subacromial impingement or rotator cuff lesions. The role of the acromion in these symptoms remains a subject of debate. This study aims to establish standardized values for commonly used acromion dimensions based on whole-body MRI scans of a large and healthy population and to investigate potential correlations between acromion shape and influencing factors such as sex, age, BMI, dominant hand, and shoulder pain. The study used whole-body MRI scans from the Study of Health in Pomerania, a German population-based study. Acromion index, acromion tilt, and acromion slope were measured. Interrater variability was tested with two independent, trained viewers on 100 MRI sequences before actual measurements started. Descriptive statistics and logistic regression were used to evaluate the results. We could define reference values based on a shoulder-healthy population for each acromion parameter within the 2.5 to 97.5 percentile. No significant differences were found in acromion slope, tilt, and index between male and female participants. No significant correlations were observed between acromion morphology and anthropometric parameters such as height, weight, or BMI. No significant differences were observed in acromion parameters between dominant and non-dominant hands or stated pain intensity. This study provides valuable reference values for acromion-related parameters, offering insight into the anatomy of a healthy shoulder. The findings indicate no significant differences in acromion morphology based on sex, weight, BMI, or dominant hand. Further research is necessary to ascertain the clinical implications of these reference values. The establishment of standardized reference values opens new possibilities for enhancing clinical decision making regarding surgical interventions, such as acromioplasty. Full article

Parknson’s disease (PD) is the second most common neurodegenerative disease, affecting 1% of people aged over 60. PD is characterized by a wide range of motor symptoms, however the clinical spectrum of PD covers a wide range of non-motor symptoms, as well. Sleep disorders are among the most common non-motor symptoms of PD, can occur at any stage of the disease and significantly affect quality of life. These include rapid eye movement sleep behavior disorder (RBD), restless legs syndrome (RLS), excessive daytime sleepiness (EDS), insomnia, obstructive sleep apnea (OSA) and circadian rhythm disturbances. One of the main challenges in PD research is identifying individuals during the prodromal phase of the disease. Combining genetic and prodromal data may aid the early identification of individuals susceptible to PD. This review highlights current data regarding the genetic component of sleep disorders in PD patients, focusing on genes that have currently been associated with this PD co-morbidity. Full article

Ultra-wide-field fundus imaging (UFI) provides comprehensive visualization of crucial eye components, including the optic disk, fovea, and macula. This in-depth view facilitates doctors in accurately diagnosing diseases and recommending suitable treatments. This study investigated the application of various deep learning models for detecting eye diseases using UFI. We developed an automated system that processes and enhances a dataset of 4697 images. Our approach involves brightness and contrast enhancement, followed by applying feature extraction, data augmentation and image classification, integrated with convolutional neural networks. These networks utilize layer-wise feature extraction and transfer learning from pre-trained models to accurately represent and analyze medical images. Among the five evaluated models, including ResNet152, Vision Transformer, InceptionResNetV2, RegNet and ConVNext, ResNet152 is the most effective, achieving a testing area under the curve (AUC) score of 96.47% (with a 95% confidence interval (CI) of 0.931–0.974). Additionally, the paper presents visualizations of the model’s predictions, including confidence scores and heatmaps that highlight the model’s focal points—particularly where lesions due to damage are evident. By streamlining the diagnosis process and providing intricate prediction details without human intervention, our system serves as a pivotal tool for ophthalmologists. This research underscores the compatibility and potential of utilizing ultra-wide-field images in conjunction with deep learning. Full article

The primary aim of our study was to assess the main mammographic and ultrasonographic features of invasive male breast malignancies. The secondary aim was to evaluate whether a specific radiological presentation would be associated with a worse receptor profile. Radiological images (mammography and/or ultrasound) of all patients who underwent surgery for male invasive breast cancer in our institution between 2008 and 2023 were retrospectively analyzed by two breast radiologists in consensus. All significant features of radiological presentation known in the literature were re-evaluated. Fifty-six patients were selected. The mean age at surgery of patients was 69 years (range: 35–81); in 82% of cases (46 patients), the histologic outcome was invasive ductal carcinoma. A total of 28 out of 56 (50%) patients had preoperative mammography; in 9/28 cases (32%), we found a mass with microcalcifications on mammography. The mass presented high density in 25 out of 28 patients (89%); the mass showed irregular margins in 15/28 (54%) cases. A total of 46 out of 56 patients had preoperative ultrasounds. The lesion showed a solid mass in 41/46 (89%) cases. In 5/46 patients (11%), the lesion was a mass with a mixed (partly liquid–partly solid) structure. We did not find any statistically significant correlation between major types of radiological presentation and tumor receptor arrangement. Knowledge of the main radiologic presentation patterns of malignant male breast neoplasm can help better manage this type of disease, which is rare but whose incidence is increasing. Full article

Chronic rhinosinusitis (CRS) can have a significant impact on quality of life. With persistent symptoms and the failure of initial medical treatments, surgical management is indicated. Despite the excellent results of endoscopic sinus surgery for persistent CRS, it is quite a challenging procedure for frontal sinusitis given the complex anatomy and location of the frontal sinus. Frontal recess cells significantly contribute to the complexity of the frontal sinus, and numerous studies have sought to establish their association with sinusitis. This review offers a comprehensive understanding of frontal recess cells, their different classifications, their prevalence among different populations, and their relationship to sinusitis. After an extensive review of the current literature, the International Frontal Sinus Anatomy Classification (IFAC) is the most recent classification method and a preferred practical preoperative assessment tool. Although the agger nasi cell is the most prevalent cell among all reported populations, ethnic variations are still influencing the other cells’ distribution. Studies are inconsistent in reporting a relationship between frontal recess cells and sinusitis, and that is mainly because of the differences in the classification methods used. More research using a standardized classification method is needed to understand the association between frontal recess cells and sinusitis. Full article

Fetal hyperthyroidism can occur secondary to maternal autoimmune hyperthyroidism. The thyroid-stimulating hormone receptor antibody (TRAb) transferred from the mother to the fetus stimulates the fetal thyroid and causes fetal thyrotoxicosis. Fetuses with this condition are difficult to detect, especially after maternal Graves disease therapy. Here, we present two cases of fetal hyperthyroidism with maternal hypothyroidism and review the assessment and intrauterine therapy for fetal hyperthyroidism. Both women were referred at 22⁺ and 23⁺ weeks of gestation with abnormal ultrasound findings, including fetal heart enlargement, pericardial effusion, and fetal tachycardia. Both women had a history of Graves disease while in a state of hypothyroidism with a high titer of TRAb. A sonographic examination showed a diffusely enlarged fetal thyroid with abundant blood flow. Invasive prenatal testing revealed no significant chromosomal aberration. Low fetal serum TSH and high TRAb levels were detected in the cord blood. Fetal hyperthyroidism was considered, and maternal oral methimazole (MMI) was administered as intrauterine therapy, with the slowing of fetal tachycardia, a reduction in fetal heart enlargement, and thyroid hyperemia. During therapy, maternal thyroid function was monitored, and the dosage of maternal levothyroxine was adjusted accordingly. Both women delivered spontaneously at 36⁺ weeks of gestation, and neonatal hyperthyroidism was confirmed in both newborns. After methimazole and propranolol drug treatment with levothyroxine for 8 and 12 months, both babies became euthyroid with normal growth and development. Full article

The aim of this study was to compare the effectiveness of trabeculectomy (TE) and deep sclerectomy (DS) in lowering intraocular pressure (IOP) and thereby preserving visual field and peripapillary retinal nerve fiber layer (RNFL) tissue in primary open-angle glaucoma (POAG) cases. IOP, number of IOP-lowering medications, visual acuity, mean defect of standard automated perimetry, and mean peripapillary RNFL thickness were retrospectively collected and followed up for 3 years after surgery. TE was performed in 104 eyes and DS in 183 eyes. Age, gender, laterality, IOP, number of medications, visual acuity, perimetry mean defect, and peripapillary RNFL thickness were equally distributed at baseline. Mean IOP decreased from 23.8 ± 1.4 mmHg and 23.1 ± 0.4 mmHg to 13.4 ± 0.6 mmHg (p < 0.001) and 15.4 ± 0.7 mmHg (p = 0.001) in the TE and DS groups, respectively. Mean defect remained stable (TE: −11.5 ± 0.9 dB to −12.0 ± 1.1 (p = 0.090); DS: −10.5 ± 0.9 dB to −11.0 ± 1.0 dB (p = 0.302)), while mean peripapillary RNFL thickness showed further deterioration during follow-up (TE group: 64.4 ± 2.1 μm to 59.7 ± 3.5 μm (p < 0.001); DS group: 64.9 ± 1.9 μm to 58.4 ± 2.1 μm (p < 0.001)). Both TE and DS were comparably effective concerning postoperative reduction in IOP and medication. However, glaucoma disease further progressed during follow-up. Full article

The colloid cyst is a non-malignant tumor growth made of a gelatinous material covered by a membrane of epithelial tissue. It is usually located posterior to the foramen of Monro, in the anterior aspect of the third ventricle of the brain. Due to its location, it can cause obstructive hydrocephalus, increased intracranial pressure, and sudden cardiac death, catecholamine-mediated, through hypothalamus compression. All the mechanisms are still controversial, but the role of catecholamine has been confirmed with histological findings that highlighted myocardial injury (coagulative myocytolysis and contraction band necrosis, CBN). This study presents a case of sudden death in a previously healthy 22-year-old male due to a colloid cyst of the third ventricle. A complete autopsy was performed, highlighting in the brain an abundant quantity of cerebrospinal fluid (CSF) and a 2 cm pale grayish-green rounded cyst formation partially filling and distending the third ventricle. The diagnosis was confirmed through immunohistochemical investigation: positivity for Periodic acid-Schiff (PAS) staining and CK7 expression. In cases such as the one reported here, a combined approach of autopsy, histology, and immunohistochemistry is mandatory in order to identify the neoformation’s location and morpho-structural characteristics for a correct differential diagnosis, as well as to identify the cause of death. Full article

Mismatch repair deficiency (d-MMR)/microsatellite instability (MSI), KRAS, and BRAF mutational status are crucial for treating advanced colorectal cancer patients. Traditional methods like immunohistochemistry or polymerase chain reaction (PCR) can be challenged by artificial intelligence (AI) based on whole slide images (WSI) to predict tumor status. In this systematic review, we evaluated the role of AI in predicting MSI status, KRAS, and BRAF mutations in colorectal cancer. Studies published in PubMed up to June 2023 were included (n = 17), and we reported the risk of bias and the performance for each study. Some studies were impacted by the reduced number of slides included in the data set and the lack of external validation cohorts. Deep learning models for the d-MMR/MSI status showed a good performance in training cohorts (mean AUC = 0.89, [0.74–0.97]) but slightly less than expected in the validation cohort when available (mean AUC = 0.82, [0.63–0.98]). Contrary to the MSI status, the prediction of KRAS and BRAF mutations was less explored with a less robust methodology. The performance was lower, with a maximum of 0.77 in the training cohort, 0.58 in the validation cohort for KRAS, and 0.82 AUC in the training cohort for BRAF. Full article

Interventional oncology (IO) is the field of Interventional Radiology that provides minimally invasive procedures under imaging guidance for the diagnosis and treatment of malignant tumors. Sophisticated devices can be utilized to increase standardization, accuracy, outcomes, and “repeatability” in performing percutaneous Interventional Oncology techniques. These technologies can reduce variability, reduce human error, and outperform human hand-to-eye coordination and spatial relations, thus potentially normalizing an otherwise broad diversity of IO techniques, impacting simulation, training, navigation, outcomes, and performance, as well as verification of desired minimum ablation margin or other measures of successful procedures. Stereotactic navigation and robotic systems may yield specific advantages, such as the potential to reduce procedure duration and ionizing radiation exposure during the procedure and, at the same time, increase accuracy. Enhanced accuracy, in turn, is linked to improved outcomes in many clinical scenarios. The present review focuses on the current role of percutaneous navigation systems and robotics in diagnostic and therapeutic Interventional Oncology procedures. The currently available alternatives are presented, including their potential impact on clinical practice as reflected in the peer-reviewed medical literature. A review of such data may inform wiser investment of time and resources toward the most impactful IR/IO applications of robotics and navigation to both standardize and address unmet clinical needs. Full article

In patients with hormone receptor positive, human epidermal receptor 2 negative (HR+/HER2−) negative breast cancer (BC), the TAILORx study showed the benefit of adding chemotherapy (CHT) to endocrine therapy (ET) in a subgroup of patients under 50 years with an intermediate Oncotype DX recurrence score (RS 11–25). The aim of the present study was to determine if the TAILORx findings, including the changes in the RS categories, impacted CHT use in the intermediate RS (11–25) group in daily practice, as well as to identify the main factors for CHT decisions. We conducted a retrospective study on 326 BC patients (59% node-negative), of which 165 had a BC diagnosis before TAILORx (Cohort A) and 161 after TAILORx publication (Cohort B). Changes in the RS categories led to shifts in patient population distribution, thereby leading to a 40% drop in the low RS (from 60% to 20%), which represented a doubling in the intermediate RS (from 30% to 60%) and an increase of 5% in the high RS (from 8–10% to 15%). The overall CHT recommendation and application did not differ significantly between cohort B when compared with A (19% vs. 22%, resp., p = 0.763). In the intermediate RS (11–25), CHT use decreased by 5%, while in the high-risk RS category (>25), there was an increase of 13%. The tumor board recommended CHT for 90% of the patients according to the new RS guidelines in cohort A and for 85% in cohort B. The decision for CHT recommendation was based on age (OR 0.93, 95% CI 0.08–0.97, p = 0.001), nodal stage (OR 4.77, 95% CI 2.03–11.22, p < 0.001), and RS categories (RS 11–25 vs. RS 0–10: OR 0.06 (95% CI 0.02–0.17), p < 0.001; RS > 26 vs. RS 11–25: OR 618.18 95% CI 91.64–4169.91, p < 0.001), but did not depend on the cohort. In conclusion, while the tumor board recommendation for CHT decreased in the intermediate RS category, there was an increase being reported in the high RS category, thus leading to overall minor changes in CHT application. As expected, among the younger women with intermediate RS and unfavorable histopathological factors, CHT use increased. Full article

Gaining the ability to audit the behavior of deep learning (DL) denoising models is of crucial importance to prevent potential hallucinations and adversarial clinical consequences. We present a preliminary version of AntiHalluciNet, which is designed to predict spurious structural components embedded in the residual noise from DL denoising models in low-dose CT and assess its feasibility for auditing the behavior of DL denoising models. We created a paired set of structure-embedded and pure noise images and trained AntiHalluciNet to predict spurious structures in the structure-embedded noise images. The performance of AntiHalluciNet was evaluated by using a newly devised residual structure index (RSI), which represents the prediction confidence based on the presence of structural components in the residual noise image. We also evaluated whether AntiHalluciNet could assess the image fidelity of a denoised image by using only a noise component instead of measuring the SSIM, which requires both reference and test images. Then, we explored the potential of AntiHalluciNet for auditing the behavior of DL denoising models. AntiHalluciNet was applied to three DL denoising models (two pre-trained models, RED-CNN and CTformer, and a commercial software, ClariCT.AI [version 1.2.3]), and whether AntiHalluciNet could discriminate between the noise purity performances of DL denoising models was assessed. AntiHalluciNet demonstrated an excellent performance in predicting the presence of structural components. The RSI values for the structural-embedded and pure noise images measured using the 50% low-dose dataset were 0.57 ± 31 and 0.02 ± 0.02, respectively, showing a substantial difference with a p-value < 0.0001. The AntiHalluciNet-derived RSI could differentiate between the quality of the degraded denoised images, with measurement values of 0.27, 0.41, 0.48, and 0.52 for the 25%, 50%, 75%, and 100% mixing rates of the degradation component, which showed a higher differentiation potential compared with the SSIM values of 0.9603, 0.9579, 0.9490, and 0.9333. The RSI measurements from the residual images of the three DL denoising models showed a distinct distribution, being 0.28 ± 0.06, 0.21 ± 0.06, and 0.15 ± 0.03 for RED-CNN, CTformer, and ClariCT.AI, respectively. AntiHalluciNet has the potential to predict the structural components embedded in the residual noise from DL denoising models in low-dose CT. With AntiHalluciNet, it is feasible to audit the performance and behavior of DL denoising models in clinical environments where only residual noise images are available. Full article

Every year, millions of women across the globe are diagnosed with breast cancer (BC), an illness that is both common and potentially fatal. To provide effective therapy and enhance patient outcomes, it is essential to make an accurate diagnosis as soon as possible. In recent years, deep-learning (DL) approaches have shown great effectiveness in a variety of medical imaging applications, including the processing of histopathological images. Using DL techniques, the objective of this study is to recover the detection of BC by merging qualitative and quantitative data. Using deep mutual learning (DML), the emphasis of this research was on BC. In addition, a wide variety of breast cancer imaging modalities were investigated to assess the distinction between aggressive and benign BC. Based on this, deep convolutional neural networks (DCNNs) have been established to assess histopathological images of BC. In terms of the Break His-200×, BACH, and PUIH datasets, the results of the trials indicate that the level of accuracy achieved by the DML model is 98.97%, 96.78, and 96.34, respectively. This indicates that the DML model outperforms and has the greatest value among the other methodologies. To be more specific, it improves the results of localization without compromising the performance of the classification, which is an indication of its increased utility. We intend to proceed with the development of the diagnostic model to make it more applicable to clinical settings. Full article

There is no well-defined threshold for intra-operative blood transfusion (BT) in advanced epithelial ovarian cancer (EOC) surgery. To address this, we devised a Machine Learning (ML)-driven prediction algorithm aimed at prompting and elucidating a communication alert for BT based on anticipated peri-operative events independent of existing BT policies. We analyzed data from 403 EOC patients who underwent cytoreductive surgery between 2014 and 2019. The estimated blood volume (EBV), calculated using the formula EBV = weight × 80, served for setting a 10% EBV threshold for individual intervention. Based on known estimated blood loss (EBL), we identified two distinct groups. The Receiver operating characteristic (ROC) curves revealed satisfactory results for predicting events above the established threshold (AUC 0.823, 95% CI 0.76–0.88). Operative time (OT) was the most significant factor influencing predictions. Intra-operative blood loss exceeding 10% EBV was associated with OT > 250 min, primary surgery, serous histology, performance status 0, R2 resection and surgical complexity score > 4. Certain sub-procedures including large bowel resection, stoma formation, ileocecal resection/right hemicolectomy, mesenteric resection, bladder and upper abdominal peritonectomy demonstrated clear associations with an elevated interventional risk. Our findings emphasize the importance of obtaining a rough estimate of OT in advance for precise prediction of blood requirements. Full article

This study aimed to compare vascular involvement, hand functionality, and upper limb disability between Raynaud’s phenomenon participants and controls. Also, we analyzed the relationships between vascular impairment, mobility, and strength with disability in this Raynaud population. We conducted a case–control study with fifty-seven participants. We registered sociodemographic and clinical data; vascular variables (temperature, cold test, blood flow, and oxygen saturation); functional variables (pinch strength, range of motion), and disability (Shortened Disabilities of the Arm, Shoulder and Hand Questionnaire) (Q-DASH). Raynaud participants present more disability in all Q-DASH subscales, lower hands’ temperature pre and post cold test, decreased blood flow on radial artery, decreased ranges of motions at passive extension of index finger, and active flexion and extension of thumb than the healthy controls. The multivariate regression analysis showed that extension of the index finger, lateral pinch strength, and oxygen saturation were significantly associated with disability in RP, almost the 55% of the total variance on the upper limb, 27% at sports/arts, and 42% at work. Our findings suggest that RP has a disabling effect on the upper extremities and a practice of activities in people who suffer it. Also, disability in Raynaud seems to be more related with hand mobility and strength impairment than vascular injury. Full article

Salivary gland tumors (SGTs) are a relevant, highly diverse subgroup of head and neck tumors whose entity determination can be difficult. Confocal Raman imaging in combination with multivariate data analysis may possibly support their correct classification. For the analysis of the translational potential of Raman imaging in SGT determination, a multi-stage evaluation process is necessary. By measuring a sample set of Warthin tumor, pleomorphic adenoma and non-tumor salivary gland tissue, Raman data were obtained and a thorough Raman band analysis was performed. This evaluation revealed highly overlapping Raman patterns with only minor spectral differences. Consequently, a principal component analysis (PCA) was calculated and further combined with a discriminant analysis (DA) to enable the best possible distinction. The PCA-DA model was characterized by accuracy, sensitivity, selectivity and precision values above 90% and validated by predicting model-unknown Raman spectra, of which 93% were classified correctly. Thus, we state our PCA-DA to be suitable for parotid tumor and non-salivary salivary gland tissue discrimination and prediction. For evaluation of the translational potential, further validation steps are necessary. Full article

In this study, we evaluated the effectiveness of a single-dose oral pilocarpine administration on tear film (TF), as well as dry eye and dry mouth symptoms, in 53 eyes of 27 Sjögren syndrome (SS) patients who were experiencing dry mouth. To evaluate the changes in tear volume, a digital video-meniscometer was used to measure the radius of the lower central tear meniscus curvature (R, mm) of each eye at prior to the administration of 5 mg oral pilocarpine, and at 15 (R:(15)), 30 (R:(30)), and 60 (R:(60)) minutes after administration. The fluorescein breakup time (FBUT, seconds) and ocular and oral dryness symptoms were evaluated before and at 60 min after administration using a visual analogue scale (VAS, mm). A significant increase in R was observed at 15 and 30 min after administration compared to that at prior to administration. FBUT showed significant improvement at 60 min after administration, and the VAS score for ocular and oral dryness symptoms was found to have decreased significantly at 60 min after administration. A single-dose administration of 5 mg oral pilocarpine had a beneficial effect on TF, as well as on ocular and oral dryness symptoms, in patients with SS. Full article