Diagnostics

19 pages, 547 KiB

Open AccessReview

Updates on the Prevalence, Quality of Life, and Management of Chronic Cough in Interstitial Lung Diseases

by Natalia V. Trushenko, Olga A. Suvorova, Anna E. Schmidt, Svetlana Y. Chikina, Iuliia A. Levina, Baina B. Lavginova and Sergey N. Avdeev

Diagnostics 2025, 15(9), 1139; https://doi.org/10.3390/diagnostics15091139 (registering DOI) - 29 Apr 2025

Abstract

Background: Chronic cough is a common symptom in patients with interstitial lung diseases (ILDs), which significantly affects health-related quality of life (HRQoL). The prevalence of chronic cough varies from 30% to almost 90% in different ILDs, with the highest rate in patients with [...] Read more.

Background: Chronic cough is a common symptom in patients with interstitial lung diseases (ILDs), which significantly affects health-related quality of life (HRQoL). The prevalence of chronic cough varies from 30% to almost 90% in different ILDs, with the highest rate in patients with idiopathic pulmonary fibrosis. However, the pathophysiology of cough in ILDs remains poorly understood, with multiple proposed mechanisms contributing to its development. This knowledge gap complicates both clinical assessment and treatment, as current therapeutic strategies target general cough mechanisms rather than ILD-specific pathways. This review synthesizes existing data to clarify distinct cough mechanisms across ILD subtypes and identify opportunities for more targeted therapeutic strategies in this challenging patient population. Moreover, cough can be a clinical marker of disease severity and a predictor of ILD progression and transplant-free survival. Effective cough-specific therapeutic options that consider potential mechanisms, comorbidities, and individual effects on HRQoL are needed for cough associated with ILD. Therefore, the aim of this review was to analyze the prevalence, the impact on HRQoL, the pathophysiology, and the management of chronic cough in ILDs. Methods: We performed a comprehensive search in PubMed, MEDLINE, Embase, and the Cochrane Library. This review included randomized clinical trials, observational studies, systematic reviews, and meta-analyses in adults with chronic cough comparing ILD types. The following were excluded: commentaries, letters, case reports and case series, conference abstracts, and studies and publications lacking cough-specific outcomes. Results: Several approaches to reduce cough frequency and severity were described: antifibrotic agents, neuromodulators, opiates, inhaled local anesthetics, oxygen, speech therapy, and anti-reflux therapy. Some therapeutic approaches, such as oral corticosteroids and thalidomide, can cause significant side effects. Novel agents, such as P2X3 receptor antagonists, which are in phase III trials (COUGH-1/2), show promising results for refractory cough and may benefit ILD-related cough. Conclusions: Thus, a comprehensive assessment of cough is required for effective cough treatment in patients with ILDs considering possible mechanisms and individual impact on QoL. Full article

(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)

11 pages, 2320 KiB

Open AccessArticle

Head and Neck Manifestations of Tularemia in Tyrol (Austria): A Case Series

by Roland Hartl, Matthias Santer, Wegene Borena, Charles Schmit, Hannes Thomas Fischer, Daniel Dejaco, Benedikt Gabriel Hofauer and Teresa Bernadette Steinbichler

Diagnostics 2025, 15(9), 1138; https://doi.org/10.3390/diagnostics15091138 - 29 Apr 2025

Abstract

Background: Tularemia is a rare zoonosis caused by the bacterium Francisella tularensis. In the head and neck region, it can manifest as cervical lymphadenopathy. Despite intensive therapy with various antibiotics, there is often a prolonged medical course. Methods: In this paper, all [...] Read more.

Background: Tularemia is a rare zoonosis caused by the bacterium Francisella tularensis. In the head and neck region, it can manifest as cervical lymphadenopathy. Despite intensive therapy with various antibiotics, there is often a prolonged medical course. Methods: In this paper, all documented cases of tularemia in the head and neck region at the Medical University of Innsbruck (Austria) are analyzed and the results compared with the literature. A retrospective analysis of all patients diagnosed with tularemia at the Department of Otorhinolaryngology-Head and Neck Surgery, Medical University of Innsbruck (Austria), was performed. Tularemia was diagnosed using a serologic agglutination antibody test. Results: Thirteen patients with tularemia presented at the Department of Otorhinolaryngology-Head and Neck Surgery, Medical University of Innsbruck (Austria), between 2010 and 2024. In 10 patients (10/13; 77%), animal contact or an insect bite was the suspected cause. The mean time from the onset of the first symptoms to diagnosis was 36 ± 15 days. The therapy took a mean of 5 ± 2 months until the last follow-up. On average, the patients were treated with 4 ± 1 different antibiotics. The median duration of hospital stay was 13 days (range: 0–36). In addition, a median of 9 (range: 2–20) further outpatient check-ups with several neck ultrasounds were carried out. Also, 10 patients (10/13; 77%) received a diagnostic and/or therapeutic surgical intervention. Conclusions: Tularemia is a rare infectious disease with a prolonged diagnostic and therapeutic course. Screening for tularemia should be performed in cases of cervical lymphadenopathy, especially if empirical antibiotic treatment has been ineffective or if there is a specific medical history. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Treatment in Otolaryngology)

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13 pages, 735 KiB

Open AccessArticle

Comparison of Automated Point-of-Care Gram Stainer (PoCGS^®) and Manual Staining

by Goh Ohji, Kenichiro Ohnuma, Kei Furui Ebisawa, Mari Kusuki, Shunkichi Ikegaki, Hiroaki Ozaki, Reiichi Ariizumi, Masakazu Nakajima and Makoto Taketani

Diagnostics 2025, 15(9), 1137; https://doi.org/10.3390/diagnostics15091137 - 29 Apr 2025

Abstract

Background/Objectives: Gram staining is an essential diagnostic technique used for the rapid identification of bacterial and fungal infections, playing a pivotal role in clinical decision-making, especially in point-of-care (POC) settings. Manual staining, while effective, is labor-intensive and prone to variability, relying heavily on [...] Read more.

Background/Objectives: Gram staining is an essential diagnostic technique used for the rapid identification of bacterial and fungal infections, playing a pivotal role in clinical decision-making, especially in point-of-care (POC) settings. Manual staining, while effective, is labor-intensive and prone to variability, relying heavily on the skill of laboratory personnel. Current automated Gram-staining systems are primarily designed for high-throughput laboratory environments, limiting their feasibility in decentralized healthcare settings such as emergency departments and rural clinics. This study aims to introduce and evaluate the Point-of-Care Gram Stainer (PoCGS^®), a compact, automated device engineered for single-slide processing, addressing challenges related to portability, standardization, and efficiency in POC applications. Methods: The PoCGS^® device was developed to emulate expert manual staining techniques through features such as methanol fixation and programmable reagent application. A comparative evaluation was performed using 40 urine samples, which included both clinical and artificial specimens. These samples were processed using PoCGS^®, manual staining by skilled experts, and manual staining by unskilled personnel. The outcomes were assessed based on microbial identification concordance, the staining uniformity, presence of artifacts, and agreement with the culture results. Statistical analyses, including agreement rates and quality scoring, were conducted to compare the performance of PoCGS^® against manual staining methods. Results: PoCGS^® achieved a 100% concordance rate with expert manual staining in terms of microbial identification, confirming its diagnostic accuracy. However, staining quality parameters such as the uniformity and presence of artifacts showed statistically significant differences when compared to skilled and unskilled personnel. Despite these limitations, PoCGS^® demonstrated a comparable performance regarding artifact reduction and agreement with the culture results, indicating its potential utility in POC environments. Challenges such as fixed processing times and limited adaptability to varying specimen characteristics were identified as areas for further improvement. Conclusions: The study findings suggest that PoCGS^® is a reliable and valuable tool for microbial identification in POC settings, with a performance comparable to skilled manual staining. Its compact design, automation, and ease of use make it particularly beneficial for resource-limited environments. Although improvements in staining uniformity and background clarity are required, PoCGS^® has the potential to standardize Gram staining protocols and improve diagnostic turnaround times. Future developments will focus on optimizing staining parameters and expanding its application to other clinical sample types, ensuring robustness and broader usability in diverse healthcare settings. Full article

(This article belongs to the Section Diagnostic Microbiology and Infectious Disease)

18 pages, 1739 KiB

Open AccessArticle

Dermatoscopic Patterns in Mycosis Fungoides: Observations from a Case-Series Retrospective Analysis and a Review of the Literature

by Corrado Zengarini, Federica Tugnoli, Alessio Natale, Martina Mussi, Giacomo Clarizio, Claudio Agostinelli, Elena Sabattini, Alberto Corrà, Bianca Maria Piraccini and Alessandro Pileri

Diagnostics 2025, 15(9), 1136; https://doi.org/10.3390/diagnostics15091136 - 29 Apr 2025

Abstract

Background: Dermoscopy, a non-invasive diagnostic technique, is being increasingly used to evaluate cutaneous T-cell lymphomas such as mycosis fungoides (MF) and Sézary syndrome (SS). However, its diagnostic accuracy and role in staging remain underexplored. Objective: This study aimed to assess the dermoscopic patterns [...] Read more.

Background: Dermoscopy, a non-invasive diagnostic technique, is being increasingly used to evaluate cutaneous T-cell lymphomas such as mycosis fungoides (MF) and Sézary syndrome (SS). However, its diagnostic accuracy and role in staging remain underexplored. Objective: This study aimed to assess the dermoscopic patterns in MF and SS, correlating the findings with the disease stage and lesion type to evaluate dermoscopy’s diagnostic utility. Methods: A retrospective, monocentric analysis was conducted on patients with histologically confirmed MF or SS. Dermoscopic images were evaluated for vascular patterns, pigmentation, scaling, and keratin plugs. The statistical analysis assessed the correlations between these dermoscopic features and the TNMB staging and lesion type. A literature review was also performed to contextualize the findings, focusing on studies describing dermoscopic features in MF based on retrospective, prospective, and cross-sectional data. Results: The study included 30 patients with histologically confirmed MF or SS (19 males and 11 females; mean age: 64.5 years). The dermoscopic evaluation revealed that all the lesions were pigment-free, with vascular structures as the predominant feature. Linear vessels (40%) and serpentine vessels (13.3%) were the most frequently observed, along with dotted vessels (36.7%) and clods (10%). The vessel distribution was diffuse (40%) or perifollicular (36.7%), with a predominant red (56.7%) or orange (40%) background. Scaling was present in 76.7% of cases, either diffuse (40%) or perifollicular (36.7%), and keratin plugs were detected in 40% of the lesions. No statistically significant correlations were found between dermoscopic features and the TNMB stage or lesion type (p > 0.05). A cluster analysis identified two patient groups with differing vascular and scaling features but no clear association with disease stage. The literature review identified studies that commonly reported features in MF dermoscopy, including fine, short linear vessels and an orange-yellow background, particularly in early-stage MF. Spermatozoa-like structures have been marked as highly specific for diagnosing MF. Some studies also suggested a transition in vascular morphology from linear vessels in early disease to branched vessels and ulceration in advanced stages. Conclusions: Our results showed some vascular patterns have some potential but lack sensitivity for staging MF and SS. The terminology used and the reproducibility of our results compared to those reported in the literature showed little consistency, with none of our cases showing spermatozoa-like structures. Moreover, the same issues with the use of non-reproducible terminology were noted across the studies because it is not standardized and due to different incongruent dermoscopic patterns. More significant prospective studies with standardized descriptors and larger groups are needed to refine its diagnostic and staging utility. Full article

(This article belongs to the Special Issue Future Concepts in Dermatologic Diagnosis)

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5 pages, 3817 KiB

Open AccessInteresting Images

Non-Articular Osseous Sarcoidosis: A Rare Case of Active Sarcoidosis with Progressive Lung Lesions and Normal Inflammation Biomarkers

by Jing Zhang, Yu Hu, Peixin Dong, Hefang Guo, Lixia Huang, Lili Chen and Yanbin Zhou

Diagnostics 2025, 15(9), 1135; https://doi.org/10.3390/diagnostics15091135 - 29 Apr 2025

Abstract

Sarcoidosis is a rare multisystem inflammatory disease characterized by non-necrotizing granulomas, typically affecting the lungs, lymph nodes, skin, and bones. Due to its extreme clinical heterogeneity, diagnosis remains challenging. Within the skeletal system, the thoracic spine, ankles, and knees are the most commonly [...] Read more.

Sarcoidosis is a rare multisystem inflammatory disease characterized by non-necrotizing granulomas, typically affecting the lungs, lymph nodes, skin, and bones. Due to its extreme clinical heterogeneity, diagnosis remains challenging. Within the skeletal system, the thoracic spine, ankles, and knees are the most commonly involved joints. We report a rare case of non-articular osseous sarcoidosis with progressive pulmonary lesions and persistently normal inflammatory biomarkers (ACE, CRP, ESR, IL-2, and TNF-α) that required differentiation from metastatic bone tumors and tuberculosis. Prior to presentation at our hospital, the patient did not respond to six months of anti-tuberculosis treatment and one month of systemic glucocorticoid therapy in three other hospitals. Based on lung and bone biopsies, she was finally diagnosed as having active sarcoidosis in our hospital. Despite 3 months of prednisone, pulmonary consolidation and bone lesions persisted until methotrexate was added. This case highlights the preference of combined glucocorticoid and methotrexate therapy for sarcoidosis with atypical osseous involvement and normal biomarkers, underscoring the urgent need for novel diagnostic tools to mitigate misdiagnosis. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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18 pages, 924 KiB

Open AccessArticle

Clinical Characteristics and Prognosis of Patients with End-Stage Hypertrophic Cardiomyopathy from a Tertiary Center Cohort: Systolic Dysfunction and Advanced Diastolic Dysfunction

by Andreea Sorina Afana, Robert Daniel Adam, Sebastian Militaru, Sebastian Onciul, Oana Andrei, Adela Chirita Emandi, Maria Puiu, Constantin Militaru and Ruxandra Jurcut

Diagnostics 2025, 15(9), 1134; https://doi.org/10.3390/diagnostics15091134 - 29 Apr 2025

Abstract

Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder marked by myocardial hypertrophy, leading to diastolic and systolic dysfunction and heart failure. Traditionally, the burn-out stage is defined by systolic dysfunction, but we propose expanding its definition to include advanced diastolic dysfunction. Methods [...] Read more.

Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder marked by myocardial hypertrophy, leading to diastolic and systolic dysfunction and heart failure. Traditionally, the burn-out stage is defined by systolic dysfunction, but we propose expanding its definition to include advanced diastolic dysfunction. Methods: We retrospectively analyzed HCM patients (2004–2023) with either systolic dysfunction (left ventricular ejection fraction [LVEF] < 50%) or advanced diastolic dysfunction (preserved LVEF with left atrial enlargement and elevated filling pressures: E/A ≥ 2 or E/e′ ≥ 14). Both subgroups were included under the term “end-stage HCM” and compared to HCM controls with preserved LVEF and impaired relaxation. Results: Of 696 HCM patients, 94 had end-stage HCM (23 with systolic dysfunction, 71 with advanced diastolic dysfunction). Median age was 56.5 years, and 55.3% were male. End-stage HCM patients were more symptomatic at follow-up than controls (91.5% vs. 75.0%, p-value = 0.006), with higher rates of dyspnea and advanced heart failure (38.3% vs. 6.3%, p-value < 0.001). Advanced diastolic dysfunction was associated with a more symptomatic profile (p-value = 0.013) and a high annual mortality rate (2.34%, p = 0.014). Male sex, older age, lower LVEF, and higher E/A predicted systolic dysfunction. Conclusions: Advanced diastolic dysfunction represents an alternative progression pathway in burn-out HCM, requiring distinct management strategies alongside systolic dysfunction. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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9 pages, 213 KiB

Open AccessArticle

Safety, Adequacy, and Accuracy of Transvaginal Ultrasound-Guided Tru-Cut Biopsy of Gynaecologic Tumours: A Retrospective Single-Centre Study

by Munachiso Iheme Ndukwe, Dominik Karasek, Denisa Pohanková, Ivan Praznovec, Petra Bretova, Martin Stepan, Dominik Habes, Jan Laco, Akaninyene Eseme Ubom, Milan Vosmik and Igor Sirak

Diagnostics 2025, 15(9), 1133; https://doi.org/10.3390/diagnostics15091133 - 29 Apr 2025

Abstract

Objective: To evaluate the safety, adequacy, and accuracy of tru-cut biopsy of gynaecologic tumours in a population of Czech women. Methods: A four-year retrospective study of ultrasound-guided tru-cut biopsy of gynaecologic tumours was conducted in the Department of Obstetrics and Gynaecology, Charles University, [...] Read more.

Objective: To evaluate the safety, adequacy, and accuracy of tru-cut biopsy of gynaecologic tumours in a population of Czech women. Methods: A four-year retrospective study of ultrasound-guided tru-cut biopsy of gynaecologic tumours was conducted in the Department of Obstetrics and Gynaecology, Charles University, Hradec Kralove, Czech Republic. Results: One hundred and four women with gynaecologic tumours underwent transvaginal tru-cut biopsy within the study period. The most common indication for tru-cut biopsy in more than one-half of the women was a suspicion of malignancy/inability to exclude malignancy (59, 56.7%). Most of the tumours were malignant on histopathological examination (71, 68.3%), with advanced ovarian cancer being the most common type of malignancy (43/71, 60.6%). The overall adequacy and accuracy rates of tru-cut biopsy were 93.3% and 93.3%, respectively. Most of the inadequate samples were obtained from overweight and obese women (5/7, 71.4%), with only one biopsy sample taken in the majority of the inadequate biopsies (5/7, 71.4%). Accuracy was higher for malignant than benign tumours (97.7% vs. 82.4%). For malignant tumours, accuracy was highest for advanced ovarian cancers (33/40, 82.5%). Only one case was complicated by bleeding, giving an overall complication rate of 1%. The complicated biopsy was taken by a gynae-oncology trainee. Conclusions: Tru-cut biopsy is a cost-effective and safe preoperative diagnostic modality for patients with gynaecologic tumours, offering high adequacy and accuracy. It is particularly useful in patients with advanced ovarian cancer, most of whom present late with inoperable tumours that contraindicate primary surgery. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Gynecological Oncology)

12 pages, 3622 KiB

Open AccessArticle

Assessing Supraspinatus Tendon Elasticity at Different Locations and Loading Conditions Using Ultrasound Shear-Wave Elastography in Young Healthy Population

by Arash Azhideh, Peyman Mirghaderi, Sara Haseli, William D. Lack, Karen C. Takatani, Liisa C. Hammer, Kevin F. Malik, Hannah Tifft, Kyle Griffith and Majid Chalian

Diagnostics 2025, 15(9), 1132; https://doi.org/10.3390/diagnostics15091132 - 29 Apr 2025

Abstract

Objective: This prospective study aims to investigate the feasibility of Shear-Wave Elastography (SWE) for assessing the mechanical properties of the normal supraspinatus tendon and describing the elastographic features of the supraspinatus tendon under different loading conditions and positions. Methods: Twenty healthy [...] Read more.

Objective: This prospective study aims to investigate the feasibility of Shear-Wave Elastography (SWE) for assessing the mechanical properties of the normal supraspinatus tendon and describing the elastographic features of the supraspinatus tendon under different loading conditions and positions. Methods: Twenty healthy volunteers (10 males and 10 females, aged 18–25 years) were examined by SWE using an 18-4 MHz linear array transducer. The elasticity of the supraspinatus tendon of the dominant hand was measured at three distinct locations: the insertion, middle, and myotendinous junction of the tendon. These measurements were taken under various conditions, including non-loading and the application of 5, 10, and 20 lb forces at five different positions. Results: The average elasticity was 69.2 ± 26.5 kilopascals across all positions and forces, with the middle part of the tendon exhibiting the highest elasticity (72.6 ± 6.2 kPa). An ascending trend in elasticity was observed by increasing the applied load, and the highest elasticity was observed with a 20 lb load. Determining the normal elasticity of the tendon is an important clinical implication, as understanding what is normal is essential for identifying pathological conditions. Conclusions: SWE is a feasible and promising technology for the collection of data on how the supraspinatus tendon behaves under loading conditions. There is a need for further study to better understand tendon response to activity and resultant injuries. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Musculoskeletal Diseases and Bone Fracture Risk)

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13 pages, 1511 KiB

Open AccessArticle

The Clinical Significance of Abnormal Electroencephalography (EEG) Patterns in Patients with Neuropsychiatric Disorders Due to Anti-NMDA Receptor Encephalitis: A Comparative Study

by Alvaro Moreno-Avellán, Arely Juarez-Jaramillo, Maria del Carmen Fernandez Gonzalez-Aragon, Gerardo Quiñones-Pesqueira, Luz Maria Pineda-Centeno, Mariana Espinola-Nadurille, Victoria Martinez-Angeles, Francisco Martinez-Carrillo, Veronica Rivas-Alonso, Daniel San-Juan, Jose Flores-Rivera and Jesus Ramirez-Bermudez

Diagnostics 2025, 15(9), 1131; https://doi.org/10.3390/diagnostics15091131 - 29 Apr 2025

Abstract

Background: Anti-NMDA receptor encephalitis is an autoimmune disease characterized by severe neuropsychiatric disturbances, often misdiagnosed as a primary psychiatric disorder. Early diagnosis is crucial, as delayed immunotherapy is associated with worse outcomes. Electroencephalography (EEG) is a widely available tool for detecting abnormalities that [...] Read more.

Background: Anti-NMDA receptor encephalitis is an autoimmune disease characterized by severe neuropsychiatric disturbances, often misdiagnosed as a primary psychiatric disorder. Early diagnosis is crucial, as delayed immunotherapy is associated with worse outcomes. Electroencephalography (EEG) is a widely available tool for detecting abnormalities that may aid in early detection of cases that should undergo a thorough approach. Although EEG has high sensitivity, its specificity remains a challenge. Methods: This case-control study was carried out in the National Institute of Neurology and Neurosurgery of Mexico and included 241 patients with acute or subacute neuropsychiatric disturbances, raising the suspicion of autoimmune encephalitis and leading to the determination of NMDA receptor antibodies in the cerebrospinal fluid (CSF). EEG patterns were analyzed to determine the frequency of abnormal findings and their diagnostic value. Results: 140 patients were diagnosed as having definite anti-NMDA receptor encephalitis, whereas 101 had a negative determination of NMDA receptor antibodies. Psychosis was very frequent in both groups. However, severe cognitive dysfunction and catatonia were significantly more frequent in anti-NMDA receptor encephalitis patients. EEG abnormalities were significantly more frequent in patients with anti-NMDA receptor encephalitis patients (87.2% vs. 61.2%, p < 0.001). Diffuse slowing (75.7% vs. 46.6%, p < 0.001) and the extreme delta brush pattern (8.8% vs. 0%, OR = 20.6, p = 0.002) were significantly associated with anti-NMDA receptor encephalitis. Logistic regression analysis confirmed that an abnormal EEG remained strongly associated with anti-NMDA receptor encephalitis after adjusting for confounders. Conclusions: EEG abnormalities, particularly diffuse slowing and the extreme delta brush pattern, provide important diagnostic clues in patients with a clinical suspicion of anti-NMDA receptor encephalitis. While EEG has high sensitivity, its specificity is enhanced by recognizing distinct patterns. These findings support the integration of EEG into diagnostic algorithms to guide early detection and management of autoimmune encephalitis. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Management of Neuropsychiatric Disorders)

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14 pages, 4069 KiB

Open AccessArticle

Accuracy of Transverse Cerebellar Diameter in Estimating Gestational Age in the Second and Third Trimester: A Prospective Study in Saudi Arabia

by Awadia Gareeballah, Sultan Abdulwadoud Alshoabi, Ashwaq Mohammed Alharbi, Mashael Hisham Alali, Wed Mubarak Alraddadi, Fadwa Mohammed Al-Ahmadi, Reem Mustafa Dwaidy, Rahaf Alamri, Wessal Abdulkarim Alkhoudair, Walaa Alsharif, Maisa Elzaki, Amirah Faisal Alsaedi, Moawia Gameraddin, Osama Mohammed Abdulaal and Mohammed Adam

Diagnostics 2025, 15(9), 1130; https://doi.org/10.3390/diagnostics15091130 - 29 Apr 2025

Abstract

Background: Failure to accurately estimate gestational age remains an important dilemma for optimal evidence-based antenatal care. Currently, when the last menstrual period (LMP) is unknown, ultrasonography measurement is the best method for estimating gestational age (GA). This study aims to assess the feasibility [...] Read more.

Background: Failure to accurately estimate gestational age remains an important dilemma for optimal evidence-based antenatal care. Currently, when the last menstrual period (LMP) is unknown, ultrasonography measurement is the best method for estimating gestational age (GA). This study aims to assess the feasibility and accuracy of ultrasonography measurement of the transverse cerebellar diameter (TCD) to deduce fetal GA after 13 weeks of gestation. Methods: A prospective study was conducted on 384 normal singleton pregnancies. Demographic information and biometric measurements, including TCD, were collected using a data sheet. The data were then analyzed using SPSS version 27, DATAtab, and the R program. Results: The study found a strong significant association between GA based on TCD and the LMP, GA based on femur length (FL), GA based on biparietal diameter (BPD), GA based on abdominal circumference (AC), and GA based on the average gestational age (AVG) (r = 0.976, 0.970, 0.966, 0.968, and 0.984, respectively, p < 0.001). Furthermore, there was perfect agreement between GA estimated using TCD and GA based on LMP, with a mean difference of 0.41 weeks and upper and lower limits of agreement of −1.43 to 2.26 weeks. Conclusions: Ultrasonography measurements of the TCD accurately predict gestational age with excellent concordance with GA based on the LMP, FL, AC, and BPD. TCD can be used as a reliable estimator of GA in the second and third trimesters of pregnancy with the benefit of its brain-sparing effect in fetuses of fetal intrauterine growth restriction pregnancies. Combining TCD with FL, BPD, and AC provides the most accurate method of GA prediction. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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11 pages, 625 KiB

Open AccessArticle

Association of the Triglyceride–Glucose Index During the First Trimester of Pregnancy with Adverse Perinatal Outcomes

by Guillermo Gurza, Nayeli Martínez-Cruz, Ileana Lizano-Jubert, Lidia Arce-Sánchez, Blanca Vianey Suárez-Rico, Guadalupe Estrada-Gutierrez, Araceli Montoya-Estrada, José Romo-Yañez, Juan Mario Solis-Paredes, Johnatan Torres-Torres, Isabel González-Ludlow, Ameyalli Mariana Rodríguez-Cano, Maricruz Tolentino-Dolores, Otilia Perichart-Perera and Enrique Reyes-Muñoz

Diagnostics 2025, 15(9), 1129; https://doi.org/10.3390/diagnostics15091129 - 29 Apr 2025

Abstract

Background/Objectives: Insulin resistance during pregnancy is a key factor underlying gestational diabetes mellitus (GDM) and other adverse perinatal outcomes (APOs). While traditional markers, such as HOMA-IR, are used to evaluate insulin resistance, they may be inaccessible in resource-limited settings. The triglyceride–glucose (TyG) [...] Read more.

Background/Objectives: Insulin resistance during pregnancy is a key factor underlying gestational diabetes mellitus (GDM) and other adverse perinatal outcomes (APOs). While traditional markers, such as HOMA-IR, are used to evaluate insulin resistance, they may be inaccessible in resource-limited settings. The triglyceride–glucose (TyG) index has emerged as a practical alternative. This study aimed to assess whether or not a TyG index > 8.6 during the first trimester of pregnancy is associated with an increased risk of APOs, including GDM, preeclampsia, and other maternal and neonatal complications. Methods: A prospective cohort study was conducted involving 333 pregnant women in Mexico City, divided into two groups: Group 1 (TyG index > 8.6, n = 153) and Group 2 (TyG index ≤ 8.6, n = 180). Primary outcomes included gestational diabetes mellitus (GDM), hypertensive disorders of pregnancy, preeclampsia, preterm birth, cesarean section, and large-for-gestational-age (LGA) and small-for-gestational-age (SGA) neonates. Logistic regression models were used to calculate the adjusted relative risk (aRR) and 95% confidence intervals (CIs), adjusting for maternal age, pregestational weight, and body mass index (BMI). Results: Women with a TyG index > 8.6 had a significantly higher pregestational weight and BMI than those with a TyG index ≤ 8.6. Group 1 demonstrated a higher risk of GDM (RR 2.05; 95% CI: 1.23–3.41) and preeclampsia (RR 2.15; 95% CI: 1.10–4.21). After adjusting for maternal age, pregestational weight, and BMI, these associations remained significant: GDM (aRR 1.87; 95% CI: 1.0–2.5) and preeclampsia (aRR 2.18; 95% CI: 1.1–5.0). No significant associations were found between an elevated TyG index and other APOs, including LGA, SGA, preterm birth, or cesarean delivery. Conclusions: A first-trimester TyG index > 8.6 is significantly associated with an increased risk of GDM and preeclampsia, highlighting its potential as a predictive marker for adverse perinatal outcomes. These findings underscore the utility of the TyG index as a practical, cost-effective tool for early risk stratification, particularly in resource-limited settings. Further multi-center research is needed to validate these results and refine population-specific thresholds. Full article

(This article belongs to the Special Issue Advancements in Maternal–Fetal Medicine)

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11 pages, 3098 KiB

Open AccessCase Report

Vertebral Metastasis in a Bronchial Carcinoid: A Rare Case Report with More than 3-Year Follow-Up and Review of the Literature

by Carlo Biz, Maria Grazia Rodà, Fabiana Mori, Lorenzo Costa, Joseph Domenico Gabrieli, Francesco Causin and Pietro Ruggieri

Diagnostics 2025, 15(9), 1128; https://doi.org/10.3390/diagnostics15091128 - 28 Apr 2025

Abstract

Background: Skeletal metastases from carcinoid tumours are extremely rare. Their correct diagnosis is a challenging problem for clinicians and pathologists, with important clinical implications for patients. In most cases, examination for the possible presence of skeletal metastases is initiated only when patients present [...] Read more.

Background: Skeletal metastases from carcinoid tumours are extremely rare. Their correct diagnosis is a challenging problem for clinicians and pathologists, with important clinical implications for patients. In most cases, examination for the possible presence of skeletal metastases is initiated only when patients present symptoms suggestive of skeletal metastases. Case presentation: In this paper, the authors present the case of a middle-aged woman suffering from back pain due to a bronchial carcinoid that metastasised to the spine. We managed skeletal metastases with vertebroplasty and achieved excellent results and the complete remission of symptoms six months after the procedure. Conclusions: The relevance of this case report is that it highlights the importance of correctly diagnosing and treating these rare lesions to improve the quality of life of metastatic oncologic patients. Full article

(This article belongs to the Special Issue Diagnosis and Management of Thoracic Diseases)

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23 pages, 887 KiB

Open AccessArticle

Evaluating AI-Based Mitosis Detection for Breast Carcinoma in Digital Pathology: A Clinical Study on Routine Practice Integration

by Clara Simmat, Loris Guichard, Stéphane Sockeel, Nicolas Pozin, Rémy Peyret, Magali Lacroix-Triki, Catherine Miquel, Arnaud Gauthier, Marie Sockeel and Sophie Prévot

Diagnostics 2025, 15(9), 1127; https://doi.org/10.3390/diagnostics15091127 - 28 Apr 2025

Abstract

Background/Objectives: An accurate assessment of mitotic activity is crucial in the histopathological diagnosis of invasive breast carcinoma. However, this task is time-consuming and labor-intensive, and suffers from high variability between pathologists. Methods: To assist pathologists in routine diagnostics, we developed an artificial [...] Read more.

Background/Objectives: An accurate assessment of mitotic activity is crucial in the histopathological diagnosis of invasive breast carcinoma. However, this task is time-consuming and labor-intensive, and suffers from high variability between pathologists. Methods: To assist pathologists in routine diagnostics, we developed an artificial intelligence (AI)-based tool that uses whole slide images (WSIs) to detect mitoses, identify mitotic hotspots, and assign mitotic scores according to the Elston and Ellis grading system. To our knowledge, this study is the first to evaluate such a tool fully integrated into the pathologist’s routine workflow. Results: A clinical study evaluating the tool’s performance on routine data clearly demonstrated the value of this approach. With AI assistance, pathologists achieved a greater accuracy and reproducibility in mitotic scoring, mainly because the tool automatically and consistently identified hotspots. Inter-observer reproducibility improved significantly: Cohen’s kappa coefficients increased from 0.378 and 0.457 (low agreement) without AI to 0.629 and 0.726 (moderate agreement) with AI. Conclusions: This preliminary clinical study demonstrates, for the first time in a routine diagnostic setting, that AI can reliably identify mitotic hotspots and enhance pathologists’ performance in scoring mitotic activity on breast cancer WSIs. Full article

(This article belongs to the Special Issue Artificial Intelligence Advances for Medical Computer-Aided Diagnosis—2nd Edition)

15 pages, 1670 KiB

Open AccessArticle

Improvement in Adenoma Detection Rate with Distal Attachment Device Endo-Wing™-Assisted Colonoscopy: A Randomized Control Trial

by Nabil Mohammad Azmi, Prem Kumar Gopal, Muhammad Irfan Abdul Jalal, Mazian Ismail and Farizal Fadzil

Diagnostics 2025, 15(9), 1126; https://doi.org/10.3390/diagnostics15091126 - 28 Apr 2025

Abstract

Aim: Endo-Wing™ is a soft silicone device with six wing-like projections attached at the end of the colonoscope that provides superior visualization by flattening the colonic fold and helps to maintain a central view of the colonoscope during withdrawal. This study aims to [...] Read more.

Aim: Endo-Wing™ is a soft silicone device with six wing-like projections attached at the end of the colonoscope that provides superior visualization by flattening the colonic fold and helps to maintain a central view of the colonoscope during withdrawal. This study aims to compare the adenoma detection rate (ADR) between standard colonoscopy and Endo-Wing™-assisted colonoscopy. Methods: This is a single-center, single-blind, parallel-group, randomized, actively controlled, exploratory clinical trial conducted between July 2019 and April 2020. Participants aged 45 and above who were symptomatic of colorectal cancer (CRC) or with a history of adenoma and under active surveillance were included. Exclusion criteria included colonic strictures, tumors, active colitis, a previous history of polyposis syndrome, colostomy/ileostomy, or a BPPS score of 0. Participants were subsequently randomized to receive standard colonoscopy (n = 96) or Endo-Wing™-assisted colonoscopy (n = 96) at a 1:1 ratio using a central block randomization method with varying block sizes. The primary endpoint was the ADR, and the differences between the two groups were evaluated using univariable statistical methods. Results: The ADR, the number of adenomas, and the size of adenomas in the Endo-Wing™-assisted colonoscopy group were significantly higher compared to standard colonoscopy (p = 0.005, 0.035, and 0.035, respectively). Cecal intubation rates were similar in both groups (p > 0.999). The proportions of colonoscopy requiring increased sedation and standard sedation were similar in both groups (p = 0.613). No adverse effects of bleeding, perforation, and device dislodgement were reported in both groups. Conclusions: This study concludes that Endo-Wing™-assisted colonoscopy improves the ADR compared to standard colonoscopy. Full article

(This article belongs to the Special Issue Advancements in Diagnosis of Colorectal Cancer)

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12 pages, 799 KiB

Open AccessArticle

Increased Musculoskeletal Surgery Rates During Diagnostic Delay in Psoriatic Arthritis: A Retrospective Cohort Study

by Servet Yolbas, İlyas Gündüz, Mahmut Kara, Emrah Çay, Gülşah Yamancan, Nevra Yalçın, Elif İnanç, Sezgin Zontul and Muhammed Köroğlu

Diagnostics 2025, 15(9), 1125; https://doi.org/10.3390/diagnostics15091125 - 28 Apr 2025

Abstract

Background/Objectives: Delayed diagnosis in psoriatic arthritis (PsA) is associated with significant health consequences. We hypothesize that musculoskeletal (MSK) surgery rates may be higher during the diagnostic delay period. This study aimed to compare the frequency of MSK surgeries in PsA patients during [...] Read more.

Background/Objectives: Delayed diagnosis in psoriatic arthritis (PsA) is associated with significant health consequences. We hypothesize that musculoskeletal (MSK) surgery rates may be higher during the diagnostic delay period. This study aimed to compare the frequency of MSK surgeries in PsA patients during the period of diagnostic delay with the frequency of MSK surgeries post-diagnosis. Methods: This retrospective cohort study included PsA patients who fulfilled CASPAR criteria and were followed up on in our outpatient clinic. The pre-diagnosis symptomatic period was considered as the period of diagnostic delay. Data on MSK surgeries were obtained from patient records. The annual number of surgeries was calculated separately for the diagnostic delay and post-diagnosis periods. Results: The study included 84 PsA patients. The mean diagnostic delay in PsA patients was 7.49 years. During this period, 27.4% of patients underwent at least one MSK surgery. The mean annual number of MSK surgeries was significantly higher during the diagnostic delay period compared to the post-diagnosis period (Z = −3.18, p = 0.001, r = 0.35). Conclusions: Following PsA diagnosis, a reduction in MSK surgery rates was observed compared to during the diagnostic delay period. This suggests that inflammatory symptoms in PsA patients, which could have been managed with medical therapy, may have led to avoidable MSK surgeries. These findings highlight the potential for early diagnosis to reduce the rate of musculoskeletal surgery and associated healthcare costs. Full article

(This article belongs to the Special Issue Orthopedics and the Musculoskeletal System: Diagnosis, Prognosis, and Mechanisms)

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11 pages, 1981 KiB

Open AccessArticle

Validation of an Automated Cell Counter Method for HLA-DR and CD3 Expression in Cells Obtained from Low Volume Human Tears

by Carmen Ciavarella, Annalisa Astolfi, Chiara Coslovi, Michele Potenza, Gianandrea Pasquinelli, Luigi Fontana and Piera Versura

Diagnostics 2025, 15(9), 1124; https://doi.org/10.3390/diagnostics15091124 - 28 Apr 2025

Abstract

Background/Objectives: Tears are a promising source of biomarkers reflecting both ocular and systemic conditions. However, small sample volumes and low cell yields pose technical challenges in analytical workflows. This study aimed to evaluate the feasibility of quantifying total cell counts and characterizing [...] Read more.

Background/Objectives: Tears are a promising source of biomarkers reflecting both ocular and systemic conditions. However, small sample volumes and low cell yields pose technical challenges in analytical workflows. This study aimed to evaluate the feasibility of quantifying total cell counts and characterizing HLA-DR and CD3 expression in tear-derived cells using an automated cell counter with fluorescence detection (Countess 3 FL). Methods: Tears were collected from 31 patients, centrifuged and the resulting pellet was incubated with HLA-DR and CD3 antibodies, markers of inflammation and T lymphocytes, respectively. Data obtained from Countess 3 FL were compared with conventional flow cytometry and immunofluorescence. For technical performance analysis, precision and reproducibility of cell count and staining were measured. For method validation, an in vitro model of hyperosmolar stress was assessed by culturing conjunctival epithelial cells (CCL20.2) with 350 or 450 mOsm NaCl. Results: The total cell yield in each tear sample correlated with the tear surnatant volume, in a range of 1–40μL (mean total cell number: 1.3 ± 1.1 × 10⁴, correlation analysis with tear volume: r = 0.47, p < 0.05). HLA-DR and CD3 were detected in all samples, with a mean value, respectively, of 43.6% (±21.0) and 25.0% (±15.0) intensity. Data were comparable to those obtained from standard flow cytometry analysis.HLA-DR increase in CCL20.2 exposed to hyperosmolar stress was recorded using Countess 3FL reading, confirming the detection capacity of the proposed method. Conclusions: The automated cell counter can provide HLA-DR and CD3 quantification in tear cell samples, despite the high variability and the low volume availability of tear samples. Method standardization and technical improvements are necessary to strengthen this application in the clinical setting. Full article

(This article belongs to the Section Clinical Laboratory Medicine)

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27 pages, 700 KiB

Open AccessReview

Inflammatory Signatures and Biological Markers in Platelet-Rich Plasma Therapy for Hair Regrowth: A Comprehensive Narrative Analysis

by Adelina Vrapcea, Cătălina Gabriela Pisoschi, Eleonora Daniela Ciupeanu-Calugaru, Emil-Tiberius Traşcă, Cristina Violeta Tutunaru, Patricia-Mihaela Rădulescu and Dumitru Rădulescu

Diagnostics 2025, 15(9), 1123; https://doi.org/10.3390/diagnostics15091123 - 28 Apr 2025

Abstract

Context: Hair loss (alopecia) presents both aesthetic and psychological challenges, significantly impacting quality of life. Platelet-rich plasma (PRP) therapy has gained prominence due to its ability to deliver growth factors and modulate local inflammation. However, uncertainties remain regarding the mechanisms through which systemic [...] Read more.

Context: Hair loss (alopecia) presents both aesthetic and psychological challenges, significantly impacting quality of life. Platelet-rich plasma (PRP) therapy has gained prominence due to its ability to deliver growth factors and modulate local inflammation. However, uncertainties remain regarding the mechanisms through which systemic inflammation, oxidative stress, and coagulation factors influence PRP’s efficacy. Objectives: This narrative review explores the impact of inflammatory biomarkers (e.g., NLR, PLR, IL-6, TNF-α) and growth factors (VEGF, TGF-β, FGF) on hair regeneration in PRP therapy. It discusses how oxidative stress and vitamin status (B12, D, folate) correlate with therapeutic success. Additionally, it examines the PRP preparation protocols and combined approaches (microneedling, minoxidil, LLLT) that may amplify clinical responses. Results: The synthesized data highlight that elevated systemic inflammation (increased NLR/PLR values) can limit PRP’s effectiveness, while the regulation of inflammation and optimization of antioxidant status can enhance hair density and thickness. Integrating vitamins and an anti-inflammatory diet into the therapeutic protocol is associated with more stable hair growth and reduced adverse reactions. The variability in PRP’s preparation and activation methods remains a major obstacle, underscoring the need for standardization. Conclusions: Integrating inflammatory biomarkers with oxidative stress indicators provides fresh insights for tailoring PRP therapies in alopecia. Multimodal treatment strategies combined with collaborative multicenter studies—in which biological markers are embedded within rigorous protocols—could establish standardized methodologies and significantly enhance the treatment success. Full article

(This article belongs to the Special Issue Advances in the Diagnosis of Skin Disease)

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12 pages, 1273 KiB

Open AccessArticle

Beyond SOFA and APACHE II, Novel Risk Stratification Models Using Readily Available Biomarkers in Critical Care

by Jihyuk Chung, Joonghyun Ahn and Jeong-Am Ryu

Diagnostics 2025, 15(9), 1122; https://doi.org/10.3390/diagnostics15091122 - 28 Apr 2025

Abstract

Background: Current severity scoring systems in intensive care units (ICUs) are complex and time-consuming, limiting their utility for rapid clinical decision-making. This study aimed to develop and validate simplified prediction models using readily available biomarkers for assessing in-hospital mortality risk. Methods: We analyzed [...] Read more.

Background: Current severity scoring systems in intensive care units (ICUs) are complex and time-consuming, limiting their utility for rapid clinical decision-making. This study aimed to develop and validate simplified prediction models using readily available biomarkers for assessing in-hospital mortality risk. Methods: We analyzed 19,720 adult ICU patients in this retrospective study. Three prediction models were developed: a basic model using lactate-to-albumin ratio (LAR) and neutrophil percent-to-albumin ratio (NPAR) and two enhanced models incorporating mechanical ventilation and continuous renal replacement therapy. Model performance was evaluated against Sequential Organ Failure Assessment (SOFA) score and Acute Physiology and Chronic Health Evaluation (APACHE) II score using machine learning approaches and validated through comprehensive subgroup analyses. Results: Among individual biomarkers, SOFA score showed the highest discriminatory power (area under these curves [AUC] 0.931), followed by LAR (AUC 0.830), CAR (AUC 0.749), and NPAR (AUC 0.748). Our enhanced Model 3 demonstrated exceptional predictive performance (AUC 0.929), statistically comparable to SOFA (p = 0.052), and showed a trend toward superiority over APACHE II (AUC 0.900, p = 0.079). Model 2 performed comparably to APACHE II (AUC 0.913, p = 0.430), while Model 1, using only LAR and NPAR, achieved robust performance (AUC 0.898) despite its simplicity. Subgroup analyses across different ICU types demonstrated consistent performance of all three models, supporting their broad clinical applicability. Conclusions: This study introduces novel, simplified prediction models that rival traditional scoring systems in accuracy while offering significantly faster implementation. These findings represent a crucial step toward more efficient and practical risk assessment in critical care, potentially enabling earlier clinical interventions and improved patient outcomes. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

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14 pages, 16518 KiB

Open AccessArticle

Long-Term Outcomes of Crooked Nose Correction: The Value of Instrumental Diagnosis Trough Nasal Grid Analysis

by Riccardo Nocini

Diagnostics 2025, 15(9), 1121; https://doi.org/10.3390/diagnostics15091121 - 28 Apr 2025

Abstract

Background: Rhinoplasty is a leading cosmetic surgery, with the crooked nose being one of the most complex challenges due to its combination of functional and aesthetic issues. Involving multiple nasal components, a crooked nose remains difficult to correct, with a high recurrence [...] Read more.

Background: Rhinoplasty is a leading cosmetic surgery, with the crooked nose being one of the most complex challenges due to its combination of functional and aesthetic issues. Involving multiple nasal components, a crooked nose remains difficult to correct, with a high recurrence rate. The aim of this study was to analyze the long-term outcomes and stability of the nasal pyramid after surgery through a nasal grid analysis. Methods: A retrospective study was conducted on 360 patients (20 men and 16 women) treated for moderate to severe nasal deviation between January 2014 and January 2020. All patients underwent surgery by the same expert surgeon, with follow-ups extending to at least 24 months. Medical records, physical exams, and standardized photographic evaluations were used to assess outcomes. A nasal grid was adapted to analyze the long-term stability of nasal corrections, focusing on individual post-operative changes. Results: The study involved 360 patients, mostly men aged 22 to 65, with the majority having nasal deviations caused by extrinsic trauma (e.g., sports injuries). Nasal deviations affected various parts of the nose, and all patients underwent follow-up evaluations using a nasal grid to compare pre- and post-operative measurements. The results showed long-term stability in nasal corrections, with minimal changes observed between 1 month and 24 months post-surgery. Only one case had partial recurrence, requiring revision surgery, which was successful. Conclusions: The surgical correction of a crooked nose is complex and requires a personalized approach, particularly for severe septal deviations. Complete anatomical reconstruction, using advanced techniques like extracorporeal septal reconstruction and laser osteotomies, provides stable long-term results. The adapted nasal grid proved to be not only an effective post-operative assessment tool but also shows potential for the pre-operative classification of nasal deformity complexity. Although this study focused on a standardized surgical technique, future comparative analyses with alternative approaches are recommended to further validate the outcomes. Full article

(This article belongs to the Special Issue Advances in Diagnosis and Treatment in Otolaryngology)

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