Search Results (7)

Introduction: Fertility is fundamental to human well-being, significantly impacting both individual lives and societal development. In particular, sperm morphology—referring to the shape, size, and structural integrity of sperm cells—is a key indicator in diagnosing male infertility and selecting viable sperm in assisted reproductive technologies such as in vitro fertilisation (IVF) and intracytoplasmic sperm injection (ICSI). However, traditional manual evaluation methods are highly subjective and inconsistent, creating a need for standardized, automated systems. Objectives: This study aims to develop a robust and fully automated sperm morphology classification framework capable of accurately identifying a wide range of morphological abnormalities, thereby minimizing observer variability and improving diagnostic support in reproductive healthcare. Methods: We propose a novel ensemble-based classification approach that combines convolutional neural network (CNN)-derived features using both feature-level and decision-level fusion techniques. Features extracted from multiple EfficientNetV2 variants are fused and classified using Support Vector Machines (SVM), Random Forest (RF), and Multi-Layer Perceptron with Attention (MLP-Attention). Decision-level fusion is achieved via soft voting to enhance robustness and accuracy. Results: The proposed ensemble framework was evaluated using the Hi-LabSpermMorpho dataset, which contains 18 distinct sperm morphology classes. The fusion-based model achieved an accuracy of 67.70%, significantly outperforming individual classifiers. The integration of multiple CNN architectures and ensemble techniques effectively mitigated class imbalance and enhanced the generalizability of the model. Conclusions: The presented methodology demonstrates a substantial improvement over traditional and single-model approaches in automated sperm morphology classification. By leveraging ensemble learning and multi-level fusion, the model provides a reliable and scalable solution for clinical decision-making in male fertility assessment. Full article

Background: To date, little is known about correlations between liver dysfunction and circulatory and cardiac abnormalities (e.g.,: mitral valve, MV) in patients with chronic liver disease (CLD). This study aimed to assess a potential parallelism between liver dysfunction and cardiovascular involvement and identify the factors associated with structural and functional MV disorders. Methods. Among 995 patients with CLD, 346 were enrolled and compared with 168 controls without liver disease. According to the degree of liver disease, patients were classified as patients with chronic hepatitis (142) or with liver cirrhosis (Child-A: 70; Child-B: 65; Child-C: 69). Results: Among the chronic hepatitis group, resting heart rate (HR) and left ventricular (LV) mass were higher than in the control group (p = 0.0008), whereas systemic vascular resistance (SVR) was lower (p = 0.01). Among cirrhotic patients, resting HR, left atrium dimensions/volumes, LV walls thickness, LV mass, cardiac output (CO), isovolumetric relaxation time (IVRT), deceleration time (DT) and prevalence of aortic stenosis were higher than in non-cirrhotic patients (p = 0.02), whereas the e/a ratio and SVR were lower (p = 0.0001). Among Child-B/C, CO, IVRT, DT, prevalence of MV regurgitation and MV calcification score were higher than in the remaining patients (p = 0.02), whereas SVR was lower (p < 0.0001). Among cirrhotic patients with MV regurgitation, Child–Pugh score, liver disease duration, resting HR, left chambers dimensions/mass, CO, IVRT, DT and MV calcification score were higher compared to patients without regurgitation (p < 0.000), whereas mean blood pressure, e/a ratio and SVR were lower (p = 0.008). At multivariate analysis, Child–Pugh score, liver disease duration, left chambers volume/mass and MV calcification score were independently associated with MV regurgitation in cirrhotic patients. Child–Pugh score and MV calcification score strongly correlated in cirrhotic patients (r = 0.68, 95% CI 0.60–0.75, p < 0.0001). Conclusions: The magnitude of cardiac morpho/functional abnormalities is associated with the severity of liver dysfunction. Structural and functional MV abnormalities could represent a novel sign of cardiac involvement in liver cirrhosis. The severity and duration of liver disease, the enlargement of cardiac chambers and leaflet calcium accumulation could play a key role. Full article

Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiovascular diseases, and it shows an autosomal dominant pattern of inheritance. HCM can be clinically silent, and sudden unexpected death due to malignant arrhythmias may be the first manifestation. Thus, the HCM diagnosis could be performed at a clinical and judicial autopsy and offer useful findings on morphological features; moreover, it could integrate the knowledge on the genetic aspect of the disease. This review aims to systematically analyze the literature on the main post-mortem investigations and the related findings of HCM to reach a well-characterized and stringent diagnosis; the review was performed using PubMed and Scopus databases. The articles on the post-mortem evaluation of HCM by gross and microscopic evaluation, imaging, and genetic test were selected; a total of 36 studies were included. HCM was described with a wide range of gross findings, and there were cases without morphological alterations. Myocyte hypertrophy, disarray, fibrosis, and small vessel disease were the main histological findings. The post-mortem genetic tests allowed the diagnosis to be reached in cases without morpho-structural abnormalities; clinical and forensic pathologists have a pivotal role in HCM diagnosis; they contribute to a better definition of the disease and also provide data on the genotype–phenotype correlation, which is useful for clinical research. Full article

Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase “sleep-disordered breathing (SDB)” indicates a wide array of conditions characterized by snoring and/or respiratory distress due to increased upper airway resistance and pharyngeal collapsibility; these range from primary snoring to obstructive sleep apnea (OSA) and occur in all age groups. In the general pediatric population, the prevalence of OSA varies between 2% and 5%, but in some particular clinical conditions, it can be much higher. While adenotonsillar hypertrophy (“classic phenotype”) is the main cause of OSA in preschool age (3–5 years), obesity (“adult phenotype”) is the most common cause in adolescence. There is also a “congenital–structural” phenotype that is characterized by a high prevalence of OSA, appearing from the earliest ages of life, supported by morpho-structural abnormalities or craniofacial changes and associated with genetic syndromes such as Pierre Robin syndrome, Prader-Willi, achondroplasia, and Down syndrome. Neuromuscular disorders and lysosomal storage disorders are also frequently accompanied by a high prevalence of OSA in all life ages. Early recognition and proper treatment are crucial to avoid major neuro-cognitive, cardiovascular, and metabolic morbidities. Full article

Human bone is a specialized tissue with unique material properties, providing mechanical support and resistance to the skeleton and simultaneously assuring capability of adaptation and remodelling. Knowing the properties of such a structure down to the micro-scale is of utmost importance, not only for the design of effective biomimetic materials but also to be able to detect pathological alterations in material properties, such as micro-fractures or abnormal tissue remodelling. The Brillouin and Raman micro-spectroscopic (BRmS) approach has the potential to become a first-choice technique, as it is capable of simultaneously investigating samples’ mechanical and structural properties in a non-destructive and label-free way. Here, we perform a mapping of cortical and trabecular bone sections of a femoral epiphysis, demonstrating the capability of the technique for discovering the morpho-mechanics of cells, the extracellular matrix, and marrow constituents. Moreover, the interpretation of Brillouin and Raman spectra merged with an approach of data mining is used to compare the mechanical alterations in specimens excised from distinct anatomical areas and subjected to different sample processing. The results disclose in both cases specific alterations in the morphology and/or in the tissue chemical make-up, which strongly affects bone mechanical properties, providing a method potentially extendable to other important biomedical issues. Full article

Usher syndrome type 2A (USH2A) is a genetic disease characterized by bilateral neuro-sensory hypoacusia and retinitis pigmentosa (RP). While several methods, including electroretinogram (ERG), describe retinal function in USH2A patients, structural alterations can be assessed by optical coherence tomography (OCT). According to a recent collaborative study, RP can be staged considering visual acuity, visual field area and ellipsoid zone (EZ) width. The aim of this study was to retrospectively determine RP stage in a cohort of patients with USH2A gene variants and to correlate the results with age, as well as additional functional and morphological parameters. In 26 patients with established USH2A genotype, RP was staged according to recent international standards. The cumulative staging score was correlated with patients’ age, amplitude of full-field and focal flicker ERGs, and the OCT-measured area of sub-Retinal Pigment Epithelium (RPE) illumination (SRI). RP cumulative score (CS) was positively correlated (r = 0.6) with age. CS was also negatively correlated (rho = −0.7) with log10 ERG amplitudes and positively correlated (r = 0.5) with SRI. In USH2A patients, RP severity score is correlated with age and additional morpho-functional parameters not included in the international staging system and can reliably predict their abnormality at different stages of disease. Full article

(1) Objective: To use optical coherence tomography angiography (OCTA) and microperimetry (MP) to evaluate the correlation between retinal structure and function in patients with idiopathic, full-thickness macular holes (FTMHs) (2) Methods: This prospective, observational study included 11 eyes of 10 patients with FTMHs evaluated before surgery using OCTA and MP. MP sensitivity maps were superimposed and registered on slabs corresponding to superficial capillary plexus (SCP) and deep capillary plexus (DCP) on OCTA, and on the outer plexiform layer (OPL) and the Henle fiber layer (HFL) complex in en face OCT. On these maps, mean retinal sensitivity was calculated at 2° and 4°, all centered on the FTMH. Cystic cavity extension was assessed on the slab corresponding to the OPL + HFL complex in en face OCT and DCP in OCTA using the Image J software (Version 1.49v; National Institutes of Health, Bethesda, MD, USA); (3) Results: Absolute scotomas were observed corresponding to the FTMH. Additionally, rings of relative scotoma in the perilesional area were detected and correlated to the cystic spaces on en face OCT and OCTA. There was a significant correlation between reduced retinal sensitivity at 2° and 4° diameters around the FTMH and the extension of cystic areas (p < 0.01). There was a significant correlation between the extension of cystic cavities and BCVA (p < 0.01). (4) Conclusions: Morpho-functional analysis of FTMH using OCTA and MP, and the correlation between vascular abnormalities and impaired retinal sensitivity, may provide new, useful information. This integrated evaluation of FTMH may be useful to determine the function–structure correlation before and after vitreoretinal surgery, in order to gain a better understanding of the functional consequences induced by the morphological alterations, assessing outcomes in a more objective way, and potentially adding new surgical prognostic factors. Full article