This comprehensive review explores the genetic contributions to endometriosis and their potential impact on improving diagnostic techniques. The review begins by defining endometriosis and discussing its prevalence, emphasizing the need for a deeper understanding of the genetic basis of the condition. It highlights recent genome-wide association studies (GWAS) that have identified specific genetic variants associated with endometriosis, shedding light on the molecular pathways and mechanisms involved. The review addresses genetic heterogeneity across different populations and ethnicities, emphasizing the importance of considering population-specific markers in diagnostic approaches. It explores the diagnostic implications of genetic insights, including the potential use of genetic markers for precise and early detection, as well as risk prediction. The review also delves into the integration of genetic information with clinical parameters and imaging findings, and the exploration of multi-omics approaches for a comprehensive understanding of endometriosis. It discusses recent studies on genetic and epigenetic biomarkers, their potential as diagnostic tools, and the need for validation in independent cohorts. The review highlights the impact of new genomic technologies, such as next-generation sequencing, in improving diagnostic accuracy and personalized management. It identifies the challenges and future directions in translating genetic findings into diagnostic tools and emphasizes the transformative potential of genetic insights in endometriosis diagnosis. This review provides a roadmap for future research and underscores the significance of genetic insights in improving diagnostic precision and personalized care for individuals with endometriosis.
Basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC) are the most frequently occurring non-melanocytic skin cancers. The objective of our study is to present the pathophysiology of BCC and cSCC and its direct relationship with the histopathological diagnostics and the differential diagnostics of these types of cancer, based on the morphological characteristics, immunohistochemical profile, and genetic alterations. The qualitative study was based on emphasizing the morphological characteristics and immunohistochemistry profiles of BCC and cSCC and the differential diagnostics based on the tissue samples from the Clinical Pathology Department of Mures Clinical County Hospital between 2020 and 2022. We analyzed the histopathological appearances and immunohistochemical profiles of BCC and cSCC in comparison with those of Bowen disease, keratoacanthoma, hyperkeratotic squamous papilloma, metatypical carcinoma, pilomatricoma, trichoblastoma, Merkel cell carcinoma, pleomorphic dermal sarcoma (PDS), and melanoma. Our study showed the importance of the correct histopathological diagnosis, which has a direct impact on the appropriate treatment and outcome for each patient. The study highlighted the histopathological and morphological characteristics of NMSCs and the precursor lesions in HE and the immunohistochemical profile for lesions that may make the differential diagnosis difficult to establish.
Endometriosis and adenomyosis behave similarly to cancer. No current treatments represent a cure, even if there are several options, including hormonal and surgical therapy. In advanced or recurrent pathologies, however, personalized treatment is necessary. We have found that due to the multiple common features, various therapeutic options have been used or studied for all three pathologies, with varying results. The objective of this review is to extract from the relevant literature the compounds that are used for endometriosis and adenomyosis characterized by malignant behavior, with some of these drugs being studied first in the treatment of endometrial cancer. Special attention is needed in the pathogenesis of these pathologies. Despite the multiple drugs that have been tested, only a few of them have been introduced into clinical practice. An unmet need is the cure of these diseases. Long-time treatment is necessary because symptoms persist, and surgery is often followed by postoperative recurrence. We emphasize the need for new, effective, long-term treatments based on pathogeny while considering their adverse effects.
Cosmeceutical systems represent next-generation topical platforms designed to deliver bioactive molecules with therapeutic potential directly to the skin. This study evaluated four anti-wrinkle formulations (three creams and one emulgel) in terms of their stability, sensory characteristics, acceptability, and skin tolerance. The products incorporated a unique combination of active ingredients, including N-acetylcysteine, arginine HCl, Blainvillea camellia flower extract, tocopherol, and hyaluronic acid. For the cream formulations (EG01–EG03), different emulsifiers were employed, while EG04 was developed as an emulgel. Stability testing revealed that only three out of four formulations remained physically stable, with EG04 showing phase separation. Sensory analysis assessed parameters such as spreading, absorption, shininess, stickiness, greasiness, and smoothness, with results illustrated using a radar plot. EG01 and EG03 displayed similar sensory profiles, differing mainly in shininess and greasiness, while both exhibited high smoothness. In vivo testing was conducted on female human volunteers aged 50–65 years (Fitzpatrick skin types II–IV) to evaluate tolerance and acceptability. Only EG01 and EG03, formulated with methyl glucose sesquistearate and polyglyceryl-3-methylglucose distearate, respectively, demonstrated both superior sensory performance and 100% acceptability and tolerance in clinical assessment.
Background/Objectives: Cannabidiol (CBD) is a non-psychoactive compound found in the Cannabis sativa plant. Due to its broad therapeutic potential, CBD is often incorporated into various pharmaceutical formulations. This study aimed to evaluate homogenous (oil-based) and heterogeneous (emulsion-based) liquid preparations of CBD using different fatty oils and provide a comprehensive comparative framework for the development of stable liquid dosage forms of cannabidiol (CBD), with direct applications in pharmaceutical formulations. Methods: The oils and emulsions were qualitatively analysed to assess their stability and suitability as CBD carriers. Ultraviolet (UV) spectrophotometry and High-Performance Liquid Chromatography (HPLC) were employed for quantifying CBD in the formulations and also characterising them in terms of product quality. Results: The results indicated that sunflower oil is the most stable and analytically compatible matrix, with CBD recovery close to 100% and minimal degradation over time. Conversely, linseed and pumpkin seed oils exhibited significant analytical interference and oxidative instability. Oil-in-water emulsions prepared with a 4% Tween 80/Span 80 mixture demonstrated optimal physical stability and droplet size distribution. Conclusions: Overall, both formulations can be regarded as suitable pharmaceutical carriers for CBD delivery.
Primary neuroendocrine tumors (NETs) of the breast are considered a rare and undervalued subtype of breast carcinoma that occur mainly in postmenopausal women and are graded as G1 or G2 NETs or an invasive neuroendocrine carcinoma (NEC) (small cell or large cell). To establish a final diagnosis of breast carcinoma with neuroendocrine differentiation, it is essential to perform an immunohistochemical profile of the tumor, using antibodies against synaptophysin or chromogranin, as well as the MIB-1 proliferation index, one of the most controversial markers in breast pathology regarding its methodology in current clinical practice. A standardization error between institutions and pathologists regarding the evaluation of the MIB-1 proliferation index is present. Another challenge refers to the counting process of MIB-1′s expressiveness, which is known as a time-consuming process. The involvement of AI (artificial intelligence) automated systems could be a solution for diagnosing early stages, as well. We present the case of a post-menopausal 79-year-old woman diagnosed with primary neuroendocrine carcinoma of the breast (NECB). The purpose of this paper is to expose the interpretation of MIB-1 expression in our patient’ s case of breast neuroendocrine carcinoma, assisted by artificial intelligence (AI) software (HALO—IndicaLabs), and to analyze the associations between MIB-1 and common histopathological parameters.