Diagnostic Purposes Research Articles

The Impact of Computed Tomography Scans on the Management and Wait Times in Perianal Abscess Diagnoses.

Background Diagnosis and management of perianal abscesses (PAA) are based on history and clinical examination. Imaging is not indicated except in complicated cases, as determined by the surgical team. The monetary, ionizing radiation, and resource utilization costs of a computed tomography (CT) scan in the emergency room must be considered when used for diagnostic purposes of PAAs. Methods A retrospective analysis of 129 patients diagnosed with a diagnosis of PAA between 2015-2020 was performed. The primary endpoints included length of stay, CT performed, time from patient presentation to CT, and CT scan completion prior to surgical consultation. Data is reported as n (%) or median (IQR). Results Of the 129 patients diagnosed with PAA, 81 underwent CT, and 48 did not. General surgery was consulted in 88% of cases. There were no statistically significant differences in age (p=0.562), sex (p=0.531), or ethnicity (p=0.356). The median hospitalization time was two days when CT was performed (p=0.001). The median time elapsed from presentation to the emergency department and CT scan performed was 16 hours (p=0.001). CT scans were ordered before the surgical consultation in 65% of cases (p=0.001) and 17% after a surgical consultation was placed (p=0.009). Conclusion Performing CT scans prior to surgical evaluation for the diagnosis of PAA is not a responsible practice. The cost, resources, and radiation exposure must be considered. This study demonstrated that more CT scans are ordered prior to surgical consultation for PAA, resulting in a prolonged wait time in the emergency department.

Progress of nanomaterials in the treatment of thrombus.

Thrombus has long been the major contributor of death and disability because it can cause adverse effects to varying degrees on the body, resulting in vascular blockage, embolism, heart valve deformation, widespread bleeding, etc. However, clinically, conventional thrombolytic drug treatments have hemorrhagic complication risks and easy to miss the best time of treatment window. Thus, it is an urgent need to investigate newly alternative treatment strategies that can reduce adverse effects and improve treatment effectiveness. Drugs based on nanomaterials act as a new biomedical strategy and promising tools, and have already been investigated for both diagnostic and therapeutic purposes in thrombus therapy. Recent studies have some encouraging progress. In the present review, we primarily concern with the latest developments in the areas of nanomedicines targeting thrombosis therapy. We present the thrombus' formation, characteristics, and biomarkers for diagnosis, overview recent emerging nanomedicine strategies for thrombus therapy, and focus on the future design directions, challenges, and prospects in the nanomedicine application in thrombus therapy.

Diagnostic impact of RNA-based next-generation sequencing fusion panel for solid tumors: A single-institution experience.

Gene rearrangements frequently act as oncogenic driver mutations and determine the onset and progression of cancer. RNA-based next-generation sequencing (NGS) is being used with increasing frequency for solid tumors. The purpose of our study is to investigate the feasibility and utility of an RNA-based NGS fusion panel for solid tumors. We conducted a retrospective, single-institution review of fusion panels requested between May 2022 and March 2023. Demographic, clinical, pathologic, and molecular findings of the patients were reviewed. The utility of the RNA-based NGS fusion panel for the pathologic diagnosis of solid tumors was assessed. Our study included 345 cases, and a fusion event was identified in 24.3% (78/321) of cases. Among the 110 cases submitted for diagnostic purposes, a fusion event was detected in 42.7% (47/110) of cases. The results led to refinement or clarification of the initial diagnosis in 31.9% (15/47) of cases and agreement or support for the initial diagnosis in 59.6% (28/47) of cases. Furthermore, our study indicated that the overall cellularity (tumor and normal tissue) of the tested specimen influences the success of the testing process. In summary, this study demonstrated the feasibility and utility of an RNA-based NGS fusion panel for a wide variety of solid tumors in the appropriate clinicopathologic context. These findings warrant further validation in larger studies involving multiple institutional patient cohorts.

The ghost tumour revisited. Corticosteroids in primary central nervous system lymphoma: diagnostic, prognostic and therapeutic implications

Objective The cytolytic effect of corticosteroids on primary central nervous system lymphoma (PCNSL) has established the clinical dogma of avoiding steroid therapy prior to surgery for diagnostic purposes. However, since steroids are very useful during the initial management of intracranial lesions with vasogenic oedema, it was our aim to determine whether they cause a drawback in the diagnosis and prognosis of PCNSL. Methods A retrospective cohort study of patients diagnosed with PCNSL between 2000 and 2020 in our tertiary neurosurgical centre. Data on steroid administration, surgery type and complications, haematopathological findings and prognostic factors were compiled. A second cohort was used as a control group to compare the ratio of non-diagnostic biopsies; this series comprised patients who underwent stereotactic brain biopsy for any reason between 2019 and 2020. Results Forty patients with PCNSL were included in the study, of which 28 (70%) had received steroids before surgery. The use of steroids was more prevalent in patients with poorer performance status at diagnosis. No relevant differences were found in the diagnostic accuracy regardless of steroid exposure (93% under steroids vs 100% without steroids) or type of surgery performed. Furthermore, steroid withdrawal did not seem to augment the diagnostic ratio. The notable diagnostic delay was not influenced by the use of steroids. Conclusions Novel imaging and surgical techniques might obviate the need to withhold corticosteroids from patients suffering from PCNSL prior to biopsy. Moreover, when steroids have been given, tapering them and delaying the surgery might not be justified. This could hold relevant therapeutic implications in the early clinical stages.

Endometrioid adenocarcinoma arising from inguinal endometriosis during follow-up for gastric cancer surgery: a case report and literature review.

Malignant transformation of inguinal endometriosis is rare. A 56-year-old woman underwent surgery for advanced gastric cancer 5years ago and received postoperative adjuvant chemotherapy. She had no recurrence since then. However, 5years after surgery, contrast-enhanced computed tomography (CT) showed a mass in the right inguinal region suspected to be a hydrocele of the canal of Nuck, with a blood test showing a slightly elevated CA19-9 level (63.0 U/mL). Six months later, CT showed an enlarged mass in the right inguinal region and inflammation in the surrounding area. In addition, both inguinal lymph nodes and those in the right iliac artery area were enlarged, suggesting the possibility of malignancy. For diagnostic purposes, a right inguinal mass was excised. Histopathological examination revealed that it was endometrioid adenocarcinoma with ectopic endometriois as the origin. The differential diagnoses for inguinal masses in women include an inguinal hernia, hydrocele of the canal of Nuck, ectopic endometriosis, lymphoma, and metastatic malignancy. The presence of a primary malignancy in the inguinal region is sporadic but must be differentiated. This is the first case of malignant transformation of inguinal endometriosis developed during postoperative follow-up of another cancer.

SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands

BackgroundThe population of the Faroe Islands is an isolated population but very little is known about it from whole genome sequencing. The population of about 50000 people has a high incidence of rare diseases e.g., 1:300 for Primary Carnitine Deficiency. A screening programme was implemented, and eleven persons were also whole genome sequenced at x37 coverage for diagnostic purposes of those cases that were not affected by the known mutations. The purpose of our study is to utilize the high coverage data to explore the genomic variation and the ancestral history of the population. We study the SNP heterozygosity, the pairwise relatedness from kinship, the inbreeding from runs of homozygosity ROH, and we find the minor allele frequency distribution. We estimate the population ancestry and the timing of the founding event by using the whole genomes from eight consenting individuals.ResultsWe find the number of SNPs and the heterozygosity for the eight individual samples, and for merged samples, for which we also study the relatedness. We find close relatedness between the supposedly unrelated individuals. From ROH, we interpret the high relatedness as an ancient property of the isolated population. A bottleneck event is estimated starting between years sim 50-300 with a maximum consanguineous population in year sim 600 and similarly consanguineous between years 500-700. The ancestry analysis shows the population descends from founders of >99% European and <1% Admixed American ancestry. A distinct clustering near the central European and British populations of the 1000 Genome Project is likely the result of the population isolation and genetic drift. The minor allele frequency distribution suggests many rare variants.ConclusionsThe ancestry is mainly European while the inbreeding is higher compared to European populations and population isolates. The Faroese population has inbreeding more like ancient Europeans. We discovered a bottlenecked and consanguineous population event and estimated it starting in the 1st-4th century as compared to the oldest archaeological findings from the 4th-6th century.

Dispersive Modeling of Normal and Cancerous Cervical Cell Responses to Nanosecond Electric Fields in Reversible Electroporation Using a Drift-Step Rectifier Diode Generator.

This paper creates an approximate three-dimensional model for normal and cancerous cervical cells using image processing and computer-aided design (CAD) tools. The model is then exposed to low-frequency electric pulses to verify the work with experimental data. The transmembrane potential, pore density, and pore radius evolution are analyzed. This work adds a study of the electrodeformation of cells under an electric field to investigate cytoskeleton integrity. The Maxwell stress tensor is calculated for the dispersive bi-lipid layer plasma membrane. The solid displacement is calculated under electric stress to observe cytoskeleton integrity. After verifying the results with previous experiments, the cells are exposed to a nanosecond pulsed electric field. The nanosecond pulse is applied using a drift-step rectifier diode (DSRD)-based generator circuit. The cells' transmembrane voltage (TMV), pore density, pore radius evolution, displacement of the membrane under electric stress, and strain energy are calculated. A thermal analysis of the cells under a nanosecond pulse is also carried out to prove that it constitutes a non-thermal process. The results showed differences in normal and cancerous cell responses to electric pulses due to changes in morphology and differences in the cells' electrical and mechanical properties. This work is a model-driven microdosimetry method that could be used for diagnostic and therapeutic purposes.

Not Just Non-Consensual Pelvic Exams

Not Just Non-Consensual Pelvic Exams

Validity of a Mobile Application to Diagnose Temporomandibular Disorders.

This study aimed to assess the diagnostic accuracy of a mobile application by comparing its diagnoses to those of Orofacial Pain and Oral Medicine specialists and further imaging results (CBCT and MRI) in 500 patients with temporomandibular disorder (TMD). The research focused on three diagnostic categories: the initial specialist diagnoses, the final diagnoses after imaging, and the mobile app's diagnoses. The concordance rates, sensitivities, specificities, and positive predictive values of the diagnoses were examined, with further imaging serving as the gold standard. The mobile app demonstrated a high concordance rate compared to both the final (0.93) and the initial specialists' diagnoses (0.86). The sensitivities, specificities, and positive predictive values also indicated strong reliability, affirming the app's diagnostic validity. Although the concordance rate was slightly lower when comparing the app's diagnoses to the imaging results (CBCT and MRI), the specialists' diagnoses yielded similar results. The study suggests that user-friendly diagnostic mobile applications, based on the diagnostic criteria for TMD, could enhance the clinical management of TMD. Given the reliability of mobile applications for diagnostic purposes, their wider implementation could facilitate the provision of appropriate and timely treatments for patients with TMD.

Detection of Periodontal Bone Loss on Periapical Radiographs-A Diagnostic Study Using Different Convolutional Neural Networks.

Interest in machine learning models and convolutional neural networks (CNNs) for diagnostic purposes is steadily increasing in dentistry. Here, CNNs can potentially help in the classification of periodontal bone loss (PBL). In this study, the diagnostic performance of five CNNs in detecting PBL on periapical radiographs was analyzed. A set of anonymized periapical radiographs (N = 21,819) was evaluated by a group of trained and calibrated dentists and classified into radiographs without PBL or with mild, moderate, or severe PBL. Five CNNs were trained over five epochs. Statistically, diagnostic performance was analyzed using accuracy (ACC), sensitivity (SE), specificity (SP), and area under the receiver operating curve (AUC). Here, overall ACC ranged from 82.0% to 84.8%, SE 88.8-90.7%, SP 66.2-71.2%, and AUC 0.884-0.913, indicating similar diagnostic performance of the five CNNs. Furthermore, performance differences were evident in the individual sextant groups. Here, the highest values were found for the mandibular anterior teeth (ACC 94.9-96.0%) and the lowest values for the maxillary posterior teeth (78.0-80.7%). It can be concluded that automatic assessment of PBL seems to be possible, but that diagnostic accuracy varies depending on the location in the dentition. Future research is needed to improve performance for all tooth groups.

Genetics of Aberrant Immune Responses During Tumor Progression Among Iranian Population

The immune system has a critical tumor suppressor function via the detection and elimination of the tumor cells. Tumor cells' immune escaping is commonly observed during neoplastic transformations. Immune response suppression or aberrations facilitate immune escape that promotes tumor progression in distant or primary locations via epithelial-mesenchymal transition and angiogenesis, respectively. It has been reported that there is a rising trend of cancer incidence among the Iranian population. Since aberrant immune responses are involved in tumorigenesis; immunotherapeutic methods can be efficient for tumor cell elimination. In the present review, we discussed all of the immune-related genes that have been associated with tumor progression among the Iranian population to clarify the genetics of immune deficiency during tumor progression in this population. T regulatory and T helper related genes were the most frequently deregulated genes during tumor progression in the Iranian population. This review paves the way to suggest an immune-specific panel of genetic markers for diagnostic and immunotherapeutic purposes among Iranian cancer patients.

Testing the structure of the BERRI using exploratory and confirmatory factor analysis

BackgroundThe wellbeing of Children Looked After (CLA) is a multifaceted construct given their adverse experiences and greater risk of mental health complications. There is a clear need for a comprehensive mental health and psycho-adjustment measure for diagnostic and monitoring purposes within this population. ObjectiveThe aim of this study is to test, explore and validate the optimal factor structure of a new mental health and psycho-adjustment measure looking at Behavior, Emotions, Relationship, Risk, and Indicators (BERRI). Participants and SettingThe data were extracted from an existing large naturalistic sample of CLA for whom the BERRI was used as part of their placement providers’ service provision (N = 1543, 45% female). The surveys were completed by their primary carer reporting the child’s experiences during the previous month. MethodsBoth an exploratory factor analysis (EFA) and a confirmatory factor analysis (CFA) were conducted to assess the 87-item measure’s initial factor structure. For cross-validation purposes, the database was split 60–40 between a ‘train’ and a ‘test’ sub-sample. ResultsAn eight-factor structure (Dysregulation, Vulnerability, Neurodiverse needs, Negative self and emotions, Emotional disconnect, Barriers to connection, Risk to self, and Disrupted routines) emerged. This was subsequently validated by the CFA suggesting a good fit (CFI = 0.951, SRMR = 0.08, and RMSEA = 0.038) and good internal consistency. ConclusionsOur study supported the structure validity and internal consistency of a mental health and psycho-adjustment measure specifically developed for CLA. Recommendations for further research relating to the tool’s applicability in other populations are proposed.

A Cone Beam Computed Tomography-Based Investigation of the Frequency and Pattern of Radix Entomolaris in the Saudi Arabian Population.

Background and Objectives: An understanding of the anatomical complexity of teeth is a significant factor for a successful endodontic treatment outcome. The aim of this study was to explore the frequency and pattern of distribution of radix entomolaris (RE) in mandibular first molars (MFMs) of a Saudi Arabian subpopulation using CBCT scans. Materials and Methods: This study was conducted at dental clinics of Qassim University from February to May 2023 by evaluating CBCT scans that were previously obtained for diagnostic purposes. Scans of Saudi national patients with bilaterally present MFMs and fully formed root apices were included. Conversely, scans with one/or two missing MFMs, MFMs with incomplete root apices, full- or partial-coverage prosthesis, endodontic treatment, and associated radicular resorption were excluded from study. A total of 303 CBCT scans with 606 bilateral MFMs were analyzed by two calibrated evaluators for the presence of, and type according to Song's typolgy of RE. The data were analyzed using SPPS-24. The descriptive variables were documented as frequencies and percentages. The chi-square test was used to determine the association between the prevalence of RE with the gender, jaw side and age group. Both inter-rater and intra-rater agreements were estimated for detecting and classifying RE using Cohen's kappa test. Results: The sample had 63.7% males and 36.3% females. The prevalence of RE was 6.6%, with Song's type III (57.5%) as the most common variant. Absolute agreement was noted between the raters about the presence of RE and very strong agreement was noted for the classification of the RE. Conclusions: RE is an uncommon finding among the mandibular first molars of the Saudi population without any gender and quadrant predilection. The clinicians' knowledge of the presence and Song's type of RE may contribute towards the enhancement of endodontic treatment outcomes.

In silico analysis of prognostic and diagnostic significance of target genes from prostate cancer cell lines derived exomicroRNAs

BackgroundCancer-secreted exovesicles are important for cell-to-cell communication by altering cancer-related signalling pathways. Exovesicles-derived miRNAs (exomiRNAs)-target genes can be useful for diagnostic and prognostic purposes.MethodsExomiRNA from prostate cancer (PCa) cells (PC-3 and LNCaP) were quantified by qRT-PCR and compared to the healthy cell line RWPE-1 by using miRNome PCR 752 miRNAs Panel. MiRNet database was used to predict exomiRNA-target genes. ExomiRNA-target genes pathway functional enrichment was performed by using Reactome database and Enrichr platform. Protein–protein interaction analysis was carried out by using the STRING database. RNA target-gene sequencing data from The Cancer Genome Atlas Prostate Adenocarcinoma (TCGA-PRAD) database was screened out in 465 PCa patients for candidate gene expression in prostate tumour (PT) tissue and non-pathologic prostate (N-PP) tissue. Signature gene candidates were statistically analysed for diagnosis and prognosis usefulness.ResultsA total of 36 exomiRNAs were found downregulated when comparing PCa cells vs a healthy cell line; and when comparing PC-3 vs LNCaP, 14 miRNAs were found downregulated and 52 upregulated. Reactome pathway database revealed altered pathways and genes related to miRNA biosynthesis, miRNA-mediated gene silencing (TNRC6B and AGO1), and cell proliferation (CDK6), among others. Results showed that TNRC6B gene expression was up-regulated in PT tissue compared to N-PP (n = 52 paired samples) and could be useful for diagnostic purposes. Likewise, gene expression levels of CDK6, TNRC6B, and AGO1 were down-regulated in high-risk PT (n = 293) compared to low-risk PCa tissue counterparts (n = 172). When gene expression levels of CDK6, TNRC6B, and AGO1 were tested as a prognostic panel, the results showed that these improve the prognostic power of classical biomarkers.ConclusionExomiRNAs-targets genes, TNRC6B, CDK6, and AGO1, showed a deregulated expression profile in PCa tissue and could be useful for PCa diagnosis and prognosis.

Brainstem anatomy with 7-T MRI: in vivo assessment and ex vivo comparison

Background The brainstem contains grey matter nuclei and white matter tracts to be identified in clinical practice. The small size and the low contrast among them make their in vivo visualisation challenging using conventional magnetic resonance imaging (MRI) sequences at high magnetic field strengths. Combining higher spatial resolution, signal- and contrast-to-noise ratio and sensitivity to magnetic susceptibility (χ), susceptibility-weighted 7-T imaging could improve the assessment of brainstem anatomy.MethodsWe acquired high-resolution 7-T MRI of the brainstem in a 46-year-old female healthy volunteer (using a three-dimensional multi-echo gradient-recalled-echo sequence; spatial resolution 0.3 × 0.3 × 1.2 mm3) and in a brainstem sample from a 48-year-old female body donor that was sectioned and stained. Images were visually assessed; nuclei and tracts were labelled and named according to the official nomenclature.ResultsThis in vivo imaging revealed structures usually evaluated through light microscopy, such as the accessory olivary nuclei, oculomotor nucleus and the medial longitudinal fasciculus. Some fibre tracts, such as the medial lemniscus, were visible for most of their course. Overall, in in vivo acquisitions, χ and frequency maps performed better than T2*-weighted imaging and allowed for the evaluation of a greater number of anatomical structures. All the structures identified in vivo were confirmed by the ex vivo imaging and histology.ConclusionsThe use of multi-echo GRE sequences at 7 T allowed the visualisation of brainstem structures that are not visible in detail at conventional magnetic field and opens new perspectives in the diagnostic and therapeutical approach to brain disorders.Relevance statementIn vivo MR imaging at UHF provides detailed anatomy of CNS substructures comparable to that obtained with histology. Anatomical details are fundamentals for diagnostic purposes but also to plan a direct targeting for a minimally invasive brain stimulation or ablation.Key points• The in vivo brainstem anatomy was explored with ultrahigh field MRI (7 T).• In vivo T2*-weighted magnitude, χ, and frequency images revealed many brainstem structures.• Ex vivo imaging and histology confirmed all the structures identified in vivo.• χ and frequency imaging revealed more brainstem structures than magnitude imaging.Graphical

The developmental changes in the morphology of the otolith of the mullet Chelon auratus (Risso, 1810) (Mugiliformes, Mugilidae) collected from Köyceğiz Lagoon, Aegean Sea, Türkiye

ABSTRACT Nineteen traits were described to define the shapes of the otoliths. The outcomes of this study display ontogenetic variations for different age groups based on the recorded shapes. Otoliths of the young individuals belonging to fish length groups GI and GII have shown differences in the otolith shape from those of the older individuals of the remaining seven length groups examined. A comparison with earlier published otolith description on C. auratus collected from other areas showed some interspecific variation across larger geographic distances, making some characters useless for diagnostic purposes. Other otolith features were shown to be consistent in otoliths from different length groups and such characteristics could be considered for species identification purposes. These characteristics are otolith width, depth, shape of the mesial and the lateral surfaces, shape of the sulcus acusticus, shape of the ostium and cauda and shape of the ostio-caudal differentiation.

Connecting the dots towards precision orthodontics.

Precision orthodontics entails the use of personalized clinical, biological, social and environmental knowledge of each patient for deep individualized clinical phenotyping and diagnosis combined with the delivery of care using advanced customized devices, technologies and biologics. From its historical origins as a mechanotherapy and materials driven profession, the most recent advances in orthodontics in the past three decades have been propelled by technological innovations including volumetric and surface 3D imaging and printing, advances in software that facilitate the derivation of diagnostic details, enhanced personalization of treatment plans and fabrication of custom appliances. Still, the use of these diagnostic and therapeutic technologies is largely phenotype driven, focusing mainly on facial/skeletal morphology and tooth positions. Future advances in orthodontics will involve comprehensive understanding of an individual's biology through omics, a field of biology that involves large-scale rapid analyses of DNA, mRNA, proteins and other biological regulators from a cell, tissue or organism. Such understanding will define individual biological attributes that will impact diagnosis, treatment decisions, risk assessment and prognostics of therapy. Equally important are the advances in artificial intelligence (AI) and machine learning, and its applications in orthodontics. AI is already being used to perform validation of approaches for diagnostic purposes such as landmark identification, cephalometric tracings, diagnosis of pathologies and facial phenotyping from radiographs and/or photographs. Other areas for future discoveries and utilization of AI will include clinical decision support, precision orthodontics, payer decisions and risk prediction. The synergies between deep 3D phenotyping and advances in materials, omics and AI will propel the technological and omics era towards achieving the goal of delivering optimized and predictable precision orthodontics.

Impact of preoperative endoscopic procedures on adverse event rates after surgical resection for main-duct and mixed-type intraductal papillary mucinous neoplasms (IPMNs)

BackgroundMain-duct (MD-) and mixed-type (MT-) IPMNs harbor an increased risk of pancreatic cancer and warrant surgical resection. Preoperative endoscopic retrograde cholangiopancreatography (ERCP) and endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA) are important in the diagnosis of IPMNs. The aim of this study was to investigate whether endoscopic procedures manipulating the MD impact postoperative adverse events in patients with MD- and MT-IPMNs. MethodsWe performed a retrospective study of 369 patients who underwent resections for MD- or MT-IPMN at two tertiary centers (2000–2019). Multivariable logistic regression analyses were performed for postoperative adverse events to compare the risks between intervention (ERCP, EUS-FNA with branch duct (BD) aspirated, EUS-FNA with MD aspirated from the duct directly or cyst/mass arising from MD) versus no-intervention group. Results33.1 % of patients had a preoperative ERCP and 69.4 % had EUS-FNA. Postoperative adverse events included: 30-day readmission (12.7 %), delayed gastric emptying (13.8 %), pancreatic fistula (10.3 %), abdominal abscess (5.7 %), cardiopulmonary adverse events (11.4 %), and mortality (1.4 %). The model was adjusted for potential confounders. There were no significant differences between the ERCP and no-ERCP groups for specific adverse events. Compared to no-EUS-FNA groups, groups of EUS-FNA with BD aspiration and EUS-FNA with MD aspiration from the main pancreatic duct directly or cyst/mass arising from MD did not show a significant increase in specific adverse events. ConclusionsPostoperative adverse events were not significantly increased among patients who had ERCP or EUS-FNA before surgical resection for MD- or MT-IPMNs. Endoscopic procedures directly sampling the MD can be safely pursued for diagnostic purposes in selected cases.

Neuroendocrine features of the pathogenesis of polycystic ovary syndrome (literature review)

Polycystic ovary syndrome (PCOS) is one of the most pressing problems in endocrine gynecology. The main signs of the disease are hyperandrogenism, menstrual and/or ovulatory dysfunction, and polycystic ovarian structure according to ultrasound. Women with PCOS are at risk for developing metabolic syndrome, type 2 diabetes, cardiovascular disease, and endometrial cancer. In this connection, the pathogenetic mechanisms of the occurrence of this syndrome are continuously studied and new methods of treatment are being sought. PCOS is characterized by a wide range of various disorders of the neuroendocrine regulation of the reproductive system. The main focus of the review is aimed at summarizing information about the etiological role of neuropeptides and neurotransmitters, such as phoenixin, galanins, orexins, GABA, in the pathophysiology of PCOS and about the possibility of their use for diagnostic and therapeutic purposes. In recent decades, the interest of scientists has been focused on the study of KNDy neurons, because it is the kisspeptin synthesized by them that is one of the main regulators of the hypothalamic-pituitary-ovarian axis. This article discusses data on the significance of KNDy neurons in the pathogenesis of the syndrome. Information is provided on the effect of elevated levels of androgens and anti-Müllerian hormone on GnRH neurons. Also analyzed are studies on functional and structural disorders in the hypothalamus in PCOS. Literature search was carried out in national (eLibrary, CyberLeninka.ru) and international (PubMed, Cochrane Library) databases in Russian and English. The priority was free access to the full text of articles. The choice of sources was prioritized for the period from 2018 to 2023.However, taking into account the insufficient knowledge of the chosen topic, the choice of sources dates back to 1998.

Modeling Red Blood Cell Metabolism in the Omics Era.

Red blood cells (RBCs) are abundant (more than 80% of the total cells in the human body), yet relatively simple, as they lack nuclei and organelles, including mitochondria. Since the earliest days of biochemistry, the accessibility of blood and RBCs made them an ideal matrix for the characterization of metabolism. Because of this, investigations into RBC metabolism are of extreme relevance for research and diagnostic purposes in scientific and clinical endeavors. The relative simplicity of RBCs has made them an eligible model for the development of reconstruction maps of eukaryotic cell metabolism since the early days of systems biology. Computational models hold the potential to deepen knowledge of RBC metabolism, but also and foremost to predict in silico RBC metabolic behaviors in response to environmental stimuli. Here, we review now classic concepts on RBC metabolism, prior work in systems biology of unicellular organisms, and how this work paved the way for the development of reconstruction models of RBC metabolism. Translationally, we discuss how the fields of metabolomics and systems biology have generated evidence to advance our understanding of the RBC storage lesion, a process of decline in storage quality that impacts over a hundred million blood units transfused every year.