Endocrinology Research Articles

Risk factors and predictive model construction for lower extremity arterial disease in diabetic patients.

To understand the prevalence and associated risk factors of lower extremity arterial disease (LEAD) in Chinese diabetic patients and to construct a risk prediction model. Data from the Diabetes Complications Warning Dataset of the China National Population Health Science Data Center were used. Logistic regression analysis was employed to identify related factors, and machine learning algorithms were used to construct the risk prediction model. The study population consisted of 3,000 patients, with 476 (15.9%) having LEAD. Multivariate regression analysis indicated that male gender, atherosclerosis, carotid artery stenosis, fatty liver, hematologic diseases, endocrine disorders, and elevated glycosylated serum proteins were independent risk factors for LEAD. The risk prediction models constructed using Logistic regression and MLP algorithms achieved moderate discrimination performance, with AUCs of 0.73 and 0.72, respectively. Our study identified the risk factors for LEAD in Chinese diabetic patients, and the constructed risk prediction model can aid in the diagnosis of LEAD.

Growth factors and puberty in thalassemia adolescents

Thalassemia is a genetic disorder that affects hemoglobin synthesis, causing chronic anemia that contributes to delayed growth and puberty in adolescents. This literature review discusses the factors underlying these delays, such as chronic anemia, iron overload due to repeated blood transfusions, and hormonal dysfunction. Oxygen deficiency due to anemia disrupts metabolic processes and endocrine function, especially in the pituitary axis and gonads, leading to delayed puberty. Effective treatment strategies include routine blood transfusions to maintain hemoglobin levels, iron chelation therapy to prevent endocrine damage, and hormonal interventions to treat growth and puberty disorders. Early detection and regular monitoring are essential to optimize outcomes for adolescent patients with thalassemia.

Evaluation of some biochemical changes and associated metabolic syndrome among pregnant women in Enugu Southeast of Nigeria

Objective: Metabolic syndrome is a global health problem which involves a cluster of conditions that increases the risk of heart disease, stroke and diabetes. Pregnancy induces significant physiological, hormonal and metabolic changes in a woman. The complex of metabolic and hormonal disorders is a risk factor for clinical manifestations of cardiovascular diseases, nephropathy and retinopathy. This study assessed some biochemical changes and associated metabolic syndrome among pregnant women in Enugu, Nigeria. Methods: A total of one hundred and thirty apparently healthy women consisting of seventy pregnant women as test group and sixty non-pregnant women as control group were recruited for this cross sectional study. Anthropometric parameters waist circumference (WC), height, weight, systolic blood pressure (SBP), diastolic blood pressure (DBP) were measured and body mass index (BMI) calculated. Five milliliters of fasting blood samples were collected and used for the determination of fasting plasma glucose (FPG) and lipid profile (TC, TG, HDL-C, LDL-C, VLDL-C) using enzymatic colorimetric methods. Metabolic Syndrome (MetS) prevalence was estimated using the National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) and International Diabetes Federation (IDF) criteria. Data was analysed using the Statistical Package for the Social Sciences (SPSS) version 26. Results: The results showed a significant (P< 0.05) increase in BMI, WC, SBP, DBP, TG, VLDL-C and a decrease in HDL-C of pregnant women compared to non-pregnant women. Using the NCEP-ATP III criteria, it was found that about twenty-eight (40%) pregnant women had metabolic syndrome and only two (3.33%) non-pregnant woman had metabolic syndrome while the IDF criteria, presented about thirty (42.9%) pregnant women and ten (16.7%) non-pregnant women with metabolic syndrome. Conclusion: This study concludes that pregnancy predisposes women to higher risk of developing metabolic syndrome.

POLYCYSTIC OVARY SYNDROME AMONG PATIENTS WITH TYPE 2 DIABETES MELLITUS IN DUHOK CITY, KURDISTAN REGION OF IRAQ

ABSTRACT Background: PCOS is the most common endocrine disorders with a potential to cause short- and long-term comorbidities especially T2DM. The present study was conducted to determine the prevalence of PCOS among type 2 diabetic patients in Duhok City, Kurdistan Region of Iraq. Methods: This study is an observational study conducted through cross-sectional design. Type 2 diabetic women (n = 200) at reproductive age were included. PCOS was confirmed using the clinical, hormonal and radiological findings according to Rotterdam criteria. Data of the study are determined in frequency distribution whether mean and standard deviation or frequency and percentage. Results: The prevalence of PCOS was high (81.5%) among type 2 diabetic women. The frequency of clinical findings in the type 2 diabetic patients revealed that majority of them had clinical feature and hormonal features while 77% of them had positive ultrasound features, 49% were newly diagnosed diabetic patients and 44.5% of the patients on metformin medication. Conclusions: PCOS is highly prevalent in type 2 diabetic patients. In-depth research is required to determine the appropriate methods to identify susceptible women including genetic studies in order to prevent or treat or limit the implications.

Improving health outcomes through a strength training and yoga program for young women with PCOS: A quality improvement project

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder associated with physical, mental, and reproductive health challenges. Lifestyle interventions, including exercise and yoga, have shown promise in managing PCOS symptoms. This quality improvement project aimed to assess the impact of a combined strength training and yoga program on the health outcomes of young women with PCOS. Methods: The 13-month program (December 2021 to January 2023) was conducted in a community setting. Participants were young women diagnosed with PCOS, selected based on predefined inclusion criteria. The intervention included bi-weekly strength training and yoga sessions, supplemented by group discussions and motivational coaching. Primary outcomes included weight loss, BMI reduction, mental health improvement (measured by PHQ-9 and GAD-7 scores), and menstrual regularity. Adherence and participation rates were tracked to evaluate engagement. Results: The average weight loss among participants was 5.2 ± 2.4 kg, with BMI reduced from 29.1 ± 3.2 kg/m² to 26.8 ± 2.9 kg/m². PHQ-9 depression scores decreased from 12.3 ± 4.5 to 6.4 ± 3.2, and GAD-7 anxiety scores improved from 10.6 ± 3.7 to 5.8 ± 2.9. Menstrual regularity improved, with 75% of participants reporting regular cycles by the end of the program. 82% of participants completed at least 70% of the sessions, indicating strong adherence. Conclusion: The combined strength training and yoga program effectively improved physical, mental, and reproductive health outcomes among young women with PCOS. High adherence rates demonstrated the feasibility of this approach, emphasizing the importance of lifestyle interventions in managing PCOS. Future efforts should focus on scaling the program and integrating nutrition-based strategies for even better outcomes.

Association of hemoglobin levels with metabolic traits in women with PCOS.

Within normal variation, higher hemoglobin (Hb) levels are associated with poorer metabolic profile in population cohorts, underlying the link between oxygen delivery and cell metabolism. Polycystic ovary syndrome (PCOS) is the most common endocrine disorder among women and is commonly accompanied by metabolic derangements. In this study we sought to investigate Hb levels, and their metabolic associations, in women with PCOS. We used data from Northern Finland Birth Cohort 1966 to evaluate Hb levels in women with or without PCOS at the ages of 31 and 46 years. Linear regression models were used to investigate associations between Hb levels and essential metabolic parameters in both groups. Women with PCOS had higher Hb levels than controls at the age of 31 years but not at the age of 46 years. Hb levels were associated positively with most of the metabolic parameters tested (body mass index, waist circumference, fasting insulin, homeostatic model assessment-insulin resistance (HOMA-IR), blood pressure, inflammatory markers, and blood lipids), with stronger associations in women with PCOS than in non-PCOS controls. There were fewer associations at the age of 46 than at 31 years, and body mass index seemed to explain many, though not all, differences between the PCOS and non-PCOS groups. Women with PCOS have higher Hb levels at the age of 31 years. In both women with and without PCOS, Hb levels associate with poorer metabolic profile.

One hundred years of endocrinology in Russia. From the history of pediatric endocrinology in Saint Petersburg

Endocrinology, one of the most dynamically developing branches of medicine, has existed as a separate discipline for a little over 100 years. The author of one of the first guidelines on endocrinology in Russia and the founder of the Leningrad School of Clinical Endocrinology was Professor Vasily G. Baranov (1899–1988). In 1926, an endocrinology department was opened at the Department of Therapy of the Leningrad State Institute for Advanced Medical Training under the leadership of Vasily Gavrilovich. Later, in 1963, Professor V.G. Baranov founded the Department of Endocrinology at this educational institution, which currently bears the name of the scientist. V.G. Baranov paid special attention to the issues of endocrine diseases in childhood. Together with academician A.F. Tur, he initiated the creation of an endocrinological service in pediatrics. It was only in 1998 that a new specialty “pediatric endocrinology” was added to the already existing training programs for doctors in the specialty “endocrinology”, opened by order of the Ministry of Health of the Russian Federation. However, the development and formation of pediatric endocrinology as a separate medical discipline took place before official recognition. A special role in the history of this formation belongs to the doctors of St. Petersburg.

COMPLIANCY TO LEVOTHYROXINE TREATMENT AND THE RATE OF DISEASE CONTROL FOR PATIENTS WITH HYPOTHYROIDISM IN DUHOK CITY

ABSTRACT Background: Hypothyroidism is one of the most prevalent endocrine diseases, affecting nearly 200 million people globally, with around 60% of those affected remaining undiagnosed. The incidence of hypothyroidism has been shown to have increased recently, becoming a worldwide health problem. It accounts for 30-40% of the patients seen in endocrinology departments and clinics. Iodine deficiency is the most prevalent cause of hypothyroidism, with data showing that around 2 billion people suffer from insufficient iodine intake.ke Materials and Methods: In this cross-sectional study, we enrolled 309 adults with hypothyroidism who had been receiving Levothyroxine for 8 weeks or more at Azadi General & Teaching Hospital from July 10, 2023, to August 25, 2023. The planned sample size was chosen to facilitate accurate estimates of the rate of control and adherence to treatment. No formal study visits were conducted, and patients were approached for participation during their routine clinic visits. Results: In our study of 309 hypothyroidism patients treated with levothyroxine for 8 weeks to 25 years, we found that 54.37% achieved optimal disease control, 37.22% did not achieve control, and 8.41% were overcorrected. Patients with full adherence to levothyroxine had significantly better TSH control compared to those with poor adherence (p < 0.001). Conclusions: In this study, we observed poor treatment compliance rates, with only around half of the patients achieving disease control. Additionally, a significant proportion of patients were found to be overweight or obese.

Multi-Region Detection of eye Conjunctiva Images Using DNCNN and YOLOv8 Algorithms

Artificial intelligence is encountered in many areas today. It makes our lives easier with its use in our daily lives. With the advancement of medical big data and artificial intelligence, eye images have begun to be used in the detection of endocrine, cardiovascular, neurological, renal, hematological and many other diseases. It is possible to find more connections between systemic disorders and eye disorders and apply them to increase the effectiveness of artificial intelligence. The eye is an anatomically complex organ. Detection of the conjunctiva regions of the eye generally plays an important role in the diagnosis of eye diseases and applications related to eye health. The conjunctiva is a thin membrane tissue that covers the inner surface of the eyelids and the white part of the eye. Detection and analysis of this region is used in the examination of inflammation, redness, dryness and other disorders in the eye. The relevant regions were found using conjunctiva images in the study. Conjunctiva region detection Images were taken from a public database and enhanced with the image enhancement method DNCNN. The YOLO algorithm is applied to raw images and DNCNN enhanced images separately using the same parameters. As a result, the effect of the deep learning based method on finding the truth in images is presented with F1-confidence curve, precision-confidence curve, recall-confidence curve, precision-recall curve and confusion matrix metrics. In the proposed method, the mAP value is given as 0.984 in all classes.

Prevalence of Thyroid Disorders in the Patient Visiting Tertiary Care Hospital in Jhapa District, Nepal

Background Thyroid dysfunction is a leading global endocrine disorder, affecting 30-40% of endocrine patients. Thyroid hormones regulate metabolism, growth, and cardiovascular health. Both hyper- and hypothyroidism are linked to serious health issues. Undiagnosed cases are common, with 42 million affected in India. Screening programs, especially for women, are vital for early detection and treatment. Methods This is a prospective hospital based study was conducted in the central laboratory at B&CMedical College Teaching Hospital and Research Centre Birtamode, Jhapa from March 2022 to January 2023.Venous Blood samples was collected and fT3,fT4 and TSH was estimated by Chemiluminescence Immunoassay (CLIA) method using Backman Coulter Access 2 analyser. Thyroid statuses were categorized as euthyroid, hypothyroid, subclinical hypothyroid, hyperthyroid, and subclinical hyperthyroid based on test results. Results The most common thyroid disorder in female was sub-clinical hypothyroidism (14.7%) and the least common was hypothyroidism (0.8%). The most common thyroid disorders was sub-clinical hypothyroidism (11.8%) and the least common was hypothyroidism (1.2%) in male. Among the thyroid disorders, subclinical hypothyroidism was most prevalent in all the age groups. Hyperthyroidism and its subclinical type (0.6%) were the least prevalent in the age group less than 15 years. Conclusions The prevalence of subclinical hypothyroidism was more significant and it increased with the age. Cross-sectional study comparing with different etiological factors like stress levels, geographic, environment, auto immunity, drugs, iodine status etc. may be required.

Impact of single layer reconstruction following surgery for chronic calcific pancreatitis: a retrospective analytical study

Background: Surgery is an effective treatment for chronic calcific pancreatitis (CCP), addressing intractable pain and complications. While many studies predict outcomes of various surgical procedures, few focus on the impact of reconstruction type. This retrospective study analyzed the outcomes of single-layer pancreaticojejunostomy (PJ) following surgery for CCP. Aim was to evaluate outcomes of single-layer PJ in CCP patients, focusing on complications, pain relief, exocrine insufficiency, and endocrine dysfunction, compared with historical controls. Methods: The study included 250 CCP patients treated at a tertiary care center in Chennai, India, from January 2011 to December 2024. Surgical ductal clearance and single-layer Roux-en-Y PJ using non-absorbable/delayed absorbable sutures were performed. Data on intraoperative parameters, postoperative complications, and follow-up assessments at 1, 2, and 3 months were analyzed. Primary outcomes included reductions in pancreatic fistula, bleeding, and infections. Secondary outcomes included operative time and duct size. Results: The median age was 38 years, with a male predominance (74%). Frey’s procedure was the most common (59.2%), and the mean operative time was 170 minutes. Complications included pancreatic fistulas (6.4%) and infections (9.6%), with a low mortality rate (0.4%). Postoperatively, 91% of patients achieved pain relief, and 64.4% of diabetics had improved glycemic control. Single-layer PJ showed shorter operative times than two-layer PJ with similar pain relief and blood loss. Complications decreased significantly (from 45% to 8%), alongside reduced postoperative pain scores. Conclusions: Single-layer PJ is a safe, effective reconstruction method for CCP, reducing surgical complexity and related complications.

Polycystic Ovaries And Associated Biochemical Features In Medical Students Of The Women Medical College In Haryana

Background: Polycystic ovarian syndrome (PCOS) is a heterogenous endocrinal disorder and one of the leading causes of infertility worldwide. Its diagnosis is based on abnormalities of the reproductive system, hyperandrogenism and persistent anovulation after exclusion of primary diseases of the ovaries and adrenal and pituitary glands. Methods: This Cross – sectional study was conducted among 362 MBBS students of a government medical college in Haryana chosen by simple random sampling. After taking written consent, interview was conducted. Categorical variables were presented in the form of frequency and proportions while continuous variables as mean and standard deviation. Results: Prevalence of PCOS among the study population was 15.74%. The mean age of onset of PCOS was 21.32 ± 1.35 years. Significant risk factors for PCOS were family h/o, drug intake for any illness, testosterone, DHEAS values, thyroid profile, Ultrasonography (USG) findings, BMI and Menstrual Irregularity with p-value < 0.005. Conclusion: PCOS is an emerging disorder that has been linked to a number of health issues, including obesity, anovulation and irregular menstruation. Age-related increases in PCOS prevalence and symptoms highlight the necessity for a multidisciplinary approach to early detection of this condition.

Analyzing the adverse events of NK-1 receptor antagonists: a pharmacovigilance study from the FAERS database

BackgroundNK-1 receptor antagonists (NK-1RAs) are proven to be successful in preventing chemotherapy-induced nausea and vomiting (CINV). The safety profile of NK-1RAs has not been systematically analyzed in the real world. This pharmacovigilance study investigated the differences in adverse events (AEs) between NK-1RAs.MethodsAdverse events (AEs) associated with NK-1RAs were gathered and standardized using data from the FAERS database spanning from the first quarter of 2009 to the fourth quarter of 2023. Various disproportionality techniques were employed for data analysis, such as the Reporting Odds Ratio (ROR), Proportional Reporting Ratio (PRR), Bayesian Confidence Propagation Neural Network (BCPNN), and Multi-item Gamma Poisson Shrinker (MGPS).ResultsA total of 5434AE reports listing NK-1RAs as the primary suspected drugs were identified. The System Organ Classes (SOC) appeared as significant safety signals were found. Among NK-1RAs, the most frequently reported AEs were related to general disorders and administration site conditions. In terms of PT level, the strong signals were mainly injection site reactions associated with aprepitant and fosaprepitant. Moreover, toxic encephalopathy and encephalopathy of the aprepitant were all positive with four algorithms. A significant finding was the recognition of adverse events linked to endocrine disorders, which were not previously mentioned in the medication instructions.ConclusionThe safety profile of NK-1RAs has been reported to be variable.If intravenous formulations were used in the clinic, injection site reactions should be a concern. In addition, more attention should be paid to the management of encephalopathy toxicity in patients treated with aprepitant in combination with ifosfamide. Besides known AEs, we have identified several new high-risk AEs, such as inappropriate antidiuretic hormone secretion, adrenal insufficiency and hyponatraemia. Overall, clinicians should closely monitor the occurrence of NK-1RA-related AEs in clinical applications.

Probiotics as potential allies in hormonal harmony and metabolic management: unlocking the Gut- Poly Cystic Ovary Syndrome (PCOS)

The intricate interplay between gut microbiota and metabolic disorders has sparked interest in exploring probiotics as potential therapeutic agents for Polycystic Ovary Diseases (PCOD). It is a hormonal or endocrine disorder which is a combination of biochemical and clinical including an imbalance in reproductive hormones especially elevated androgen levels (male hormones) called hyperandrogenism. PCOD, also known as PCOS (Polycystic Ovary Syndrome). The endocrine disruption in PCOS can affect the menstrual cycle, ovulation, and other aspects of reproductive and metabolic health. The precise origin and development of this disease are not well understood, but it is believed that a multifaceted interplay involving external factors, surrounding conditions, hormone mediated factors, genetic susceptibility, social and financial status, toxic exposure, psychological stress, Sedentary lifestyle and eating habits are presumed to be the primary ethiopathogenic determinant. A regular exercise program and a diet free of fats and sugars are also recommended to all women with PCOS in order to manage the condition. In recent years, researchers have increasingly examined the gut microbiota and its positive impact on nutritional, immunological and metabolic functions in the host. The involvement of the gut microbiome in various metabolic complications linked to PCOS, such as impaired insulin action, excessive body weight, adiposity and systemic inflammatory status suggests its potential influence on the development of PCOS. Studies reveal that the gut microbiome of women with polycystic ovarian syndrome differs from that of healthy women. Interest in the relationship between gut health and PCOS has grown, and new studies suggest that the development of PCOS related symptoms may be connected to the gut microbiota. Probiotics are live bacteria that, when consumed in sufficient amounts, offer health benefits to the host. As such, they have been investigated for their potential to treat polycystic ovarian syndrome. Probiotic supplementation results in a significant decrease in free androgen index and malondialdehyde levels, along with an increase in nitric oxide and Sex Hormone Binding Globulin (SHBG). It also has an advantage of reduction in body weight and body mass index, hypertrichosis, HOMA-IR and total testosterone levels of PCOS patients. However, it is essential to highlight that studies in this area are still in their infancy, and further research is necessary to provide conclusive proof. The purpose of this review is to evaluate the importance of probiotic supplements in management PCOS symptoms.

Age and Sex-Related Characteristics of Obesity-Associated Adult Mortality

Background. Obesity and associated diseases could substantially affect life expectancy by increasing the risks of premature mortality.Objective. To evaluate the changes in the age and sex distribution of adult mortality from obesity-associated causes in Moscow from 2011 to 2020 in comparison to the average national indicators.Materials and methods. The analysis focused on standardized death rates among the adult population, categorized by sex and age groups (aged 20–54, aged 55–59, aged 60 and older).Results. In Moscow, mortality from atherosclerotic cardiovascular disease significantly reduced, especially in persons aged 20–54. The reduction in mortality rate from cerebral infarction was higher in Moscow, especially in individuals aged 55 and older, across both sexes. Conversely, the incidence of ischemic heart disease mortality in Moscow has risen. The study showed an increase in mortality from endocrine diseases, including type 2 diabetes, which may be partly explained by the revised guidelines for coding primary causes of death. In addition, the dynamic in Moscow was more favorable. The mortality rates from malignant neoplasms in Moscow were 8% lower than in Russia, and mortality trends were rather favorable, both in Moscow and Russia. However, mortality rates and trends vary significantly depending on the type of malignancy.Conclusions. A favorable trend was observed in mortality from obesity-associated diseases, such as acute cerebrovascular accident (cerebral infarction) and some malignant neoplasms (colorectal cancer and breast cancer in women). The negative trends in mortality from such chronic diseases as ischemic heart disease and type 2 diabetes were observed. Men aged 55–59 have been identified as a risk group for these negative trends. Therefore, it is necessary to expand the preventive measures targeting these at-risk groups.

Interplay between elevated RAB5B gene expression and insulin resistance among women with PCOS-insights from a case-control study.

Polycystic ovary syndrome (PCOS) represents a multifaceted endocrine, reproductive, and metabolic disorder characterized by hyperandrogenism and hyperinsulinemia-induced insulin resistance (IR). Recent studies reported that the etiology of PCOS is likely correlated with genes involved in steriodogenesis, IR and glucose metabolism. Among the candidate genes in insulin signaling pathways, RAB5B, a small GTPase involved in vesicle trafficking, significantly impacts cellular pathways in ovarian follicular cells, leading to clinical and endocrine changes among women with PCOS. Additionally, RAB5B is crucial for insulin-mediated glucose uptake and is involved in PI3K, AKT, and MAPK/ERK pathways, affecting LHCGR-stimulated steroidogenesis. Despite extensive research, the precise molecular mechanisms underlying RAB5B mediated IR in PCOS remained elusive. The study aimed to explore the potential link between RAB5B gene expression and IR among women with PCOS. A total of age matched 270 subjects were enrolled in this study including 135 PCOS women and 135 apparently healthy controls. These study participants were subjected to detailed medical history, clinical and physical examination. All subjects were further evaluated for biochemical, hormonal and RAB5B gene expression estimation. Expression levels of RAB5B gene were analyzed using gene-specific primers and the SYBR® Green PCR Kit (Qiagen, Germany) and their qPCR reaction mix, according to the manufacturer's guidelines. Student t-test and ANOVA were used to evaluate the differences in the means of various parameters. The HOMA-IR (2.28 ± 1.4 vs. 1.36 ± 0.73) was significantly elevated among women with PCOS than controls (p < 0.05). We also found that the QUICKI (0.35 ± 0.04 vs. 0.37 ± 0.04), MATSUDA (12.59 ± 4.71 vs. 15.47 ± 4.33) and FGIR (11.56 ± 7.06 vs. 14.32 ± 8.66) were higher in controls than women with PCOS (p < 0.05). We also observed that women with PCOS had elevated levels of RAB5B mRNA levels when compared with apparently healthy controls. Bivariate correlation analysis among HOMA-IR stratified PCOS and control subjects revealed strong negative correlation between IR+ PCOS and IR- PCOS (r = -0.61, P < 0.05) and IR- control (r = -0.37, p < 0.05) subjects respectively. Our study demonstrated that there is potential link between RAB5B gene expression and IR specifically in the context of IR indices among women with PCOS.

Epigenetic inheritance of PCOS by developmental programming and germline transmission.

Polycystic ovary syndrome (PCOS) is a prevalent endocrine and metabolic disorder, affecting approximately 11-13% of women of reproductive age. Women with PCOS experience a higher prevalence of infertility, pregnancy complications, and cardiometabolic disorders such as obesity, insulin resistance, and type 2 diabetes mellitus. Furthermore, psychiatric comorbidities, including depression and anxiety, significantly impact the quality of life in this population. Although obesity exacerbates these health risks, the exact etiology and pathophysiology of PCOS remain complex and only partially understood. Emerging research suggests potential transgenerational inheritance through genetic and epigenetic mechanisms, highlighting the possibility of PCOS-related risks affecting subsequent generations, including sons. This review synthesizes recent findings on PCOS inheritance patterns and underscores areas for future clinical and research exploration.

Phenome-wide investigation of bidirectional causal relationships between major depressive disorder and common human diseases

The high comorbidity of major depressive disorder (MDD) with other diseases has been well-documented. However, the pairwise causal connections for MDD comorbid networks are poorly characterized. We performed Phenome-wide Mendelian randomization (MR) analyses to explore bidirectional causal associations between MDD (N = 807,553) and 877 common diseases from FinnGen datasets (N = 377,277). The inverse variance weighting method was the primary technique, and other methods (weighted median and MR-Egger) were used for sensitivity analyses. Our MR analyses showed that the genetic liability to MDD is causally associated with the risks of 324 disease phenotypes (average b: 0.339), including 46 psychiatric and behavioral disorders (average b: 0.618), 18 neurological diseases (average b: 0.348), 44 respiratory diseases (average b: 0.345), 40 digestive diseases (average b: 0.281), 18 circulatory diseases (average b: 0.237), 37 genitourinary diseases (average b: 0.271), 66 musculoskeletal and connective diseases (average b: 0.326), 22 endocrine diseases (average b: 0.302), and others. In a reverse analysis, a total of 51 genetic components predisposing to various diseases were causally associated with MDD risk (average b: 0.086), including 5 infectious diseases (average b: 0.056), 11 neurological diseases (average b: 0.106), 14 oncological diseases (average b: 0.108), and 5 psychiatric and behavioral disorders (average b: 0.114). Bidirectional causal associations were identified between MDD and 15 diseases. For most MR analyses, little evidence of heterogeneity and pleiotropy was detected. Our findings confirmed the extensive and significant causal role of genetic predisposition to MDD in contributing to human disease phenotypes, which were more pronounced than those seen in the reverse analysis of the causal influences of other diseases on MDD.

POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES

Europäische Wissenschaftliche Gesellschaft Home About the Journal Peer Review Editorial Board For Authors Reviewer Recognition Archive Contact Impressum EWG e.V. Elektronische Zeitschriftbibliotek Logo Bielefeld Academic Search Engine Logo Erfolgreich durch internationale Zusammenarbeit GYNECOLOGY Cite as: Archiv EuroMedica. 2024. 14; 6. DOI 10.35630/2024/14/6.606 Received 15 November 2024; Accepted 13 December 2024; Published 16 December 2024 POLYCYSTIC OVARY SYNDROME (PCOS): DIAGNOSIS, PATHOPHYSIOLOGY AND CONTEMPORARY THERAPEUTIC APPROACHES Jakub Początek orcid id logo, Szczepan Pośpiech, Jakub Prosowski orcid id logo, Michał Piotrowski orcid id logo, Piotr Serwicki email orcid id logo Medical University of Silesia, Katowice, Poland download article (pdf) piooreser@gmail.com ABSTRACT Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder impacting reproductive-aged women, manifesting through hormonal imbalances, metabolic irregularities, and reproductive health issues. It is one of the leading causes of infertility, also contributing significantly to various metabolic and psychological conditions. Effective management of PCOS depends on early and accurate diagnosis, a comprehensive understanding of it’s underlying mechanisms, and the application of individualized treatment strategies. Aim of the Study: This study seeks to consolidate existing knowledge on PCOS, outline diagnostic criteria, examine pathophysiological mechanisms, and evaluate both conventional and modern therapeutic approaches. This study aims to promote improved health outcomes and care strategies for women with PCOS by examining recent research findings. Materials and Methods: A systematic review of scientific literature was conducted through PubMed, Google Scholar, and other databases, focusing on diagnostic advancements, insights into pathophysiology, and innovative therapeutic methods for PCOS. Only studies published from 2019 onwards were included to ensure the use of the most recent data and developments in the field. Results: Although research has advanced, PCOS remains a complex condition with significant diagnostic and therapeutic challenges. Recent studies propose innovative diagnostic and treatment approaches that offer clinicians alternative options for cases that do not respond to standard management methods. Conclusions: PCOS continues to present a significant challenge in women’s health. Ongoing research into diagnostic techniques and treatment options enriches current guidelines, facilitates the creation of standardized protocols, and supports more timely and effective management strategies tailored to individual needs.

THE ROLE OF INTRACELLULAR SIGNALING PATHWAYS IN THE DEVELOPMENT OF LOWER EXTREMITY TROPHIC PATHOLOGY AND PECULIARITIES OF ITS REGENERATION IN TYPE 2 DIABETES (PART 2)

Introduction. In endocrinological science, the pathogenesis of trophic ulcers in soft tissues, which frequently occur and progress in patients with type 2 diabetes, remains a significant yet underexplored issue. Gaining a deeper understanding of the etiology and development of chronic trophic ulcers in the context of type 2 diabetes is crucial for advancing innovative and highly effective therapeutic approaches in the near future. The aim of this study is to investigate the role of certain “minor” signaling pathways, including hypoxia-inducible factor (HIF), Notch, and nuclear factor E2-related factor 2 (Nrf2), in the regeneration of cellular elements in soft tissue trophic ulcers observed in experimental animals and patients with type 2 diabetes. Material and methods. Based on data from modern professional literature, a study was conducted to elucidate the participation of the НIF-1, Notch and Nrf2 signaling pathways in the development of acute wounds, type 2 diabetes and, finally, the occurrence, progression, and healing of trophic ulcers during this endocrine disease. Results. It has been established that under hypoxic conditions at the initial stage of the inflammatory process during the regeneration of damaged soft tissues, an increase in the НIF-1α content is observed. The involvement of this molecular factor in the development of type 2 diabetes and the suppression of its expression level in chronic trophic ulcers against the background of type 2 diabetes were revealed. It has been demonstrated that another messenger cascade, Notch, is involved in all stages of healing of wound defects of the skin in acute wounds. At the same time, with the progression of type 2 diabetes, as well as the occurrence of chronic trophic ulcers in this endocrinological disease, the activation of this intracellular cascade was recorded. The process of regeneration and healing of damaged soft tissues of the skin was also accompanied by an increase in the content of the Nrf2. However, the development of type 2 diabetes was characterized by a decrease in the level of expression of this molecule. It is important to stress that the role of Nrf2 in the healing of trophic ulcers during type 2 diabetes remains not fully studied. Conclusion. The pathogenesis of chronic trophic ulcers in type 2 diabetes is based on disturbances in the activity of individual intracellular “minor” signaling pathways. Further study of the role of messenger cascades such as НIF-1, Notch and Nrf2 will contribute to the development of new approaches to improving the effectiveness of treatment of patients with chronic trophic ulcers of the lower extremities under type 2 diabetes.