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Optimizing pre-genetic diagnosis of monogenic diabetes: clinical thresholds for targeted testing
Q3 Medicine Pub Date : 2025-04-23 DOI: 10.1016/j.endmts.2025.100243
Pichakacheri Sureshkumar , Sidharth S. Kumar

Background

Monogenic Diabetes Mellitus (MDM) represents a minority of Diabetes Mellitus (DM) cases but poses diagnostic complexities owing to its clinical overlap with other forms of DM. Preliminary clinical screening is crucial for diagnosis due to the paucity of genetic testing facilities.

Aim

We aimed to identify clinical thresholds that could enhance the likelihood of obtaining positive genetic test results while excluding young-onset T2DM in suspected cases of MDM.

Methodology

We analyzed the demographic, anthropometric, and biochemical details of genetically confirmed MDM participants (n = 10) from our center and compared them with those of clinically suspected patients who tested negative for MDM (n = 67), excluding two neonatal DM (NDM) cases. Using Receiver Operating Characteristic curves, we determined the thresholds for various parameters, prioritizing a sensitivity of ≥75 %.

Results

The upper cut-off values obtained for identifying individuals with a potential for genetic positivity were age of onset of DM 25.5 years, BMI 23.5 kg/m2, visceral fat 7 %, waist circumference (irrespective of gender) 86 cm, random C-peptide 1.41 ng/mL, AST 31 units/dL, ALT 41 units/dL, triglyceride 150 mg/dL, and for HDL, the lower cut-off point was 48.5 mg/dL.

Conclusion

These defined thresholds offer a potential to enhance the efficient use of genetic testing by ensuring more targeted utilization, thus optimizing resource allocation and improving diagnostic accuracy in the assessment of MDM.
{"title":"Optimizing pre-genetic diagnosis of monogenic diabetes: clinical thresholds for targeted testing","authors":"Pichakacheri Sureshkumar ,&nbsp;Sidharth S. Kumar","doi":"10.1016/j.endmts.2025.100243","DOIUrl":"10.1016/j.endmts.2025.100243","url":null,"abstract":"<div><h3>Background</h3><div>Monogenic Diabetes Mellitus (MDM) represents a minority of Diabetes Mellitus (DM) cases but poses diagnostic complexities owing to its clinical overlap with other forms of DM. Preliminary clinical screening is crucial for diagnosis due to the paucity of genetic testing facilities.</div></div><div><h3>Aim</h3><div>We aimed to identify clinical thresholds that could enhance the likelihood of obtaining positive genetic test results while excluding young-onset T2DM in suspected cases of MDM.</div></div><div><h3>Methodology</h3><div>We analyzed the demographic, anthropometric, and biochemical details of genetically confirmed MDM participants (<em>n</em> = 10) from our center and compared them with those of clinically suspected patients who tested negative for MDM (<em>n</em> = 67), excluding two neonatal DM (NDM) cases. Using Receiver Operating Characteristic curves, we determined the thresholds for various parameters, prioritizing a sensitivity of ≥75 %.</div></div><div><h3>Results</h3><div>The upper cut-off values obtained for identifying individuals with a potential for genetic positivity were age of onset of DM 25.5 years, BMI 23.5 kg/m<sup>2</sup>, visceral fat 7 %, waist circumference (irrespective of gender) 86 cm, random C-peptide 1.41 ng/mL, AST 31 units/dL, ALT 41 units/dL, triglyceride 150 mg/dL, and for HDL, the lower cut-off point was 48.5 mg/dL.</div></div><div><h3>Conclusion</h3><div>These defined thresholds offer a potential to enhance the efficient use of genetic testing by ensuring more targeted utilization, thus optimizing resource allocation and improving diagnostic accuracy in the assessment of MDM.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100243"},"PeriodicalIF":0.0,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143874296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Screening of MKRN3, DLK1, KISS1, KISS1R, and PROKR2 genes sequences in related girls with central precocious puberty for a personalized management
Q3 Medicine Pub Date : 2025-04-22 DOI: 10.1016/j.endmts.2025.100242
Ayah Alhusseni , Mariam Moalla , Mona Mahfood , Faten Hadj Kacem , Wafa Belabed , Wajdi Safi , Mohamed Abid , Mouna Mnif-Feki , Hassen Hadj Kacem

Purpose

Central precocious puberty (CPP) occurs when the hypothalamus prematurely releases gonadotropin-releasing hormone (GnRH), triggering early sexual maturation and the onset of puberty. Mutations in five genes, including KISS1, KISS1R, DLK1, MKRN3, and PROKR2, have been reported in both sporadic and familial CPP cases. Routine screening of these genes is essential for distinguishing between CPP and early physiological puberty. This study aims to evaluate the role of genetic diagnosis in offering personalized management for familial cases of CPP.

Methods

Clinical, biochemical, and imaging assessments were conducted on two related girls. The coding regions and flanking intronic sequences of the five genes were sequenced using Sanger sequencing and screened for potential mutations.

Results

We identified a heterozygous MKRN3 c.482insC (rs763195944) loss-of-function mutation in a girl diagnosed with CPP at 6.1 years (Tanner stage: P2A2B3). She was treated with a GnRH analogue for five years, and her pubertal development has been well managed (Tanner stage: P3A3B3, at 11 years). No pathogenic variants were found in the KISS1, KISS1R, DLK1, or PROKR2 genes. Consequently, we recommended clinical follow-up only for her unmutated maternal cousin, who was diagnosed with premature thelarche (Tanner stage: P3A3B3, at 8.8 years).

Conclusions

Routine genetic screening of CPP-related genes can assist clinicians in making accurate treatment decisions for patients exhibiting a growth spurt, rapid onset of puberty, and a family history of CPP. This approach enables more targeted and personalized management of the condition.
{"title":"Screening of MKRN3, DLK1, KISS1, KISS1R, and PROKR2 genes sequences in related girls with central precocious puberty for a personalized management","authors":"Ayah Alhusseni ,&nbsp;Mariam Moalla ,&nbsp;Mona Mahfood ,&nbsp;Faten Hadj Kacem ,&nbsp;Wafa Belabed ,&nbsp;Wajdi Safi ,&nbsp;Mohamed Abid ,&nbsp;Mouna Mnif-Feki ,&nbsp;Hassen Hadj Kacem","doi":"10.1016/j.endmts.2025.100242","DOIUrl":"10.1016/j.endmts.2025.100242","url":null,"abstract":"<div><h3>Purpose</h3><div>Central precocious puberty (CPP) occurs when the hypothalamus prematurely releases gonadotropin-releasing hormone (GnRH), triggering early sexual maturation and the onset of puberty. Mutations in five genes, including <em>KISS1</em>, <em>KISS1R</em>, <em>DLK1</em>, <em>MKRN3</em>, and <em>PROKR2</em>, have been reported in both sporadic and familial CPP cases. Routine screening of these genes is essential for distinguishing between CPP and early physiological puberty. This study aims to evaluate the role of genetic diagnosis in offering personalized management for familial cases of CPP.</div></div><div><h3>Methods</h3><div>Clinical, biochemical, and imaging assessments were conducted on two related girls. The coding regions and flanking intronic sequences of the five genes were sequenced using Sanger sequencing and screened for potential mutations.</div></div><div><h3>Results</h3><div>We identified a heterozygous <em>MKRN3</em> c.482insC (rs763195944) loss-of-function mutation in a girl diagnosed with CPP at 6.1 years (Tanner stage: P2A2B3). She was treated with a GnRH analogue for five years, and her pubertal development has been well managed (Tanner stage: P3A3B3, at 11 years). No pathogenic variants were found in the <em>KISS1</em>, <em>KISS1R</em>, <em>DLK1</em>, or <em>PROKR2</em> genes. Consequently, we recommended clinical follow-up only for her unmutated maternal cousin, who was diagnosed with premature thelarche (Tanner stage: P3A3B3, at 8.8 years).</div></div><div><h3>Conclusions</h3><div>Routine genetic screening of CPP-related genes can assist clinicians in making accurate treatment decisions for patients exhibiting a growth spurt, rapid onset of puberty, and a family history of CPP. This approach enables more targeted and personalized management of the condition.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100242"},"PeriodicalIF":0.0,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Risk factors of central compartment lymph node metastasis posterior to the right recurrent laryngeal nerve in differentiated thyroid carcinoma: A single-center prospective study in Vietnam
Q3 Medicine Pub Date : 2025-04-15 DOI: 10.1016/j.endmts.2025.100240
Phan Hoang Hiep , Tran Ngoc Luong , Doan Quoc Hung , Tran Doan Ket , Pham Quyet Thang , Do Van Ky , Nguyen Giang Son , Truong Quang Huy , Ngo Van Thanh , Do Trung Anh , Doan Vu Tu Quyen
The study aims to examine the incidence of central compartment lymph node metastasis on the right side posterior to the recurrent laryngeal nerve in cases of papillary thyroid cancer, as well as the risk factors that may increase this incidence. A total thyroidectomy was conducted on 230 patients diagnosed with differentiated thyroid cancer, accompanied by right central compartment lymph node dissection at Viet Nam National hospital of endocrinology in 2024. The central lymph nodes were categorized into two groups: pre-nerve lymph nodes and post-nerve lymph nodes. The clinical and paraclinical characteristics of the primary tumor and metastatic cervical lymph nodes were documented. The result showed that 52 cases (22.6 %) presenting metastatic lymph nodes. Age >55 years, female gender, tumor size exceeding 1 cm, concurrent thyroiditis, and metastasis to pre-nerve central lymph nodes and ipsilateral lateral neck lymph nodes were significantly correlated with elevated rates of metastasis to lymph nodes located posterior to the recurrent laryngeal nerve (p < 0.05). Tumor location, multifocality, and extrathyroidal invasion did not significantly influence the metastasis rate to post-nerve lymph nodes (p > 0.05). Multivariate regression analysis revealed four independent prognostic factors for post-nerve lymph node metastasis: tumor size exceeding 1 cm, concurrent chronic thyroiditis, metastasis to pre-nerve lymph nodes, and metastasis to ipsilateral lateral neck lymph nodes. In conclusion, patient with above characteristics, precise dissection is recommended to prevent the oversight of metastatic lymph nodes.
{"title":"Risk factors of central compartment lymph node metastasis posterior to the right recurrent laryngeal nerve in differentiated thyroid carcinoma: A single-center prospective study in Vietnam","authors":"Phan Hoang Hiep ,&nbsp;Tran Ngoc Luong ,&nbsp;Doan Quoc Hung ,&nbsp;Tran Doan Ket ,&nbsp;Pham Quyet Thang ,&nbsp;Do Van Ky ,&nbsp;Nguyen Giang Son ,&nbsp;Truong Quang Huy ,&nbsp;Ngo Van Thanh ,&nbsp;Do Trung Anh ,&nbsp;Doan Vu Tu Quyen","doi":"10.1016/j.endmts.2025.100240","DOIUrl":"10.1016/j.endmts.2025.100240","url":null,"abstract":"<div><div>The study aims to examine the incidence of central compartment lymph node metastasis on the right side posterior to the recurrent laryngeal nerve in cases of papillary thyroid cancer, as well as the risk factors that may increase this incidence. A total thyroidectomy was conducted on 230 patients diagnosed with differentiated thyroid cancer, accompanied by right central compartment lymph node dissection at Viet Nam National hospital of endocrinology in 2024. The central lymph nodes were categorized into two groups: pre-nerve lymph nodes and post-nerve lymph nodes. The clinical and paraclinical characteristics of the primary tumor and metastatic cervical lymph nodes were documented. The result showed that 52 cases (22.6 %) presenting metastatic lymph nodes. Age &gt;55 years, female gender, tumor size exceeding 1 cm, concurrent thyroiditis, and metastasis to pre-nerve central lymph nodes and ipsilateral lateral neck lymph nodes were significantly correlated with elevated rates of metastasis to lymph nodes located posterior to the recurrent laryngeal nerve (p &lt; 0.05). Tumor location, multifocality, and extrathyroidal invasion did not significantly influence the metastasis rate to post-nerve lymph nodes (p &gt; 0.05). Multivariate regression analysis revealed four independent prognostic factors for post-nerve lymph node metastasis: tumor size exceeding 1 cm, concurrent chronic thyroiditis, metastasis to pre-nerve lymph nodes, and metastasis to ipsilateral lateral neck lymph nodes. In conclusion, patient with above characteristics, precise dissection is recommended to prevent the oversight of metastatic lymph nodes.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100240"},"PeriodicalIF":0.0,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143839052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between lipid profiles and Graves orbitopathy: A systematic review and meta analysis
Q3 Medicine Pub Date : 2025-04-07 DOI: 10.1016/j.endmts.2025.100234
Nanny Natalia Mulyani Soetedjo , Louis Fabio Jonathan Jusni , Eric Ricardo Yonatan , Steven Alvianto , Nicolas Daniel Widjanarko , Hikmat Permana

Introduction

Graves orbitopathy (GO) is an autoimmune disorder affecting the tissues around the eyes, seen in 25–50 % of individuals with Graves disease (GD). Thyroid receptor antibodies (TRAb) target the TSH receptor, which can provoke an inflammatory response and promote fat cell formation by activating these receptors. Given this mechanism, statins that are commonly used for managing hyperlipidemia could be a potential treatment for GO. This review explores the connection between Graves orbitopathy and lipid profiles.

Method

This study followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. Articles were sourced from databases such as MEDLINE, ScienceDirect, EBSCO, ProQuest, Cochrane, and Google Scholar. The inclusion criteria covered both published and unpublished studies examining the relationship between GO and lipid profiles. Meta-analysis was conducted using Review Manager 5.4, and the risk of bias was evaluated using the Newcastle-Ottawa Scale (NOS).

Result

This review included a total of four cross-sectional studies. All studies found a significant association between LDL cholesterol levels and Graves orbitopathy. However, the relationships with triglycerides (TG), HDL levels, and total cholesterol (TC) were not consistently statistically significant. The meta-analysis revealed significant differences in TC, LDL cholesterol, and TG levels across all groups (SMD = 0.48, CI = 0.17–0.80, p = 0.002, I2 = 67 %; SMD = 0.42, CI = 0.18–0.67, p = 0.0008, I2 = 47 %; SMD = 0.24, CI = 0.07–0.41, p = 0.005, I2 = 0 %, respectively), while HDL levels did not show significant differences among the groups (SMD = 0.16, CI = −0.02-0.34, p = 0.08, I2 = 10 %).

Conclusion

Significant differences in serum lipid profiles, including TC, LDL, and TG except HDL, were found between patients with GO and those without. Further research is needed to confirm these findings.
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引用次数: 0
Effectiveness of radioactive iodine (RAI) and its associations with different factors in people presenting with hyperthyroidism
Q3 Medicine Pub Date : 2025-04-03 DOI: 10.1016/j.endmts.2025.100239
Sarwat Anjum , Javaid Iqbal , Musarrat Riaz , Salman Habib , Akhtar Ahmed , Naila Memon , Hafiza Faiza , Hira Tariq

Background

Radioactive iodine (RAI) is the important modality to treat Hyperthyroidism. Successful treatment is determined by development of euthyroidism and / or Hypothyroidism within 6 months of radioactive iodine treatment. The aim of this study was to find out the outcome of RAI treatment and its association with factors like age, gender various etiologies of hyperthyroidism and baseline TSH, FT4 in our population.

Methods

This retrospective study was conducted at KIRAN from January 2018 to June 2020. A total of 199 participants with complete data were recruited in study after IRB approval. Demographic details, age, gender, the underlying cause of hyperthyroidism Graves' disease, toxic multinodular goiter, toxic nodule, were obtained from medical records along with baseline FT4 & TSH. A fixed dose of 15mci of radioactive iodine was given to all patients and TSH and FT4 were measured at 6 weeks 3, 6, and 12 months. Data was analyzed by SPSS version 20.

Results

In our study 77.9 % were females, 22.1 % males, mean age was 41.32 ± 0.99 years, 74.4 % had Graves’ disease, whereas 15 % participants had solitary toxic nodule & toxic multinodular goiter. Post RAI TSH target was achieved earlier compared to FT4. Outcome of RAI treatment in patients with Graves’ disease and toxic nodule revealed statistically significant and early result. Females revealed significant improvement at 6 months in both biochemical markers i-e TSH and FT4 compared to males, however, the FT4 was statistically significant early in elderly participants. Successful treatment was noticed in 75.6 % at 6 &12 months.

Conclusion

Fixed dose RAI treatment achieved a 75.6 % success rate at 6 & 12 months, with prompt response noted in female gender, Graves’ disease and toxic nodules. Biochemical (TSH + FT4) improvement was faster in Females, while FT4 normalized earlier in elderly patients and overall TSH levels stabilized before FT4 levels, confirming RAI's effectiveness.
背景放射性碘(RAI)是治疗甲状腺功能亢进症的重要方法。治疗成功与否取决于放射性碘治疗后 6 个月内是否出现甲状腺功能亢进和/或甲状腺功能减退。本研究旨在找出 RAI 治疗的结果及其与年龄、性别、甲亢的各种病因和基线 TSH、FT4 等因素的关系。方法这项回顾性研究于 2018 年 1 月至 2020 年 6 月在 KIRAN 进行。经 IRB 批准后,共招募了 199 名数据完整的参与者参与研究。研究人员从病历中获取了人口统计学细节、年龄、性别、甲状腺功能亢进的根本原因格雷夫斯病、毒性多结节性甲状腺肿、毒性结节以及基线 FT4 & TSH。所有患者都服用了固定剂量的 15mci 放射性碘,并在 6 周、3 个月、6 个月和 12 个月时测量 TSH 和 FT4。研究结果77.9%的患者为女性,22.1%为男性,平均年龄为(41.32 ± 0.99)岁,74.4%的患者患有巴塞杜氏病,15%的患者患有单发毒性结节和毒性多结节性甲状腺肿。与FT4相比,RAI后TSH更早达到目标。对患有巴塞杜氏病和毒性结节的患者进行 RAI 治疗的结果显示,在统计学上有显著的早期疗效。与男性相比,女性患者的促甲状腺激素(TSH)和绒毛膜促性腺激素(FT4)在6个月后的生化指标均有明显改善,但在老年患者中,FT4的改善较早。结论固定剂量 RAI 治疗在 6 个月和 12 个月时的成功率为 75.6%,女性、巴塞杜氏病和毒性结节患者的反应较快。女性患者的生化指标(TSH + FT4)改善更快,而老年患者的 FT4 正常化更早,总体 TSH 水平先于 FT4 水平趋于稳定,这证实了 RAI 的有效性。
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引用次数: 0
Adrenal incidentaloma: Prevalence and evaluation. Experiences from a single health network
Q3 Medicine Pub Date : 2025-03-31 DOI: 10.1016/j.endmts.2025.100238
Mitchell Munnings , Shaun Koh , Christopher Gilfillan

Background

Increasing utilization and sensitivity of radiological imaging has led to an increase in the detection of adrenal incidentalomas (AIs). Most AIs are non-functional benign lesions, though, exclusion of functional and/or malignant AIs is mandatory. International guidelines describe the recommended evaluation of these lesions. However, data on local adherence to such recommendations is unknown.

Aims

To investigate the prevalence and evaluation of AIs discovered in a metropolitan health network and compare the data with established guidelines.

Methods

The study involves a retrospective identification of patients over 18 years old using keyword search criteria within radiology reports from computed tomography (CT) studies performed during 2019 and 2020. Clinical notes and the electronic medical record were interrogated to gather pathology results, co-morbidities, and follow-up. Patients with a known history of active malignancy, suspected adrenal pathology, or an established history of an adrenal adenoma were excluded.

Results

Adrenal incidentalomas were identified in 274 patients, with a prevalence of 0.7 %. Biochemical evaluation occurred in 15.3 % of AIs, and the recommended evaluation of cortisol and catecholamine excess occurred in 8.0 % of cases. Dedicated adrenal imaging occurred in 14.6 % of cases, and 10.2 % of AIs referred to endocrinology. Benign non-functional adenoma was the most common diagnosis; however, most AIs (82.1 %) did not have a final diagnosis.

Conclusions

Our study demonstrates a significant gap between guideline-recommended investigation of AIs and clinical practice. A similar suboptimal investigation rate has been reported internationally, leading to a hypothesis that is not an isolated finding. These data suggest an essential area for education to improve patient care.
{"title":"Adrenal incidentaloma: Prevalence and evaluation. Experiences from a single health network","authors":"Mitchell Munnings ,&nbsp;Shaun Koh ,&nbsp;Christopher Gilfillan","doi":"10.1016/j.endmts.2025.100238","DOIUrl":"10.1016/j.endmts.2025.100238","url":null,"abstract":"<div><h3>Background</h3><div>Increasing utilization and sensitivity of radiological imaging has led to an increase in the detection of adrenal incidentalomas (AIs). Most AIs are non-functional benign lesions, though, exclusion of functional and/or malignant AIs is mandatory. International guidelines describe the recommended evaluation of these lesions. However, data on local adherence to such recommendations is unknown.</div></div><div><h3>Aims</h3><div>To investigate the prevalence and evaluation of AIs discovered in a metropolitan health network and compare the data with established guidelines.</div></div><div><h3>Methods</h3><div>The study involves a retrospective identification of patients over 18 years old using keyword search criteria within radiology reports from computed tomography (CT) studies performed during 2019 and 2020. Clinical notes and the electronic medical record were interrogated to gather pathology results, co-morbidities, and follow-up. Patients with a known history of active malignancy, suspected adrenal pathology, or an established history of an adrenal adenoma were excluded.</div></div><div><h3>Results</h3><div>Adrenal incidentalomas were identified in 274 patients, with a prevalence of 0.7 %. Biochemical evaluation occurred in 15.3 % of AIs, and the recommended evaluation of cortisol and catecholamine excess occurred in 8.0 % of cases. Dedicated adrenal imaging occurred in 14.6 % of cases, and 10.2 % of AIs referred to endocrinology. Benign non-functional adenoma was the most common diagnosis; however, most AIs (82.1 %) did not have a final diagnosis.</div></div><div><h3>Conclusions</h3><div>Our study demonstrates a significant gap between guideline-recommended investigation of AIs and clinical practice. A similar suboptimal investigation rate has been reported internationally, leading to a hypothesis that is not an isolated finding. These data suggest an essential area for education to improve patient care.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100238"},"PeriodicalIF":0.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Thymus vulgaris seed extract hampered hepatic oxidative burden and improved insulin sensitivity in obese male rats
Q3 Medicine Pub Date : 2025-03-31 DOI: 10.1016/j.endmts.2025.100235
Sherif A. Abdelmottaleb Moussa , Fatma A.A. Ibrahim , Marawan Abd Elbaset , Fatma A. Morsy , Samir W. Aziz , Noha A. Abd El-Latif , Sherif M. Afifi , Tuba Esatbeyoglu , Sayed A. El Toumy , Josline Y. Salib , Samir A.E. Bashandy
Thyme, belonging to the family Lamiaceae, stands out as a noteworthy herb with diverse applications. This study investigates the impact of Thymus vulgaris seed extract administration on hepatic oxidative burden, insulin sensitivity, and liver function in obese rats. The T. vulgaris-treated groups, particularly the high-dose (400 mg/kg) group, showed substantial reductions in waist size, body weight, and BMI compared to the obese group. While reducing inflammatory markers, T. vulgaris seed extract supplementation demonstrated significant improvements in lipid profiles, insulin resistance, liver function, and antioxidant status. Histopathological examination of hepatic tissues confirmed the curing effects of T. vulgaris seed extract, as shown by improvements in hepatic architecture and a reduction in the deleterious changes induced by obesity. LC-MS was used to identify 32 metabolites in the seed extract of T. vulgaris with methoxyflavonoids as the most prevalent class. In conclusion, T. vulgaris seed extract administration exhibited promising anti-obesity effects, influencing anthropometric measures, lipid profiles, insulin resistance, liver function, and inflammatory and hepatic oxidative stress markers in obese rats. The study culminated in the potential therapeutic role of T. vulgaris seed in managing obesity-related complications.
{"title":"Thymus vulgaris seed extract hampered hepatic oxidative burden and improved insulin sensitivity in obese male rats","authors":"Sherif A. Abdelmottaleb Moussa ,&nbsp;Fatma A.A. Ibrahim ,&nbsp;Marawan Abd Elbaset ,&nbsp;Fatma A. Morsy ,&nbsp;Samir W. Aziz ,&nbsp;Noha A. Abd El-Latif ,&nbsp;Sherif M. Afifi ,&nbsp;Tuba Esatbeyoglu ,&nbsp;Sayed A. El Toumy ,&nbsp;Josline Y. Salib ,&nbsp;Samir A.E. Bashandy","doi":"10.1016/j.endmts.2025.100235","DOIUrl":"10.1016/j.endmts.2025.100235","url":null,"abstract":"<div><div>Thyme, belonging to the family Lamiaceae, stands out as a noteworthy herb with diverse applications. This study investigates the impact of <em>Thymus vulgaris</em> seed extract administration on hepatic oxidative burden, insulin sensitivity, and liver function in obese rats. The <em>T. vulgaris</em>-treated groups, particularly the high-dose (400 mg/kg) group, showed substantial reductions in waist size, body weight, and BMI compared to the obese group. While reducing inflammatory markers, <em>T. vulgaris</em> seed extract supplementation demonstrated significant improvements in lipid profiles, insulin resistance, liver function, and antioxidant status. Histopathological examination of hepatic tissues confirmed the curing effects of <em>T. vulgaris</em> seed extract, as shown by improvements in hepatic architecture and a reduction in the deleterious changes induced by obesity. LC-MS was used to identify 32 metabolites in the seed extract of <em>T. vulgaris</em> with methoxyflavonoids as the most prevalent class. In conclusion, <em>T. vulgaris</em> seed extract administration exhibited promising anti-obesity effects, influencing anthropometric measures, lipid profiles, insulin resistance, liver function, and inflammatory and hepatic oxidative stress markers in obese rats. The study culminated in the potential therapeutic role of <em>T. vulgaris</em> seed in managing obesity-related complications.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100235"},"PeriodicalIF":0.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143791143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of remdesivir on liver function: A comparative study of diabetic and non-diabetic COVID-19 patients
Q3 Medicine Pub Date : 2025-03-31 DOI: 10.1016/j.endmts.2025.100237
Zahra Zarei , Elham Nejadsadeghi , Seyedeh Leila Dehghani , Fateme Dadgar
This study aimed to evaluate the effect of remdesivir on liver tests in diabetic and non-diabetic COVID-19 patients through a multicenter study conducted in Southeast Iran. Therefore, 200 participants, comprising 98 patients with diabetes and 102 non-diabetic subjects, were assessed based on the Declaration of Helsinki, with proper inclusion, and exclusion criteria. Demographic data were collected using a detailed questionnaire and a clinical checklist documenting underlying health conditions, particularly diabetes and hypertension. Liver function tests measured key enzymes and substances, including aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and total bilirubin, and data analysis was performed using SPSS (Confidence Interval = 0.95, p ≤ 0.05). Key findings indicate a significant correlation between increasing age and diabetes prevalence, with older age groups exhibiting higher rates of diabetes. Gender analysis revealed a slight predominance of females among diabetic patients, while educational attainment appeared lower in this group, suggesting a potential link between education and diabetes incidence. In patients with diabetes, AST levels rose from 19.2 ± 2.1 U/L before treatment to 25.3 ± 3.1 U/L after treatment, while ALT levels increased from 18.1 ± 1.4 U/L to 23.5 ± 2.2 U/L. Non-diabetic patients showed less pronounced increases in liver enzymes, with AST rising from 28.7 ± 3.1 U/L to 13.2 ± 2.1 U/L after treatment and ALT changing from 18.6 ± 3.2 U/L to 19.6 ± 3.1 U/L. Health-related factors, particularly the prevalence of hypertension and obesity, were notably higher among patients with diabetes. Lifestyle behaviors, including smoking and physical activity levels, further distinguished the two groups, with patients with diabetes showing a higher smoking prevalence and a lower engagement in regular exercise. The impact of remdesivir treatment on liver function revealed significant increases in liver enzyme levels among patients with diabetes post-treatment, contrasting with stable liver function in non-diabetic patients. The study underscores the intricate relationship between diabetes, liver health, and COVID-19, emphasizing the importance of considering comorbidities in treatment and management strategies for diabetic patients.
{"title":"Impact of remdesivir on liver function: A comparative study of diabetic and non-diabetic COVID-19 patients","authors":"Zahra Zarei ,&nbsp;Elham Nejadsadeghi ,&nbsp;Seyedeh Leila Dehghani ,&nbsp;Fateme Dadgar","doi":"10.1016/j.endmts.2025.100237","DOIUrl":"10.1016/j.endmts.2025.100237","url":null,"abstract":"<div><div>This study aimed to evaluate the effect of remdesivir on liver tests in diabetic and non-diabetic COVID-19 patients through a multicenter study conducted in Southeast Iran. Therefore, 200 participants, comprising 98 patients with diabetes and 102 non-diabetic subjects, were assessed based on the Declaration of Helsinki, with proper inclusion, and exclusion criteria. Demographic data were collected using a detailed questionnaire and a clinical checklist documenting underlying health conditions, particularly diabetes and hypertension. Liver function tests measured key enzymes and substances, including aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), and total bilirubin, and data analysis was performed using SPSS (Confidence Interval = 0.95, <em>p</em> ≤ 0.05). Key findings indicate a significant correlation between increasing age and diabetes prevalence, with older age groups exhibiting higher rates of diabetes. Gender analysis revealed a slight predominance of females among diabetic patients, while educational attainment appeared lower in this group, suggesting a potential link between education and diabetes incidence. In patients with diabetes, AST levels rose from 19.2 ± 2.1 U/L before treatment to 25.3 ± 3.1 U/L after treatment, while ALT levels increased from 18.1 ± 1.4 U/L to 23.5 ± 2.2 U/L. Non-diabetic patients showed less pronounced increases in liver enzymes, with AST rising from 28.7 ± 3.1 U/L to 13.2 ± 2.1 U/L after treatment and ALT changing from 18.6 ± 3.2 U/L to 19.6 ± 3.1 U/L. Health-related factors, particularly the prevalence of hypertension and obesity, were notably higher among patients with diabetes. Lifestyle behaviors, including smoking and physical activity levels, further distinguished the two groups, with patients with diabetes showing a higher smoking prevalence and a lower engagement in regular exercise. The impact of remdesivir treatment on liver function revealed significant increases in liver enzyme levels among patients with diabetes post-treatment, contrasting with stable liver function in non-diabetic patients. The study underscores the intricate relationship between diabetes, liver health, and COVID-19, emphasizing the importance of considering comorbidities in treatment and management strategies for diabetic patients.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100237"},"PeriodicalIF":0.0,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The association between testosterone levels and diabetic nephropathy in Egyptian men with type 1 Diabetes Mellitus
Q3 Medicine Pub Date : 2025-03-27 DOI: 10.1016/j.endmts.2025.100233
Mina Michael Nesim, Maram Mohamed Maher Mahdy, Laila Mahmoud Ali Hendawy, Hadeer Osama Abd Eltawab Mohamed, Amr Mahmoud Mohamed Abd El Hady Saleh

Background

Type 1 diabetes mellitus is a chronic illness characterized by the body's inability to produce insulin due to the autoimmune destruction of beta cells in the pancreas. It can develop in adults and is often onset in childhood.

Objectives

To assess testosterone levels in Egyptian men with type 1 diabetes mellitus with and without nephropathy and identify its correlation with microalbuminuria.

Subjects and methods

This study was a case control study conducted at Diabetes outpatient clinic at Ain Shams University Hospital. The study was performed on diabetic subjects aging above 20 years old. The study included 120 participants with diabetes divided into 3 groups: 40 cases with type 1 diabetes and diabetic nephropathy, 40 cases with type 1 diabetes without diabetic nephropathy, 40 healthy males as a control group.

Result

Testosterone levels were higher in patients with T1DM than in healthy controls. Total testosterone levels were significantly higher in T1DM patients with diabetic nephropathy compared to those without diabetic nephropathy, mean = (653.208 ± 128.810) ng/dl versus (572.104 ± 146.024) ng/dl, p-value<0.01. Sex hormone-binding globulin showed no association with T1DM or diabetic nephropathy, p-value = 0.l.

Conclusion

The current study showed that testosterone levels were higher in participants with T1DM than in healthy controls. Also we found that total testosterone levels were significantly higher in T1DM participants with diabetic nephropathy compared to those without diabetic nephropathy. These results implicate that elevated testosterone levels could be the underlying cause of nephropathy in T1DM patients with nephropathy, and indicate that they may have a degree of androgen resistance for further research.
背景1型糖尿病是一种慢性疾病,其特征是由于胰腺中的β细胞受到自身免疫性破坏而导致机体无法产生胰岛素。研究对象和方法本研究是一项病例对照研究,在艾因夏姆斯大学医院糖尿病门诊进行。研究对象为 20 岁以上的糖尿病患者。研究对象包括 120 名糖尿病患者,分为 3 组:40 名 1 型糖尿病合并糖尿病肾病患者、40 名 1 型糖尿病无糖尿病肾病患者、40 名健康男性作为对照组。有糖尿病肾病的T1DM患者的总睾酮水平明显高于无糖尿病肾病的患者,平均值=(653.208 ± 128.810)ng/dl对(572.104 ± 146.024)ng/dl,P值<0.01。性激素结合球蛋白与 T1DM 或糖尿病肾病没有关联,p 值 = 0.l. 结论 本研究表明,T1DM 患者的睾酮水平高于健康对照组。此外,我们还发现,与无糖尿病肾病的患者相比,患有糖尿病肾病的 T1DM 患者的总睾酮水平明显更高。这些结果表明,睾酮水平升高可能是T1DM肾病患者发生肾病的根本原因,并表明他们可能存在一定程度的雄激素抵抗,有待进一步研究。
{"title":"The association between testosterone levels and diabetic nephropathy in Egyptian men with type 1 Diabetes Mellitus","authors":"Mina Michael Nesim,&nbsp;Maram Mohamed Maher Mahdy,&nbsp;Laila Mahmoud Ali Hendawy,&nbsp;Hadeer Osama Abd Eltawab Mohamed,&nbsp;Amr Mahmoud Mohamed Abd El Hady Saleh","doi":"10.1016/j.endmts.2025.100233","DOIUrl":"10.1016/j.endmts.2025.100233","url":null,"abstract":"<div><h3>Background</h3><div>Type 1 diabetes mellitus is a chronic illness characterized by the body's inability to produce insulin due to the autoimmune destruction of beta cells in the pancreas. It can develop in adults and is often onset in childhood.</div></div><div><h3>Objectives</h3><div>To assess testosterone levels in Egyptian men with type 1 diabetes mellitus with and without nephropathy and identify its correlation with microalbuminuria.</div></div><div><h3>Subjects and methods</h3><div>This study was a case control study conducted at Diabetes outpatient clinic at Ain Shams University Hospital. The study was performed on diabetic subjects aging above 20 years old. The study included 120 participants with diabetes divided into 3 groups: 40 cases with type 1 diabetes and diabetic nephropathy, 40 cases with type 1 diabetes without diabetic nephropathy, 40 healthy males as a control group.</div></div><div><h3>Result</h3><div>Testosterone levels were higher in patients with T1DM than in healthy controls. Total testosterone levels were significantly higher in T1DM patients with diabetic nephropathy compared to those without diabetic nephropathy, mean = (653.208 ± 128.810) ng/dl versus (572.104 ± 146.024) ng/dl, p-value&lt;0.01. Sex hormone-binding globulin showed no association with T1DM or diabetic nephropathy, p-value = 0.l.</div></div><div><h3>Conclusion</h3><div>The current study showed that testosterone levels were higher in participants with T1DM than in healthy controls. Also we found that total testosterone levels were significantly higher in T1DM participants with diabetic nephropathy compared to those without diabetic nephropathy. These results implicate that elevated testosterone levels could be the underlying cause of nephropathy in T1DM patients with nephropathy, and indicate that they may have a degree of androgen resistance for further research.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100233"},"PeriodicalIF":0.0,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical profile of hypertension patients in primary health Care in Cirebon Regency, Indonesia
Q3 Medicine Pub Date : 2025-03-20 DOI: 10.1016/j.endmts.2025.100232
Tiar Masykuroh Pratamawati , Ahmad Fariz Malvi Zamzam Zein , Uswatun Khasanah , Donny Nauphar , Vincentius S.W. Budhyanto , Idrus Alwi , Asmarinah

Introduction

Hypertension is a catastrophic non-communicable disease increasing in prevalence globally. This study aimed to assess the clinical profile of hypertensive patients in primary health care services in Cirebon Regency, Indonesia.

Method

This descriptive study employed a purposive sampling method, recruiting 97 adult patients diagnosed with essential hypertension at the Talun Community Health Center, Cirebon Regency, West Java, from November 2023 to February 2024. Patients with secondary hypertension or hypertension in pregnancy were excluded. Data were collected through questionnaires, blood pressure measurements, and analysis of blood and urine samples. The clinical profile included family history, control status of hypertension, lifestyle factors, cardiometabolic parameters, and mental health status. Lifestyle factors encompassed both dietary habits and physical activity levels. Cardiometabolic parameters included body mass index (BMI), HbA1c, lipid profile, kidney function, and electrocardiogram. Mental health status was measured using the Depression Anxiety Stress Scales (DAAS). Univariate analysis was stated in frequencies, mean, or median.

Results

The mean age of the participants was 51.33 (±1.07) years, predominantly female (84.54 %). Subjects with a family history of hypertension were 52.58 %, and 75.3 % had uncontrolled blood pressure. Most subjects (79.17 %) engaged in light daily physical activity, while only 4.2 % reported excessive sodium intake. The average BMI was 26.04 kg/m2, with 35.5 % classified as class 1 obese. Additionally, 12.4 % of subjects had diabetes mellitus, 41.2 % were prediabetic, and 80.41 % had dyslipidemia. Albuminuria was detected in 54.6 % of participants, and 7.2 % showed evidence of left ventricular hypertrophy. Regarding mental health, 37.50 % experienced anxiety, 8.33 % reported stress, and 4.17 % suffered from depression.

Conclusion

The findings indicate a significant proportion of hypertensive patients in primary health care in Cirebon Regency have uncontrolled blood pressure. Sedentary lifestyle, obesity, dyslipidemia, albuminuria, and prediabetes were prevalent among these patients. Moreover, anxiety affected more than a third of the studied subjects, highlighting the need for comprehensive management strategies for managing hypertensive patients.
{"title":"Clinical profile of hypertension patients in primary health Care in Cirebon Regency, Indonesia","authors":"Tiar Masykuroh Pratamawati ,&nbsp;Ahmad Fariz Malvi Zamzam Zein ,&nbsp;Uswatun Khasanah ,&nbsp;Donny Nauphar ,&nbsp;Vincentius S.W. Budhyanto ,&nbsp;Idrus Alwi ,&nbsp;Asmarinah","doi":"10.1016/j.endmts.2025.100232","DOIUrl":"10.1016/j.endmts.2025.100232","url":null,"abstract":"<div><h3>Introduction</h3><div>Hypertension is a catastrophic non-communicable disease increasing in prevalence globally. This study aimed to assess the clinical profile of hypertensive patients in primary health care services in Cirebon Regency, Indonesia.</div></div><div><h3>Method</h3><div>This descriptive study employed a purposive sampling method, recruiting 97 adult patients diagnosed with essential hypertension at the Talun Community Health Center, Cirebon Regency, West Java, from November 2023 to February 2024. Patients with secondary hypertension or hypertension in pregnancy were excluded. Data were collected through questionnaires, blood pressure measurements, and analysis of blood and urine samples. The clinical profile included family history, control status of hypertension, lifestyle factors, cardiometabolic parameters, and mental health status. Lifestyle factors encompassed both dietary habits and physical activity levels. Cardiometabolic parameters included body mass index (BMI), HbA1c, lipid profile, kidney function, and electrocardiogram. Mental health status was measured using the Depression Anxiety Stress Scales (DAAS). Univariate analysis was stated in frequencies, mean, or median.</div></div><div><h3>Results</h3><div>The mean age of the participants was 51.33 (±1.07) years, predominantly female (84.54 %). Subjects with a family history of hypertension were 52.58 %, and 75.3 % had uncontrolled blood pressure. Most subjects (79.17 %) engaged in light daily physical activity, while only 4.2 % reported excessive sodium intake. The average BMI was 26.04 kg/m<sup>2</sup>, with 35.5 % classified as class 1 obese. Additionally, 12.4 % of subjects had diabetes mellitus, 41.2 % were prediabetic, and 80.41 % had dyslipidemia. Albuminuria was detected in 54.6 % of participants, and 7.2 % showed evidence of left ventricular hypertrophy. Regarding mental health, 37.50 % experienced anxiety, 8.33 % reported stress, and 4.17 % suffered from depression.</div></div><div><h3>Conclusion</h3><div>The findings indicate a significant proportion of hypertensive patients in primary health care in Cirebon Regency have uncontrolled blood pressure. Sedentary lifestyle, obesity, dyslipidemia, albuminuria, and prediabetes were prevalent among these patients. Moreover, anxiety affected more than a third of the studied subjects, highlighting the need for comprehensive management strategies for managing hypertensive patients.</div></div>","PeriodicalId":34427,"journal":{"name":"Endocrine and Metabolic Science","volume":"18 ","pages":"Article 100232"},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143682625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Endocrine and Metabolic Science
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