Endocrine, metabolic & immune disorders drug targets最新文献

{"title":"Phytochemicals, Herbal Extracts, and Dietary Supplements for Metabolic Disease Management","authors":"Praveen Halagali, Aparna Inamdar, Jagroop Singh, Amit Anand, Poulami Sadhu, Rashmi Pathak, Himanshu Sharma, Deepak Biswas","doi":"10.2174/0118715303287911240409055710","DOIUrl":"https://doi.org/10.2174/0118715303287911240409055710","url":null,"abstract":": Comprehensive and effective care techniques have become essential due to the global epidemic dimensions of metabolic disorders, including diabetes, obesity, and cardiovascular ailments. Recent research highlights the potential of dietary supplements, herbal extracts, and phytochemicals in treating metabolic diseases. This abstract conveys the current state of the science in this field by highlighting these findings' underlying mechanisms and potential therapeutic applications. Plant-based diets contain naturally occurring bioactive molecules termed phytochemicals, which have shown promise in treating various metabolic illnesses. Examples include curcumin, flavonoids, and polyphenols' insulin-sensitizing, antioxidant, and antiinflammatory properties. Herbal extracts, derived from ancient medicinal herbs, have been used by people for years to treat a wide range of ailments. Recent studies have shown the efficacy of these strategies in improving lipid profiles, glucose metabolism, and overall cardiovascular health. Omega-3 fatty acids, vitamins, and minerals are just a few of the numerous nutritional supplements that are critical to metabolic health. These vitamins improve insulin sensitivity, regulate blood sugar, and decrease inflammation. Probiotics and prebiotics also affect the gut flora, which significantly affects metabolic function. These natural medicines' ability to treat metabolic diseases either by themselves or in combination with conventional medical interventions. However, when using it therapeutically, one must consider the differences in doses, individual responses, and bioavailability. The article concludes that phytochemicals, plant extracts, and food supplements offer a promising avenue for the management of metabolic illnesses. Comprehensive research, including clinical studies, is needed to ascertain their safety and efficacy characteristics. When added to treatment strategies, these natural therapies could be helpful supplements that improve overall health and the quality of life among individuals with metabolic diseases. Naringenin, a citrus flavonoid, can potentially prevent kidney injury in hyperuricemia by reducing uric acid, inflammation, apoptosis, DNA damage, and activating antioxidants. Further research and professional consultation are essential. Factors contributing to metabolic diseases, current approaches to management nutritional approaches for managing obesityassociated metabolic impairments in the liver and small intestine, and nutritional approaches for managing obesity-associated metabolic dysregulation are also explained briefly.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140811077","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of Metformin Therapy on Thyroid Volume and Functions in Patients with Newly Diagnosed Type 2 Diabetes Mellitus: A Single-center Prospective Study","authors":"Mehtap Evran, Gizem Pire, İsa Burak Güney","doi":"10.2174/0118715303307313240315162000","DOIUrl":"https://doi.org/10.2174/0118715303307313240315162000","url":null,"abstract":"Objective:: Patients with impaired glucose metabolism have increased thyroid volume and a higher prevalence of nodules. Yet, some studies show that there is an improvement in these thyroid parameters after diabetes treatment. Our observational study aimed to reveal the effect of treatment on thyroid function, thyroid volume, and the presence of nodules in newly diagnosed type 2 diabetes mellitus (T2DM) patients who were started on metformin treatment. Methods:: Euthyroid and subclinically hypothyroid patients with a serum TSH level of <10 mU/L, who were newly diagnosed with T2DM and started on metformin as an antidiabetic treatment and not used any thyroid medication previously, were included in our study. Patients' characteristics were recorded. Baseline and 6th-month serum thyroid function tests were scheduled. Baseline and 6th-month thyroid gland characteristics were examined by thyroid ultrasonography. Results:: A total of 101 (37 males, 64 females) newly diagnosed T2DM patients with euthyroid (n=95) or subclinical hypothyroidism (n=6) were included in the study. The mean age of the patients was 53.02 ± 11.9 years, and the mean BMI was 29.60 ± 3.9 kg/m2. Fifty-two (52%) patients were classified as obese. Body weight, BMI, serum TSH, ALT, Anti-TPO levels, and thyroid volume decreased significantly in the 6th-month compared to baseline values (p = 0.000; p = 0.000; p = 0.011; p = 0.022; p = 0.000, respectively). Serum anti-Tg, fT4, fT3 levels, and thyroid nodule count did not change significantly. A high agreement was found between the baseline and 6thmonth nodule counts (gamma= 0.886; p < 0.001) and the presence of multi-nodularity in the thyroid (gamma= 0.941; p < 0.001), but no significant change was observed. Anti-TPO levels showed a significant decrease in both with and without obesity groups at the end of 6 months (p = 0.003, p = 0.009, respectively). Serum TSH level decreased significantly only in non-obese subjects (p = 0.004), and thyroid volume decreased significantly only in obese subjects (p = 0.000). Conclusion:: Our results suggest that metformin treatment significantly reduces body weight, BMI, thyroid volume, and serum TSH, ALT, and Anti-TPO levels in patients with newly diagnosed T2DM. Moreover, serum TSH levels showed a significant decrease in non-obese subjects, while thyroid volume showed a significant decrease in obese subjects.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140811105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Honokiol Suppresses Cell Proliferation and Tumor Migration through ROS in Human Anaplastic Thyroid Cancer Cells.","authors":"Kai-Sheng Liao, Ying-Ray Lee, Wen-Ying Chao, Yen-Ju Huang, Hui-Chen Chung, Shu-Hsin Chen, Yi-zhen Li, Pei-Wen Zhao, Hong-Yi Chang","doi":"10.2174/0118715303295608240408082523","DOIUrl":"https://doi.org/10.2174/0118715303295608240408082523","url":null,"abstract":"BACKGROUND\u0000Honokiol is a natural polyphenolic compound extracted from Magnolia officinali, which is commonly used material in Chinese herbal medicine, has a variety of biological functions, including anti-tumor, anti-oxidant, anti-inflammation, anti-microbial and anti-allergy. Although honokiol has numerous beneficial effects on human diseases, the underlying mechanisms of tumor metastasis are still unclear. Previously, we reported that honokiol suppresses thyroid cancer cell proliferation with cytotoxicity through cell cycle arrest, apoptosis, and dysregulation of intracellular hemostasis. Herein, we hypothesized that the antioxidant effect of honokiol might play a critical role in thyroid cancer cell proliferation and migration.\u0000\u0000\u0000METHODS\u0000The cell viability assays, cellular reactive oxygen species (ROS) activity, cell migration, and immunoblotting were performed after cells were treated with honokiol.\u0000\u0000\u0000RESULTS\u0000Based on this hypothesis, we first demonstrated that honokiol suppresses cell proliferation in two human anaplastic thyroid carcinoma (ATC) cell lines, KMH-2 and ASH-3, within a dosage- and time-dependent manner by cell counting kit-8 (CCK-8) assay. Next, we examined that honokiol induced ROS activation and could be suppressed by pre-treated with an antioxidant agent, N-acetyl-l-cysteine (NAC). Furthermore, the honokiol suppressed cell proliferation can be rescued by pre-treated with NAC. Finally, we demonstrated that honokiol inhibited ATC cell migration by modulating epithelial-mesenchymal transition (EMT)-related markers by Western blotting.\u0000\u0000\u0000CONCLUSION\u0000Taken together, we provided the potential mechanism for treating ATC cells with honokiol, which significantly suppresses tumor proliferation and inhibits tumor metastasis in vitro through reactive oxygen species (ROS) induction.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140664030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anthocyanin-Mediated Autophagy in Hepatocellular Carcinoma: Gene Associations and Prognostic Implications","authors":"Juan Du, Enhua Shen","doi":"10.2174/0118715303280877240130065512","DOIUrl":"https://doi.org/10.2174/0118715303280877240130065512","url":null,"abstract":"Background: Hepatocellular carcinoma (HCC) is a globally prevalent malignancy accompanied by high incidence, poor outcomes, and high mortality. Anthocyanins can inhibit tumor proliferation, migration, invasion, and promote apoptosis. Moreover, autophagy-related genes (ARGs) may play vital roles in HCC progression. This study aimed to decipher the mechanisms through which anthocyanins influence HCC via ARGs and to establish a novel prognostic model. Methods: Based on data from public databases, differential analysis and the Venn algorithm were employed to detect intersecting genes among differentially expressed genes (DEGs), anthocyanin- related targets, and ARGs. Consensus clustering was implemented to delineate molecular subtypes of HCC. The prognostic model was developed by Cox regression analyses. CIBIRSORT was engaged to assess the immune cell infiltration. Kaplan-Meier (KM) analysis and receiver operating characteristic (ROC) curve were utilized to evaluate the predictive efficiency of the prognostic signature. Results: A total of 36 intersecting genes were identified from overlapping 1524 ARGs, 537 anthocyanin- related targets, and 5247 DEGs. Consensus clustering determined three molecular subtypes (cluster 1, cluster 2, and cluster 3). Cluster 1 showed worse outcomes and remarkably higher abundances of plasma cells and T follicular helper cells. Furthermore, four prognostic signatures [KDR (Kinase insert domain receptor), BAK1 (BCL2 antagonist/killer 1), HDAC1 (Histone deacetylase 1), and CDK2 (Cyclin-dependent kinase 2)] were identified and showing substantial predictive efficacy. method: Methods: Based on data from public databases, differential analysis and Venn algorithm were fulfilled to detect intersecting genes among differentially expressed genes (DEGs), anthocyanin-related targets, and ARGs. Consensus clustering was implemented to recognize molecular subtypes of HCC. The prognostic model was developed by Cox regression analyses. CIBIRSORT was utilized to implement the immune cell infiltration. Kaplan-Meier (KM) analysis and receiver operating characteristic (ROC) curve were adopted to evaluate the predictive efficiency of the prognostic signature. Conclusion: This investigation identified three molecular subtypes of HCC patients and proposed a promising prognostic signature comprising KDR, BAK1, HDAC1, and CDK2, which could supply further robust evidence for additional clinical and functional studies.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140602838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Randomized Trial of the Efficacy of Three Weight Loss Diet Interventions in Overweight/Obese with Polycystic Ovary Syndrome","authors":"Pan Dou, Ting-Ting Zhang, Yang Xu, Qing Xue, Yangyang Zhang, Jing Shang, Xiu-Li Yang","doi":"10.2174/0118715303286777240223074922","DOIUrl":"https://doi.org/10.2174/0118715303286777240223074922","url":null,"abstract":"Background: Polycystic Ovary Syndrome (PCOS) is a highly prevalent, complex, heterogeneous, polygenic endocrine disorder characterized by metabolic and reproductive dysfunction that affects 8-13% of women of reproductive age worldwide. The pathogenesis of PCOS has not been fully clarified and includes genetics, obesity, and insulin resistance (IR). Oxidative stress (OS) of PCOS is independent of obesity. It can induce IR through post-insulin receptor defects, impair glucose uptake in muscle and adipose tissue, and exacerbate IR by reducing insulin secretion from pancreatic β-cells. Objective: To investigate the effects of Calorie Restricted Diet (CRD), High Protein Diet (HPD), and High Protein and High Dietary Fiber Diet (HPD+HDF) on body composition, insulin resistance, and oxidative stress in overweight/obese PCOS patients. Methods: A total of 90 overweight/obese patients with PCOS were selected to receive an 8- week medical nutrition weight loss intervention at our First Hospital of Peking University, and we randomly divided them into the CRD group (group A), the HPD group (group B), and the HPD+HDF group (group C), with 30 patients in each group. We measured their body composition, HOMA-IR index, and oxidative stress indicators. The t-test, Mann-Whitney U test, analysis of variance (ANOVA), and Kruskal-Wallis H test were used to compare the efficacy of the three methods. Results: After eight weeks, the body weights of the three groups decreased by 6.32%, 5.70% and 7.24%, respectively, and the Visceral Fat Area (VFA) values decreased by 6.8cm2, 13.4cm2 and 23.45 cm2, respectively, especially in group C (p <0.05). The lean body mass (LBM), also known as the Fat-Free Mass (FFM) values of group B and group C after weight loss, were higher than that of group A (p <0.05). After weight loss, the homeostatic model assessment of insulin resistance (HOMA-IR) index and malondialdehyde (MDA) were decreased. Superoxide dismutase (SOD) was increased in all three groups (p <0.05), and the changes in SOD and MDA in group B and group C were more significant (p <0.05). HOMA-IR index positively correlated with body mass index (BMI) (r=0.195; p <0.05); MDA positively correlated with percent of body fat (PBF) (r=0.186; p <0.05) and HOMA-IR index (r=0.422; p <0.01); SOD positively correlated with LMI/FFMI (r=0.195; p <0.05), negatively correlated with HOMA-IR index (r=-0.433; p <0.01). Conclusion: All three diets were effective in reducing the body weight of overweight/obese patients with PCOS by more than 5% within 8 weeks and could improve both insulin resistance and oxidative stress damage. Compared with CRD, HPD and HPD+HDF diets could better retain lean body mass and significantly improve oxidative stress damage.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140575924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Puerarin: A Potential Supplement for Diabetes and its Complications","authors":"Baogeng Huai, Yin Shen, Baosha Huai, Hong Wang, Yingjuan Cao, Yun Qiao, Deshan Liu","doi":"10.2174/0118715303287050240223073217","DOIUrl":"https://doi.org/10.2174/0118715303287050240223073217","url":null,"abstract":": In recent years, the prevalence of diabetes has gradually increased and has become one of the main chronic non-communicable diseases, threatening the lives of people. Diabetic complications are characterized by high incidence and poor prognosis. Once they occur, conventional drugs are difficult to reverse, so it is extremely urgent to seek new drugs to treat diabetes and complications. Puerarin is an isoflavone derivative isolated from the root of Pueraria lobata; it has the functions of regulating blood glucose and lipids, protecting pancreatic β cells, improving insulin resistance, anti-inflammation, anti-oxidation, and may become a potential supplement and substitute drug for diabetes and complications. Although puerarin is effective in the treatment of diabetes and complications, there is a lack of induction and collation of related mechanisms. This paper reviewed the research progress of the protective effect of puerarin on diabetes mellitus and its complications in recent years and discussed its related mechanism, providing a theoretical basis for the application of puerarin in the treatment of diabetes.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140602595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroprotective Efficacy of Phytoconstituents of Methanolic Shoots Extract of Calligonum polygonoides L. in Hypercholesterolemia-associated Neurodegenerations","authors":"Anita Sakarwal, Karishma Sen, Heera Ram, Suman Chowdhury, Priya Kashyap, Sunil Dutt Shukla, Anil Panwar","doi":"10.2174/0118715303283666240319062925","DOIUrl":"https://doi.org/10.2174/0118715303283666240319062925","url":null,"abstract":"Background: Small molecule phytocompounds can potentially ameliorate degenerative changes in cerebral tissues. Thus, the current study aimed to evaluate the neuroprotective efficacy of phytocompounds of methanolic shoots extract of Calligonum polygonoides L. (MSECP) in hypercholesterolemia-associated neurodegenerations. background: Hypercholesterolemia-associated neurodegenerations are leading complications in cardiovascular diseases (CVD). Methods: Phytochemical screening of the extract was made by LCMS/MS and validated by a repository of the chemical library. The hypercholesterolemia was induced through the intraperitoneal administration of poloxamer-407 with a high-fat diet. The in-silico assessments were accomplished by following the molecular docking, ADME and molecular dynamics. MMPBSA and PCA (Principal Component Analysis) analyzed the molecular dynamics simulations. Consequently, in-vivo studies were examined by lipid metabolism, free radical scavenging capabilities and histopathology of brain tissues (cortex and hippocampus). objective: To examine target enzymes (AChE and BuChE) inhibition and free radicals scavenging capabilities by leading compound. Results: 22 leading phytocompounds were exhibited in the test extract, as revealed by LCMS/ MS scrutiny. Molecular docking evaluated significant interactions of apigenin triacetate with target proteins (HMGCR (HMG-CoA reductase), (AChE-Acetylcholinesterase) and (BuChE- Butyrylcholinesterase). Molecular dynamics examined the interactions through assessments of the radius of gyration, RSMD, RSMF and SASA at 100 ns, which were further analyzed by MMPBSA (Molecular Mechanics Poisson-Boltzmann) and PCA (Principal Component Analysis). Accordingly, the treatment of test extract caused significant alterations in lipid profile, dyslipidemia indices, antioxidant levels and histopathology of brain tissues. Conclusion: It can be concluded that apigenin triacetate is a potent phytoconstituent of MSEPC and can interact with HMGCR, AChE, and BuChE, which resulted in improved hypercholesterolemia along with neuroprotective ameliorations in the cortex and hippocampus.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140575920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Healthy Diets and Lifestyles in the World: Mediterranean and Blue Zone People Live Longer. Special Focus on Gut Microbiota and Some Food Components","authors":"Luigi Santacroce, Lucrezia Bottalico, Ioannis Alexandros Charitos, Kastriot Haxhirexha, Skender Topi, Emilio Jirillo","doi":"10.2174/0118715303271634240319054728","DOIUrl":"https://doi.org/10.2174/0118715303271634240319054728","url":null,"abstract":": Longevity has been associated with healthy lifestyles, including some dietary regimens, such as the Mediterranean diet (MedDiet) and the Blue Zone (BZ) diets. MedDiet relies on a large consumption of fruit, vegetables, cereals, and extra-virgin olive oil, with less red meat and fat intake. Four major BZ have been recognized in the world, namely, Ogliastra in Sardinia (Italy), Ikaria (Greece), the Peninsula of Nicoya (Costa Rica), and Okinawa (Japan). Extreme longevity in these areas has been associated with correct lifestyles and dietary regimens. Fibers, polyphenols, beta-glucans, and unsaturated fatty acids represent the major constituents of both MedDiet and BZ diets, given their anti-inflammatory and antioxidant activities. Particularly, inhibition of the NF-kB pathway, with a reduced release of pro-inflammatory cytokines, and induction of T regulatory cells, with the production of the anti-inflammatory cytokine, interleukin- 10, are the main mechanisms that prevent or attenuate the “inflammaging.” Notably, consistent physical activity, intense social interactions, and an optimistic attitude contribute to longevity in BZD areas. Commonalities and differences between MedDIet and BZ diets will be outlined, with special reference to microbiota and food components, which may contribute to longevity.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140575836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Novel Finding of Micropenis Caused by Mutation of the ADGRG2 Gene: A Case Report and Literature Review","authors":"Yiling Cui, Ningyi Song, Ling Hou","doi":"10.2174/0118715303282511240206105343","DOIUrl":"https://doi.org/10.2174/0118715303282511240206105343","url":null,"abstract":"Background: This study reported a case of micropenis caused by a novel hemizygous mutation in the ADGRG2 gene, which aimed to expand the understanding of sexual dysplasia caused by ADGRG2 gene mutation. Case Presentation: We present the clinical data and genetic test results of a patient with micropenis admitted in September, 2022, to the Tongji Hospital. The patient was a 9-year-10- month-old male whose chief complaint was the presence of a short penis over a period of three years. In April 2016, the patient underwent corrective surgery for a clubbed penis. Upon admission to the study hospital, his height and weight were 145.0 cm (75-90th percentile) and 37.8 kg (50-75th percentile), respectively, and his BA was 12 years old. His physical characteristics included a normal face, bilateral testicle size of 2 ml, and penile length of about 3 cm. A gonadotrophin-releasing hormone-stimulating test revealed normal hypothalamic-pituitary-gonadal axis function. An HCG stimulation test indicated normal sperm production in the testis. Key abnormalities from auxiliary examinations included low testosterone and high ACTH, dehydroepiandrosterone sulfate, androstenedione, and 17-OH-P levels. Genetic testing revealed a new hemizygous mutation, a splicing mutation in intron 4 of the ADGRG2 gene (ChrX: 19040187 (NM_001079858.3): c.154 + 2T > A, inherited from the mother. Conclusion: This study reported a case of micropenis caused by a new hemizygous mutation in the ADGRG2 gene. This indicates the importance of genetic testing and gene-guided treatments to improve prognosis.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139764448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Study of MicroRNA-124 in Patients with Lupus Nephritis","authors":"Mostafa Abdelsalam, Maysaa El Sayed Zaki, Nermin Youssef Abo El-Kheir, Mona Foda Salama, Asmaa Osama Bakr Seddik Osman","doi":"10.2174/0118715303250919231010073608","DOIUrl":"https://doi.org/10.2174/0118715303250919231010073608","url":null,"abstract":"Background: Lupus nephritis is associated with a six-fold increase in mortality compared with the general population. MicroRNAs studies revealed that increased MicroRNA -21 and MicroRNA -155 levels represent risk factors for active LN patients. MicroRNAs can be used as biomarkers in the diagnosis of clinical stages of LN. Objectives: The present study aimed to determine the level of miR-124 in patients with lupus nephritis by reverse transcriptase real-time polymerase chain reaction compared to healthy control and correlate its levels with biochemical findings in those patients. Methods: The study was a case-control study that included fifty patients with lupus nephritis in addition to fifty healthy controls. Blood samples from the participants were subjected to the determination of serological markers of SLE. Moreover, real-time PCR was used for the determination of miR-124. Results: The comparison of Micro-RNA124 between patients and control subjects revealed a statistically significant decrease in Micro-RNA124 in patients (1.193 ± 0.56) compared to the control (3.36 ± 0.50, p < 0.001); the comparison of the level of MicroRNA 124 in the patients with different clinical and serological findings of SLE revealed a significant decrease in the level of MicroRNA 124 in patients with muscular findings (1.02 ± 0.5) compared to the patients with negative manifestations (1.47 ± 0.5, p =0.005) Conclusion: In the present study, a comparison of MicroRNA-124 in LN patients with different stages compared to normal control showed a statistically significant decrease in Micro-RNA124 in patients with lupus nephritis p < 0.001 with significant correlation to the patients’ different clinical and serological findings of SLE. Therefore, it may be used as a new noninvasive therapeutic approach to monitor response to therapy, predict relapses, and identify the degree of the activity of the disease or the progression to the chronic stage.","PeriodicalId":11614,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139677645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}