Archives of Endocrinology Metabolism最新文献_第10页

Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review. 种系PRKACA扩增相关的原发性色素结节性肾上腺皮质疾病1例报告及文献复习

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2022-0491

Wang-Rong Yang, Xing-Huan Liang, Ying-Fen Qin, Hai-Yan Yang, Shu-Zhan He, Zhen-Xing Huang, Yu-Ping Liu, Zuo-Jie Luo

{"title":"Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review.","authors":"Wang-Rong Yang, Xing-Huan Liang, Ying-Fen Qin, Hai-Yan Yang, Shu-Zhan He, Zhen-Xing Huang, Yu-Ping Liu, Zuo-Jie Luo","doi":"10.20945/2359-4292-2022-0491","DOIUrl":"10.20945/2359-4292-2022-0491","url":null,"abstract":"Primary pigmented nodular adrenocortical disease (PPNAD) is a rare adrenocorticotropin hormone (ACTH)-independent Cushing's syndrome (CS). Pediatric patients with PPNAD typically have unusual skin lesions and slow growth with unknown causes. We present a case of a female Chinese patient with PPNAD caused by the germline PRKACA gene copy number gain of chromosome 19. The patient initially presented with kidney stones, short stature, and obesity. After further testing, it was discovered that the patient had diabetes, mild hypertension, low bone mass, a low ACTH level, and hypercortisolemia, and neither the low-dose or high-dose dexamethasone suppression test was able to inhibit hematuric cortisol, which paradoxically increased. PPNAD was pathologically diagnosed after unilateral adrenalectomy. Chromosome microarrays and whole exon sequencing analyses of the peripheral blood, as well as testing of sectioned adrenal tissue, showed a rise in the copy number of the duplication-containing PRKACA gene on chromosome 19p13.13p13.12, a de novo but not heritable gene defect that causes disease. The clinical signs and symptoms supported the diagnosis of Carney complex (CNC). One significant mechanism of CNC pathogenesis may be the rise in germline PRKACA copy number of chromosome 19. When assessing PPNAD patients for CNC, the possibility of PRKACA gene amplification should be considered. The effect of PRKACA gene amplification on the clinical manifestations of CNC needs to be confirmed by more cases.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e220491"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Assessment of quality of life in patients with craniopharyngioma and identification of risk factors for compromised overall wellness. 颅咽管瘤患者的生活质量评估及整体健康受损危险因素的识别。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2023-0001

Ben Lin, Shiyuan Xiang, Jiajun Chen, Yu Jing, Zhao Ye, Yichao Zhang, Xiaoyun Cao, Zhiwen Yin, Nidan Qiao, Xiang Zhou

{"title":"Assessment of quality of life in patients with craniopharyngioma and identification of risk factors for compromised overall wellness.","authors":"Ben Lin, Shiyuan Xiang, Jiajun Chen, Yu Jing, Zhao Ye, Yichao Zhang, Xiaoyun Cao, Zhiwen Yin, Nidan Qiao, Xiang Zhou","doi":"10.20945/2359-4292-2023-0001","DOIUrl":"10.20945/2359-4292-2023-0001","url":null,"abstract":"Objective: Quality of Life (QoL) has been a multifactorial concerning issue in oncology. We aimed to inspect the pre-operative QoL among patients with craniopharyngioma and to explore the potential correlations between parameters of QoL and clinical indices.Subjects and methods: We enrolled a total of 109 patients with craniopharyngioma. We utilized Short Form 36 (SF-36), Symptom Check List-90, Generalized Anxiety Disorder Questionnaire scale (GAD7), Patient Health Questionnaire Depression (PHQ9) and Pittsburgh Sleep Quality Index to prospectively evaluated their QoL. Parameters of QoL along with clinical indices were compared among sub-groups divided according to Puget classification. Correlation analyses and regression analyses were performed to detect influential determinants to self-reported wellness.Results: Patients presented impaired QoL compared with general population (p < 0.001), as assessed by SF-36. Correlation analyses indicated the detrimental influence resulting from central diabetes insipidus (CDI). Multivariate linear regression unveiled the adverse effect of CDI on Mental Component Summary (coefficient = -13.869, p= 0.007), GAD7 total score (coefficient = 2.072, p = 0.049) as well as PHQ9 total score (coefficient = 3.721, p = 0.001). Multivariate logistic regression verified CDI as a risk factor of developing depressive symptoms (OR = 6.160, p = 0.001).Conclusion: QoL of patients with craniopharyngioma was remarkably compromised before operation. CDI exerted detrimental influences on patients' QoL and it might serve as a marker for early identification of patients at risk of depression.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e230001"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of the participation of ABCA1 transporter in epicardial and mediastinal adipose tissue from patients with coronary artery disease. 冠状动脉疾病患者心外膜和纵隔脂肪组织中ABCA1转运蛋白参与的评价

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2023-0188

Giovanny Fuentevilla-Álvarez, Claudia Huesca-Gómez, Yazmín Estela Paz-Torres, Nadia González-Moyotl, María Elena Soto, José Antonio García-Valdivia, Reyna Sámano, Martín Martínez-Rosas, Sergio Enrique Meza-Toledo, Ricardo Gamboa

{"title":"Evaluation of the participation of ABCA1 transporter in epicardial and mediastinal adipose tissue from patients with coronary artery disease.","authors":"Giovanny Fuentevilla-Álvarez, Claudia Huesca-Gómez, Yazmín Estela Paz-Torres, Nadia González-Moyotl, María Elena Soto, José Antonio García-Valdivia, Reyna Sámano, Martín Martínez-Rosas, Sergio Enrique Meza-Toledo, Ricardo Gamboa","doi":"10.20945/2359-4292-2023-0188","DOIUrl":"10.20945/2359-4292-2023-0188","url":null,"abstract":"Objective: Recent studies have shown a relationship between adipose tissue and coronary artery disease (CAD). The ABCA1 transporter regulates cellular cholesterol content and reverses cholesterol transport. The aim of this study was to determine the relationship between single nucleotide polymorphisms (SNPs) R230C, C-17G, and C-69T and their expression in epicardial and mediastinal adipose tissue in Mexican patients with CAD.Subjects and methods: The study included 71 patients with CAD and a control group consisting of 64 patients who underwent heart valve replacement. SNPs were determined using TaqMan probes. mRNA was extracted using TriPure Isolation from epicardial and mediastinal adipose tissue. Quantification and expression analyses were done using RT-qPCR.Results: R230C showed a higher frequency of the GG genotype in the CAD group (70.4%) than the control group (57.8%) [OR 0.34, 95% CI (0.14-0.82) p = 0.014]. Similarly, C-17G (rs2740483) showed a statistically significant difference in the CC genotype in the CAD group (63.3%) in comparison to the controls (28.1%) [OR 4.42, 95% CI (2.13-9.16), p = 0.001]. mRNA expression in SNP R230C showed statistically significant overexpression in the AA genotype compared to the GG genotype in CAD patients [11.01 (4.31-15.24) vs. 3.86 (2.47-12.50), p = 0.015].Conclusion: The results suggest that the GG genotype of R230C and CC genotype of C-17G are strongly associated with the development of CAD in Mexican patients. In addition, under-expression of mRNA in the GG genotype in R230C is associated with patients undergoing revascularization.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e230188"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","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 effect of anastrozole therapy on final height and sex hormone levels in pubertal boys receiving growth hormone therapy. 阿那曲唑治疗对接受生长激素治疗的青春期男孩最终身高和性激素水平的影响。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2022-0524

Gürkan Tarçın, Cansu Koç, Hande Turan, Oya Ercan

{"title":"The effect of anastrozole therapy on final height and sex hormone levels in pubertal boys receiving growth hormone therapy.","authors":"Gürkan Tarçın, Cansu Koç, Hande Turan, Oya Ercan","doi":"10.20945/2359-4292-2022-0524","DOIUrl":"10.20945/2359-4292-2022-0524","url":null,"abstract":"Objective: This research aimed to evaluate retrospectively the effect of anastrozole on height gain and sex hormone levels in pubertal boys receiving growth hormone (GH).Materials and methods: Pubertal boys who received both GH and anastrozole (GH+A) were one-to-one matched with boys who received only GH (GH-Only) for chronological and bone age, pubertal stage and height before the GH initiation, treatment duration and midparental height. Anthropometric measurements throughout treatment and adult heights were compared between the groups. Sex hormone levels were evaluated longitudinally in the GH+A group.Results: Forty-eight cases (24 in each group) were included. There was no statistical difference in adult height between the GH+A and GH-Only (p = 0.071). However, when the analysis was limited to those receiving anastrozole for at least 2 years, mean adult height was higher in the GH+A than in the GH-Only group (173.1 ± 6.2/169.8 ± 5.6 cm, p = 0.044). Despite similar growth rates between the two groups, bone age advancement was slower in the GH+A than in the GH-Only in a mean anastrozole treatment period of 1.59 years (1.37 ± 0.80/1.81 ± 0.98 years, p = 0.001). The greatest increase for FSH, LH, total and free testosterone and decrease for estradiol levels were observed in the third month after anastrozole was started, albeit remaining within the normal ranges according to the actual pubertal stages.Conclusion: Using anastrozole with GH for at least 2 years decelerates the bone age advancement resulting in adult height gain with no abnormality in sex hormone levels. These results suggest anastrozole can be used as an additional treatment to GH for further height gain in pubertal boys.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e220524"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916834/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gonadotropin-secreting and thyrotropin-secreting pituitary adenomas: A single-center experience. 促性腺激素分泌和促甲状腺激素分泌垂体腺瘤:单中心经验。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2023-0072

Manjiri Karlekar, Chakra Diwaker, Vijaya Sarathi, Anurag Lila, Anima Sharma, Saba Samad Memon, Virendra Patil, Tushar Bandgar

{"title":"Gonadotropin-secreting and thyrotropin-secreting pituitary adenomas: A single-center experience.","authors":"Manjiri Karlekar, Chakra Diwaker, Vijaya Sarathi, Anurag Lila, Anima Sharma, Saba Samad Memon, Virendra Patil, Tushar Bandgar","doi":"10.20945/2359-4292-2023-0072","DOIUrl":"10.20945/2359-4292-2023-0072","url":null,"abstract":"Objective: Data regarding rare FPAs from India, a resource limited setting, are limited. We describe a case series of rare FPAs from a single center in western India.Materials and methods: This was a retrospective case record review of patients diagnosed between January 2010 and July 2022. The diagnosis was based on biochemical(inappropriately elevated serum FSH/LH) and pathologic (positive immunostaining for FSH/LH) features in patients with FGA, and elevated serum thyroid hormones and normal/elevated TSH in patients with TSHomas.Results: We identified 11 patients with a total of six FGAs (median age 43.5 years, five men, one FGA cosecreting TSH, median largest dimension 40 mm, range 33-60 mm) and six TSHomas (median age 34.5 years, four women, two TSHomas cosecreting GH, median largest dimension 42.5 mm, range 13-60 mm). Symptoms of sellar mass effects led to pituitary imaging in most patients with FGA. Patients with TSHomas had symptoms of excess hormone secretion (GH/TSH) or sellar mass effects. The TSHomas that cosecreted GH/FSH were larger than those secreting only TSH. Transsphenoidal resection was the most common first-line therapy but significant residual disease was frequent (3 out of 6 FGAs and 4 out of 5 TSHomas).Conclusion: This is the first and second case series of FGAs and TSHomas, respectively, from India. In this study, TSHomas presented at younger age, were larger andhad low surgical cure rates.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e230072"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916838/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis. 通过下一代测序分析研究非综合征性原发性卵巢ınsufficiency的分子遗传原因。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2022-0475

Eren Er, Semih Aşıkovalı, Hatice Özışık, Elif Sağsak, Damla GÖkşen, Hüseyin Onay, Füsun Saygılı, Şükran Darcan, Samim Özen

{"title":"Investigation of the molecular genetic causes of non-syndromic primary ovarian ınsufficiency by next generation sequencing analysis.","authors":"Eren Er, Semih Aşıkovalı, Hatice Özışık, Elif Sağsak, Damla GÖkşen, Hüseyin Onay, Füsun Saygılı, Şükran Darcan, Samim Özen","doi":"10.20945/2359-4292-2022-0475","DOIUrl":"10.20945/2359-4292-2022-0475","url":null,"abstract":"Objective: The aim of this study is to investigate the molecular genetic causes of non-syndromic primary ovarian insufficiency (POI) cases with the gene panel basedon next generation sequencing analysis and to establish the relationship between genotype and phenotype.Materials and methods: Twenty three cases aged 14-40 years followed up with POI were included. Patients with a karyotype of 46, XX, primary or secondary amenorrhea before the age of 40, with elevated FSH (>40 IU/mL) and low AMH levels (<0.03 ng/mL) were included in the study. Molecular genetic analyzes were performed by the next generation sequencing analysis method targeted with the TruSight TM Exome panel.Results: Median age of the cases was 17.8 (14.0-24.3) years, and 12 (52%) cases admitted before the age of 18. Fifteen (65%) patients had consanguineous parents. In2 (8.6%) cases, variants detected were in genes that have been previously proven to cause POI. One was homozygous variant in FIGLA gene and the other was homozygous variant in PSMC3IP gene. Heterozygous variants were detected in PROK2, WDR11 and CHD7 associated with hypogonadotropic hypogonadism, but these variants are insufficient to contribute to the POI phenotype.Conclusion: Genetic panels based on next generation sequencing analysis technologies can be used to determine the molecular genetic diagnosis of POI, which has a highly heterogeneous genetic basis.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e220475"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multiple immunoassay interference in a patient with falsely elevated calcitonin. 降钙素虚升高患者的多重免疫分析干扰。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-17 DOI: 10.20945/2359-4292-2023-0074

Mehmet Cagri Unal, Aslihan Cavunt Bayraktar, Tevfik Uslu, Serkan Yener

{"title":"Multiple immunoassay interference in a patient with falsely elevated calcitonin.","authors":"Mehmet Cagri Unal, Aslihan Cavunt Bayraktar, Tevfik Uslu, Serkan Yener","doi":"10.20945/2359-4292-2023-0074","DOIUrl":"10.20945/2359-4292-2023-0074","url":null,"abstract":"Calcitonin (CT) is a diagnostic and follow-up marker of medullary thyroid carcinoma. Heterophile antibodies (HAbs) may interfere during immunometric assay measurements and result in falsely high CT levels and different markers. A 50-year-old female patient was referred to our institution for elevated CT levels (3,199 pg/mL [0-11,5]). Physical examination and thyroid ultrasonography show no thyroid nodules. Because of the discrepancy between the clinical picture and the laboratory results, various markers and hormones were examined to determine whether there was any interference in the immunometric assay. Thyroglobulin (Tg) and Adrenocorticotropic hormone (ACTH) levels were also found inaccurately elevated. After precipitation with polyethylene glycol, CT, Tg, and ACTH levels markedly decreased, showing macro-aggregates. Also, serial dilutions showed non-linearity in plasma concentrations. Additionally, CT samples were pretreated with a heterophilic blocking tube before measuring, and the CT level decreased to < 0.1 pg/mL, suggesting a HAb presence. Immunoassay interference should be considered when conflicting laboratory data are observed. This may help reduce the amount of unnecessary laboratory and imaging studies and prevent patients from complex diagnostic procedures.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e230074"},"PeriodicalIF":1.7,"publicationDate":"2023-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916793/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138292416","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Histological findings and NAFLD/NASH Status in liver biopsies of patients subjected to bariatric surgery. 减肥手术患者肝活检的组织学发现和NAFLD/NASH状态。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-10 DOI: 10.20945/2359-4292-2022-0138

Marielle Malucelli, Rodrigo Strobel, Claudia Ivantes, Danielle Sakamoto, Márcio Luís Duarte, Maria Lucia Alves Pedroso

{"title":"Histological findings and NAFLD/NASH Status in liver biopsies of patients subjected to bariatric surgery.","authors":"Marielle Malucelli, Rodrigo Strobel, Claudia Ivantes, Danielle Sakamoto, Márcio Luís Duarte, Maria Lucia Alves Pedroso","doi":"10.20945/2359-4292-2022-0138","DOIUrl":"10.20945/2359-4292-2022-0138","url":null,"abstract":"Objective: To investigate nonalcoholic fatty liver disease (NAFLD), nonalcoholic steatohepatitis (NASH) and hepatic fibrosis in biopsies of people with obesity who underwent bariatric surgery and examine the possible association of different variables with a diagnosis of NAFLD and NASH.Materials and methods: Epidemiological, clinical and laboratory data from 574 individuals with obesity of both genders seen by the same physician between 2003 and 2009 who had a liver biopsy during bariatric surgery were examined.Results: Of the 437 patients included, 39.8% had some degree of liver fibrosis, 95% had a histologic diagnosis of NAFLD, and the risk factors were age ≥ 28 years and Homeostatic Model Assessment (HOMA) ≥ 2.5 (p = 0.001 and p = 0.016, respectively). In the NAFLD group, NASH was present in 26% of patients and the associated factors were aspartate aminotransferase and alanine aminotransferase index (AST/ALT) > 1, high-density lipoprotein cholesterol (HDL-c) < 40 mg/dL, total cholesterol (TC) ≥ 200 mg/dL, gamma-glutamyl transferase (GGT) > 38 U/L and triglycerides (TG) levels > 150 mg/dL. The independent risk factors were low HDL-c, elevated AST/ALT and high TG.Conclusion: The variables associated with a diagnosis of NAFLD were HOMA ≥ 2.5 and age ≥ 28 years. NASH was associated with low HDL-c, high TG and AST/ALT ≤ 1.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e220138"},"PeriodicalIF":1.7,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72211916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension. 糖尿病和高血压妇女血管紧张素转换酶、肌动蛋白3和对氧磷酶1基因的遗传多态性。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-10 DOI: 10.20945/2359-4292-2021-0204

Gabrielle Gaspar Arejano, Laura Vargas Hoffmann, Linoska Ferreira Wyse, Poliana Espíndola Correia, Simone Pieniz, Fabiana Torma Botelho, Augusto Schneider, Ines Schadock, Carlos Castilho Barros

{"title":"Genetic polymorphisms in the angiotensin converting enzyme, actinin 3 and paraoxonase 1 genes in women with diabetes and hypertension.","authors":"Gabrielle Gaspar Arejano, Laura Vargas Hoffmann, Linoska Ferreira Wyse, Poliana Espíndola Correia, Simone Pieniz, Fabiana Torma Botelho, Augusto Schneider, Ines Schadock, Carlos Castilho Barros","doi":"10.20945/2359-4292-2021-0204","DOIUrl":"10.20945/2359-4292-2021-0204","url":null,"abstract":"Objective: To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 T(-107)C) genes and chronic diseases (diabetes and hypertension) in women.Materials and methods: Genomic DNA was extracted from saliva samples of 78 women between 18 and 59 years old used for genetic polymorphism screening. Biochemical data were collected from the medical records in Basic Health Units from Southern Brazil. Questionnaires about food consumption, physical activity level and socioeconomic status were applied.Results: The XX genotype of ACTN3 was associated with low HDL levels and high triglycerides, total cholesterol and glucose levels. Additionally, high triglycerides and LDL levels were observed in carriers of the TT genotype of PON1, and lower total cholesterol levels were associated to the CC genotype. As expected, women with diabetes/hypertense had increased body weight, BMI (p = 0.02), waist circumference (p = 0.01), body fat percentage, blood pressure (p = 0.02), cholesterol, triglycerides (p = 0.02), and blood glucose (p = 0.01), when compared to the control group.Conclusion: Both ACTN3 R577X and PON1 T(-107)C polymorphisms are associated with nutritional status and blood glucose and lipid levels in women with diabetes/hypertense. These results contribute to genetic knowledge about predisposition to obesity-related diseases.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e210204"},"PeriodicalIF":1.7,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916801/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72211915","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic value of a computer-assisted diagnosis system for the ultrasound features in thyroid nodules. 计算机辅助诊断系统对甲状腺结节超声特征的诊断价值。

IF 1.7 4区医学

Archives of Endocrinology Metabolism Pub Date : 2023-11-10 DOI: 10.20945/2359-4292-2022-0501

Yiwei Wang, Ming Yu, Minliang He, Ganjun Zhang, Libo Zhang, Bo Zhang

{"title":"Diagnostic value of a computer-assisted diagnosis system for the ultrasound features in thyroid nodules.","authors":"Yiwei Wang, Ming Yu, Minliang He, Ganjun Zhang, Libo Zhang, Bo Zhang","doi":"10.20945/2359-4292-2022-0501","DOIUrl":"10.20945/2359-4292-2022-0501","url":null,"abstract":"Objective: To explore the diagnostic value of the TUIAS (SW_TH01/II) computer-aided diagnosis (CAD) software system for the ultrasound Thyroid Imaging Reporting and Data System (TI-RADS) features in thyroid nodules.Materials and methods: This retrospective study enrolled patients with thyroid nodules in Shanghai East Hospital between January 2017 and October 2021. The novel CAD software (SW_TH01/II) and three sonographers performed a qualitative analysis of the ultrasound TI-RADS features in aspect ratio, margin irregularity, margin smoothness, calcification, and echogenicity of the thyroid nodules.Results: A total of 225 patients were enrolled. The accuracy, sensitivity, and specificity of the CAD software in \"aspect ratio\" were 95.6%, 96.2%, and 95.4%, in \"margin irregularity\" were 90.7%, 90.5%, and 90.9%, in \"margin smoothness\" were 85.8%, 88.5%, and 83.0%, in \"calcification\" were 83.6%, 81.7%, and 82.0%, in \"homogeneity\" were 88.9%, 90.6%, and 82.2%, in \"major echo\" were 85.3%, 88.0%, and 85.4%, and in \"contains very hypoechoic echo\" were 92.0%, 90.0%, and 92.4%. The analysis time of the CAD software was significantly shorter than for the sonographers (2.7 ± 1.6 vs. 29.7 ± 12.7 s, P < 0.001).Conclusion: The CAD system achieved high accuracy in describing thyroid nodule features. It might assist in clinical thyroid nodule analysis.","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"68 ","pages":"e220501"},"PeriodicalIF":1.7,"publicationDate":"2023-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10916796/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72211912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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