cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.8987981
title: Familial aggregation and heritability of markers of metabolic risk, physical activity, and physical fitness in nuclear families from Muzambinho (Minas Gerais, Brazil)

description: ABSTRACT Objective This study investigated the familial aggregation and heritability of markers of metabolic risk, physical activity, and physical fitness in nuclear families from Muzambinho (Minas Gerais, Brazil). Subjects and methods The study included members of 139 families, comprising 97 fathers (aged 40 ± 7 years), 129 mothers (35 ± 6 years), 136 sons (12 ± 4 years), and 121 daughters (12 ± 5 years). Evaluated markers included (A) body mass index, waist circumference, glycemia, and cholesterolemia, as metabolic risk markers; (B) total weekly volume of physical activity, as a physical activity marker; and (C) relative muscle strength, as a physical fitness marker. Correlations between family members and heritability (h2) were estimated using the software S.A.G.E. Results Significant familial correlations were obtained between parents-offspring for glycemia and cholesterolemia (both ρ = 0.21, p &lt; 0.05) and relative muscle strength (ρ = 0.23, p &lt; 0.05), and between siblings for waist circumference, glycemia, total weekly volume of physical activity, and relative muscle strength (ρ variation 0.25 to 0.36, p &lt; 0.05). Heritability values were significant for almost all variables (h2 variations: 20% to 57% for metabolic risk markers, 22% for the total weekly volume of physical activity, and 50% for relative muscle strength), except for waist circumference (h2 = 15%, p = 0.059). Conclusion The presence of significant correlations between family members and/or significant heritability strengthens the possible genetic and/or common familial environment influence on metabolic risk markers, total weekly volume of physical activity, and relative muscle strength.
DOI: 10.6084/m9.figshare.8987981.v1
title: Familial aggregation and heritability of markers of metabolic risk, physical activity, and physical fitness in nuclear families from Muzambinho (Minas Gerais, Brazil)

description: ABSTRACT Objective This study investigated the familial aggregation and heritability of markers of metabolic risk, physical activity, and physical fitness in nuclear families from Muzambinho (Minas Gerais, Brazil). Subjects and methods The study included members of 139 families, comprising 97 fathers (aged 40 ± 7 years), 129 mothers (35 ± 6 years), 136 sons (12 ± 4 years), and 121 daughters (12 ± 5 years). Evaluated markers included (A) body mass index, waist circumference, glycemia, and cholesterolemia, as metabolic risk markers; (B) total weekly volume of physical activity, as a physical activity marker; and (C) relative muscle strength, as a physical fitness marker. Correlations between family members and heritability (h2) were estimated using the software S.A.G.E. Results Significant familial correlations were obtained between parents-offspring for glycemia and cholesterolemia (both ρ = 0.21, p &lt; 0.05) and relative muscle strength (ρ = 0.23, p &lt; 0.05), and between siblings for waist circumference, glycemia, total weekly volume of physical activity, and relative muscle strength (ρ variation 0.25 to 0.36, p &lt; 0.05). Heritability values were significant for almost all variables (h2 variations: 20% to 57% for metabolic risk markers, 22% for the total weekly volume of physical activity, and 50% for relative muscle strength), except for waist circumference (h2 = 15%, p = 0.059). Conclusion The presence of significant correlations between family members and/or significant heritability strengthens the possible genetic and/or common familial environment influence on metabolic risk markers, total weekly volume of physical activity, and relative muscle strength.
DOI: 10.6084/m9.figshare.8986742
title: Paraoxonase 1 serum activity in women: the effects of menopause, the C(-107)T polymorphism and food intake

description: ABSTRACT Objective The aims of this study were to investigate changes in serum paraoxonase 1 (PON1) activity in women at the pre and postmenopausal stages and its association with the PON1 C(-107)T polymorphism and food intake profile. Subjects and methods A cross-sectional study with female patients aged between 35 and 59 years old was conducted. Women were divided into two groups: premenopausal (n = 40) and postmenopausal (n = 36). Women enrolled in the study had serum PON1, total cholesterol, HDL, LDL, glucose and HbA1c, as well as the BMI measured. Additionally, women were genotyped for the PON1 T(-107)C polymorphism and the food intake profile was obtained through interview. Results Glucose (p = 0.03), HbA1c (p = 0.002) and total cholesterol (p = 0.002)concentrations were higher in post than premenopausal women, however PON1 activity was not different (p &gt; 0.05). Carriers of the C allele had higher PON1 activity (CC: 88.9 ± 6.5 U/mL and CT: 79.9 ± 4.7 U/mL) than women of the TT genotype (66.6 ± 5.9 U/mL) (p &lt; 0.05). However, the model predicting PON1 activity was slightly better when genotype, total fat and cholesterol content in the diet were all included. Conclusion In sum, we observed that the PON1 C(-107)T genotype was the major regulator of PON1 activity, and menopause had no effect on PON1 activity. The lipid and glycemic profile were altered in postmenopausal women.
DOI: 10.6084/m9.figshare.8986742.v1
title: Paraoxonase 1 serum activity in women: the effects of menopause, the C(-107)T polymorphism and food intake

description: ABSTRACT Objective The aims of this study were to investigate changes in serum paraoxonase 1 (PON1) activity in women at the pre and postmenopausal stages and its association with the PON1 C(-107)T polymorphism and food intake profile. Subjects and methods A cross-sectional study with female patients aged between 35 and 59 years old was conducted. Women were divided into two groups: premenopausal (n = 40) and postmenopausal (n = 36). Women enrolled in the study had serum PON1, total cholesterol, HDL, LDL, glucose and HbA1c, as well as the BMI measured. Additionally, women were genotyped for the PON1 T(-107)C polymorphism and the food intake profile was obtained through interview. Results Glucose (p = 0.03), HbA1c (p = 0.002) and total cholesterol (p = 0.002)concentrations were higher in post than premenopausal women, however PON1 activity was not different (p &gt; 0.05). Carriers of the C allele had higher PON1 activity (CC: 88.9 ± 6.5 U/mL and CT: 79.9 ± 4.7 U/mL) than women of the TT genotype (66.6 ± 5.9 U/mL) (p &lt; 0.05). However, the model predicting PON1 activity was slightly better when genotype, total fat and cholesterol content in the diet were all included. Conclusion In sum, we observed that the PON1 C(-107)T genotype was the major regulator of PON1 activity, and menopause had no effect on PON1 activity. The lipid and glycemic profile were altered in postmenopausal women.
DOI: 10.6084/m9.figshare.8986874
title: An early stage in T4-induced hyperthyroidism is related to systemic oxidative stress but does not influence the pentose cycle in erythrocytes and systemic inflammatory status

description: ABSTRACT Objective Hyperthyroidism causes many injuries in its target organs and the consequences are reflected systemically. As systemic alterations in hyperthyroidism at earlier stages have received partial attention, this study aimed to investigate systemic redox and inflammatory status at an early stage of T4-induced hyperthyroidism. Materials and methods Male Wistar rats were assigned to control and hyperthyroid groups (n = 7/group). The hyperthyroid group received L-thyroxine (12 mg/L) in their drinking water for 14 days whereas control group received only the vehicle. Body weight was measured on the 1st and 14th day of the protocol. On the 14th day, animals were anaesthetized. Blood was then collected from the retro-orbital venous plexus and then the animals were euthanised. The blood was separated into plasma and erythrocytes. Plasma was used to measure ROS levels, sulfhydryl compounds, IL-10, TNF-α and LDH levels; erythrocytes were used for the analysis of thioredoxin reductase activity, glutaredoxin content, and pentose cycle enzymes (total G6PD, G6PD and 6PGD). Results Hyperthyroid animals presented body weight gain and final body weight reduction, which was associated with increased ROS levels and decreased sulfhydryl content in plasma. Thioredoxin reductase activity, glutaredoxin content, and pentose cycle enzymes levels in erythrocytes, as well as IL-10, TNF-α and LDH plasma levels were unaltered. Conclusion Taken together, our results suggest an impairment in corporal mass associated with systemic oxidative stress at this stage of hyperthyroidism. Meanwhile, the pentose cycle was not influenced and systemic inflammation and tissue damage seem to be absent at this stage of hyperthyroidism.
DOI: 10.6084/m9.figshare.8986874.v1
title: An early stage in T4-induced hyperthyroidism is related to systemic oxidative stress but does not influence the pentose cycle in erythrocytes and systemic inflammatory status

description: ABSTRACT Objective Hyperthyroidism causes many injuries in its target organs and the consequences are reflected systemically. As systemic alterations in hyperthyroidism at earlier stages have received partial attention, this study aimed to investigate systemic redox and inflammatory status at an early stage of T4-induced hyperthyroidism. Materials and methods Male Wistar rats were assigned to control and hyperthyroid groups (n = 7/group). The hyperthyroid group received L-thyroxine (12 mg/L) in their drinking water for 14 days whereas control group received only the vehicle. Body weight was measured on the 1st and 14th day of the protocol. On the 14th day, animals were anaesthetized. Blood was then collected from the retro-orbital venous plexus and then the animals were euthanised. The blood was separated into plasma and erythrocytes. Plasma was used to measure ROS levels, sulfhydryl compounds, IL-10, TNF-α and LDH levels; erythrocytes were used for the analysis of thioredoxin reductase activity, glutaredoxin content, and pentose cycle enzymes (total G6PD, G6PD and 6PGD). Results Hyperthyroid animals presented body weight gain and final body weight reduction, which was associated with increased ROS levels and decreased sulfhydryl content in plasma. Thioredoxin reductase activity, glutaredoxin content, and pentose cycle enzymes levels in erythrocytes, as well as IL-10, TNF-α and LDH plasma levels were unaltered. Conclusion Taken together, our results suggest an impairment in corporal mass associated with systemic oxidative stress at this stage of hyperthyroidism. Meanwhile, the pentose cycle was not influenced and systemic inflammation and tissue damage seem to be absent at this stage of hyperthyroidism.
DOI: 10.6084/m9.figshare.8987237
title: Renal resistive index in patients with polycystic ovary syndrome

description: ABSTRACT Objective: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The renal resistive index (RRI) is a measure of renal arterial resistance to blood flow. The aim of this study was to investigate the renal resistive index levels of patients with PCOS. Subjects and methods: A total of 216 women were included in this cross-sectional study. The study group consisted of 109 patients with PCOS, and the control group consisted of 107 healthy subjects. The RRI of all subjects was measured using renal Doppler ultrasonography. Results: The patients with PCOS had higher RRI levels in comparison to the healthy subjects (0.64 ± 0.06 vs. 0.57 ± 0.06, p &lt; 0.001). The RRI levels of the patients with PCOS were correlated with systolic blood pressure (p = 0.004, r = 0.268) and with homeostasis model assessment of insulin resistance (HOMA-IR) (p = 0.02, r = 0.216). Conclusion: In this study, we observed higher RRI levels in patients with PCOS. High RRI levels may be an indicator of cardiovascular and/or cardiovascular-associated diseases in patients with PCOS.
DOI: 10.6084/m9.figshare.8987237.v1
title: Renal resistive index in patients with polycystic ovary syndrome

description: ABSTRACT Objective: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The renal resistive index (RRI) is a measure of renal arterial resistance to blood flow. The aim of this study was to investigate the renal resistive index levels of patients with PCOS. Subjects and methods: A total of 216 women were included in this cross-sectional study. The study group consisted of 109 patients with PCOS, and the control group consisted of 107 healthy subjects. The RRI of all subjects was measured using renal Doppler ultrasonography. Results: The patients with PCOS had higher RRI levels in comparison to the healthy subjects (0.64 ± 0.06 vs. 0.57 ± 0.06, p &lt; 0.001). The RRI levels of the patients with PCOS were correlated with systolic blood pressure (p = 0.004, r = 0.268) and with homeostasis model assessment of insulin resistance (HOMA-IR) (p = 0.02, r = 0.216). Conclusion: In this study, we observed higher RRI levels in patients with PCOS. High RRI levels may be an indicator of cardiovascular and/or cardiovascular-associated diseases in patients with PCOS.
DOI: 10.6084/m9.figshare.8986745.v1
title: In properly selected patients with differentiated thyroid cancer, antithyroglobulin antibodies decline after thyroidectomy and their sole presence should not be an indication for radioiodine ablation

description: ABSTRACT Objective Our objective was to evaluate the trend of antithyroglobulin antibodies (TgAb) during follow-up of patients with differentiated thyroid cancer (DTC) treated without RAI, as well as their role in the risk of recurrence. Subjects and methods This was a prospective, descriptive study. A total of 152 consecutive patients with DTC treated in a single institution undergoing total thyroidectomy without RAI and followed for a median of 2.3 years (0.5-10.3) were divided in two groups: TgAb(-) (n = 111) and TgAb(+) (n = 41). Patients were classified according to AJCC 7th and 8th editions, as well as to their risk of recurrence and response to treatment categories. Results Both groups, TgAb(-) and TgAb(+), were similar regarding patient and tumor characteristics. At the end of follow-up, 90 (59.2%), 57 (37.5%), 3 (2%) and 2 (1.3%) patients achieved excellent, indeterminate, biochemically incomplete and structurally incomplete response, respectively. The risk of structural recurrence was similar in both groups (TgAb[-] 0.9% vs. TgAb[+] 2.4%, p = 0.46). In the TgAb(+) group, TgAb became negative in 10 (24.4%), decreased ≥ 50% without negativization in 25 (60.9%), decreased &lt; 50% in 4 (9.8%) and remained stable or increased in 2 (4.9%) cases. The only incomplete structural response had increasing TgAb during follow-up. Conclusions In properly selected patients with DTC, TgAb concentration immediately after total thyroidectomy should not mandate RAI ablation, and their trend during follow-up may impact the risk of recurrence.
DOI: 10.6084/m9.figshare.8986745
title: In properly selected patients with differentiated thyroid cancer, antithyroglobulin antibodies decline after thyroidectomy and their sole presence should not be an indication for radioiodine ablation

description: ABSTRACT Objective Our objective was to evaluate the trend of antithyroglobulin antibodies (TgAb) during follow-up of patients with differentiated thyroid cancer (DTC) treated without RAI, as well as their role in the risk of recurrence. Subjects and methods This was a prospective, descriptive study. A total of 152 consecutive patients with DTC treated in a single institution undergoing total thyroidectomy without RAI and followed for a median of 2.3 years (0.5-10.3) were divided in two groups: TgAb(-) (n = 111) and TgAb(+) (n = 41). Patients were classified according to AJCC 7th and 8th editions, as well as to their risk of recurrence and response to treatment categories. Results Both groups, TgAb(-) and TgAb(+), were similar regarding patient and tumor characteristics. At the end of follow-up, 90 (59.2%), 57 (37.5%), 3 (2%) and 2 (1.3%) patients achieved excellent, indeterminate, biochemically incomplete and structurally incomplete response, respectively. The risk of structural recurrence was similar in both groups (TgAb[-] 0.9% vs. TgAb[+] 2.4%, p = 0.46). In the TgAb(+) group, TgAb became negative in 10 (24.4%), decreased ≥ 50% without negativization in 25 (60.9%), decreased &lt; 50% in 4 (9.8%) and remained stable or increased in 2 (4.9%) cases. The only incomplete structural response had increasing TgAb during follow-up. Conclusions In properly selected patients with DTC, TgAb concentration immediately after total thyroidectomy should not mandate RAI ablation, and their trend during follow-up may impact the risk of recurrence.
DOI: 10.6084/m9.figshare.8988200
title: Diagnostic performance of thyroid ultrasound in Hürthle cell carcinomas

description: ABSTRACT Objective Hürthle cell carcinomas (HCCs) of the thyroid have been recently reclassified as a separate entity due to their distinct clinical and molecular profiles. Few studies have assessed the ability of preoperative characteristics in differentiating HCCs from Hürthle cell adenomas (HCAs) due to the low prevalence of both lesions. This study aimed to compare the preoperative features of HCCs and HCAs and evaluate the diagnostic performance of ultrasound in distinguishing between both. Subjetcs and methods Retrospective study including 101 patients (52 HCCs and 49 HCAs) who underwent thyroid surgery from 2000 to 2016. Clinical, ultrasonographic, and histological data were reviewed. Diagnostic performance of suspicious sonographic features was analyzed in 51 cases (24 HCCs and 27 HCAs). Results Hürthle cell neoplasms were predominant in females. Subjects ≥ 55 years represented 58% of the cases of HCCs and 53% of those of HCAs. Carcinomas were significantly larger (p &lt; 0.001), and a tumor size ≥ 4 cm significantly increased the risk of malignancy (odds ratio 3.67). Other clinical, cytologic, and sonographic data were similar between HCCs and HCAs. Among the HCCs, the lesions were purely solid in 54.2%, hypoechoic in 37.5%, and had coarse calcifications in 12.5%, microcalcifications in 8.3%, irregular contours in 4.2%, and a taller-than-wide shape in 16.7%. Predominantly/exclusive intranodular vascularization was observed in 52.6%. Overall, 58% of the HCCs were classified as TI-RADS 4 or 5 compared with 48% of the HCAs. TI-RADS 4 or 5 had a specificity of only 51.8% and a positive likelihood ratio of 1.21. Conclusions Apart from the lesion size, no other preoperative feature adequately distinguished HCCs from HCAs. Sonographic characteristics raising suspicion for malignancy, which are mostly present in papillary carcinomas, were infrequent in HCCs. New tools must be developed to improve preoperative diagnosis and deferral of surgery in cases of adenomas.
DOI: 10.6084/m9.figshare.8988200.v1
title: Diagnostic performance of thyroid ultrasound in Hürthle cell carcinomas

description: ABSTRACT Objective Hürthle cell carcinomas (HCCs) of the thyroid have been recently reclassified as a separate entity due to their distinct clinical and molecular profiles. Few studies have assessed the ability of preoperative characteristics in differentiating HCCs from Hürthle cell adenomas (HCAs) due to the low prevalence of both lesions. This study aimed to compare the preoperative features of HCCs and HCAs and evaluate the diagnostic performance of ultrasound in distinguishing between both. Subjetcs and methods Retrospective study including 101 patients (52 HCCs and 49 HCAs) who underwent thyroid surgery from 2000 to 2016. Clinical, ultrasonographic, and histological data were reviewed. Diagnostic performance of suspicious sonographic features was analyzed in 51 cases (24 HCCs and 27 HCAs). Results Hürthle cell neoplasms were predominant in females. Subjects ≥ 55 years represented 58% of the cases of HCCs and 53% of those of HCAs. Carcinomas were significantly larger (p &lt; 0.001), and a tumor size ≥ 4 cm significantly increased the risk of malignancy (odds ratio 3.67). Other clinical, cytologic, and sonographic data were similar between HCCs and HCAs. Among the HCCs, the lesions were purely solid in 54.2%, hypoechoic in 37.5%, and had coarse calcifications in 12.5%, microcalcifications in 8.3%, irregular contours in 4.2%, and a taller-than-wide shape in 16.7%. Predominantly/exclusive intranodular vascularization was observed in 52.6%. Overall, 58% of the HCCs were classified as TI-RADS 4 or 5 compared with 48% of the HCAs. TI-RADS 4 or 5 had a specificity of only 51.8% and a positive likelihood ratio of 1.21. Conclusions Apart from the lesion size, no other preoperative feature adequately distinguished HCCs from HCAs. Sonographic characteristics raising suspicion for malignancy, which are mostly present in papillary carcinomas, were infrequent in HCCs. New tools must be developed to improve preoperative diagnosis and deferral of surgery in cases of adenomas.
DOI: 10.6084/m9.figshare.9739520
title: Pheochromocytoma and paraganglioma: implications of germline mutation investigation for treatment, screening, and surveillance

description: ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the context of a hereditary syndrome. We aimed to characterize PGL/PCC families to exemplify the different scenarios in which hereditary syndromes can be suspected and to emphasize the importance for patients and their families of making an opportune genetic diagnosis. Materials and methods Retrospective analysis of patients diagnosed with PGL/PCC. Germline mutations were studied using next-generation sequencing panels including SDHA, SDHB, SDHC and SDHD. Clinical data were collected from clinical records, and all patients received genetic counseling. Results We describe 4 families with PGL/PCC and germline mutations in SDH complex genes. 2 families have SDHB mutations and 2 SDHD mutations. The clinical presentation of the patients and their families was heterogeneous, with some being atypical according to the literature. Conclusions PGL/PCC are more commonly associated with a germline mutation than any other cancer type, therefore, all individuals with these types of tumors should undergo genetic risk evaluation. NGS multigene panel testing is a cost-effective approach given the overlapping phenotypes. Individuals with germline mutations associated with PGL/PCC should undergo lifelong clinical, biochemical and imaging surveillance and their families should undergo genetic counseling. For all these reasons, it is critical that all medical staff can suspect and diagnose these inherited cancer predisposition syndromes.