cometadata/datacite-titles-descriptions-related-identifiers huggingface dataset:
DOI: 10.6084/m9.figshare.8987159.v1
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.
DOI: 10.6084/m9.figshare.8987165.v1
title: Mollusks associated with the Avicennia schaueriana (Magnoliophyta: Acanthaceae) roots of a hypersaline estuary in northeastern Brazil

description: Abstract Aim Avicennia schaeuriana is one of the six species that composes the mangrove forests of Brazil and form mangrove fringes along waterways. The mangrove-roots of the A. schaeuriana act as one of the microhabitats used by the invertebrate biodiversity of the estuarine ecosystem. The present note aimed to inventory the malacofauna associated with roots of Avicennia schaueriana of the hypersaline and inverse estuary, highlighting variations in abundance and diversity along a salinity gradient and different seasonal periods. Methods Three sampling stations were delineated along the course of the estuary. At each station 3 transects of 10 meters were placed, and for each of them 3 sample points were selected, and at each point 3 samples of roots of A. schaueriana were obtained. A total of 108 samples were stored in plastic bags containing 4% formaldehyde and subsequently passed through a screening process, with identification of the associated specimens with the lowest possible taxonomic level. Results A total of 171 specimens was recorded, belonging to 10 species, 7 families, and 9 genera of the Bivalvia and Gastropoda classes. The abundance of the specimens differed between the seasonal periods analyzed. Conclusions The highest species richness and abundance of organisms in the rainy period allows inferences about the importance of the estuarine water cycle in regulating the biodiversity of these environments. Thus, the importance of the maintenance and protection of the mangrove forests composed of A. schaueriana, as well as the need for more in-depth studies becomes evident.
DOI: 10.6084/m9.figshare.8987153
title: Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)

description: ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G&gt;A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas.
DOI: 10.6084/m9.figshare.8987156.v1
title: Mentha arvensis IN OIL SOLID-LIQUID EQUILIBRIUM

description: ABSTRACT L-menthol is an essential oil produced from Mentha arvensis. An experimental L-menthol solid-liquid equilibrium in menthol oil constituents was determined in the temperature range between 271 K and 300 K, by the method of creating a saturated solution at a given temperature by using an excess of crystals in the suspension. The mole fraction of the experimental data, on a logarithmic basis, were fitted against T by the Apelblat equation and by a linear equation with good results. The equations were: ln(x) =#091;- 52.45 + 1,170.70/T + 8.48.ln(T) #093; and ln(x) = 3.98 -1,249.65/T with T in K. Both equations give a good correlation with the experimental data. From the Apelblat equation the enthalpy of solution was also calculated as a linear function of temperature and has an average value of 150.31 J/mol in the temperature interval studied.
DOI: 10.6084/m9.figshare.8987147
title: Association of measures of central fat accumulation indices with body fat distribution and metabolic, hormonal, and inflammatory parameters in women with polycystic ovary syndrome

description: ABSTRACT Objective To investigate the associations among visceral adiposity index (VAI), lipid accumulation product (LAP), body fat percentage (%), and android/gynoid ratio (A/G ratio) in women with polycystic ovary syndrome (PCOS) and verify if the parameters representative of visceral obesity correlate with and exhibit the same frequency as body composition variables; anthropometric indices; and metabolic, hormonal, and inflammatory parameters. Subjects and methods This was a cross-sectional study that included 94 women with PCOS. Hormonal, metabolic, and inflammatory parameters were analyzed in all women. Free androgen index (FAI) and homeostasis model assessment (HOMA-IR), as well as LAP, VAI, and anthropometric indices, were calculated. The regions of interest (ROIs) in body composition and body composition indices were evaluated using a dual X-ray absorptiometry (DXA). Overall, 32 variables were selected as markers of body fat distribution. Results Among the 32 markers evaluated, 29 correlated with LAP, whereas 25 correlated with VAI, 19 with body fat (%), and 30 with A/G ratio. Additionally, some markers correlated with the four adiposity indices evaluated: ROIs, except for total mass and leg fat (%); body composition (body mass index, waist circumference, and hip circumference) indices; fasting insulin; and C-reactive protein. Conclusion LAP and VAI may be sensitive measures for screening and preventing metabolic syndrome and insulin resistance in PCOS, with LAP being more sensitive than VAI, and the A/G ratio may be more sensitive than body fat percentage.
DOI: 10.6084/m9.figshare.8987150
title: Metabolic phenotypes of obese, overweight, and normal weight individuals and risk of chronic kidney disease: a systematic review and meta-analysis

description: ABSTRACT Objective Chronic kidney disease (CKD) risk is inconsistent in the normal-weight, overweight, and obese individuals due to the heterogeneity of metabolic status. This meta-analysis aimed to examine the combined effects of body mass index (BMI) and metabolic status on CKD risk. Materials and methods The MEDLINE, EMBASE, and Web of Knowledge databases were systematically searched up to March 2019 to identify all eligible studies investigating the CKD risk (defined as GFR &lt; 60 mL/min per 1.73 m2 and/or microalbuminuria or proteinuria) associated with the body size phenotypes which are known as metabolically unhealthy normal-weight (MUNW), metabolically healthy overweight (MHOW), metabolically unhealthy overweight, metabolically healthy obese (MHO) and metabolically unhealthy obese (MUHO). The classification of subjects in included studies as metabolically unhealthy was based on the presence of three components of metabolic syndrome. BMI categorization was based on the criteria of included studies. The risk estimates and 95% confidence intervals (CIs) were extracted and pooled using random effects analysis. Results A total of 9 prospective cohort studies with 128773 participants and 4797 incident cases were included in the meta-analysis. Compared with healthy normal-weight individuals as reference, MUNW and MHO subjects showed an increased risk for CKD events with a pooled RR of 1.58 (95% CI = 1.28-1.96) in MUNW and 1.55 (95% CI = 1.34-1.79) in MHO persons. Also, MHOW was at increased risk for CKD (RR = 1.34, 95% CI = 1.20-1.51). MUHO individuals were at the highest risk for the development of CKD (RR = 2.13, 95% CI = 1.66-2.72). Conclusions Individuals with metabolic abnormality, although at normal-weight, have an increased risk for CKD. Healthy overweight and obese individuals had higher risk; refuting the notion that metabolically healthy overweight and obese phenotypes are benign conditions.
DOI: 10.6084/m9.figshare.8987144
title: Prediction of bone mass changes after successful parathyroidectomy using biochemical markers of bone metabolism in primary hyperparathyroidism: is it clinically useful?

description: ABSTRACT Objective To measure type 1 serum amino-terminal propeptide procollagen (P1NP) and type 1 cross-linked C-terminal telopeptide collagen (CTX) before parathyroidectomy (PTX) in PHPT patients, correlating these measurements with bone mineral density (BMD) changes. Subjects and methods 31 primary hyperparathyroidism (HPTP) were followed from diagnosis up to 12-18 months after surgery. Serum levels of calcium, parathyroid hormone (PTH) vitamin D, CTX, P1NP, and BMD were measured before and 1 year after surgery. Results One year after PTX, the mean BMD increased by 8.6%, 5.5%, 5.5%, and 2.2% in the lumbar spine, femoral neck (FN), total hip (TH), and distal third of the nondominant radius (R33%), respectively. There was a significant correlation between BMD change 1 year after the PTX and CTX (L1-L4: r = 0.614, p &lt; 0.0003; FN: r = 0.497, p &lt; 0.0051; TH: r = 0.595, p &lt; 0.0005; R33%: r = 0.364, p &lt; 0.043) and P1NP (L1-L4: r = 0,687, p &lt; 0,0001; FN: r = 0,533, p &lt; 0,0024; TH: r = 0,642, p &lt; 0,0001; R33%: r = 0,467, p &lt; 0,0079) preoperative levels. The increase in 25(OH)D levels has no correlation with BMD increase (r = -0.135; p = 0.4816). On linear regression, a minimum preoperative CTX value of 0.331 ng/mL or P1NP of 37.9 ng/mL was associated with a minimum 4% increase in L1-L4 BMD. In TH, minimum preoperative values of 0.684 ng/mL for CTX and 76.0 ng/mL for P1NP were associated with a ≥ 4% increase in BMD. Conclusion PHPT patients presented a significant correlation between preoperative levels of turnover markers and BMD improvement 1 year after PTX.
DOI: 10.6084/m9.figshare.8987147.v1
title: Association of measures of central fat accumulation indices with body fat distribution and metabolic, hormonal, and inflammatory parameters in women with polycystic ovary syndrome

description: ABSTRACT Objective To investigate the associations among visceral adiposity index (VAI), lipid accumulation product (LAP), body fat percentage (%), and android/gynoid ratio (A/G ratio) in women with polycystic ovary syndrome (PCOS) and verify if the parameters representative of visceral obesity correlate with and exhibit the same frequency as body composition variables; anthropometric indices; and metabolic, hormonal, and inflammatory parameters. Subjects and methods This was a cross-sectional study that included 94 women with PCOS. Hormonal, metabolic, and inflammatory parameters were analyzed in all women. Free androgen index (FAI) and homeostasis model assessment (HOMA-IR), as well as LAP, VAI, and anthropometric indices, were calculated. The regions of interest (ROIs) in body composition and body composition indices were evaluated using a dual X-ray absorptiometry (DXA). Overall, 32 variables were selected as markers of body fat distribution. Results Among the 32 markers evaluated, 29 correlated with LAP, whereas 25 correlated with VAI, 19 with body fat (%), and 30 with A/G ratio. Additionally, some markers correlated with the four adiposity indices evaluated: ROIs, except for total mass and leg fat (%); body composition (body mass index, waist circumference, and hip circumference) indices; fasting insulin; and C-reactive protein. Conclusion LAP and VAI may be sensitive measures for screening and preventing metabolic syndrome and insulin resistance in PCOS, with LAP being more sensitive than VAI, and the A/G ratio may be more sensitive than body fat percentage.
DOI: 10.6084/m9.figshare.8987153.v1
title: Pituitary gigantism: a case series from Hospital de San José (Bogotá, Colombia)

description: ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patients with gigantism evaluated at the Endocrinology Service of Hospital de San José (Bogotá, Colombia) between 2010 and 2016. Results All patients had macroadenomas and their mean final height was 2.01 m. The mean age at diagnosis was 16 years, and the most common symptoms were headache (66%) and hyperhidrosis (66%). All patients had acral changes, and one had visual impairment secondary to compression of the optic chiasm. All patients underwent surgery, and 5 (83%) required additional therapy for biochemical control, including radiotherapy (n = 4, 66%), somatostatin analogues (n = 5, 83%), cabergoline (n = 3, 50%), and pegvisomant (n = 2, 33%). Three patients (50%) achieved complete biochemical control, while 2 patients showed IGF-1 normalization with pegvisomant. Two patients were genetically related and presented a mutation in the aryl hydrocarbon receptor-interacting protein (AIP) gene (pathogenic variant, c.504G&gt;A in exon 4, p.Trp168*), fulfilling the diagnostic criteria of familial isolated pituitary adenoma. Conclusions This is the largest case series of patients with gigantism described to date in Colombia. Transsphenoidal surgery was the first-choice procedure, but additional pharmacological therapy was usually required. Mutations in the AIP gene should be considered in familial cases of GH-producing adenomas.
DOI: 10.6084/m9.figshare.8987141
title: A novel simplified scoring system for predicting mortality in emergency colorectal surgery: prediction model development

description: ABSTRACT BACKGROUND: Despite advances in surgical approaches, emergency colorectal surgery has high mortality and morbidity. OBJECTIVE: We aimed to create a simple and distinctive scoring system, for predicting mortality among patients undergoing emergency colorectal surgery. DESIGN AND SETTING: Prediction model development study based on retrospective data-gathering. METHODS: Patients who underwent emergency colorectal surgery between March 2014 and December 2016 at a single tertiary-level referral center were included in our study. Patient demographics, comorbidities, type of surgery, etiology and laboratory and radiological findings were collected retrospectively and analyzed. A new clinical score (named the Numune emergency colorectal resection score) was constructed from the last logistic regression model, in which one point was assigned for the presence of each predictive factor. RESULTS: 138 patients underwent emergency colorectal surgery. These comprised 64 males (46.4%) and 74 females (53.6%), with a mean age of 64 years. Multivariate analysis revealed that blood urea nitrogen level &gt; 65 mg/dl (odds ratio, OR: 8.03; 95% confidence interval, CI: 2.16-15.77), albumin level &lt; 0.7 mg/dl (OR: 4.43; 95% CI: 1.96-14.39) and American Society of Anesthesiologists score ≥ 3 (OR: 3.47; 95% CI: 0.81-9.18) were associated with postoperative complications. The Numune score was graded from I to III. The risk of mortality was found to be 63.2% in the group with grade III, which accounted for 35.2% of the subjects. There were 37 postoperative deaths. CONCLUSIONS: Surgeons need scoring systems, especially to predict postoperative mortality. We propose the Numune emergency colorectal resection score for emergency surgical procedures as a practical, usable and effective system for predicting postoperative morbidity.
DOI: 10.6084/m9.figshare.8987150.v1
title: Metabolic phenotypes of obese, overweight, and normal weight individuals and risk of chronic kidney disease: a systematic review and meta-analysis

description: ABSTRACT Objective Chronic kidney disease (CKD) risk is inconsistent in the normal-weight, overweight, and obese individuals due to the heterogeneity of metabolic status. This meta-analysis aimed to examine the combined effects of body mass index (BMI) and metabolic status on CKD risk. Materials and methods The MEDLINE, EMBASE, and Web of Knowledge databases were systematically searched up to March 2019 to identify all eligible studies investigating the CKD risk (defined as GFR &lt; 60 mL/min per 1.73 m2 and/or microalbuminuria or proteinuria) associated with the body size phenotypes which are known as metabolically unhealthy normal-weight (MUNW), metabolically healthy overweight (MHOW), metabolically unhealthy overweight, metabolically healthy obese (MHO) and metabolically unhealthy obese (MUHO). The classification of subjects in included studies as metabolically unhealthy was based on the presence of three components of metabolic syndrome. BMI categorization was based on the criteria of included studies. The risk estimates and 95% confidence intervals (CIs) were extracted and pooled using random effects analysis. Results A total of 9 prospective cohort studies with 128773 participants and 4797 incident cases were included in the meta-analysis. Compared with healthy normal-weight individuals as reference, MUNW and MHO subjects showed an increased risk for CKD events with a pooled RR of 1.58 (95% CI = 1.28-1.96) in MUNW and 1.55 (95% CI = 1.34-1.79) in MHO persons. Also, MHOW was at increased risk for CKD (RR = 1.34, 95% CI = 1.20-1.51). MUHO individuals were at the highest risk for the development of CKD (RR = 2.13, 95% CI = 1.66-2.72). Conclusions Individuals with metabolic abnormality, although at normal-weight, have an increased risk for CKD. Healthy overweight and obese individuals had higher risk; refuting the notion that metabolically healthy overweight and obese phenotypes are benign conditions.
DOI: 10.6084/m9.figshare.8987144.v1
title: Prediction of bone mass changes after successful parathyroidectomy using biochemical markers of bone metabolism in primary hyperparathyroidism: is it clinically useful?

description: ABSTRACT Objective To measure type 1 serum amino-terminal propeptide procollagen (P1NP) and type 1 cross-linked C-terminal telopeptide collagen (CTX) before parathyroidectomy (PTX) in PHPT patients, correlating these measurements with bone mineral density (BMD) changes. Subjects and methods 31 primary hyperparathyroidism (HPTP) were followed from diagnosis up to 12-18 months after surgery. Serum levels of calcium, parathyroid hormone (PTH) vitamin D, CTX, P1NP, and BMD were measured before and 1 year after surgery. Results One year after PTX, the mean BMD increased by 8.6%, 5.5%, 5.5%, and 2.2% in the lumbar spine, femoral neck (FN), total hip (TH), and distal third of the nondominant radius (R33%), respectively. There was a significant correlation between BMD change 1 year after the PTX and CTX (L1-L4: r = 0.614, p &lt; 0.0003; FN: r = 0.497, p &lt; 0.0051; TH: r = 0.595, p &lt; 0.0005; R33%: r = 0.364, p &lt; 0.043) and P1NP (L1-L4: r = 0,687, p &lt; 0,0001; FN: r = 0,533, p &lt; 0,0024; TH: r = 0,642, p &lt; 0,0001; R33%: r = 0,467, p &lt; 0,0079) preoperative levels. The increase in 25(OH)D levels has no correlation with BMD increase (r = -0.135; p = 0.4816). On linear regression, a minimum preoperative CTX value of 0.331 ng/mL or P1NP of 37.9 ng/mL was associated with a minimum 4% increase in L1-L4 BMD. In TH, minimum preoperative values of 0.684 ng/mL for CTX and 76.0 ng/mL for P1NP were associated with a ≥ 4% increase in BMD. Conclusion PHPT patients presented a significant correlation between preoperative levels of turnover markers and BMD improvement 1 year after PTX.
DOI: 10.6084/m9.figshare.8987135
title: Youth overweight/obesity and its relationship with cardiovascular disease and parental risk factors

description: ABSTRACT Objective The prevalence of overweight and obesity is gradually increasing in both developed and developing countries. Obesity, for instance, can present multifactorial causes that interact with each other. Among the important factors, parental obesity plays a prominent role in the onset of obesity during childhood and teenage years through genetics and ambient aspects. This study aims to verify the possible existence of an association between overweight/obesity of schoolchildren and cardiovascular risk (CVR) factors for their parents. Subjetcs and methods For this purpose, a cross-sectional study was conducted with a sample of 1,243 children and adolescents, aged between 7 and 17. Out of the total number of participants, 563 (45.3%) were boys who were selected across 19 schools in the urban and rural areas of Santa Cruz do Sul, Rio Grande do Sul (Brazil). The overweight/obesity status of the schoolchildren was evaluated through their body mass index (BMI). Additionally, a self-reference questionnaire was employed to measure their parents’ CVR. Results The results of this study revealed that students with overweight/obesity have a higher probability of having a father with hypertension (OR = 1.49; p = 0.038) and obesity (OR = 2.36; p = 0.002) and a mother with obesity (OR = 1.72; p = 0.016). Conclusion To conclude, this study confirms a relationship between overweight/obesity of schoolchildren with CVR for their parents.