Healthy lifestyle and genomic ancestry related to good glycemic control in type 1 diabetes patients from Northeastern Brazil: a hierarchical analysis.

Introduction: This study aimed to investigate the sociodemographic factors, dietary adherence, regular physical activity, and genomic ancestry percentage associated with good glycemic control in Brazilian patients with type 1 diabetes (T1D) using a hierarchical approach. Methods: A cross-sectional study was conducted in 152 T1D patients. Glycated hemoglobin (HbA1C) levels were measured to evaluate the glycemic control status (good, moderate, or poor). Independent factors included sex, age, self-reported skin color, educational level, family income, dietary patterns, and physical activity. The percentage of genomic ancestry (Native American, European, and African) was influenced by a panel of 46 autosomal insertion/deletion ancestry markers. Statistical analyses included receiver operating characteristic curves, and hierarchical logistic regression analysis. Results: The hierarchical analysis, patients who had high dietary adherence showed a positive association with good glycemic control (adjustedOR = 2.56, 95% CI:1.18-5.59, P = 0.016). Thus, age greater than 40 years was associated with good glycemic control compared to the children and adolescents group (adjustedOR = 4.55, 95% CI:1.14-18.1, P = 0.031). Males were associated with good glycemic control (adjustedOR = 2.00, 95% CI:1.01-4.00, P =0.047). Conclusion: The study findings suggest that consistent adherence to dietary regimens is associated with good glycemic control after adjusting for sociodemographic and genomic ancestry factors in an admixed population of T1D patients from Northeast Brazil.

Orofacial traits related to oral health-related quality of life in Brazilian acromegaly patients.

OBJECTIVE: To investigate orofacial traits and general factors related to oral health-related quality of life in acromegaly patients. MATERIALS AND METHODS: A cross-sectional study with 34 acromegaly patients was conducted. The OHIP-14 questionnaire was used to assess oral health-related quality of life scores. To assess orofacial and occlusion morphology, an oral evaluation was performed. Correlation measures, multiple linear regression and a structural equation model (SEM) were used in the statistical analysis. RESULTS: The presence of arthrosis (SC = 0.467, SE = 0.155, p = 0.003) and smoking history (SC = 0.459, SE = 0.206, p = 0.026) were associated with a negative impact on oral health-related quality of life. Mandibular protrusion was related to physical pain (ß = 2.74, p = 0.029). Anterior open bite (ß = 4.44, p = 0.004) and anterior crossbite (ß = 2.61, p = 0.026) were related to psychological disability. Diastema was related to social disability (ß = 3.42, p = 0.037) and handicap (ß = 2.74, p = 0.044). CONCLUSION: The findings suggest that smoking, arthrosis and orofacial alterations (mandibular protrusion, open bite, crossbite and diastema) have a negative impact on oral health-related quality of life in acromegaly patients.

Relationship among health-related quality of life and global ancestry, clinical and socioeconomic factors in type 1 diabetes in an admixed Brazilian population.

We aimed to evaluate the Health-related quality of life (HRQoL) of Type 1 diabetes mellitus (T1D) patients in an admixed Brazilian population. This is a cross-sectional study with 152 T1D patients. HRQoL information was obtained from two self-completed questionnaires: Short Form-6 dimensions and EuroQol-5 dimensions with visual analog scale. For inference of global ancestry, the panel of 46 autosomal informational insertion/deletion ancestry markers was used. Demographic and socioeconomic data, presence of chronic complications, glycemic control level, and type of treatment were obtained. Patients with good HRQoL were: male, under 18 years old, had health insurance, less than 5 years of diagnosis, practiced physical activity, without hypoglycemia in the last 30 days, absence of retinopathy and nephropathy, a participant in educational activities, used analogous insulin, monitoring blood glucose, observed maximum adherence to treatment and came from the secondary service. Global ancestry and self-reported color/race did not influence HRQoL indexes. Our study is the first to measure HRQoL, global ancestry and recognize the impact of T1D on the lives of patients in the State of Maranhão, Brazil. The results validate the need to provide T1D patients with continuous training on self-management and self-monitoring, aiming for better results in metabolic control and, subsequently, in the prevention of acute and chronic complications, in order to generate positive impacts on the quality of life of this population. We understand that global ancestry in a highly mixed population such as ours did not influence the HRQoL of these patients.

Impact of POR*28 Variant on Tacrolimus Pharmacokinetics in Kidney Transplant Patients with Different CYP3A5 Genotypes.

BACKGROUND: The introduction of tacrolimus (TAC) to clinical practice was essential to the establishment of transplantation as a therapy for patients with chronic renal disease. However, the higher interindividual variation of TAC metabolism has been an important limiting factor for its clinical use. Although the relationship between CYP3A5 polymorphisms and TAC pharmacokinetics (PK) is well established, the effects of other genetic variants on TAC metabolism, such as POR*28, still remain uncertain. OBJECTIVE: The study aimed to evaluate the impact of POR variants on TAC PK in renal transplant patients with different CYP3A5 genotypes (expressers and non-expressers). METHODS: A total of 115 patients were included in this study. Genomic DNA was isolated from peripheral blood, and the real-time PCR technique was used to analyze the polymorphism POR rs1057868; C>T. RESULTS: During the initial post-transplant period, variant allele carriers (*1/*28 and *28/*28) showed a lower TAC dose requirement than POR wild homozygotes (*1/*1). Regarding the influence of the different polymorphisms of POR within the CYP3A5 expresser and non-expresser groups, no differences were observed in any of the PK parameters analyzed during 12 months after transplantation. CONCLUSION: In the studied population, the variant allelic POR*28 was significantly associated with lower TAC dose requirements and higher Co/D ratio in the first-month post-transplant. However, the effects of this polymorphism on the CYP3A5 enzyme activity were not observed.

Connexin Expression in Pituitary Adenomas and the Effects of Overexpression of Connexin 43 in Pituitary Tumor Cell Lines.

Gap junction intercellular communication (GJIC) is considered a key mechanism in the regulation of tissue homeostasis. GJIC structures are organized in two transmembrane channels, with each channel formed by connexins (Cxs). GJIC and Cxs expression alterations are related to the process of tumorigenesis in different cell types. Pituitary neuroendocrine tumors (PitNETs) represent 15-20% of intracranial neoplasms, and usually display benign behavior. Nevertheless, some may have aggressive behavior, invading adjacent tissues, and featuring a high proliferation rate. We aimed to assess the expression and relevance of GJIC and Cxs proteins in PitNETs. We evaluated the mRNA expression levels of Cx26, 32, and 43, and the protein expression of Cx43 in a series of PitNETs. In addition, we overexpressed Cx43 in pituitary tumor cell lines. At the mRNA level, we observed variable expression of all the connexins in the tumor samples. Cx43 protein expression was absent in most of the pituitary tumor samples that were studied. Moreover, in vitro studies revealed that the overexpression of Cx43 decreases cell growth and induces apoptosis in pituitary tumor cell lines. Our results indicate that the downregulation of Cx43 protein might be involved in the tumorigenesis of most pituitary adenomas and have a potential therapeutic value for pituitary tumor therapy.

Differences in Puberty of Girls before and during the COVID-19 Pandemic.

In the COVID-19 pandemic, there was an increase in consultations for precocious puberty. We aim to analyze differences in female puberty before and during the COVID-19 pandemic. A cross-sectional analytical study was designed at the Pediatric Endocrinology Clinic of the University Hospital of the Federal University of Maranhão in São Luis, Brazil. We included 55 girls with precocious puberty, 22 who started puberty during the pandemic and 33 who started puberty before the pandemic. Clinical, anthropometric, laboratory and imaging variables were compared between groups. Statistics were performed to determine if there was a statistical difference between the groups. Girls with puberty during the pandemic had higher Z-scores for weight (1.08 ± 1.29 versus 0.69 ± 0.83; p = 0.04), lower ovarian volume (1.88 ± 0.95 versus 3.15 ± 2.31; p = 0.01), and smaller differences between thelarche noticed by the parents and the diagnosis (6.63 ± 5.21 versus 12.15 ± 9.96; p = 0.02). The association between precocious puberty during the pandemic with higher Z-scores for weight, lower ovarian volume, and a reduction in the time between the perception of pubertal findings by parents and the diagnosis suggests the influence of the pandemic on the normal time of puberty.

Early Markers of Cardiovascular Disease Associated with Clinical Data and Autosomal Ancestry in Patients with Type 1 Diabetes: A Cross-Sectional Study in an Admixed Brazilian Population.

Patients with type 1 diabetes (T1D) have a higher risk of developing cardiovascular disease (CVD), which is a major cause of death in this population. This study investigates early markers of CVD associated with clinical data and autosomal ancestry in T1D patients from an admixed Brazilian population. A cross-sectional study was conducted with 99 T1D patients. The mean age of the study sample was 27.6 years and the mean duration of T1D was 14.4 years. The frequencies of abnormalities of the early markers of CVD were 19.6% in the ankle-brachial index (ABI), 4.1% in the coronary artery calcium score (CACS), and 5% in the carotid Doppler. A significant percentage of agreement was observed for the comparison of the frequency of abnormalities between CACS and carotid Doppler (92.2%, p = 0.041). There was no significant association between the level of autosomal ancestry proportions and early markers of CVD. The ABI was useful in the early identification of CVD in asymptomatic young patients with T1D and with a short duration of disease. Although CACS and carotid Doppler are non-invasive tests, carotid Doppler is more cost-effective, and both have limitations in screening for CVD in young patients with a short duration of T1D. We did not find a statistically significant relationship between autosomal ancestry proportions and early CVD markers in an admixed Brazilian population.

Genetic Screening of Patients with Thyrotoxic Hypokalemic Periodic Paralysis: An Experience from a Tertiary Care Hospital in the Northeast of Brazil.

BACKGROUND: Thyrotoxic Hypokalemic Periodic Paralysis (THPP) is a rare neuromuscular disease characterized by recurrent episodes of skeletal muscle weakness associated with hypokalemia. Alterations in protein-encoding genes that are part of ion channels seem to be related to the development of this disease. However, the pathogenic potential of some variants in these genomic regions is not yet fully understood. The aim of this study was to screen genetic alterations in regions coding for calcium (cav1.1), sodium (nav1.4), and potassium (Kir2.6) channels, evaluating its impact on the phenotype of patients with THPP. METHODS: Four patients with a diagnosis of THPP followed by the Endocrinology Service of the University Hospital of the Federal University of Maranhão (Brazil) were investigated for the presence of molecular abnormalities in CACNA1S, SCN4A, and KCNJ18 genes. RESULTS: The KCNJ18 analysis revealed at least one polymorphic variant in each patient. Considering the haplotypic classification of R39Q, R40H, A56E, and I249V variants, two cases were named Kir2.6_RRAI and the other two patients were named Kir2.6_QHEV. No patient had point mutations in the regions evaluated for CACNA1S and SCN4A genes. CONCLUSION: The identification of the Kir2.6_RRAI and Kir2.6_QHEV haplotypes reinforces the existence of two main haplotypes involving these four loci of the KCNJ18gene. On the other hand, point mutations in CACNA1S, SCN4A, and KCNJ18 genes do not seem to be the main mechanism of pathogenesis of THPP, indicating that many questions about this topic still remain unclear. So, the diagnosis of this rare disorder should still be based on clinical and biochemical aspects presented by the patient.

Genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in Type 1 Diabetes from an admixed Brazilian population.

This study aimed to investigate the relationship between genetic ancestry inferred from autosomal and Y chromosome markers and HLA genotypes in patients with Type 1 Diabetes from an admixed Brazilian population. Inference of autosomal ancestry; HLA-DRB1, -DQA1 and -DQB1 typifications; and Y chromosome analysis were performed. European autosomal ancestry was about 50%, followed by approximately 25% of African and Native American. The European Y chromosome was predominant. The HLA-DRB1*03 and DRB1*04 alleles presented risk association with T1D. When the Y chromosome was European, DRB1*03 and DRB1*04 homozygote and DRB1*03/DRB1*04 heterozygote genotypes were the most frequent. The results suggest that individuals from Maranhão have a European origin as their major component; and are patrilineal with greater frequency from the R1b haplogroup. The predominance of the HLA-DRB1*03 and DRB1*04 alleles conferring greater risk in our population and being more frequently related to the ancestry of the European Y chromosome suggests that in our population, the risk of T1D can be transmitted by European ancestors of our process miscegenation. However, the Y sample sizes of Africans and Native Americans were small, and further research should be conducted with large mixed sample sizes to clarify this possible association.

CYP3A5 and PPARA genetic variants are associated with low trough concentration to dose ratio of tacrolimus in kidney transplant recipients.

PURPOSE: Genetic polymorphisms have been associated with variation in the metabolism of tacrolimus (TAC) in kidney transplant patients. This study is aimed at assessing the impact of allelic variants of CYP3A5 and PPARA genes on the pharmacokinetics (PK) of TAC in Brazilian kidney transplant recipients in the first-year post-transplant. METHODS: A total of 127 patients were included for genetic evaluation. Genomic DNA was isolated from peripheral blood and real-time PCR was used to analyze the main polymorphisms described for the genes CYP3A5 (rs776746; C > G) and PPARA (rs4823613; A > G and rs4253728; G > A). RESULTS: CYP3A5 expressors showed a lower Co/dose ratio than non-expressors, with the median values of this parameter <1.01 ng/mL/mg in the first group at all evaluated times. Additionally, PPARA variant homozygotes had a lower Co/D ratio than wild allele carriers in the 12-month post-transplant period, with a median value of 0.65 ng/mL/mg. In the CYP3A5 expressers, the presence of the variant homozygous genotype PPARA was associated with a lower value of Co/D compared with the other genotypic groups at month 12. CONCLUSION: In the population under study, polymorphisms on CYP3A5 and PPARA were identified as determining and independent factors associated with the reduction of Co/D of TAC. Thus, the genotyping of these genetic variants may be a useful tool for the individualized prescription of TAC in kidney transplant patients.

Elevated leptin levels in healthy climacteric women from Northeastern Brazil: an effect of age or adiposity?

OBJECTIVE: Climacterium is associated with elevated leptin levels and increased risk of cardiovascular disorders. Conflicting data diverge on whether high leptin levels in climacterium reflect increasing adipose mass or, at least partially, age-related hormonal changes. This study addresses this issue in women from a Brazilian state with a low human development index. SUBJECTS AND METHODS: A case-control study was conducted, enrolling 136 women from the state of Maranhão, 52 (38.2%) climacteric and 84 (61.8%) non-climacteric. Biometric, biochemical, hormonal and immunological parameters were analyzed. RESULTS: Climacteric women showed a moderately increased waist/hip ratio (0.894 versus 0.834, p < 0.05), sustained body mass index (27.46 versus 28.68, p > 0.05) increased leptin levels (9.59 versus 7.13, p < 0.05) and no evidence of metabolic syndrome. No other parameters were altered. The climacteric cohort didn't show significant body fat gains but displayed a typical age-related redistribution of adipose tissue. Even so, leptin levels were significantly elevated compared with non-climacteric women. CONCLUSIONS: Altogether, these data support the hypothesis that leptin is elevated, at least partially, as a function of age and climacterium and is not necessarily correlated with metabolic dysfunction and systemic inflammation. Further studies are needed to evaluate the impact of higher leptin levels on postmenopausal women. Arch Endocrinol Metab. 2020;64(3):276-81.

Elevated leptin levels in healthy climacteric women from Northeastern Brazil: an effect of age or adiposity?

ABSTRACT Objective Climacterium is associated with elevated leptin levels and increased risk of cardiovascular disorders. Conflicting data diverge on whether high leptin levels in climacterium reflect increasing adipose mass or, at least partially, age-related hormonal changes. This study addresses this issue in women from a Brazilian state with a low human development index. Subjects and methods A case-control study was conducted, enrolling 136 women from the state of Maranhão, 52 (38.2%) climacteric and 84 (61.8%) non-climacteric. Biometric, biochemical, hormonal and immunological parameters were analyzed. Results Climacteric women showed a moderately increased waist/hip ratio (0.894 versus 0.834, p < 0.05), sustained body mass index (27.46 versus 28.68, p > 0.05) increased leptin levels (9.59 versus 7.13, p < 0.05) and no evidence of metabolic syndrome. No other parameters were altered. The climacteric cohort didn't show significant body fat gains but displayed a typical age-related redistribution of adipose tissue. Even so, leptin levels were significantly elevated compared with non-climacteric women. Conclusions Altogether, these data support the hypothesis that leptin is elevated, at least partially, as a function of age and climacterium and is not necessarily correlated with metabolic dysfunction and systemic inflammation. Further studies are needed to evaluate the impact of higher leptin levels on postmenopausal women. Arch Endocrinol Metab. 2020;64(3):276-81

Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism.

BACKGROUND Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. However, secondary hypothyroidism is not reported in these patients. Juvenile hemochromatosis has an autosomal recessive inheritance and might be type 2A or type 2B, due to mutation in either the hemojuvelin gene (HJV) or hepcidin antimicrobial peptide (HAMP) gene. CASE REPORT A 26-year-old female patient was admitted with a recent history of diabetic ketoacidosis. Three months after that admission, she presented with arthralgia, diffuse abdominal pain, adynamia, hair loss, darkening of the skin and amenorrhea. Severe iron overload was found and findings in the hepatic biopsy were compatible with hemochromatosis. An upper abdominal magnetic resonance imaging (MRI) showed iron deposition in the liver and pancreas and pituitary MRI exhibited accumulation on the anterior pituitary. After 16 months the patient presented with dyspnea and lower limb edema, and cardiac MRI indicated iron deposition in the myocardium. The patient was diagnosed with juvenile hemochromatosis presenting with hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism. A novel homozygous mutation, c.697delC, in the HJV gene was detected. CONCLUSIONS We describe for the first time a severe and atypical case of juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene.

Plasma Cytokine Levels in Overweight Versus Obese Disease-Free Perimenopausal Women.

OBJECTIVE: To evaluate the plasma cytokine levels during T cell-mediated inflammatory responses and compare the metabolic markers between overweight and obese perimenopausal women without systemic diseases. METHODS: Sixty perimenopausal women were divided into two groups (overweight and obese). Participants in both groups had their waist-to-height ratio (WHtR) measured and blood samples collected for the evaluation of estradiol, fasting glucose, leptin, high-sensitivity C-reactive protein (hs-CRP), interleukin (IL)-6, IL-10, IL-17A levels, and lipid profile. RESULTS: In univariate analysis, women with obesity showed increased WHtR, fasting glucose, leptin, and IL-6 (p < 0.05) levels; however, significant differences were not observed in IL-10 or IL-17A (p > 0.05) levels. In the receiver operating characteristic curve, the highest areas under the curve were shown for leptin (0.856) and IL-6 (0.706). IL-6 levels correlated with both hs-CRP (r = 0.302, p = 0.020) and leptin (r = 0.294, p = 0.022). However, in multivariate analysis, IL-6 was not associated with a greater likelihood of obesity (OR = 1.61; 95% CI: 0.82-3.15; p = 0.16), when potential confounders were considered. CONCLUSION: IL-6 levels varied between overweight and obese perimenopausal women, and this association was weaker when adjusted for other clinical variables.

Differential Expression of HMGA1 and HMGA2 in pituitary neuroendocrine tumors.

Defining biomarkers for invasive pituitary neuroendocrine tumors (PitNETs) is highly desirable. The high mobility group A (HMGA) proteins are among the most widely expressed cancer-associated proteins. Indeed, their overexpression is a frequent feature of human malignancies, including PitNETs. We show that nonfunctioning PitNETs (NF-PitNETs) express significantly higher levels of HMGA1 than somatotropinomas (GHs) and corticotropinomas (ACTHs). Furthermore, HMGA2 expression was detected only in NF-PitNETs and was significantly higher in larger tumors than in smaller tumors. HMGA expression analysis generally focuses on nuclear staining. Here, cytoplasmic HMGA staining was also found. PitNETs displayed strong nuclear HMGA1 and strong cytoplasmic HMGA2 immunoreactivity. Interestingly, the HMGA1 and HMGA2 nuclear expression levels were significantly higher in invasive adenomas than in noninvasive adenomas. The highest levels of nuclear HMGA2 were found in GHs. In conclusion, we show that overexpression of nuclear HMGA proteins could be a potential biomarker of invasive PitNETs, particularly HMGA2 for GHs. HMGA2 might be a reliable biomarker for NF-PitNETs.

Profile of Pregnant Women with Gestational Diabetes Mellitus at Increased Risk for Large for Gestational Age Newborns.

OBJECTIVE: Gestational diabetes mellitus (GDM) is associated with a higher risk of perinatal morbidity and mortality, and its main complication is the occurrence of large for gestational age (LGA) newborns. The present study aims to characterize pregnant women with GDM and to identify factors associated with the occurrence of LGA newborns in this population. METHODS: A cross-sectional study was performed based on medical records of women whose prenatal care and delivery were performed at the Maternal and Child Unit of the Hospital Universitário of the Universidade Federal do Maranhão, state of Maranhão, Brazil. A total of 116 pregnant women diagnosed with GDM were included according to the criteria of the International Association of Diabetes and Pregnancy Study Groups (IADPSG). RESULTS: The variables associated with LGA newborns after multivariate analysis were: obesity prior to pregnancy (OR = 11.6; 95% CI: 1.40-95.9), previous macrosomia (OR = 34.7; 95% CI: 4.08-295.3), high blood glucose levels in the 3rd trimester (OR = 2,67; 95% CI: 1.01-7.12) and combined change in the oral glucose tolerance test (OGTT) (fasting + postdextrose) (OR = 3.53; 95% CI: 1.25-14.2) = 1.17-10.6). Otherwise, insufficient weight gain during pregnancy reduced the risk for LGA newborns (OR = 0.04; 95% CI: 0.01-0.32). CONCLUSION: Obesity prior to pregnancy, previous macrosomia, high blood glucose levels in the 3rd trimester, and combined change in the OGTT were independent predictive factors for LGA newborns in pregnant women with GDM.

OBJETIVO: Diabetes mellitus gestacional (DMG) está associado a um maior risco de morbidade e mortalidade perinatais, e sua principal complicação é a ocorrência de recém-nascidos grandes para idade gestacional (GIG). O presente estudo visa caracterizar as gestantes com DMG e identificar fatores associados à ocorrência de recém-nascidos GIG nesta população. MéTODOS: Estudo transversal realizado a partir da coleta de dados de prontuário de mulheres cujo acompanhamento pré-natal e parto foram realizados na Unidade Materno-Infantil do Hospital Universitário da Universidade Federal do Maranhão, MA, Brasil. Foram incluídas 116 gestantes diagnosticadas com DMG pelo critério do International Association of Diabetes and Pregnancy Study Groups (IADPSG). RESULTADOS: As variáveis associadas à GIG após análise multivariada foram: obesidade pré-gestacional (OR= 11,6; IC 95%: 1,40­95,9), macrossomia anterior (OR = 34,7; IC 95%: 4,08­295,3), glicemia em jejum elevada no 3° trimestre (OR = 2,67; IC 95%: 1,01­7,12) e alteração combinada no teste de tolerância oral à glicose (jejum + pós-dextrose) (OR= 3,53; IC 95%: 1,17­10,6). Ganho de peso inferior reduziu o risco para GIG (OR= 0,04; IC 95%: 0,01­0,32). CONCLUSãO: Obesidade anterior à gestação, macrossomia prévia, níveis elevados de glicose no sangue no 3° trimestre e alteração combinada no TOTG foram fatores preditivos independentes para os recém-nascidos GIG em gestantes com DMG.

Does the Bethesda category predict aggressive features in differentiated thyroid cancer?

OBJECTIVE: To analyze the importance of preoperative cytology of thyroid nodules and its relationship with mortality risk, recurrence risk, dynamic stratification, and aggressive characteristics (vascular invasion, aggressive histology, incomplete tumor resection, extrathyroidal extension of the tumor, and presence of lymph node and distant metastases). SUBJECTS AND METHODS: Retrospective evaluation of 153 patients diagnosed with differentiated thyroid carcinoma (DTC) and following up at the Hospital Universitário Presidente Dutra between January 1999 and December 2016. RESULTS: In all, 96% of the patients were female, 79.7% had papillary carcinoma and the most common fine-needle aspiration (FNA) result was Bethesda II (29.4%). The mean age was 43.11 ± 12.8 years. Overall, 85% of the patients progressed without any evidence of disease. There was a statistically significant relationship between the presurgical FNA and the presence of extrathyroidal extension, vascular invasion, and lymph node metastasis. CONCLUSIONS: The preoperative cytology of the nodule may have an impact on the follow-up of patients with DTC. Future studies in a larger population are required to confirm this finding.

Does the Bethesda category predict aggressive features in differentiated thyroid cancer?

ABSTRACT Objective: To analyze the importance of preoperative cytology of thyroid nodules and its relationship with mortality risk, recurrence risk, dynamic stratification, and aggressive characteristics (vascular invasion, aggressive histology, incomplete tumor resection, extrathyroidal extension of the tumor, and presence of lymph node and distant metastases). Subjects and methods: Retrospective evaluation of 153 patients diagnosed with differentiated thyroid carcinoma (DTC) and following up at the Hospital Universitário Presidente Dutra between January 1999 and December 2016. Results: In all, 96% of the patients were female, 79.7% had papillary carcinoma and the most common fine-needle aspiration (FNA) result was Bethesda II (29.4%). The mean age was 43.11 ± 12.8 years. Overall, 85% of the patients progressed without any evidence of disease. There was a statistically significant relationship between the presurgical FNA and the presence of extrathyroidal extension, vascular invasion, and lymph node metastasis. Conclusions: The preoperative cytology of the nodule may have an impact on the follow-up of patients with DTC. Future studies in a larger population are required to confirm this finding.

Sample transport validation: experience of a medium-sized laboratory / Validação do transporte de amostras: experiência de um laboratório de médio porte

ABSTRACT INTRODUCTION: The adequacy of biological samples is a critical and important item in the clinical laboratory, so that reliable results can be obtained for patients. OBJECTIVE: To ensure integrity and stability of biological samples during the transport process. METHOD: Concurrent validation was carried out - in parallel with the production process and distribution of the product, from January to March 2017. The blood samples were packaged primarily in tube racks, and those of urine, feces and microbiological materials were packed in plastic bags. Materials were wrapped in a blanket of absorbent material to ensure temperature integrity and to avoid possible material losses. Thermal bags were the containers used to carry the samples. There were five transport routes, with two daily routes for each collection unit. A recommendation of the number of ice packs, predefined by the laboratory, was followed. RESULTS AND CONCLUSION: In the first month, the pre-established temperatures (blood: 10°C to 22°C/urine-feces: 2°C to 8°C) were not reached until arrival at the central laboratory, and the amount of ice in each bag was gradually increased, daily, until reaching the ideal temperature, in all collection units and the central. Transport routes were changed three times in the most distant units. Materials that arrived outside specifications were processed with restrictions, and results were evaluated by the professional responsible for the release. After these modifications, the temperature records of the biological materials were in accordance with the current legislation and the defined specifications, thus validating the process.

RESUMO INTRODUÇÃO: A adequação das amostras biológicas é um item crítico e importante no laboratório clínico, para que possamos oferecer resultados confiáveis aos pacientes. OBJETIVO: Garantir a integridade e a estabilidade das amostras biológicas durante o processo de transporte. MÉTODO: Foi realizada validação concorrente - concomitantemente ao processo produtivo e à distribuição do produto, no período de janeiro a março de 2017. As amostras de sangue foram acondicionadas primariamente em galerias; as de urina, fezes e materiais microbiológicos, em sacos plásticos. Os materiais foram envoltos por uma manta de material absorvente para garantir a integridade da temperatura e evitar possíveis perdas de material. Maletas térmicas foram os recipientes utilizados para transportar as amostras. Havia cinco rotas de transporte, com dois percursos diários para cada unidade de coleta. Foi seguida a recomendação da quantidade de barras de gelo predefinida pelo laboratório. RESULTADOS E CONCLUSÃO: No primeiro mês, as temperaturas preestabelecidas (sangue: 10°C a 22°C/urina e fezes: 2°C a 8°C) não foram atingidas até a chegada à matriz, e aumentou-se gradativamente a quantidade de gelo em cada maleta, com avaliações diárias, até se atingir a temperatura ideal, em todas as unidades de coleta e na matriz. Foi realizada mudança nas rotas de transporte com frequência de três vezes nas unidades mais distantes. Os materiais que chegaram fora das especificações foram processados com restrição; e os resultados, avaliados pelo profissional responsável pela liberação. Após essas modificações, os registros de temperatura dos materiais biológicos estavam de acordo com a legislação vigente e as especificações definidas, validando, portanto, o processo.

Pituitary Metastasis of Thyroid Carcinoma: A Case Report.

BACKGROUND Pituitary metastasis of thyroid carcinoma is a rare entity. Differential diagnosis with other lesions in the sellar/parasellar region, through clinical, histopathological, immunohistochemical, and imaging is challenging but essential for adequate treatment. CASE REPORT This case report describes a 58-year-old patient with the previous diagnosis of follicular thyroid carcinoma, with metastasis to cervical lymph nodes, bone, and lung, initially evolving to left palpebral ptosis. In the investigation, laboratory tests showed hypopituitarism, and magnetic resonance imaging of the skull showed a suprasellar formation measuring 2.2×3.5×2.5 cm, which increased in size in a few months. The patient underwent transcranial neurosurgery and subsequent immunohistochemical analysis, which confirmed pituitary metastasis of follicular thyroid carcinoma. The patient underwent chemotherapy and radiotherapy but died 26 months after the onset of symptoms. CONCLUSIONS The differential diagnosis of pituitary metastasis from a benign lesion is difficult. Therefore, a careful analysis of the history and clinical evolution, use of complementary imaging tests, and, where possible, the histopathological and immunohistochemical analysis of the lesion for diagnostic elucidation are necessary.