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1.
Front Endocrinol (Lausanne) ; 14: 1233050, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37900142

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 1 , Masculino , Adolescente , Criança , Humanos , Adulto , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 1/complicações , Brasil/epidemiologia , Estudos Transversais , Controle Glicêmico , Genômica , Estilo de Vida Saudável
2.
Oral Dis ; 2023 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-36654191

RESUMO

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.

3.
Sci Rep ; 12(1): 11060, 2022 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-35773385

RESUMO

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.


Assuntos
Diabetes Mellitus Tipo 1 , Adolescente , Brasil/epidemiologia , Estudos Transversais , Humanos , Masculino , Qualidade de Vida , Fatores Socioeconômicos , Inquéritos e Questionários
4.
Artigo em Inglês | MEDLINE | ID: mdl-35457600

RESUMO

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.


Assuntos
COVID-19 , Puberdade Precoce , COVID-19/epidemiologia , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Pandemias , Puberdade , Puberdade Precoce/epidemiologia
5.
Genes (Basel) ; 13(4)2022 04 12.
Artigo em Inglês | MEDLINE | ID: mdl-35456480

RESUMO

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.


Assuntos
Adenoma , Neoplasias Hipofisárias , Adenoma/genética , Linhagem Celular Tumoral , Transformação Celular Neoplásica , Conexina 43/genética , Conexinas/genética , Conexinas/metabolismo , Humanos , Neoplasias Hipofisárias/genética , RNA Mensageiro/genética
6.
Endocr Pract ; 28(5): 509-514, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35247589

RESUMO

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a rare genetic syndrome characterized by parathyroid, anterior pituitary, and/or duodenopancreatic neuroendocrine tumors. Studies have indicated that investigating primary hyperparathyroidism (pHPT) with subsequent genetic screening may be an essential tool for the early diagnosis of MEN1 in patients with pituitary tumors (PTs). This study aimed to investigate the presence of pHPT in patients with PTs and, subsequently, to screen for genetic mutations and related tumors in patients with MEN1 syndrome. METHODS: This study included 255 patients with PTs who were assessed for the presence of MEN1 by serum calcium and parathyroid hormone measurements. Mutation screening of the MEN1, CDKN1B, and AIP genes was performed in the index cases showing the MEN1 phenotype. RESULTS: Five patients with PTs presented a clinical condition compatible with MEN1. These patients had a younger age of onset and a more severe clinical condition. Genetic analysis identified a frameshift mutation in the MEN1 gene in one of the cases with the MEN1 phenotype, but point mutations in CDKN1B and AIP were not detected in any of these patients. CONCLUSION: Our results show that periodic screening for pHPT in patients with PTs may be useful to detect MEN1 syndrome; thus, it is recommended in those patients with both findings a genetic analysis of MEN1 gene and an additional search of related tumors. By contrast, our data suggest that CDKN1B and AIP mutations do not seem to play a relevant role in the pathogenesis of MEN1.


Assuntos
Hiperparatireoidismo Primário , Neoplasia Endócrina Múltipla Tipo 1 , Neoplasias Hipofisárias , Perfil Genético , Humanos , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/genética , Hiperparatireoidismo Primário/patologia , Neoplasia Endócrina Múltipla Tipo 1/complicações , Neoplasia Endócrina Múltipla Tipo 1/genética , Mutação , Neoplasias Hipofisárias/complicações , Neoplasias Hipofisárias/genética
7.
Genes (Basel) ; 13(2)2022 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-35205433

RESUMO

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.


Assuntos
Doenças Cardiovasculares , Diabetes Mellitus Tipo 1 , Adulto , Índice Tornozelo-Braço , Biomarcadores , Brasil/epidemiologia , Doenças Cardiovasculares/genética , Estudos Transversais , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/genética , Humanos
8.
Artigo em Inglês | MEDLINE | ID: mdl-34554906

RESUMO

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.


Assuntos
Paralisia Periódica Hipopotassêmica , Canais de Potássio Corretores do Fluxo de Internalização , Brasil/epidemiologia , Testes Genéticos , Humanos , Paralisia Periódica Hipopotassêmica/diagnóstico , Paralisia Periódica Hipopotassêmica/epidemiologia , Paralisia Periódica Hipopotassêmica/genética , Mutação , Canal de Sódio Disparado por Voltagem NAV1.4/genética , Canais de Potássio Corretores do Fluxo de Internalização/genética , Centros de Atenção Terciária
9.
Sci Rep ; 11(1): 14157, 2021 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-34239025

RESUMO

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.


Assuntos
Cromossomos Humanos Y/genética , Diabetes Mellitus Tipo 1/genética , Pool Gênico , Predisposição Genética para Doença , Antígenos HLA/genética , Filogenia , Adulto , Brasil , Estudos de Casos e Controles , Feminino , Marcadores Genéticos , Geografia , Haplótipos/genética , Humanos , Masculino , Análise de Componente Principal
10.
Am J Case Rep ; 21: e923108, 2020 Apr 24.
Artigo em Inglês | MEDLINE | ID: mdl-32327622

RESUMO

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.


Assuntos
Proteínas Ligadas por GPI/genética , Proteína da Hemocromatose/genética , Hemocromatose/congênito , Adulto , Diabetes Mellitus Tipo 1/complicações , Feminino , Hemocromatose/complicações , Hemocromatose/diagnóstico , Hemocromatose/genética , Humanos , Hipogonadismo/etiologia , Hipotireoidismo/etiologia , Sobrecarga de Ferro/sangue , Mutação
11.
Mol Cell Endocrinol ; 490: 80-87, 2019 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-30999005

RESUMO

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.


Assuntos
Regulação Neoplásica da Expressão Gênica , Proteína HMGA1a/genética , Proteína HMGA2/genética , Tumores Neuroendócrinos/genética , Neoplasias Hipofisárias/genética , Adolescente , Adulto , Idoso , Núcleo Celular/metabolismo , Feminino , Proteína HMGA1a/metabolismo , Proteína HMGA2/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Tumores Neuroendócrinos/patologia , Neoplasias Hipofisárias/patologia , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Adulto Jovem
12.
Int J Endocrinol ; 2018: 6135080, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29681935

RESUMO

OBJECTIVE: To identify the factors associated with quality of life in patients with acromegaly with follow-up at the referral service in neuroendocrinology of the state of Maranhão, northeast Brazil. METHODS: The Acromegaly Quality of Life Questionnaire (Acro-QoL) was used. Factors independently associated with quality of life were identified using multivariate linear regression, with p values < 0.05 considered significant. RESULTS: The multivariate linear regression analysis indicated a positive association between being integrated into the job market and quality of life scores in the overall domain (ß = 0.288, p = 0.003), psychological domain (ß = 0.291, p = 0.032), and personal relationship domain (ß = 0.314, p = 0.019). We also observed a positive association with income and the quality of life scores in all domains as follows: overall domain (ß = 0.037, p = 0.003), physical domain (ß = 0.988, p = 0.001), psychological domain (ß = 0.342, p = 0.008), physical appearance domain (ß = 0.270, p = 0.049), and personal relationship domain (ß = 0.315, p = 0.012). CONCLUSION: For patients with acromegaly living in one of the least developed regions of Brazil, integration into the job market and a higher income were associated with a better quality of life.

13.
Int. j. cardiovasc. sci. (Impr.) ; 28(3): 234-243, mai.-jun. 2015.
Artigo em Português | LILACS | ID: lil-775246

RESUMO

Fundamentos: O menor grau de escolaridade na população parece estar associado com a maior prevalência dos fatoresde risco cardiovascular (FRCV). Contudo, poucos estudos avaliaram esse fato através de análise clínica e laboratorial em centros universitários. Objetivo: Avaliar a prevalência dos FRCV em servidores de universidade pública. Métodos: Estudo transversal, analítico, randomizado, com 319 participantes de uma coorte de servidores universitários. Analisou-se a prevalência dos FRCV através da medição dos níveis glicêmicos e pressóricos, perfil lipídico, índices antropométricos e foram realizadas análises comparativas de subgrupos de diferentes níveis de escolaridade. Realizou-se análise de regressão logística multivariada para avaliar a associação independente entre nível de escolaridade e presença dos FRCV. Resultados: Média de idade 46,0±10,0 anos, 52,5% mulheres, 56,0% com nível superior de escolaridade, 85,6% pertencentes às classes socioeconômicas B e C. Prevalência dos FRCV: diabetes mellitus (DM) 9,4%; hipertensão arterial sistêmica(HAS) 36,7%; dislipidemia 50,5%; tabagismo 21,9%; sobrepeso 59,6%; obesidade 13,2%; sedentarismo 27,9%. O grupo de menor nível de escolaridade se associou de forma independente com maior prevalência de DM e sedentarismo, quando comparado ao grupo dos servidores com nível superior (docentes e não docentes). DM=odds ratio 2,4(IC95% 1,05-5,5) e p=0,036; sedentarismo=odds ratio 2,2 (IC95% 1,3-3,7) e p=0,003. Os subgrupos não apresentaramdiferenças quanto às demais variáveis.


Background: The lower level of education in the population appears to be associated with a higher prevalence of cardiovascular risk factors(CVRF). However, few studies have assessed this fact by means of clinical and laboratory analysis in universities. Objective: To evaluate the prevalence of cardiovascular risk factors in public servants at a public university.Methods: Cross-sectional, analytical and randomized study, with 319 participants of a cohort composed of university public servants.CVRF prevalence was assessed by measuring blood glucose and blood pressure levels, lipid profile and anthropometric indices, and comparative analyses were made of subgroups with different education levels. A multivariate logistic regression analysis was used to assess the independentassociation between education level and presence of CVRF.Results: Mean age 46.0±10.0 years old, 52.5% women, 56.0% with higher education level, 85.6% belonging to B and C socioeconomic classes. Prevalence of CVRF: diabetes mellitus (DM) - 9.4%; systemic hypertension (SH) - 36.7%; dyslipidemia - 50.5%; smoking - 21.9%;overweight - 59.6%; obesity - 13.2%; sedentary lifestyle - 27.9%. The group with the lowest level of education had an independent association,with higher prevalence of DM and sedentary lifestyle, as compared to the group of public servants with higher level of education (teachersand non-teachers). DM=odds ratio 2.4 (95% CI 1.05 to 5.5) and p=0.036; sedentary lifestyle=odds ratio 2.2 (95% CI 1.3 to 3.7) andp=0.003. The subgroups showed no differences regarding the other variables. Conclusion: In this study, individuals with higher levels of education showed lower prevalence of diabetes and sedentary lifestyle.


Assuntos
Humanos , Masculino , Feminino , Adulto , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/fisiopatologia , Escolaridade , Prevalência , Fatores de Risco , Estudos Transversais , Diabetes Mellitus , Hipertensão/complicações , Hipertensão/diagnóstico , Análise Multivariada , Obesidade/complicações , Obesidade/diagnóstico , Comportamento Sedentário , Fatores Socioeconômicos , Circunferência da Cintura
14.
Endocrine ; 46(3): 577-84, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24272601

RESUMO

Somatostatin analogs (SSAs) represent the mainstay of therapy in acromegaly. One of the potential disadvantages is the expected need to maintain therapy indefinitely in previously non-irradiated patients. The aim of this multicenter prospective open trial was to evaluate the likelihood of successful discontinuation of SSA therapy in well-controlled acromegalic patients who fulfilled very strict criteria: two or more years of treatment with the long-acting SSA octreotide LAR (OCT-LAR), a stable dose and injections interval every 4 weeks or longer for the previous year, GH levels <2.5 ng/ml and normal IGF-1 levels for age, a tumor remnant <10 mm, no history of radiotherapy, and no use of cabergoline or pegvisomant over the previous 6 months. Disease recurrence was defined as an increase of IGF-1 to levels above 1.2-fold the upper limit of normal (ULN). Out of 220 patients, 20 patients (12 women and 8 men; mean age, 48.1 ± 10.3 years; age range, 27-64) treated for 2.74 ± 0.64 years (range, 2.0-4.4) were included in this prospective study and OCT-LAR therapy was stopped. Four patients (20 %) remained without clinical and biochemical/neuroradiological evidence of disease recurrence after 12-18 months of follow-up. Sixteen patients (80 %) relapsed biochemically within 9 months after drug withdrawal and restarted OCT-LAR at the same previous dose. Compared to recurring subjects, non-recurring patients had significantly lower mean IGF-1 (× ULN) levels but there were some overlapping values in both groups. No other characteristic could be identified as a predictor of successful OCT-LAR discontinuation. Our findings demonstrated that OCT-LAR withdrawal, though rare, is possible in well-selected acromegalic patients treated for at least 2 years and considered optimally controlled in hormonal and neuroradiological terms.


Assuntos
Acromegalia/tratamento farmacológico , Octreotida/uso terapêutico , Somatostatina/análogos & derivados , Acromegalia/sangue , Adulto , Preparações de Ação Retardada , Feminino , Hormônio do Crescimento Humano/sangue , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Prospectivos , Indução de Remissão , Resultado do Tratamento , Adulto Jovem
15.
Pituitary ; 16(1): 109-14, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22527615

RESUMO

Several studies have associated acromegaly with an increased risk of benign and malignant tumors. While simple and multinodular goiters are common findings in acromegaly, the prevalence of thyroid cancer is uncertain. The objective of this study was to estimate the prevalence of thyroid cancer in a series of acromegalic patients from three hospitals in northeast of Brazil. The methodology used included morphological, cytological and histological thyroid analysis of acromegalic patients and volunteers over 18 years, matched for age and sex and with nodule (s) ≥1 cm. The subjects of this study were 124 acromegalic patients, including 76 females (61.3%) and 48 men (38.7%), with a mean age 45.1 years. Results of the study showed that thyroid ultrasonography was normal in 31 cases (25%), 25 had diffuse goiter (20.1%), 67 had nodules (54%) and one agenesis of the right lobe (0.8%). Thirty-six patients underwent fine needle aspiration biopsy (FNAB) of their nodules and 9 cases of papillary cancer were found (7.2%). The control group consisted of 263 subjects, 156 females (59.3%) and 107 males (40.7%), mean age 44.7 years. In ultrasound assessment, 96 had nodules (36.5%). Of these, 13 were punctured and 2 cases of papillary carcinoma were found (0.7%). These results gave an odds ratio of 10.21 (p = 0.0011, 95% CI 2.17 to 48.01). These findings demonstrate an increased prevalence of thyroid cancer, statistically significant when compared to our control group. Thus, it is suggested that acromegalic patients should be routinely submitted to thyroid ultrasound evaluation, followed by FNAB of nodules when indicated.


Assuntos
Acromegalia/epidemiologia , Neoplasias da Glândula Tireoide/epidemiologia , Acromegalia/complicações , Acromegalia/diagnóstico , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias da Glândula Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/etiologia
16.
Clin Endocrinol (Oxf) ; 78(1): 94-101, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22702655

RESUMO

BACKGROUND: A specific acromegaly-related cardiomyopathy has been described in the literature, largely in Caucasians, which is independent of other risk factors, mainly hypertension. OBJECTIVE: This study assessed the cardiac changes in acromegalics of significant ethnic diversity and also the relevance of the aetiopathogenic factors involved, such as disease activity and hypertension. DESIGN: It is a cross-sectional study with a comparative control group. PATIENTS AND METHODS: In this study, 37 acromegalic patients (20 Intermediate-skinned (IS), 14 Dark-skinned (DS) and three Light-skinned (LS) individuals) and 74 controls matched by age, gender and hypertension were evaluated. Cardiac morphology and function were addressed using echocardiography parameters. RESULTS: The mean age of patients was 46.9 ± 12.8 years, with 67.6% being women and 43.2% hypertensive. The prevalence of left ventricular hypertrophy (LVH) between acromegalics was 56.8% vs 10.8% in the controls (P < 0.001). About 86% of patients with LVH had active disease (P = 0.023). Logistic regression revealed that disease activity presented a stronger association (OR = 5.925; CI = 1.085-32.351; P = 0.040) with LVH than hypertension (OR = 3.237; CI = 0.702-14.924; P = 0.132). When DS acromegalics were compared with IS ones, no statistically significant differences were observed. CONCLUSION: Chronically hyperactive somatotropic axis remains as an independent and determining factor in the development of left ventricular hypertrophy, as it is more associated with this condition than hypertension in a largely admixed population with a high degree of African ancestry.


Assuntos
Acromegalia/epidemiologia , Cardiomiopatias/epidemiologia , Acromegalia/complicações , Acromegalia/metabolismo , Adulto , Cardiomiopatias/etiologia , Estudos Transversais , Feminino , Hormônio do Crescimento Humano/metabolismo , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Pessoa de Meia-Idade
17.
Pituitary ; 14(2): 148-56, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21104199

RESUMO

The aim of this prospective open trial was to evaluate the efficacy in normalizing IGF-I levels of the addition of cabergoline to the treatment of acromegalic patients partially responsive to Octreotide-LAR (OCT-LAR), a long acting somatotastin analog (SSA). Fifty-two patients who did not achieve hormonal control after longterm therapy (at least, 12 months) with OCT-LAR (30 mg every 28 days intramuscularly) were given cabergoline in addition to the SSA treatment. Normalization of IGF-I levels was achieved in 40.4% of patients by 6 months after the addition of cabergoline (1.0-3.0 mg/week; mean, 2.19 ± 0.64), and these patients were considered responsive. Compared to non-responsive subjects, responsive patients had significantly lower mean %ULNR-IGF-I and GH levels. However, the rate of hyperprolactinemia and positive immunohistochemical staining for PRL was similar in both groups, before the addition of cabergoline. Responsive patients were followed for at least 12 months on combination treatment and persisted with normal IGF-I levels. Patients with baseline %ULNR IGF-I up to 220% and/or GH up to 5 ng/ml were those who benefited the most from combination treatment. No patients with %ULNR-IGF-I>250% reached normalization of IGF-I levels. Our findings demonstrated that the addition of cabergoline, even at relatively low doses, is effective in both short- and long-term control of IGF-I levels in acromegalic patients partially responsive to octreotide LAR, particularly in those with mild/moderately elevated GH/IGF-levels, irrespective of prolactin status.


Assuntos
Acromegalia/tratamento farmacológico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Resistencia a Medicamentos Antineoplásicos/efeitos dos fármacos , Ergolinas/administração & dosagem , Ergolinas/farmacologia , Octreotida/administração & dosagem , Acromegalia/etiologia , Adenoma/complicações , Adenoma/tratamento farmacológico , Adulto , Idoso , Cabergolina , Preparações de Ação Retardada/administração & dosagem , Feminino , Adenoma Hipofisário Secretor de Hormônio do Crescimento/complicações , Adenoma Hipofisário Secretor de Hormônio do Crescimento/tratamento farmacológico , Humanos , Fator de Crescimento Insulin-Like I/administração & dosagem , Fator de Crescimento Insulin-Like I/uso terapêutico , Masculino , Pessoa de Meia-Idade , Fatores de Tempo , Adulto Jovem
18.
Arq. bras. endocrinol. metab ; 53(9): 1103-1111, dez. 2009. tab, graf
Artigo em Português | LILACS | ID: lil-537062

RESUMO

OBJETIVO: Avaliar o impacto dos sintomas depressivos e da dor neuropática na qualidade de vida (QV) de pacientes diabéticos com polineuropatia distal diabética (PNDD). MÉTODOS: Foram avaliados 204 pacientes com diabetes melito tipo 2. O diagnóstico de PNDD foi realizado por meio do Escore de Sintomas Neuropáticos e Escore de Comprometimento Neuropático. A gravidade da dor neuropática foi avaliada por meio da Escala Visual Analógica (EVA); os sintomas depressivos, por meio do Inventário Beck de Depressão (IBD); a QV, com o World Health Organization Quality of Life abreviado (WHOQOL-bref). RESULTADOS: Pacientes com PNDD apresentaram escores mais altos no IBD (12,6 ± 7,2 versus 9,9 ± 7,3; p = 0,018) e no EVA (5,0 ± 2,4 versus 2,6 ± 2,9, p < 0,001). Em relação à QV, apresentaram escores mais baixos no domínio físico (52,8 ± 15,5 versus 59,2 ± 17,0; p = 0,027) e ambiental (56,6 ± 12,3 versus 59,6 ± 13,6; p = 0,045). CONCLUSÕES: Pacientes diabéticos com PNDD apresentam pior QV nos domínios físico e ambiental do WHOQOL-bref, provavelmente devido à maior sintomatologia depressiva e gravidade de dor.


OBJECTIVE: To investigate the impact of depressive symptoms and neuropathic pain in the quality of life (QL) of diabetic patients with diabetic distal polyneuropathy (DDP). METHODS: Two hundred and four patients with type 2 diabetes mellitus were evaluated. The diagnosis of DDP was achieved using the Neuropathy Disability Score and Neuropathy Symptom Score questionnaires. The severity of neuropathic pain was assessed by means of a Visual Analogue Scale (VAS); the severity of depression, by means of the Beck Depression Inventory (BDI); and QL was assessed by means of the World Health Organization Quality of Life Instrument-bref (WHOQOLbref). RESULTS: Patients with DDP presented significant higher scores in BDI (12.6 ± 7.2 versus 9.9 ± 7.3; p = 0.018) and in VAS (5.0 ± 2.4 versus 2.6 ± 2.9; p < 0.001). They also presented significant lower scores in the physical (52.8 ± 15.5 versus 59.2 ± 17.0; p = 0.027) and environmental domains (56.6 ± 12.3 versus 59.6 ± 13.6; p = 0,045). CONCLUSIONS: Diabetic patients with DDP presented a worse QL in the physical and environmental domains of the WHOQOL-bref, probably due to more depressive symptoms and the severity of pain.


Assuntos
Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Depressão/psicologia , /psicologia , Neuropatias Diabéticas/psicologia , Neuralgia/psicologia , Qualidade de Vida , Depressão/diagnóstico , Neuropatias Diabéticas/diagnóstico , Métodos Epidemiológicos , Neuralgia/diagnóstico
19.
Arq Bras Endocrinol Metabol ; 53(9): 1103-11, 2009 Dec.
Artigo em Português | MEDLINE | ID: mdl-20126868

RESUMO

OBJECTIVE: To investigate the impact of depressive symptoms and neuropathic pain in the quality of life (QL) of diabetic patients with diabetic distal polyneuropathy (DDP). METHODS: Two hundred and four patients with type 2 diabetes mellitus were evaluated. The diagnosis of DDP was achieved using the Neuropathy Disability Score and Neuropathy Symptom Score questionnaires. The severity of neuropathic pain was assessed by means of a Visual Analogue Scale (VAS); the severity of depression, by means of the Beck Depression Inventory (BDI); and QL was assessed by means of the World Health Organization Quality of Life Instrument-bref (WHOQOLbref). RESULTS: Patients with DDP presented significant higher scores in BDI (12.6 +/- 7.2 versus 9.9 +/- 7.3; p = 0.018) and in VAS (5.0 +/- 2.4 versus 2.6 +/- 2.9; p < 0.001). They also presented significant lower scores in the physical (52.8 +/- 15.5 versus 59.2 +/- 17.0; p = 0.027) and environmental domains (56.6 +/- 12.3 versus 59.6 +/- 13.6; p = 0,045). CONCLUSIONS: Diabetic patients with DDP presented a worse QL in the physical and environmental domains of the WHOQOL-bref, probably due to more depressive symptoms and the severity of pain.


Assuntos
Depressão/psicologia , Diabetes Mellitus Tipo 2/psicologia , Neuropatias Diabéticas/psicologia , Neuralgia/psicologia , Qualidade de Vida , Adulto , Idoso , Depressão/diagnóstico , Neuropatias Diabéticas/diagnóstico , Métodos Epidemiológicos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neuralgia/diagnóstico
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