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INTRODUCTION AND AIM: Type 3 Familial Partial Lipodystrophy (FPLD3) is a rare metabolic disease related to pathogenic PPARG gene variants. FPLD3 is characterized by a loss of fatty tissue in the upper and lower limbs, hips, and face. FPLD3 pathophysiology is usually associated with metabolic comorbidities such as type 2 diabetes, insulin resistance, hypertriglyceridemia, and liver dysfunction. Here, we clinically and molecularly characterized FPLD3 patients harboring novel PPARG pathogenic variants. MATERIALS AND METHODS: Lipodystrophy-suspected patients were recruited by clinicians from an Endocrinology Reference Center. Clinical evaluation was performed, biological samples were collected for biochemical analysis, and DNA sequencing was performed to define the pathogenic variants associated with the lipodystrophic phenotype found in our clinically diagnosed FPLD subjects. Bioinformatics predictions were conducted to characterize the novel mutated PPARγ proteins. RESULTS: We clinically described FPLD patients harboring two novel heterozygous PPARG variants in Brazil. Case 1 had the c.533T > C variant, which promotes the substitution of leucine to proline in position 178 (p.Leu178Pro), and cases 2 and 3 had the c.641 C > T variant, which results in the substitution of proline to leucine in the position 214 (p.Pro214Leu) at the PPARγ2 protein. These variants result in substantial conformational changes in the PPARγ2 protein. CONCLUSION: Two novel PPARG pathogenic variants related to FPLD3 were identified in a Brazilian FPLD cohort. These data will provide new epidemiologic data concerning FPLD3 and help understand the genotype-phenotype relationships related to the PPARG gene.
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Berardinelli-Seip congenital lipodystrophy (CGL), a rare autosomal recessive disorder, is characterized by a lack of adipose tissue. Infections are one of the major causes of CGL individuals' premature death. The mechanisms that predispose to infections are poorly understood. We used Leishmania infantum as an in vitro model of intracellular infection to explore mechanisms underlying the CGL infection processes, and to understand the impact of host mutations on Leishmania survival, since this pathogen enters macrophages through specialized membrane lipid domains. The transcriptomic profiles of both uninfected and infected monocyte-derived macrophages (MDMs) from CGL (types 1 and 2) and controls were studied. MDMs infected with L. infantum showed significantly downregulated expression of genes associated with infection-response pathways (MHC-I, TCR-CD3, and granzymes). There was a transcriptomic signature in CGL cells associated with impaired membrane trafficking and signaling in response to infection, with concomitant changes in the expression of membrane-associated genes in parasites (e.g. δ-amastins). We identified pathways suggesting the lipid storage dysfunction led to changes in phospholipids expression and impaired responses to infection, including immune synapse (antigen presentation, IFN-γ signaling, JAK/STAT); endocytosis; NF-kappaB signaling; and phosphatidylinositol biosynthesis. In summary, lipid metabolism of the host plays an important role in determining antigen presentation pathways.
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Leishmania infantum , Lipodistrofia Generalizada Congênita , Macrófagos , Transdução de Sinais , Humanos , Macrófagos/metabolismo , Macrófagos/parasitologia , Macrófagos/imunologia , Lipodistrofia Generalizada Congênita/genética , Lipodistrofia Generalizada Congênita/metabolismo , Leishmania infantum/genética , Transcriptoma , Masculino , Feminino , Perfilação da Expressão Gênica , Leishmaniose Visceral/parasitologia , Leishmaniose Visceral/imunologia , Leishmaniose Visceral/genética , Leishmaniose Visceral/metabolismoRESUMO
Objectives: To evaluate the associations between individuals with and without changes in components of metabolic syndrome (MetS) and demographic, nutritional, and lifestyle factors. Methods: A cross-sectional study was conducted with 224 individuals followed-up at a public hospital in Northeast Brazil. We used National Cholesterol Education Program-Adult Treatment Panel III (NCEP) criteria to diagnose MetS. We assessed components of MetS as dependent variables, while sex, age, food consumption, smoking, alcohol intake, physical activity, anthropometric parameters, and sleep hours were independent variables. Results: Comparing individuals with and without changes in components of MetS, the logistic regression models revealed that female sex was predictive of increased waist circumference and low HDL-c levels while advanced age was predictive of increased blood pressure and blood glucose levels. BMI emerged as a predictor for waist circumference and a protective factor for triglyceride levels. In addition, potassium intake, physical activity, and sleep duration were protective against decreased HDL-c, elevated triglyceride, and elevated blood pressure levels, respectively. Conclusion: This study demonstrated that sex, age, BMI, dietary potassium intake, physical activity, and hours of sleep are factors to be targeted in public health actions for prevention and treatment of MetS.
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Introdução: A síndrome metabólica é um conjunto de desordens metabólicas, consideradas fatores de risco cardiovascular. Estima-se que indivíduos com síndrome metabólica apresentam probabilidade três vezes maior de desenvolver doenças cardiovasculares. O status inadequado de vitamina D tem apresentado múltiplos mecanismos fisiopatológicos que sugerem um envolvimento no desenvolvimento de doenças cardiovasculares. Objetivo: avaliar a associação entre o status de vitamina D e o risco de doenças cardiovasculares em indivíduos com síndrome metabólica. Métodos: Estudo do tipo transversal realizado com 161 indivíduos adultos, diagnosticados com síndrome metabólica. Foram realizadas as medidas antropométricas, pressão arterial, e as análises bioquímicas, incluindo a dosagem de 25(OH)D no soro. O critério estabelecido para classificação do status de 25(OH)D foi deficiente < 20 ng/mL; insuficiente≤ 29 ng/mL e suficiente ≥ 30 ng/mL. Ademais, avaliou-se o risco absoluto de desenvolver doenças cardiovasculares usando o Escore de Risco de Framingham. Resultados: A mediana da concentração de 25(OH)D foi 29,7 (21-34) ng/mL, indicando status de 25(OH)D insuficiente na população. Não houve associação entre status de vitamina D e o risco cardiovascular em indivíduos com síndrome metabólica (p > 0,05). Conclusão: Não se observou associação entre status 25(OH)D inadequado e maior risco cardiovascular nos indivíduos com síndrome metabólica. Entretanto,esses resultados reforçam a importância do monitoramento clínico para prevenir os impactos da hipovitaminose D nos indivíduos com síndrome metabólica e o desenvolvimento de novos estudos para avaliar a relação entre status de 25(OH)D e risco cardiovascular.
Introduction: Metabolic syndrome is a set of metabolic disorders that are considered cardiovascular risk factors. It is estimated that individuals with metabolic syndrome are three times more likely to develop cardiovascular disease. Inadequate vitamin D status has shown multiple pathophysiological mechanisms that suggest an involvement in the development of cardiovascular disease. Objective: To evaluate the association between vitamin D status and the risk of cardiovascular disease in individuals with metabolic syndrome. Methods: This is a cross-sectional study carried out with 161 adult individuals diagnosed with metabolic syndrome. Anthropometric measurements, blood pressure, and biochemical analyzes were performed, including serum 25(OH)D status. The established criterion for classifying 25(OH)D status was deficient < 20 ng/mL; insufficient ≤ 29 ng/mL and sufficient ≥ 30 ng/mL. Furthermore, the absolute risk of developing cardiovascular disease was assessed using the Framingham Risk Score. Results: The mean 25(OH)D concentration was 29.7 (21-34) ng/mL, indicating insufficient 25(OH)D status in the population. There was no association between vitamin D status and cardiovascular risk in subjects with metabolic syndrome (p > 0.05). Conclusion: There was no association between inadequate 25(OH)D status and increased cardiovascular risk in individuals with metabolic syndrome. However, these results reinforce the importance of clinical monitoring to prevent the impacts of hypovitaminosis D in individuals with metabolic syndrome and the development of new studies to assess the relationship between 25(OH)D status and cardiovascular risk.
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Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Deficiência de Vitamina D , Síndrome Metabólica , Fatores de Risco de Doenças Cardíacas , Estudos TransversaisRESUMO
Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stability. Subjects with lipodystrophy exhibit an impairment in the homeostasis of subcutaneous white adipose tissue (sWAT), resulting in low leptin and adiponectin levels, insulin resistance (IR), diabetes, dyslipidemia, ectopic fat deposition, inflammation, mitochondrial and endoplasmic reticulum commitments, among others. However, how pathogenic variants in adipogenesis-related genes modulate DNA repair in some classical congenital lipodystrophies has not been elucidated. In the same way, no data is clarifying how pathogenic variants in DNA repair genes result in sWAT loss in different types of progeroid lipodystrophies. This review will concentrate on the main molecular findings to understand the link between DNA damage/repair and adipogenesis in human and animal models of congenital lipodystrophies. We will focus on classical and progeroid congenital lipodystrophies directly or indirectly related to DNA repair pathways, highlighting the role of DNA repair-related proteins in maintaining sWAT homeostasis.
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BACKGROUND: Osteoporosis is a condition characterized by low bone mineral density, which typically leads to fractures and reduced quality of life. Currently, diagnostic devices used to assess this condition (e.g., dual-energy X-ray absorptiometry) are very costly, making it infeasible to meet the demand for testing in most countries. Therefore, we proposed a preclinical validation of a prototype called Osseus in an attempt to enhance osteoporosis screening tests and alleviate their costs. Osseus is a device developed to assist bone mineral density classification. It integrates a microcontroller into other peripheral devices to measure the attenuation at the middle phalanx of the middle finger, with two antennas operating at the 2.45 GHz frequency. RESULTS: We conducted tests with plaster, poultry, and porcine bones. A comparison of the measurements of the original and mechanically altered samples demonstrated that the device can handle the complexity of the tissues within the bone structure and characterize its microarchitecture. CONCLUSIONS: Osseus is a device that has been preliminarily validated. Ionising radiation needed for DXA tests is replaced by non-ionising microwave electromagnetic radiation. Osseus enables early detection of osteoporosis, reduces costs, and optimizes high-complexity testing referrals. There is a lack of validation studies with the reference/gold standard that are currently under development.
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Micro-Ondas , Osteoporose , Absorciometria de Fóton/métodos , Densidade Óssea , Humanos , Minerais , Osteoporose/diagnóstico por imagem , Projetos Piloto , Qualidade de VidaRESUMO
BACKGROUND AND AIMS: GPIHBP1 is an accessory protein of lipoprotein lipase (LPL) essential for its functioning. Mutations in the GPIHBP1 gene cause a deficit in the action of LPL, leading to severe hypertriglyceridemia and increased risk for acute pancreatitis. METHODS: We describe twelve patients (nine women) with a novel homozygous mutation in intron 2 of the GPIHBP1 gene. RESULTS: All patients were from the Northeastern region of Brazil and presented the same homozygous variant located in a highly conserved 3' splicing acceptor site of the GPIHBP1 gene. This new variant was named c.182-1G > T, according to HGVS recommendations. We verified this new GPIHBP1 variant's effect by using the Human Splicing Finder (HSF) tool. This mutation changes the GPIHBP1 pre-mRNA processing and possibly causes the skipping of the exon 3 of the GPIHBP1 gene, affecting almost 50% of the cysteine-rich Lys6 GPIHBP1 domain. Patients presented with severe hypertriglyceridemia (2351 mg/dl [885-20600]) and low HDL (18 mg/dl [5-41). Four patients (33%) had a previous history of acute pancreatitis. CONCLUSIONS: We describe a novel GPIHBP1 pathogenic intronic mutation of patients from the Northeast region of Brazil, suggesting the occurrence of a founder effect.
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Hiperlipoproteinemia Tipo I , Pancreatite , Receptores de Lipoproteínas , Doença Aguda , Brasil , Feminino , Humanos , Hiperlipoproteinemia Tipo I/genética , Lipase Lipoproteica/genética , Masculino , Mutação , Pancreatite/genética , Receptores de Lipoproteínas/genéticaRESUMO
BACKGROUND: Vitamin D deficiency can play a role in extraskeletal functions that are involved with a set of risk factors associated with metabolic syndrome (MetS). The purpose of this review is to investigate the impact of vitamin D supplementation on fasting glucose, dyslipidemia, blood pressure, and abdominal obesity among patients with MetS. METHODS: EMBASE, Medline, Web of Science, Lilacs, the Cochrane Central Register of Controlled Trials, clinicaltrials.gov databases, and grey literature will be systematically searched for randomized controlled trials (RCTs) of vitamin D supplementation compared with placebo, through December 2020. We will include in the study patients with MetS diagnosed by the criteria set forth by the National Cholesterol Education Program Adult Treatment Panel III or the International Diabetes Federation. The effect of oral vitamin D supplementation on lipid profile improvement (triglycerides, high-density lipoprotein cholesterol-HDL-C) is this review's primary outcome. The systematic review will be performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. The study screening, data extraction, and quality assessment will be fulfilled by two independent reviewers according to the Cochrane Risk of Bias tool (RoB 2.0). The results of the systematic review will be provided according to the type of intervention, characteristics of the target population, the methods of measurement of vitamin D, the calculated vitamin D concentrations, types of biological samples, and types of outcomes. Meta-analyses will be conducted where appropriate. The Cochran's Q test and the I2-heterogeneity test will be used to assess the presence of heterogeneity and whether the fixed or the random-effects model would be appropriate for combining study results using the inverse variance method or the DerSimonian-Lair method, respectively. Publication bias will be evaluated using funnel plots and Egger's and Begg's tests. The strength of the evidence will be assessed according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE). DISCUSSION: This systematic review will assess the effects of vitamin D supplementation on fasting glucose and triglyceride levels, waist circumference and mean blood pressure, and HDL-C among individuals with MetS. These findings may assist with decision-making within a clinical setting. SYSTEMATIC REVIEW REGISTRATION: PROSPERO registration number CRD42019123212.
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Dislipidemias , Síndrome Metabólica , Obesidade Abdominal , Adulto , Pressão Sanguínea , Suplementos Nutricionais , Dislipidemias/tratamento farmacológico , Jejum , Glucose , Humanos , Metanálise como Assunto , Síndrome Metabólica/tratamento farmacológico , Ensaios Clínicos Controlados Aleatórios como Assunto , Revisões Sistemáticas como Assunto , Vitamina DRESUMO
PURPOSE: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the absence of functional adipocytes resulting in ectopic lipid storage, metabolic disorders and early cardiovascular disease. Two-dimensional speckle-tracking (2D-STE) allows the detection of early abnormalities in myocardial function. We aimed to evaluate myocardial deformation in a large sample of CGL patients using 2D-STE. PATIENTS AND METHODS: A cross-sectional study of 22 patients with CGL and 22 healthy subjects, matched for sex and age, was conducted from 2013 to 2018. All participants had undergone standard conventional echocardiography (ECHO) and 2D-STE. Determination of blood glucose, lipids, insulin, and leptin were performed in all CGL patients. RESULTS: In the CGL group the mean age was 14.6±10.7 years where 68.2% (n=15) were younger than 18 years old. All the patients had hypoleptinemia, 95.4% (21/22) low HDL-c, 86.4% (19/22) hypertriglyceridemia, 68.2% (15/22) diabetes, 50% (11/22) hepatic steatosis, 41% (9/22) insulin resistance, 41% (9/22) hypercholesterolemia, and 18.2% (4/22) hypertension. ECHO showed that 36.6% (8/22) of CGL patients presented diastolic dysfunction, 31.8% (7/22) left ventricular hypertrophy (LVH), 27.3% (6/22) increased left atrial volume index (LAVI), and 18.2% (4/22) increased left ventricular systolic diameter (LVDS) but normal ejection fraction (EF), whether using 2D-STE, 68.2% (15/22) of CGL patients showed abnormal global longitudinal strain (GLS) (p<0.01), and in almost LV segments. Positive association between abnormal GLS and A1c (r=0.57, p=0.005), glucose (r=0.5, p=0.018) and basal insulin (r= 0.69, p= 0.024), and negative association with leptin (r = -0.51, p = 0.005) were found in these patients. CONCLUSION: The 2D-STE revealed precocious left ventricular systolic dysfunction in a young CGL population with normal systolic function by ECHO. Early exposure to common metabolic abnormalities as insulin resistance, hyperglycemia, and hypoleptinemia must be involved in myocardial damage in these patients.
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We investigated the extent to which obesity could identify autonomic dysfunction of heart control in a cross-sectional study with 65 women (aged 18-45 years), categorized as eutrophic, overweight or obese. We collected anthropometric measures and measures of heart rate variability (HRV) between March 2015 and March 2017. Low frequency in normalized units (LF(nu)) over 46 was considered a marker of autonomic imbalance and high frequency in normalized units (HF(nu)) below 38 a marker of depressed vagal modulation. Overweight (mean difference MΔHF(nu) = -13.11 [95% confidence interval (CI) of difference, -25.88, -0.34], Hedges's g = 0.65, common language effect size (CL) = 68.1%) and obese (MΔHF(nu) = -21.22 [95% CI, -31.89, -10.55], Hedges's g = 1.17, CL = 79.2%) women presented depressed vagal modulation compared to eutrophic women. Autonomic imbalance increased as body mass index increased (eutrophic-to-overweight MΔLF(nu) = 13.06 [95% CI, 1.65, 24.47], g = 0.65, CL = 67.9%, and overweight-to-obese MΔLF(nu) = 21.07 [95% CI, 10.32, 31.82], g = 1.15, CL 78.9%). The odds ratio for depressed HF(nu) among overweight women was 2.36 (95% CI 0.77, 7.29) and 2.18 among obese women (95% CI 0.79, 5.99), as well as 9.17 (95% CI 2.62, 32.04) and 17.39 for increased LF(nu) (95% CI 2.13, 141.76), respectively. The parasympathetic activity is diminished and autonomic imbalance of the cardiac control increased with increasing BMI categories.
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Sistema Nervoso Autônomo/fisiopatologia , Índice de Massa Corporal , Cardiopatias/complicações , Obesidade/complicações , Adolescente , Adulto , Estudos Transversais , Feminino , Coração/fisiopatologia , Frequência Cardíaca/fisiologia , Humanos , Pessoa de Meia-Idade , Sobrepeso/complicações , Adulto JovemRESUMO
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the near total absence of body fat at birth. BSCL etiology involves genetic variations in four different genes: AGPAT2, BSCL2, CAV1, and CAVIN1. The four different biochemical subtypes of the disease are distinguished depending on which gene is mutated. The diagnosis of lipodystrophy can be based on clinical criteria, but the gold standard remains genetic testing. Since many different mutations have already been correlated with the onset of the disease, the most indicative method is DNA sequencing. However, not all laboratories have the resources to perform sequencing. Thus, less expensive techniques that include narrow gene regions may be applied. In such cases, the target mutations to be tested must be carefully determined taking into account the frequency of the description of the mutations in the literature, the nationality of the patient, as well as their phenotype. This review considers the molecular basis of BSCL, including the manual count of the majority of mutations reported in the literature up to the year 2018. Ninety different genetic mutations in 332 cases were reported at different frequencies. Some mutations were distributed homogeneously and others were specific to geographic regions. Type 2 BSCL was mentioned most often in the literature (50.3% of the cases), followed by Type 1 (38.0%), Type 4 (10.2%), and Type 3 (1.5%). The mutations comprised frameshifts (34.4%), nonsense (26.6%), and missense (21.1%). The c.517dupA in the BSCL2 gene was the most frequent (13.3%), followed by c.589-2A>G in the AGPAT2 gene (11.5%), c.507_511delGTATC in the BSCL2 gene (9.7%), c.317-588del in the AGPAT2 gene (7.3%), and c.202C>T in the AGPAT2 gene (4.5%). This information should prove valuable for analysts in making decisions regarding the best therapeutic targets in a population-specific context, which will benefit patients and enable faster and less expensive treatment.
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Lipodistrofia Generalizada Congênita/genética , Mutação/genética , Tecido Adiposo , Sequência de Aminoácidos , Animais , Sequência de Bases , Testes Genéticos/métodos , Humanos , FenótipoAssuntos
Aciltransferases/genética , Tecido Adiposo/diagnóstico por imagem , Subunidades gama da Proteína de Ligação ao GTP/genética , Lipodistrofia Generalizada Congênita/diagnóstico , Mutação , Aciltransferases/metabolismo , Adolescente , DNA/genética , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Subunidades gama da Proteína de Ligação ao GTP/metabolismo , Testes Genéticos/métodos , Humanos , Lipodistrofia Generalizada Congênita/genética , Lipodistrofia Generalizada Congênita/metabolismoRESUMO
Seipin is a nonenzymatic protein encoded by the BSCL2 gene. It is involved in lipodystrophy and seipinopathy diseases. Named in 2001, all seipin functions are still far from being understood. Therefore, we reviewed much of the research, trying to find a pattern that could explain commonly observed features of seipin expression disorders. Likewise, this review shows how this protein seems to have tissue-specific functions. In an integrative view, we conclude by proposing a theoretical model to explain how seipin might be involved in the triacylglycerol synthesis pathway.
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INTRODUCTION: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL. METHOD: We analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017. If the death certificate was incomplete or unavailable, we reviewed the medical records, and if they were not available too, we collected information from the patient's relatives to understand how the death happened. We calculated the potential years of life lost as a result of premature death. RESULTS: Twenty patients (12 female and 8 male) died between 1997 and 2017. The mean age at the time of death was 27.1±12.4 years (women 25.2±12.5 vs. men 29.9±12.6 years, p = 0.41). Life expectancy for the study population was 62.9±4.8 years. The potential number of years of life lost was 35.6±16.6 years. The causes of deaths were divided into three major groups: infections (7 patients, 35%), liver disease (7 patients, 35%), and other causes (acute pancreatitis, one patient; renal failure, three patients; sudden death/myocardial infarction, two patients). Three patients had pulmonary fibrosis. CONCLUSION: BSCL led to premature death, cutting the patients' lifespan by 30 or more years. The majority of these young patients died of liver disease or infection. Other studies are needed to understand better the mechanisms that predispose to infections, as well as to assess whether new therapies can alter the natural history of this disease.
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Causas de Morte , Expectativa de Vida , Lipodistrofia Generalizada Congênita/mortalidade , Doenças Raras/mortalidade , Adolescente , Adulto , Feminino , Humanos , Infecções/mortalidade , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/genética , Hepatopatias/etiologia , Hepatopatias/mortalidade , Masculino , Infarto do Miocárdio/etiologia , Infarto do Miocárdio/mortalidade , Pancreatite/mortalidade , Fibrose Pulmonar/etiologia , Fibrose Pulmonar/mortalidade , Doenças Raras/complicações , Doenças Raras/genética , Insuficiência Renal/etiologia , Insuficiência Renal/mortalidade , Adulto JovemRESUMO
BACKGROUND: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare disease characterized by the almost complete absence of adipose tissue. Although a large number of BSCL cases was previously identified in Rio Grande do Norte (RN), a state in Northeast Brazil, its prevalence in RN regions and municipalities remains unknown. The purpose of this study was to better characterize the prevalence of BSCL in RN. METHODS: A descriptive study was conducted using secondary data obtained from the Association of Parents and People with BSCL of RN to determine its prevalence. The patients' socio-demographic characteristics and geolocalization were analyzed. RESULTS: We estimated a total of 103 BSCL cases in RN, resulting in a prevalence of 3.23 per 100,000 people. The Central Potiguar mesoregion, Seridó territory, Carnaúba dos Dantas and Timbaúba dos Batistas municipalities had a much higher prevalence of BSCL, with 20.56, 20.66, 498.05 and 217.85 per 100,000 people, respectively. CONCLUSIONS: Together, our results showed that BSCL is highly prevalent in RN and confirmed that our state has one of the highest prevalences of this lipodystrophy worldwide. More studies are still needed to better estimate the prevalence and incidence of BSCL in RN as well as in other states in Brazil. Trial registration Study Number 31809314.0.0000.5568.
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OBJETIVO: Avaliar a resposta da embolização arterial tireoidiana como terapêutica para o hipertireoidismo primário.MATERIAIS E MÉTODOS: Cinco mulheres com falha ao tratamento farmacológico com tionamida foram submetidas a vaso-oclusão em três artérias dominantes tireoidianas (avaliadas por ultrassonografia Doppler e arteriografia) e acompanhadas até 8 semanas após o procedimento (três acompanhadas até 16 semanas) com ultrassonografia Doppler, calcemia, função tireoidiana e controle clínico.RESULTADOS: Nenhuma alcançou remissão permanente de doença após 8 semanas. Houve recidiva de hipertireoidismo em 24 semanas, mesmo com redução do volume tireoidiano de 49,5 ± 15,2% em 16 semanas. Não encontramos complicações, mas radioiodo foi necessário após 24 semanas em três das pacientes acompanhadas.CONCLUSÃO: Nas pacientes que concluíram o protocolo, a vaso-oclusão arterial com polivinil álcool nas três artérias dominantes permitiu redução volumétrica do bócio, entretanto, foi ineficiente em controlar o hipertireoidismo.
OBJECTIVE: To evaluate the therapeutic response to thyroid arterial embolization for primary hyperthyroidism.MATERIALS AND METHODS: Five women whose pharmacological treatment with thionamides failed to control Graves' disease were submitted to embolization of three dominant thyroid arteries (following assessment with ultrasound Doppler and arteriography) and followed-up at the 1st, 8th and 16th weeks after the procedure, with ultrasound Doppler, calcium blood test, thyroid function test and clinical examination. Three of the patients completed 16-week follow-up.RESULTS: None of the patients achieved permanent remission after 8 weeks. Disease recurrence was observed at the 24th week, despite the decrease in thyroid volume (49.5 ± 15.2%) observed at the 16th week. Complications were not observed, but radioiodine therapy was required for three of the patients followed-up.CONCLUSION: Embolization of three dominant thyroid arteries with polyvinyl alcohol allowed reduction in goiter volume in the three patients who completed the protocol, but was not effective to control hyperthyroidism.
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Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Embolização Terapêutica/métodos , Hipertireoidismo/terapia , Radioisótopos do Iodo/uso terapêutico , Glândula Tireoide , Angiografia , Protocolos Clínicos , Creatinina , Hemodinâmica , Ultrassonografia DopplerRESUMO
OBJECTIVE: To determine serum CPK variation based on TSH e free T4 (FT4), and to assess serum CPK in pathological states of the thyroid (hyperthyroidism and hypothyroidism), in relation to the euthyroidism. MATERIAL AND METHODS: We evaluated retrospectively 6,230 laboratory results of TSH and CPK from 2007 to 2011. From these, 3,369 had free T4 results. We evaluated the correlation between CPK and TSH and the pathological states of the thyroid. RESULTS: The correlation between TSH and CPK was positive (r = 0.065), while that between CPK and FT4 was negative (r = -0.091, p < 0.05). From the total of results analyzed, 586 (9.4%) were measures of hyperthyroidism, with a median (range) of CPK of 98 U/L (27 to 1,113), and 556 (8.9%) were of hypothyroidism, with CPK of 114 U/L (25-4,182). CONCLUSION: A positive correlation was found between serum CPK and TSH, and a negative correlation between CPK and FT4. CPK was lower in the group with hyperthyroidism, and greater in that with hypothyroidism.