Early Left Ventricular Systolic Dysfunction Detected by Two-Dimensional Speckle-Tracking Echocardiography in Young Patients with Congenital Generalized Lipodystrophy.

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.

Embolização de artérias tireoidianas como opção terapêutica para o hipertireoidismo: série de casos / Thyroid arterial embolization as a therapeutic option for hyperthyroidism: a case series

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.

[Influence of thyroid function in CPK serum levels]. / Influência da função tireoidiana nos níveis séricos de CPK.

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.

Influência da função tireoidiana nos níveis séricos de CPK / Influence of thyroid function in CPK serum levels

OBJETIVO: Determinar a variação da CPK sérica em função do TSH e T4 livre (FT4) e avaliar a CPK sérica nos estados patológicos da tireoide (hipertireoidismo e hipotireoidismo), em relação ao eutireoidismo. MATERIAIS E MÉTODOS: Analisaram-se, retrospectivamente, 6.230 exames laboratoriais de 2007 a 2011, com as dosagens de TSH e CPK. Destas, 3.369 com dosagens de FT4. Avaliou-se a correlação entre CPK com TSH e com os estados patológicos da tireoide. RESULTADOS: A correlação entre TSH e CPK foi positiva (r = 0,065), enquanto entre CPK e FT4 foi inversamente proporcional (r = -0,091, p < 0,05). Do total, 586 (9,4%) medidas foram de hipertireoidismo com mediana (intervalo) do CPK de 98 U/L (27 a 1.113) e 556 (8,9%), hipotireóideos com CPK de 114 U/L (25-4.182). CONCLUSÃO: Houve correlação positiva entre CPK sérica e TSH e negativa com FT4, sendo a CPK menor no grupo com hipertireoidismo e maior no grupo de hipotireoidismo.

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.

Effectiveness of adding vildagliptin to the treatment of diabetic patients nonresponsive to the combination of metformin and a sulphonylurea.

OBJECTIVE: To evaluate the effectiveness of adding vildagliptin to the treatment of patients with inadequately controlled type 2 diabetes mellitus (T2DM) treated with a combination of metformin and a sulphonylurea. SUBJECTS AND METHODS: 37 T2DM patients with HbA1c ranging from 7.7% to 12.4% (mean of 9.30 ± 1.38), despite the use of metformin in combination with a sulphonylurea, were additionally treated with vildagliptin (100 mg/day) for at least 6 months. RESULTS: During triple oral therapy (TOT) HbA1c levels < 7% were achieved in 11 patients (29.7%), whereas levels of fasting plasma glucose (FPG) < 120 mg/dL were observed in 12 patients (32.4%). Both findings were observed in 10 patients (27.0%). Compared to nonresponsive subjects, lower mean baseline HbA1c and FPG levels were seen in responsive patients, but the difference was only statistically significant for fasting plasma glucose (FPG). Moreover, there was considerable overlap between the two groups. CONCLUSION: Our preliminary results suggest that TOT with metformin, a sulphonylurea and vildagliptin may be useful for some T2DM patients nonresponsive to combination therapy with metformin and sulphonylurea.

Effectiveness of adding vildagliptin to the treatment of diabetic patients nonresponsive to the combination of metformin and a sulphonylurea / Eficácia da adição de vildagliptina ao tratamento de pacientes diabéticos não responsivos à combinação de metformina e uma sulfonilureia

OBJECTIVE: To evaluate the effectiveness of adding vildagliptin to the treatment of patients with inadequately controlled type 2 diabetes mellitus (T2DM) treated with a combination of metformin and a sulphonylurea. SUBJECTS AND METHODS: 37 T2DM patients with HbA1c ranging from 7.7 percent to 12.4 percent (mean of 9.30 ± 1.38), despite the use of metformin in combination with a sulphonylurea, were additionally treated with vildagliptin (100 mg/day) for at least 6 months. RESULTS: During triple oral therapy (TOT) HbA1c levels < 7 percent were achieved in 11 patients (29.7 percent), whereas levels of fasting plasma glucose (FPG) < 120 mg/dL were observed in 12 patients (32.4 percent). Both findings were observed in 10 patients (27.0 percent). Compared to nonresponsive subjects, lower mean baseline HbA1c and FPG levels were seen in responsive patients, but the difference was only statistically significant for fasting plasma glucose (FPG). Moreover, there was considerable overlap between the two groups. CONLUSION: Our preliminary results suggest that TOT with metformin, a sulphonylurea and vildagliptin may be useful for some T2DM patients nonresponsive to combination therapy with metformin and sulphonylurea.

OBJETIVO: Avaliar a eficácia da adição de vildagliptina ao tratamento de pacientes com diabetes melito tipo 2 (DM2) inadequadamente controlados com a terapia de combinação com metformina e sulfonilureia. SUJEITOS E MÉTODOS: 37 pacientes com DM2 e HbA1c variando entre 7,7 por cento e 12,4 por cento (média, 9,30 ± 1,38), apesar do uso de metformina associada a uma sulfonilureia, foram adicionalmente tratados com vildagliptina (100 mg/dia) durante, pelo menos, 6 meses. RESULTADOS: Durante a terapia oral tripla TOT), níveis de HbA1c < 7 por cento foram alcançados em 11 pacientes (27,9 por cento), enquanto a glicemia de jejum (GJ) < 120 mg/dL foi observada em 12 pacientes (32,4.1 por cento). Ambos os resultados foram descritos em 10 pacientes (27,0 por cento). Em comparação com indivíduos não responsivos, os pacientes responsivos tinham níveis basais mais baixos de HbA1c e GJ, mas a diferença foi estatisticamente significativa somente para glicemia de jejum. Além disso, houve grande sobre-posição entre os dois grupos. CONSLUSÃO: Nossos resultados preliminares sugerem que a TOT com metformina, uma sulfonilureia e vildagliptina pode ser útil para alguns pacientes com DM2 não responsivos à combinação com metformina e uma sulfonilureia.

Gestação após gastroplastia para tratamento de obesidade mórbida: série de casos e revisão da literatura / Pregnancy after gastroplasty for treatment of morbid obesity: a case series and review of the literature

OBJETIVO: relatar a evolução de uma série de casos de gestação em mulheres previamente submetidas à cirurgia de bypass gástrico para tratamento de obesidade grave. MÉTODOS: cinco casos consecutivos de gravidez após gastroplastia ocorridos entre 2001 e 2004 foram avaliados. As pacientes tinham idade entre 30 e 34 anos e todas haviam sido submetidas à cirurgia de Capella. Aspectos clínicos, laboratoriais e do acompanhamento materno e fetal foram considerados, durante o período gestacional e após o parto. Foi realizada revisão da literatura internacional, por meio das bases de dados MEDLINE e Web of Science, utilizando os seguintes unitermos: gastroplasty, gastric bypass surgery, bariatric surgery e pregnancy. RESULTADOS: todas as gestações observadas foram únicas e não ocorreram complicações obstétricas, durante o seguimento pré-natal e parto. Também não houve registro de recém-nascidos prematuros ou de baixo peso ao nascimento. CONCLUSÃO: nossos dados sugerem que a gravidez após gastroplastia é segura para a mãe e feto. Entretanto, em virtude do limitado volume de informação disponível sobre o tema, investigações adicionais são necessárias para estabelecer recomendações apropriadas com relação ao seguimento dessas gestações.

Hiperplasia adrenal congênita: dosagem da 17-hidroxiprogesterona basal para seleção e casos para realização do teste de estímulo com ACTH sintético / Congenital adrenal hyperplasia: measurement of basal 17-hydroxyprogesterone as a screening test to select patients for the synthetic ACTH provocative test

Objetivos: avaliar se os níveis de 17-hidroxiprogesterona podem predizer o resultado do teste de estímulo como diagnóstico de hiperplasia adrenal congênita, forma tardia. Métodos: foram incluídas no estudo e avaliadas retrospectivamente 122 pacientes com suspeita clínica de hiperplasia adrenal congênita forma tardia. Essa suspeita clínica incluía sinais e/ou sintomas de hiperandrogenismo (hirsutismo, acne, pele oleosa, irregularidade menstrual, etc.). Todas as pacientes foram submetidas ao teste de estímulo da adrenal com ACTH sintético 0,25 mg (Synacthen). Após repouso de 60 minutos as amostras foram colhidas nos tempos basal e 60 minutos após a administração de 0,25 mg de ACTH sintético para dosagem de 17-hidroxiprogesterona, sendo mantido o acesso venoso com catéter heparinizado. Foi utilizado o método de radioimunoensaio para realizar as dosagens séricas da 17-hidroxiprogesterona. A sensibilidade e a especificidade da 1 7 -hidroxiprogesterona basal como teste de rastreamento para hiperplasia adrenal congênita foram medidas, avaliando vários pontos de corte. Curvas ROC foram feitas para analisar a performance do teste, utilizando o software Medcalc. Resultados: a análise por curva ROC mostrou um ponto de corte de 181 ng/dl acima do qual dever-se-ia realizar o teste de estímulo, bem próximo a 200 ng/dl, mais comumente aceito pela literatura. Níveis séricos da 17-hidroxiprogesterona mais altos que 200 ng/dl têm valores preditivo positivo e negativo de 75 por cento e 100 por cento e acurácia de 98,4 por cento como diagnóstico de hiperplasia adrenal não-clássica. Conclusões: considerando os dados, sugerimos que pacientes com hiperandrogenismo clínico devam iniciar a investigação com 17-hidroxiprogesterona basal e, caso esta se mostre acima de 181 ng/dl, sigam a investigação com o teste de estímulo com ACTH sintético.