BackgroundMetabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CGL compared with individuals with type 1 diabetes and healthy subjects.MethodsTen patients with CGL, 20 patients with type 1 diabetes and 20 healthy subjects were included in the study. Controls were paired 1:2 for age, gender, BMI and pubertal stage. Heart rate variability (HRV) was analyzed using cardiovascular autonomic reflex tests, including postural hypotension test, Valsalva (VAL), respiratory (E/I) and orthostatic (30/15) coefficients, and spectral analysis of the HRV, determining very low (VLF), low (LF) and high (HF) frequencies components. The diagnosis of CAN was defined as the presence of at least two altered tests.ResultsCAN was detected in 40% of the CGL patients, 5% in type 1 diabetes patients and was absent in healthy individuals (p < 0.05). We observed a significant reduction in the E/I, VLF, LF and HF in CGL cases vs. type 1 diabetes and healthy individuals and lower levels of 30/15 and VAL in CGL vs. healthy individuals. A significant positive correlation was observed between leptin and 30/15 coefficient (r = 0.396; p = 0.036) after adjusting for insulin resistance and triglycerides. Autonomic cardiovascular tests were associated with HbA1c, HOMA-IR, triglycerides and albumin/creatinine ratio in CGL cases.ConclusionsWe observed a high prevalence of CAN in young patients with CGL, suggesting that insulin resistance, hypertriglyceridemia and hypoleptinemia, may have been involved in early CAN development. Additional studies are needed to evaluate the role of leptinemia in the physiopathogenesis of the condition.Electronic supplementary materialThe online version of this article (10.1186/s12872-017-0738-4) contains supplementary material, which is available to authorized users.

RESUMOA disfunção do eixo gonadotrófico é frequentemente observada em pacientes infectados pelo HIV. A patogênese é multifatorial e está relacionada à duração da infecção pelo HIV, aos efeitos citopáticos diretos do vírus, ao uso de drogas gonadotóxicas, às infecções oportunistas, às neo plasias, à desnutrição, entre outros fatores. Em homens, a redução dos níveis de testosterona está associada à perda de massa e de força muscular, à redução da densidade mineral óssea, à lipodistrofia, à depressão, à astenia, à fadiga e à disfunção sexual. Em pacientes infectados pelo HIV com hipogonadismo, inúmeros estudos têm comprovado os efeitos benéficos da reposição de testosterona sobre o perfil metabólico e a distribuição da gordura corporal, com aumento da massa corporal magra, além de promover melhora da qualidade de vida, reduzir a perda de mas sa óssea e reduzir os índices de depressão. Assim, esta revisão teve como objetivo trazer uma breve atualização sobre o presente tema, abordando dados epidemiológicos, mecanismos fisio patológicos e estratégias terapêuticas para as principais anormalidades do eixo gonadotrófico masculino associadas à infecção pelo HIV e ao seu tratamento. ABSTRACTGonadotrophic axis dysfunction is commonly observed in HIVinfected patients. The pathogen esis is multifactorial and related to duration of HIV infection, direct cytopathic effects of viruses, use of drugs, opportunistic infections, malignancies, and malnutrition, among other factors. In men, reduced levels of testosterone is associated with loss of muscle mass and strength, de creased bone mineral density, lipodystrophy, depression, asthenia, fatigue and sexual dysfunc tion. In HIVinfected patients with hypogonadism, numerous studies have shown the beneficial effects of testosterone replacement on the metabolic profile and distribution of body fat, with increased body mass weight, and promote better quality of life, reduce the bone mass loss and the rates of depression. Thus, this review aimed to present a brief update of epidemiologic data, pathophysiology aspects and treatment strategies for the major abnormalities of male gonado trophic axis associated with HIV infection and its treatment. Arq Bras Endocrinol Metab. 2009;53(8):983-8

Background Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by the absence of subcutaneous adipose tissue, severe insulin resistance, diabetes mellitus, and cardiovascular complications, including cardiac autonomic neuropathy (CAN), left ventricular hypertrophy (LVH), and atherosclerosis. The present study aimed to access the association between CAN parameters and cardiovascular abnormalities in CGL patients. Methods A cross-sectional study was conducted with 10 CGL patients and 20 healthy controls matched for age, sex, BMI, and pubertal stage. We evaluated clinical, laboratory, and cardiovascular parameters—left ventricular mass index (LVMI), interventricular septum thickness (IVS), systolic and diastolic function determined by two-dimensional transthoracic echocardiography; carotid intimal media thickness (cIMT); and cQT interval. Heart rate variability (HRV) was evaluated by spectral analysis components—high frequency (HF), low frequency (LF), very low frequency (VLF), LF/HF ratio, and total amplitude spectrum (TAS)—and cardiovascular reflexes tests (postural hypotension test, respiratory, orthostatic and Valsalva coefficients). Results In CGL group, four patients (40%) had LVH and diastolic dysfunction. HF component (parasympathetic control) was lower in LVH patients. CGL patients presented higher values of cIMT and cQT interval than heathy subjects. Inverse association between LVMI and LF (p = 0.011), IVS and LF (p = 0.007), and cIMT and leptin (p < 0.001) were observed, even after adjustments by HOMA-IR, A1c, and blood pressure. In CGL group, there were associations between LMVI and HF component (IC95%: − 1.000; − 00.553), LVMI and TAS (IC95%: − 1.000; − 0.012), and IVS and HF component (IC95%: − 1.000; − 0.371). Conclusion The association between increased LV mass and parameters of HRV provides possible speculations about the involvement of CAN in the pathophysiology of the cardiac complications, including LVH, in patients with CGL. Electronic supplementary material The online version of this article (10.1186/s13098-019-0444-8) contains supplementary material, which is available to authorized users.

SUMÁRIOA substituição gradual e progressiva das doenças infecciosas e parasitárias pelas doenças crônico-degenerativas como causas de morbidade e mortalidade, caracterizando o processo de transição epidemiológica, não tem sido observada em várias populações, em especial em países subdesenvolvidos ou em desenvolvimento, verificando-se, na realidade, uma sobreposição desses perfis (transição incompleta). Além do aumento da prevalência de distúrbios metabólicos, várias doenças infecciosas permanecem endêmicas em diversas regiões, como é o caso da hanseníase, da tuberculose, da leishmaniose, das hepatites virais, entre outras, assim como condições emergentes nas últimas décadas, como a infecção pelo HIV/Aids. Nesse contexto, nos últimos anos tem sido dada uma maior atenção para a ocorrência de distúrbios metabólicos, principalmente a partir da observação de elevada incidência dessas anormalidades associadas à infecção pelo HIV/Aids e à sua terapia com as drogas antirretrovirais. Nesta revisão são abordados aspectos clínico-epidemiológicos dos distúrbios metabólicos reportados em algumas enfermidades infectoparasitárias de relevância mundial e local (no Brasil), assim como possíveis mecanismos e fatores envolvidos nessas associações. Arq Bras Endocrinol Metab. 2010;54(9):785-92 Descritores Infecção; distúrbios metabólicos; diabetes melito; doença cardiovascular; tuberculose; HIV; Aids; hepatite; hanseníase; leishmaniose SUMMARYThe gradual and progressive replacement of infectious and parasitic by chronic diseases as causes of morbidity and mortality, characterizing the process of epidemiological transition hasn't been observed in various populations, especially in underdeveloped or developing countries characterizing a superposition of these profiles (incomplete transition). Besides the increased prevalence of metabolic disorders, various infectious diseases remain endemic in several regions, such as leprosy, tuberculosis, leishmaniasis, viral hepatitis, among others, as well as emerging diseases in recent decades, as HIV infection/Aids. In this context, more attention has been given to the occurrence of metabolic disturbances in the recent years, mainly from the observation of a high incidence of metabolic disorders associated with HIV infection/Aids, and its therapy with antiretroviral drugs. This review addresses clinical and epidemiological aspects of metabolic disturbances reported in some infectious and parasitic diseases with worldwide and local (Brazil) relevance, as well as possible mechanisms and factors involved in these associations. Arq Bras Endocrinol Metab. 2010;54(9):785-92

Objective: This study aimed to determine the thyroid-stimulating hormone (TSH) reference interval (RI) and to assess the influence of the use of thyroid ultrasonography (TUS) on reference individual selection from a healthy adult population in Fortaleza, Brazil. Subjects and methods: This crosssectional study recruited patients (N = 272; age = 18-50 years) with normal thyroid function (NTF) and placed them in three groups according to their test results: NTF (n = 272; all participants), TUS (n = 170; participants who underwent thyroid US), RI (n = 124; reference individuals with normal TSH levels). TSH, FT4, TT3, TgAb, and TPOAb concentrations were determined by electrochemiluminescence assay. TUS was performed using a 7-12 MHz multifrequency linear transducer by two radiologists. The 2.5 th and 97.5 th percentiles of the distribution curve corresponded to lower and upper TSH RI levels, respectively. Results: The mean TSH level was 1.74 ± 0.96 mIU/L, and TSH range was 0.56-4.45 mIU/L. There was no difference in the TSH concentrations between men and women nor between the groups. TUS did not appear to be an essential tool for the reference group selection. Conclusion: The upper limit of TSH was comparable to the reference interval provided by the assay manufacturer (4.45 vs. 4.20 mIU/L) but the lower limit was not (0.56 vs. 0.27 mIU/L). This finding may have a clinical impact since these values may lead to the misdiagnosis of euthyroid patients with subclinical hyperthyroidism.

Waiting room project: a proposal for diabetes education RESUMOA educação é um aspecto fundamental do cuidado do diabético. Para tal, várias estratégias têm sido buscadas. Os objetivos do presente estudo foram descrever o "Projeto Sala de Espera", uma proposta que se baseia na utilização do período em que o paciente aguarda o atendimento individual para promover educação em diabetes; e avaliar o perfil clínicoepidemiológico dos diabéticos participantes deste projeto. Foram realizadas 20 reuniões, de março a outubro de 2006, com 350 pacientes seguidos no Ambulatório de Diabetes, do Hospital Universitário Walter Cantídio -UFC e seus acompanhantes. Desses, 76 pacientes, selecionados aleatoriamente, foram entrevistados. As reuniões ocorriam a cada sexta-feira, em 2 sessões de aproximadamente meia-hora, que eram dirigidas por equipe uma multidisciplinar, e contavam com 25 participantes em cada. Ao término, era servido um café da manhã, o qual era utilizado para a educação nutricional. Entre os entrevistados, predominaram mulheres (85,5%), com média de idade 60,4±9,1 anos e tempo médio de diagnóstico de 10,6±5,9anos. Em relação ao tratamento, dos participantes, 40,7% usavam insulina; 63,1% antidiabéticos orais e 9,2% adotavam apenas mudanças no estilo de vida. A adesão às drogas era contínua em apenas 47,8% e a maioria (67,1%) não praticava atividades físicas. Quanto a dietoterapia, somente 31,5% aderiam plenamente. Mais de 75% dos avaliados eram alfabetizados e recebiam um salário mínimo ou menos. A partir das observações oriundas da prática, podese perceber: maior motivação dos pacientes após cada reunião, participação mais ativa nas consultas médicas e um crescente interesse sobre a sua enfermidade e o seu cuidado. Proporcionar a participação do diabético no seu tratamento, estimulando o autocuidado, é um desafio a ser alcançado por todos os serviços de saúde e que pode ser facilitada com a utilização de propostas como a descrita.

Background: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26). Methods: Clinical features and laboratory were obtained by medical interview and medical records review. DNA was extracted, amplified and sequenced. Mutation Taster was used to estimate the potential biological impact of the AGPAT2 mutations on the protein function. Results: Patient 1: a 30-year-old woman with lipodystrophy phenotype at birth and diagnosis of diabetes at age 13 presented with severe hypertriglyceridemia and pancreatitis at age 17, hypertension and albuminuria at age 18, proliferative diabetic retinopathy with visual loss at age 25, and an acute myocardial infarction due to multivessel coronary disease during a hospitalization for forefoot amputation at age 29. At this time, she required hemodialysis due to endstage renal disease. Patient 2: a 12-year-old girl with lipodystrophy phenotype and hypertriglyceridemia detected in the first year of life and abnormalities in the global longitudinal strain, evaluated by speckle-tracking echocardiography last year. Molecular analysis identified a c.369_372delGCTC (p.Leu124Serfs*26) AGPAT2 mutation in both unrelated patients, a compound heterozygous mutation in Patient 1, and homozygous mutation in Patient 2. Conclusion: We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.

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