Maria Helane Costa Gurgel

Gonadotrophic axis dysfunction in men with HIV-infection/AIDS.

Gonadotrophic axis dysfunction is commonly observed in HIV-infected patients. The pathogenesis 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, decreased bone mineral density, lipodystrophy, depression, asthenia, fatigue and sexual dysfunction. In HIV-infected 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 gonadotrophic axis associated with HIV infection and its treatment.

Positioning about the Flexibility of Fasting for Lipid Profiling

Arq Bras Cardiol. 2017; 108(3):195-197 Positioning about the Flexibility of Fasting for Lipid Profiling Marileia Scartezini,1 Carlos Eduardo dos Santos Ferreira,2 Maria Cristina Oliveira Izar,3 Marcello Bertoluci,4 Sergio Vencio,5 Gustavo Aguiar Campana,2 Nairo Massakazu Sumita,2 Luiz Fernando Barcelos,1 André A. Faludi,3 Raul D. Santos,3, Marcus Vinícius Bolívar Malachias,3 Jerolino Lopes Aquino,1 César Alex de Oliveira Galoro,2 Cleide Sabino,4 Maria Helane Costa Gurgel,4 Luiz Alberto Andreotti Turatti,5 Alexandre Hohl,4 Tania Leme da Rocha Martinez3 Sociedade Brasileira de Análises Clínicas (SBAC),1 Rio de Janeiro, RJ; Sociedade Brasileira de Patologia Clínica/Medicina Laboratorial (SBPC/ ML),2 Rio de Janeiro, RJ; Sociedade Brasileira de Cardiologia (SBC),3 Rio de Janeiro, RJ; Sociedade Brasileira de Endocrinologia e Metabologia (SBEM),4 Rio de Janeiro, RJ; Sociedade Brasileira de Diabetes (SBD),5 São Paulo, SP – Brazil

E449X mutation in the thyroid hormone receptor β associated with autoimmune thyroid disease and severe neuropsychomotor involvement

OBJECTIVE To report the clinical and molecular aspects of a patient with a diagnosis of Resistance to Thyroid Hormone (RTH) harboring the E449X mutation associated with autoimmune thyroid disease and severe neuropsychomotor retardation. METHODS We present a case report including clinical and laboratory findings, and molecular analysis of a Brazilian patient with RTH. RESULTS A 23-year old male presented hyperactivity disorder, attention deficit, delayed neuropsychomotor development, and goiter. Since the age of 1 year and 8 months, his mother had sought medical care for her son for the investigation of delayed neuropsychomotor development associated with irritability, aggressiveness, recurrent headache, profuse sudoresis, intermittent diarrhea, polyphagia, goiter, and low weight. Laboratory tests revealed normal TSH, increased T3, T4, antithyroglobulin and antimicrosomal antibody titers. Increasing doses of levothyroxine were prescribed, reaching 200 microg/day, without significant changes in his clinical-laboratory picture. Increasing doses of tiratricol were introduced, with a clear clinical improvement of aggressiveness, hyperactivity, tremor of the extremities, and greater weight gain. Molecular study revealed a nonsense mutation in exon 10, in which a substitution of a guanine to tyrosine in nucleotide 1345 (codon 449) generates the stop codon TAA, confirming the diagnosis of RTH. CONCLUSION This patient has severe neuropsychomotor retardation not observed in a single previous report with the same mutation. This may reflect the lack of a genotype-phenotype correlation in affected cases with this syndrome, suggesting that genetic variability of factors other than beta receptor of thyroid hormone (TRbeta) might modulate the phenotype of RTH.

Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy

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.

Projeto sala de espera: uma proposta para a educação em diabetes - doi:10.5020/18061230.2006.p197

Education is an essential aspect of diabetic care. For this, many strategies have been searched. The objectives of the present study were to describe “The Waiting Room Project”, a proposal based on using the time in which the patient waits for individual attendance, to promote Diabetes Education; and to evaluate the clinical and epidemiological profile of diabetic participants of this project. Twenty meetings were conducted from March to October 2006, with 350 patients followed-up at the Diabetes Clinics of Walter Cantidio University Hospital-UFC, and their companions. Of these, 76 randomly assigned patients were interviewed. The meetings occurred on each Friday, in 2 sessions of approximately half hour, which were coordinated by a multidisciplinary team, and took into account 25 patients each. At the end, a breakfast was served and used for nutritional education. Among the interviewed participants, women prevailed (85.5%), with mean age of 60.4±9.1 years, and average time of diagnosis of 10.6±5.9 years. In relation to treatment, 40.7% used insulin, 63.1% used oral anti-diabetics and 9.2% only adopted life style changes. Drugs compliance was present in only 47.8% of the participants and the majority (67.1%) did not practice physical activities. Regarding to the diet, only 31.5% fully adhered to it. More than 75% of the participants could read and write, and earned a minimum wage or less. From the observations derived from practice, one may perceive: a greater motivation of the patients after each meeting, a more active participation in doctor’s appointments and an increasing interest on their disease and care. To provide the participation of diabetic patients in their treatments, stimulating self-care, is a challenge to be reached by all health units, and that can be favored by strategies like this described.