Anormalidades cardiovasculares e metabólicas em pacientes com a síndrome de Berardinelli - SEIP

A Síndrome de Berardinelli-Seip (SBS) ou Lipodistrofia Generalizada Congênita acomete freqüentemente o aparelho cardiovascular e também promove anormalidades metabólicas envolvendo os metabolismos glicídico e lipídico. O objetivo do nosso trabalho foi avaliar a prevalência das anormalidades cardiovasculares e metabólicas em portadores da SBS. Vinte e dois pacientes do estado do Rio Grande do Norte (Brasil), com diagnóstico da SBS, foram submetidos à avaliação clinica, eletrocardiograma de repouso, ecodopplercardiograma, radiografia de tórax, eletrocardiografia dinâmica de 24 horas, teste ergométrico e análise laboratorial. Os pacientes eram predominantemente adultos jovens (n=22) , sendo 14 do sexo feminino. O mais novo tinha 8 e o mais velho 44 anos(22,4±9,7 anos). A totalidade da amostra apresentou resistência à insulina, acanthosis nigricans e HDL-colesterol diminuído. A presença de esplenomegalia, hepatomegalia, diabetes mellitus tipo II e triglicérides elevados eram constantes. A síndrome metabólica foi caracterizada em 81,8% dos pacientes com predominância para sexo feminino e com um alto grau de consangüinidade paterna (86,4%). A hipertensão arterial sistêmica e pré-hipertensão foram encontradas em mais da metade dos pacientes (77.3%). O eletrocardiograma e a radiografia de tórax não foram úteis para identificar a presença de anormalidades cardíacas na SBS, em particular a presença de hipertrofia ventricular esquerda. Para identificar o acometimento cardiovascular foi indispensável o estudo ecodopplercardiografico. Este exame mostrou a presença de hipertrofia concêntrica do ventrículo esquerdo (50%), hipertrofia excêntrica do ventrículo esquerdo (4,5%) e geometria normal do ventrículo esquerdo (45,5%). Disfunção sistólica do ventrículo esquerdo foi encontrada em apenas um paciente (4,5%) e disfunção diastólica em nenhum. Elevada taxa de arritmia foi evidenciada no Holter, tais como, extra-sístoles ventriculares, extra-sístoles supraventriculares e taquicardia supraventricular sustentada. Incompetência cronotrópica (54,5%) foi observada no teste ergométrico. Anormalidades cardiovasculares e metabólicas foram encontradas em elevada prevalência em indivíduos jovens e assintomáticos com SBS. Esses achados xii apontam para a necessidade de acompanhamento cardiológico sistemático e de medidas preventivas nesse grupo de risco

Função autonômica em pacientes portadores de lipodistrofia generalizada congênita - sindrome de berardinelli - SEIP

A Síndrome de Berardinelli-Seip ou Lipodistrofia Generalizada Congênita (LGC) é uma doença rara, com transmissão autossômica recessiva, caracterizada principalmente pela ausência quase total de tecido adiposo. Os pacientes afetados apresentam resistência a insulina, dislipidemia e hipertensão arterial. Estudos têm evidenciado que estas alterações metabólicas interferem na modulação autonômica para o nó sinusal. O principal objetivo deste estudo foi investigar a modulação autonômica em pacientes portadores de LGC, através da variabilidade de freqüência cardíaca (VFC), pelo método linear de domínio de tempo na Eletrocardiografia Dinâmica de 24 horas e estabelecer um critério relativamente simples, não invasivo, para diagnóstico de disfunção autonômica nestes pacientes. Participou voluntariamente deste estudo transversal, um grupo de pacientes portadores de LGC (n=18) na faixa etária de 9,3 a 39,8 anos (21,3 ± 8,3) cuja variabilidade de freqüência cardíaca foi comparada com um grupo de pacientes controles (n=19) com idade de 9,3 a 39,1 anos (21,4 ± 7,8). Todos os voluntários foram submetidos à avaliação clínica, laboratorial, antropométrica e análise de VFC no domínio de tempo através de eletrocardiografia dinâmica de 24 horas. Para análise dos dados relativos aos índices temporais de VFC foram utilizados o MeanRR, SSDN e rMSSD. Pacientes com LGC apresentavam aumento da pressão arterial comparados com indivíduos do grupo controle (sistólica, 131,1 vs 106,3 mmHg, p<0,05); diastólica, 85,0 vs 68,2 mmHg, p<0,05) e 10 tinham critérios para diagnóstico de Hipertensão Arterial e Hipertrofia do Ventrículo Esquerdo. Os níveis de glicose, triglicerídeos, colesterol e HOMA-R eram elevados e 12 pacientes tinham critérios para diabetes mellitus tipo 2. Comparado com os controles, pacientes com LGC tinham diminuição dos índices MeanRR (639,8 vs 780,5 ms, p<0,001), SDNN (79,2 vs 168,5 ms, p<0,001), e rMSSD (15,8 vs 59,6 ms, p<0,001). Em pacientes com LGC, a redução da VFC foi independente de distúrbios metabólicos e hemodinâmicos. Os resultados de nosso experimento indicam que pacientes com LGC apresentavam modulação autonômica anormal caracterizada pelo aumento da freqüência cardíaca e pronunciada redução da VFC, independente de distúrbios metabólicos e hemodinâmicos observados nesta síndrome. O caráter multidisciplinar desse estudo fica contemplado pela interação de profissionais de diversas áreas como: cardiologia, endocrinologia, metabolismo, neurologia, nutrição, etc

Estudo cinético na caracterização do status corporal de zinco na Síndrome de Berardinelli-Seip

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Polimorfismos de nucleotídeo único (SNPS) dos genes PPARy2, lipase lipoproteica, receptor de LDL, apolipoproteina C3, e adiponectina podem modular o perfil lipídico de pacientes com a síndrome de Berardinelli-Seip

A Síndrome de Berardinelli-Seip (SBS) é um distúrbio raro do metabolismo dos lipídios, caracterizada pela ausência quase total de tecido adiposo subcutâneo, hipertrigliceridemia, hipoleptinemia e diabetes insulino resistente ou lipoatrófico. Sua etiologia envolve implicações hipotalâmicas, alterações nos receptores de insulina e mutações nos genes AGPAT2, Gng3lg, CAV1 e PTRF. O tecido adiposo secreta diversas substâncias, tais como: leptina, resistina, adiponectina, esteróides, TNF , IL-6, PAI-1, angiotensinogênio, IGF-1. Muitas delas estão associadas ao diabetes mellitus tipo 2, obesidade e hipertensão. Os PPARs são fatores transcricionais pertencentes à superfamília de receptores nucleares ligantes ativados. Sabe-se que o PPAR , é importante para o metabolismo lipídico e glicídico e que o ligante natural do PPAR é derivado do ácido graxo. Nesse sentido, foram avaliados 24 pacientes portadores da SBS, provenientes do Estado do Rio Grande do Norte, com a mediana das idades de 18,5 anos (0,55 a 47 a), sendo 9 (37,5 %) do gênero masculino e 15 (62,5 %) do gênero feminino. Quanto ao grupo étnico, foram classificados em caucasóides (brancos) 21 (87,5 %) e negróides 3 (12,5 %) pacientes. Foram feitas avaliações clínico-endocrinológica, bioquímica, hormonal, molecular e o estudo dos polimorfismos Adiponectina ADIPOQ, PPARγ2 Pro12Ala, LPL-PvuII, APOC3-SstI e LDLR-AvaII em portadores da SBS. Nesta população nós não encontramos nenhuma associação de parâmetros lipídicos e glicídicos com os polimorfismos LPL-PvuII, APOC3-SstI e LDLR-AvaII. Porém, observamos associação entre Adiponectina ADIPOQ e PPARγ2 Pro12Ala e níveis lipídicos mais elevados, sugerindo um papel biológico para estes fatores, indicando estudos mais aprofundados

Intervenção dietoterápica em portadores de lipodistrofia generalizada congênita do Rio Grande do Norte

Congenital generalized lipodystrophy is a rare genetic disease with autosomal recessive inheritance characterized by the generalized absence of subcutaneous adipose tissue and insulin resistance. The aim of our study was to determine the profile of patients with congenital generalized lipodystrophy (Berardinelli-Seip syndrome) through their clinical history, eating habits, and socioeconomic and cultural aspects; assess food consumption and nutritional status of the study group; propose and evaluate a diet therapy model associated to oral supplementation with zinc to help in the control and prevention of metabolic complications associated to the pathology. Initial assessment of food consumption indicated a voracious appetite in all the patients studied. The introduction of zinc reduced appetite, contributing to patient adherence to the food plan proposed. It was also observed that the proposed diet contributed mainly to glycidic control, specifically with respect to HbA1c. The nutritional status of the patients investigated was adequate in terms of body mass index (BMI), arm muscle circumference (AMC), arm muscle area AMA, but triceps skinfold (TSF) indicated serious malnutrition. Our study is unique in the literature and provides important information to the field of nutrition and to individuals with this pathology. Furthermore, it contemplates the interdisciplinary and multidisciplinary requirements of the Postgraduate Program in Health Sciences of the Federal University of Rio Grande do Norte (UFRN), Natal, Brazil

Perfil periodontal de pacientes portadores de alterações endócrino-metabólicas

Objective- Convinced that periodontium, many times, can show alterations in human health, the aim of these studies was to investigate the periodontal situation in patients with endocrine-metabolic disorders such as, Berardinelli-Seip Syndrome, hyperthyroidism, hypothyroidism and acromegaly. Methods- Eight patients with Berardinelli-Seip Syndrome, 16 acromegalics, 30 hypothyroids, 30 hyperthyroids, and a control group with 35 patients were evaluated. Clinical attachment loss, probing depth, gingival bleeding index, gingival overgrowth and Index of Decayed, Missing and Filled Teeth were measured in each patient. All ethical aspects were rigidly observed, being the study conducted after its approval by the University of Fortaleza Research Ethics Committee. Results- The presence of periodontitis was marked in hyperthyroids and in patients with Berardinelli-Seip Syndrome. Hypothyroids showed not much presence of periodontitis, while all acromegalics presented absence of periodontitis. Conclusions- The protective effect of periodontitis in acromegalic patients is a new finding, whose mechanisms are not yet clear, but may be related to the anabolic effects of growth hormone. The presence of periodontitis in Berardinelli-Seip Syndrome may occur due the early onset of diabetes. In hyperthyroids, the high prevalence of periodontitis could be linked to thyroid hormones effects on bone, explaining also the minor prevalence in hypothyroids

Síndrome de Berardinelli :territorialidade e imaginário

The Syndrome of Berardinelli or Congenital Generalized Lipodystrophy, known popularly in Seridó as "The Magicians", it is considered in the world as a rare syndrome and of few studies. In Rio Grande do Norte, specifically, in the Area of Seridó, an important incidence of bearers was verified. Face to present subject, this work describes in beginning the origin and evolution of the referred syndrome, standing out the genealogy of the families of the bearers in the temporary cutting that dates of the beginning of the century XIX to the current days and, later, it s has as purpose to justify the territorialities and the imaginary of the Syndrome and Berardinelli starting from the lived experiences, of the conidian and of the social practices. That implicates to verify as those people they fragmented certain places, like them they noticed her and they were noticed by the society. The methodological approach for the accomplishment of that research is of qualitative order in a perspective phenomenological, ethnography and historical, once the analysis is not just ruled in the product, but it takes in consideration the life history. The analysis presents the way as the depositions they make sense in the context of the study of the genealogy, of the perception imagery of the society before them and the image constituted by them, of himself and of the other. The data, still, demonstrate that the a lot of people's existence with to Syndrome in Seridó happens due to the consanguinities among the families

Quantitative electroencephalographic comodulation : an investigation of patterns in chronic fatigue syndrome

Introduction. This is a pilot study of quantitative electro-encephalographic (QEEG) comodulation analysis, which is used to assist in identifying regional brain differences in those people suffering from chronic fatigue syndrome (CFS) compared to a normative database. The QEEG comodulation analysis examines spatial-temporal cross-correlation of spectral estimates in the resting dominant frequency band. A pattern shown by Sterman and Kaiser (2001) and referred to as the anterior posterior dissociation (APD) discloses a significant reduction in shared functional modulation between frontal and centro-parietal areas of the cortex. This research attempts to examine whether this pattern is evident in CFS. Method. Eleven adult participants, diagnosed by a physician as having CFS, were involved in QEEG data collection. Nineteen-channel cap recordings were made in five conditions: eyes-closed baseline, eyes-open, reading task one, math computations task two, and a second eyes-closed baseline. Results. Four of the 11 participants showed an anterior posterior dissociation pattern for the eyes-closed resting dominant frequency. However, seven of the 11 participants did not show this pattern. Examination of the mean 8-12 Hz amplitudes across three cortical regions (frontal, central and parietal) indicated a trend of higher overall alpha levels in the parietal region in CFS patients who showed the APD pattern compared to those who did not have this pattern. All patients showing the pattern were free of medication, while 71% of those absent of the pattern were using antidepressant medications. Conclusions. Although the sample is small, it is suggested that this method of evaluating the disorder holds promise. The fact that this pattern was not consistently represented in the CFS sample could be explained by the possibility of subtypes of CFS, or perhaps co-morbid conditions. Further, the use of antidepressant medications may mask the pattern by altering the temporal characteristics of the EEG. The results of this pilot study indicate that further research is warranted to verify that the pattern holds across the wider population of CFS sufferers.

Understanding the literacy difficulties of students with Asperger's syndrome in middle years' classrooms

Among the students in Australian classrooms who are experiencing learning difficulties are increasing numbers of children who have been diagnosed with Asperger's syndrome. Although the general cognitive and language abilities of these students are comparable with most of their peers, they experience significant difficulties with social communication, social interactions and social-emotional/behavioural functioning. Despite indications that there are features inherent in Asperger's syndrome that are likely to have a negative effect on the development of advanced literacy skills, studies to date have primarily focused on social-emotional/behavioural challenges. Without effective literacy skills, however, students' access to educational and career opportunities may be curtailed. This article reviews features of Asperger's syndrome that appear to have a negative impact upon the development of advanced literacy skills and suggests ways in which inclusive classroom teachers could support the development of their learners.

A longitudinal study of motivation and competence in children with Down syndrome : early childhood to early adolescence

Background Motivation has been identified as an area of difficulty for children with Down syndrome. Although individual differences in mastery motivation are presumed to have implications for subsequent competence, few longitudinal studies have addressed the stability of motivation and the predictive validity of early measures for later academic achievement, especially in atypical populations. Method The participants were 25 children with Down syndrome. Mastery motivation, operationalised as persistence, was measured in early childhood and adolescence using tasks and parent report. At the older age, preference for challenge, another aspect of mastery motivation, was also measured and the children completed assessments of academic competence. Results There were significant concurrent correlations among measures of persistence at both ages, and early task persistence was associated with later persistence. Persistence in early childhood was related to academic competence in adolescence, even when the effects of cognitive ability at the younger age were controlled. Conclusions For children with Down syndrome, persistence appears to be an individual characteristic that is relatively stable from early childhood to early adolescence. The finding that early mastery motivation is significant for later achievement has important implications for the focus of early interventions.

Maternal support for autonomy : relationships with persistence for children with Down syndrome and typically developing children

Maternal behaviors and child mastery behaviors were examined in 25 children with Down syndrome and 43 typically developing children matched for mental age (24–36 months). During a shared problem-solving task, there were no group differences in maternal directiveness or support for autonomy, and mothers in the two groups used similar verbal strategies when helping their child. There were also no group differences in child mastery behaviors, measured as persistence with two optimally challenging tasks. However, the two groups differed in the relationships of maternal style with child persistence. Children with Down syndrome whose mothers were more supportive of their autonomy in the shared task displayed greater persistence when working independently on a challenging puzzle, while children of highly directive mothers displayed lower levels of persistence. For typically developing children, persistence was unrelated to maternal style, suggesting that mother behaviors may have different causes or consequences in the two groups.