Navegando por Autor "SILVA, Luiz Carlos Santana da"

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Avaliação antropométrica de pacientes com suspeita de erros inatos do metabolismo
(Universidade Federal do Pará, 2012-09) SILVA, Francilia de Kássia Brito; OLIVEIRA, Ana Paula Pereira de; SILVA, Luiz Carlos Santana da
Objectives: to provide an anthropometric evaluation of patients suspected of having innate errors of metabolism (IEMs) and report the prevalence of nutritional disorders (malnutrition, overweight and obesity). Methods: fifty-five patients aged between 0 and 10 years were evaluated for anthropometric indices (H/A, W/A and W/H and BMI/A), in the innate errors of metabolism laboratory (LEIM) of the Federal University of Pará, using scales and an anthropometer. The data were collected using an LEIM form. Nutritional diagnosis was carried out using the Anthro and Anthro Plus programs and the SPSS statistics package. Results: the patients attended were mostly aged between seven months and nine years. The main symptoms were delayed neuropsychomotor development and frequent infections. As for the nutritional status, a deficit of 23.7% was observed in weight for age, a deficit of 50.9% in height for age, and the prevalence of overweight and obesity was 15.4% according to weight for height, and 25,1% according to body mass index for age. Conclusions: the nutritional status of the patients was inadequate and, given the absence of a diagnosis of IEMs, the factors involved should be investigated more thoroughly.
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Diagnosis and management of classica homocystinuria in Brazil: a summary of 72 late-diagnosed patients
(Latin American Society Inborn Errors and Neonatal Screening, 2019-02) POLONI, Soraia; HOSS, Giovana Regina Weber; SPERB-LUDWIG, Fernanda; BORSATTO, Taciane; RODOVALHO-DORIQUI, Maria Juliana; LEÃO, Emília Katiane Embiruçu de Araújo; BOA-SORTE, Ney Cristian Amaral; LOURENÇO, Charles Marques; AE KIM, Chong; ROCHA, Hélio Fernandes da; RIBEIRO, Márcia Goncalves; STEINER, Carlos Eduardo; MORENO, Carolina Araujo; BERNARDI, Pricila; VALADARES, Eugênia Ribeiro; ARTIGALÁS, Osvaldo Alfonso Pinto; CARVALHO, Gerson da Silva; WANDERLEY, Hector Yuri Conti; SILVA, Luiz Carlos Santana da; SCHWARTZ, Ida Vanessa Doederlein; SOUZA, Carolina Fischinger Moura de; D'ALMEIDA, Vânia; BLOM, Henk J.
This study described a broad clinical characterization of classical homocystinuria (HCU) in Brazil. This was a cross-sectional, observational study including clinical and biochemical data from 72 patients (60 families) from Brazil (South, n = 13; Southeast, n = 37; Northeast, n = 8; North, n = 1; and Midwest, n = 1). Parental consanguinity was reported in 42% of families. Ocular manifestations were the earliest detected symptom (53% of cases), the main reason for diagnostic suspicion (63% of cases), and the most prevalent manifestation at diagnosis (67% of cases). Pyridoxine responsiveness was observed in 14% of patients. Only 22% of nonresponsive patients on treatment had total homocysteine levels <100 mmol/L. Most commonly used treatment strategies were pyridoxine (93% of patients), folic acid (90%), betaine (74%), vitamin B12 (27%), and low-methionine diet + metabolic formula (17%). Most patients diagnosed with HCU in Brazil are late diagnosed, express a severe phenotype, and poor metabolic control. Milder forms of HCU are likely underrepresented due to underdiagnosis.
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Dislipidemia em escolares na rede privada de Belém
(2009-06) RIBAS, Simone Augusta; SILVA, Luiz Carlos Santana da
BACKGROUND: Currently, childhood dyslipidemia, associated to other non-transmissible diseases such as diabetes, hypertension and obesity, represent a significant public health problem in Brazil. OBJECTIVE: To investigate the prevalence of dyslipidemia in children and adolescents from private schools in the city of Belem, state of Para, Brazil. METHODS: Transversal and prospective study that assessed 437 schoolchildren, paired by sex. The age range was established between 6 and 19 years of age and stratified in four subgroups (6 to 9 years; 10 to 12 years; 13 to 15 years and 16 to 19 years). To obtain the anthropometric variables, weight and height were measured for the calculation of the body mass index and skin folds were measured for the calculation of body fat percentage. The serum lipoprotein profile was obtained through the measurement of total cholesterol, triglycerides, LDL-cholesterol and HDL-cholesterol after a 12-hour fasting period, by enzymatic methods. RESULTS: Of the total number of schoolchildren analyzed, 126 (28.8%) were overweight and 158 (36.2%) presented a high adiposity index. The children (33.6%) presented a higher prevalence of obesity when compared to the adolescents (10.1%; p < 0.001). Regarding the biochemical characteristics, it was observed that 214 (41%) presented some alteration in the lipid profile and that children and adolescents in the age range of 10 to 15 years were the age groups that presented the highest rates of dyslipidemia (34.6% and 25.5%), respectively. CONCLUSION: These findings demonstrate the importance of establishing an early diagnosis of the lipid profile, mainly if it is already associated to another risk factor, such as obesity.
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Dislipidemia em escolares na rede privada de Belém
(Sociedade Brasileira de Cardiologia, 2009-06) RIBAS, Simone Augusta; SILVA, Luiz Carlos Santana da
Background: Currently, childhood dyslipidemia, associated to other non-transmissible diseases such as diabetes, hypertension and obesity, represent a significant public health problem in Brazil. Objective: To investigate the prevalence of dyslipidemia in children and adolescents from private schools in the city of Belem, state of Para, Brazil. Methods: Transversal and prospective study that assessed 437 schoolchildren, paired by sex. The age range was established between 6 and 19 years of age and stratified in four subgroups (6 to 9 years; 10 to 12 years; 13 to 15 years and 16 to 19 years). To obtain the anthropometric variables, weight and height were measured for the calculation of the body mass index and skin folds were measured for the calculation of body fat percentage. The serum lipoprotein profile was obtained through the measurement of total cholesterol, triglycerides, LDL-cholesterol and HDL-cholesterol after a 12-hour fasting period, by enzymatic methods. Results: Of the total number of schoolchildren analyzed, 126 (28.8%) were overweight and 158 (36.2%) presented a high adiposity index. The children (33.6%) presented a higher prevalence of obesity when compared to the adolescents (10.1%; p < 0.001). Regarding the biochemical characteristics, it was observed that 214 (41%) presented some alteration in the lipid profile and that children and adolescents in the age range of 10 to 15 years were the age groups that presented the highest rates of dyslipidemia (34.6% and 25.5%), respectively. Conclusion: These findings demonstrate the importance of establishing an early diagnosis of the lipid profile, mainly if it is already associated to another risk factor, such as obesity. (Arq Bras Cardiol 2009; 92(6) : 412-417).
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Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network
(2014) DORNELLES, Alicia Dorneles; PINTO, Louise Lapagesse de Carmargo; PAULA, Ana Carolina de; STEINER, Carlos Eduardo; LOURENÇO, Charles Marques; KIM, Chong Ae; HOROVITZ, Dafne Dain Gandelman; RIBEIRO, Erlane Marques; VALADARES, Eugênia Ribeiro; GOULART, Isabela; SOUZA, Isabel Cristina Neves de; NERI, João Ivanildo da Costa Ferreira; SILVA, Luiz Carlos Santana da; SILVA, Luiz Roberto; RIBEIRO, Márcia Gonçalves; OLIVEIRA SOBRINHO, Ruy Pires de; GIUGLIANI, Roberto; SCHWARTZ, Ida Vanessa Doederlein
Mucopolysaccharidosis type I (MPS I) is a rare lysosomal disorder caused by deficiency of alpha-L-iduronidase. Few clinical trials have assessed the effect of enzyme replacement therapy (ERT) for this condition. We conducted an exploratory, open-label, non-randomized, multicenter cohort study of patients with MPS I. Data were collected from questionnaires completed by attending physicians at the time of diagnosis (T1; n = 34) and at a median time of 2.5 years later (T2; n = 24/34). The 24 patients for whom data were available at T2 were allocated into groups: A, no ERT (9 patients; median age at T1 = 36 months; 6 with severe phenotype); B, on ERT (15 patients; median age at T1 = 33 months; 4 with severe phenotype). For all variables in which there was no between-group difference at baseline, a delta of ≥ ± 20% was considered clinically relevant. The following clinically relevant differences were identified in group B in T2: lower rates of mortality and reported hospitalization for respiratory infection; lower frequency of hepatosplenomegaly; increased reported rates of obstructive sleep apnea syndrome and hearing loss; and stabilization of gibbus deformity. These changes could be due to the effect of ERT or of other therapies which have also been found more frequently in group B. Our findings suggest MPS I patients on ERT also receive a better overall care. ERT may have a positive effect on respiratory morbidity and overall mortality in patients with MPS I. Additional studies focusing on these outcomes and on other therapies should be performed.
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Estudo de mutações no gene GJB2 e deleção delGJB6-D13S1830 em indivíduos com surdez não sindrômica da região Amazônica
(2013-02) CASTRO, Luciana Santos Serrão de; MARINHO, Anderson Nonato do Rosario; RODRIGUES, Elzemar Martins Ribeiro; MARQUES, Giorgio Christie Tavares; CARVALHO, Tarcísio André Amorim de; SILVA, Luiz Carlos Santana da; SANTOS, Sidney Emanuel Batista dos
Hearing impairment affects about 1 in 1000 newborns. Mutations in the connexin 26 (GJB2) gene rank among the most frequent causes of non-syndromic deafness in different populations, while delGJB6-D13S1830 mutation located in the DFNB30 locus is known to cause sensorineural hearing loss. Despite the many studies on the involvement of GJB2 mutations in hearing impairment in different populations, there is little information on genetic deafness in Brazil, especially in the Amazon region. OBJECTIVE: To determine the prevalence of GJB2 mutations and delGJB6-D13S1830 in 77 sporadic non-syndromic deaf patients. METHOD: The coding region of the GJB2 gene was sequenced and polymerase chain reaction was performed to detect the delGJB6-D13S1830 mutation. RESULTS: Mutant allele 35delG was found in 9% of the patients (7/77). Mutations M34T and V95M were detected in two distinct heterozygous patients. Non-pathogenic mutation V27I was detected in 28.6% of the patients (22/77). None of the deaf patients carried the delGJB6-D13S1830 mutation. CONCLUSION: Mutant alleles on gene GJB2 were observed in 40% (31/77) of the subjects in the sample. Pathogenic variants were detected in only 12% (9/77) of the individuals. More studies are required to elucidate the genetic causes of hearing loss in miscegenated populations.
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Fatores de risco cardiovascular e fatores associados em escolares do Município de Belém, Pará, Brasil
(Escola Nacional de Saúde Pública Sergio Arouca, Fundação Oswaldo Cruz, 2014-03) RIBAS, Simone Augusta; SILVA, Luiz Carlos Santana da
This cross-sectional study aimed to identify risk factors for cardiovascular disease in a stratified cluster sample of 557 schoolchildren (6-19 years) in Belém, Pará State, Brazil. Potential risk factors were obesity, hypertension, dyslipidemia, diabetes, smoking, physical inactivity, and atherogenic diet. Socio-demographic and lifestyle variables were tested in a binary logistic regression model. The most prevalent risk factors were overweight (20.4%), dyslipidemia (48.1%), and physical inactivity (66.2%). Children below ten years of age and those from higher-income families and with higher maternal schooling showed greater odds of developing overweight; meanwhile, those with overweight were more prone to developing hypercholesterolemia and hypertriglyceridemia. The findings point to the need to implement strategies to prevent overweight in early childhood, through balanced nutrition and regular physical activity, in order to effectively reduce the prevalence of risk factors in schoolchildren.
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GBA mutations p.N370S and p.L444P are associated with Parkinson's disease in patients from Northern Brazil
(Universidade Federal do Pará, 2019) AMARAL, Carlos Eduardo de Melo; LOPES, Patrick Farias; FERREIRA, Juliana Cristina Cardoso; ALVES, Erik Artur Cortinhas; MONTENEGRO, Marcella Vieira Barroso; COSTA, Edmar Tavares da; YAMADA, Elizabeth Sumi; CAVALCANTE, Fernando Otávio Quaresma; SILVA, Luiz Carlos Santana da
Mutations of the GBA gene have been reported in patients with Parkinson's disease (PD) from a number of different countries, including Brazil. In order to confirm this pattern in a sample of PD patients from northern Brazil, we conducted a case-control study of the occurrence of the two most common mutations of the GBA gene (c.1226A>G; p.N370S and c.1448T>C; p.L444P) in a group of 81 PD patients and 81 control individuals, using PCR-RFLP, confirmed by the direct sequencing of the PCR products. In the patient group, three patients (3.7%) were heterozygous for the GBA c.1226A>G; p.N370S mutation, and three (3.7%) for GBA c.1448T>C; p.L444P Neither mutation was detected in the control group (p =0.0284). Patients with the c.1448T>C; p.L444P mutation showed a tendency to have an earlier disease onset, but a larger sample number is required to confirm this observation. Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
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Mucopolysaccharidoses in northern Brazil: targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy
(2011) VIANA, Gustavo Monteiro; LIMA, Nathalia Oliveira de; CAVALEIRO, Rosely Maria dos Santos; ALVES, Erik Artur Cortinhas; SOUZA, Isabel Cristina Neves de; FEIO, Raimunda Helena; LEISTNER-SEGAL, Sandra; SCHWARTZ, Ida Vanessa Doederlein; GIUGLIANI, Roberto; SILVA, Luiz Carlos Santana da
Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT) has been shown to reduce accumulation and urinary excretion of GAG, and to improve some of the patients' clinical signs. We studied biochemical and molecular characteristics of nine MPS patients (two MPS I, four MPS II and three MPS VI) undergoing ERT in northern Brazil. The responsiveness of ERT was evaluated through urinary GAG excretion measurements. Patients were screened for eight common MPS mutations, using PCR, restriction enzyme tests and direct sequencing. Two MPS I patients had the previously reported mutation p.P533R. In the MPS II patients, mutation analysis identified the mutation p.R468W, and in the MPS VI patients, polymorphisms p.V358M and p.V376M were also found. After 48 weeks of ERT, biochemical analysis showed a significantly decreased total urinary GAG excretion in patients with MPS I (p < 0.01) and MPS VI (p < 0.01). Our findings demonstrate the effect of ERT on urinary GAG excretion and suggest the adoption of a screening strategy for genotyping MPS patients living far from the main reference centers.
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Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment
(2010) GIUGLIANI, Roberto; FEDERHEN, Andressa; MUÑOZ ROJAS, Maria Verónica; VIEIRA, Taiane Alves; ARTIGALÁS, Osvaldo Alfonso Pinto; PINTO, Louise Lapagesse de Carmargo; AZEVEDO, Ana Cecília Medeiros Mano; ACOSTA, Angelina Xavier; BONFIM, Carmem Maria Sales; LOURENÇO, Charles Marques; KIM, Chong Ae; HOROVITZ, Denize Bonfim; NORATO, Denise Yvonne Janovitz; MARINHO, Diane Ruschel; PALHARES, Durval Batista; SANTOS, Emerson Santana; RIBEIRO, Erlane Marques; VALADARES, Eugênia Ribeiro; GUARANY, Fábio Coelho; LUCCA, Gisele Rosone de; PIMENTEL, Helena; SOUZA, Isabel Cristina Neves de; CORRÊA NETO, Jordão; FRAGA, José Carlos; GÓES, José Eduardo Coutinho; CABRAL, José Maria; SIMIONATO, José; LLERENA JUNIOR, Juan Clinton; JARDIM, Laura Bannach; GIULIANI, Liane de Rosso; SILVA, Luiz Carlos Santana da; SANTOS, Mara Lucia Schmitz Ferreira; MOREIRA, Maria Ângela; KERSTENETZKY, Marcelo Soares; RIBEIRO, Márcia Gonçalves; GUARANY, Nicole Ruas; BARRIOS, Patricia Martins Moura; ARANDA, Paulo Cesar; HONJO, Rachel Sayuri; SILVA, Raquel Tavares Boy da; COSTA, Ronaldo; SOUZA, Carolina Fischinger Moura de; ALCANTARA, Flavio Ferraz de Paes e; AVILLA, Sylvio Gilberto Andrade; FAGONDES, Simone Chaves; MARTINS, Ana Maria
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions.
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Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase
(2011-06) GIUGLIANI, Luciana; SITTA, Angela; VARGAS, Carmen Regla; SILVA, Luiz Carlos Santana da; NALIN, Tatiéle; PEREIRA, Maria Luiza Saraiva; GIUGLIANI, Roberto; SCHWARTZ, Ida Vanessa Doederlein
Objective: To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH). Methods: Interventional study, convenience sampling. The inclusion criteria were: diagnosis of HPA-PAH; age ≥ 7 years; phenylalanine-restricted diet and phenylalanine (Phe) levels ≥ 6 mg/dL in all blood tests 1 year before inclusion. Blood samples were obtained the day before (day 1) and at 0, 4, 8 (day 2) and 24 h (day 3) after BH4 intake. Phe levels were measured using tandem mass spectrometry. The criteria used to define responsiveness to BH4 were: criterion 1- Phe reduction ≥ 30% 8 h after BH4 administration; criterion 2 - Phe reduction ≥ 30% 24 h after BH4 administration. Results: Eighteen patients were enrolled (median age, 14 years; 12 boys). Five patients were responsive to BH4, 3 according to both criteria (one classical PKU, two mild PKU); and two according to criterion 2 (one classical PKU; one indefinite PKU type). There were no differences between Phe serum levels on day 1 and at the other time points (p = 0.523). However, Phe levels on days 1 and 2 were significantly different (p = 0.006). The analysis of the phenotype-genotype association confirmed its multifactorial character. Conclusion: A relevant number of Brazilian patients with HPA-PAH are responsive to BH4, in agreement with other studies in the literature.
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Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
(2010) GIUGLIANI, Roberto; FEDERHEN, Andressa; MUÑOZ ROJAS, Maria Verónica; VIEIRA, Taiane Alves; ARTIGALÁS, Osvaldo Alfonso Pinto; PINTO, Louise Lapagesse de Carmargo; AZEVEDO, Ana Cecília Medeiros Mano; ACOSTA, Angelina Xavier; BOMFIM, Carmem; LOURENÇO, Charles Marques; KIM, Chong Ae; HOROVITZ, Dafne Dain Gandelman; SOUZA, Denize Bomfim; NORATO, Denise Yvonne Janovitz; MARINHO, Diane Ruschel; PALHARES, Durval Batista; SANTOS, Emerson Santana; RIBEIRO, Erlane Marques; VALADARES, Eugênia Ribeiro; GUARANY, Fábio Coelho; LUCCA, Gisele Rosone de; PIMENTEL, Helena; SOUZA, Isabel Cristina Neves de; CORRÊA NETO, Jordão; FRAGA, José Carlos; GÓES, José Eduardo Coutinho; CABRAL, José Maria; SIMIONATO, José; LLERENA JUNIOR, Juan Clinton; JARDIM, Laura Bannach; GIULIANI, Liane de Rosso; SILVA, Luiz Carlos Santana da; SANTOS, Mara Lucia Schmitz Ferreira; MOREIRA, Maria Ângela; KERSTENETZKY, Marcelo Soares; RIBEIRO, Márcia Gonçalves; GUARANY, Nicole Ruas; BARRIOS, Patricia Martins Moura; ARANDA, Paulo Cesar; HONJO, Rachel Sayuri; SILVA, Raquel Tavares Boy da; COSTA, Ronaldo; SOUZA, Carolina Fischinger Moura de; ALCANTARA, Flavio Ferraz de Paes e; AVILLA, Sylvio Gilberto Andrade; FAGONDES, Simone Chaves; MARTINS, Ana Maria
Mucopolysaccharidoses (MPS) are rare genetic diseases caused by deficiency of specific lysosomal enzymes that affect catabolism of glycosaminoglycans (GAG). Accumulation of GAG in various organs and tissues in MPS patients results in a series of signs and symptoms, producing a multisystemic condition affecting bones and joints, the respiratory and cardiovascular systems and many other organs and tissues, including in some cases, cognitive performance. So far, eleven enzyme defects that cause seven different types of MPS have been identified. Before introduction of therapies to restore deficient enzyme activity, treatment of MPS focused primnarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80's treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90's, enzyme replacement therapy (ERT),began to be developed and was approved for clinical use in MPS I, II and VI in the first decade of the 21st century. The authors of this paper are convinced that a better future for patients affected by mucopolysaccharidoses depends upon identifying, understanding and appropriately managing the multisystemic manifestations of these diseases. This includes the provision of support measures (which should be part of regular multidisciplinary care of these patients) and of specific therapies. Although inhibition of synthesis of GAG and the recovery of enzyme activity with small molecules also may play a role in the management of MPS, the breakthrough is the currently available intravenous ERT. ERT radically changed the setting for treatment of mucopolysaccharidosis I, II and VI in the last decade., Benefits can even be extended soon to MPS IV A (ERT for this condition is already in clinical development), with prediction for treatment of MPS III A and the cognitive deficit in MPS II by administration of the enzyme directly into the central nervous system (CNS). A large number of Brazilian services, from all regions of the country, already have experience with ERT for MPS I, II and VI. This experience was gained not only by treating patients but also with the participation of some groups in clinical trials involving ERT for these conditions. Summing up the three types of MPS, more than 250 patients have already been treated with ERT in Brazil. The experience of professionals coupled to the data available in international literature, allowed us to elaborate this document, produced with the goal of bringing together and harmonize the information available for the treatment of these severe and progressive diseases, which, fortunately, are now treatable, a situation which bring new perspectives for Brazilian patients, affected by these conditions.