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Tratamento de erros inatos do metabolismo
Schwartz, Ida Vanessa;Souza, Carolina Fischinger Moura de;Giugliani, Roberto;
Jornal de Pediatria , 2008, DOI: 10.1590/S0021-75572008000500003
Abstract: objective: to describe the current state of treatment for disorders of intermediate metabolism (primarily of amino acids, urea cycle and organic acids) and for diseases related to two subcellular organelles (lysosomes and peroxisomes). sources: in covering the treatment of disorders of intermediate metabolism, priority was given to the most important methods for managing intoxication, in view of the importance for pediatricians to treat acute and life-threatening cases. the article also provides a general overview of the treatment for lysosomal and peroxisomal diseases, with emphasis on enzyme replacement therapy, which is a treatment modality that is growing in use and with which pediatricians should make themselves familiar. summary of the findings: the most important measures used to manage the intoxication present in many inborn errors of intermediate metabolism were presented (restriction of substrate build-up by means of diet or enzymatic inhibition, removal of toxic products, stimulation of residual enzyme activity, replacement of the deficient product). the section on treatment for lysosomal and peroxisomal diseases includes tables providing information on the treatments available. conclusions: treating inborn errors of metabolism is a complex task that should be performed by a multidisciplinary team of which the pediatrician is the key member. this article provides practical information relating to the management of some inborn errors of metabolism and provides pediatricians with a general overview of recent developments in this area of medicine.
Triagem neonatal de distúrbios metabólicos
Souza,Carolina F. Moura de; Schwartz,Ida Vanessa; Giugliani,Roberto;
Ciência & Saúde Coletiva , 2002, DOI: 10.1590/S1413-81232002000100012
Abstract: several metabolic disorders which have early and severe manifestations may have their natural history significantly modified by the introduction of a treatment still on the pre-clinical phase. pre-symptomatic diagnosis is only possible with the performance of screening tests in target populations, like newborns. the effort to perform a neonatal screening test should be done when a metabolic disorder fulfill the following criteria: 1) the disorders bring, if not treated, early and severe consequences to the health of the affected subject; 2) a treatment, which could substantially modify the natural history of the disease, is available; 3) the treatment is significantly more effective when introduced in the pre-clinical phase of the disease; 4) a laboratory test, which should be simple, efficient, low-cost and suitable for application in large scale, is available. with these conditions in mind, neonatal screening programs were initially introduced for phenylketonuria and congenital hypothyroidism, and presently are performed for the detection of a growing number of diseases. these programs are already well-established in developed countries, but their efficient application in developing countries is still a challenge.
Triagem neonatal de distúrbios metabólicos
Souza Carolina F. Moura de,Schwartz Ida Vanessa,Giugliani Roberto
Ciência & Saúde Coletiva , 2002,
Abstract: Diversos distúrbios metabólicos que se manifestam de forma grave e precoce podem ter sua história natural substancialmente alterada pela introdu o de um tratamento em sua fase pré-clínica. O diagnóstico pré-sintomático só é possível com a realiza o de testes de triagem populacional em recém-nascidos. O esfor o para realizar um programa de triagem neonatal deve ser empreendido quando um distúrbio metabólico preenche os seguintes requisitos: 1) o distúrbio traz, se n o tratado, conseqüências graves para a saúde do afetado; 2) existe um tratamento que pode modificar substancialmente a história natural da doen a; 3) o tratamento é significativamente mais eficaz quando implantado na fase pré-clínica da doen a; 4) existe um teste de triagem que seja simples, eficiente, aplicável em larga escala e de baixo custo. Baseados nessas premissas, programas de triagem neonatal foram inicialmente implantados para fenilcetonúria e hipotireoidismo congênito, e hoje est o sendo aplicados para um número crescente de situa es. Esses programas já est o bem-consolidados nos países desenvolvidos, mas é ainda um desafio a sua eficiente aplica o nos países do Terceiro Mundo.
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review
Louise LC Pinto, Taiane A Vieira, Roberto Giugliani, Ida VD Schwartz
Orphanet Journal of Rare Diseases , 2010, DOI: 10.1186/1750-1172-5-14
Abstract: The lysosomal disorders (LD) are a heterogeneous group of approximately 50 disorders [1,2] with prevalence around 1:5,000 to 1:7,000 in live births [3,4]. Among other mechanisms involved in the degradation of macromolecules in lysosomes, the disease may be due to the deficiency of a specific hydrolase, a defect on the post-translational processing of the enzyme, or a transport defect across the lysosomal membrane [2,5]. The deficiency of a single enzyme or protein causes the blockage of an entire pathway making the substrate inaccessible to further hydrolysis by other lysosomal enzymes. It is important to stress that the gene products involved in the LD usually are not cell autonomous, as they could be secreted and uptaken on cells which do not produce them. Furthermore, in most LD more than one compound is accumulated, as in Mucopolysaccharidosis II (MPS II or Hunter syndrome), in which the main storage materials are dermatan sulphate and heparan sulphate; however, other substrates like ganglioside GM2 and GM3 and subunit c of mitochondrial ATP synthase are also accumulated in the brain [6]. The new concepts in cell biology led to the proposal of a new classification of LSD by Platt and Walkley [2] (Table 1).Among the over 300 human X-linked diseases described so far, only three are LD: Fabry disease (MIM 301500), MPSII II (MIM 30900), and Danon disease (MIM 300257). This review will focus on the clinical heterogeneity found among heterozygotes of the two most frequent conditions: Fabry disease and MPS II.Fabry disease is a rare X-linked lysosomal inborn error of glycosphingolipid catabolism which results from the deficient activity of lysosmal hidrolase α galactosidase A (α-GAL; EC The estimated incidence of this rare disease is 1:40,000-117,000 live male births [4,7,8]. This figure, however, may be underestimated, as screening performed in newborn males in a Northwestern Italian region showed an incidence of 1 in ~4,000 males [9]. The α-galactosidase g
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA)
Dieter, Tatiana;Matte, Ursula da Silveira;Schwartz, Ida Vanessa;Tomatsu, Shunji;Giugliani, Roberto;
Genetics and Molecular Biology , 2007, DOI: 10.1590/S1415-47572007000400004
Abstract: morquio a syndrome (mucopolysaccharidosis iva - mps iva, omim# 253000) is an autosomal recessive inborn error of metabolism caused by the deficiency of n-acetylgalactosamine-6-sulfate sulfatase (galns). we investigated five unrelated brazilian mps iva families for mutations in exons 4, 5, 9 and 10 of the galns gene. six out of the 10 mutant alleles were identified. taken together with a previous study, which included six unrelated families, common mutations among brazilian patients were p.n164t, p.g116s and p.g301c. among one hundred control subjects three novel silent mutations were found (p.a107a; gcc ? gct, p.y108y; tac ? tat, p.p357p; ccg ? cca). screening starting with exons 4, 5, 9, 10 and 11 may be a good strategy for genotyping of brazilian patients since these exons include 73% of all mutations identified in the current and previous studies.
Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase
Giugliani, Luciana;Sitta, Angela;Vargas, Carmen R;Santana-da-Silva, Luiz C;Nalin, Tatiéle;Saraiva-Pereira, Maria Luiza;Giugliani, Roberto;Schwartz, Ida Vanessa D;
Jornal de Pediatria , 2011, DOI: 10.2223/JPED.2090
Abstract: 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.
Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avalia??o da mobilidade articular e das for?as de garra e de pin?a
Cardoso-Santos, Antonio;Azevedo, Ana C. M. M.;Fagondes, Simone;Burin, Maira G.;Giugliani, Roberto;Schwartz, Ida V. D.;
Jornal de Pediatria , 2008, DOI: 10.1590/S0021-75572008000200007
Abstract: objective: to describe the profile of joint mobility and grip and pinch strength of mps vi patients and to correlate this with urinary excretion of glycosaminoglycans (gags), arsb activity, and the distance covered in a 6-minute walking test (6mwt). methods: this was an observational study of 28 patients with mps vi, who had not undergone specific treatment. all patients were assessed for amplitude of joint mobility (shoulder, elbow, and knee), grip and pinch strength and urinary gag excretion and also performed the 6mwt. results: shoulder flexion exhibited the greatest limitation, with no correlation with age, followed by knee extension and elbow flexion, both of which were correlated inversely with age. hand grip strength was compromised in all patients, and pinch strength exhibited a positive correlation with age. conclusions: the fact that restricted shoulder flexion was not correlated with age suggests that this finding is present early on in mps vi and that it constitutes an important clinical sign that should arouse diagnostic suspicion of this disease. the amplitude of knee extension and elbow flexion, in turn, are possible markers of disease progression since they have a negative correlation with age. further studies are needed to confirm these hypotheses.
Avalia??o prospectiva de 11 pacientes brasileiros com mucopolissacaridose II
Pinto, Louise L. C.;Schwartz, Ida V. D.;Puga, Ana C. S.;Vieira, Taiane A.;Munoz, Maria Ver?nica R.;Giugliani, Roberto;,;
Jornal de Pediatria , 2006, DOI: 10.1590/S0021-75572006000500008
Abstract: objective: to assess the progression of mucopolysaccharidosis ii in 11 brazilian patients over a 12-month period. methods: eleven brazilian patients with mucopolysaccharidosis ii were prospectively studied at the division of medical genetics of hospital de clínicas de porto alegre. the initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration. results: the major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of cardiac valve lesions; 5) there was no statistically significant difference between the mean distances obtained on the 6-minute walk test; 6) there was splenic enlargement; 7) there was an increase in gamma-glutamyltransferase levels; 8) the urinary concentration of glycosaminoglycans remained unchanged. conclusions: in general, echocardiographic findings were the only variable with deterioration and possible immediate clinical consequences. although a 12-month period is too short to detect changes in most variables related to mucopolysaccharidosis ii, its progressive nature should be taken into account when evaluating the efficiency of treatment protocols.
Mucopolysacccharidoses: from understanding to treatment, a century of discoveries
Giugliani, Roberto;
Genetics and Molecular Biology , 2012, DOI: 10.1590/S1415-47572012000600006
Abstract: after the first description of a patient recognized as a mps case was made in 1917, several similar cases were described and identified. observations reported in the middle of the twentieth century concerning the presence of acid mucopolysaccharides (later called glycosaminoglycans, or gags) in tissues and especially in urine of patients were instrumental in providing an identity for these diseases, which became referred as "mucopolysaccharidoses" (mps). in the late 1960's it was demonstrated that mps were caused by defects in the breakdown of gags, and the specific enzyme deficiencies for the 11 types and subtypes of mps were identified thereafter. genes involved in the mps were subsequently identified, and a large number of disease-causing mutations were identified in each one. although individually rare, mps are relatively frequent as a group, with an overall incidence estimated as 1:22,000. the increased excretion of urinary gags observed in the vast majority of mps patients provides a simple screening method, the diagnosis usually being confirmed by the identification of the specific enzyme deficiency. molecular analysis also plays a role, being helpful for phenotype prediction, prenatal diagnosis and especially for the identification of carriers. as the diseases are rare and diagnosis requires sophisticated methods, the establishment of reference laboratories for mps identification is recommended. the successful experience of the mps brazil network in providing access to information and diagnosis may be considered as an option for developing countries. the development of therapeutic strategies for mps, including bone marrow/hematopoietic stem cell transplantation (bmt/hsct) and enzyme replacement therapy (ert), changed the natural history of many mps types. however, some challenges still remain, including the prevention of cognitive decline which occurs in some mps. newer approaches, such as intratechal ert, substrate reduction therapy, read-through, gene ther
Cholera in the 21st century Cólera no século 21
Camila Giugliani
Revista Brasileira de Medicina de Família e Comunidade , 2010, DOI: 10.5712/rbmfc3(12)367
Abstract: The objective of this article is to report the experience of a cholera outbreak causing more than two thousand deaths in 2006 in Angola. I describe my observations and feelings, as well as some of the interventions performed by the team of the organization Médecins du Monde, aimed at contributing to control the outbreak. This report is a real example of how some populations are still vulnerable to easily preventable diseases Este artigo tem por objetivo contar a vivência de uma epidemia de cólera, que deixou mais de dois mil mortos, no ano de 2006 em Angola. Descrevo as minhas observa es e sentimentos, assim como algumas interven es da equipe da organiza o Médecins du Monde na tentativa de contribuir para o controle da epidemia. O relato desta experiência é um exemplo real de como algumas popula es ainda se encontram vulneráveis a doen as facilmente preveníveis
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