Luiz Carlos Santana da Silva

Dyslipidemia in schoolchildren from private schools in Belém

Métodos: Estudio transversal y prospectivo, en el que se evaluaron a 437 escolares pareados por sexo. El grupo de edad se limitó entre 6 y 19 años, estratificado en 4 subgrupos (6 a 9 años; 10 a 12 años; 13 a 15 años y 16 a 19 años). Para obtenerse las variables antropométricas se midieron el peso y la estatura, para el cálculo del índice de masa corporal; y pliegues cutáneos para el cálculo del porcentaje de grasa. El perfil lipoproteico sérico se obtuvo por medio de dosificación del colesterol total, triglicérido, LDL-colesterol y el HDL-colesterol tras 12 horas de ayuno, determinado por métodos enzimáticos.FUNDAMENTO: Atualmente, a dislipidemia infanto-juvenil associada a outros agravos nao transmissiveis como diabete, hipertensao e obesidade representam um grave problema de saude publica no Brasil. OBJETIVO: Investigar a prevalencia de dislipidemia em criancas e adolescentes da rede particular de ensino na cidade de Belem. METODOS: Estudo transversal e prospectivo, no qual foram avaliados 437 escolares pareados por sexo. A faixa etaria foi delimitada entre 6 a 19 anos, estratificada em quatro subgrupos (6 a 9 anos; 10 a 12 anos; 13 a 15 anos e 16 a 19 anos). Para obtencao das variaveis antropometricas foram mensurados peso e estatura, para o calculo do indice de massa corporal; e pregas cutâneas para o calculo do percentual de gordura. O perfil lipoproteico serico foi obtido atraves da dosagem do colesterol total, triglicerideo, LDL-colesterol e o HDL-colesterol apos 12 horas de jejum, determinado por metodos enzimaticos. RESULTADOS: Do total de escolares analisados 126 (28,8%) apresentaram excesso de peso e 158 (36,2%) indice de adiposidade elevado. As criancas (33,6%) apresentaram maior prevalencia de obesidade quando comparadas com os adolescentes (10,1%) (p<0,001). Em relacao as caracteristicas bioquimicas constatou-se que 214 (49%) apresentaram alguma alteracao no perfil lipidico e que as criancas e os adolescentes da faixa de 10 a 15 anos foram os grupos etarios que apresentaram maiores taxas de dislipidemia (34,6 e 25,5 %), respectivamente. CONCLUSAO: Esses achados demonstram a importância de se diagnosticar precocemente o possivel perfil lipidico, principalmente se este ja apresentar associacao com outro fator de risco como a obesidade.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.

Dislipidemia em escolares na rede privada de Belém

Métodos: Estudio transversal y prospectivo, en el que se evaluaron a 437 escolares pareados por sexo. El grupo de edad se limitó entre 6 y 19 años, estratificado en 4 subgrupos (6 a 9 años; 10 a 12 años; 13 a 15 años y 16 a 19 años). Para obtenerse las variables antropométricas se midieron el peso y la estatura, para el cálculo del índice de masa corporal; y pliegues cutáneos para el cálculo del porcentaje de grasa. El perfil lipoproteico sérico se obtuvo por medio de dosificación del colesterol total, triglicérido, LDL-colesterol y el HDL-colesterol tras 12 horas de ayuno, determinado por métodos enzimáticos.FUNDAMENTO: Atualmente, a dislipidemia infanto-juvenil associada a outros agravos nao transmissiveis como diabete, hipertensao e obesidade representam um grave problema de saude publica no Brasil. OBJETIVO: Investigar a prevalencia de dislipidemia em criancas e adolescentes da rede particular de ensino na cidade de Belem. METODOS: Estudo transversal e prospectivo, no qual foram avaliados 437 escolares pareados por sexo. A faixa etaria foi delimitada entre 6 a 19 anos, estratificada em quatro subgrupos (6 a 9 anos; 10 a 12 anos; 13 a 15 anos e 16 a 19 anos). Para obtencao das variaveis antropometricas foram mensurados peso e estatura, para o calculo do indice de massa corporal; e pregas cutâneas para o calculo do percentual de gordura. O perfil lipoproteico serico foi obtido atraves da dosagem do colesterol total, triglicerideo, LDL-colesterol e o HDL-colesterol apos 12 horas de jejum, determinado por metodos enzimaticos. RESULTADOS: Do total de escolares analisados 126 (28,8%) apresentaram excesso de peso e 158 (36,2%) indice de adiposidade elevado. As criancas (33,6%) apresentaram maior prevalencia de obesidade quando comparadas com os adolescentes (10,1%) (p<0,001). Em relacao as caracteristicas bioquimicas constatou-se que 214 (49%) apresentaram alguma alteracao no perfil lipidico e que as criancas e os adolescentes da faixa de 10 a 15 anos foram os grupos etarios que apresentaram maiores taxas de dislipidemia (34,6 e 25,5 %), respectivamente. CONCLUSAO: Esses achados demonstram a importância de se diagnosticar precocemente o possivel perfil lipidico, principalmente se este ja apresentar associacao com outro fator de risco como a obesidade.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.

Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros

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 primarily on prevention and care of complications, still a very important aspect in the management of these patients. In the 80s treatment of MPS with bone marrow transplantation/hematopoietic stem cells transplantation (BMT/HSCT) was proposed and in the 90s, 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.As mucopolissacaridoses (MPS) sao doencas geneticas raras causadas pela deficiencia de enzimas lisossomicas especificas que afetam o catabolismo de glicosaminoglicanos (GAG). O acumulo de GAG em varios orgaos e tecidos nos pacientes afetados pelas MPS resulta em uma serie de sinais e sintomas, integrantes de um quadro clinico multissistemico que compromete ossos e articulacoes, vias respiratorias, sistema cardiovascular e muitos outros orgaos e tecidos, incluindo, em alguns casos, as funcoes cognitivas. Ja foram identificados 11 defeitos enzimaticos que causam sete tipos diferentes de MPS. Antes do advento de terapias dirigidas para a restauracao da atividade da enzima deficiente, o tratamento das MPS tinha como principal foco a prevencao e o cuidado das complicacoes, aspecto ainda bastante importante no manejo desses pacientes. Na decada de 80 foi proposto o tratamento das MPS com transplante de medula ossea/transplante de celulas tronco hematopoieticas (TMO/TCTH) e na decada de 90 comecou o desenvolvimento da Terapia de Reposicao Enzimatica (TRE), que se tornou uma realidade aprovada para uso clinico nas MPS I, II e VI na primeira decada do seculo 21. Os autores deste trabalho tem a conviccao de que um melhor futuro para os pacientes afetados pelas MPS depende da identificacao, compreensao e manejo adequado das manifestacoes multissistemicas dessas doencas, incluindo medidas de suporte (que devem fazer parte da assistencia multidisciplinar regular destes pacientes) e terapias especificas. Embora a inibicao da sintese de GAG e o resgate da atividade enzimatica com moleculas pequenas tambem possam vir a ter um papel no manejo das MPS, o grande avanco disponivel no momento e a TRE intravenosa. A TRE permitiu modificar radicalmente o panorama do tratamento das mucopolissacaridoses I, II e VI na ultima decada, sendo que ainda pode estender seus beneficios em breve para a MPS IV A (cuja TRE ja esta em desenvolvimento clinico), com perspectivas para o tratamento da MPS III A e do deficit cognitivo na MPS II atraves de administracao da enzima diretamente no sistema nervoso central (SNC). Um grande numero de centros brasileiros, incluindo servicos de todas as regioes do pais, ja tem experiencia com TRE para MPS I, II e VI. Essa experiencia foi adquirida nao so com o tratamento de pacientes como tambem com a participacao de alguns grupos em ensaios clinicos envolvendo TRE para essas condicoes. Somados os tres tipos de MPS, mais de 250 pacientes ja foram tratados com TRE em nosso pais. A experiencia dos profissionais brasileiros, somada aos dados disponiveis na literatura internacional, permitiu elaborar este documento, produzido com o objetivo de reunir e harmonizar as informacoes disponiveis sobre o tratamento destas doencas graves e progressivas, mas que, felizmente, sao hoje trataveis, uma realidade que traz novas perspectivas para os pacientes brasileiros afetados por essas condicoes.

Fatores de risco cardiovascular e fatores associados em escolares do Município de Belém, Pará, Brasil

Este estudio transversal tuvo por objetivo identificar los factores de riesgo para enfermedades cardiovasculares en una muestra de 557 escolares (6-19 anos) de Belem, Para, Brasil, estratificada y por conglomerados. Los factores de riesgo investigados fueron: la obesidad, la hipertension, la dislipidemia, la diabetes, el tabaquismo, la inactividad fisica y dieta aterogenica. Las variables sociodemograficas y relacionadas con el estilo de vida se probaron con el modelo de regresion logistica binaria. Los factores de riesgo mas prevalentes fueron: sobrepeso (20,4%), dislipidemia (48,1%) e inactividad fisica (66,2%). Se descubrio que los estudiantes menores de 10 anos, provenientes de familias con mayores ingresos y mayor educacion de la madre eran mas propensos a desarrollar sobrepeso y son mas propensos a desarrollar hipercolesterolemia y hipertrigliceredemia. En este contexto, es necesario, incluso en la infancia, la implementacion de estrategias para controlar el exceso de peso mediante una dieta equilibrada y ejercicio fisico regular, puesto que puede reducir eficazmente la prevalencia de factores de riesgo en escolares de esta ciudad.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.

Effects of psyllium on LDL-cholesterol concentrations in Brazilian children and adolescents: a randomised, placebo-controlled, parallel clinical trial

The present study investigated the LDL-cholesterol (LDL-C)-lowering effects of psyllium in Brazilian dyslipidaemic children and adolescents. A total of fifty-one individuals (6-19 years) with mild-to-moderate hypercholesterolaemia were evaluated by conducting a randomised, double-blind, placebo-controlled, parallel clinical trial. Over an 8-week trial period, the participants were randomly allocated to one of two groups (control: n 25 and psyllium: n 26) using a computer-generated random number sequence. Fasting blood samples, dietary records and anthropometric data were collected. Both groups were treated with the National Cholesterol Education Program Step 2 diet for 6 weeks before randomisation. After this run-in period, a daily supplement of 7·0 g psyllium was given to the intervention group, while an equivalent amount of cellulose was given to the control group. Statistically significant changes between the control and intervention groups over time were observed for total cholesterol (7·7%; - 0·39 mmol/l; P= 0·003) and LDL-C (10·7%; - 0·36 mmol/l; P= 0·01). None of the participants reported any aversion to the smell, taste, appearance or texture of psyllium. No serious adverse effects were reported during the study. In addition to causing a significant reduction in LDL-C concentrations, psyllium therapy was found to be both safe and acceptable for the treatment of hypercholesterolaemic children and adolescents.

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region

UNLABELLED 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.

Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy

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.

[Cardiovascular risk and associated factors in schoolchildren in Belém, Pará State, Brazil].

Este estudio transversal tuvo por objetivo identificar los factores de riesgo para enfermedades cardiovasculares en una muestra de 557 escolares (6-19 anos) de Belem, Para, Brasil, estratificada y por conglomerados. Los factores de riesgo investigados fueron: la obesidad, la hipertension, la dislipidemia, la diabetes, el tabaquismo, la inactividad fisica y dieta aterogenica. Las variables sociodemograficas y relacionadas con el estilo de vida se probaron con el modelo de regresion logistica binaria. Los factores de riesgo mas prevalentes fueron: sobrepeso (20,4%), dislipidemia (48,1%) e inactividad fisica (66,2%). Se descubrio que los estudiantes menores de 10 anos, provenientes de familias con mayores ingresos y mayor educacion de la madre eran mas propensos a desarrollar sobrepeso y son mas propensos a desarrollar hipercolesterolemia y hipertrigliceredemia. En este contexto, es necesario, incluso en la infancia, la implementacion de estrategias para controlar el exceso de peso mediante una dieta equilibrada y ejercicio fisico regular, puesto que puede reducir eficazmente la prevalencia de factores de riesgo en escolares de esta ciudad.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.

Dislipidemia en escolares del sistema de educación privada de la ciudad de Belém

Métodos: Estudio transversal y prospectivo, en el que se evaluaron a 437 escolares pareados por sexo. El grupo de edad se limitó entre 6 y 19 años, estratificado en 4 subgrupos (6 a 9 años; 10 a 12 años; 13 a 15 años y 16 a 19 años). Para obtenerse las variables antropométricas se midieron el peso y la estatura, para el cálculo del índice de masa corporal; y pliegues cutáneos para el cálculo del porcentaje de grasa. El perfil lipoproteico sérico se obtuvo por medio de dosificación del colesterol total, triglicérido, LDL-colesterol y el HDL-colesterol tras 12 horas de ayuno, determinado por métodos enzimáticos.FUNDAMENTO: Atualmente, a dislipidemia infanto-juvenil associada a outros agravos nao transmissiveis como diabete, hipertensao e obesidade representam um grave problema de saude publica no Brasil. OBJETIVO: Investigar a prevalencia de dislipidemia em criancas e adolescentes da rede particular de ensino na cidade de Belem. METODOS: Estudo transversal e prospectivo, no qual foram avaliados 437 escolares pareados por sexo. A faixa etaria foi delimitada entre 6 a 19 anos, estratificada em quatro subgrupos (6 a 9 anos; 10 a 12 anos; 13 a 15 anos e 16 a 19 anos). Para obtencao das variaveis antropometricas foram mensurados peso e estatura, para o calculo do indice de massa corporal; e pregas cutâneas para o calculo do percentual de gordura. O perfil lipoproteico serico foi obtido atraves da dosagem do colesterol total, triglicerideo, LDL-colesterol e o HDL-colesterol apos 12 horas de jejum, determinado por metodos enzimaticos. RESULTADOS: Do total de escolares analisados 126 (28,8%) apresentaram excesso de peso e 158 (36,2%) indice de adiposidade elevado. As criancas (33,6%) apresentaram maior prevalencia de obesidade quando comparadas com os adolescentes (10,1%) (p<0,001). Em relacao as caracteristicas bioquimicas constatou-se que 214 (49%) apresentaram alguma alteracao no perfil lipidico e que as criancas e os adolescentes da faixa de 10 a 15 anos foram os grupos etarios que apresentaram maiores taxas de dislipidemia (34,6 e 25,5 %), respectivamente. CONCLUSAO: Esses achados demonstram a importância de se diagnosticar precocemente o possivel perfil lipidico, principalmente se este ja apresentar associacao com outro fator de risco como a obesidade.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.

Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report: MUCOPOLYSACCHARIDOSIS VI AND EFFECTS ON GROWTH OF THE APICAL BASES

OBJECTIVE Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age. STUDY DESIGN Skull lateral teleradiography and cephalometric tracings were performed. The measurements were assessed in the anteroposterior and vertical directions based on protocols by McNamara and Usp/Unicamp and compared to the normal reported ranges. RESULTS A similar skeletal class III malocclusion was observed in both patients. The jaw was retruded, the anterior skull base decreased, and the mandibular body was normal or larger than normal. The vertical growth direction differed between the patients; one was hyperdivergent, while the other was hypodivergent. CONCLUSIONS By understanding the craniofacial growth changes in MPS VI patients, new treatment options may be developed for affected patients.