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1.
J. appl. oral sci ; 29: e20200978, 2021. tab, graf
Article in English | LILACS | ID: biblio-1286913

ABSTRACT

Abstract Mucopolysaccharidosis (MPS) is a group of rare and inherited metabolic disorders caused by the accumulation of macromolecule glycosaminoglycans inside lysosomes. Affected individuals may have dental and craniofacial tissue alterations, facilitating the development of several oral diseases. Objectives To assess, with panoramic radiographic images, the frequency of dental and maxillomandibular incidental findings among MPS individuals and compare them with non-MPS individuals. Methodology A cross-sectional study evaluating a sample of 14 MPS individuals and 28 non-MPS individuals aged from 5 to 26 years was carried out. They were matched for sex and age on a 2:1 proportion. Panoramic radiographs were assessed for the presence/absence of the following dental and maxillomandibular alterations: dental anomalies of number (hypodontia/dental agenesis, supernumerary teeth); anomalies of form (microdontia, macrodontia, conoid teeth, taurodontism, and root dilaceration); anomalies of position (impacted tooth, inverted tooth, tooth migration, partially bony teeth, complete bony teeth); periapical alterations (furcation lesion, circumscribed bone rarefaction); other alterations (radiolucent bone lesions, radiopaque bone lesions, radiopacity in the maxillary sinus, condylar hypoplasia). Differences between groups were tested by the Fisher's exact test and chi-square test (p<0.05). Results For intrarater agreement, Kappa values were 0.76 to 0.85. The presence of supernumerary teeth (p=0.003); conoid teeth (p=0.009); taurodontism (p<0.001); impacted teeth (p<0.001); partial bony teeth (p=0.040); complete bony teeth (p=0.013); and root dilaceration (p=0.047) were statistically more frequent in MPS individuals compared to non-MPS individuals. Bone rarefaction/furcation lesions (p=0.032), condylar hypoplasia (p<0.001), radiolucent bone lesions (p=0.001), and dentigerous cysts (p=0.002) were also more frequent in MPS individuals. Conclusion The presence of specific oral manifestations is more common in MPS individuals than non-MPS individuals.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Adult , Young Adult , Tooth Abnormalities/diagnostic imaging , Tooth, Supernumerary , Mucopolysaccharidoses/diagnostic imaging , Radiography, Panoramic , Cross-Sectional Studies , Incidental Findings
2.
Braz. oral res. (Online) ; 34: e109, 2020. tab, graf
Article in English | LILACS, BBO | ID: biblio-1132694

ABSTRACT

Abstract The purpose of the present study was to compare the perceptions of the parents/ caregivers of young people with and without Mucopolysaccharidosis (MPS) with regards to their oral health-related quality of life (OHRQoL). A cross-sectional study was conducted with 29 individuals with MPS and 29 normotypic individuals aged three to 21 years and their parents/caregivers. All parents/caregivers of young people with MPS in follow-up at two reference hospitals in the city of Belo Horizonte, southeastern Brazil, were invited to participate in the study. Individuals without MPS were recruited from the pediatric clinics of both hospitals. Parents/caregivers answered a structured questionnaire addressing the sociodemographic characteristics, behavioral habits and medical and dental history of the children as well as the Brazilian short-form version of the Parental-Caregiver (P-CPQ). The individuals with and without MPS were examined for malocclusion, dental caries and oral hygiene by an examiner who had undergone training and calibration exercises. Mean age of the subjects was 12.1 years (± 4.2). Comparing total P-CPQ scores and scores on the oral symptoms, functional limitations and wellbeing domains, the parents/caregivers individuos with MPS reported a statistically significant greater negative impact on OS domain than their counterparts. Regarding the clinical variables, malocclusion was also associated a greater negative impact on OHRQoL of young people with MPS when compared to those of young people without MPS. Our findings show the great negative impact caused by the malocclusion of young people with MPS.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Adult , Young Adult , Mucopolysaccharidoses , Parents , Quality of Life , Brazil , Oral Health , Cross-Sectional Studies , Surveys and Questionnaires , Dental Caries , Malocclusion
3.
Belo Horizonte; s.n; 2020. 102 p. ilus, tab.
Thesis in Portuguese | LILACS, BBO | ID: biblio-1151429

ABSTRACT

As doenças genéticas raras são consideradas eventos patológicos de origem genética de baixa ocorrência e com ampla diversidade de sinais e sintomas. Geralmente, indivíduos acometidos com doenças raras apresentam alterações musculares, esqueléticas e do sistema nervoso central. Muitas manifestações orofaciais são comuns nessa parcela da população, que, na grande maioria das vezes, apresenta dificuldade de acesso ao tratamento odontológico adequado. O conceito de integralidade do cuidado é amplamente discutido tanto nas práticas na área da saúde, quanto nas discussões relacionadas à compreensão do ser humano, de sua condição integral e não parcial. Este estudo objetivou identificar fatores associados ao acesso ao serviço de saúde bucal para indivíduos com doença genética rara e sem doença genética rara. Foi realizado um estudo transversal, pareado por sexo e idade, com 140 indivíduos [70 com doença genética rara - Mucopolissacaridoses (n=29) / Osteogênese Imperfeita (n=41) - e 70 sem doença genética rara] e os pais/responsáveis. A amostra foi selecionada em dois hospitais referência para pacientes com doenças raras em Minas Gerais, sudeste do Brasil. Os pais/responsáveis responderam um questionário sobre aspectos individuais (sexo, idade, cor da pele e escolaridade dos pais/responsáveis) e história médica e odontológica do filho (infecções respiratórias, uso rotineiro de medicamentos, acesso ao serviço de saúde bucal). O tipo de doença rara (MPS ou OI) foi confirmado pelo prontuário médico do paciente. O acesso ao serviço de saúde bucal foi analisado por meio da questão "Seu filho já foi ao dentista?" Os participantes com doença rara e sem doença rara foram examinados quanto à cárie dentária, má oclusão, anomalias dentárias e higiene bucal. Foi construído um modelo teórico por meio de Directed Acyclic Graph (DAG) para identificar possíveis variáveis de confusão na associação entre doenças raras e acesso ao serviço de saúde bucal. O estudo foi aprovado pelo Comitê de Ética em Pesquisa da Universidade Federal de Minas Gerais. Foram realizadas análises de regressão logística condicional não-ajustada e ajustada (p<0,05). A faixa etária dos indivíduos examinados foi de três a 27 anos, com média de idade de 10,3 anos (±6,5). A chance de o indivíduo sem doença genética rara ter acesso ao serviço de saúde bucal foi 5,32 vezes maior (IC95%: 2,35-12,01). Indivíduos sem episódios de infecções das vias aéreas superiores (menos de seis meses) apresentaram 3,16 vezes maior chance de terem acesso ao serviço de saúde bucal (IC95%: 1,45-6,90). Concluiu-se que indivíduos sem doença rara e sem história de infecções das vias aéreas superiores (menos de seis meses) apresentaram maior chance de pertencerem ao grupo de indivíduos com acesso ao serviço de saúde bucal


Rare genetic diseases are considered pathological events of low-occurrence genetic origin and with wide diversity of signs and symptoms. Generally, individuals affected with rare diseases present muscle, skeletal and central nervous system alterations. Many orofacial manifestations are common in this part of the population, that in the vast majority of time it has difficulty accessing adequate dental treatment. The concept of comprehensive care is widely discussed both in health practices, then discussions related to the understanding of the human being, of his integral and non-partial condition. This study aimed to identify factors associated with access to oral health service for individuals with rare genetic disease and without rare genetic disease. A cross-sectional study was conducted, matched by sex and age, with 140 individuals [70 with rare genetic disease - Mucopolysaccharidosis (n=29) / Osteogenesis Imperfect (n=41) - and 70 without rare genetic disease] and parents/guardians. The sample was selected in two reference hospitals for patients with rare diseases in Minas Gerais, southeastern Brazil. Parents/guardians answered a questionnaire about individual aspects and medical and dental history of the child. Participants with rare disease and without rare disease were examined for dental caries, malocclusion, dental anomalies and oral hygiene. The theoretical model of the Directed Acyclic Graphs (DAG) was used to identify possible confounding variables in the association between rare diseases and access to oral health service. The study was approved by the Research Ethics Committee of Federal University of Minas Gerais. Unadjusted and adjusted conditional logistic regression analyzes were performed (p<0.05). The age group of the individuals examined was three to 27 years, with a mean age of 10.3 years (±6.5). The chance of the individual without rare genetic disease belonging to the group with access to oral health service was 5.32 times higher (IC95%: 2.35-12.01). Individuals without episodes of upper airway infections (less than six months) were 3.16 times more likely to be in the group with access to oral health service (IC95%: 1.45-6.90). It was concluded that individuals without rare disease and without history of upper airway infections (< 6 months) were more likely to belong to the group of individuals with access to oral health services.


Subject(s)
Osteogenesis Imperfecta , Dental Care , Mucopolysaccharidoses , Dental Care for Disabled , Rare Diseases , Health Services , Health Services Accessibility , Cross-Sectional Studies
4.
Medisan ; 23(4)jul.-ago. 2019. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1091108

ABSTRACT

Introducción: Las mucopolisacaridosis son causadas por la deficiencia de las actividades de las enzimas lisosomales necesarias para degradar los glicosaminoglicanos. Estos síndromes comparten muchas características clínicas aunque en grados variables. Las manifestaciones clínicas implican múltiples sistemas de órganos y algunas tienen terapia de reemplazo enzimático. En muchas investigaciones se hace alusión a la presencia de estrés oxidativo en quienes la padecen, pero esta condición aún no se ha estudiado en los pacientes cubanos. Objetivo: Evaluar parámetros de estrés oxidativo en pacientes cubanos con mucopolisacaridosis. Métodos: Se realizó un estudio de casos y controles que incluyó a 7 niños con mucopolisacaridosis de tipos I, II, III y IV (casos) y a 21 aparentemente sanos, pareados en edad y sexo (controles). Se midieron los niveles plasmáticos de malonildialdehído, productos avanzados de oxidación de proteínas, grupos tiol libres y marcadores de química sanguínea. Se cuantificaron las actividades intraeritrocíticas de superóxido dismutasa, catalasa y de glutatión peroxidasa. Todas las técnicas utilizadas fueron espectrofotométricas. Resultados: Los pacientes mostraron un aumento tanto en los niveles de calcio como en la oxidación de lípidos y proteínas, en comparación con los controles y los valores de referencia de Cuba. Hubo una disminución en la actividad de la enzima superóxido dismutasa y las concentraciones de grupos tioles. No se encontraron diferencias para el resto de los parámetros medidos. Conclusiones: El aumento del daño oxidativo y la disminución de la capacidad antioxidante sugieren la presencia de estrés oxidativo en esos pacientes cubanos.


Introduction: Mucopolysaccharidosis are caused by the deficiency in lysosomal enzyme activities necessary to degrade the glycosaminoglycans. These syndromes share many clinical characteristics although in variable degrees. Clinical manifestations imply multiple organs systems and some have enzyme replacement treatment. Many investigations deal on the presence of oxidative stress in those who suffer it, but this condition has not still been studied in Cuban patients. Objective: To evaluate parameters of oxidative stress in Cuban patients with mucopolysaccharidosis. Methods: A cases and controls study which included 7 children with mucopolysaccharidosis types I, II, III and IV (cases) and 21 apparently healthy children, paired by age and sex (control group) was carried out. The plasmatic levels of malondialdehide, advanced products of proteins oxidation, free thiol groups and blood chemistry markers were measured. The intraerythrocytic activities of superoxide dismutase, catalase and that of glutathione peroxidase were quantified. All the used techniques were spectrophotometrical. Results: The patients showed an increase, both in the calcium levels as in the oxidation of proteins and lipids, in comparison with the control group and the Cuban values reference. There was a decrease in the activity of the enzyme superoxide dismutase and the concentrations of thiols groups. There were no differences for the rest of the measured parameters. Conclusions: The increase of the oxidative damage and the decrease of the anti-oxidant capacity suggest the presence of oxidative stress in those Cuban patients.


Subject(s)
Mucopolysaccharidoses , Oxidative Stress , Glycosaminoglycans , Child
5.
J. pediatr. (Rio J.) ; 95(4): 475-481, July-Aug. 2019. tab, graf
Article in English | LILACS | ID: biblio-1040340

ABSTRACT

Abstract Objective: Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common feature. Cardiac signs and symptoms are underestimated due to the disease involvement in other organs. Enzyme replacement therapy can be used in mucopolysaccharidosis I, II, IV, and VI. Thus, the knowledge about the use of new echocardiography tools is relevant to improve the care of this population. This study aimed to describe left ventricular function assessment by conventional echocardiography and left ventricular global longitudinal strain analysis and compare the alterations in patients receiving enzyme replacement therapy and who had different ages at the start of therapy. Method: Outpatient-based descriptive study. The patients were submitted to conventional echocardiography and left ventricular global longitudinal strain measurement. Results: Sixteen patients were evaluated; median age of 14.2 years (SD = 5.2 years). Left ventricular hypertrophy was found in nine patients (56.2%). All patients had preserved left ventricular systolic function (Simpson and Teichholz). Nine (56.2%) patients showed alterations in left ventricular global longitudinal strain. The study showed a positive association between left ventricular hypertrophy and alteration in the left ventricular global longitudinal strain, and late start of enzyme replacement therapy and alteration in the left ventricular global longitudinal strain. Conclusion: Echocardiographic alterations in patients with mucopolysaccharidosis were frequently observed, especially alterations in the left ventricular geometry and subclinical dysfunction. Patients who had a late enzyme replacement therapy start showed an association with worse left ventricular global longitudinal strain values, reinforcing the need for early diagnosis and treatment. The use of new echocardiographic tools may improve the follow-up of these patients.


Resumo Objetivo: A mucopolissacaridose é uma doença genética rara, caracterizada por depósito intralisossômico de glicosaminoglicanos. O comprometimento cardiovascular é frequente. Sinais e sintomas cardíacos são subestimados pelo envolvimento da doença em outros órgãos. A terapia de reposição enzimática pode ser usada em mucopolissacaridose I, II, IV e VI. Assim, o conhecimento da aplicação de novas ferramentas de ecocardiografia é relevante para melhorar a assistência dessa população. Este estudo visou descrever a função do ventrículo esquerdo pelo ecocardiograma convencional e pela análise do strain global longitudinal do ventrículo esquerdo e comparar as alterações em pacientes que fazem uso da terapia de reposição enzimática e que tiveram idades distintas de início da terapia. Método: Estudo descritivo de base ambulatorial. Os pacientes foram submetidos à ecocardiografia convencional e medida do strain global longitudinal do ventrículo esquerdo. Resultados: Foram avaliados 16 pacientes; mediana de 14,2 anos (desvio: 5,2 anos). Hipertrofia do ventrículo esquerdo foi encontrada em nove pacientes (56,2%). Todos os pacientes tiveram função sistólica do ventrículo esquerdo preservada (Simpson e Teichholz). Nove (56,2%) pacientes apresentaram alteração no strain global longitudinal do ventrículo esquerdo. O estudo mostrou associação positiva entre hipertrofia do ventrículo esquerdo e alteração no strain global longitudinal do ventrículo esquerdo e início tardio da terapia de reposição enzimática e alteração no strain global longitudinal do ventrículo esquerdo. Conclusão: Alterações ecocardiográficas em pacientes com mucopolissacaridose foram frequentes, especialmente alterações na geometria e disfunção subclínica do ventrículo esquerdo. Pacientes que iniciaram tardiamente a terapia de reposição enzimática apresentaram associação com piores valores de strain global longitudinal do ventrículo esquerdo, o que reforça a necessidade do diagnóstico e tratamento precoces. O uso de novas ferramentas de ecocardiografia pode melhorar o acompanhamento desses pacientes.


Subject(s)
Humans , Male , Female , Child , Adolescent , Mucopolysaccharidoses/complications , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/diagnostic imaging , Myocardium/pathology , Echocardiography/methods , Cross-Sectional Studies , Mucopolysaccharidoses/drug therapy , Ventricular Dysfunction, Left/physiopathology , Ventricular Dysfunction, Left/drug therapy , Enzyme Replacement Therapy
6.
Article in English | WPRIM | ID: wpr-741999

ABSTRACT

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder caused by a deficiency in enzymes that participate in the degradation of glycosaminoglycans (GAGs) such as heparin sulfate and dermatan sulfate. Left untreated, patients show progressive mental and physical deterioration due to deposition of GAGs in organs. Death often occurs due to cardiac or respiratory failure before patients reach their early twenties. MPS has several oral and dental manifestations. An enlarged head, short neck, and open mouth associated with a large tongue are major characteristics of MPS patients. Dental complications can be severe, including unerupted dentition, dentigerous cyst-like follicles, malocclusions, condylar defects, and gingival hyperplasia. A 21-year-old female patient with MPS was described in this article, with special emphasis on oral manifestations and dental treatment.


Subject(s)
Dental Pulp Cavity , Dentition , Dermatan Sulfate , Female , Gingival Hyperplasia , Glycosaminoglycans , Head , Heparin , Humans , Malocclusion , Mouth , Mucopolysaccharidoses , Neck , Oral Manifestations , Respiratory Insufficiency , Root Canal Therapy , Tongue , Young Adult
7.
Article in English | WPRIM | ID: wpr-785637

ABSTRACT

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea


Subject(s)
Age of Onset , Blastomeres , Dermatan Sulfate , Diagnosis , Embryonic Structures , Female , Heparitin Sulfate , Humans , Korea , Lysosomal Storage Diseases , Lysosomes , Male , Mucopolysaccharidoses , Mucopolysaccharidosis II , Multiplex Polymerase Chain Reaction , Parturition , Phenotype , Polymerase Chain Reaction , Preimplantation Diagnosis , Prostaglandins D
8.
Article in Korean | WPRIM | ID: wpr-770080

ABSTRACT

Carpal tunnel syndrome is rare in children. When it does occur in children, the most common causes reported are mucopolysaccharidosis and mucolipidosis. The median artery is a transitory vessel that develops from the axillary artery in early embryonic life and does not normally survive until postfetal life. In a small percentage of individuals, however, it persists into adulthood and is frequently accompanied by a bifid median nerve. A persistent median artery can be a cause of carpal tunnel syndrome in adults, but it is extremely rare in children and adolescents. This paper reports a case of a carpal tunnel syndrome caused by a persistent median artery and bifid median nerve in a 13-year-old girl.


Subject(s)
Adolescent , Adult , Arteries , Axillary Artery , Carpal Tunnel Syndrome , Child , Female , Humans , Median Nerve , Mucolipidoses , Mucopolysaccharidoses
9.
Nutrire Rev. Soc. Bras. Aliment. Nutr ; 43: 1-7, Mar. 2018. tab, graf
Article in English | LILACS | ID: biblio-881550

ABSTRACT

Background: Mucopoly saccharidosis (MPS) are inborn errors of metabolism (IEM) recognized by deficient enzymes enrolled in glycosaminoglycans catabolism. The resulting accumulation of glycosaminoglycans leads to clinical progressive and generalized manifestations. Considering the severity of MPS and the relevance of establishing dietetic strategies to these patients, the present study was tailored to evaluate the food intake in patients with MPS types I, II, and VI. Methods: Food intake in patients with MPS I, II, and VI was assessed. A descriptive cross-sectional study was conducted. Energetic demand based on estimated necessity of energy equations and reported food intake was analyzed. Total energetic value and nutrients (vitamins B1, B2, C, calcium, iron, and phosphate) were analyzed inaccordance with the standardized interval for macronutrient distribution and the method of apparent adequacy for nutrient intake. Results: Food intake of 17 patients (6- to 30-year-olds) was considered adequate regarding macronutrients. Children and adolescents failed in presenting this parameter. Macronutrients were satisfactory in both groups. Children and adolescents displayed increased intake of iron and vitamins B1 (p< 0.05), B2, B3, and C (p< 0.077)and probability of adequacy≥50%. Calcium and phosphorus intake was greater in adults. Conclusions: The results obtained demonstrated that patients with MPS have nutrition deficiency in their diet, which may directly or indirectly influence the course of the disease.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Feeding Behavior , Mucopolysaccharidoses/diet therapy , Nutritional Status
10.
Clinics ; 73: e523, 2018. tab, graf
Article in English | LILACS | ID: biblio-974936

ABSTRACT

OBJECTIVES: To characterize the audiometric evaluation and acoustic immittance measures in different types of mucopolysaccharidosis. METHOD: Fifty-three mucopolysaccharidosis patients were evaluated. The classification consisted of type I (Hurler syndrome, Hurler-Scheie and Scheie syndrome), type II (Hunter syndrome), type III (Sanfilippo syndrome), type IV (Morquio syndrome), and type VI (Maroteaux-Lamy syndrome). Immittance audiometry and play or conventional threshold tone audiometry were used to obtain auditory thresholds and were chosen according to the patient's chronological age and ability to understand/respond to the procedure. The findings were analyzed using descriptive statistics and considering the recommendations for research involving human beings contained in Resolution CNE N° 466/2012. RESULTS: Fifty-one subjects (96.2%) had hearing loss, and the conductive type was the most frequent. Only two (3.8%) patients presented bilateral thresholds within normal limits, one with type IV mucopolysaccharidosis and the other with type VI. There were 11 individuals (20.8%) with mucopolysaccharidosis type I with mixed hearing loss, 9 (16.9%) individuals with type I with conductive hearing loss and 9 (16.9%) with type VI with conductive hearing loss. Mild hearing loss was most common (37.3%), followed by moderately severe hearing loss (36.3%). The type B tympanometric curve (80.4%) was the most frequent. CONCLUSIONS: Most of the individuals with mucopolysaccharidosis types I, II, III, IV and VI presented mixed or conductive hearing losses of mild to moderately severe degree, type B tympanograms and an absence of contralateral acoustic reflexes.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Young Adult , Auditory Threshold/physiology , Mucopolysaccharidoses/complications , Hearing Loss/etiology , Audiometry, Pure-Tone , Severity of Illness Index , Cross-Sectional Studies , Mucopolysaccharidoses/classification , Mucopolysaccharidoses/physiopathology , Hearing Loss/diagnosis , Hearing Loss/physiopathology
11.
Belo Horizonte; s.n; 2018. 111 p. ilus, graf, tab.
Thesis in English, Portuguese | LILACS, BBO | ID: biblio-1016821

ABSTRACT

As mucopolissacaridoses (MPS) representam um grupo de doenças genéticas metabólicas causadas por uma inadequação enzimática nos lisossomos do organismo relacionada aos erros inatos do metabolismo. Acarreta diversas alterações físicas, motoras e intelectuais. Dentre as alterações físicas, muitas estão presentes na face e na cavidade bucal. Na área odontológica são poucos os estudos relacionados às MPS. Ainda são insuficientes as informações sobre as características oclusofaciais presentes nos indivíduos diagnosticados com a anomalia e o impacto que essas características podem provocar na qualidade de vida dessa parcela da população. Este estudo objetivou comparar a percepção dos pais/responsáveis de indivíduos com MPS e sem MPS sobre a qualidade de vida relacionada à saúde bucal (QVRSB) desses indivíduos. Foi desenvolvido um estudo transversal, pareado, com 29 indivíduos com MPS e 29 sem MPS, na faixa etária de 3 a 21 anos, e os pais/responsáveis. Foram convidados a participar da pesquisa todos os pais/responsáveis por indivíduos diagnosticados com MPS atendidos pelo Ambulatório de Erros Inatos do Metabolismo do Hospital das Clínicas da Universidade Federal de Minas Gerais (UFMG) e pelo Hospital João Paulo II, ambos localizados em Belo Horizonte, região sudeste do Brasil. Os indivíduos sem MPS foram selecionados no setor de pediatria e de adolescente de ambos os hospitais. Aqueles pais/responsáveis que concordaram em participar assinaram o termos de consentimento livre e esclarecido. Este estudo foi aprovado pelo Comitê de Ética em Pesquisa da UFMG. A coleta de dados foi realizada em uma das clínicas da Faculdade de Odontologia da UFMG. Os pais/responsáveis respoderam um questionário estruturado abordando questões relacionadas ao tema do estudo e a versão brasileira curta do Parental-Caregiver Perceptions Questionnaire (P-CPQ), que mensura a QVRSB dos filhos na pespectiva dos pais. Em seguida a pesquisadora realizou o exame clínico dos indivíduos com MPS e sem MPS e investigou as seguintes condições: má oclusão, cárie dentária e higiene bucal. A examinadora foi previamente calibrada, sendo obtidos valores kappa entre 0,76 e 0,98. O estudo principal foi conduzido após a fase de calibração e estudo piloto. Os dados foram analisados por meio do software Statistical Package for Social Science - SPSS® (versão 21.0). Foi realizada a análise univariada e bivariada dos dados (p<0,05). Os resultados foram apresentados por meio de artigo científico. A média de idade dos indivíduos examinados foi de 12,1 anos (± 4,2). A faixa etária dos pais/responsáveis variou de 23 a 59 anos, com média de 40,9 anos (± 9,0). Comparando os resultados dos domínios "sintomas orais", "limitação funcional" e "bem estar", assim como o escore total do instrumento, houve uma associação estatisticamente significativa da percepção dos pais em relação ao impacto negativo das condições bucais na QVRSB de indivíduos com MPS (p<0,005). A prevalência de má oclusão dos indivíduos com MPS foi estatisticamente associada com os domínios "sintomas orais", "limitação funcional", "bem-estar e com o "escore total do instrumento" P-CPQ (p<0,05). Concluiu-se que indivíduos com MPS apresentaram um impacto negativo maior na QVRSB quando comparados aos indivíduos sem MPS. A presença de má oclusão apresentou maior impacto sobre a QVRSB dos indivíduos com MPS sob a perspectiva dos pais


Mucopolysaccharidosis (MPS) is a group of genetic metabolic diseases caused by an enzymatic inadequacy in lysosomes of the organism related to inborn errors of metabolism. It involves various physical, motor and intellectual abnormalities. Among the physical alterations, many are present in the face and in the oral cavity. There are few studies in the area of dentistry dedicated to MPS, and information regarding the oral characteristics present in those diagnosed with the disease and the impact that these characteristics can have on the oral health related quality of life of such of such individuals remains insufficient. This study aimed to compare the perception of the parents / caregivers of individuals with MPS and without MPS regarding the oral health related quality of life (OHRQoL) of of these individuals. A paired cross-sectional study was performed of 29 individuals with MPS and 29 without MPS, age from 3 to 21 years, and the parents/ caregivers. All the parents / caregivers of individuals with MPS attended by two reference hospitals in MPS care in Belo Horizonte, southeastern of Brazil, were invited to participate in the study. Individuals without MPS were selected at the pediatric and adolescent clinic of both hospitals. Data collection was carried out in one of the clinics of the Faculty of Dentistry of Federal University of Minas Gerais. The parents / caregivers respond to a structured questionnaire addressing issues related to the study theme and the short Brazilian version of the Parental-Caregiver Perceptions Questionnaire (P-CPQ), which measures the children's OHRQoL from the perspective of the parents. The researcher then performed the clinical examination of individuals with MPS and without MPS and investigated the following conditions: malocclusion, dental caries and oral hygiene. The examiner was previously calibrated, presenting kappa values ranging from 0.76 to 0.98. The main study was conducted after the calibration and pilot study. Data were analyzed using the software Statistical Package for Social Science (SPSS) (version 21.0). The Research Ethics Committee of the Federal University of Minas Gerais approved the study. The results were presented by scientific manuscript. The mean age of the subjects examined was 12.1 years (± 4.2). The age range of the parents / caregivers ranged from 23 to 59 years, with a mean of 40.9 years (± 9.0). Comparing the results of the domains of oral symptoms, functional limitation, well-being and instrument total, there was a statistically significant association, regarding the perception of parents about negative impact of oral characteristics on the OHRQoL of individuals with MPS (p<0001). The prevalence of malocclusion of individuals with MPS was statistically significant for the oral symptoms, functional limitation, well-being domains and instrument total (p <0.05). We concluded that individuals with MPS have a greater negative impact on the OHRQoL compared to individuals without MPS. The prevalence of malocclusion had a greater impact on the OHRQoL of individuals with MPS.


Subject(s)
Oral Hygiene , Quality of Life , Child , Adolescent , Mucopolysaccharidoses , Dental Care for Disabled , Impacts of Polution on Health , Rare Diseases , Dental Caries , Malocclusion/epidemiology , Cross-Sectional Studies
12.
Belo Horizonte; s.n; 2018. 111 p. ilus, graf, tab.
Thesis in English, Portuguese | LILACS, BBO | ID: biblio-1016407

ABSTRACT

As mucopolissacaridoses (MPS) representam um grupo de doenças genéticas metabólicas causadas por uma inadequação enzimática nos lisossomos do organismo relacionada aos erros inatos do metabolismo. Acarreta diversas alterações físicas, motoras e intelectuais. Dentre as alterações físicas, muitas estão presentes na face e na cavidade bucal. Na área odontológica são poucos os estudos relacionados às MPS. Ainda são insuficientes as informações sobre as características oclusofaciais presentes nos indivíduos diagnosticados com a anomalia e o impacto que essas características podem provocar na qualidade de vida dessa parcela da população. Este estudo objetivou comparar a percepção dos pais/responsáveis de indivíduos com MPS e sem MPS sobre a qualidade de vida relacionada à saúde bucal (QVRSB) desses indivíduos. Foi desenvolvido um estudo transversal, pareado, com 29 indivíduos com MPS e 29 sem MPS, na faixa etária de 3 a 21 anos, e os pais/responsáveis. Foram convidados a participar da pesquisa todos os pais/responsáveis por indivíduos diagnosticados com MPS atendidos pelo Ambulatório de Erros Inatos do Metabolismo do Hospital das Clínicas da Universidade Federal de Minas Gerais (UFMG) e pelo Hospital João Paulo II, ambos localizados em Belo Horizonte, região sudeste do Brasil. Os indivíduos sem MPS foram selecionados no setor de pediatria e de adolescente de ambos os hospitais. Aqueles pais/responsáveis que concordaram em participar assinaram o termos de consentimento livre e esclarecido. Este estudo foi aprovado pelo Comitê de Ética em Pesquisa da UFMG. A coleta de dados foi realizada em uma das clínicas da Faculdade de Odontologia da UFMG. Os pais/responsáveis respoderam um questionário estruturado abordando questões relacionadas ao tema do estudo e a versão brasileira curta do Parental-Caregiver Perceptions Questionnaire (P-CPQ), que mensura a QVRSB dos filhos na pespectiva dos pais. Em seguida a pesquisadora realizou o exame clínico dos indivíduos com MPS e sem MPS e investigou as seguintes condições: má oclusão, cárie dentária e higiene bucal. A examinadora foi previamente calibrada, sendo obtidos valores kappa entre 0,76 e 0,98. O estudo principal foi conduzido após a fase de calibração e estudo piloto. Os dados foram analisados por meio do software Statistical Package for Social Science - SPSS® (versão 21.0). Foi realizada a análise univariada e bivariada dos dados (p<0,05). Os resultados foram apresentados por meio de artigo científico. A média de idade dos indivíduos examinados foi de 12,1 anos (± 4,2). A faixa etária dos pais/responsáveis variou de 23 a 59 anos, com média de 40,9 anos (± 9,0). Comparando os resultados dos domínios "sintomas orais", "limitação funcional" e "bem estar", assim como o escore total do instrumento, houve uma associação estatisticamente significativa da percepção dos pais em relação ao impacto negativo das condições bucais na QVRSB de indivíduos com MPS (p<0,005). A prevalência de má oclusão dos indivíduos com MPS foi estatisticamente associada com os domínios "sintomas orais", "limitação funcional", "bem-estar e com o "escore total do instrumento" P-CPQ (p<0,05). Concluiu-se que indivíduos com MPS apresentaram um impacto negativo maior na QVRSB quando comparados aos indivíduos sem MPS. A presença de má oclusão apresentou maior impacto sobre a QVRSB dos indivíduos com MPS sob a perspectiva dos pais.


Mucopolysaccharidosis (MPS) is a group of genetic metabolic diseases caused by an enzymatic inadequacy in lysosomes of the organism related to inborn errors of metabolism. It involves various physical, motor and intellectual abnormalities. Among the physical alterations, many are present in the face and in the oral cavity. There are few studies in the area of dentistry dedicated to MPS, and information regarding the oral characteristics present in those diagnosed with the disease and the impact that these characteristics can have on the oral health related quality of life of such of such individuals remains insufficient. This study aimed to compare the perception of the parents / caregivers of individuals with MPS and without MPS regarding the oral health related quality of life (OHRQoL) of of these individuals. A paired cross-sectional study was performed of 29 individuals with MPS and 29 without MPS, age from 3 to 21 years, and the parents/ caregivers. All the parents / caregivers of individuals with MPS attended by two reference hospitals in MPS care in Belo Horizonte, southeastern of Brazil, were invited to participate in the study. Individuals without MPS were selected at the pediatric and adolescent clinic of both hospitals. Data collection was carried out in one of the clinics of the Faculty of Dentistry of Federal University of Minas Gerais. The parents / caregivers respond to a structured questionnaire addressing issues related to the study theme and the short Brazilian version of the Parental-Caregiver Perceptions Questionnaire (P-CPQ), which measures the children's OHRQoL from the perspective of the parents. The researcher then performed the clinical examination of individuals with MPS and without MPS and investigated the following conditions: malocclusion, dental caries and oral hygiene. The examiner was previously calibrated, presenting kappa values ranging from 0.76 to 0.98. The main study was conducted after the calibration and pilot study. Data were analyzed using the software Statistical Package for Social Science (SPSS) (version 21.0). The Research Ethics Committee of the Federal University of Minas Gerais approved the study. The results were presented by scientific manuscript. The mean age of the subjects examined was 12.1 years (± 4.2). The age range of the parents / caregivers ranged from 23 to 59 years, with a mean of 40.9 years (± 9.0). Comparing the results of the domains of oral symptoms, functional limitation, well-being and instrument total, there was a statistically significant association, regarding the perception of parents about negative impact of oral characteristics on the OHRQoL of individuals with MPS (p<0001). The prevalence of malocclusion of individuals with MPS was statistically significant for the oral symptoms, functional limitation, well-being domains and instrument total (p <0.05). We concluded that individuals with MPS have a greater negative impact on the OHRQoL compared to individuals without MPS. The prevalence of malocclusion had a greater impact on the OHRQoL of individuals with MPS.


Subject(s)
Oral Hygiene , Quality of Life , Child , Oral Health , Adolescent , Mucopolysaccharidoses , Impacts of Polution on Health , Dental Caries , Malocclusion , Cross-Sectional Studies , Surveys and Questionnaires , Dental Care for Disabled , Rare Diseases
13.
MedicalExpress (São Paulo, Online) ; 4(5)Sept.-Oct. 2017. tab, graf
Article in English | LILACS | ID: biblio-894364

ABSTRACT

BACKGROUND: Patients with mucopolysaccharidosis have several changes of the stomatognathic complex, representing a challenge for dentists. OBJECTIVE: The study aimed to evaluate and characterize oral health in patients with mucopolysaccharidosis in a reference center of Portugal. METHOD: The sample consisted of twelve participants with mucopolysaccharidosis followed in Metabolic Diseases Unit of the S. João Hospital Centre and twelve healthy participants followed at Faculty of Dental Medicine, University of Porto. The clinical oral evaluation was performed by a complete extra-oral and intra-oral examination to assess the presence of oral pathologies, gingival index and occlusion status. RESULTS: Mucoplysaccaridosis patients and controls presented similar age ranges and sex distribution. In comparison to controls, children with mucopolysaccharidosis presented a higher prevalence of tooth decay, gingival bleeding, macroglossia, dental hypoplasia, lingual interposition, delayed tooth eruption, anterior open bite, right and left posterior cross-bite, limitation of mouth opening, alteration on the size and shape of the teeth, diastemata and maxillary compression. CONCLUSIONS: Patients with mucopolysaccharidosis have a high prevalence eruption delay, teeth morphology alterations, occlusal problems, dental caries and bleeding gums, highlighting the need of oral health care providers to improve diagnostics and preventive protocols to overcome the factors that limit the oral health of these patients and promote together with parent/caregiver efficient oral care strategies.


INFORMAÇÕES GERAIS: Os pacientes com mucopolissacaridose apresentam diversas alterações do complexo estomatognático, representando um desafio para os médicos dentistas. OBJETIVO: O estudo pretendeu avaliar e caracterizar a saúde oral em pacientes com mucopolissacaridose num centro de referência em Portugal. MÉTODO: A amostra foi constituída por doze pacientes com mucopolissacaridose (MPS) seguidos na Unidade de Doenças Metabólicas do Centro Hospitalar de São João e doze participantes saudáveis seguidos na Faculdade de Medicina Dentária da Universidade do Porto. A avaliação clínica oral consistiu num completo exame extra-oral e intra-oral para avaliação de patologias orais, índice gengival e perfil oclusal. RESULTADOS: Pacientes com MPS e controlos apresentaram médias similares de idade e de distribuição de género. Em comparação com os controlos, crianças com mucopolissacaridose apresentam maior prevalência de dentes cariados, sangramento gengival, macroglossia, hipoplasia dentária, interposição lingual, erupção dentária atrasada, mordida aberta anterior, mordida cruzada posterior direita e esquerda, limitação da abertura da boca, alteração do tamanho e forma dentária, diastemas e compressão maxilar. CONCLUSÃO: Pacientes com mucopolissacaridose apresentam maior prevalência de erupção dentária atrasada, alterações morfológicas dentárias, problemas oclusais, cáries dentárias e gengivas inflamadas, reforçando a necessidade de prestadores de saúde oral para melhorar diagnósticos e protocolos preventivos para ultrapassar os fatores que limitam a saúde oral destes pacientes e promover em conjunto com pais/cuidadores estratégias de saúde oral eficientes.


Subject(s)
Humans , Child , Oral Manifestations , Oral Health , Mucopolysaccharidoses/complications , Portugal , Tooth Eruption , Open Bite/etiology , Dental Caries/etiology , Dental Enamel Hypoplasia/etiology , Diastema/etiology , Gingival Diseases/etiology , Macroglossia/etiology , Malocclusion/etiology
15.
Fisioter. Bras ; 18(1): f: 69-I: 79, 2017.
Article in Portuguese | LILACS | ID: biblio-883889

ABSTRACT

Objetivos: Caracterizar o perfil ventilatório e a capacidade funcional de pacientes com mucopolissacaridoses (MPS). Métodos: O perfil ventilatório caracterizou-se pela espirometria e pela forma da caixa torácica. A capacidade funcional foi obtida pela distância percorrida no teste de caminhada de seis minutos (DTC6M) e por questionários funcionais, Childhood Health Assessment Questionaire (CHAQ) e Health Assessment Questionaire (HAQ). Resultados: Dezenove pacientes com MPS, maioria do sexo masculino 16 (84,2%) e com mediana e intervalo interquartilíco (IIQ) de idade de 13,4 (6,3) anos. O MPS VI foi o mais frequente, 57,9%. Alteração na espirometria em 17/18 pacientes, com predomínio para o distúrbio ventilatório restritivo (DVR), 72,2%. Apresentaram alteração da caixa torácica 73,7%. Houve piora da capacidade vital forçada (CVF) (% previsto) com o aumento da idade para todos os tipos (r = - 0,37) e, ao retirar da análise o tipo II, a correlação aumentou consideravelmente (r = -0,726). A DTC6M em mediana e IIQ foi de 349 (106,5) metros, com variação mediana percentual, 64,7%, da distância percorrida prevista obtida pela equação de referência para indivíduos saudáveis, 575,2 (128,5) metros. Nos questionários funcionais, 13/19 pacientes tiveram leve comprometimento da capacidade funcional. Conclusão: Houve alterações da função pulmonar na espirometria, da caixa torácica e comprometimento da capacidade funcional. (AU)


Aims: To characterize the ventilatory profile and functional capacity of patients with mucopolysaccharidosis. Methods: The ventilatory profile was characterized by spirometry and evaluating the shape of the rib cage. Functional capacity was obtained by the distance covered on the six-minute walk test (6MWD) and, through functional questionnaires, the Childhood Health Assessment Questionnaire (CHAQ) and the Health Assessment Questionnaire (HAQ). Results: Nineteen patients were evaluated with MPS, most males, 16 (84.2%) with median and interquartile range (IQR) age of 13.4 (6.3) years. The most common types were VI, 57.9%. Change in spirometry in 17/18 patients who were examined, with predominance of restrictive ventilatory disorder, 72.2%. 73.7% patients had abnormal rib cage. There was worsening on forced vital capacity (FVC) (% predicted) with increasing age for all types (r = -0.37) and when withdrawing from Type II analysis, the correlation increased significantly (r = -0.726). The 6MWD median was 349 (IQR = 106.5) meters, with median percentage change, 64.7%, of distance traveled expected and obtained by reference equation for healthy individuals, 575.2(128.5) meters. Thirteen among 19 patients were assessed by functional questionnaires with mild impairment of functional capacity. Conclusion: Alterations were found in lung function through spirometry, abnormal rib cage and impaired functional capacity. (AU)


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Activities of Daily Living , Exercise Test , Mucopolysaccharidoses , Pulmonary Disease, Chronic Obstructive , Spirometry
16.
Braz. j. pharm. sci ; 52(4): 693-697, Oct.-Dec. 2016. tab, graf
Article in English | LILACS | ID: biblio-951881

ABSTRACT

ABSTRACT Mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by deficiency of enzymes that degrade glycosaminoglycans (GAGs). Urinary excretion of GAGs is a common feature of MPS, and is considered their major biomarker. We aimed to adapt the GAG electrophoresis method to a commercial agarose gel which would be able to separate urinary GAGs in a simpler way with good sensitivity and reproducibility. Urine samples from patients previously diagnosed with MPS I, IV, and VI were used as electrophoretic standards. Samples from patients on enzyme replacement therapy (ERT) were also assessed. Commercial agarose gel electrophoresis was effective, showing proper definition and separation of GAG bands. Detection sensitivity exceeded 0.1 µg and band reproducibility were consistent. GAG bands quantified in urine samples from patients on ERT correlated very strongly (correlation coefficient = 0.98) with total GAG concentrations. This application of gel electrophoresis demonstrates the possibility of monitoring patients with MPS treated with ERT by analyzing separately the GAGs excreted in urine. We suggest this process should be applied to MPS screening as well as to follow-up of patients on treatment.


Subject(s)
Humans , Male , Female , Child, Preschool , Mucopolysaccharidoses/diagnosis , Electrophoresis, Agar Gel , Glycosaminoglycans/therapeutic use , Urine , Electrophoresis/methods
17.
Rev. chil. pediatr ; 87(4): 295-304, ago. 2016. ilus, tab
Article in Spanish | LILACS | ID: lil-796820

ABSTRACT

Las mucopolisacaridosis (MPS) son un grupo de enfermedades raras (huérfanas), de baja prevalencia, caracterizadas por la deficiencia de enzimas que participan en el metabolismo de glucosaminglucanos (GAG) a nivel lisosomal. Se caracteriza por acumulación de GAG intracelular, produciendo alteraciones de múltiples órganos y sistemas. Su diagnóstico se basa en el conocimiento de las manifestaciones clínicas, realizar el análisis bioquímico para identificar el tipo de GAG que se está acumulando y confirmar el tipo de enfermedad con la determinación enzimática correspondiente. Su identificación es fundamental para iniciar un tratamiento oportuno, teniendo en cuenta que actualmente existe manejo transdisciplinario y tratamiento de reemplazo enzimático para MPS I (síndrome de Hurler), MPS II (síndrome de Hunter), MPS IV (síndrome de Morquio) y MPS VI (síndrome de Maroteaux-Lamy). En esta revisión se analizan cada uno de estos síndromes, su diagnóstico y tratamiento.


The mucopolysaccharidoses (MPS) are a group of rare (orphan) diseases, characterised by a deficiency of enzymes involved in the metabolism of glycosaminoglycans (GAGs) at lysosomal level. When there is a deficiency of a particular enzyme there is an accumulation of GAGs in the cells resulting in progressive cellular damage, which can affect multiple organ systems and lead to organ failure. Diagnosis is based on knowledge of the clinical manifestations, performing biochemical analyses to identify the type of GAG that is accumulating, and confirm the type of disorder with the corresponding enzymatic determination. Their identification is essential to initiate early treatment, taking into account that multidisciplinary management and enzyme replacement therapy is available for MPS I (Hurler syndrome), MPS II (Hunter syndrome), MPS IV (Morquio syndrome), and MPS VI (Maroteaux-Lamy syndrome. In this review, an analysis is made of each of these syndromes, as well as their diagnosis and treatment.


Subject(s)
Humans , Animals , Mucopolysaccharidoses/physiopathology , Enzyme Replacement Therapy/methods , Glycosaminoglycans/metabolism , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/therapy
18.
Article in English | LILACS | ID: lil-785828

ABSTRACT

ABSTRACT INTRODUCTION: Mucopolysaccharidosis is a hereditary lysosomal storage disease, which develops due to a deficiency in the enzymes that play a role in the metabolism of glycosaminoglycans (GAG). The incidence of mucopolysaccharidosis is 1/25,000, with autosomal recessive inheritance (except for MPS II). Mucopolysaccharidosis occurs in seven different types, each with a different congenital deficiency of lysosomal enzymes. In mucopolysaccharidosis patients, even though progression of clinical findings is not prominent, the disease advances and causes death at early ages. Facial dysmorphism, growth retardation, mental retardation, and skeletal or joint dysplasia are the most frequently found symptoms in these patients. OBJECTIVE: The purpose of our study is to present the types of hearing loss types and tympanometric findings of patients with mucopolysaccharidosis referred to our clinic with suspicion of hearing loss. METHODS: After otorhinolaryngological examination, 9 patients with different types of mucopolysaccharidosis, underwent to immittance and audiometric evaluations, performed according to their physical and mental abilities, and ages, in order to determine their hearing thresholds. RESULTS: The audiometric findings of the 9 patients followed with mucopolysaccharidosis were reported separately for each case. CONCLUSION: Based on the high frequency of hearing loss in mucopolysaccharidosis patients, early and detailed audiological evaluations are highly desirable. Therefore, regular and systematic multidisciplinary evaluations are very important.


Resumo Introdução: Mucopolissacaridose (MPS) é uma doença hereditária de depósito lisossômico, decorrente da deficiência das enzimas que influenciam o metabolismo dos glicosaminoglicanos (GAGs). A incidência de MPS é de 1/25.000 habitantes, resultante de herança autossômica recessiva (exceto no caso de MPS II). MPS se apresenta na forma de sete tipos diferentes e, em cada tipo, ocorre uma deficiência congênita distinta de enzimas lisossômicas. Embora em pacientes com MPS os achados clínicos não sejam geralmente observados, a doença progride em seu curso natural e costuma levar a óbito pacientes muito jovens. Dismorfismo facial, retardo de crescimento, retardo mental e displasia esquelética ou articular são os sinais e sintomas mais frequentemente observados nesses pacientes. Objetivo: A finalidade do presente estudo foi apresentar os tipos de perda auditiva e os achados timpanométricos de pacientes com MPS encaminhados para nossa clínica com suspeita de perda auditiva. Método: Em seguida ao exame otorrinolaringológico, nove pacientes com diferentes tipos de MPS, foram submetidos a avaliações imitanciométricas e testes audiométricos de acordo com sua faixa etária eficiência física e mental, no intuito de identificar seus limiares auditivos. Resultados: Os achados audiométricos dos nove pacientes acompanhados por MPS foram descritos separadamente para cada caso. Conclusão: Baseado na alta frequência de perda auditiva em pacientes com MPS, avaliação audiológica precoce e detalhada é altamente desejável. Para tanto, é importante que sejam realizados avaliações multidisciplinares periódicas e sistemáticas.


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Mucopolysaccharidoses/complications , Hearing Loss/etiology , Audiometry , Acoustic Impedance Tests , Severity of Illness Index , Hearing Loss/diagnosis
19.
Hist. ciênc. saúde-Manguinhos ; 23(1): 173-192, enero-mar. 2016.
Article in Portuguese | LILACS | ID: lil-777303

ABSTRACT

Resumo Esse estudo mostra a luta de pais para que filhos portadores de mucopolissacaridose tenham acesso a medicamentos caros, em nome do direito universal à saúde. O trabalho explora como, no Brasil, o litígio pelo direito à saúde tornou-se um caminho alternativo de acesso à saúde e evidencia a disputa de diferentes atores dos setores público e privado no processo de judicialização da saúde. Entende-se, portanto, que a biotecnologia recria valores humanos e mundos locais à medida que abre novos espaços de problematização ética, desejo e pertencimento político.


Abstract This study draw on the struggle of parents of children with mucopolysacchar idosis to access expensive drugs in the name of universal right to health. The work explores how, in Brazil, right-to-health litigation became an alternative pathway to access health care and shows that several public and private stakeholders dispute the judicialization of health. Biotechnology is, therefore, understood to remake human and social worlds as it opens up new spaces of ethical problematization, desire, and political belonging.


Subject(s)
Humans , Child , Health Services Accessibility/legislation & jurisprudence , Human Rights/legislation & jurisprudence , Mucopolysaccharidoses/drug therapy , Drug Therapy/economics
20.
Coluna/Columna ; 15(1): 57-60, Jan.-Mar. 2016. tab, graf
Article in English | LILACS | ID: lil-779071

ABSTRACT

ABSTRACT Objective: Evaluate the results after decompression and stabilization of craniocervical junction in patients with mucopolysaccharidosis (MPS). Method: Retrospective study of 10 patients with MPS through the analysis of medical records and additional tests. Result: All patients with mid-term and long-term follow-up achieved consolidation of the arthrodesis and 87.5% had neurological improvement of Nurick score. Conclusion: Early diagnosis and intervention in cases of stenosis and/or craniocervical instability of patients with MPS provide patients a good recovery of neurological function, despite the great technical difficulty and risk of complications.


RESUMO Objetivo: Avaliar os resultados após a descompressão e estabilização da junção craniocervical em pacientes portadores de mucopolissacaridose (MPS). Método: Estudo retrospectivo de 10 pacientes portadores de MPS, por meio da análise de prontuário e de exames complementares. Resultado: Todos os pacientes com acompanhamento a médio e longo prazo atingiram a consolidação da artrodese e 87,5% tiveram melhora neurológica no escore Nurick. Conclusão: O diagnóstico e a intervenção precoces em casos de estenose e/ou instabilidade craniocervical em pacientes com MPS proporcionam aos pacientes uma boa recuperação da função neurológica, apesar da grande dificuldade técnica e do risco de complicações.


RESUMEN Objetivo: Evaluar los resultados después de la descompresión y estabilización de la unión craneocervical en pacientes con mucopolisacaridosis (MPS). Método: Estudio retrospectivo con 10 pacientes con mucopolisacaridosis, a través del análisis de las historias clínicas y de pruebas complementarias. Resultado: Todos los pacientes con seguimiento a medio y largo plazo alcanzaron la consolidación de la artrodesis y 87,5% presentaron mejoría neurológica de la puntuación Nurick. Conclusión: El diagnóstico e intervención temprana en casos de estenosis y/o inestabilidad craneocervical en pacientes con MPS proporcionan a los pacientes una buena recuperación de la función neurológica, a pesar de la gran dificultad técnica y el riesgo de complicaciones.


Subject(s)
Humans , Mucopolysaccharidoses , Spinal Cord Compression , Treatment Outcome , Decompression, Surgical
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