Salivary Metabolites in Patients with Mucopolysaccharidosis

ABSTRACT Objective: To identify the salivary metabolites profile of Mucopolysaccharidosis (MPS) types I, II, IV, and VI patients. Material and Methods: The participants were asked to refrain from eating and drinking for one hour before sampling, performed between 7:30 and 9:00 a.m. Samples were centrifuged at 10.000 × g for 60 min at 4°C, and the supernatants (500µl) were stored at −80°C until NMR analysis. The salivary proton nuclear magnetic resonance (1H-NMR) spectra were acquired in a 500 MHz spectrometer, and TOCSY experiments were used to confirm and assign metabolites. Data were analyzed descriptively. Results: Differences in salivary metabolites were found among MPS types and the control, such as lactate, propionate, alanine, and N-acetyl sugar. Understanding these metabolite changes may contribute to precision medicine and early detection of mucopolysaccharidosis and its monitoring. Conclusion: The composition of low molecular weight salivary metabolites of mucopolysaccharidosis subjects may present specific features compared to healthy controls.

Avaliação do comprometimento auditivo em pacientes com mucopolissacaridose / Evaluation of hearing loss in patients with mucopolysaccharides Psicol

Introdução: Mucopolissacaridose (MPS) é um conjunto de doenças raras causadas pela deficiência de enzimas lisossômicas levando ao acúmulo de glicosaminoglicanos (GAG) em órgãos e tecidos, responsáveis pelo quadro clínico multissistêmico, crônico e progressivo. O comprometimento auditivo é frequente. Objetivo: Avaliar manifestações auditivas de pacientes com MPS. Metodologia: Estudo descritivo, série de casos do comprometimento auditivo de pacientes com MPS. Foi realizada avaliação retrospectiva através de revisão de prontuário e avaliação prospectiva de dezembro de 2012 a outubro de 2014. Foram analisados a primeira e a última avaliação otorrinolaringológica (ORL) e audiológica realizada. Resultados: A principal queixa auditiva foi a hipoacusia. Aperdaauditiva estava presente em quase todos os pacientes, sendo que a perda auditiva condutiva foi a mais frequente, especialmente nos pacientes com MPS VI. Conclusão: A perda auditiva é muito frequente em pacientes com MPS, devendo o acompanhamento audiológico ser realizado precocemente.

Introduction: Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes leading to accumulation of glicosaminoglicanos (GAG) in tissues and organs responsible for the multisystemic clinical, chronic and progressive symptons. Objective: Todescribe the profile of otorhinolaryngological clinical examination and audiology tests of patients with MPS disease. Methods:Study of case series. The evaluation was performed, at the beginning, in 31 patients with MPS I, II, IIIA, IV and VI. Results: The most common hearing complaint was hearing loss and it was confirmed by audiology tests in almost 100% of patients, mostly with condutive hearing loss. Conclusions: It is important to evaluate the complaints, physical examination and audiology tests in MPS disease. Otorhinolaryngologist should be part of professional group that follow these patients in order to better monitor their hearing and provide early hearing rehabilitation.

Achados anatomo-patológicos e ultraestruturais na mucopolissacaridose: relato de caso / Anatomo-pathological and ultrastructural features in mucopolysaccharidosis: case report

As mucopolissacaridoses (MPS) sao doencas de acumulo lisossomal em que ocorre defeito enzimatico especifico com consequente acumulo de glicosaminoglicanos nos tecidos. Os autores relatam o caso de necropsia de paciente do sexo masculino, com 10 anos de idade, com diagnostico clinico e laboratorial de MPS. O exame de necropsia revelou espessamento acentuado de meninges e das valvas cardiacas e hepatomegalia. O exame microscopico do encefalo evidenciou acumulo de histiocitos espumosos ao redor dos vasos e nas meninges, assim como neuronios contendo material citoplasmatico condizente com gangliosideo. Alteracoes sistemicas como acumulo de histiocitos espumosos em valvas cardiacas e figado foram evidenciados. O exame ultra-estrutural do encefalo, figado e baco demonstrouacumulo de material grumoso no interior de vacuolos em histiocitos e hepatocitos, alem de acumulo de gangliosideo nos neuronios.

Evaluation of short neck: new neck length percentiles and linear correlations with height and sitting height.

Qualitative impressions of neck length are often used as aids to dysmorphology in syndromes like Turner, Noonan, Klippel-Feil and in craniovertebral anomalies, some of which have serious neurological implications. There are no national or international standards for neck length. The present study attempted to create standards and percentile charts for Indian children and compute age-independent correlations of neck length with linear measurements such as standing and sitting height. A total of 2724 children of both sexes between 3 and 15 years, whose heights and weights conformed to ICMR standards were inducted. Neck length was measured by a modified two-point discriminator between two fixed bony points-inion and spinous process of C7 with the head held in neutral position. Percentiles (5th-95th) were constructed for both sexes. Growth was rapid from 3 to 6 years. Neck length formed a mean of 12.7 +/- 4.58% of height and 20.1 +/- 6.73% of sitting height. Age independent linear regression equations: Neck length = 10 + (0.035 x height) and Neck length = 9.65 + (0.07 x sitting height) were highly significant (p < 0.001). Neck length relationships of 30 randomly selected normal children clustered around the regression lines and 16 with genetic syndromes fell below the regression lines.