International guidelines for the management and treatment of Morquio A syndrome.

Morquio A syndrome (mucopolysaccharidosis IVA) is a lysosomal storage disorder associated with skeletal and joint abnormalities and significant non-skeletal manifestations including respiratory disease, spinal cord compression, cardiac disease, impaired vision, hearing loss, and dental problems. The clinical presentation, onset, severity and progression rate of clinical manifestations of Morquio A syndrome vary widely between patients. Because of the heterogeneous and progressive nature of the disease, the management of patients with Morquio A syndrome is challenging and requires a multidisciplinary approach, involving an array of specialists. The current paper presents international guidelines for the evaluation, treatment and symptom-based management of Morquio A syndrome. These guidelines were developed during two expert meetings by an international panel of specialists in pediatrics, genetics, orthopedics, pulmonology, cardiology, and anesthesia with extensive experience in managing Morquio A syndrome

Revisão da metodologia analítica de determinação do extrato seco de vinho.

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Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

Most lysosomal diseases (LD) are inherited as autosomal recessive traits, but two important conditions have X-linked inheritance: Fabry disease and Mucopolysaccharidosis II (MPS II). These two diseases show a very different pattern regarding expression on heterozygotes, which does not seem to be explained by the X-inactivation mechanism only. While MPS II heterozygotes are asymptomatic in most instances, in Fabry disease most of female carriers show some disease manifestation, which is sometimes severe. It is known that there is a major difference among X-linked diseases depending on the cell autonomy of the gene product involved and, therefore, on the occurrence of cross-correction. Since lysosomal enzymes are usually secreted and uptaken by neighbor cells, the different findings between MPS II and Fabry disease heterozygotes can also be due to different efficiency of crosscorrection (higher in MPS II and lower in Fabry disease). In this paper, we review these two X-linked LD in order to discuss the mechanisms that could explain the different rates of penetrance and expressivity observed in the heterozygotes; this could be helpful to better understand the expression of X-linked traits

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n = 677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity endpoints separately. Cardiac events occurred at younger ages than cerebrovascular or renal events, cerebrovascular events were more frequent in females than males, and males were more likely to experience cardiac and renal events at a younger age than females

Social inequalities in maternal opinion of child development in southern Brazil.

AIMS AND METHODS: Concurrent validity of maternal opinion of child development was estimated in a cross-sectional, population-based survey of 6-59-mo children (n=3025), using a standard measure devised from the Denver Developmental Screening Test. RESULTS: Sensitivity, specificity and negative predictive value increased with maternal education and family income. Positive predictive value was higher in low-income families and children with impairments, low birthweight and long hospital stays. CONCLUSION: Children at social and clinical risk should be assessed more carefully, even if maternal report is normal or advanced

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance.

IntroductionMucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for individualised treatment. Although treatment guidelines are available, the methodology used to develop this guidance has come under increased scrutiny. This programme was conducted to provide evidence-based, expert-agreed recommendations to optimise management of MPS IVA.MethodsTwenty six international healthcare professionals across multiple disciplines, with expertise in managing MPS IVA, and three patient advocates formed the Steering Committee (SC) and contributed to the development of this guidance. Representatives from six Patient Advocacy Groups (PAGs) were interviewed to gain insights on patient perspectives. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with experience managing patients with MPS IVA and the manuscript was evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers.ResultsA total of 87 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) disease-modifying interventions (enzyme replacement therapy [ERT] and haematopoietic stem cell transplantation [HSCT]); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions (including spinal, limb, ophthalmic, cardio-thoracic and ear-nose-throat [ENT] surgeries). Consensus was reached on all statements after two rounds of voting. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance).ConclusionThis manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS IVA and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps

The consumption of unhealthy foods by Brazilian children is influenced by their mother’s educational level

Objective: To evaluate the association between the consumption of unhealthy foods in children under one year and the education level of the mothers, data obtained from participants of the II Survey on the prevalence of breastfeeding in the Brazilian capitals and the Federal District in 2008 was analyzed. Methods: During the second stage of the campaign for multi-vaccination, a questionnaire on food consumption in the last 24 hours was given to mothers or guardians of children under one year old. We analyzed the consumption of unhealthy foods according to age group, maternal education, region of residence and breastfeeding status. The state capitals and the Federal District were grouped according to the five macro-regions of the country (North, Northeast, Southeast, South and West). Processed juice, soda, coffee, cookies/salted snacks and sugar and/or honey were defined as unhealthy foods. Prevalence ratios (RP) for the association between the consumption of unhealthy foods and maternal education were estimated using Poisson regression models. Results: The study included 34,366 children. The consumption of sweet foods started early and was predominant until the age of six months; after this age, the consumption of biscuits and/or snacks became more prevalent. The consumption of these foods also differs in relation to the macro-region of residence. Consumption of unhealthy foods was higher among mothers with lower education levels. Conclusions: The consumption of unhealthy foods by Brazilian children under one year old was high, indicating a need for developing effective strategies to combat the consumption of unhealthy foods in Brazilian children as a way of preventing obesity and other future disorders