mucopolysaccharidoses/obesitas

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The factors affecting lipid profile in adult patients with Mucopolysaccharidosis.

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BACKGROUND Mucopolysaccharidoses (MPS) are a group of rare inherited disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) within the myocytes and coronary arteries. Little is known about hyperlipidaemia as a potential cardiovascular risk factor in these patients. Baseline

Prospective study of 11 Brazilian patients with mucopolysaccharidosis II.

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OBJECTIVE To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. METHODS Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre. The initial

Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome).

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Hematopoietic cell transplantation is a life-saving procedure, but one associated with increasing long-term cardiovascular risk requiring frequent long-term follow-up. This therapy has significantly lengthened survival in mucopolysaccharidosis type IH (Hurler syndrome), a disease with known coronary

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy.

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Cathepsins (CTSs) are ubiquitously expressed proteases normally found in the endolysosomal compartment where they mediate protein degradation and turnover. However, CTSs are also found in the cytoplasm, nucleus, and extracellular matrix where they actively participate in cell signaling, protein

From hypertransaminasemia to mucopolysaccharidosis IIIA.

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ᅟ: Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by the deficiency of a lysosomal enzyme catalyzing the catabolic pathway of heparan sulphate. MPS III presents with progressive mental deterioration, speech delay and behavioural problems with

Lingual tonsils hypertrophy; a cause of obstructive sleep apnea in children after adenotonsillectomy: operative problems and management.

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OBJECTIVE Although adenotonsillar hypertrophy has been reported to be the commonest cause of pediatric obstructive sleep apnea (OSA), enlargement of the lingual tonsils is increasingly being recognized as a cause, even after adenotonsillectomy. The aim of our study was to elucidate the lingual

Peri-operative complications after adenotonsillectomy in a UK pediatric tertiary referral centre.

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OBJECTIVE Adenoidectomy and/or tonsillectomy are commonly performed in tertiary pediatric hospitals for the management of obstructive sleep apnea, often in children with significant comorbidities. This study examines the peri-operative course of a large series of complex patients undergoing such

Lysosomal dysfunction results in altered energy balance.

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The mucopolysaccharidosis (MPS) type VII mouse was originally described as the adipose storage deficiency mouse because of its extreme lean phenotype of unknown etiology. Here, we show that adipose storage deficiency and lower leptin levels are common to five different lysosomal storage diseases

Carpal tunnel syndrome in children.

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BACKGROUND Carpal tunnel syndrome or median neuropathy at the wrist is a rare condition in children. Of the reported patients with carpal tunnel syndrome, mucopolysaccharidoses and the mucolipidoses are the most common causes. METHODS We report 13 patients between the ages of 2 and 17 years of age

Clinical Practice Guideline: Tonsillectomy in Children (Update)-Executive Summary.

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This update of a 2011 guideline developed by the American Academy of Otolaryngology-Head and Neck Surgery Foundation provides evidence-based recommendations on the pre-, intra-, and postoperative care and management of children 1 to 18 years of age under consideration for

Clinical practice guideline: Polysomnography for sleep-disordered breathing prior to tonsillectomy in children.

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OBJECTIVE This guideline provides otolaryngologists with evidence-based recommendations for using polysomnography in assessing children, aged 2 to 18 years, with sleep-disordered breathing and are candidates for tonsillectomy, with or without adenoidectomy. Polysomnography is the electrographic

Clinical Practice Guideline: Tonsillectomy in Children (Update).

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