As a medical student I rotated through an elite hospital where it was believed that every patient admitted to the medicine service needed a rectal exam. The rationale was to avoid ever missing a case of rectal or prostate cancer. Eventually, the utility of digital rectal examination as a cancer-screening tool was debunked. Thankfully, this practice has fallen out of favor. Despite evidence that it's unhelpful, it continues to be commonly performed. The pharyngeal reflex involves stimulating the posterior pharynx, which will usually elicit a reflexive constriction of the pharynx with elevation of the uvula.
Quantitative GAG Analysis
MPS disorders are a group of lysosomal storage diseases with defects in enzymes needed for the degradation of glycosaminoglycans GAGs. Eleven enzymes are involved in the catabolic pathways of chondroitin sulfate CS , dermatan sulfate DS , heparan sulfate HS , keratan sulfate KS , or hyaluronan. Deficiencies of these enzymes result in specific GAG accumulations in lysosomes and cellular dysfunction, ultimately leading to clinical manifestations. Seven types of MPS disorders have been classified based on the enzymatic defects and storage material involved. MPS disorders are multi-systemic, with progressive involvement of the brain, visceral organs, and bones.
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Neuropaediatric Unit, Hospital 12 de Octubre, Avda. Hunter syndrome Mucopolysaccharidosis type II is an inherited lysosomal storage disorder with potentially severe degenerative consequences. Clinical diagnosis is not easy, although biochemical confirmation is straightforward, and sometimes patients are diagnosed at a late age. It is widely believed, for inborn errors of metabolism in general, that early diagnosis and management is of paramount importance for improving the prognosis of the disease. The objective of this study was to identify specific populations at risk of suffering from Hunter syndrome. Urine samples were obtained from children between the ages of 0 to 18, belonging to known risk groups of mucopolysaccharidosis MPS type II, for the semi-quantitative GAG test and quantitative determination of glycosaminoglycans GAG. One case of Hunter syndrome was found among the samples that were collected and analysed. This study supports the feasibility of early diagnosis and the usefulness of screening tests for MPS II in specific paediatric populations. Hunter syndrome Mucopolysaccharidosis type II — MPS II; OMIM is a genetic storage disease in which the deficiency of the iduronatesulphatase lysosomal enzyme produces a progressive deposition of glycosaminoglycans mucopolysaccharides in various organs, leading to degenerative symptoms.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans formerly called mucopolysaccharides are also found in the fluid that lubricates our joints. People with a mucopolysaccharidosis disease either do not produce enough of one of the 11 enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development. Diagnosis often can be made through clinical examination and measurement of Glycosaminoglycans in urine. Urine analysis for excessive urinary excretion of glycosaminoglycans is the basis for screening tests for mucopolysaccharidosis. Enzyme assays testing a variety of cells or body fluids in culture for enzyme deficiency and DNA analysis are also used to provide definitive diagnosis of one of the mucopolysaccharidoses.