Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

Background: Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.

Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II.

Unlabelled: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is X-linked recessive lysosomal storage disorder resulting from the defective activity of the enzyme iduronate-2-sulfatase (IDS). Hunter disease can vary from mild to severe, depending on the level of enzyme deficiency. We report the IDS mutation and polymorphisms causing the Hunter syndrome in patients from one family in Tunisia

Patients And Methods: A preliminary diagnosis was made by qualitative detection of urinary glycosaminoglycans of the suspected MPS II probands.

Rapid diagnosis of acute hemorrhagic conjunctivitis due to coxsackievirus A24 variant by real-time one-step RT-PCR.

Coxsackievirus A24 variant is, together with enterovirus 70 and adenoviruses, the major etiological agent involved in acute hemorrhagic conjunctivitis outbreaks worldwide. However, the standard virus isolation method followed by serotyping or VP1 region sequencing is time-consuming. A rapid method for the detection of coxsackievirus A24 variant from conjunctival swab specimens would be useful in the context of explosive and extensive outbreaks.

RNA extraction and RT-PCR procedures adapted for the detection of enterovirus sequences from frozen and paraffin-embedded formalin-fixed spinal cord samples.

Methods for detecting enterovirus RNA in both paraffin-embedded, formalin-fixed and frozen spinal cord sections from amyotrophic lateral sclerosis (ALS) patients were established. A proteinase K digestion following the deparaffinization procedure was required for the fixed spinal cord sections, whereas only one step of crushing in phosphate buffered saline was necessary for the frozen samples prior to the extraction of the RNA. With an optimized reverse transcription and PCR procedure, enterovirus RNA could be detected from frozen and fixed archival spinal cord samples.