Haematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.

Mucopolysaccharidosis type VII (MPS VII) is an inherited disease characterized by the cellular accumulation of undegraded GAGs due to the deficiency of the lysosomal enzyme β-glucuronidase. We describe a case of a 2-year-old female affected by a moderate form of MPS VII and submitted twice to HSCT with the aim of stabilizing skeletal problems and preventing neurocognitive alterations. The child underwent a second transplantation due to the rejection of the graft after a reduced-intensity conditioning in the first transplant.

Validity of the Spanish version of the Scoliosis Research Society-22 (SRS-22) Patient Questionnaire.

Study Design: A cross-sectional multicenter study was performed to validate the Spanish version of the Scoliosis Research Society-22 (SRS-22) Patient Questionnaire.

Objectives: To determine the construct validity and convergent validity of the instrument.

Methods: The Spanish version of the SRS-22 was given to 175 patients with scoliosis (mean age, 19 years old and 86% women).

The Spanish version of the SRS-22 patient questionnaire for idiopathic scoliosis: transcultural adaptation and reliability analysis.

Study Design: Validation of the transcultural adaptation of a questionnaire for measuring health-related quality of life.

Objectives: To translate and culturally adapt the SRS-22 questionnaire to Spanish. To determine the metric qualities (internal consistency and test-retest reproducibility) of this questionnaire.