Laboratory diagnosis of lysosomal storage disorders, especially sphingomyelinase deficiency (Niemann-Pick disease type A/B) and Niemann-Pick disease type C (NPC) can be challenging. We therefore aimed to analyse the feasibility of first-step screening with specific chitotriosidase cut-off values in children = 10 years of age with visceral organomegaly (hepatomegaly, splenomegaly, or hepatosplenomegaly) in whom a storage disorder was suspected. We conducted a retrospective, cross-sectional, referral, single-centre study to assess diagnostic test properties in 106 individuals. Median chitotriosidase activity was 12 655 nmol/h per ml (interquartile range 4693-20982) in Gaucher disease (GD); 780 (465-1298) in SMD (sphingomyelinase deficiency); 925 (319-1215) in NPC and 50 (29-54) in patients with miscellaneous diseases. To restrict the differential diagnosis to GD, SMD or NPC, chitotriosidase activity above 200 nmol/h per ml had a sensitivity of 96%, specificity of 100%, positive predictive value (PPV) of 100%, and negative predictive value (NPV) of 95%. For GD alone, chitotriosidase activity above 4000 nmol/h per ml had a sensitivity of 77%, specificity of 100%, PPV of 100% and NPV of 92%. Of the 44 patients analysed, 4.5% were homozygous and 36.4% heterozygous for chitotriosidase gene duplication. Adjusting for the chitotriosidase genotype, chitotriosidase activities were higher in GD type III than in GD type I. We conclude that, in the above setting, the degree of elevation of chitotriosidase activity can be applied to increase the likelihood of GD, SMD, or NPC and guide the choice of the appropriate confirmatory assay.
This study aimed to investigate the impact of education, financial income, occupation, and patient counseling on the timing of enrolment in a spinal cord injury (SCI) rehabilitation program. Overview of Literature: A rehabilitation program following SCI is essential to improve functional outcomes. Socioeconomic factors can affect the timing of enrolment to a rehabilitation program. Literature on the effects of socioeconomic factors among patients with SCI in the Indian scenario is limited. Methods: A prospective, consecutive analysis of patients with SCI was performed with 1-year follow-up. Assessment of the timing of enrolment to a rehabilitation program was performed using the modified Kuppuswamy socioeconomic scores (MKSS). Patients admitted to the SCI unit (group A), underwent intensive individual, group, and family counseling sessions to encourage early enrolment into a rehabilitation program. Patients presenting directly for rehabilitation (group B) were analyzed for comparison. Results: A total of 153 patients were recruited. Group A was composed of 122 patients who started the rehabilitation program after a mean of 28 days, compared with a mean of 149 days for 31 patients in group B. In group A, 104 patients (85%; mean MKSS, 14.02) and 18 patients (15%; mean MKSS, 15.61) enrolled for rehabilitation <6 weeks and ≥6 weeks, respectively. In group B, 12 patients (39%; mean MKSS, 13.69) and 19 patients (61%; mean MKSS, 12.10) enrolled for rehabilitation <6 weeks and ≥6 weeks, respectively. The total MKSS and scores for education, income, and occupation did not show a significant difference between the two both groups (p>0.05). Conclusions: Early patient counseling in the acute care unit helps in the early enrolment of patients with poor socioeconomic demographic profile to a rehabilitation program.
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