Dosing of enzyme replacement therapy (ERT) for Gaucher disease type 1 is still a subject of debate and varies from 15 to 130 U/kg/mo, making a huge economic difference of US $70 000 to US $380 000 (€55 000-300 000) per patient per year. To investigate whether this difference in dosing ultimately translates into a different response, we retrospectively compared long-term outcome of ERT at 2 larg...

Pulmonary mycoses are often associated with type-2 helper T (Th2) cell responses. However, mechanisms of Th2 cell accumulation are multifactorial and incompletely known. To investigate Th2 cell responses to pulmonary fungal infection, we developed a peptide-MHCII tetramer to track antigen-specific CD4+ T cells produced in response to infection with the fungal pathogen Cryptococcus neoformans. W...

Enzyme replacement therapy (ERT) with imiglucerase reduces hepatosplenomegaly and improves hematologic parameters in Gaucher disease type 1 within 6-24 months. Miglustat reduces organomegaly, improves hematologic parameters, and reverses bone marrow infiltration. This trial evaluates miglustat in patients clinically stable on ERT. Tolerability of miglustat and imiglucerase, alone and in combina...

INTRODUCTION Immune system activation is involved in Huntington's disease (HD) pathogenesis and biomarkers for this process could be relevant to study the disease and characterise the therapeutic response to specific interventions. We aimed to study inflammatory cytokines and microglial markers in the CSF of HD patients. METHODS CSF TNF-α, IL-1β, IL-6, IL-8, YKL-40, chitotriosidase, total tau...

Amaç: İntrauterin dönemde gelişme kısıtlılığı gösteren fetüsler ile gestasyonel haftasına göre küçük doğum ağırlığına sahip arasında, fetal kordon kanı ve maternal serum kan chitotriosidase değerlerinin arasındaki farkların araştırılması amaçlanmıştır.
 Gereç Yöntem: olan (IUGK) (n:15), yapısal olarak düşük ağırlıklı (SGA) (n:15) herhangi bir problemi olmayan uygun (AGA) (n:30) çalışmamıza...

Objective:In this study, we aimed to investigate serum chitotriosidase (ChT) activity and irisin levels in children with obesity compare them those of healthy counterparts. Material Methods: A total 91 obese 83 normal-weight were included the study. Serum ChT compared children. Results: The mean value group was 1825.332 ± 4804.147 nmol/L/h significantly higher than that control group. In contra...

Gaucher's Disease (GD) is the most common lysosomal storage disease. It results from a genetic deficiency of the lysosomal enzyme ?glucocerebrosidase causing an abnormal accumulation of glucocerebrosides in macrophages. Type ? GD is the commonest, defined by the absence of neurologic involvement. Characteristic features include hepatosplenomegaly, skeletal involvement, elevated levels of serum ...