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1.  Waldenström's macroglobulinemia harbors a unique proteome where Ku70 is severely underexpressed as compared with other B-lymphoproliferative disorders 
Blood Cancer Journal  2012;2(9):e88-.
Waldenström's macroglobulinemia (WM) is a clonal B-cell lymphoproliferative disorder (LPD) of post-germinal center nature. Despite the fact that the precise molecular pathway(s) leading to WM remain(s) to be elucidated, a hallmark of the disease is the absence of the immunoglobulin heavy chain class switch recombination. Using two-dimensional gel electrophoresis, we compared proteomic profiles of WM cells with that of other LPDs. We were able to demonstrate that WM constitutes a unique proteomic entity as compared with chronic lymphocytic leukemia and marginal zone lymphoma. Statistical comparisons of protein expression levels revealed that a few proteins are distinctly expressed in WM in comparison with other LPDs. In particular we observed a major downregulation of the double strand repair protein Ku70 (XRCC6); confirmed at both the protein and RNA levels in an independent cohort of patients. Hence, we define a distinctive proteomic profile for WM where the downregulation of Ku70—a component of the non homologous end-joining pathway—might be relevant in disease pathophysiology.
doi:10.1038/bcj.2012.35
PMCID: PMC3461705  PMID: 22961060
Waldenström macroglobulinemia; proteomics; 2D-electrophoresis; XRCC6
2.  Two Argentinean Siblings with CDG-Ix: A Novel Type of Congenital Disorder of Glycosylation? 
JIMD Reports  2011;1:65-72.
Congenital disorders of glycosylation (CDG) are genetic diseases caused by abnormal protein and lipid glycosylation. In this chapter, we report the clinical, biochemical, and molecular findings in two siblings with an unidentified CDG (CDG-Ix). They are the first and the third child of healthy consanguineous Argentinean parents. Patient 1 is now a 11-year-old girl, and patient 2 died at the age of 4 months. Their clinical picture involved liver dysfunction in the neonatal period, psychomotor retardation, microcephaly, seizures, axial hypotonia, feeding difficulties, and hepatomegaly. Patient 1 also developed strabismus and cataract. They showed a type 1 pattern of serum sialotransferrin. Enzymatic analysis for phosphomannomutase and phosphomannose isomerase in leukocytes and fibroblasts excluded PMM2-CDG and MPI-CDG. Lipid-linked oligosaccharide (LLO) analysis showed a normal profile. Therefore, this result could point to a deficiency in the dolichol metabolism. In this context, ALG8-CDG, DPAGT1-CDG, and SRD5A3-CDG were analyzed and no defects were identified. In conclusion, we could not identify the genetic deficiency in these patients yet. Further studies are underway to identify the basic defect in them, taking into account the new CDG types that have been recently described.
doi:10.1007/8904_2011_18
PMCID: PMC3509812  PMID: 23430830
Congenital disorders of glycosylation; Isoelectrofocusing; N- and O-glycosylation
3.  Effects of levodopa on upper limb mobility and gait in Parkinson's disease 
Objectives: To evaluate the correlation between dopa induced gait improvement and upper limb motor improvement using a rapid and simple method; and to evaluate the correlation between gait improvement and UPDRS III improvement.
Methods: A finger tapping test and a simple walking test were used to measure the OFF-ON variations of upper limb motor function and gait in 23 patients with Parkinson's disease. The UPDRS motor score and the Hoehn and Yahr stage were measured in the OFF and the ON state.
Results: There was no correlation between OFF-ON variation of the number of hits with the finger tapping test and OFF-ON variation in the gait variables. OFF-ON variation in the UPDRS motor score was not correlated with OFF-ON variation in the gait variables.
Conclusions: There was a dissociation between the effect of levodopa on upper limb and gait. The findings suggest that simple measures like the finger tapping test and a walking test should be included in the usual evaluation of patients with Parkinson's disease.
doi:10.1136/jnnp.74.9.1304
PMCID: PMC1738662  PMID: 12933941

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