Pramod K Mistry

Summary

Affiliation: Yale University
Country: USA

Publications

  1. pmc Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
    Philip Stein
    Department of Pediatrics, National Gaucher Disease Treatment Center, Yale University School of Medicine, 333 Cedar Street, LMP 4093, New Haven, CT 06562, USA
    J Inherit Metab Dis 33:769-74. 2010
  2. pmc Reducing selection bias in case-control studies from rare disease registries
    J Alexander Cole
    Biomedical Data Sciences and Informatics, Genzyme, a Sanofi Company, 500 Kendall Street, Cambridge, MA 02142, USA
    Orphanet J Rare Dis 6:61. 2011
  3. ncbi request reprint Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy
    Pramod K Mistry
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 77:91-8. 2002
  4. pmc Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults
    Pramod K Mistry
    Yale University School of Medicine, PO Box 208064, LMP 4093, New Haven, CT 06520, USA
    Blood Cells Mol Dis 46:66-72. 2011
  5. pmc A reappraisal of Gaucher disease-diagnosis and disease management algorithms
    Pramod K Mistry
    Department of Pediatrics and Medicine, Yale University, New Haven, Connecticut 06562, USA
    Am J Hematol 86:110-5. 2011
  6. pmc Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
    Pramod K Mistry
    Department of Pediatrics, Yale School of Medicine, New Haven, CT 06562, USA
    Proc Natl Acad Sci U S A 107:19473-8. 2010
  7. pmc Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
    Pramod K Mistry
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Br J Haematol 147:561-70. 2009
  8. ncbi request reprint Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention
    Pramod K Mistry
    Department of Pediatric Gastroenterology and Hepatology, Yale University, School of Medicine, New Haven, Connecticut 06520, USA
    Am J Hematol 82:697-701. 2007
  9. pmc The risk of Parkinson's disease in type 1 Gaucher disease
    Gilberto Bultron
    Department of Pediatrics and Internal Medicine, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520 8064, USA
    J Inherit Metab Dis 33:167-73. 2010
  10. pmc Gaucher disease gene GBA functions in immune regulation
    Jun Liu
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA
    Proc Natl Acad Sci U S A 109:10018-23. 2012

Research Grants

  1. POR In Inherited Metabolic Liver Diseases
    Pramod Mistry; Fiscal Year: 2007

Collaborators

Detail Information

Publications28

  1. pmc Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
    Philip Stein
    Department of Pediatrics, National Gaucher Disease Treatment Center, Yale University School of Medicine, 333 Cedar Street, LMP 4093, New Haven, CT 06562, USA
    J Inherit Metab Dis 33:769-74. 2010
    ..Moreover, occurrences of FSL coincide with more severe manifestations of GD1 such as avascular osteonecrosis...
  2. pmc Reducing selection bias in case-control studies from rare disease registries
    J Alexander Cole
    Biomedical Data Sciences and Informatics, Genzyme, a Sanofi Company, 500 Kendall Street, Cambridge, MA 02142, USA
    Orphanet J Rare Dis 6:61. 2011
    ..Data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry were used as an example...
  3. ncbi request reprint Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy
    Pramod K Mistry
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Mol Genet Metab 77:91-8. 2002
    ..e., asplenia and female sex). Splenectomy should be avoided and in high-risk patients, ERT+/-vasodilators/coumadin should be initiated...
  4. pmc Osteopenia in Gaucher disease develops early in life: response to imiglucerase enzyme therapy in children, adolescents and adults
    Pramod K Mistry
    Yale University School of Medicine, PO Box 208064, LMP 4093, New Haven, CT 06520, USA
    Blood Cells Mol Dis 46:66-72. 2011
    ..It is also unclear if the degree of improvement in osteopenia, secondary to imiglucerase enzyme therapy, differs by the age of the patient...
  5. pmc A reappraisal of Gaucher disease-diagnosis and disease management algorithms
    Pramod K Mistry
    Department of Pediatrics and Medicine, Yale University, New Haven, Connecticut 06562, USA
    Am J Hematol 86:110-5. 2011
    ..To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease...
  6. pmc Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
    Pramod K Mistry
    Department of Pediatrics, Yale School of Medicine, New Haven, CT 06562, USA
    Proc Natl Acad Sci U S A 107:19473-8. 2010
    ..This study provides direct evidence for the involvement in GD1 of multiple cell lineages, suggesting that cells other than macrophages may be worthwhile therapeutic targets...
  7. pmc Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
    Pramod K Mistry
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Br J Haematol 147:561-70. 2009
    ..A higher risk of AVN was observed among patients who had previously undergone splenectomy...
  8. ncbi request reprint Consequences of diagnostic delays in type 1 Gaucher disease: the need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention
    Pramod K Mistry
    Department of Pediatric Gastroenterology and Hepatology, Yale University, School of Medicine, New Haven, Connecticut 06520, USA
    Am J Hematol 82:697-701. 2007
    ..Our findings suggest that physician education will increase the likelihood of prompt detection of GD and improve its management with ERT with imiglucerase when indicated...
  9. pmc The risk of Parkinson's disease in type 1 Gaucher disease
    Gilberto Bultron
    Department of Pediatrics and Internal Medicine, Yale University School of Medicine, 333 Cedar Street, PO Box 208064, New Haven, CT 06520 8064, USA
    J Inherit Metab Dis 33:167-73. 2010
    ..All but one patient with GD1/PD phenotype had at least one N370S GBA1 allele. In conclusion, compared to the general population, patients with GD1 have an almost 20-fold increased life-time risk of developing PD...
  10. pmc Gaucher disease gene GBA functions in immune regulation
    Jun Liu
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA
    Proc Natl Acad Sci U S A 109:10018-23. 2012
    ..The results not only point to a fundamental role for GBA in immune regulation but also suggest that GBA mutations in GD may cause widespread immune dysregulation through the accumulation of substrates...
  11. pmc Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation
    Clarence K Zhang
    Keck Biotechnology Laboratory Biostatistics Resource, Yale University School of Medicine, New Haven, CT 06520, USA
    Am J Hematol 87:377-83. 2012
    ..Taken together, CLN8 is a candidate modifier gene for GD1 that may function as a protective sphingolipid sensor and/or in glycosphingolipid trafficking. Future studies should explore the role of CLN8 in pathophysiology of GD...
  12. pmc The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
    Tamar H Taddei
    Department of Medicine, Yale School of Medicine, New Haven, Connecticut 06520 8064, USA
    Am J Hematol 84:208-14. 2009
    ..High incidence of gammopathy suggests an important role of the adaptive immune system in the development of GD. Adult patients with GD should be monitored for skeletal disease and cancers including multiple myeloma...
  13. pmc Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice
    Tony Yuen
    The Mount Sinai Bone Program, Mount Sinai School of Medicine, NY, USA
    Biochem Biophys Res Commun 422:573-7. 2012
    ..Most notably, two compounds with anti-helminthic properties, namely albendazole and oxamniquine, were identified; these are particularly relevant for future testing as the expression of chitinases is enhanced in GD1...
  14. pmc High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
    Tamar H Taddei
    Department of Medicine, Yale School of Medicine, New Haven, CT 06562, USA
    J Inherit Metab Dis 33:291-300. 2010
    ..We assessed the prevalence of GS, their chemical composition, biliary lipids, and associated metabolic factors...
  15. pmc Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis
    Sarah M Lo
    Section of Pediatric Hematology Oncology, Department of Pediatrics, Yale School of Medicine, 333 Cedar St, New Haven, CT 06520, USA
    Blood 119:4731-40. 2012
    ..Therefore, precise phenotype annotation followed by individual genome analysis has the potential to identify genetic modifiers of GD, facilitate personalized management, and provide novel insights into disease pathophysiology...
  16. pmc Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity
    Philip Stein
    Department of Pediatrics, National Gaucher Disease Treatment Center, Yale University School of Medicine, New Haven, CT 06562, USA
    J Inherit Metab Dis 34:429-37. 2011
    ..These findings suggest HDL cholesterol merits inclusion within the "biomarker basket" for monitoring of patients with GD1...
  17. pmc Expanding spectrum of the association between Type 1 Gaucher disease and cancers: a series of patients with up to 3 sequential cancers of multiple types--correlation with genotype and phenotype
    Sarah M Lo
    Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut 06520 8064, USA
    Am J Hematol 85:340-5. 2010
    ..We found an association between splenectomy and multiple cancers in GD1. It will be of interest to determine whether timely ERT and declining rates of splenectomy will translate into declining rates of multiple and single cancers...
  18. pmc Hyperferritinemia and iron overload in type 1 Gaucher disease
    Philip Stein
    Department of Pediatrics, Yale School of Medicine, 333 Cedar Street, New Haven, CT 06520, USA
    Am J Hematol 85:472-6. 2010
    ..There is a high prevalence of hyperferritinemia in Type 1 Gaucher disease that is associated with indicators of disease severity, reversed by ERT and is not related to HFE mutations...
  19. pmc Risk factors associated with biliary pancreatitis in children
    Michael H Ma
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520, USA
    J Pediatr Gastroenterol Nutr 54:651-6. 2012
    ....
  20. pmc Correlation of MRI-Based bone marrow burden score with genotype and spleen status in Gaucher's disease
    Robert F DeMayo
    Department of Radiology, Yale University School of Medicine, 333 Cedar St, PO Box 208042, New Haven, CT 06520 8042, USA
    AJR Am J Roentgenol 191:115-23. 2008
    ....
  21. pmc Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy
    Sarah Michelman Lo
    Section of Hematology Oncology, Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    J Inherit Metab Dis 34:643-50. 2011
    ..In some patients, HPS precedes PAH. BMPR2 and ALK1 appear not be modifier genes for this rare phenotype of GD. ERT +/- adjuvant therapy improves prognosis of this devastating GD phenotype...
  22. doi request reprint Calcium ameliorates diarrhea in immunocompromised children
    Sam X Cheng
    Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA
    J Pediatr Gastroenterol Nutr 56:641-4. 2013
    ..Herein, we report 3 immunocompromised children who developed severe and/or protracted infectious diarrhea. Their diarrheas were successfully "halted" within 1 to 2 days following the administration of calcium...
  23. ncbi request reprint Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism
    Pramod K Mistry
    Pediatric Gastroenterology and Hepatology, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Crit Rev Oncog 18:235-46. 2013
    ....
  24. ncbi request reprint Disease state awareness in Gaucher disease: a Q&A expert roundtable discussion
    Pramod K Mistry
    Yale University School of Medicine, New Haven, Connecticut, USA
    Clin Adv Hematol Oncol 10:1-16. 2012
    ..Therefore, hematology and oncology clinicians need to be aware of the potential for Gaucher disease and consider it in their differential diagnosis...
  25. pmc Protease activation during in vivo pancreatitis is dependent on calcineurin activation
    Ahsan U Shah
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA
    Am J Physiol Gastrointest Liver Physiol 297:G967-73. 2009
    ..05). These data suggest that PP2B is an important target of the aberrant acinar cell Ca(2+) rise associated with pathological protease activation and pancreatitis...
  26. pmc Misdiagnosis of Niemann-Pick disease type C as Gaucher disease
    Sarah M Lo
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    J Inherit Metab Dis 33:S429-33. 2010
    ..Prompt diagnosis will become increasingly important as effective therapies are developed for NPC. ..
  27. ncbi request reprint Therapeutic goals in the treatment of Gaucher disease
    Gregory M Pastores
    Neurology in Pediatrics, Neurgenetics Unit, Department of Neurology, New York University School of Medicine, NY, USA
    Semin Hematol 41:4-14. 2004
    ..Here we establish goals of treatment in Gaucher disease and propose a comprehensive schedule of monitoring of all relevant aspects to confirm the achievement, maintenance, and continuity of the therapeutic response...
  28. doi request reprint Prevalence of type 1 Gaucher disease in the United States
    Neal J Weinreb
    Arch Intern Med 168:326-7; author reply 327-8. 2008

Research Grants2

  1. POR In Inherited Metabolic Liver Diseases
    Pramod Mistry; Fiscal Year: 2007
    ..This training program is supported by Liver T32 DK 07356. ..