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Your search keyword '"Thomas Fourie"' showing total 4 results
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4 results on '"Thomas Fourie"'

1. Hb Calgary (

Author

Georgina, Martin, Runa M, Grimholt, Doan, Le, Anne G, Bechensteen, Olav, Klingenberg, Bente, Fjeld, Thomas, Fourie, Renee, Perrier, Melanie, Proven, Shirley J, Henderson, and Noémi B A, Roy

Subjects
Heterozygote, Phenotype, Hemoglobins, Abnormal, beta-Thalassemia, Humans, beta-Globins
Abstract

We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (

Published
2021

2. Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype

Author

Anne Grete Bechensteen, Doan Le, Renee Perrier, Thomas Fourie, Bente Fjeld, Shirley Henderson, Melanie Proven, Noémi B. A. Roy, Runa M. Grimholt, Olav Klingenberg, and Georgina Martin

Subjects
medicine.diagnostic_test, Anemia, business.industry, Biochemistry (medical), Clinical Biochemistry, Hematology, medicine.disease, Phenotype, Immunology, Transfusion dependence, medicine, Missense mutation, business, Gene, β thalassemia major, Genetics (clinical), Unstable hemoglobin, Genetic testing
Abstract

We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (HBB: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molecular pathogenesis is a missense variation on the β-globin gene, presumed to lead to an unstable Hb. The phenotype of Hb Calgary is particularly severe presenting as transfusion-dependent anemia in early infancy, precluding phenotypic diagnosis and highlighting the importance of early genetic testing in order to make an accurate diagnosis.

Published
2021

3. Bortezomib and melphalan conditioning increases the rate of complete response and MRD negativity for patients with multiple myeloma undergoing single autologous stem cell transplant

Author

Joanne Luider, Paola Neri, Nizar J. Bahlis, Karen Murray, Marcia Culham, Ahsan Chaudhry, Victor H Jimenez-Zepeda, Thomas Fourie, Fariborz Rashid-Kolvear, and Peter Duggan

Subjects
0301 basic medicine, Melphalan, Oncology, Cancer Research, medicine.medical_specialty, Neoplasm, Residual, Transplantation Conditioning, MRD Negativity, medicine.medical_treatment, Bortezomib, 03 medical and health sciences, 0302 clinical medicine, Text mining, immune system diseases, hemic and lymphatic diseases, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Complete response, Multiple myeloma, Chemotherapy, business.industry, Hematopoietic Stem Cell Transplantation, Hematology, medicine.disease, surgical procedures, operative, 030104 developmental biology, Treatment Outcome, 030220 oncology & carcinogenesis, Stem cell, business, Multiple Myeloma, therapeutics, human activities, medicine.drug
Abstract

The role of high-dose chemotherapy (HDC) followed by autologous stem cell transplant (auto-SCT) in the treatment of MM continues to evolve in the era of novel agents. The outcome after auto-SCT is ...

Published
2015

4. Type I Gaucher disease following chemotherapy for light chain multiple myeloma

Author

Brent Schacter, Thomas Fourie, Winson Y. Cheung, Keevin Bernstein, Cheryl R. Greenberg, and Matthew D. Seftel

Subjects
medicine.medical_specialty, Pathology, Nephrotic Syndrome, medicine.medical_treatment, Context (language use), Antineoplastic Agents, Hematopoietic stem cell transplantation, Gastroenterology, Internal medicine, Internal Medicine, medicine, Humans, Multiple myeloma, Chemotherapy, Gaucher Disease, business.industry, Hypergammaglobulinemia, Hematopoietic Stem Cell Transplantation, General Medicine, Middle Aged, medicine.disease, Transplantation, Female, business, Multiple Myeloma, Nephrotic syndrome, Monoclonal gammopathy of undetermined significance
Abstract

Although plasma cell disorders, such as hypergammaglobulinemia and monoclonal gammopathy of undetermined significance (MGUS), are reported to occur at higher incidences in patients with Type I Gaucher disease (GD) than in the normal population, pure light chain multiple myeloma (LCMM) has never been described in this context. Our case is the first to highlight a patient with LCMM who developed clinically apparent GD only following chemotherapy and hematopoietic stem cell transplantation. Renal complications are also exceedingly rare in GD, but nephrotic syndrome is one of the presenting features in this patient. The findings from this case will have important screening and diagnostic implications for both clinicians and patients.

Published
2007

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