10 results on '"Ravnit Grewal"'
Search Results
2. Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report
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Brigitte Glanzmann, Marlo Möller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser, and Craig J. Kinnear
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Wiskott-Aldrich syndrome ,Exome sequencing ,Primary immunodeficiency diseases ,Internal medicine ,RC31-1245 ,Genetics ,QH426-470 - Abstract
Abstract Background The X-linked recessive primary immunodeficiency disease (PIDD) Wiskott-Aldrich syndrome (WAS) is identified by an extreme susceptibility to infections, eczema and thrombocytopenia with microplatelets. The syndrome, the result of mutations in the WAS gene which encodes the Wiskott-Aldrich protein (WASp), has wide clinical phenotype variation, ranging from classical WAS to X-linked thrombocytopaenia and X-linked neutropaenia. In many cases, the diagnosis of WAS in first affected males is delayed, because patients may not present with the classic signs and symptoms, which may intersect with other thrombocytopenia causes. Case presentation Here, we describe a three-year-old HIV negative boy presenting with recurrent infections, skin rashes, features of autoimmunity and atopy. However, platelets were initially reported as normal in numbers and morphology as were baseline immune investigations. An older male sibling had died in infancy from suspected immunodeficiency. Uncertainty of diagnosis and suspected severe PIDD prompted urgent further molecular investigation. Whole exome sequencing identified c. 397 G > A as a novel hemizygous missense mutation located in exon 4 of WAS. Conclusion With definitive molecular diagnosis, we could target treatment and offer genetic counselling and prenatal diagnostic testing to the family. The identification of novel variants is important to confirm phenotype variations of a syndrome.
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- 2020
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3. Chronic lymphocytic leukaemia trends and features at a tertiary hospital in South Africa (2011–2016)
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Fungai Musaigwa, Ravnit Grewal, Akin Abayomi, and Carmen C. Swanepoel
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chronic lymphocytic leukaemia ,cll ,diagnosis ,incidence ,cytogenetics ,hiv ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Background: Chronic lymphocytic leukaemia (CLL) is a common lymphoproliferative disorder in developed countries. However, this condition is rare in Africa and there is a paucity of information on CLL, specifically on the continent. Aim: This study described, retrospectively, the frequency, demographics and laboratory features of CLL cases diagnosed from 2011 to 2016. Setting: Department of Pathology, National Health Laboratory Service, Tygerberg Academic Hospital, Cape Town. Methods: A retrospective analysis was performed for all CLL diagnoses made between 01 January 2011 and 31 December 2016. Results: Eighty CLL cases were diagnosed between 2011 and 2016. Men and women presented with the disease equally (48.8% vs. 51.2%, p 0.05). The mean age at diagnosis was 66.79 years (range of 37–95 years) and the modal age range (36.3%) was 60–69 years. Men presented with the disease at a significantly younger age than women (mean = 64 years vs. mean = 69.5 years, p 0.05). There were three (3.75%) human immunodeficiency virus (HIV)-positive patients (age range 43–50 years). Chromosome 13q14 deletion was found in 6 out of 19 patients (31.6%). Trisomy 12 and deletion 11q22 were found in 5 out of 21 (24%) and 7 out of 21 (33.3%) patients, respectively. Deletions 13q34 and 17p were negative for 6 and 20 patients, respectively. Conclusion: Chronic lymphocytic leukaemia at our facility presented equally in men and women. Men presented with the disease at a younger age than women. Additionally, our findings suggested that HIV is uncommon amongst CLL patients tested for HIV.
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- 2021
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4. Minimal residual disease in chronic lymphocytic leukemia: A consensus paper that presents the clinical impact of the presently available laboratory approaches
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Anna Vischer, Ciprian Tomuleasa, Bobe Petrushev, Horia Bumbea, Sergiu Pasca, Delia Dima, Ravnit Grewal, Sonia Cismas, Sonia Selicean, Mirela Marian, Vlad Moisoiu, Alina Tanase, Laura Pop, Anca Jurj, Ioana Berindan-Neagoe, Wilhelm-Thomas Micu, Cristina Selicean, Mihnea Zdrenghea, Kanza Arifeen, and Carmen Aanei
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Oncology ,medicine.medical_specialty ,Consensus ,Neoplasm, Residual ,Chronic lymphocytic leukemia ,Clinical Biochemistry ,Antineoplastic Agents ,Translational research ,Disease ,Malignancy ,General Biochemistry, Genetics and Molecular Biology ,03 medical and health sciences ,0302 clinical medicine ,hemic and lymphatic diseases ,Internal medicine ,medicine ,Humans ,Clinical significance ,business.industry ,Biochemistry (medical) ,High-Throughput Nucleotide Sequencing ,Flow Cytometry ,medicine.disease ,Leukemia, Lymphocytic, Chronic, B-Cell ,Minimal residual disease ,body regions ,medicine.anatomical_structure ,Molecular Diagnostic Techniques ,030220 oncology & carcinogenesis ,Prognostics ,Bone marrow ,business ,030215 immunology - Abstract
Chronic lymphocytic leukemia (CLL) is a malignancy defined by the accumulation of mature lymphocytes in the lymphoid tissues, bone marrow, and blood. Therapy for CLL is guided according to the Rai and Binet staging systems. Nevertheless, state-of-the-art protocols in disease monitoring, diagnostics, and prognostics for CLL are based on the assessment of minimal residual disease (MRD). MRD is internationally considered to be the level of disease that can be detected by sensitive techniques and represents incomplete treatment and a probability of disease relapse. MRD detection has been continuously improved by the quick development of both flow cytometry and molecular biology technology, as well as by next-generation sequencing. Considering that MRD detection is moving more and more from research to clinical practice, where it can be an independent prognostic marker, in this paper, we present the methodologies by which MRD is evaluated, from translational research to clinical practice.
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- 2018
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5. The role of the pathology department in the preanalytical phase of molecular analyses
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Ciprian Tomuleasa, Bobe Petrushev, Cristian Berce, Ioan Stefan Florian, Carmen-Mihaela Mihu, Lucian Craciun, Radu Pirlog, Ravnit Grewal, Ioana Berindan-Neagoe, and Sergiu Susman
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0301 basic medicine ,Pathology ,medicine.medical_specialty ,fixation ,business.industry ,Methodology ,Genomics ,Proteomics ,freezing ,proteins ,03 medical and health sciences ,nucleic acids ,030104 developmental biology ,0302 clinical medicine ,Oncology ,Cancer Management and Research ,030220 oncology & carcinogenesis ,medicine ,Molecular Profile ,business ,molecular techniques - Abstract
Sergiu Susman,1,2 Ioana Berindan-Neagoe,3 Bobe Petrushev,3 Radu Pirlog,2 Ioan-Stefan Florian,4 Carmen-Mihaela Mihu,2 Cristian Berce,3 Lucian Craciun,2 Ravnit Grewal,5 Ciprian Tomuleasa3,6,7 1Department of Pathology, Imogen Research Center, 2Department of Morphological Sciences, 3Research Center for Functional Genomics and Translational Medicine, 4Department of Neurosurgery, Iuliu Hatieganu University of Medicine and Pharmacy, 5Department of Hematology, Ion Chiricuta Oncology Institute, 6Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; 7Department of Haematopathology, Tygerberg Academic Hospital, Tygerberg, South Africa Abstract: After introducing the new molecules for the treatment of patients with tumoral pathology, the therapeutical decision will be taken depending on the molecular profile performed upon the harvested tissues. This major modification makes the molecular and morphological analysis an essential part in the clinical management of patients and the pathologist plays an important role in this process. The quality and reproducibility of the results are imperative today and they depend on both the reliability of the molecular techniques and the quality of the tissue we use in the process. Also, the genomics and proteomics techniques, used increasingly often, require high-quality tissues, and pathology laboratories play a very significant role in the management of all phases of this process. In this paper the parameters which must be followed in order to obtain optimal results within the techniques which analyze nucleic acids and proteins were reviewed. Keywords: nucleic acids, proteins, fixation, freezing, molecular techniques
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- 2018
6. Castleman’s Disease in the HIV-Endemic Setting [Retraction]
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Ciprian Tomuleasa, Ravnit Grewal, Minodora-Silvia Desmirean, Emmanuel-Akinola Abayomi, Candice Sher-Locketz, and Esam-Rajab Mahroug
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Pediatrics ,medicine.medical_specialty ,Oncology ,business.industry ,Human immunodeficiency virus (HIV) ,Medicine ,Disease ,business ,medicine.disease_cause - Published
- 2020
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7. The role of microRNAs in the pathogenesis of HIV-related lymphomas
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Andrei Cucuianu, Bogdan Pop, Ravnit Grewal, Ciprian Tomuleasa, Bobe Petrushev, Emmanuel Akin Abayomi, Ioana Berindan-Neagoe, Carmen Swanepoel, and Delia Dima
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Carcinogenesis ,Chronic lymphocytic leukemia ,Clinical Biochemistry ,Population ,Biology ,medicine.disease_cause ,Models, Biological ,General Biochemistry, Genetics and Molecular Biology ,Pathogenesis ,Immunocompromised Host ,microRNA ,Gene expression ,Tumor Microenvironment ,medicine ,Animals ,Humans ,education ,Immunologic Surveillance ,Lymphoma, AIDS-Related ,Tumor microenvironment ,education.field_of_study ,Biochemistry (medical) ,Prognosis ,medicine.disease ,Gene Expression Regulation, Neoplastic ,MicroRNAs ,medicine.anatomical_structure ,Immunology ,Cancer research ,Bone marrow ,Biomarkers - Abstract
The incidence of HIV-related lymphomas (HRLs) is increased by 60-100 times in patients with HIV. When compared to the general population, patients with HRLs often present with extranodal lymphoid proliferation, most frequently of the gastrointestinal tract, central nervous system, liver and bone marrow. MicroRNAs (miRs) are non-coding double-stranded RNA molecules of 18-25 nucleotides that regulate post-translational gene expression by inhibiting translation or promoting degradation of messenger RNA complementary sequences. Before their discovery, tumorigenesis was thought to have been caused by the alteration of protein-coding oncogenes and tumor-suppressor genes, but once identified in B-cell chronic lymphocytic leukemia, miRs function as either oncogenes or tumor-suppressor genes was confirmed in different types of malignancies. Since miRs are clearly involved in tumorigenesis in many cancers, their role in HRLs is now receiving attention. A few studies have been conducted thus far in some HRLs on the involvement of miR in the pathogenesis of lymphoid malignancies. Since B-cell lymphomas arise from various stages of B-cell development in both HIV-infected and HIV-naïve patients, investigators have tried to determine the different miR signatures in B-cell development. As classic immunohistochemistry staining is sometimes not enough for the differential diagnosis of HRLs, in the present review, we have described the potential use of miRs in the prognosis and diagnosis of these diseases.
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- 2015
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8. Challenges of Biobanking in South Africa to Facilitate Indigenous Research in an Environment Burdened with Human Immunodeficiency Virus, Tuberculosis, and Emerging Noncommunicable Diseases
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Catherine Rossouw, Alan Christoffels, Ciara Staunton, Beverley van Rooyen, Locunda A. Karam, Ravnit Grewal, Akin Abayomi, and Carmen Swanepoel
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medicine.medical_specialty ,Economic growth ,Biomedical Research ,Tuberculosis ,Special Section on Biobanking in Emerging Countries ,Operating procedures ,Preservation, Biological ,Human immunodeficiency virus (HIV) ,Medicine (miscellaneous) ,HIV Infections ,medicine.disease_cause ,General Biochemistry, Genetics and Molecular Biology ,Specimen Handling ,South Africa ,Humans ,Medicine ,Metabolic disease ,Biological Specimen Banks ,bellville ,business.industry ,Public health ,Environmental resource management ,Computational Biology ,Indigenous research ,Cell Biology ,General Medicine ,medicine.disease ,Biobank ,Futures studies ,consent ,business - Abstract
The high burden of infectious diseases and the growing problem of noncommunicable and metabolic disease syndromes in South Africa (SA) forces a more focused research approach to facilitate cutting-edge scientific growth and public health development. Increased SA research on these diseases and syndromes and the collection of associated biospecimens has ensured a plethora of biobanks created by individuals, albeit without the foresight of prospective and collective use by other local and international researchers. As the need for access to high-quality specimens in statistically relevant numbers has increased, so has the necessity for the development of national human biobanks in SA and across the Continent. The prospects of achieving sustainable centralized biobanks are still an emerging and evolving concept, primarily and recently driven by the launch of the H3Africa consortium, which includes the development of harmonized and standardized biobanking operating procedures. This process is hindered by a myriad of complex societal considerations and ethico-legal challenges. Efforts to consolidate and standardize biological sample collections are further compromised by the lack of full appreciation by national stakeholders of the biological value inherent in these collections, and the availability of high quality human samples with well-annotated data for future scientific research and development. Inadequate or nonexistent legislative structures that specifically regulate the storage, use, dispersal, and disposal of human biological samples are common phenomena and pose further challenges. Furthermore, concerns relating to consent for unspecified future uses, as well as access to information and data protection, are all new paradigms that require further consideration and public engagement. This article reviews important fundamental issues such as governance, ethics, infrastructure, and bioinformatics that are important foundational prerequisites for the establishment and evolution of successful human biobanking in South Africa.
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- 2013
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9. Impact of the HIV epidemic and Anti-Retroviral Treatment policy on lymphoma incidence and subtypes seen in the Western Cape of South Africa, 2002–2009: Preliminary findings of the Tygerberg Lymphoma Study Group
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Peter Jacobs, C. Stefan, Ravnit Grewal, A. Somers, E. A. Abayomi, Gerhard Sissolak, Leona W. Ayers, Fatima Bassa, and Deborah J Maartens
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Pediatrics ,medicine.medical_specialty ,Lymphoma ,Anti-HIV Agents ,Population ,Follicular lymphoma ,HIV Infections ,Article ,South Africa ,immune system diseases ,hemic and lymphatic diseases ,HIV Seropositivity ,medicine ,Humans ,Epidemics ,education ,education.field_of_study ,business.industry ,Health Policy ,Incidence ,Incidence (epidemiology) ,Large-cell lymphoma ,Hematology ,medicine.disease ,Peripheral T-cell lymphoma ,Communicable Disease Control ,Immunology ,Public Health ,Primary effusion lymphoma ,business ,Plasmablastic lymphoma - Abstract
The Tygerberg Lymphoma Study Group was constituted in 2007 to quantify the impact of HIV on the pattern and burden of lymphoma cases in the Western Cape of South Africa which currently has an HIV prevalence of 15%. South Africa has had an Anti-Retroviral Treatment (ART) policy and roll out plan since 2004 attaining 31% effective coverage in 2009. This study is designed to qualify and establish what impact the HIV epidemic and the ARV roll-out treatment program is having on the incidence of HIV related Lymphoma (HRL). Early data documents that despite the ART roll out, cases of HRL are increasing in this geographical location, now comprising 37% of all lymphomas seen in 2009 which is an increase from 5 % in 2002. This is in contrast to trends seen in developed environments following the introduction of ART. Also noted, are the emergence of subtypes not previously seen in this location such as Burkitt and plasmablastic lymphomas. Burkitt lymphoma is now the commonest HRL seen in this population followed by diffuse large B Cell lymphoma subtypes. The reasons for this observed increase in HRL is not ascribable to improved diagnostic capacity as the tertiary institute in which these diagnosis are made, has had significant expertise in this regard for over a decade. We ascribe this paradoxical finding to an ART treatment environment that is ineffective for a diversity of reason, paramount of which are poor coverage, late commencement of ART and incomplete viral suppression.
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- 2011
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10. A107 Lymphoma incidence and HIV-related lymphoma subtypes seen at Tygerberg Academic Hospital, Western Cape, South Africa, 2002-2011
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Akin Abayomi, Ravnit Grewal, Fatima Bassa, and Linda Stephens
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medicine.medical_specialty ,business.industry ,Incidence (epidemiology) ,Human immunodeficiency virus (HIV) ,medicine.disease ,medicine.disease_cause ,Lymphoma ,Infectious Diseases ,Internal medicine ,Immunology ,medicine ,Western cape ,Pharmacology (medical) ,business - Published
- 2013
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