Infection and myelodysplasia: A case report of GATA2 deficiency in a South African patient.

Rare diseases often result in delays in diagnosis. It is important to recognize conditions that have features of both inborn errors of immunity and predispose to myeloid neoplasia. Here we report a patient with GATA2 deficiency that presented with disseminated non-tuberculous mycobacterial infection and pancytopenia secondary to myelodysplastic syndrome.

An Endotracheal Plasmablastic Lymphoma.

We describe an exceptionally rare case of a male patient with newly diagnosed advanced human immunodeficiency virus (HIV) infection, who presented with a plasmablastic lymphoma involving the right maxillary alveolar ridge with associated cervical lymphadenopathy. On a staging positron emission tomography computed tomography (PET-CT) scan, he was incidentally found to have an endotracheal tumour involving the anterolateral aspect of the mid-trachea. The tumour appeared to be well-vascularised at bronchoscopy and was confirmed as well-differentiated plasmablastic lymphoma. Plasmablastic lymphoma is a rare form of non-Hodgkin lymphoma and is associated with HIV. Tracheal involvement to the extent seen in our patient is exceptionally rare, and, to the best of our knowledge, has never been described.

Negotiating Requests for Reimbursement for Community Engagement: Challenges in Developing an Educational Video for Genomic Biobanking Research in South Africa.

Genomic research and the biobanking capacity it requires are experiencing considerable growth on the continent of Africa. However genomic research and biobanking raise a range of legal, ethical, social, and cultural issues, including concerns about broad consent, confidentiality, community stigmatization, discrimination, indefinite storage, and long-term use. There is a need to establish governance frameworks that address these issues, and many international health research ethics and biobanking guidelines now recommend that the best way to do so is by involving potential research participants and key community stakeholders in the research development and the process of acquiring samples and data through active community engagement (CE). This article describes the experience and challenges in developing an educational tool as part of a CE initiative in South Africa and the commentaries reflect on how this process may be improved going forward.

HIV-associated thrombotic thrombocytopaenic purpura: A retrospective cohort study during the anti-retroviral therapy era.

BACKGROUND: HIV-associated thrombotic thrombocytopaenic purpura (TTP) is thought to represent the majority of current TTP diagnoses in South Africa (SA). AIM: The primary aim was to describe the clinical features and compare the time to remission of TTP in those patients with and without HIV. DESIGN: A retrospective cohort study conducted at Tygerberg Hospital in Cape Town, SA for the period January 1, 2010 to January 31, 2015. METHODS: All adult patients requiring ≥5 units of plasma products for ≥1 day during hospitalization were screened for a diagnosis of TTP. Those with a reported clinical diagnosis and/or laboratory evidence of TTP were included in the final analysis. RESULTS: A total of 52 cases were identified of which 78.8% were HIV-infected. Time to remission was 10 days in the HIV group vs 19 days in the HIV negative group, P = 0.07. Most of the patients were Black females. Fever was more common in those with HIV. Neurological features were common in both groups. The majority in the HIV group was managed exclusively with plasma infusion alone (90.2% vs 45.5%, P < 0.01). There were no differences in the time to remission regardless of treatments received. Anti-retroviral therapy initiation during hospitalization was a predictor for remission. Overall mortality rate was 44.2%. CONCLUSION: There was no difference in the time to remission in patients with HIV-associated TTP as compared with HIV negative TTP. The high mortality was probably the result of less intensive plasma infusion and therapeutic plasma exchange regimens.

A preliminary review of warfarin toxicity in a tertiary hospital in Cape Town, South Africa.

AIM: Warfarin is a widely used anticoagulant for the prevention and treatment of thromboembolism. We conducted a retrospective review to determine the causes and management of warfarin toxicity of patients admitted to Tygerberg hospital between June 2014 and June 2015. RESULTS: We identified and evaluated 126 patients who met the inclusion criteria. The cause of warfarin toxicity was identified and addressed in only 14.3% (18/126) of patients. Where the cause was identified, 56% (10/18) was due to dosing errors and 17% (3/18) drug-drug interaction (DDI). However, 77% (97/126) of patients were retrospectively identified as receiving concomitant medicines known to interact with warfarin at the time of admission. Twenty-eight percent (35/126) of patients presented with major bleeding, which included seven cases of intracranial haemorrhage. Patients were admitted for a median of eight days at an average treatment cost of R10 578. CONCLUSION: We found that warfarin toxicity carries significant mortality and cost, but little attention is paid to the causes of toxicity.