Papers by Chandre Oosterwyk
Expert Review of Hematology, Feb 25, 2022
OBJECTIVES Blood pressure (BP) values ≥ 120/70 mmHg considerably increase the risk for pulmonary ... more OBJECTIVES Blood pressure (BP) values ≥ 120/70 mmHg considerably increase the risk for pulmonary hypertension and renal dysfunction in Sickle Cell Disease (CSD) patients, and ultimately increased morbidity and mortality. This has led to the development of the term relative systemic hypertension (RSH). RSH was defined as Systolic BP 120-139 mm Hg or diastolic BP 70-89 mm Hg, whereas systemic hypertension is defined as Systolic BP ≥ 140 mm Hg or diastolic BP ≥90 mm Hg. Systematic identification of BP variations and risk factors in SCD patients could promote effective management. This review aimed to identify factors associated with BP variation among SCD patients. METHODS We searched PubMed, Scopus, Web of Science and Google Scholar up to December 2020 with no geographical or language restrictions. Two reviewers independently screened, and summarized data from eligible studies. RESULTS Advancing age, gender, higher body weight, haemoglobin, eGFR, triglycerides, greater heamatocrit, higher blood viscosity, history of blood transfusion, and targeted variants in DRD2 and MIR4301 genes were independently associated with the risk of hypertension in SCD patients. CONCLUSION Interventions that consider these risk factors may potentially contribute to lower BP pressure in SCD patients and prevent developing severe complications.
OMICS: A Journal of Integrative Biology, 2020
Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. O... more Sickle cell disease (SCD) is one of the most common blood disorders impacting planetary health. Over 300,000 newborns are diagnosed with SCD each year globally, with an increasing trend. The sickle cell disease ontology (SCDO) is the most comprehensive multidisciplinary SCD knowledge portal. The SCDO was collaboratively developed by the SCDO working group, which includes experts in SCD and data standards from across the globe. This expert review presents highlights and lessons learned from the fourth SCDO workshop that marked the beginning of applications toward planetary health impact, and with an eye to empower and cultivate multisite SCD collaborative research. The workshop was organized by the Sickle Africa Data Coordinating Center (SADaCC) and attended by 44 participants from 14 countries, with 2 participants connecting remotely. Notably, from the standpoint of democratizing and innovating scientific meeting design, an SCD patient advocate also presented at the workshop, giving a broader real-life perspective on patients' aspirations, needs,
BDJ Open
Introduction Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autoso... more Introduction Pyle Disease (PD), or familial metaphyseal dysplasia [OMIM 265900], is a rare autosomal recessive condition leading to widened metaphyses of long bones and cortical bone thinning and genu valgum. We detail the oro-dental and molecular findings in a South African patient with PD. Methods The patient underwent clinical, radiographic and molecular examinations. An exfoliated tooth was analysed using scanning electron microscopy and was compared to a control tooth. Results The patient presented with marked Erlenmeyer-flask deformity (EFD) of the long bones and several Wormian bones. His dental development was delayed by approximately three years. The permanent molars were mesotaurodontic. The bones, including the jaws and cervical vertebrae, showed osteoporotic changes. The lamina dura was absent, and the neck of the condyle lacked normal constrictions. Ionic component analysis of the primary incisors found an absence of magnesium. Sanger sequencing revealed a novel putativ...
Journal of Molecular Pathology
This study describes the roles of laboratory information management systems (LIMS) in multi-site ... more This study describes the roles of laboratory information management systems (LIMS) in multi-site genetics studies in Africa. We used the HiGeneS Africa project as a case study. The study participants were recruited in six African countries between 2019 to 2021. The Baobab LIMS, a server–client-based system (an African-led innovation) was used for the coordination of the biospecimen. The development phase of the LIMS showcased the team formation, data collection, biospecimen collection, and shipment strategies. The implementation phase showcased the biospecimen registration, processing, and quality control (QC) analytics. The sample QC was done using Nanodrop, Qubit, and PicoGreen/gDNATapestation assays. The results showed that a total of 3144 study participants were recruited from Cameroon, Ghana, Mali, Rwanda, Senegal, and South Africa. The biospecimen registration provided a comprehensive registry that included patient demographics, genetic information, and clinical and blood/sali...
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Papers by Chandre Oosterwyk