Wilms tumour (WT) is a childhood embryonal tumour that is paradigmatic of the intersection between disrupted organogenesis and tumorigenesis. Many WT genes play a critical (non-redundant) role in ...early nephrogenesis. Improving patient outcomes requires advances in understanding and targeting of the multiple genes and cellular control pathways now identified as active in WT development. Decades of clinical and basic research have helped to gradually optimize clinical care. Curative therapy is achievable in 90% of affected children, even those with disseminated disease, yet survival disparities within and between countries exist and deserve commitment to change. Updated epidemiological studies have also provided novel insights into global incidence variations. Introduction of biology-driven approaches to risk stratification and new drug development has been slower in WT than in other childhood tumours. Current prognostic classification for children with WT is grounded in clinical and pathological findings and in dedicated protocols on molecular alterations. Treatment includes conventional cytotoxic chemotherapy and surgery, and radiation therapy in some cases. Advanced imaging to capture tumour composition, optimizing irradiation techniques to reduce target volumes, and evaluation of newer surgical procedures are key areas for future research.
•This study determines and compares the accuracies of various weight estimation methods in children with and without known chronic diseases such as Sickle Cell Disease and Heart Diseases.•The study ...tests some new weight estimation methods in Ghanaian children and shows that these methods are highly accurate among Ghanaian children with and without chronic disease.
The performance of various weight estimation methods in children with sickle cell disease (SCD) and heart disease (HD) has not been studied. We aimed to determine and compare the accuracies of the Broselow, Mercy, PAWPER XL and PAWPER XL-MAC tapes in Ghanaian children with no known chronic diseases (controls), SCD and HD.
We prospectively recruited 631 children (199 with HD, 209 SCD and 223 controls) from the Komfo Anokye Teaching Hospital (KATH). Their weights were estimated using the Broselow, Mercy, PAWPER XL and PAWPER XL-MAC tapes. These estimated weights were compared to measured weight using mean percentage error (MPE), the proportion of weight estimates within ±10% (P10) and ±20% (P20) of measured weight. Bland-Altman limits of agreement (LOA) were determined to assess the precision of weight estimation and agreement with measured weight.
The PAWPER XL, Mercy and PAWPER XL-MAC were the most accurate in all groups of children studied. All methods except the Broselow tape (BT), which performed best in the control group, had their best performance among children with SCD with negligible critical error rates (proportion of children with weight estimates > 20% of their actual weight). The P20 in the various groups of children using the BT were 88.36%, 80.21% and 51.10% respectively in the control, SCD and HD groups. The Mercy, PAWPER XL and PAWPER XL MAC tapes were generally above 90% in all groups.
The Mercy, PAWPER XL and PAWPER XL-MAC tapes performed significantly better than the BT in all groups of children studied. These methods of weight estimation performed best in children with SCD with very little critical error.
Haemoglobin variants and preeclampsia (PE) are associated with adverse fatal events of which oxidative stress may be an underlying factor. Oxidative stress (OS) among preeclamptic women with ...haemoglobin variants has been well established. It is, however, unclear whether haemoglobin variants induce OS to aggravate the risk of adverse foeto-maternal outcomes in pregnant women with preeclampsia. We measured the levels of OS biomarkers and determined the association between haemoglobin variants, and adverse foeto-maternal outcomes among pregnant women with PE.
This multi-centre prospective study recruited 150 PE women from three major health facilities in both Bono and Bono east regions of Ghana from April to December 2019. Haemoglobin variants; HbAS, HbSS, HbSC, HbCC, and HbAC were determined by haemoglobin electrophoresis. OS biomarkers such as malondialdehyde (MDA), catalase (CAT), vitamin C, and uric acid (UA) along with haematological and biochemical parameters were estimated using standard protocol. Adverse pregnancy complications (APCs) such as post-partum haemorrhage (PPH), HELLP (Haemolysis, Elevated liver enzymes, Low platelet count) syndrome, preterm delivery, neonatal intensive care unit (NICU) admission, and neonatal jaundice were recorded.
Of the 150 pregnant women with preeclampsia, the distribution of haemoglobin AA, AS, AC, CC, SS and SC phenotypes were 66.0%, 13.3%, 12.7%, 3.3%, 3.3% and 1.3%, respectively. The most prevalent foeto-maternal outcomes among PE women were NICU admission (32.0%) followed by PPH (24.0%), preterm delivery (21.3%), HELLP syndrome (18.7%), and neonatal jaundice (18.0%). Except for vitamin C level which was significantly higher in patients with at least a copy of Haemoglobin S variant than those with at least a copy of Haemoglobin C variant (5.52 vs 4.55; p = 0.014), levels of MDA, CAT, and UA were not statistically significantly different across the various haemoglobin variants. Multivariate logistic regression model showed that participants with HbAS, HbAC, having at least a copy of S or C and participants with HbCC, SC, SS had significantly higher odds of neonatal jaundice, NICU admission, PPH and HELLP syndrome compared to participants with HbAA.
Reduced levels of vitamin C are common among preeclamptics with at least one copy of the HbC variant. Haemoglobin variants in preeclampsia contribute to adverse foeto-maternal outcomes with Haemoglobin S variants being the most influencing factor for PPH, HELLP, preterm labour, NICU admission, and neonatal jaundice.
Introduction
People with sickle cell disease (SCD) often face stigmatization in Ghana and elsewhere in Africa. Research is needed to understand whether it is necessary to design an SCD stigma ...reduction program in the Ghanaian setting. The aim of this study was to explore the perception of stigmatization for adults with SCD in Kumasi, Ghana.
Methodology
Using in-depth qualitative interviews, researchers conducted a phenomenological study to investigate the perception of stigmatization for people with SCD in Kumasi, Ghana. Snowball and purposive sampling was used to identify the participants.
Results
Participants (n = 12) were mostly female, Akan, and Christian. Researchers categorized three main themes: (a) Feelings of social isolation, (b) Fear of disclosure, and (c) Bullying about physical appearance.
Discussion
The findings highlight the need to develop effective strategies to counteract stigma. Transcultural health care providers can implement stigma reduction interventions that might be applicable throughout Africa where findings are likely to resonate with patients with SCD.
Sickle Cell Disease (SCD) causes significant morbidity and mortality particularly in sub-Saharan Africa (SSA) where it contributes to early childhood deaths. There is need to standardize treatment ...guidelines to help improve overall SCD patient health outcomes. We set out to review existing guidelines on SCD and to set minimum standards for management of SCD for the different referral levels of healthcare.
A standards of care working group (SoC-WG) was established to develop the SoC recommendations. About 15 available SCD management guidelines and protocols were reviewed and themes extracted from them. The first draft was on chosen themes with 64 major headings and subtopics. Using a summarised WHO levels of referral document, we were able to get six different referral levels of healthcare. The highest referral level was the tertiary facilities whilst the lowest level was the home setting. Recommendations for SCD management for the regional, district, sub-districts, health posts and CHPs compounds were also drafted.
The results from this review yielded a guidelines document which had recommendations for management of SCD on 64 topics and subtopic for all the six (6) different referral levels.
Every child with SCD need to receive comprehensive care that is coordinated at each level. This recommendation is unique in terms of the availability of recommendations for different levels of care as compared to the traditional guidelines which is more focused at the tertiary levels. Patients can access care at any of the other lower referral hospitals and be managed with recommendations that are in keeping with institutional resources at that level. When such patients need care that requires expertise that is not available at that level, the recommendations will be to refer to the appropriate referral level where those expertise are available. This encourages patients to have good clinical care nearer their homes but also having access to specialist screening modalities and expertise at the tertiary hospitals if need be. With this, patient are not limited to a specific referral level when interventions cannot be instituted for them.
This SoC recommendations document is a useful material that can be used for consistent standards of treatment in SSA.
Sickle cell disease (SCD) is the most common clinically significant hemoglobinopathy, characterized by painful episodes, anemia, high risk of infection, and other acute and chronic complications. In ...Africa, where the disease is most prevalent, large longitudinal data on patients and their outcomes are lacking. This article describes the experiences of the Kumasi Center for SCD at the Komfo Anokye Teaching Hospital (KCSCD-KATH), a Sickle Pan-African Research Consortium (SPARCO) site and a SickleInAfrica Consortium member, in establishing a SCD registry for the evaluation of the outcomes of patients. It also provides a report of a preliminary analysis of the data. The process of developing the registry database involved comprehensive review of the center's SCD patient medical records, incorporating data elements developed by the SickleInAfrica Consortium and obtaining ethical clearance from the local Institutional Review Board. From December 2017 to March 2020, 3,148 SCD patients were enrolled into the SCD registry. Enrollment was during the SCD outpatient clinic visits or through home visits. A significant proportion of the patients was from the newborn screening cohort (50.3%) and was males (52.9%). SCD-SS, SCD-SC, and Sβ
thalassemia were seen in 67.2, 32.5, and 0.3% patients, respectively. The majority of the patients were in a steady state at enrollment; however, some were enrolled after discharge for an acute illness admission. The top two clinical diagnoses for SCD-SS patients were sickle cell painful events and acute anemia secondary to hyperhemolysis with incidence rates of 141.86 per 10,000 person months of observation (PMO) and 32.74 per 10,000 PMO, respectively. In SCD-SC patients, the top two diagnoses were sickle cell painful events and avascular necrosis with incidence rates of 203.09 per 10,000 PMO and 21.19 per 10,000 PMO, respectively. The SPARCO Kumasi site has developed skills and infrastructure to design, manage, and analyze data in the SCD registry. The newborn screening program and alternative recruitment methods such as radio announcement and home visits for defaulting patients were the key steps taken in enrolling patients into the registry. The registry will provide longitudinal data that will help improve knowledge of SCD in Ghana and Africa through research.
Endemic Burkitt lymphoma (eBL) is an aggressive B-cell lymphoma, which is a common childhood cancer in areas with intense transmission of Plasmodium falciparum parasites. Early and accurate diagnosis ...is a prerequisite for successful therapy, but it optimally involves advanced laboratory investigations. These are technologically demanding, expensive, and often difficult to implement in settings where eBL is prevalent. Diagnosis is thus generally based on clinical assessment and morphological examination of tumour biopsies or fine-needle aspirates (FNAs).
The purpose of the present study was to assess the accuracy of eBL diagnosis at two tertiary hospitals in Ghana. To that end, we studied FNAs from 29 eBL patients and 21 non-eBL lymphoma patients originally diagnosed in 2018. In addition, we examined 111 archival formalin-fixed and paraffin-embedded (FFPE) biopsies from Ghanaian patients originally diagnosed as eBL (N = 55) or non-eBL (N = 56) between 2010 and 2017. Availability-based subsets of samples were subjected to haematoxylin-eosin or Giemsa staining, C-MYC immunohistochemistry, and fluorescence in situ hybridisation (FISH) analysis of c-myc rearrangements.
We found a good correlation between original diagnosis and subsequent retrospective assessment, particularly for FNA samples. However, evidence of intact c-myc genes and normal C-MYC expression in samples from some patients originally diagnosed as eBL indicates that morphological assessment alone can lead to eBL over-diagnosis in our study area. In addition, several FFPE samples could not be assessed retrospectively, due to poor sample quality. Therefore, the simpler FNA method of obtaining tumour material is preferable, particularly when careful processing of biopsy specimens cannot be guaranteed.
We conclude that the accuracy of eBL diagnostic tools available in Ghana is generally adequate, but could be improved by implementation of additional pathology laboratory investigations. Improved attention to adequate preservation of archival samples is recommended.
Sickle cell disease (SCD) is one of the most prevalent genetic conditions in sub-Saharan Africa. It is a chronic, lifelong disease often characterized by severe pain. However, SCD has received little ...investment terms of health research, though there is currently a growing pool of SCD data from health and research facilities in different countries. To facilitate research on SCD in Africa, the SickleInAfrica consortium has established a SickleInAfrica registry. The registry will store a systematic collection of longitudinal data from persons with SCD across sub-Saharan Africa, and currently, participants are being enrolled in Ghana, Nigeria, and Tanzania. In establishing this registry, the SickleInAfrica consortium decided to actively identify and anticipate possible ethical issues that may arise in the development and management of the registry. This was motivated, in part, by the near absence of well documented ethical issues for registry research in Africa, more-so for registries enrolling participants across multiple countries and for a genetic condition. The consortium aims to establish standards for the equitable use of data stored in the registry. This paper presents a comprehensive report on the ethical considerations that came up in setting up a genetic disease registry across multiple African countries and how they were addressed by the SickleInAfrica consortium. Major issues included: active involvement of patients in the initiation and management of the registry; questions of assent and re-consent; the importance of ensuring that fears of exploitation are not replicated in African-African research collaborations; and the importance of public engagement in the management of registries. Drawing on this experience, SickleInAfrica plans to set up an ethics helpdesk for genetic disease registries and research in Africa.
Abstract
Background and Aims
Sickle cell disease (SCD) is the commonest monogenic haemolytic disorder in Africa. Despite strides made in its management, a significant proportion of patients are ...hospitalized from the various complications of the disease. This study set out to describe the main causes and outcomes of hospitalizations among pediatric patients with SCD.
Methods
A cross‐sectional study was conducted at the Pediatric Emergency Unit of Komfo Anokye Teaching Hospital within a period of 12 months to recruit pediatric SCD patients. This study looked at causes of admission, length of hospital stay (LOS), and outcome of admission.
Results
Of the 201 SCD patients recruited, 57.2% were males and majority were of SCD‐SS phenotype 83.1%. The median age was 6 years. The three leading causes of hospitalization were Vaso‐occlusive pain events (VOPE) (39.8%), acute chest syndrome (ACS) (25.9%), and infections (12.4%). Ten (5.0%) of the patients presented with a stroke. High admissions were observed in June (12.4%) and November (16.9%). The median (interquartile range IQR) LOS was 6 days (IQR: 4–10). Six (3.0%) of the patients died from complications of the disease during hospitalization.
Conclusion
VOPE, ACS, infections, and acute anaemia from hyperhaemolysis were observed as the most common causes of admissions among SCD patients. A good outcome of discharge was seen in most of the patients that were hospitalized with a median length of stay of 6 days. This study also strengthens the importance of a good SCD database with patient follow‐ups for better outcomes in SCD patients.
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