Challenges and lessons learnt in the management of an HIV-exposed neonate with gastroschisis in a resource-limited setting: case report.

Introduction and importance: The incidence of congenital abdominal wall defects is increasing, but few cases have been reported in the African population. Case presentation: The authors report a case of gastroschisis in a term neonate who was delivered through spontaneous vaginal delivery (SVD) in a remote health facility before transfer to a tertiary hospital in Uganda. Although there was no environmental exposure to teratogens, the major risk factor of Gastroschisis, the neonate was low birth weight, HIV-exposed, and the mother had not received folic acid supplementation during the first trimester, known risk factors of gastroschisis. Physical examination revealed intrauterine growth restriction in addition to the findings of the abdominal wall defect. Clinical discussion: There were many missed opportunities in the management of this case which was marred by delayed essential care of the newborn, delayed surgical repair, and transfer to the tertiary surgical centre. At the tertiary surgical centre, a modified silo technique with delayed secondary closure was used to repair the defect, but the neonate still met its death before completing day 7 of life. Conclusion: This case of gastroschisis shows how the diagnosis and management of neonates born with major congenital structural abnormalities in resource-limited settings is still desirable due to lack of sophisticated medical care services to assist in early detection during pregnancy and early surgical intervention at birth to prevent associated mortality. The authors discuss the lessons learnt and provide recommendations for improvement in the care of neonates born with abdominal wall defects and other congenital birth defects.

Sickle Cell Disease in Children and Adolescents: A Review of the Historical, Clinical, and Public Health Perspective of Sub-Saharan Africa and Beyond.

Sickle cell disease (SCD) is an umbrella term for a group of life-long debilitating autosomal recessive disorders that are caused by a single-point mutation (Glu→Val) that results in polymerization of hemoglobin (Hb) and reversible sickle-shape deformation of erythrocytes. This leads to increased hemolysis of erythrocytes and microvascular occlusion, ischemia-reperfusion injury, and tissue infarction, ultimately causing multisystem end-organ complications. Sickle cell anemia (HbSS) is the most common and most severe genotype of SCD, followed by HbSC, HbSß 0thalassemia, HbSß+thalassemia, and rare and benign genotypes. Clinical manifestations of SCD occur early in life, are variable, and are modified by several genetic and environmental factors. Nearly 500 children with SCD continue to die prematurely every day, due to delayed diagnosis and/or lack of access to comprehensive care in sub-Saharan Africa (SSA), a trend that needs to be urgently reversed. Despite proven efficacy in developed countries, newborn screening programs are not universal in SSA. This calls for a consolidated effort to make this possible, through the use of rapid, accurate, and cheap point-of-care test kits which require minimal training. For almost two decades, hydroxyurea (hydroxycarbamide), a century-old drug, was the only disease-modifying therapy approved by the U.S. Food and Drug Administration. Recently, the list expanded to L-glutamine, crizanlizumab, and voxelotor, with several promising novel therapies in the pipeline. Despite its several limitations, hematopoietic stem cell transplant (HSCT) remains the only curative intervention for SCD. Meanwhile, recent advances in gene therapy trials offer a glimpse of hope for the near future, although its use maybe limited to developed countries for several decades.