Implementation of hospital-based sickle cell newborn screening and follow-up programs in Haiti.

ABSTRACT: One in 120 children are born with sickle cell disease (SCD) in Haiti. However, health care challenges include isolated newborn screening (NBS) activities and lack of transcranial Doppler (TCD) ultrasound to assess stroke risk. The implementation activities of the Comparative Study of Children in Haiti and Miami with Sickle Cell Disease involved both NBS and TCD ultrasound implementations at 4 Haitian clinical sites. We hypothesized that hospital-based newborn SCD screening and follow-up programs would be feasible at Haiti. A traditional NBS laboratory method with dried blood samples was performed at 3 Port-au-Prince sites, and the traditional method plus point-of-care (POC) testing was used at the 2 northern sites. The rate of clinical follow-up for newborns with SCD as the outcome for the NBS intervention was compared with that of the NBS method. The NBS programs identified SCD in 0.77% of 8224 newborns over a 24-month period. In the rural hospital assigned to the combination screening, 56% of newborns identified with POC testing returned for follow-up, compared with 0% when POC was not available (P = .044). Newborns who tested positive for SCD and children aged <6 years with SCD at the clinical sites were eligible for study follow-up. Accrual was successful: 165 participants (mean age, 42 months; 53% males; 93% hemoglobin SS) were recruited and received oral penicillin. TCD ultrasound screening was hampered by poor internet connections and trained staff leaving Haiti, with only 1 active site conducting screening. Despite challenges, the implementation of NBS and sickle cell programs in Haiti is feasible. We are in the process of understanding how to mitigate implementation limitations.

Introduction of Hydroxyurea Therapy to a Cohort of Sickle Cell Patients in Northern Haiti.

Although the prevalence of sickle cell anemia is high in Haiti, treatment with hydroxyurea (HU) is uncommon. HU therapy was started at a hospital in Northern Haiti for children and young adults who had presented with complications of their disease. The patients were followed in clinic for their response to therapy and the principal outcome was hospitalization for complications. There was a 70% decrease in the rate of hospitalization in the cohort with no significant complications or deaths during the study period. Treatment with HU is a proven therapy that reduces the morbidity associated with sickle cell anemia and efforts should be made to assure access and affordability in regions with a high prevalence.

Diphtheria in Children in Northern Haiti.

Infection with Corynebacterium diphtheriae persists in Haiti. Twenty-six children with clinically severe respiratory diphtheria presented to a hospital in northern Haiti during a 3-year period beginning in early 2015. The mortality rate was 50%. Partial or absent vaccinations as well as delayed and limited care contributed to mortality. This cohort offer insights into the multiple challenges involved in preventing and caring for children with diphtheria in resource-limited settings.

Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis: a case report and a review of the literature.

The aneurysmal bone cyst is a very infrequent, benign bone lesion in children which rarely can be found at the craniofacial skeleton. Here, we describe a case presenting in the mandible as an acute swelling of the cheek, which was initially misdiagnosed as osteomyelitis resulting in a delay to definitive surgical treatment. The cause of misleading diagnosis is often owing to the rapid growth of the lesion, sometimes associated with painful soft tissue swelling indicating an infectious origin or a malignant tumor. Magnetic resonance imaging revealed the classic characteristics of aneurysmal bone cyst with severe destruction of the mandible. Therefore, curative tumor embolization and complete surgical excision was successfully performed. The aneurysmal bone cyst is a curable condition by radical excision, although relapse may occur when only incomplete excision is obtained. Therefore, aneurysmal bone cyst should be considered early when children present with unusual, rapid-growing neoformations of the extremities or the facial region.

Novel strategies of aerosolic pharmacotherapy.

The pulmonary administration of drugs plays a crucial role in the management of various respiratory and systemic diseases. While the cellular properties of airway epithelial cells offer a great potential to deliver drugs into the lungs or the circulation, only little is known about the exact transport pathways. Recently, the high-affinity proton-coupled drug and peptide transporter PEPT2 was identified in the human respiratory tract. The expression of transporter mRNA and protein was localized to the airway epithelium and alveolar type II pneumocytes. In addition, transport studies revealed transporter-mediated uptake of substrates into epithelial cells indicating that the transporter is the molecular basis for the transport of peptides and peptidomimetic drugs in pulmonary epithelial cells. Since genotype analysis revealed no significant differences amongst different transporter genotypes concerning expression and function, the transporter displays an interesting novel target for pulmonary delivery of drugs.