Curative Therapies for Sickle Cell Disease.

Sickle cell disease (SCD) is an autosomal recessive hemoglobinopathy that affects individuals worldwide. The mutation in the beta-globin gene leads to abnormal hemoglobin production, sickle hemoglobin, which polymerizes under stress leading to, among other end-organ manifestations, chronic hemolytic anemia, debilitating vaso-occlusive crises, and stroke. Unfortunately, chronic stress on end-organs impacts the life expectancy of patients with SCD, which in the United States averages 43 years, approximately 36 years less than people without the disease. Here, we review the progress made in curative interventions for those with SCD, namely allogeneic hematopoietic cell transplantation and gene therapy. These interventions continue to evolve as we better understand SCD pathophysiology, use new graft-versus-host disease prophylaxis regimens, expand stem cell donor options, and understand the genetic control of hemoglobin production. Although significant progress has been made, many gaps remain in the successful implementation of these interventions globally and for all patients. [Pediatr Ann. 2024;53(2):e56-e61.].

Positive bronchoalveolar lavage pepsin assay associated with viral and fungal respiratory infections in children with chronic cough.

OBJECTIVE: To assess the association between commonly obtained endoscopic and serologic data and bronchoalveolar lavage pepsin assay (BAL) results in children with chronic cough. STUDY DESIGN: We performed a retrospective chart review of 72 children with a BAL pepsin obtained through our Aerodigestive Center over an 18-month period. BAL outcomes include evidence of viral, bacterial, or fungal infection, presence of lipid-laden macrophages, and cytology (eosinophils, neutrophils, and lymphocytes). Gastrointestinal outcomes include esophagogastroduodenoscopy (EGD) and pH impedance probe findings. Other characteristics include serum eosinophils, neutrophils, and lymphocytes; spirometry; FeNO; and IgE. RESULTS: Seventy-two patients underwent BAL pepsin testing. Median age was 4.9 years, 30.6% had severe persistent asthma, and 59.2% were on reflux medication. There was an association between positive BAL pepsin assay and positive viral panel (p = .002) or fungal culture (p = .027). No significant association found between positive BAL bacterial culture; BAL cytology; the presence of BAL lipid-laden macrophages; IgE; spirometry; FeNO; CBC neutrophil, eosinophil, or lymphocytes; pH impedance testing parameters; or EGD pathology. CONCLUSIONS: BAL pepsin is associated with a positive BAL viral PCR or fungal culture. Lack of correlation between pepsin-positivity and pH-impedance parameters or EGD pathology suggests microaspiration may be due to an acute event (such as a respiratory infection) rather than chronic gastroesophageal reflux disease. This may be especially true in the presence of a positive viral panel or fungal culture when a BAL pepsin is obtained.

Antibiotic prophylaxis in children with ureteric stents: Bliss or misery?

INTRODUCTION: The risk of urinary tract infection (UTI) in patients with a ureteric stent is influenced by several factors such as duration of stenting. Antibiotic prophylaxis has been previously used for the prevention of UTI in patients with common urological pathologies. The aims of this study were to evaluate the incidence, to identify the risk factors of symptomatic UTI in pediatric patients with ureteric stents, and to review the effectiveness of antibiotic prophylaxis in reducing the rate of symptomatic UTI compared to a no intervention (control) group. MATERIALS AND METHODS: This was a retrospective cohort study that was held at a tertiary hospital in Jeddah, Saudi Arabia. The study included 110 pediatric patients who were younger than 18 years and who required ureteric stent insertion. Disregarding gender difference, the patients were divided into two main groups: an antibiotic group and a control group. The patients in the antibiotic group (Group 1) received continuous antibiotic prophylaxis from the date of ureteral stent insertion until removal, while the patients in the control group (Group 2) received antibiotics during the perioperative period only. RESULTS: A total of 110 patients were included in the final analysis. Group 1 patients who were given antibiotic prophylaxis during the presence of ureteric stent were 54 patients (49%). Group 2 patients who were only given antibiotic during the perioperative period were 56 (51%). Males compromised 73% (n = 80) of the sample population, while females were 27% (n = 30). The prevalence of symptomatic UTI was significantly reduced from 25% in the control group to 7% in the antibiotic group (P < 0.004). CONCLUSION: Antibiotic prophylaxis has significantly reduced the risk of symptomatic UTI by 68% in comparison to the control group.