ABSTRACT
Background@#Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.@*Objective@#This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.@*Methods@#The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.@*Results@#Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder. @*Conclusion@#Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.
ABSTRACT
@#<p style="text-align: justify;"><strong>Objective.</strong> This study was done to determine the effectiveness of non-invasive ventilation (NIV) in treating infants aged 1 to 12 months with severe bronchiolitis based on a systematic review of literature and meta-analysis of quantitative results.</p><p style="text-align: justify;"><strong>Methods.</strong> We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) flow diagram for identification, screening, and identification of eligible studies. Five databases (PubMed, Herdin, Cochrane Library, Google Scholar, and Science Direct) were searched for relevant studies involving the use of NIV among children with severe bronchiolitis. Included studies were assessed for quality and risk of bias.</p><p style="text-align: justify;"><strong>Results.</strong> There were 9 included eligible studies. The length of hospital stay and duration of respiratory support were significantly lower with the use of NIV compared with IMV (invasive mechanical ventilation) based on pooled standard mean difference (SMD) estimates; however, there was high statistical heterogeneity in the included studies. This can be attributed to differences in the mode of intervention used among studies, patient-specific factors, and viral virulence. Significant improvements in heart rate, oxygen saturation, and tCO2 were seen in the included studies. One study showed statistically significant differences in changes in respiratory rate and improvement in respiratory status based on two bronchiolitis severity scores among infants placed on NIV.</p><p style="text-align: justify;"><strong>Conclusion.</strong> Fair to good-quality evidence from included studies reveals that there is a significant reduction in length of hospital stay, duration of respiratory support, and improvements in respiratory parameters among infants who received NIV for severe bronchiolitis. Larger, well-designed clinical trials on the use of NIV among resource-limited settings wherein it may offer valuable clinical utility, are recommended for future study</p>