ABSTRACT
Malnutrition is widely known to affect growth in children. There are many studies focusing on malnutrition globally in relation to limited food access; however, there is only limited research on disease-related malnutrition, especially in chronic conditions and particularly in developing countries. This study aims to review articles on the measurement of malnutrition in pediatric chronic disease, especially in developing countries where there are resource limitations in identifying nutritional status in pediatric chronic disease with complex conditions. This state-of-the-art narrative review was conducted through search of literatures through 2 databases, and identified 31 eligible articles published from 1990 to 2021. This study found no uniformity in malnutrition definitions and no consensus regarding screening tools for the identification of the malnutrition risk in these children. In developing countries where resources are limited, instead of focusing on finding the best tools to identify the malnutrition risk, the approach should be directed toward developing systems that work best according to capacity and allow for a combination of anthropometry assessment, clinical evaluation, and observation of feeding access and tolerance on a regular basis.
ABSTRACT
Background: Factor VIII (FVIII) inhibitor diagnosis and surveillance in Indonesia are challenging owing to geographic conditions and the lack of laboratory facilities nationwide for inhibitor assays. This study aimed to determine the prevalence of FVIII inhibitors in children diagnosed with hemophilia A (HA) in Indonesia. Methods: A cross-sectional study was conducted in 12 hospitals in eight provinces of Indonesia between 2020 and 2021. Factor VIII inhibitor screening was performed in a central hemostasis laboratory for all children with HA (≤18 yr) who had received a minimum of 10 exposure days to clotting factor concentrates. The FVIII inhibitor titer was determined using the Bethesda assay. Results: Children (388) were enrolled in this study, including 219 (56.4%), 131 (33.8%), and 38 (9.4%) with severe, moderate, and mild HA, respectively. The prevalence of children who developed FVIII inhibitors was 37 out of 388 (9.6%). Factor VIII inhibitors were found in 25/219 (11.4%) severe, 11/131 (8.3%) moderate, and 1/38 (2.6%) children with mild HA. Thirteen children had low-titer inhibitors and 24 had high-titer inhibitors, with a median of 9.44 (1.48â412.0) Bethesda Units. Among 13 children with low-titer inhibitors, eight underwent a confirmation test, of which five tested negative and were classified as transient. A significant difference in annual joint bleeding rate was found between patients with low and high inhibitor titers and those without inhibitors (Pï¼0.001). Conclusion: Factor VIII inhibitor prevalence in Indonesia was relatively low. However, the risk factors that may contribute to FVIII inhibitor development among Indonesian patients require further study.
ABSTRACT
Leber's hereditary optic neuropathy (LHON) is a maternally inherited late-onset form of blindness characterized by acute or subacute bilateral retinal degradation resulting in a permanent loss of central vision. G11778A, C3460A, and T14484C mutations on mitochondrial DNA (mtDNA) are specific for LHON and account for most, but not all, worldwide LHON cases. A six-generation Indonesian LHON family with the T14484C mutation was analyzed. Polymerase chain reaction/restriction fragment length polymorphism analysis showed that all of the maternal lineages had the T14484C mutation in a homoplasmic form. Penetrance of the disease (33.3%) and male predominance (3:1) was similar to other worldwide LHON with the T14484C mutation. The incidence of offspring born to affected mothers was no different from that of unaffected mothers, and the age distribution of cases was no higher than that of asymptomatic carriers. Eight secondary mutations were sought but not detected. The patients of this family belonged to haplogroup M. These findings support the idea that the mtDNA backgrounds involved in the expression of LHON mutations in southeast Asians are different from those of Europeans.
