RESUMO
Heterozygous PRRT2 variants are frequently implicated in Self-limited Infantile Epilepsy, whereas homozygous variants are so far linked to severe presentations including developmental and epileptic encephalopathy, movement disorders, and intellectual disability. In a study aiming to explore the genetics of epilepsy in the Sudanese population, we investigated several families including a consanguineous family with three siblings diagnosed with self-limited infantile epilepsy. We evaluated both dominant and recessive inheritance using whole exome sequencing and genomic arrays. We identified a pathogenic homozygous splice-site variant in the first intron of PRRT2 [NC_000016.10(NM_145239.3):c.-65-1G > A] that segregated with the phenotype in this family. This work taps into the genetics of epilepsy in an underrepresented African population and suggests that the phenotypes of homozygous PRRT2 variants may include milder epilepsy presentations without movement disorders.
RESUMO
Purpose: Septic arthritis (SA) of the hip joint is a serious infection which can lead to more irreversible complications. Differentiating Septic arthritis from Transient synovitis (which is the most common cause of painful hip in children) is difficult and very important to prevent serious complications which can occur with Septic arthritis. The aim of this study was to find out the MRI findings which can differentiate between these two conditions. Methods: Systematic literature search was conducted according to the PRISMA guidelines on MEDLINE(PubMed), Google Scholar, ScienceDirect, and world Health Organization Virtual Health Library, up to April 2022. Studies that compared MRI findings between Septic Arthritis and Transient Synovitis of hip joint in children were included. The pooled sensitivity and specificity estimates of these findings were calculated using MetaDTA version 2.0. Results: Six studies were included in qualitative analysis and five were included in quantitative analysis. Pooled sensitivity and specificity of synovial enhancement were 94.2 % (95 % CI, 45.2-99.7 %) and 60.6 % (95% CI, 6-97.4 %) respectively. Soft tissue changes had pooled sensitivity and specificity of 75 % (95% CI, 57.5-86.9 %) and 69.9 % (95 % CI, 46.5-86.2 %) respectively. Pooled sensitivity and specificity of femoral head changes were 41.5 % (95 % CI, 15.9-72.7 %) and 87.3 % (95 % CI, 75.5-93.8 %) respectively. Bone marrow changes had pooled sensitivity and specificity of 70 % (95 % CI, 26.8-93.7 %) and 99.9 % (95 % CI, 28.7-100 %) respectively. Conclusion: MRI findings especially bone marrow changes were found to be useful in differentiating septic arthritis from transient synovitis among children presented with painful hip after exclusion of other causes.
RESUMO
BACKGROUND: Neonatal admission hypothermia (HT) is a frequently encountered problem in neonatal intensive care units (NICUs) and it has been linked to a higher risk of mortality and morbidity. However, there is a disparity in data in the existing literature regarding the prevalence and outcomes associated with HT in very low birth weight (VLBW) infants. This review aimed to provide further summary and analyses of the association between HT and adverse clinical outcomes in VLBW infants. METHODS: In July 2020, we conducted this review according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A systematic database search was conducted in MEDLINE (PubMed), Google Scholar, ScienceDirect, World Health Organization Virtual Health Library, Cochrane Library databases, and System for Information on Grey Literature in Europe (SIGLE). We included studies that assessed the prevalence of HT and/or the association between HT and any adverse outcomes in VLBW infants. We calculated the pooled prevalence and Odds Ratio (OR) estimates with the corresponding 95% Confidence Interval (CI) using the Comprehensive meta-analysis software version 3.3 (Biostat, Engle-wood, NJ, USA; http://www.Meta-Analysis.com ). RESULTS: Eighteen studies that fulfilled the eligibility criteria were meta-analyzed. The pooled prevalence of HT among VLBW infants was 48.3% (95% CI, 42.0-54.7%). HT in VLBW infants was significantly associated with mortality (OR = 1.89; 1.72-2.09), intra-ventricular hemorrhage (OR = 1.86; 1.09-3.14), bronchopulmonary dysplasia (OR = 1.28; 1.16-1.40), neonatal sepsis (OR = 1.47; 1.09-2.49), and retinopathy of prematurity (OR = 1.45; 1.28-1.72). CONCLUSION: Neonatal HT rate is high in VLBW infants and it is a risk factor for mortality and morbidity in VLBW infants. This review provides a comprehensive view of the prevalence and outcomes of HT in VLBW infants.
