Using Precision Medicine to Disentangle Genotype-Phenotype Relationships in Twins with Rett Syndrome: A Case Report.

Rett syndrome (RTT) is a paediatric neurodevelopmental disorder spanning four developmental stages. This multi-system disorder offers a unique window to explore genotype-phenotype relationships in a disease model. However, genetic prognosticators of RTT have limited clinical value due to the disorder's heterogeneity on multiple levels.

Co-Occurring Methylenetetrahydrofolate Reductase () rs1801133 and rs1801131 Genotypes as Associative Genetic Modifiers of Clinical Severity in Rett Syndrome.

Aim: Remethylation disorders such as 5,10-methylenetetrahydrofolate reductase () deficiency reduce the remethylation of homocysteine to methionine. The resulting hyperhomocysteinemia can lead to serious neurological consequences and multisystem toxicity. The role of genotypes has not been investigated in patients with Rett Syndrome (RTT).

Effect of betamethasone administration on fetal heart rate tracing: a blinded longitudinal study.

Objective: Computerized fetal heart rate (FHR) analysis revealed that antenatal corticosteroids transiently suppress multiple parameters of fetal well-being, potentially leading to the erroneous diagnosis of fetal distress and to unnecessary iatrogenic delivery of premature infants. Our aim was to determine whether clinicians who visually analyze FHR tracings detect these suppressive effects, thereby potentially affecting their clinical management decisions.

Methods: Singleton pregnancies admitted for preterm labor between 26 and 34 weeks' gestation received two doses of betamethasone, 24 h apart, and were monitored daily between 16:00 and 19:00 h for 5 days.