Use of the national electronic maternal and child health registry (MCH eRegistry) in primary care clinics in occupied Palestinian territory: a pilot time-motion study

Background

In primary care maternal and child health clinics in occupied Palestinian territory, documentation and reporting consume considerable time for care providers. An electronic maternal and child health registry (MCH eRegistry), with point-of-care clinical decision support, is being implemented nationally in governmental clinics. We conducted a pilot study of time spent by care providers on important tasks, in preparation for a trial to compare eRegistry and non-eRegistry clinics.

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3′‐end processing

Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA metabolism, including ELAC2. The ELAC2 gene codes for the mitochondrial RNase Z, responsible for endonucleolytic cleavage of the 3′ ends of mitochondrial pre‐tRNAs. Here, we report the identification of 16 novel ELAC2 variants in individuals presenting with mitochondrial respiratory chain deficiency, hypertrophic cardiomyopathy (HCM), and lactic acidosis. We provide evidence for the pathogenicity of the novel missense variants by studying the RNase Z activity in an in vitro system. We also modeled the residues affected by a missense mutation in solved RNase Z structures, providing insight into enzyme structure and function. Finally, we show that primary fibroblasts from the affected individuals have elevated levels of unprocessed mitochondrial RNA precursors. Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile‐onset forms of HCM and mitochondrial respiratory chain dysfunction. One rare missense variant associated with the occurrence of prostate cancer (p.Arg781His) impairs the mitochondrial RNase Z activity of ELAC2, suggesting a functional link between tumorigenesis and mitochondrial RNA metabolism     

Coagulation testing before epidural analgesia at delivery: cost analysis

Backgound

The usefulness of coagulation tests performed before epidural analgesia for surgery or to alleviate labour pain is controversial. The aims of this study were: 1) to evaluate the prevalence of abnormal tests in a large cohort of healthy pregnant women and their association with epidural hematoma; 2) to assess the approach of the anesthesiologists to women with abnormal tests; 3) to evaluate the cost of performing coagulation tests before epidural analgesia in all healthy pregnant women.

Methods

Data regarding epidural analgesia, epidural hematoma, PT, APTT, fibrinogen and platelet count were extracted from medical charts.

Results

There was no case of epidural hematoma in 2546 pregnant women undergoing epidural analgesia. PT and APTT results were obtained in 2871 women; fibrinogen in 4063 women; platelet count in 5090 women. Three of them (0.1%) had a prolonged PT, 4 (0.14%) had a prolonged APTT, 27 (0.53%) had platelets ≤100 × 10⁹/L and 37 (0.91%) had plasma fibrinogen levels < 3 g/L. No further tests were requested by the anesthesiologists in these women. Only women with platelets < 80 × 10⁹/L were denied epidural analgesia. Based on the data from the literature on the frequencies of epidural hematoma after epidural analgesia, a total cost ranging from 4.5 to 40 million Euros to perform coagulation tests would be necessary to avoid one case of epidural hematoma.

Discussion

Unselected coagulation tests before epidural analgesia are not recommended, because epidural hematoma is extremely rare in healthy pregnant women and the cost of screening is not justified.     

Impact of Genetic Risk Score and Dietary Protein Intake on Vitamin D Status in Young Adults from Brazil

Given the relationship between vitamin D deficiency (VDD) and adverse outcomes of metabolic diseases, we investigated the interplay of dietary and genetic components on vitamin D levels and metabolic traits in young adults from Brazil. Genetic analysis, dietary intake, and anthropometric and biochemical measurements were performed in 187 healthy young adults (19–24 years). Genetic risk scores (GRS) from six genetic variants associated with vitamin D (vitamin D-GRS) and 10 genetic variants associated with metabolic disease (metabolic-GRS) were constructed. High vitamin D-GRS showed a significant association with low 25(OH)D concentrations (p = 0.001) and high metabolic-GRS showed a significant association with high fasting insulin concentrations (p = 0.045). A significant interaction was found between vitamin D-GRS and total protein intake (g/day) (adjusted for non-animal protein) on 25(OH)D (p_interaction = 0.006), where individuals consuming a high protein diet (≥73 g/d) and carrying >4 risk alleles for VDD had significantly lower 25(OH)D (p = 0.002) compared to individuals carrying ≤4 risk alleles. Even though our study did not support a link between metabolic-GRS and vitamin D status, our study has demonstrated a novel interaction, where participants with high vitamin D-GRS and consuming ≥73 g of protein/day had significantly lower 25(OH)D levels. Further research is necessary to evaluate the role of animal protein consumption on VDD in Brazilians.