Publications by authors named "Daria Salyakina"
Article Synopsis
- Clinical genome sequencing (cGS) shows promise in diagnosing rare genetic diseases, especially in underserved populations, with a study examining its effectiveness across high-income and low- and middle-income countries.
- The iHope program assessed 1,004 individuals and found a 41.4% diagnostic yield, with those from low- and middle-income countries being 1.7 times more likely to receive positive results compared to high-income counterparts.
- Over 76% of individuals experienced changes in diagnostic evaluation, and around 41% had changes in management strategies, indicating increased access to genomic testing may help reduce healthcare disparities globally.
Article Synopsis
- The study assesses a new algorithm for identifying Long COVID in pediatric patients, aiming to standardize how this condition is defined and recognized in the medical community.
- Using data from 31,781 patients, the algorithm showed moderate accuracy when compared to traditional chart reviews, with an overlap rate of 62%, but also noted significant disagreement on cases.
- The findings suggest that discrepancies may stem from varying interpretations of Long COVID symptoms, emphasizing the need for a clearer clinical definition to improve identification and support research efforts.
Article Synopsis
- Children with relapsed or refractory cancers have few treatment options and limited predictive biomarkers, making personalized care challenging.
- This study explores functional precision medicine (FPM), which combines genomic profiling with drug sensitivity testing to identify effective treatments when standard options fail.
- Results showed that 76% of patients received treatment recommendations from FPM, with many experiencing significant improvements in progression-free survival compared to previous therapies, highlighting FPM's potential in improving care for pediatric cancer patients.
Article Synopsis
- Nine out of 19 genes that code for GABA receptor subunits are linked to disorders associated with seizures and developmental issues.
- The study identified three new de novo missense variants in the GABRA4 gene in patients with epilepsy and various neurodevelopmental problems, highlighting a connection between these genetic changes and neurological symptoms.
- Molecular dynamics simulations showed that the mutated GABRA4 subunits behave differently than the normal ones, supporting the role of this gene in causing a range of neurological conditions.
Article Synopsis
- The study aimed to implement rapid whole genome sequencing (rWGS) in multiple hospitals to evaluate its clinical utility for infants suspected of having genetic diseases.
- Over 188 hospitalized infants were tested from November 2017 to April 2020, with 35% receiving a diagnostic result in an average of 6 days; providers significantly altered management plans for many based on test outcomes.
- Findings suggest that rWGS can be effectively integrated into clinical practice across diverse institutions, offering valuable insights into genetic conditions despite the presence of uncertain test results.
Article Synopsis
- The study discusses two cases of Schaaf-Yang syndrome that have the same genetic makeup (genotypically identical) but show different physical symptoms (phenotypically distinct).
- It suggests that using Genome Sequencing early in patients who show vague or nonspecific symptoms can help diagnose rare genetic diseases sooner.
- This early diagnosis could lead to better health care outcomes for affected children.
Article Synopsis
- Urinary tract infections (UTIs) are a leading cause of hospitalization in children, with an increasing presence of extended-spectrum beta-lactamase (ESBL) producing bacteria.
- A study was conducted analyzing medical records of hospitalized children from 2014 to 2017 to identify risk factors and treatment outcomes for those with ESBL-UTI versus non-ESBL UTIs.
- Key risk factors for ESBL-UTI identified were previous UTIs, recent antibiotic use, urinary abnormalities, past hospitalizations, and certain health issues, with patients typically needing longer treatment and hospitalization.
There is an increasing demand for supporting the adoption of rapid whole-genome sequencing (rWGS) by demonstrating its real-world value. We aimed to assess the cost-effectiveness of rWGS in critically ill pediatric patients with diseases of unknown cause. Data were collected prospectively of patients admitted to the Nicklaus Children's Hospital's intensive care units from March 2018 to September 2020, with rWGS (N = 65).
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- The study evaluates the cost-effectiveness of exome sequencing (ES) and genome sequencing (GS) for diagnosing genetic conditions in critically ill infants and children.
- It compares various diagnostic strategies, including standard of care testing and combinations of ES and GS, measuring their costs and the quality-adjusted life years (QALYs) they provide.
- Findings suggest that first-line GS is the most cost-effective for diagnosing infants, while ES is a close alternative when GS isn’t an option; for children, GS could also be cost-effective under specific conditions regarding long-term prognosis.
Article Synopsis
- The study aimed to assess if human fibrinogen concentrate could lower blood loss and the need for blood component therapy in neonate and infant patients undergoing cardiac surgery.
- In a randomized trial with 30 pediatric patients, those receiving fibrinogen concentrate required significantly less cryoprecipitate than the placebo group.
- While the treatment reduced cryoprecipitate use, it did not significantly affect overall blood loss or other measures of hemostasis and safety compared to the placebo.
Article Synopsis
- The study aimed to analyze how fundamental movement skills (FMS) are taught in elementary PE classes, specifically for grades 1 to 6.
- A survey of PE teachers revealed that only 38.2% covered all 12 FMS components, with teachers of younger grades (1-3) more likely to teach all components using direct instruction.
- Additionally, very few teachers (8.8%) referred students who struggled to exercise programs or health care professionals for support.
Article Synopsis
- - The study aims to understand how pediatric providers currently use pharmacogenetic testing (PGx) and to identify barriers they face when prescribing medications, emphasizing that children have different needs than adults in this context.
- - An online survey of 252 pediatric providers showed that while 24% had ordered PGx tests, over 90% felt more comfortable with expert assistance when interpreting the results, pointing to a need for better support and education.
- - The findings suggest that improving collaboration among healthcare professionals and increasing education about PGx testing are essential steps to overcome existing barriers and enhance patient care in pediatrics.
Article Synopsis
- Regulatory pathways involving non-coding RNAs (ncRNAs) like microRNAs and long non-coding RNAs are crucial for controlling gene expression, especially in the context of Kaposi's sarcoma-associated herpesvirus (KSHV).
- Researchers conducted RNA sequencing on mouse endothelial cells and tumors to explore how these ncRNAs interact in networks that contribute to KSHV tumor development.
- Their findings helped identify specific lncRNAs and their target pairs that affect cancer-related pathways, leading to potential therapeutic targets for AIDS-related Kaposi's sarcoma.
Article Synopsis
- Pediatric CNS infections can be life-threatening, making it crucial to identify pathogens for proper treatment and prognosis.
- The study used metagenomic next-generation sequencing (mNGS) to analyze cerebrospinal fluid (CSF) in children with suspected CNS infections, after standard testing was performed.
- The findings showed mNGS identified pathogens in 28.6% of cases, with results available within 38 hours, highlighting its effectiveness for rapid pathogen detection.
Article Synopsis
- The study aimed to compare the effectiveness of liposomal bupivacaine (LB) and the ON-Q PainBuster pump in managing pain after cardiac surgery in children.
- A total of 222 pediatric patients were analyzed, with LB patients receiving a higher dose of intravenous acetaminophen and more successful extubation compared to the ON-Q group.
- While LB patients reported higher pain scores in the first 24 hours, overall, LB was found to be at least as effective as the ON-Q method for post-surgery pain relief.
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Christopher A Febres-Aldana Liset Pelaez Meredith S Wright Ossama M Maher Anthony J Febres-Aldana Daria Salyakina
Mol Syndromol
December 2020
Article Synopsis
- Generalized GALE deficiency can lead to serious health issues like hypotonia, cataracts, and liver failure, while non-generalized cases might be asymptomatic with uncertain outcomes.
- A 2-year-old boy with compound heterozygous GALE mutations showed no classic galactosemia symptoms but had congenital heart issues and pancytopenia.
- The study suggests that GALE deficiency affects normal hematopoiesis and heart valve development through altered glycosylation processes due to limited substrate availability.
Article Synopsis
- Genotype-guided prescribing
- in pediatrics can reduce adverse drug reactions and enhance treatment effectiveness, with guidelines available for many frequently prescribed medications.
- - The study aimed to identify opportunities for implementing genotype-guided prescribing by analyzing the prevalence of prescribed drugs supported by strong clinical evidence across multiple health systems.
- - Data from about
- 2.9 million pediatric patients
- were analyzed to assess how often these medications were prescribed, revealing a significant opportunity for improving medication safety and efficacy through pharmacogenetic approaches.
Article Synopsis
- - The use of digital, electronic, and molecular technologies has made it possible to study entire genomes, leading to improved drug development through pharmacogenomics (PGx).
- - PGx helps doctors customize medications and dosages based on a patient's genetic makeup, enhancing treatment effectiveness, especially in pediatric care.
- - The Sanford Children's Genomic Medicine Consortium aims to incorporate PGx into pediatric healthcare, addressing gaps in existing research and offering recommendations for better integration in clinical practice.
Article Synopsis
- - Kaposi's sarcoma (KS) is a type of cancer associated with AIDS, caused by the KS herpesvirus (KSHV/HHV-8), which leads to tumor formation through both viral gene expression and changes in the host’s genetics and epigenetics.
- - Research using mouse models indicates that while the loss of KSHV before tumor formation prevents tumor growth, tumors formed from cells that lose KSHV later can still be cancerous, suggesting that the virus may induce lasting genetic changes that lead to cancer.
- - RNA-sequencing and mutations analyses show that KSHV-positive tumors have a pattern of gene regulation and mutations that differs from KSHV-negative tumors, indicating that pre-existing host mutations may
Article Synopsis
- The study aims to create algorithms for predicting unplanned readmissions (URs) in children within 3, 7, and 30 days after they leave the hospital.
- Researchers analyzed data from over 1 million pediatric admissions using advanced statistical methods to identify factors influencing readmissions.
- The prediction models showed high accuracy, particularly for the 30-day readmission risk, and a tool was developed for use in hospitals to help improve discharge planning for pediatric patients.
Article Synopsis
- The study aimed to investigate how genetic abnormalities and syndromes (GA/S) affect the outcomes of cardiac surgeries for conotruncal heart defects (CTHD) in pediatric patients.
- A total of 177 patients were analyzed, finding that those with GA/S experienced longer post-operative hospital stays and higher rates of complications, but there was no increase in mortality.
- Interestingly, the study also revealed that Black patients had significantly longer post-operative lengths of stay compared to White patients, highlighting the impact of race and ethnicity on surgical outcomes.
Article Synopsis
- The Humpty Dumpty Falls Prevention Program was created to help identify pediatric patients at risk for falls, addressing a gap in fall prevention strategies.
- The study aimed to assess the effectiveness of the Humpty Dumpty Fall Scale-Inpatient (HDFS) in predicting falls among a diverse group of children in various hospitals.
- While some items in the HDFS showed a significant link to fall risk, concerns about its specificity highlight the need for future improvements to the tool.