Novel enhancer mediates the readthrough loci and gene expressions associated with fabry disease.

Fabry disease (FD) is a rare genetic condition caused by mutations in the gene, located on the X chromosome in the readthrough genomic region. This gene produces an enzyme called alpha-galactosidase A (α-Gal A). When the enzyme does not function properly due to the mutations, it causes harmful substances called globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to build up in the body's lysosomes.

Change in Urinary Inflammatory Biomarkers and Psychological Health with Gut Microbiome Modulation after Six Months of a Lifestyle Modification Program in Children.

Obesity is a metabolic disorder that negatively impacts the quality of life. Long-term methods such as exercise and low-fat diets can help regulate this health issue, but 93.3 million Americans continue to struggle.

Restorative yoga therapy for third-year medical students in pediatrics rotation: Working to improve medical student well-being.

Background: Stress experienced by medical students is a well-documented and widespread phenomenon that may have physical and psychological effects on their well-being. One solution is to provide students with the tools to recognize and cope with stress. The aim of this study was to incorporate restorative yoga training-a well-recognized tool for stress reduction-in the third-year medical student pediatrics clerkship and assess the intervention's impact on students' well-being.

Pregnancy History and Kidney Disease Progression Among Women Enrolled in Cure Glomerulonephropathy.

Introduction: Preeclampsia increases the risk for future chronic kidney disease (CKD). Among those diagnosed with CKD, it is unclear whether a prior history of preeclampsia, or other complications in pregnancy, negatively impact kidney disease progression. In this longitudinal analysis, we assessed kidney disease progression among women with glomerular disease with and without a history of a complicated pregnancy.

Clinical presentation and management of nephrotic syndrome in the first year of life: A report from the Pediatric Nephrology Research Consortium.

Background And Objectives: Nephrotic syndrome (NS) in the first year of life is called congenital (CNS) if diagnosed between 0-3 months, or infantile (INS) if diagnosed between 3-12 months of age. The aim of this study was to determine if there were clinically meaningful differences between CNS and INS patients, regarding clinical presentation, management and outcomes.

Design Setting Participants And Measurements: Eleven Pediatric Nephrology Research Consortium sites participated in the study, using IRB-approved retrospective chart reviews of CNS and INS patients born between 1998 and 2019.

The potential consequences of bidirectional promoter methylation on and expression in Fabry disease phenotypes in a family of patients carrying a deletion variant.

Fabry disease (FD) is a rare inherited disease characterized by a wide range of symptoms attributed to mutations resulting in defective α-galactosidase A (α-Gal A) and accumulation of glycosphingolipids. The locus is paired in a divergent manner with the heterogeneous nuclear ribonucleoprotein locus mapped in the readthrough locus. As a follow-up to our recent finding of the co-regulation of and via a bidirectional promoter (BDP) in normal kidney and skin cells, the potential accumulative influence of BDP methylation and mutation on the severity of FD in patients from the same family, two males and two females carrying a deletion mutation, c.

A Case of Pediatric Posterior Reversible Encephalopathy Syndrome (PRES) Secondary to Post-streptococcal Glomerulonephritis: A Literature Review and Assessment of Treatment Modalities.

Posterior reversible encephalopathy syndrome (PRES) is a disorder that most commonly affects adults, and is characterized by neurologic symptoms such as encephalopathy, seizures, headaches, and visual disturbances. It usually occurs in the context of other systemic disturbances that result in hypertensive crises, such as renal failure, cytotoxic drugs, and autoimmune conditions. In children, it rarely manifests following chemotherapy induction or hematopoietic stem cell transplantation.

Congenital nephrotic syndrome in a Hispanic Guatemalan newborn associated with a variant: A case report.

Congenital nephrotic syndrome (CNS) is an autosomal recessive disorder usually detected in the first 3 months of life when the syndromes effects manifest, including edema and a failure to gain weight. A baby boy was admitted to the Neonatal Intensive Care Unit for prematurity (35 weeks) with unremarkable maternal prenatal laboratory tests. The patient had persistent systemic hypertension, hypoproteinemia, hypoalbuminemia and nephrotic range proteinuria.

Unexplored regulatory sequences of divergently paired and loci pertinent to Fabry disease in human kidney and skin cells: Presence of an active bidirectional promoter.

Fabry disease (FD) is a rare hereditary disorder characterized by a wide range of symptoms caused by a variety of mutations in the galactosidase α () gene. The heterogeneous nuclear ribonucleoprotein () gene is divergently paired with on chromosome X and is thought to be implicated in FD. However, insufficient information is available on the regulatory mechanisms associated with the expression of and the loci.

Dysbiosis of Gram-negative gut microbiota and the associated serum lipopolysaccharide exacerbates inflammation in type 2 diabetic patients with chronic kidney disease.

Lipopolysaccharide (LPS), a potent endotoxin present in the outer membrane of Gram-negative bacteria, causes chronic immune responses associated with inflammation. In the present study, the association between LPS and the dysbiosis of Gram-negative bacteria in the gut microbiome was determined in patients with type 2 diabetes mellitus (T2DM) and chronic kidney disease (T2DM-CKD; stages 4 and 5, not on dialysis) compared with healthy individuals. Microbiome diversity was analyzed in patients with T2DM-CKD and healthy controls by sequencing the hypervariable sub-regions of the 16S ribosomal RNA gene from stool samples.

National Trends in the Epidemiology and Resource Use for Henoch-Schönlein Purpura (IgA Vasculitis) Hospitalizations in the United States From 2006 to 2014.

Objectives: We examined the trends in the rate of Henoch-Schönlein purpura (HSP) hospitalizations and the associated resource use among children in the United States from 2006 through 2014.

Methods: Pediatric hospitalizations with HSP were identified by using , code 287.0 from the National Inpatient Sample.

Prevalence of Cardiovascular Disease Risk Factors in Childhood Glomerular Diseases.

Background Cardiovascular disease is a major cause of morbidity and mortality in children with chronic kidney disease. We sought to determine the prevalence of cardiovascular risk factors in children with glomerular disease and to describe current practice patterns regarding risk factor identification and management. Methods and Results Seven-hundred sixty-one children aged 0 to 17 years with any of 4 biopsy-confirmed primary glomerular diseases (minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, and IgA nephropathy/vasculitis) were enrolled at a median of 16 months from glomerular disease diagnosis in the multicenter prospective Cure Glomerulonephropathy Network study.

Developing a Research Mentorship Program: The American Society of Pediatric Nephrology's Experience.

Most pediatric nephrologists work in academia. Mentor-mentee relationships provide support and guidance for successful research career. Mentorship program implementation is valuable in medical fields for providing research opportunities to young faculty.

GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (ESKD). Polycystic kidney disease-3 (PKD3), another form of ADPKD, is caused by mutations in glucosidase II alpha subunit (GANAB) gene and present in mid- and late adulthood.

Clinical Characteristics and Treatment Patterns of Children and Adults With IgA Nephropathy or IgA Vasculitis: Findings From the CureGN Study.

Introduction: The Cure Glomerulonephropathy Network (CureGN) is a 66-center longitudinal observational study of patients with biopsy-confirmed minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, or IgA nephropathy (IgAN), including IgA vasculitis (IgAV). This study describes the clinical characteristics and treatment patterns in the IgA cohort, including comparisons between IgAN versus IgAV and adult versus pediatric patients.

Methods: Patients with a diagnostic kidney biopsy within 5 years of screening were eligible to join CureGN.

Association of infections and venous thromboembolism in hospitalized children with nephrotic syndrome.

Background: Nephrotic syndrome (NS) results in hypercoagulability and increased risk of infection. Furthermore, infection increases the risk of venous thromboembolism (VTE). Our objective was to determine the prevalence of infection, VTE, and the associated outcomes among a cohort of hospitalized children with NS.

Possible Correlation between Hypomelanosis of Ito and Wilms' Tumor.

Hypomelanosis of Ito is a neurocutaneous disorder characterized by skin manifestations in a characteristic pattern associated with musculoskeletal and central nervous system symptoms. Our patient was diagnosed with Wilms' tumor stage I at age two and was also found to have distinct streaked areas of skin hyper- and hypopigmentation suggestive of Hypomelanosis of Ito. We believe that our patient's clinical diagnoses of Hypomelanosis of Ito and Wilms' tumor are interlinked.

Gut Microbiota-Dependent Trimethylamine-N-oxide and Serum Biomarkers in Patients with T2DM and Advanced CKD.

Trimethylamine--oxide (TMAO) is a product of dietary, gut microbiome, and tissues metabolism. Elevated blood TMAO levels are associated with heart attack, stroke and chronic kidney disease (CKD). The purpose of our study was to investigate the gut microbiota associated with trimethylamine (TMA) production, the precursor of TMAO, and the serum levels of TMAO and inflammatory biomarkers associated with type 2 diabetes mellitus (T2DM) and CKD.

Urinary biomarkers as indicator of chronic inflammation and endothelial dysfunction in obese adolescents.

Background: Obesity is a pro-inflammatory state that may predispose patients to acute coronary syndrome characterized by chronic low grade inflammation resulting in endothelial dysfunction (ED). The aim of the study was to evaluate urinary biomarkers of inflammation and ED in adolescents with obesity.

Methods: Sixty three subjects were recruited for the study.

Gut Microbiome and Kidney Disease in Pediatrics: Does Connection Exist?

Child development is a unique and continuous process that is impacted by genetics and environmental factors. Gut microbiome changes with development and depends on the stage of gut maturation, nutrition, and overall health. In spite of emerging data and active study in adults, the gut-renal axis in pediatrics has not been well considered and investigated.