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Background: Dialysis disequilibrium syndrome (DDS) is a rare but significant concern in adult and pediatric patients undergoing dialysis initiation with advanced uremia or if done after an interval. It is imperative to gain insights into the epidemiological patterns, pathophysiological mechanisms, and preventive strategies aimed at averting the onset of this ailment. Design: Prospective observational quality improvement initiative cohort study. Setting and Participants: A prospective single‐center study involving 50 pediatric patients under 18 years recently diagnosed with chronic kidney disease stage V with blood urea ≥200 mg/dL, admitted to our tertiary care center for dialysis initiation from January 2017 to October 2023. Quality Improvement Plan: A standardized protocol was developed and followed for hemodialysis in pediatric patients with advanced uremia. This protocol included measures such as lower urea reduction ratios (targeted at 20%–30%) with shorter dialysis sessions and linear dialysate sodium profiling. Prophylactic administration of mannitol and 25% dextrose was also done to prevent the incidence of dialysis disequilibrium syndrome. Measures: Incidence of dialysis disequilibrium syndrome and severe dialysis disequilibrium syndrome, mortality, urea reduction ratios (URRs), neurological outcome at discharge, and development of complications such as infection and hypotension. Long‐term outcomes were assessed at the 1‐year follow‐up including adherence to dialysis, renal transplantation, death, and loss to follow‐up. Results: The median serum creatinine and urea levels at presentation were 7.93 and 224 mg/dL, respectively. A total of 20% of patients had neurological symptoms attributable to advanced uremia at the time of presentation. The incidence of dialysis disequilibrium syndrome was 4% (n = 2) with severe dialysis disequilibrium syndrome only 2% (n = 1). Overall mortality was 8% (n = 4) but none of the deaths were attributed to dialysis disequilibrium syndrome. The mean urea reduction ratios for the first, second, and third dialysis sessions were 23.45%, 34.56%, and 33.50%, respectively. The patients with dialysis disequilibrium syndrome were discharged with normal neurological status. Long‐term outcomes showed 88% adherence to dialysis and 38% renal transplantation. Limitations: This study is characterized by a single‐center design, nonrandomized approach, and limited sample size. Conclusions: Our structured protocol served as a framework for standardizing procedures contributing to low incidence rates of dialysis disequilibrium syndrome. [ABSTRACT FROM AUTHOR]

AI algorithms can help identify patients at risk of kidney disease, predict the progression of kidney disease and personalise treatment plans based on individual patient data. ChatGPT answer 2: Artificial intelligence (AI) has the potential to revolutionise kidney care by helping clinicians better predict, diagnose and treat kidney diseases. AI and kidney care ChatGPT answer 1: Artificial intelligence (AI) has the potential to revolutionise kidney care by providing more accurate and timely diagnosis, treatment, and monitoring of kidney diseases. Keywords: AI; ChatGPT EN AI ChatGPT 1844 1848 5 08/10/23 20230901 NES 230901 Abbreviations AI artificial intelligence Rapid advances have been made in artificial intelligence (AI) and researchers are constantly increasing their use of this technology. [Extracted from the article]

Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 mutations. The cohort comprises 11 new and unpublished clinical details from five previously described patients. Only two missense, homozygous, pathogenic variants were found in all affected patients, suggesting a founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations. In addition, we knocked down endogenous Drosophila GEMIN4 in neurons to further investigate the mechanism of the functional defects in affected patients. Our fly model findings demonstrated developmental defects and motor dysfunction suggesting that loss of GEMIN4 function is detrimental in vivo; likely similar to human patients. To date, this study presents the largest cohort of patients affected with GEMIN4 mutations. Considering that identifying GEMIN4 defects in patients presenting with neurodevelopmental delay and congenital cataract will help in early diagnosis, appropriate management and prevention plans that can be made for affected families. [ABSTRACT FROM AUTHOR]

Kidney transplantation is the most effective treatment for pediatric kidney failure. The ideal age and weight for very young children, especially infants and toddlers, is a topic of debate among specialists. Early kidney transplantation offers benefits such as improved growth, cognitive development, psychosocial outcomes, and overall quality of life. It also reduces the need for prolonged dialysis and associated complications. However, there are challenges such as limited donor availability and surgical complexity. A recent study found that kidney transplantation in children under the age of two is associated with enhanced patient survival and reduced exposure to dialysis compared to waiting until the age of two or older. However, the study has limitations, including a restricted follow-up duration and potential selection bias. Overall, early kidney transplantation shows promise but further research is needed to refine selection criteria and improve post-transplant care. [Extracted from the article]

Background/Aim: Several PK studies have shown that most pediatric patients may require higher doses on a mg/kg basis compared to adults to attain similar therapeutic trough concentrations. The aim of this study was to compare the efficacy and safety of three times daily to twice a day dosing of tacrolimus in pediatric kidney transplant recipients at a major tertiary care transplant center. Methods and Materials: Retrospective, single‐center, and comparative cohort study. All pediatric kidney transplant recipients received either tacrolimus BID (group 1) or tacrolimus TID (group 2). Results: A total of 87 patients were included in this study; 48 patients received BID tacrolimus (group 1), and 39 patients received TID tacrolimus (group 2). The percentage of patients who achieved therapeutic trough concentrations in group 2 did not significantly differ from those in group 1 at day 7 (84.62% TID vs 83.33% BID; P =.42). The median time to reach therapeutic trough concentrations was three days in group 1 compared to four days in group 2. Conclusion: No significant difference was observed between tacrolimus BID and TID dosing in the time to reach therapeutic trough concentration or in the proportion of patients achieving therapeutic trough concentrations at day 7. [ABSTRACT FROM AUTHOR]

Sphingosine‐1‐phosphate (S1P) lyase is a vitamin B6‐dependent enzyme that degrades sphingosine‐1‐phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphingosine phosphate lyase (SPL). This condition is referred to as SPL insufficiency syndrome (SPLIS) or alternatively as nephrotic syndrome type 14 (NPHS14). Patients with SPLIS exhibit lymphopenia, nephrosis, adrenal insufficiency, and/or neurological defects. No targeted therapy for SPLIS has been reported. Vitamin B6 supplementation has therapeutic activity in some genetic diseases involving B6‐dependent enzymes, a finding ascribed largely to the vitamin's chaperone function. We investigated whether B6 supplementation might have activity in SPLIS patients. We retrospectively monitored responses of disease biomarkers in patients supplemented with B6 and measured SPL activity and sphingolipids in B6‐treated patient‐derived fibroblasts. In two patients, disease biomarkers responded to B6 supplementation. S1P abundance and activity levels increased and sphingolipids decreased in response to B6. One responsive patient is homozygous for an SPL R222Q variant present in almost 30% of SPLIS patients. Molecular modeling suggests the variant distorts the dimer interface which could be overcome by cofactor supplementation. We demonstrate the first potential targeted therapy for SPLIS and suggest that 30% of SPLIS patients might respond to cofactor supplementation. [ABSTRACT FROM AUTHOR]

Introduction: Recently, prolonged intermittent renal replacement therapies (PIRRT) have emerged as cost‐effective alternatives to conventional CRRT and their use in the pediatric population has started to become more prominent. However, there is a lack of consensus guidelines on the use of PIRRT in pediatric patients in an intensive care setting. Methods: A literature search was performed on PubMed/Medline, Embase, and Google Scholar in conjunction with medical librarians from both India and the Cleveland Clinic hospital system to find relevant articles. The Pediatric Continuous Renal Replacement Therapy workgroup analyzed all articles for relevancy, proposed recommendations, and graded each recommendation for their strength of evidence. Results: Of the 60 studies eligible for review, the workgroup considered data from 37 studies to formulate guidelines for the use of PIRRT in children. The guidelines focused on the definition, indications, machines, and prescription of PIRRT. Conclusion: Although the literature on the use of PIRRT in children is limited, the current studies give credence to their benefits and these expert recommendations are a valuable first step in the continued study of PIRRT in the pediatric population. [ABSTRACT FROM AUTHOR]

Key Clinical Message: Hydrothorax is a serious complication of peritoneal dialysis, and it may be resolved by deferring dialysis or decreasing dialysate volumes. Repeat thoracentesis is not well tolerated in children. Therefore, if conservative measures fail, thoracotomy or thoracoscopy with endoscopic repair of associated diaphragmatic eventration should be considered before reinstating peritoneal dialysis. Hydrothorax is a serious complication of peritoneal dialysis, and it may be resolved by deferring dialysis or decreasing dialysate volumes. Repeat thoracentesis is not well tolerated in children. Therefore, if conservative measures fail, thoracotomy or thoracoscopy with endoscopic repair of associated diaphragmatic eventration should be considered before reinstating peritoneal dialysis. [ABSTRACT FROM AUTHOR]