Background
Cancer risk has been associated with certain gene variations in microRNA (miRNA), but conflicting evidence warrants re‐assessing of significant results in meta‐analyses. We summarized ...published meta‐analyses that assess the associations between miRNA polymorphism and cancers to show the validity of the findings.
Method
We searched PubMed and investigated the results of meta‐analyses published through November 2018. We re‐assessed the results based on false‐positive report probability (FPRP) to test the noteworthiness of the associations.
Results
Sixty‐eight miRNA polymorphisms in 45 meta‐analyses associated with cancer were included. Four (7.4%) and sixteen (25.0%) single nucleotide polymorphisms (SNPs) were noteworthy (FPRP < 0.2) at a prior probability of 0.001 for interesting candidate genes and a statistical power to detect an odds ratio (OR) of 1.1 and 1.5, respectively. The four miRNA SNPs noteworthy at an OR of 1.1 were as follows: miR‐146a/rs2910164 Cvs.G; miR‐27a/rs895819 Cvs.T; miR‐423/rs6505162 Cvs.A; and miR‐605/rs2043556 Cvs.T. The 16 SNPs noteworthy at an OR of 1.5 include the four genotype comparisons at an OR of 1.1, and the additional 12 genotype comparisons were as follows: miR‐196a2/rs11614913 Tvs.C; miR‐27a/rs895819 GGvs.AA + AG; miR‐196a2/rs11614913 C vs.T; miR‐146a/rs2910164 Gvs.C; miR‐196a2/rs11614913 Tvs.C; miR‐146a/rs2910164 Cvs.G; miR‐499/rs3746444 homozygous model; miR‐146a/rs2910164 CCvs.GG + GC; miR‐499/rs3746444 TCvs.TT; miR‐499/rs3746444 GAvs.AA; miR‐146a/rs2910164 CCvs.GG; and miR‐499/rs3746444 Gvs.A. No association was noteworthy at a prior probability of 0.000001.
Conclusion
Out of 68 published associations of miRNA polymorphisms with cancer, sixteen have shown noteworthiness in our re‐assessing meta‐analysis. Our findings summarize the results of meta‐analyses on the association of cancer with SNPs and underline the importance of interpreting results with caution.
The genotype-phenotype correlation of the X-linked Alport syndrome (XLAS) has been well elucidated in males, whereas it remains unclear in females. In this multicenter retrospective study, we ...analyzed the genotype-phenotype correlation in 216 Korean patients (male:female = 130:86) with XLAS between 2000 and 2021. The patients were divided into three groups according to their genotypes: the non-truncating group, the abnormal splicing group, and the truncating group. In male patients, approximately 60% developed kidney failure at the median age of 25.0 years, and kidney survival showed significant differences between the non-truncating and truncating groups (P < 0.001, hazard ratio (HR) 2.8) and splicing and truncating groups (P = 0.002, HR 3.1). Sensorineural hearing loss was detected in 65.1% of male patients, while hearing survival periods showed a highly significant difference between the non-truncating and truncating groups (P < 0.001, HR 5.1). In female patients, approximately 20% developed kidney failure at the median age of 50.2 years. The kidney survival was significantly different between the non-truncating and truncating groups (P = 0.006, HR 5.7). Our findings support the presence of genotype-phenotype correlation not only in male patients but also in female patients with XLAS.
Dapsone is an aniline derivative belonging to the group of synthetic sulfones 6. Because of its antimycobacterial, antiprotozoal, and anti-inflammatory effects, dapsone has been used as a first-line ...or adjunctive therapy for chronic inflammatory dermatoses such as leprosy, chronic urticaria, cutaneous lupus erythematosus, and IgA pemphigus 7. Dapsone must be used with cautious in patients with glucose-6-phosphate dehydrogenase deficiency, pulmonary diseases, heart failure, severe hepatopathy, and comedication with methemoglobinemia-inducing drugs 6. ...before drug initiation, routine evaluations including complete blood count, liver enzymes, urinalysis, and serologic tests for hepatitis, methemoglobinemia, and glucose-6-phosphate dehydrogenase are recommended6. 5, relapse rates after the discontinuation of dapsone were not low. ...clinicians and their patients are at risk of experiencing serious side effects such as agranulocytosis or hypersensitivity syndrome when dapsone therapy is used repeatedly.
The Korean Society for Electrolyte and Blood Pressure Research, in collaboration with the Korean Society of Nephrology, has published a clinical practice guideline (CPG) document for hyponatremia ...treatment. The document is based on an extensive evidence-based review of the diagnosis, evaluation, and treatment of hyponatremia with the multidisciplinary participation of representative experts in hyponatremia with methodologist support for guideline development. This CPG consists of 12 recommendations (two for diagnosis, eight for treatment, and two for special situations) based on eight detailed topics and nine key questions. Each recommendation begins with statements graded by the strength of the recommendations and the quality of the evidence. Each statement is followed by rationale supporting the recommendations. The committee issued conditional recommendations in favor of rapid intermittent bolus administration of hypertonic saline in severe hyponatremia, the use of vasopressin receptor antagonists in heart failure with hypervolemic hyponatremia, and syndrome of inappropriate antidiuresis with moderate to severe hyponatremia, the individualization of desmopressin use, and strong recommendation on the administration of isotonic fluids as maintenance fluid therapy in hospitalized pediatric patients. We hope that this CPG will provide useful recommendations in practice, with the aim of providing clinical support for shared decision-making to improve patient outcomes.
Background
Children with nephrotic syndrome (NS) are at an increased risk of acute kidney injury (AKI) and the incidence of AKI in this population is reportedly increasing. This study aimed to ...investigate the incidence, clinical profiles, and risk factors of AKI in hospitalized children with NS through a nationwide study.
Methods
This retrospective multicenter study included 14 pediatric nephrology centers in Korea. From 2013 to 2017, a total of 814 patients with idiopathic NS were cared for at participating centers. Among them, 363 patients were hospitalized for NS and investigated in this study.
Results
A total of 363 children with NS were hospitalized 574 times. AKI occurred in 93 admissions (16.2%) of 89 patients: 30 (32.3%) stage 1; 24 (25.8%) stage 2; and 39 (41.9%) stage 3. Multivariate logistic regression analysis showed that longer disease duration, lower albumin level, and methylprednisolone pulse treatment were significantly associated with AKI development in hospitalized children with NS. AKI was associated with a longer hospital stay than non-AKI (median 10 vs. 7 days,
P
= 0.001). Among 93 admissions, 85 (91.4%) episodes recovered from AKI without complication, whereas 6 (6.5%) progressed to advanced chronic kidney disease (CKD).
Conclusions
AKI is not uncommon in hospitalized children with NS, and its incidence in this nationwide study was 16.2%. Risk factors for AKI in hospitalized children with NS include longer disease duration, lower albumin level, and methylprednisolone pulse therapy. Pediatric NS patients with these characteristics should be under more strict scrutiny for the occurrence of AKI.
Graphical abstract
Chronic kidney disease–mineral bone disorder (CKD–MBD) is a systemic disorder of mineral and bone metabolism caused by CKD. Patients with early-stage CKD who present with disordered regulation of ...bone and mineral metabolism may be asymptomatic. However, if untreated, the condition can be a significant barrier in achieving optimal bone strength, linear growth, and cardiovascular health in pediatric patients with CKD. Thus, the current study evaluated the definition, pathogenesis, diagnosis, and management of pediatric CKD-MBD.
The Korean Society for Electrolyte and Blood Pressure Research, in collaboration with the Korean Society of Nephrology, has published a clinical practice guideline (CPG) document for hyponatremia ...treatment. The document is based on an extensive evidence-based review of the diagnosis, evaluation, and treatment of hyponatremia with the multidisciplinary participation of representative experts in hyponatremia with methodologist support for guideline development. This CPG consists of 12 recommendations (two for diagnosis, eight for treatment, and two for special situations) based on eight detailed topics and nine key questions. Each recommendation begins with statements graded by the strength of the recommendations and the quality of the evidence. Each statement is followed by rationale supporting the recommendations. The committee issued conditional recommendations in favor of rapid intermittent bolus administration of hypertonic saline in severe hyponatremia, the use of vasopressin receptor antagonists in heart failure with hypervolemic hyponatremia, and syndrome of inappropriate antidiuresis with moderate to severe hyponatremia, the individualization of desmopressin use, and strong recommendation on the administration of isotonic fluids as maintenance fluid therapy in hospitalized pediatric patients. We hope that this CPG will provide useful recommendations in practice, with the aim of providing clinical support for shared decision-making to improve patient outcomes.
Background
Immunoglobulin A nephropathy (IgAN) is one of the most common primary forms of glomerulonephritis, while IgA vasculitis (IgAV) is the most common systemic vasculitis in children.
Objective
...Herein we aimed to uncover single nucleotide polymorphism (SNP) markers associated with these two related diseases by applying association tests and Sanger sequencing.
Methods
Within the discovery stage, genomic DNA in blood samples from 101 enrolled patients were genotyped by the Korean Biobank Array. Association tests were performed with 397 Korean reference genomes. In the validation stage, 26 independent samples were genotyped by Sanger sequencing.
Results
Four SNPs were identified (P < 5 × 10
–8
) in the discovery stage. To determine whether the genotypes determined by SNP array were accurate, additional genotyping via Sanger sequencing was performed. As a result, only one SNP, rs9428555, was properly genotyped. In the validation stage, the minor allele (A > G) was found in as many as 15 out of 26 samples (minor allele frequency = 0.288), even though this minor allele is rare in East Asians (< 3%).
Conclusions
We found rs9428555 as a novel susceptible locus associated with the development of both IgAN and IgAV in Koreans. Though we cannot conclude rs9428555 is the unique susceptible locus of IgAN and IgAV, it is likely a good marker as the minor allele of this SNP occurred much more often in the patient group here versus within East Asians as a whole.
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