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Supplemental material, sj-docx-1-cnr-10.1177_10547738221085613 for Severity, Risk Factors and Quality of Life of Patients associated with Chemotherapy-Induced Peripheral Neuropathy by Saumya P. Srivastava, Aditi Prashant Sinha, Kamlesh Kumari Sharma and Prabhat Singh Malik in Clinical Nursing Research

Idiopathic nephrotic syndrome newly affects 1–3 per 100,000 children per year. Approximately 85% of cases show complete remission of proteinuria following glucocorticoid treatment. Patients who do not achieve complete remission within 4–6 weeks of glucocorticoid treatment have steroid-resistant nephrotic syndrome (SRNS). In 10–30% of steroid-resistant patients, mutations in podocyte-associated genes can be detected, whereas an undefined circulating factor of immune origin is assumed in the remaining ones. Diagnosis and management of SRNS is a great challenge due to its heterogeneous etiology, frequent lack of remission by further immunosuppressive treatment, and severe complications including the development of end-stage kidney disease and recurrence after renal transplantation. A team of experts including pediatric nephrologists and renal geneticists from the International Pediatric Nephrology Association (IPNA), a renal pathologist, and an adult nephrologist have now developed comprehensive clinical practice recommendations on the diagnosis and management of SRNS in children. The team performed a systematic literature review on 9 clinically relevant PICO (Patient or Population covered, Intervention, Comparator, Outcome) questions, formulated recommendations and formally graded them at a consensus meeting, with input from patient representatives and a dietician acting as external advisors and a voting panel of pediatric nephrologists. Research recommendations are also given., 論文

Coronavirus Disease 2019 has spread from China as a global pandemic, Italy being one of the earliest affected countries. The infection displays a more complicated and often fatal course in adults with a history of kidney disease, while it does not seem to affect children in the same way. Pediatric patients with idiopathic nephrotic syndrome (INS), with or without chronic immunosuppressive therapy, are at greater risk of infections which may also trigger relapses.We performed a systematic review of the literature to identify all articles on SARS-CoV-2 infections in children with INS in order to describe the severity of all SARS-CoV-2 infections reported in children with INS, to evaluate the risk of new onset and relapses associated with SARS-CoV-2 infection, and to draw recommendations on their management and vaccination. The search was conducted on the following databases: MEDLINE (via Pubmed), Google Scholar, and Web of Science. The search methodology used with the selected free text terms or MesH was ("nephrotic syndrome" OR "idiopathic nephrotic syndrome") and ("covid 19" OR "severe acute respiratory syndrome coronavirus 2" OR "2019-nCoV" OR "SARS-CoV-2").The literature search provided 36 records. After screening for their relevance to the topic, 11 studies were selected. Two additional publications were identified through the reference list of all included articles and 13 articles were included in the review. A total of 43 cases of children with INS and SARS-CoV-2 infection have been reported; the course of the disease was mild for most patients with low need of respiratory support and no death in high income countries. In 5 patients, the infection was complicated by relapse, which anyway showed a good response to steroids. Two children had a new onset of INS during a SARS-CoV-2 infection.Children with INS, with or without immunosuppression, are not at higher risk of severe SARS-CoV-2 infection. Relapse is a possible complication, but steroid treatment is safe and effective. After summarizing the evidence, we have suggested recommendations for the management of children with INS during the pandemic and the vaccination campaign.

Additional file 1: Figure S1. Flow chart representing study design. Figure S2. Geographical distribution of patients harboring malaria associated AKI. Data was not available for 9 samples (3 controls, 6 cases). Table S1. Oligonucleotide sequences for Plasmodium species used for PCR amplification using the standardized conditions. Table S2. BLAST results of Sanger sequenced PCR products of Plasmodium knowlesi.

INTRODUCTION: Galloway-Mowat syndrome (GAMOS) is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease, manifesting with proteinuria. To identify additional monogenic disease causes, we subjected three affected siblings of an Indian family with GAMOS to mutation analysis. METHODS: We performed whole exome sequencing (WES), linkage analysis, and homozygosity mapping. RESULTS: Applying established criteria for variant filtering, we identify a novel homozygous splice site mutation in the gene WDR4 as the likely disease-causing mutation in this family. In line with previous reports, we observe growth deficiency, microcephaly, developmental delay, and intellectual disability as phenotypic features resulting from WDR4 mutations. However, the newly identified allele additionally gives rise to proteinuria and nephrotic syndrome, a phenotype that was never reported in patients with WDR4 mutations. CONCLUSION: Our data expand the phenotypic spectrum of WDR4 mutations by demonstrating that, depending on the specific mutated allele, a renal phenotype may be present. This finding suggests that GAMOS may occupy a phenotypic spectrum with other microcephalic diseases. Furthermore, WDR4 is an additional example of a gene that encodes a tRNA modifying enzyme and gives rise to GAMOS, if mutated. Our findings thereby support the recent observation that, like neurons, podocytes of the renal glomerulus are particularly vulnerable to cellular defects resulting from altered tRNA modifications.

Background & objectives: Vitamin D deficiency with a resurgence of rickets and tetany are increasingly being reported in young infants from temperate regions, African Americans and also from India. The data on vitamin D status of healthy term breastfed Indian infants and mothers are scant. Therefore, we undertook this study to determine the prevalence of vitamin D deficiency and insufficiency [serum 25 hydroxyvitamin D (25OHD) ≤ 15 ng/ml and 15-20 ng/ml, respectively] among healthy term breastfed 3 month old infants and their mothers, evaluate for clinical and radiological rickets in those infants having 25OHD < 10 ng/ml, and check for seasonal variation and predictors of infants’ vitamin D status. Methods: A total of 98 infants aged 2.5 to 3.5 months, born at term with appropriate weight and their mothers were enrolled; 47 in winter (November- January) and 51 in summer (April-June). Details of infants’ feeding, vitamin D supplementation, sunlight exposure and mothers’ calcium and vitamin D intake were recorded. Serum calcium, phosphate, alkaline phosphatase, 25 hydroxyvitamin D (25OHD) and parathormone were estimated. Results: Vitamin D deficiency was found in 66.7 per cent of infants and 81.1 per cent of mothers; and insufficiency in an additional 19.8 per cent of infants and 11.6 per cent of mothers. Radiological rickets was present in 30.3 per cent of infants with 25OHD < 10 ng/ml. 25OHD did not show seasonal variation in infants but maternal concentrations were higher in summer [11.3 (2.5 - 31) ng/ml] compared to winter [5.9 (2.5-25) ng/ml, P=0.003]. Intake of vitamin supplement, sunlight exposure and mother’s 25OHD were predictors of infants’ 25OHD levels. Interpretation & conclusions: Prevalence of vitamin D deficiency and insufficiency was found to be high in breastfed infants and their mothers, with radiological rickets in a third of infants with 25OHD < 10 ng/ml in this study. Studies with large sample need to be done in different parts of the country to confirm these findings.

Background: Children with chronic kidney disease (CKD), requiring dialysis or kidney transplantation, have a mortality rate of up to 30-fold higher than the general aged-matched population, and severely impaired quality of life. Symptoms such as fatigue and pain are prevalent and debilitating. Children with CKD are at risk of cognitive impairment, and poorer educational, vocational, and psychosocial outcomes compared with their well peers, which have consequences through to adulthood. Treatment regimens for children with CKD are long-term, complex, and highly intrusive. While many trials have been conducted to improve outcomes in children with CKD, the outcomes measured and reported are often not relevant to patients and clinicians, and are highly variable. These problems can diminish the value of trials as a means to improve the lives of children with CKD. The Standardised Outcomes in Nephrology—Children and Adolescents (SONG-Kids) study aims to develop a core outcome set for trials in children and adolescents with any stage of CKD that is based on the shared priorities of all stakeholders. Methods/Design: SONG-Kids involves five phases: a systematic review to identify outcomes (both domains and measures) that have been reported in randomised controlled trials involving children aged up to 21 years with CKD; focus groups (using nominal group technique) with adolescent patients and caregivers of paediatric patients (all ages) to identify outcomes that are relevant and important to patients and their family and the reasons for their choices; semistructured key informant interviews with health professionals involved in the care of children with CKD to ascertain their views on establishing core outcomes in paediatric nephrology; an international three-round online Delphi survey with patients, caregivers, clinicians, researchers, policy-makers, and members from industry to develop consensus on important outcome domains; and a stakeholder workshop to review and finalise the set of core outcome domains for trials in children with CKD (including nondialysis-dependent, dialysis, and kidney transplantation). Discussion: Establishing a core outcome set to be reported in all trials conducted in children with any stage of CKD will enhance the relevance, transparency, and impact of research to improve the lives of children and adolescents with CKD.