keyword
MENU ▼
Read by QxMD icon Read
search

SRNS

keyword
https://www.readbyqxmd.com/read/28712774/characterization-of-nphs2-gene-polymorphisms-associated-to-steroid-resistance-nephrotic-syndrome-in-indian-children
#1
Bhoomi B Joshi, Kinnari N Mistry, Sishir Gang, Prakash G Koringa, Chaitanya G Joshi
Nephrotic syndrome (NS) is the common glomerular disease in children. These children are treated with steroids, depending upon their behavior. They are either steroid sensitive (SSNS) or steroid resistant (SRNS). NPHS2 gene mutants are linked to the risk of autosomal recessive SRNS and in some cases to SSNS. The present study has been performed to screen single nucleotide polymorphisms (SNPs) of the NPHS2 gene in a group of 90 Indian children suffering with NS (30 SSNS, 30 SRNS and 30 Controls) by PCR method followed by direct exon sequencing...
July 13, 2017: Gene
https://www.readbyqxmd.com/read/28639503/markers-of-disease-and-steroid-responsiveness-in-paediatric-idiopathic-nephrotic-syndrome-whole-transcriptome-sequencing-of-peripheral-blood-mononuclear-cells
#2
Hee Gyung Kang, Heewon Seo, Jae Hyun Lim, Jong Il Kim, Kyoung Hee Han, Hye Won Park, Ja Wook Koo, Kee Hyuck Kim, Ju Han Kim, Hae Il Cheong, Il-Soo Ha
Objective To identify markers of disease and steroid responsiveness in paediatric idiopathic nephrotic syndrome. Methods Whole-transcriptome sequencing was performed of peripheral blood mononuclear cells (PBMCs) from patients with NS. Differentially expressed genes (DEGs) were identified in patients with active NS vs those in remission, and those with steroid-sensitive NS (SSNS) vs steroid-resistant NS (SRNS). Results A total of 1065 DEGs were identified in patients with NS ( n = 10) vs those in remission ( n = 9)...
June 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28630858/pulsed-vincristine-therapy-in-steroid-resistant-nephrotic-syndrome
#3
Shenal Thalgahagoda, Shamali Abeyagunawardena, Heshan Jayaweera, Umeshi Ishanthika Karunadasa, Asiri Samantha Abeyagunawardena
Steroid-resistant nephrotic syndrome (SRNS) poses a therapeutic challenge for the paediatric nephrologist. As relentless progression to renal failure occurs with continued proteinuria, such patients will be treated with different cytotoxic medications with variable success rates and side-effects. We present here our findings on administering the anticancer drug vincristine for SRNS patients at a single centre in Sri Lanka. Methods. Between 2002 and 2007, fifty-four children presenting with steroid and cyclophosphamide resistance were treated with vincristine at 1...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28615961/the-role-of-novel-biomarkers-in-childhood-idiopathic-nephrotic-syndrome-a-narrative-review-of-published-evidence
#4
REVIEW
Samuel N Uwaezuoke
Two histological subtypes of idiopathic nephrotic syndrome are commonly recognized in children, namely minimal change nephropathy and focal segmental glomerulosclerosis. Children with minimal change nephropathy (the majority of whom are steroid-sensitive) and focal segmental glomerulosclerosis (the majority of whom are steroid-resistant) require early identification in order to ensure appropriate therapeutic intervention and better outcome. Although renal biopsy and histology remain the ideal diagnostic steps to identify these histological subtypes, reports indicate that serum and urinary biomarkers are now being utilized in the investigation of childhood idiopathic nephrotic syndrome...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28529802/r229q-polymorphism-of-nphs2-gene-in-group-of-iraqi-children-with-steroid-resistant-nephrotic-syndrome
#5
Shatha Hussain Ali, Rasha Kasim Mohammed, Hussein Ali Saheb, Ban A Abdulmajeed
Background. The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS). Aim of the Study. We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS). Patients and Methods. A prospective case control study which was conducted in Al-Imamein Al-Kadhimein Medical City, spanning the period from the 1st of April 2015 to 30th of November 2015. Study sample consisted of 54 children having NS, divided into 2 groups: patients group consisted of 27 children with SRNS, and control group involved 27 children with SSNS...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28483237/biochemical-alteration-in-children-with-idiopathic-nephrotic-syndrome-associated-with-an-increased-risk-of-sensorineural-hearing-loss-additional-insights-in-cochlear-renal-relationship
#6
Ghada Mohamed El Mashad, Wafaa Moustafa M Abo El Fotoh, Ahmed Mahmoud Zein El Abedein, Fatma Abd El Raoof Abd El Sadek
OBJECTIVES: Children with Idiopathic Nephrotic Syndrome (INS) are at risk of hearing loss due to the adverse impact of medications and related immunological and genetic factors on both cochlea and kidney. So this work was planned to evaluate hearing status in children with INS and to clarify the possible associated risk factors by interpreting the clinical and laboratory profiles of those children. METHODS: Ninety children with INS aged 5-14 years [30 patients with steroid-sensitive nephrotic syndrome (SSNS), 30 patients with steroid dependent/frequently relapsing nephrotic syndrome (SDNS/FRNS), and 30 patients with steroid-resistant nephrotic syndrome (SRNS)], and 90 age and sex matched normal controls were enrolled into this study...
June 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28476686/mutation-spectrum-of-genes-associated-with-steroid-resistant-nephrotic-syndrome-in-chinese-children
#7
Ying Wang, Xiqiang Dang, Qingnan He, Yan Zhen, Xiaoxie He, Zhuwen Yi, Kuichun Zhu
Approximately 20% of children with idiopathic nephrotic syndrome do not respond to steroid therapy. More than 30 genes have been identified as disease-causing genes for the steroid-resistant nephrotic syndrome (SRNS). Few reports were from the Chinese population. The coding regions of genes commonly associated with SRNS were analyzed to characterize the gene mutation spectrum in children with SRNS in central China. The first phase study involved 38 children with five genes (NPHS1, NPHS2, PLCE1, WT1, and TRPC6) by Sanger sequencing...
August 20, 2017: Gene
https://www.readbyqxmd.com/read/28469399/a-novel-biomarker-panel-to-identify-steroid-resistance-in-childhood-idiopathic-nephrotic-syndrome
#8
Michael R Bennett, LaTawnya Pleasant, Christopher Haffner, Qing Ma, Wendy D Haffey, Jun Ying, Michael Wagner, Kenneth D Greis, Prasad Devarajan
Idiopathic nephrotic syndrome (NS) is the most common glomerular disorder of childhood. Response to initial treatment with corticosteroids is an indicator of prognosis, as resistant patients often present more progressive disease. In this cross-sectional pilot study, we set out to discover a panel of noninvasive biomarkers that could distinguish steroid-resistant nephrotic syndrome (SRNS) from steroid-sensitive nephrotic syndrome (SSNS). Information gleaned from such a panel could yield more individualized treatment plans and prevent unnecessary steroid exposure in patients unlikely to respond...
2017: Biomarker Insights
https://www.readbyqxmd.com/read/28465799/immunoglobulin-g-and-m-levels-in-childhood-nephrotic-syndrome-two-centers-egyptian-study
#9
Ghada Mohamed El Mashad, Soha Abd El Hady Ibrahim, Sameh Abd Allah Abdelnaby
INTRODUCTION: Idiopathic nephrotic syndrome (INS) is the most common glomerular disease in children. Immune cell subsets may play a role in pathogenesis of INS. We aimed to assess immunoglobulin G (IgG) and immunoglobulin M (IgM) levels in children with nephrotic syndrome (NS) to predict prognosis of the disease and response to treatment. METHODS: This prospective case control study was done in Pediatric Nephrology Units at Minoufia and Benha University Hospitals, during the period from 1st March 2014 to 30th June 2015...
February 2017: Electronic Physician
https://www.readbyqxmd.com/read/28405841/focal-segmental-glomerulosclerosis-and-medullary-nephrocalcinosis-in-children-with-adck4-mutations
#10
Eujin Park, Hee Gyung Kang, Young Hun Choi, Kyoung Bun Lee, Kyung Chul Moon, Hyeon Joo Jeong, Michio Nagata, Hae Il Cheong
BACKGROUND: Mutations in the AarF domain containing kinase 4 gene (ADCK4), one of the novel genes causing steroid-resistant nephrotic syndrome (SRNS), usually manifest as isolated adolescent-onset focal segmental glomerulosclerosis (FSGS). ADCK4 interacts with components of the coenzyme Q10 (CoQ10) biosynthesis pathway. METHODS: The incidence and phenotypes of patients with ADCK4 mutations were investigated in a cohort of Korean pediatric patients with SRNS. RESULTS: Among the 53 patients enrolled in the study the incidence of ADCK4-associated FSGS was 7...
April 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28392820/genetics-of-hereditary-nephrotic-syndrome-a-clinical-review
#11
REVIEW
Tae-Sun Ha
Advances in podocytology and genetic techniques have expanded our understanding of the pathogenesis of hereditary steroid-resistant nephrotic syndrome (SRNS). In the past 20 years, over 45 genetic mutations have been identified in patients with hereditary SRNS. Genetic mutations on structural and functional molecules in podocytes can lead to serious injury in the podocytes themselves and in adjacent structures, causing sclerotic lesions such as focal segmental glomerulosclerosis or diffuse mesangial sclerosis...
March 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28385484/genetic-mutation-in-egyptian-children-with-steroid-resistant-nephrotic-syndrome
#12
Manal Micheal Thomas, Mohamed S Abdel-Hamid, Nermine Nabil Mahfouz, Emad Emil Ghobrial
BACKGROUND/PURPOSE: Nephrotic syndrome is the commonest etiology of proteinuria in children. Steroid-resistant nephrotic syndrome (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most intractable etiologies of renal failure. Molecular studies discovered specialized molecules in podocytes that play a role in proteinuria. Mutations in NPHS2 that encodes for podocin constitute a frequent cause of SRNS worldwide. This study aimed to screen for podocin mutations in SRNS Egyptian children and their parents...
April 3, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28337616/follow-up-results-of-patients-with-adck4-mutations-and-the-efficacy-of-coq10-treatment
#13
Mustafa Atmaca, Bora Gulhan, Emine Korkmaz, Mihriban Inozu, Oguz Soylemezoglu, Cengiz Candan, Aysun Karabay Bayazıt, Ahmet Midhat Elmacı, Gonul Parmaksiz, Ali Duzova, Nesrin Besbas, Rezan Topaloglu, Fatih Ozaltin
BACKGROUND: ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. METHODS: A total of 146 index patients aged 10-18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation...
March 24, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28335748/steroid-resistant-nephrotic-syndrome-as-the-initial-presentation-of-nail-patella-syndrome-a-case-of-a-de-novo-lmx1b-mutation
#14
Tomohiro Nakata, Ryo Ishida, Yuu Mihara, Atsuko Fujii, Yoshimoto Inoue, Tetsuro Kusaba, Tsuyoshi Isojima, Yutaka Harita, Chiaki Kanda, Sachiko Kitanaka, Keiichi Tamagaki
BACKGROUND: Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by mutations in the LMX1B gene and is characterized by nail dysplasia, skeletal abnormalities, and nephropathy. We herein report a case of steroid-resistant nephrotic syndrome (SRNS) prior to overt orthopedic symptoms in a patient with NPS. CASE PRESENTATION: A 24-year-old woman presented to our hospital with knee pain. She had poorly developed nails, hypoplastic patellas, dislocation of the elbows, and iliac horns in the pelvis...
March 23, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28314579/keeping-the-customers-stratified-moving-toward-genetics-based-treatment-options-in-childhood-ns
#15
Megan Puckelwartz, H William Schnaper
In this issue, Bierzynska et al. report the results of analyzing a cohort of children with steroid-resistant nephrotic syndrome (SRNS) of childhood, correlating genetic studies with clinical outcomes. This approach has the potential to advance both our research into the causes and treatments of childhood SRNS and our ability to stratify patients into groups that are likely to be responsive to specific treatments. Here, we discuss some of the strengths and limitations of this report.
April 2017: Kidney International
https://www.readbyqxmd.com/read/28299339/cytoplasmic-localization-of-wt1-and-decrease-of-mirna-16-1-in-nephrotic-syndrome
#16
Pablo Zapata-Benavides, Mariela Arellano-Rodríguez, Juan José Bollain-Y-Goytia, Moisés Armides Franco-Molina, Gloria Azucena Rangel-Ochoa, Esperanza Avalos-Díaz, Rafael Herrera-Esparza, Cristina Rodríguez-Padilla
Nephrotic syndrome (NS) is a glomerular disease that is defined by the leakage of protein into the urine and is associated with hypoalbuminemia, hyperlipidemia, and edema. Steroid-resistant NS (SRNS) patients do not respond to treatment with corticosteroids and show decreased Wilms tumor 1 (WT1) expression in podocytes. Downregulation of WT1 has been shown to be affected by certain microRNAs (miRNAs). Twenty-one patients with idiopathic NS (68.75% were SSNS and 31.25% SRNS) and 10 healthy controls were enrolled in the study...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28257282/wt1-mutation-associated-nephropathy-a%C3%A2-single-center-experience%C3%A2
#17
Zhihui Yue, Haiyan Wang, Hongrong Lin, Juan Yang, Ting Liu, Yulin Liu, Huamu Chen, Liangzhong Sun
This study explored Wilms' tumor 1 (<i>WT1</i>) mutations in children with, or suspected of having, steroid-resistant nephrotic syndrome (SRNS), referred to or treated in our hospital in the past 6 years as well as the correlation between genotype and phenotype in <i>WT1</i> mutation-associated nephropathy in Chinese patients. In total, 76 patients participated in the study. <i>WT1</i> mutations were identified in 15 patients, 5 of whom harbored splice-site mutations in intron 9...
May 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28218265/genetics-sgpl1-mutations-cause-a-novel-srns-syndrome
#18
Ellen F Carney
No abstract text is available yet for this article.
February 20, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28210837/toll-like-receptor-3-tlr-3-tlr-4-and-cd80-expression-in-peripheral-blood-mononuclear-cells-and-urinary-cd80-levels-in-children-with-idiopathic-nephrotic-syndrome
#19
Om P Mishra, Ravindra Kumar, Gopeshwar Narayan, Pradeep Srivastava, Abhishek Abhinay, Rajniti Prasad, Ankur Singh, Vineeta V Batra
BACKGROUND: The aims of this study were (1) to detect toll-like receptor (TLR)-3, TLR-4 and CD80 expression in peripheral blood mononuclear cells (PBMCs) and estimate urinary CD80 levels in children with idiopathic nephrotic syndrome and (2) to investigate the utility of these markers to differentiate between biopsy-proven minimal change disease (MCD) and focal segmental glomeruloscelerosis (FSGS). METHODS: The study included 70 patients with idiopathic nephrotic syndrome (NS), of whom 40 had steroid-sensitive NS (SSNS; 25 with active NS, 15 in remission) and 30 had steroid-resistant NS (SRNS) patients, and 23 healthy controls...
February 16, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28204945/spectrum-of-mutations-in-chinese-children-with-steroid-resistant-nephrotic-syndrome
#20
Fang Wang, Yanqin Zhang, Jianhua Mao, Zihua Yu, Zhuwen Yi, Li Yu, Jun Sun, Xiuxiu Wei, Fangrui Ding, Hongwen Zhang, Huijie Xiao, Yong Yao, Weizhen Tan, Svjetlana Lovric, Jie Ding, Friedhelm Hildebrandt
BACKGROUND: The aim of this study was to elucidate whether genetic screening test results of pediatric patients with steroid-resistant nephrotic syndrome (SRNS) vary with ethnicity. METHODS: Using high-throughput DNA sequencing, 28 nephrotic syndrome-related genes were analyzed in 110 chil-dren affected by SRNS and 10 children with isolated proteinuria enrolled by 5 centers in China (67 boys, 53 girls). Their age at disease onset ranged from 1 day to 208 months (median, 48...
July 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
keyword
keyword
109105
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"