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https://www.readbyqxmd.com/read/28780565/clinical-genetic-testing-using-a-custom-designed-steroid-resistant-nephrotic-syndrome-gene-panel-analysis-and-recommendations
#1
Ethan S Sen, Philip Dean, Laura Yarram-Smith, Agnieszka Bierzynska, Geoff Woodward, Chris Buxton, Gemma Dennis, Gavin I Welsh, Maggie Williams, Moin A Saleem
BACKGROUND: There are many single-gene causes of steroid-resistant nephrotic syndrome (SRNS) and the list continues to grow rapidly. Prompt comprehensive diagnostic testing is key to realising the clinical benefits of a genetic diagnosis. This report describes a bespoke-designed, targeted next-generation sequencing (NGS) diagnostic gene panel assay to detect variants in 37 genes including the ability to identify copy number variants (CNVs). METHODS: This study reports results of 302 patients referred for SRNS diagnostic gene panel analysis...
August 5, 2017: Journal of Medical Genetics
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/28547746/the-support-needs-of-parents-having-a-child-with-a-chronic-kidney-disease-a-focus-group-study
#4
W W Geense, B G I van Gaal, J L Knoll, E A M Cornelissen, T van Achterberg
BACKGROUND: Parents of children with a chronic kidney disease (CKD) have a crucial role in the management of their child's disease. The burden on parents is high: they are often exhausted, depressed and experience high levels of stress and a low quality of life, which could have a negative impact on their child's health outcomes. Support aiming at preventing and reducing parental stress is essential. Therefore, it is necessary to have insight in the problems and support needs among these parents...
May 25, 2017: Child: Care, Health and Development
https://www.readbyqxmd.com/read/28541783/cyclosporine-causes-no-hearing-defect-in-paediatric-patients-with-nephrotic-syndrome
#5
Belde Kasap-Demir, Derya Özmen, Günay Kırkım, Ersoy Doğan, Alper Soylu, Bülent Şerbetçioğlu, Salih Kavukçu
OBJECTIVE: We aimed to evaluate the ototoxicity of cyclosporine A (CsA) in children with nephrotic syndrome (NS). DESIGN: Data of paediatric patients with NS followed in paediatric nephrology department were evaluated retrospectively, and hearing functions were evaluated by pure tone audiometry (PTA) and transient evoked otoacoustic emissions (TEOAEs). Age, gender, type of NS, duration and cumulative doses of immunosuppressives were noted. STUDY SAMPLE: The patients who had received CsA (n: 16) and immunosuppressives other than CsA (n: 13) for at least 6 months formed two patient groups and healthy cases formed a control group (n: 20)...
May 25, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28515029/tolvaptan-utilization-in-children-with-chronic-hyponatremia-due-to-inappropriate-antidiuretic-hormone-secretion-siadh-three-case-reports-and-review-of-the-literature
#6
Gerdi Tuli, Daniele Tessaris, Luisa De Sanctis, Patrizia Matarazzo
Hyponatremia is the most common electrolyte disorder among hospitalized patients and it is sometimes considered as a poor outcome predictor. Its correction is thus indicated, even in asymptomatic patients. The conventional treatment is represented by fluid restriction in presence of euvolemia or hypervolemia; whereas loop diuretics are used in some hypervolemic conditions (cardiac heart failure, liver cirrhosis and nephrotic syndrome) and intravenous isotonic or hypertonic solution are administered in hypovolemic conditions...
May 17, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28463080/lupus-glomerulonephritis-in-788-chinese-children-a-multi-centre-clinical-and-histopathological-analysis-based-on-549-renal-biopsies
#7
Si-Yan Jin, Dan-Lin Huang, Xi-Qiang Dang, Zhu-Wen Yi
BACKGROUND: System lupus erythematosus (SLE) is a severe multisystem autoimmune disease. OBJECTIVE: To describe the clinical and pathological features, treatment, and renal outcome in children under 18 years with lupus nephritis (LN). METHODS: The study was undertaken by a questionnaire completed in 26 Grade 3A hospitals' paediatric renal units in China. The study comprised 788 children (619 girls, 169 boys) diagnosed with SLE by the American College of Rheumatology criteria (1997) during 2005-2010...
May 2, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28339709/clinicopathologic-correlations-of-renal-pathology-in-the-adult-population-of-poland
#8
Agnieszka Perkowska-Ptasinska, Artur Bartczak, Malgorzata Wagrowska-Danilewicz, Agnieszka Halon, Krzysztof Okon, Aldona Wozniak, Marian Danilewicz, Henryk Karkoszka, Andrzej Marszalek, Jolanta Kowalewska, Andrzej Mroz, Agnieszka Korolczuk, Andrzej Oko, Alicja Debska-Slizien, Beata Naumnik, Zbigniew Hruby, Marian Klinger, Kazimierz Ciechanowski, Marek Myslak, Wladyslaw Sulowicz, Andrzej Rydzewski, Andrzej Wiecek, Jacek Manitius, Tadeusz Gregorczyk, Stanislaw Niemczyk, Michal Nowicki, Ryszard Gellert, Tomasz Stompor, Monika Wieliczko, Krzysztof Marczewski, Leszek Paczek, Olga Rostkowska, Dominika Deborska-Materkowska, Grazyna Bogdanowicz, Andrzej Milkowski, Magdalena Durlik
Background: This is the first report on the epidemiology of biopsy-proven kidney diseases in Poland. Methods: The Polish Registry of Renal Biopsies has collected information on all (n = 9394) native renal biopsies performed in Poland from 2009 to 2014. Patients' clinical data collected at the time of biopsy, and histopathological diagnoses were used for epidemiological and clinicopathologic analysis. Results: There was a gradual increase in the number of native renal biopsies performed per million people (PMP) per year in Poland in 2009-14, starting from 36 PMP in 2009 to 44 PMP in 2014...
April 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28112049/kidney-disease-in-hepatitis-b-surface-antigen-positive-children-experience-from-a-centre-in-south-west-nigeria-and-a-review-of-the-nigerian-literature
#9
Adanze O Asinobi, Adebowale D Ademola, Clement A Okolo, Adedayo A Adepoju, Susan M Samuel, Wendy E Hoy
BACKGROUND: Kidney disease is an important extra-hepatic manifestation of hepatitis B virus (HBV) infection. However, there is paucity of recent literature on kidney disease in children and adolescents with HBV infection from several parts of sub-Saharan Africa including Nigeria. OBJECTIVE: To review the pattern of kidney disease in hepatitis B surface antigen (HBsAg)-positive children and adolescents seen at a tertiary hospital in south-west Nigeria. METHODS: A retrospective study was undertaken of HBsAg-seropositive children with kidney disease managed at University College Hospital, Ibadan, from January 2004 to December 2015...
January 23, 2017: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/28058746/multidimensional-impact-on-families-of-children-with-steroid-sensitive-nephrotic-syndrome
#10
Gurdeep S Dhooria, Harmeet P Singh, Deepak Bhat, Harmesh S Bains, Ravinder K Soni, Mohit Kumar
AIM: Children with nephrotic syndrome (NS) have prolonged disease course with relapses requiring frequent visits and prolonged steroid therapy with their long-term concerns. All these factors affect the child and their families in many domains of functioning. The objective of this study was to assess multidimensional impact on families of children with nephrotic syndrome using (PedsQL) Family Impact Module (FIM). METHODS: This cross-sectional study was conducted in a paediatric nephrology clinic of a tertiary care hospital...
April 2017: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/27795625/a-prospective-audit-of-complications-in-100-consecutive-pediatric-percutaneous-renal-biopsies-done-under-real-time-ultrasound-guidance
#11
R Sinha, B Maji, B Sarkar, S Meur
Despite being a common procedure, percutaneous renal biopsy (PRB) carries the potential for complications. The British Association of Paediatric Nephrologist (BAPN) has published standards for pediatric PRB. As Indian data are scarce, we conducted a prospective audit of 100 consecutive pediatric renal biopsies (60% males) under real-time ultrasound guidance. Nephrotic syndrome was the most common indication for PRB (68%) with minimal change disease (30%) and focal segmental glomerulosclerosis (25%) being the most common histopathological lesions...
September 2016: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/27623226/-increased-lipoprotein-a-in-a-paediatric-patient-associated-with-nephrotic-syndrome
#12
Paloma Menéndez Valladares, Teresa Arrobas Velilla, José Antonio Bermúdez de la Vega, María Del Mar Romero Pérez, Fernando Fabiani Romero, Concepción González Rodríguez
A common complication in paediatric patients with nephrotic syndrome (NS) is hyperlipidaemia. About 20% of children do not respond to treatment with corticosteroids, presenting with a cortico-resistant NS (CRNS), which can progress to kidney failure. It has been observed that paediatric patients with CRNS have an elevated low density lipoprotein cholesterol (LDL-c), very low density lipoprotein cholesterol (VLDL-c), and triglycerides levels, as well as elevated Lipoprotein-a [Lp (a)] levels. The case is presented of a 5 year old boy, diagnosed with CRNS, presenting with dyslipidaemia with increased LDL-c, Apo-B100, and Lp(a) levels...
September 2016: Clínica e Investigación en Arteriosclerosis
https://www.readbyqxmd.com/read/27566421/progress-in-pediatrics-in-2015-choices-in-allergy-endocrinology-gastroenterology-genetics-haematology-infectious-diseases-neonatology-nephrology-neurology-nutrition-oncology-and-pulmonology
#13
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/27540239/long-course-oral-corticosteroid-toxicity-in-children
#14
Fahad Aljebab, Imti Choonara, Sharon Conroy
BACKGROUND: Long courses of oral corticosteroids are commonly used in children in the management of conditions such as nephrotic syndrome, leukaemia, asthma and others. Various adverse drug reactions (ADRs) are known to occur with their use. This systematic review aimed to identify the most common and serious ADRs and to determine their relative risk levels. METHODS: A literature search of several databases; Embase, Medline, International Pharmaceutical Abstracts, CINAHL, the Cochrane Library and PubMed was performed to identify all studies where corticosteroids had been administered to paediatric patients ranging from 28 days to 18 years of age for at least 15 days of treatment...
September 2016: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/27504551/comparison-of-efficacy-of-tacrolimus-versus-cyclosporine-in-childhood-steroid-resistant-nephrotic-syndrome
#15
COMPARATIVE STUDY
Syed Sajid Hussain Shah, Farkhanda Hafeez
OBJECTIVE: To compare the efficacy of tacrolimus versus cyclosporine (Calcineurin Inhibitors) in the management of childhood steroid-resistant nephritic syndrome (SRNS). STUDY DESIGN: Quasi-experimental study. PLACE AND DURATION OF STUDY: Department of Paediatric Nephrology at The Children's Hospital and Institute of Child Health, Lahore, from August 2014 to September 2015. METHODOLOGY: Patients of either gender aged 1 - 12 years, with the diagnosis of mesangioproliferative glomerulonephritis (MesangioPGN), focal segmental glomerulosclerosis (FSGS) or minimal-change disease (MCD) were included...
July 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/27504374/spectrum-of-renal-and-urinary-tract-diseases-in-kashmiri-children
#16
Mohd Ashraf, Virender Kumar, Rifat Ara Bano, Khursheed Ahmed Wani, Javed Ahmed, Kaisar Ahmed
INTRODUCTION: Definite paucity of data pertaining to spectrum of renal and urinary tract diseases in our state and in various parts of India forms the basis of this study. Available data has emphasized more on specific clinical syndromes and chronic renal diseases rather than over all spectrums of renal and urinary tract diseases, that too in adult population. AIM: The present study a retrospective analysis, forms one of the basic data of paediatric nephrology and urology related disorders in our state...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27134858/paraoxonase-activity-and-lipid-profile-in-paediatric-nephrotic-syndrome-a-cross-sectional-study
#17
Vijayetha P Patil, Anuradha B Patil, Vidya S Patil, Deepti G Ingleshwar
INTRODUCTION: Dyslipidaemia of Nephrotic Syndrome (NS) is known to be linked to oxidative reactions and atherosclerosis. Paraoxonase (PON1) has been implicated in the prevention of Low Density Lipoprotein (LDL) lipid peroxidation and also degrades biologically active oxidised lipids in lipoprotein. AIM: The present study was taken up to assess PON1 levels in paediatric nephrotic syndrome and also to see if any correlation exists between lipid parameters and PON1...
March 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27121656/body-composition-estimation-using-skinfolds-in-children-with-and-without-health-conditions-affecting-growth-and-body-composition
#18
Danielle Wendel, David Weber, Mary B Leonard, Sheela N Magge, Andrea Kelly, Virginia A Stallings, Mary Pipan, Nicolas Stettler, Babette S Zemel
BACKGROUND: Body composition prediction equations using skinfolds are useful alternatives to advanced techniques, but their utility across diverse paediatric populations is unknown. AIM: To evaluate published and new prediction equations across diverse samples of children with health conditions affecting growth and body composition. SUBJECTS AND METHODS: Anthropometric and dual-energy X-ray absorptiometry (DXA) body composition measures were obtained in children with Down syndrome (n = 59), Crohn disease (n = 128), steroid-sensitive nephrotic syndrome (n = 67) and a healthy reference group (n = 835)...
March 2017: Annals of Human Biology
https://www.readbyqxmd.com/read/27004322/tacrolimus-drug-level-and-response-to-treatment-in-idiopathic-childhood-steroid-resistant-nephrotic-syndrome
#19
Syed Sajid Hussain Shah, Farkhanda Hafeez, Naureen Akhtar
BACKGROUND: The management of Steroid Resistant Nephrotic Syndrome (SRNS) is an uphill task for paediatric nephrologists as immunosuppressive agents are the mainstay of treatment in these patients. Tacrolimus is used along with steroids. This study is conducted to see the relationship between the tacrolimus dose, drug level and response in the management of SRNS. METHODS: This quasi experimental study was conducted at The Children's Hospital Lahore over a period of one year...
October 2015: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/26862624/audit-of-blood-transfusion-practices-in-the-paediatric-medical-ward-of-a-tertiary-hospital-in-southeast-nigeria
#20
M D Ughasoro, A N Ikefuna, I J Emodi, S N Ibeziako, S O Nwose
OBJECTIVES: To determine the indications, practices and outcomes of transfusion on children. DESIGN: A descriptive retrospective study. SETTING: Paediatric wards of University of Nigeria Teaching Hospital, Enugu, Nigeria. SUBJECTS: Children one month to 18 years that received blood transfusion. MAIN OUTCOME MEASURES: Indications for the transfusion, haemoglobin rise, vital signs, duration of transfusion and adverse events...
January 2013: East African Medical Journal
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