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Pediatric renal function

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https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#1
Asaf Ta-Shma, Tahir N Khan, Asaf Vivante, Jason R Willer, Pavle Matak, Chaim Jalas, Ben Pode-Shakked, Yishay Salem, Yair Anikster, Friedhelm Hildebrandt, Nicholas Katsanis, Orly Elpeleg, Erica E Davis
Despite the accelerated discovery of genes associated with syndromic traits, the majority of families affected by such conditions remain undiagnosed. Here, we employed whole-exome sequencing in two unrelated consanguineous kindreds with central nervous system (CNS), cardiac, renal, and digit abnormalities. We identified homozygous truncating mutations in TMEM260, a locus predicted to encode numerous splice isoforms. Systematic expression analyses across tissues and developmental stages validated two such isoforms, which differ in the utilization of an internal exon...
March 11, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28296163/long-term-safety-and-efficacy-of-deferasirox-in-young-pediatric-patients-with-transfusional-hemosiderosis-results-from-a-5-year-observational-study-entrust
#2
Elliott Vichinsky, Amal El-Beshlawy, Azzam Al Zoebie, Annie Kamdem, Suzanne Koussa, Thirachit Chotsampancharoen, Andreas Bruederle, Geralyn Gilotti, Jackie Han, Mohsen Elalfy
BACKGROUND: Children with red blood cell disorders may receive regular transfusions from an early age and consequently accumulate iron. Adequate iron chelation therapy can prevent organ damage and delayed growth/development. Deferasirox is indicated for treatment of pediatric patients with chronic iron overload due to transfusional hemosiderosis; however, fewer than 10% of patients in the registration studies were aged 2 to less than 6 years. PROCEDURE: Deferasirox, a once-daily oral iron chelator, was evaluated in young pediatric patients with transfusional hemosiderosis during the observational 5-year ENTRUST study...
March 10, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28290633/proteinuria-in-children-evaluation-and-differential-diagnosis
#3
Alexander K C Leung, Alex H C Wong, Stefani S N Barg
Although proteinuria is usually benign in the form of transient or orthostatic proteinuria, persistent proteinuria may be associated with more serious renal diseases. Proteinuria may be an independent risk factor for the progression of chronic kidney disease in children. Mechanisms of proteinuria can be categorized as glomerular, tubular, secretory, or overflow. A history, a physical examination, and laboratory tests help determine the cause. Transient (functional) proteinuria is temporary. It can occur with fever, exercise, stress, or cold exposure, and it resolves when the inciting factor is removed...
February 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/28283728/survey-of-gadolinium-based-contrast-agent-utilization-among-the-members-of-the-society-for-pediatric-radiology-a-quality-and-safety-committee-report
#4
Einat Blumfield, Michael M Moore, Mary K Drake, Thomas R Goodman, Kristopher N Lewis, Laura T Meyer, Thang D Ngo, Christina Sammet, Arta Luana Stanescu, David W Swenson, Thomas L Slovis, Ramesh S Iyer
BACKGROUND: Gadolinium-based contrast agents (GBCAs) have been used for magnetic resonance (MR) imaging over the last three decades. Recent reports demonstrated gadolinium retention in patients' brains following intravenous administration. Since gadolinium is a highly toxic heavy metal, there is a potential for adverse effects from prolonged retention or deposition, particularly in children. For this reason, the Society (SPR) for Pediatric Radiology Quality and Safety committee conducted a survey to evaluate the current status of GBCAs usage among pediatric radiologists...
March 10, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28265323/bladder-and-bowel-dysfunction-in-children-an-update-on-the-diagnosis-and-treatment-of-a-common-but-underdiagnosed-pediatric-problem
#5
REVIEW
Joana Dos Santos, Roberto I Lopes, Martin A Koyle
Bladder and bowel dysfunction (BBD) describes a spectrum of lower urinary symptoms (LUTS) accompanied by fecal elimination issues that manifest primarily by constipation and/or encopresis. This increasingly common entity is a potential cause of significant physical and psychosocial burden for children and families. BBD is commonly associated with vesicoureteral reflux (VUR) and recurrent urinary tract infections (UTIs), which at its extreme may lead to renal scarring and kidney failure. Additionally, BBD is frequently seen in children diagnosed with behavioural and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD)...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28260445/renal-impairment-and-complication-after-kidney-transplant-at-queen-rania-abdulla-children-s-hospital
#6
Reham Issa Almardini, Ghazi Mohamad Salita, Mahdi Qasem Farah, Issa Ahmad Katatbeh, Katibh Al-Rabadi
OBJECTIVES: Kidney transplant is the treatment of choice for end-stage renal disease, but it is not without complications. We review the medical cause of significant renal impairment and complications that developed after kidney transplant in pediatric patients who required hospital admission and intervention and/or who were followed between 2007 and 2016. MATERIALS AND METHODS: A retrospective noninterventional chart review study was conducted in pediatric patients who received a kidney transplant and/or followed at the nephrology clinic at Queen Rania Abdulla Children's Hospital between 2007 and 2016...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28259596/berlin-heart-excor-use-in-patients-with-congenital-heart-disease
#7
David L S Morales, Farhan Zafar, Christopher S Almond, Charles Canter, Francis Fynn-Thompson, Jennifer Conway, Iki Adachi, Angela Lorts
BACKGROUND: Management of mechanical circulatory support in children with congenital heart disease (CHD) is challenging due to physiologic variations and anatomic limitations to device placement. In this study we examine the use of Berlin Heart EXCOR in CHD patients. METHODS: CHD patients were identified from the EXCOR Pediatric Study data set (2007 to 2010). Mortality and serious adverse events were compared between CHD and non-CHD cohorts, and predictors of poor outcomes in the CHD cohort were identified...
February 8, 2017: Journal of Heart and Lung Transplantation
https://www.readbyqxmd.com/read/28253513/microarray-analysis-reveals-increased-expression-of-matrix-metalloproteases-and-cytokines-of-interleukin-20-subfamily-in-the-kidneys-of-neonate-rats-underwent-unilateral-ureteral-obstruction-a-potential-role-of-il-24-in-the-regulation-of-inflammation-and-tissue
#8
Domonkos Pap, Erna Sziksz, Zoltán Kiss, Réka Rokonay, Apor Veres-Székely, Rita Lippai, István Márton Takács, Éva Kis, Andrea Fekete, György Reusz, Adam Vannay, Attila J Szabó
BACKGROUND/AIMS: Congenital obstructive nephropathy (CON) is the main cause of pediatric chronic kidney diseases leading to renal fibrosis. High morbidity and limited treatment opportunities of CON urge the better understanding of the underlying molecular mechanisms. METHODS: To identify the differentially expressed genes, microarray analysis was performed on the kidney samples of neonatal rats underwent unilateral ureteral obstruction (UUO). Microarray results were then validated by real-time RT-PCR and bioinformatics analysis was carried out to identify the relevant genes, functional groups and pathways involved in the pathomechanism of CON...
February 28, 2017: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/28224100/early-infant-male-circumcision-systematic-review-risk-benefit-analysis-and-progress-in-policy
#9
Brian J Morris, Sean E Kennedy, Alex D Wodak, Adrian Mindel, David Golovsky, Leslie Schrieber, Eugenie R Lumbers, David J Handelsman, John B Ziegler
AIM: To determine whether recent evidence-based United States policies on male circumcision (MC) apply to comparable Anglophone countries, Australia and New Zealand. METHODS: Articles in 2005 through 2015 were retrieved from PubMed using the keyword "circumcision" together with 36 relevant subtopics. A further PubMed search was performed for articles published in 2016. Searches of the EMBASE and Cochrane databases did not yield additional citable articles. Articles were assessed for quality and those rated 2+ and above according to the Scottish Intercollegiate Grading System were studied further...
February 8, 2017: World Journal of Clinical Pediatrics
https://www.readbyqxmd.com/read/28222205/complex-cystine-kidney-stones-treated-with-combined-robot-assisted-laparoscopic-pyelolithotomy-and-intraoperative-renoscopy
#10
Luca Meggiato, Francesco Cattaneo, Fabio Zattoni, Fabrizio Dal Moro, Paolo Beltrami, Filiberto Zattoni
INTRODUCTION: Cystinuria, a rare autosomal recessive disease characterized by a defect in cystine renal reabsorption, can often determine complex cystine renal calculi, leading to important complications such as urinary obstruction, urinary infections, and impaired kidney function. Complex kidney stones can have a difficult management and can be very arduous to treat. CASE DESCRIPTION: We present the case of a 20-year-old Jeowah's witness woman with complex cystine renal stones treated with combined robot-assisted laparoscopic pyelolithotomy and intraoperative renoscopy...
February 18, 2017: Urologia
https://www.readbyqxmd.com/read/28221155/super-mini-pcnl-smp-material-indications-technique-advantages-and-results
#11
Zhijian Zhao, Aierken Tuerxu, Yongda Liu, Wenqi Wu, Abulizi Simayi, Wen Zhong, Wenzhong Chen, Abudukahaer Batuer, Guohua Zeng
OBJECTIVE: To introduce an emerging technique termed 'super-mini- percutaneous nephrolithotomy' (SMP) and describe its application in practice. METHODS: We described the technique of SMP in the treatment of renal stones with emphasis on the material, indications, technique procedure, advantages, and results. RESULTS: SMP refers to a 7 Ch. nephroscope placed through a 10-14 Ch. metal access sheath with functions of both irrigation and suction-evacuation, to achieve stone fragmentation via laser or pneumatic lithotripsy...
January 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28217064/a-simple-technique-to-achieve-vascular-access-for-continuous-venous-venous-ultrafiltration-in-a-toddler
#12
Joseph Drew Tobias
Acute renal failure is associated with increased mortality in the Pediatric Intensive Care Unit. When anuric or oliguric renal failure occurs, the associated fluid overload may compromise respiratory function and has been shown to be associated with worse outcomes. Renal replacement therapy using continuous venous-venous hemofiltration (CVVH) allows for fluid, solute, and nitrogenous waste removal. However, large bore vascular access with placement of a double-lumen dialysis catheter is necessary to ensure effective flow rates to allow for CVVH...
January 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28164508/urinary-neutrophil-gelatinase-associated-lipocalin-does-not-distinguish-acute-rejection-from-other-causes-of-acute-kidney-injury-in-pediatric-renal-transplant-recipients
#13
Tomas Seeman, Karel Vondrak, Jiri Dusek, Nadezda Simankova, Jakub Zieg, Jaromir Hacek, Maria Chadimova, Bruno Sopko, Magdalena Fortova
BACKGROUND: The aim of this prospective single center study was to investigate the ability of urinary neutrophil gelatinase-associated lipocalin (NGAL) to distinguish acute rejection from other causes of acute kidney injury (AKI) in children after renal transplantation. METHODS: Fifteen children fulfilled the inclusion criteria (acute kidney injury (AKI) with allograft biopsy, at least 21 days after renal transplantation, no sepsis) during 2013 - 2014 in our pediatric transplantation center...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28160250/thiopurines-and-methotrexate-use-in-ibd-patients-in-a-biologic-era
#14
REVIEW
Gerassimos J Mantzaris
Although we have been living in the era of biologic therapy for several decades, the use of immunomodulators (primarily thiopurines [azathioprine and mercaptopurine] and less so methotrexate) still remains an important component of the inflammatory bowel disease (IBD) pharmaceutical arsenal. Thiopurines as monotherapy exert corticosteroid-sparing effects and can maintain long-term remission in a considerable proportion of patients who have frequent relapses and are or have become mesalazine and/or corticosteroid intolerant or refractory...
March 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28130969/the-oxford-classification-predictors-of-chronic-kidney-disease-in-pediatric-patients-with-iga-nephropathy
#15
Rafaela C G Fabiano, Stanley A Araújo, Eduardo A Bambirra, Eduardo A Oliveira, Ana Cristina Simões E Silva, Sérgio V B Pinheiro
OBJECTIVE: The Oxford Classification for Immunoglobulin A nephropathy (IgAN) identifies pathological variables that may predict the decline of renal function. This study aimed to evaluate the Oxford Classification variables as predictors of renal dysfunction in a cohort of Brazilian children and adolescents with IgAN. METHODS: A total of 54 patients with IgAN biopsied from 1982 to 2010 were assessed. Biopsies were re-evaluated and classified according to the Oxford Classification...
January 27, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28126394/laparoscopic-selective-clipping-of-upper-moiety-vasculature-and-ureter-without-partial-nephrectomy-a-novel-technique-for-pediatric-urinary-incontinence-due-to-ectopic-ureter-associated-with-poor-functioning-upper-renal-moiety
#16
S H Hosseini Sharifi, B Nabavizadeh, S Mozafarpour, A-M Kajbafzadeh
OBJECTIVE: The aim of this study was to present a novel laparoscopic technique for persistent urinary incontinence in pediatrics due to ectopic ureter associated with poor functioning upper renal moiety. METHODS: This technique consisted of laparoscopic clipping of the upper moiety artery and vein. The ectopic ureter was also clipped afterwards without upper pole partial nephrectomy. RESULTS: The patient was a seven-year-old girl with persistent urinary incontinence and confirmation of duplex kidney with poor functioning upper moiety in pre-operative investigations...
January 13, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28124483/mutations-in-ttc21b-cause-different-phenotypes-in-two-childhood-cases-in-china
#17
Hongwen Zhang, Baige Su, Xiaoyu Liu, Huijie Xiao, Jie Ding, Yong Yao
AIM: The TTC21B gene is now known as causative of nephronophthisis-related ciliopathies (NPHP-RC). We reported two Chinese pediatric cases with end-stage renal disease and other phenotypes caused by the TTC21B gene mutations. METHODS: The clinical features of Chinese pediatric cases with NPHP-RC were summarized. Mutation analysis of the TTC21B gene was performed using next-generation sequencing. RESULTS: The two cases both had nephrotic proteinuria, renal failure, hypertension and abnormal liver function (or hepatic fibrosis)...
January 26, 2017: Nephrology
https://www.readbyqxmd.com/read/28121970/resorbable-mesh-cranioplasty-repair-of-bilateral-cerebrospinal-fluid-leaks-following-pediatric-simultaneous-bilateral-auditory-brainstem-implant-surgery
#18
Giacomo Colletti, Marco Mandalà, Vittorio Colletti, Alberto Deganello, Fabiana Allevi, Liliana Colletti
OBJECTIVE: To present a child with cochlear nerve deficiency (CND) who received simultaneous bilateral simultaneous auditory brainstem implants (BS-ABI) and subsequently presented with bilateral cerebrospinal fluid (CSF) leaks unresponsive to standard treatments. To propose a novel rigid retrosigmoid cranioplasty for treating and preventing CSF leaks in children at high risk for this complication. PATIENT: A 3.5-year-old child with CND, vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality, Arnold Chiari malformation, previous treated tracheo-esophageal fistula underwent BS-ABI...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28087255/unknown-face-of-known-drugs-what-else-can-we-expect-from-angiotensin-converting-enzyme-inhibitors
#19
REVIEW
Anna Wzgarda, Robert Kleszcz, Monika Prokop, Katarzyna Regulska, Milosz Regulski, Jaroslaw Paluszczak, Beata J Stanisz
The renin-angiotensin system (RAS) is one of important systems among homeostatic mechanisms that control the function of cardiovascular, renal and adrenal systems. As RAS has a very complex nature, it has been also found as related to the control of cell migration and apoptosis. Angiotensin-converting enzyme inhibitors (ACEI) are drugs most commonly used in the modulation of RAS activity. ACEI have been extensively described as effective in the treatment of hypertension among adults, but also as drugs delaying progression in diabetic nephropathy and reducing mortality in left ventricular dysfunction and congestive heart failure...
February 15, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/27997529/renal-dysfunction-in-early-adulthood-following-birth-asphyxia-in-male-spiny-mice-and-its-amelioration-by-maternal-creatine-supplementation-during-pregnancy
#20
Stacey J Ellery, Domenic A LaRosa, Luise A Cullen-McEwen, Russell D Brown, Rod J Snow, David W Walker, Michelle M Kett, Hayley Dickinson
BACKGROUND: Acute kidney injury affects ~70% of asphyxiated newborns, and increases their risk of developing chronic kidney disease later in life. Acute kidney injury is driven by renal oxygen deprivation during asphyxia, thus we hypothesized that creatine administered antenatally would protect the kidney from the long-term effects of birth asphyxia. METHODS: Pregnant spiny mice were fed standard chow or chow supplemented with 5% creatine from 20-d gestation (midgestation)...
February 1, 2017: Pediatric Research
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