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Pediatric Renal

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https://www.readbyqxmd.com/read/28329656/pediatric-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-the-us
#1
Derek Y Hsu
Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening blistering disorders. Few studies have addressed SJS/TEN in children. We sought to determine risk factors, comorbidities, inpatient burden and mortality in US children with SJS, SJS-TEN and TEN. We analyzed data from the 2009-2012 Nationwide Inpatient Sample (NIS), containing a representative 20% sample of all hospitalizations in the US. SJS, SJS-TEN and TEN were identified by a validated algorithm using ICD-9-CM codes...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329394/intermediate-follow-up-of-pediatric-patients-with-hemolytic-uremic-syndrome-during-the-2011-outbreak-caused-by-e-coli-o104-h4
#2
Sebastian Loos, Wiebke Aulbert, Bernd Hoppe, Thurid Ahlenstiel-Grunow, Birgitta Kranz, Charlotte Wahl, Hagen Staude, Alexander Humberg, Kerstin Benz, Martin Krause, Martin Pohl, Max C Liebau, Raphael Schild, Johanna Lemke, Ortraud Beringer, Dominik Müller, Christoph Härtel, Marianne Wigger, Udo Vester, Martin Konrad, Dieter Haffner, Lars Pape, Jun Oh, Markus J Kemper
Background.: In 2011 Escherichia coli O104:H4 caused an outbreak with over 800 cases of hemolytic uremic syndrome (HUS) in Germany, including 90 children. Data on the intermediate outcome in children after HUS due to E. coli O104:H4 have been lacking. Methods.: Follow-up data were gathered retrospectively from the medical records of patients who had been included in the German Pediatric HUS Registry during the 2011 outbreak. Results.: A total of 72/89 (81%) of the patients was included after a median follow-up of 3...
March 13, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28326824/osteopontin-its-potential-role-in-cancer-of-children-and-young-adults
#3
Gabrielle Karpinsky, Aleksandra Fatyga, Malgorzata Anna Krawczyk, Madeleine Chamera, Natalia Sande, Dagmara Szmyd, Ewa Izycka-Swieszewska, Ewa Bien
OBJECTIVE: Osteopontin (OPN) is aglyco-phosphoprotein, involved in tissue remodeling, inflammation and boneresorption. In various adult neoplasms OPN was shown to correlate with cancer progression, invasiveness and metastasis. AIM: to define the role of OPN in malignancies of children and young adults. MATERIAL AND METHODS: a structured PubMed and Google Scholar literature analysis based on reports published in English between I'1995 and XII'2015...
March 14, 2017: Biomarkers in Medicine
https://www.readbyqxmd.com/read/28322484/tfe3-positive-renal-cell-carcinoma-occurring-in-three-children-with-dysfunctional-kidneys-on-immunosuppression
#4
Beverly A Schaefer, Theodore S Johnson, David K Hooper, Jaimie D Nathan, James I Geller
Pediatric RCC is a rare pediatric neoplasm and is distinctly different compared to adult RCC, often demonstrating translocation morphology evidenced by unique histopathological features and TFE3 or TFEB nuclear expression. We report three cases of pediatric TFE3 positive RCC (TFE3-RCC) occurring in the setting of chronic kidney disease and long-term pharmacological immunosuppression, including two cases that developed in the native kidney following kidney transplantation. Together, these cases suggest that the kidney microenvironment in combination with immune dysregulation is likely contributing factors in the pathogenesis of some pediatric RCC, warranting further study...
March 21, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28318500/mutations-in-tmem260-cause-a-pediatric-neurodevelopmental-cardiac-and-renal-syndrome
#5
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/28317178/successful-third-renal-transplantation-in-a-child-with-an-occluded-inferior-vena-cava-a-novel-technique-to-use-the-venous-interposition-between-the-transplant-renal-vein-and-the-infrahepatic-inferior-vena-cava
#6
Masaki Muramatsu, Seiichiro Shishido, Yusuke Takahashi, Yuko Hamasaki, Hiroshi Yoshimura, Hiroshi Nihei, Yoshihiro Itabashi, Takeshi Kawamura, Atsushi Aikawa
A girl aged 11 years and 3 months with occlusion of the inferior vena cava had experienced two renal transplant graft failures since birth. The third renal transplant from a live donor was carried out. Preoperative evaluation showed that the arteries from the right common to the right external iliac artery were absent, and the ilio-caval vein was occluded below the level of the renal vein. The donor's renal artery was anastomosed to the aorta. The donor's ovarian and large saphenous veins were used to extend the transplant renal vein to the recipient's patent inferior vena cava...
March 19, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#7
C Neissner, C Schepp, W H Rösch
The Silver-Russell syndrome (SRS) is a rare imprinting disease associated with pre- and postnatal growth retardation, craniofacial features, and asymmetry. Genitourinary abnormalities are seen in up to 20% of affected individuals. Apart from structural renal anomalies, cryptorchidism and hypospadias occur frequently in boys, while girls often have anomalies similar to those in Mayer-Rokitansky-Küster-Hauser syndrome with congenital hypoplasia or aplasia of the uterus and upper part of the vagina. Frequently hypospadias repair and orchiopexy are difficult because of lack of buccal mucosa due to facial dysmorphism and intraabdominal position of the testicles, respectively...
March 17, 2017: Der Urologe. Ausg. A
https://www.readbyqxmd.com/read/28302901/treatment-of-renal-angiomyolipoma-and-other-hamartomas-in-patients-with-tuberous-sclerosis-complex
#8
REVIEW
Joshua A Samuels
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection...
March 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28299466/development-of-oral-cancer-vaccine-using-recombinant-bifidobacterium-displaying-wilms-tumor-1-protein
#9
Koichi Kitagawa, Tsugumi Oda, Hiroki Saito, Ayame Araki, Reina Gonoi, Katsumi Shigemura, Yoshiko Hashii, Takane Katayama, Masato Fujisawa, Toshiro Shirakawa
Several types of vaccine-delivering tumor-associated antigens (TAAs) have been developed in basic and clinical research. Wilms' tumor 1 (WT1), identified as a gene responsible for pediatric renal neoplasm, is one of the most promising TAA for cancer immunotherapy. Peptide and dendritic cell-based WT1 cancer vaccines showed some therapeutic efficacy in clinical and pre-clinical studies but as yet no oral WT1 vaccine can be administrated in a simple and easy way. In the present study, we constructed a novel oral cancer vaccine using a recombinant Bifidobacterium longum displaying WT1 protein...
March 15, 2017: Cancer Immunology, Immunotherapy: CII
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
#10
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/28293058/ruptured-hemorrhagic-cyst-of-undescended-ovary-mimicking-mucocele-a-rare-pediatric-case
#11
Tamer Sekmenli, Metin Gündüz, Ilhan Ciftci
Undescended ovary is a rare entity and usually presentedas a case report. It is associated with urinary and uterine anomalies. Symptomatic patients are diagnosed during surgery. Most of the patients are asymptomatic and treatment is unnecessary. They are incidentally diagnosed during infertility evaluation and treatment such as ovarian hyperstimulation studies. A 15-year-old female patient presented with the diagnosis of renal cystic massas identifiedduring ultrasonography in another hospital. Abdominal computedtomography image was requested...
January 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/28290633/proteinuria-in-children-evaluation-and-differential-diagnosis
#12
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/28289595/case-report-of-a-novel-mutation-of-the-eya1-gene-in-a-patient-with-branchio-oto-renal-syndrome
#13
L Spahiu, B Merovci, V Ismaili Jaha, A Batalli Këpuska, H Jashari
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediatric Clinic, University Clinical Center of Kosovo, Pristina, Republic of Kosovo because of severe renal insufficiency diagnosed 6 years ago, which progressed to end-stage renal failure...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28288246/acute-kidney-injury-in-children-with-type-1-diabetes-hospitalized-for-diabetic-ketoacidosis
#14
Brenden E Hursh, Rebecca Ronsley, Nazrul Islam, Cherry Mammen, Constadina Panagiotopoulos
Importance: Acute kidney injury (AKI) in children is associated with poor short-term and long-term health outcomes; however, the frequency of AKI in children hospitalized for diabetic ketoacidosis (DKA) has not been previously examined. Objectives: To determine the proportion of children hospitalized for DKA who develop AKI and to identify the associated clinical and biochemical markers of AKI. Design, Setting, and Participants: This medical record review of all DKA admissions from September 1, 2008, through December 31, 2013, was conducted at British Columbia Children's Hospital, the tertiary pediatric hospital in British Columbia, Canada...
March 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28285838/incidental-findings-on-pediatric-abdominal-magnetic-resonance-angiography
#15
Nattinee Leelakanok, Matthew A Zapala, Emily A Edwards, Andrew S Phelps, John D Mackenzie, Jesse Courtier
RATIONALE AND OBJECTIVES: Abdominal magnetic resonance angiography (MRA) has gained favor in pediatric patients owing to its lack of ionizing radiation and noninvasive nature. Reports exist regarding incidental findings on body MRA in adult patients. However, the incidental findings in pediatric abdominal MRA have not been previously reported. Our study aims to determine the frequencies, characteristics, and categories of incidental findings in pediatric patients undergoing abdominal MRA...
March 9, 2017: Academic Radiology
https://www.readbyqxmd.com/read/28285784/pediatric-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis-in-the-united-states
#16
Derek Y Hsu, Joaquin Brieva, Nanette B Silverberg, Amy S Paller, Jonathan I Silverberg
BACKGROUND: Little is known about the epidemiology of Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) in children. OBJECTIVE: We sought to determine the morbidity, mortality, and comorbid health conditions of SJS and TEN in US children. METHODS: This was a cross-sectional study of the 2009 to 2012 Nationwide Inpatient Sample, which contains a representative 20% sample of all US hospitalizations. Sociodemographics, inflation-adjusted cost, length of stay, comorbidities, and mortality were analyzed using descriptive statistics and multivariate regression analyses...
March 9, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28285079/defibrotide-for-patients-with-hepatic-veno-occlusive-disease-sinusoidal-obstruction-syndrome-vod-sos-interim-results-from-a-treatment-ind-study
#17
Paul G Richardson, Angela R Smith, Brandon M Triplett, Nancy A Kernan, Stephan A Grupp, Joseph H Antin, Leslie Lehmann, Tsiporah Shore, Massimo Iacobelli, Maja Miloslavsky, Robin Hume, Alison L Hannah, Bijan Nejadnik, Robert J Soiffer
Hepatic veno-occlusive disease, or sinusoidal obstruction syndrome (VOD/SOS), is a serious and potentially fatal complication of conditioning for hematopoietic stem cell transplantation (HSCT) or of chemotherapy regimens alone. Defibrotide is a complex mixture of single-stranded polydeoxyribonucleotides that is approved in the United States for treatment of hepatic VOD/SOS with renal or pulmonary dysfunction post-HSCT and in the European Union, Israel, and South Korea for treatment of severe hepatic VOD/SOS post-HSCT...
March 8, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28284824/-report-on-chronic-dialysis-in-france-in-2016
#18
Société Francophone de Néphrologie Dialyse Et Transplantation
The report on dialysis in France in 2016 from the French Speaking Society of Nephrology Dialysis and Transplantation (SFNDT) provides an exhaustive and documented inventory on dialysis in France. It underlines the organizations that are important in 2016 to maintain a high quality dialysis. Several measures are proposed to maintain and improve the care of dialysis in France: (1) The regulation of dialysis treatment in France must be maintained; (2) a burden of care indicator is proposed to ensure that patients requiring the most care are treated in the centers...
March 8, 2017: Néphrologie & Thérapeutique
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
#19
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/28281356/interfractional-renal-and-diaphragmatic-position-variation-during-radiotherapy-in-children-and-adults-is-there-a-difference
#20
Irma W E M van Dijk, Sophie C Huijskens, Rianne de Jong, Jorrit Visser, Raquel Dávila Fajardo, Coen R N Rasch, Tanja Alderliesten, Arjan Bel
BACKGROUND: Pediatric safety margins are generally based on data from adult studies; however, adult-based margins might be too large for children. The aim of this study was to quantify and compare interfractional organ position variation in children and adults. MATERIAL AND METHODS: For 35 children and 35 adults treated with thoracic/abdominal irradiation, 850 (range 5-30 per patient) retrospectively collected cone beam CT images were registered to the reference CT that was used for radiation treatment planning purposes...
March 10, 2017: Acta Oncologica
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