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https://www.readbyqxmd.com/read/28505705/crossed-ectopic-kidney-prenatal-diagnosis-and-postnatal-follow-up
#1
Michal Zajicek, Sharon Perlman, Benjamin Dekel, Einat Lahav, Danny Lotan, Dor Lotan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To investigate prenatal diagnosis and postnatal outcome of fetuses with crossed ectopic kidney METHODS: Cases referred for an empty renal fossa and diagnosed with crossed ectopic kidney confirmed postnatally were analyzed retrospectively over a period of 10 years. Prenatal diagnosis was established following the detection of one kidney in a normal position, and a second ipsilateral kidney fed by abnormal blood vessels on Doppler flow. RESULTS: Between 2005 and 2015, 185 fetuses were referred for an empty renal fossa...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28497274/endocytic-receptor-lrp2-megalin-of-holoprosencephaly-and-renal-fanconi-syndrome
#2
REVIEW
Thomas E Willnow, Annabel Christ
Megalin (or LRP2) is an endocytic receptor that plays a central role in embryonic development and adult tissue homeostasis. Loss of this receptor in congenital or acquired diseases results in multiple organ dysfunctions, including forebrain malformation (holoprosencephaly) and renal reabsorption defects (renal Fanconi syndrome). Here, we describe current concepts of the mode of receptor action that include co-receptors and a repertoire of different ligands, and we discuss how these interactions govern functional integrity of the kidney and the brain, and cause disease when defective...
May 11, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28490528/combining-new-tools-to-assess-renal-function-and-morphology-a-holistic-approach-to-study-the-effects-of-aging-and-a-congenital-nephron-deficit
#3
Stefania Geraci, Jorge Chacón-Caldera, Luise Anne Cullen-McEwen, Lothar R Schad, Carsten Sticht, Victor G Puelles, John F Bertram, Norbert Gretz
Recently, new methods for assessing renal function in conscious mice (transcutaneous assessment) and for counting and sizing all glomeruli in whole kidneys (MRI) were described. In the present study, these methods were used to assess renal structure and function in aging mice, and in mice born with a congenital low nephron endowment. Age-related nephron loss was analysed in adult C57BL/6 mice (10-50 weeks of age) and congenital nephron deficit was assessed in glial cell line-derived neurotrophic factor heterozygous (GDNF HET) null mutant mice...
May 10, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28481830/dose-prescription-and-delivery-in-neonates-with-congenital-heart-diseases-treated-with-continuous-veno-venous-hemofiltration
#4
Zaccaria Ricci, Francesco Guzzi, Germana Tuccinardi, Luca Di Chiara, William Clark, Stuart L Goldstein, Claudio Ronco
OBJECTIVES: Renal replacement therapy may be required for acute kidney injury treatment in neonates with complex cardiac conditions. Continuous veno-venous hemofiltration is applied safely in this population but no published recommendations for dose prescription in neonates currently exist. The aim of our study was to evaluate the effects of a relatively small dialysis dose on critically ill neonates. DESIGN: Retrospective analysis of clinical charts. SETTING: Pediatric Cardiac ICU...
May 5, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28473699/ocular-pathology-of-oculocerebrorenal-syndrome-of-lowe-novel-mutations-and-genotype-phenotype-analysis
#5
Emilie Song, Na Luo, Jorge A Alvarado, Maria Lim, Cathleen Walnuss, Daniel Neely, Dan Spandau, Alireza Ghaffarieh, Yang Sun
Mutations in the OCRL1 gene result in the oculocerebrorenal syndrome of Lowe, with symptoms including congenital bilateral cataracts, glaucoma, renal failure, and neurological impairments. OCRL1 encodes an inositol polyphosphate 5-phosphatase which preferentially dephosphorylates phosphatidylinositide 4,5 bisphosphate (PI(4,5)P2). We have identified two novel mutations in two unrelated Lowe syndrome patients with congenital glaucoma. Novel deletion mutations are detected at c.739-742delAAAG in Lowe patient 1 and c...
May 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28471482/vascular-endothelial-growth-factor-a-gene-polymorphism-is-associated-with-congenital-renal-lesions-in-children-with-urinary-tract-infections
#6
Eirini Bimpaki, Maria Bitsori, Christiana Choulaki, Emmanouil Galanakis
AIM: This study investigated the relationship between vascular endothelial growth factor A (VEGF-A)-460C/T functional gene polymorphism and renal parenchymal lesions, vesicoureteral reflux and other urinary tract abnormalities in children with a urinary tract infection (UTI). METHODS: VEGF-A-460C/T gene polymorphism was investigated with restriction length polymorphism analysis in 76 children with their first UTI and in 63 controls without infections. Genotype and allele frequencies were compared between children with urinary tract infections and controls and between different groups with UTIs...
May 4, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28469738/herlyn-werner-wunderlich-syndrome-sonographic-and-magnetic-resonance-mr-imaging-findings-of-this-rare-urogenital-anomaly
#7
Sukriye Yilmaz, Adalet Elcin Yildiz, Suat Fitoz
BACKGROUND: Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by uterus didelphys with blind hemivagina and ipsilateral renal agenesis. Children usually have progressive pelvic pain after menarche, palpable mass due to hemihaemato(metro)colpos or pelvic inflammatory disease. The diagnosis usually requires a suspicion of this rare genitourinary syndrome. CASE REPORTS: We present ultrasonography and MR imaging findings of this rare anomaly in two cases...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28469687/serum-levels-of-tumor-necrosis-factor-%C3%AE-and-interleukins-in-children-with-congenital-heart-disease
#8
Noor Mohammand Noori, Iraj Shahramian, Alireza Teimouri, Behrooz Keyvani, Maziar Mahjoubifard
Background: Levels of anti-inflammatory cytokines in blood have a positive relationship with congenital heart disease (CHD). We sought to assess the difference in serum cytokines levels between children with and without CHD.  Methods: We recruited 60 patients with CHD and 30 healthy children, from 2013 to 2014. Patients with primary pulmonary hypertension; metabolic diseases; renal, endocrine, and chronic inflammatory diseases; fever; infection in the preceding 3 weeks; and malnutrition were excluded. Participants' demographic data were measured, and their cardiac diseases were diagnosed via echocardiography...
January 2017: Journal of Tehran Heart Center
https://www.readbyqxmd.com/read/28468105/-different-meanings-of-long-stranguria-in-medicaland-historical-books-in-han-dynasty
#9
T L Zhang, Q Y Liu
The word "long (stranguria)" is seen both in historical and medical works in the Han Dynasty, but with much different meanings. In medical books, including Nei jing(Inner Canon), Wu shi er bing fang(Prescriptions for Fifty-two Diseases), and Wu wei yi jian(Medical Bamboo slips of Wuwei), Long refers to incontinence of urination. However, in historical books, Long is usually expressed as "pi long" , referring to different conditions, including lame, fatigue, and disability, all congenital or acquired renal deficient illness...
March 28, 2017: Zhonghua Yi Shi za Zhi, Chinese Journal of Medical History
https://www.readbyqxmd.com/read/28466073/completely-isolated-retroperitoneal-enteric-duplication-cyst-with-adenocarcinoma-transformation-managed-with-robotic-radical-nephrectomy
#10
Kassem Faraj, Luke Edwards, Alia Gupta, Brian Seifman
Background: Enteric duplication cysts are congenital malformations that typically affect children in infancy, but can also affect adults. Rarely, these cysts can be complicated by malignancy. We present the first case of retroperitoneal duplication cyst that was complicated by malignancy transformation and managed by robot-assisted excision. Case presentation: A 64-year-old female with a history of a left-sided renal cyst presented with a 4-month history of abdominal pain and fatigue. MRI revealed a bilobed cyst, with components measuring 6...
2017: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/28457076/improvement-in-creatinine-clearance-after-open-heart-surgery-in-infants-as-an-early-indicator-of-surgical-success
#11
Amit Dagan, Ovadia Dagan
BACKGROUND: Early surgical correction of congenital heart malformations in neonates and small infants may be complicated by acute kidney injury (AKI), which is associated with higher morbidity and mortality rates, especially in patients who require dialysis. Glomerular filtration rate (GFR) is considered the best measurement of renal function which, in neonates and infants, is highly dependent on heart function. OBJECTIVES: To determine whether measurements of creatinine clearance after open heart surgery in neonates and young infants can serve as an early indicator of surgical success or AKI...
December 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28452212/the-prevalence-of-hypertension-in-children-with-renal-scars
#12
Nakysa Hooman, Roya Isa-Tafreshi, Seyed-Hassan Mostafavi, Farideh Hallaji, Azita Tavasoli, Hasan Otukesh
BACKGROUND: Hypertension (HTN) is a late outcome of congenital or acquired renal scar. We used ambulatory blood pressure to assess the early blood pressure abnormalities in children with history of urinary tract infection with various degrees of renal scars. METHODS: Between 2009 and 2011, 60 (45 females, 15 males) children aged 5-15 years and height equal or more than 120 cm with previous history of febrile urinary tract infection were entered into the study. All children went on 24-hour ambulatory blood pressure monitoring (24-H ABPM)...
June 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28449720/evolution-of-blood-pressure-in-children-with-congenital-and-acquired-solitary-functioning-kidney
#13
Riccardo Lubrano, Isotta Gentile, Raffaele Falsaperla, Giovanna Vitaliti, Alessia Marcellino, Marco Elli
BACKGROUND: It is not yet clear if blood pressure and renal function changes evolve differently in children with a congenital or acquired solitary functioning kidney. This study aims to assess if there are any differences between these two types of solitary kidney patients. METHODS: Current research is a retrospective study assessing the evolution of glomerular filtration rate, proteinuria, and blood pressure in clinical records of 55 children with a solitary functioning kidney (37 congenital and 18 acquired)...
April 27, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28449285/research-review-childhood-chronic-physical-illness-and-adult-emotional-health-a-systematic-review-and-meta-analysis
#14
REVIEW
Ekin Secinti, Ellen J Thompson, Marcus Richards, Darya Gaysina
BACKGROUND: Childhood chronic physical illness is associated with a greater vulnerability for emotional problems (i.e. depression and anxiety) in childhood. However, little is known about life-long effects of childhood chronic physical illness on mental health. The present study aims to systematically review evidence for associations between eight chronic physical illnesses with childhood onset (arthritis, asthma, cancer, chronic renal failure, congenital heart disease, cystic fibrosis, type 1 diabetes, and epilepsy) and adult emotional problems...
April 27, 2017: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/28440405/copy-number-variation-analysis-in-familial-nonsyndromic-congenital-anomalies-of-the-kidney-and-urinary-tract-evidence-for-the-causative-role-of-a-transposable-element-associated-genomic-rearrangement
#15
Ekaterini Siomou, Artemis G Mitsioni, Vasileios Giapros, Ioanna Bouba, Dimitrios Noutsopoulos, Ioannis Georgiou
Most congenital anomalies of the kidney and urinary tract (CAKUT) are sporadic, but familial occurrence has been described, suggesting a genetic contribution. Copy‑number variations (CNVs) were detected in patients with CAKUT to identify possible novel genomic regions associated with CAKUT. CNVs were investigated in 7 children with CAKUT from three unrelated families using array comparative genomic hybridization: female monozygotic twins with bilateral duplex collecting system/vesicoureteral reflux (VUR)/unilateral renal hypodyspasia (URHD); two male siblings with VUR/URHD; 3 male second cousins, one with bilateral VUR/URHD, one with bilateral VUR and one with ureterovesical junction obstruction (UVJO)...
June 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28431661/hwang-jh-do-ys-park-kb-chung-hh-park-hs-hyun-d-embolization-of-congenital-renal-arteriovenous-malformations-using-ethanol-and-coil-depending-on-angiographic-types-j-vasc-interv-radiol-2017-28-64-70
#16
(no author information available yet)
No abstract text is available yet for this article.
May 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28430913/prediction-of-adverse-events-after-catheter-based-procedures-in-adolescents-and-adults-with-congenital-heart-disease-in-the-impact-registry
#17
Ada C Stefanescu Schmidt, Aimee Armstrong, Kevin F Kennedy, David Nykanen, Jamil Aboulhosn, Ami B Bhatt
Aims: We sought to identify factors associated with major adverse events (MAE) after cardiac catheterization in adolescents and adults with congenital heart disease (CHD), and create the first model to individualize risk discussions in this growing population. Methods and results: Improving Pediatric and Adult Congenital Treatment (IMPACT), a National Cardiovascular Data Registry, contains congenital catheterization data from over 87 hospitals in the United States...
April 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28426529/diagnostic-utility-of-pax8-pax2-and-ngfr-immunohistochemical-expression-in-pediatric-renal-tumors
#18
Nicoleta C Arva, Jeffrey Bonadio, Elizabeth J Perlman, Mariana M Cajaiba
Pediatric renal tumors (PRT) with small round blue or spindle cell morphology can be diagnostically challenging and only a limited number of immunohistochemical markers have been documented to help in the diagnosis: paired box (Pax) 2 and nerve growth factor receptor (NGFR) positivity have been demonstrated in Wilms tumor (WT) and clear cell sarcoma of the kidney (CCSK), respectively. However, the immunohistochemical expression of these markers in other PRT remains unknown. This study investigated Pax8, Pax2, and NGFR immunophenotype in a large series of PRT...
April 19, 2017: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/28422942/development-of-tandem-mass-spectrometry-based-creatinine-measurement-using-dried-blood-spot-for-newborn-mass-screening
#19
Masaru Nakano, Osamu Uemura, Masataka Honda, Tetsuya Ito, Yoko Nakajima, Shinji Saitoh
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most prevalent etiology of pediatric chronic kidney disease (CKD). However, no robust mass screening methods have been developed to detect patients with CAKUT, making early intervention to prevent progressive renal failure challenging. METHODS: We applied tandem mass spectrometry (MS/MS) to measure the creatinine (Cr) value from dried blood spot (DBS) analysis, which has been used for newborn mass screening...
April 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28417852/nuclear-medicine-in-pediatric-nephro-urology-an-overview
#20
REVIEW
Iosif Mendichovszky, Bernardita Troncoso Solar, Naima Smeulders, Marina Easty, Lorenzo Biassoni
In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful...
May 2017: Seminars in Nuclear Medicine
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