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https://www.readbyqxmd.com/read/29142961/the-renal-pathology-of-obesity
#1
REVIEW
Nobuo Tsuboi, Yusuke Okabayashi, Akira Shimizu, Takashi Yokoo
Obesity causes various structural, hemodynamic, and metabolic alterations in the kidney. Most of these are likely to be compensatory responses to the systemic increase in metabolic demand that is seen with obesity. In some cases, however, renal injury becomes clinically apparent as a result of compensatory failure. Obesity-related glomerulopathy is the best known of such disease states. Factors that may sensitize obese individuals to renal compensatory failure and associated injury include the severity and number of obesity-associated conditions or complications, including components of metabolic syndrome, and the mismatch of body size to nephron mass, due to nephron reductions of congenital or acquired origin...
March 2017: KI Reports
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#2
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29136563/generation-of-human-ipsc-line-from-a-patient-with-laterality-defects-and-associated-congenital-heart-anomalies-carrying-a-dand5-missense-alteration
#3
Fernando Cristo, José M Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Luís Pereira de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A Belo
A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro...
October 31, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29135146/-laparoscopic-heminephrureterectomy-for-duplex-kidney-in-children
#4
I M Kagantsov, V V Sizonov, V I Dubrov, S G Bon-Darenko, N R Akramov, O S Shmyrov, G I Kuzovleva, N V Markov, D E Sablin, R V Surov, A V Pirogov, A A Logval
INTRODUCTION: Duplication of the upper urinary tract is one of the most common congenital urological anomalies. In patients with critically decreased or lost function of one of the renal segments, heminephrureterectomy is usually the treatment of choice. Until recently, this was an open surgery; in cases of complete removal of the ureter, an additional incision in the iliac region was required. Currently, heminephrureterectomy is increasingly performed laparoscopically. We report the experience in laparoscopic heminephrureterectomy (LHNUE) in 10 clinics in Russia and Belarus...
October 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29133275/normal-values-for-myocardial-deformation-within-the-right-heart-measured-by-feature-tracking-cardiovascular-magnetic-resonance-imaging
#5
Boyang Liu, Ahmed M Dardeer, William E Moody, Nicola C Edwards, Lucy E Hudsmith, Richard P Steeds
BACKGROUND: Reproducible and repeatable assessment of right heart function is vital for monitoring congenital and acquired heart disease. There is increasing evidence for the additional value of myocardial deformation (strain and strain rate) in determining prognosis. This study aims to determine the reproducibility of deformation analyses in the right heart using cardiovascular magnetic resonance feature tracking (FT-CMR); and to establish normal ranges within an adult population. METHODS: A cohort of 100 healthy subjects containing 10 males and 10 females from each decade of life between the ages of 20 and 70 without known congenital or acquired cardiovascular disease, hypertension, diabetes, dyslipidaemia or renal, hepatic, haematologic and systemic inflammatory disorders underwent FT-CMR assessment of right ventricular (RV) and right atrial (RA) myocardial strain and strain rate...
October 31, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29132469/-clinical-characteristics-and-prognostic-analysis-of-children-with-congenital-heart-disease-complicated-by-postoperative-acute-kidney-injury
#6
Lian Duan, Guo-Huang Hu, Meng Jiang, Cheng-Liang Zhang
OBJECTIVE: To analyze the perioperative clinical data of children with congenital heart disease complicated by acute kidney injury (AKI) after cardiopulmonary bypass (CPB) surgery, and to explore potential factors influencing the prognosis. METHODS: A retrospective analysis was performed among 118 children with congenital heart disease who developed AKI within 48 hours after CPB surgery. RESULTS: In the 118 patients, 18 died after 48 hours of surgery...
November 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29130854/transarterial-embolization-of-a-renal-artery-aneurysm-concomitant-with-renal-arteriovenous-fistula
#7
Keerati Hongsakul, Kittipitch Bannangkoon, Ussanee Boonsrirat, Boonprasit Kritpracha
Congenital renal artery aneurysm is uncommon. Moreover, renal artery aneurysm concomitant with a congenital renal arteriovenous fistula is extremely rare. Transarterial embolization is the first-line treatment for these conditions. We report a case of a patient with congenital renal artery aneurysm concomitant with a congenital renal arteriovenous fistula of the upper polar left renal artery which was successfully treated by transarterial embolization with coil, glue, and Amplatzer vascular plug.
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29130853/endovascular-treatment-of-12-cases-of-renal-arteriovenous-malformations-the-experience-of-1-center-and-an-overview-of-the-literature
#8
Zhen-Yu Jia, Chun-Gao Zhou, Jin-Guo Xia, Lin-Bo Zhao, Wen Zhang, Sheng Liu, Hai-Bin Shi
OBJECTIVES: Congenital renal arteriovenous malformations (rAVMs) represent rare vascular diseases. The heterogeneous vascular architecture of each rAVM determines the endovascular treatment techniques employed. We reported our experience with the endovascular treatment of a series of rAVMs. MATERIALS: This retrospective study consisted of 12 patients with 12 rAVMs who underwent renal arterial embolization (RAE) in our hospital. Embolic materials, including particles, liquid embolic agents (n-butyl 2-cyanoacrylate, Onyx, and ethanol), and coils, were selectively used based on the decisions of interventional radiologists...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29130116/hearing-loss-and-renal-syndromes
#9
Paul J Phelan, Michelle N Rheault
The association between ear and kidney abnormalities has long been recognized; however, the connection between these two disparate organs is not always straightforward. Although Alport syndrome is the most well-known, there are over 20 disorders that need to be considered in the differential diagnosis of patients with both ear and kidney abnormalities. Commonalities are present between the kidney and ear in a number of structural proteins, developmentally important transcription factors, ciliary proteins, and channel proteins, and mutations in these pathways can lead to disease in both organ systems...
November 12, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29123444/imaging-findings-of-the-unusual-presentations-associations-and-clinical-mimics-of-acute-appendicitis
#10
REVIEW
Mustafa Kemal Demir, Yildiray Savas, Yavuz Furuncuoglu, Tarik Cevher, Serdar Demiral, Babek Tabandeh, Melisa Aslan
There are many kinds of unusual presentations or associations and clinical mimics of acute appendicitis, and definitive diagnosis requires knowledge of the imaging findings in some cases. The unusual presentations and associations of acute appendicitis included in this study are perforated appendicitis, acute appendicitis occurring in hernias, acute appendicitis with cystic endosalpingiosis, intussusception of appendix, and acute appendicitis with pregnancy. We also present uncommon gastrointestinal, urinary and gynecologic clinical mimics of acute appendicitis including anomalous congenital band, duplication cysts, giant Meckel's diverticulitis, inflammatory fibroid polyp, renal artery thrombosis, spontaneous urinary extravasation and OHVIRA syndrome...
October 2017: Eurasian Journal of Medicine
https://www.readbyqxmd.com/read/29123002/peritoneal-dialysis-catheter-removal-post-transplant-a-rare-case-of-delayed-bowel-perforation
#11
Andrew P Maxted, Brian Davies, Daniel Colliver, Alun Williams, Andrew Lunn
Peritoneal dialysis (PD) is a well-established form of renal replacement therapy and the practice of leaving catheters in situ post-transplantation widely accepted. We present a rare complication: a child presenting with anal protrusion of the PD catheter.The patient is an 11-year-old boy with a background of renal dysplasia and congenital cutis laxa. Twenty-three weeks after dialysis was commenced, the patient underwent a renal transplant. Thirteen weeks post-transplant, the patient felt an unusual sensation after defecation...
November 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/29122898/acute-renal-artery-infarction-secondary-to-dysfibrinogenemia
#12
Kyle Keinath, Tyler Church, Brett Sadowski, Jeremy Perkins
Renal infarction is a rare occurrence accounting for 0.007% of patients seen in the emergency department for renal insufficiency or hypertension. Dysfibrinogenemia is also rare, and the combination of renal artery infarct in the setting of congenital dysfibrinogenemia has not been described in the literature. Our patient, with a remote history of congenital dysfibrinogenemia with no known haemorrhagic or thrombotic complications, presented with acute flank pain and was subsequently diagnosed with an acute renal arterial infarction...
November 8, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29122828/referrals-to-a-perinatal-specialist-palliative-care-consult-service-in-ireland-2012-2015
#13
Des L McMahon, Marie Twomey, Maeve O'Reilly, Mary Devins
OBJECTIVE: To analyse the referral patterns of perinatal patients referred to a specialist palliative care service (SPCS), their demographics, diagnoses, duration of illness, place of death and symptom profile. DESIGN: A retrospective chart review of all perinatal referrals over a 4-year period to the end of 2015. SETTING: A consultant-led paediatric SPCS at Our Lady's Children's Hospital, Crumlin, Dublin, and the Coombe Women & Infants University Hospital, Dublin...
November 9, 2017: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29121720/incidence-predictors-and-outcomes-of-infective-endocarditis-in-a-contemporary-adult-congenital-heart-disease-population
#14
Benjamin Moore, Jacob Cao, Irina Kotchetkova, David S Celermajer
BACKGROUND: The prevalence of congenital heart disease (CHD) in the adult population is steadily increasing. A substrate of prosthetic material and residual lesions, constantly evolving as surgical techniques change over time, predispose these patients to the potentially devastating complication of infective endocarditis (IE). METHODS: We retrospectively reviewed 2935 patients in our adult CHD database for all cases of endocarditis between 1991 and 2016. Incidence, clinical course and predictors of outcomes were analysed...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29117181/pancreatic-uptake-and-radiation-dosimetry-of-6-18f-fluoro-l-dopa-from-pet-imaging-studies-in-infants-with-congenital-hyperinsulinism
#15
Pradeep K Garg, Stephen J Lokitz, Lisa Truong, Burton Putegnat, Courtney Reynolds, Larry Rodriguez, Rachid Nazih, Jonathan Nedrelow, Miguel de la Guardia, John K Uffman, Sudha Garg, Paul S Thornton
METHODS: After injecting 25.6 ± 8.8 MBq (0.7 ± 0.2 mCi) of 18F-Fluoro-L-DOPA intravenously, three static PET scans were acquired at 20, 30, and 40 min post injection in 3-D mode on 10 patients (6 male, 4 female) with congenital hyperinsulinism. Regions of interest (ROIs) were drawn over several organs visible in the reconstructed PET/CT images and time activity curves (TACs) were generated. Residence times were calculated using the TAC data. The radiation absorbed dose for the whole body was calculated by entering the residence times in the OLINDA/EXM 1...
2017: PloS One
https://www.readbyqxmd.com/read/29110636/phenotypic-and-genotypic-aspects-of-townes-brock-syndrome-case-report-of-patient-in-southern-brazil-with-a-new-sall1-hotspot-region-nonsense-mutation
#16
Paulo Breno Noronha Liberalesso, Mara L Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect...
November 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29109083/activated-hedgehog-gli-signaling-causes-congenital-ureteropelvic-junction-obstruction
#17
Sepideh Sheybani-Deloui, Lijun Chi, Marian V Staite, Jason E Cain, Brain J Nieman, R Mark Henkelman, Brandon J Wainwright, S Steven Potter, Darius J Bagli, Armando J Lorenzo, Norman D Rosenblum
Intrinsic ureteropelvic junction obstruction is the most common cause of congenital hydronephrosis, yet the underlying pathogenesis is undefined. Hedgehog proteins control morphogenesis by promoting GLI-dependent transcriptional activation and inhibiting the formation of the GLI3 transcriptional repressor. Hedgehog regulates differentiation and proliferation of ureteric smooth muscle progenitor cells during murine kidney-ureter development. Histopathologic findings of smooth muscle cell hypertrophy and stroma-like cells, consistently observed in obstructing tissue at the time of surgical correction, suggest that Hedgehog signaling is abnormally regulated during the genesis of congenital intrinsic ureteropelvic junction obstruction...
November 6, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29108006/incidence-and-outcomes-of-acute-kidney-injury-in-extremely-low-birth-weight-infants
#18
Chien-Chung Lee, Oi-Wa Chan, Mei-Yin Lai, Kai-Hsiang Hsu, Tai-Wei Wu, Wai-Ho Lim, Yu-Cheng Wang, Reyin Lien
BACKGROUND: Acute kidney injury (AKI) is a common event in the neonatal intensive care unit (NICU), especially in extremely-low-birth-weight (ELBW) infants. This cohort study investigated the incidence of and risk factors for AKI in ELBW infants and their overall survival at the postmenstrual age (PMA) of 36 weeks. METHODS: All ELBW infants admitted to our NICU between January 2010 and December 2013 were enrolled. Those who died prior to 72 hours of life, had congenital renal abnormality, or had only one datum of the serum creatinine (SCr) level after the first 24 hours of life were excluded...
2017: PloS One
https://www.readbyqxmd.com/read/29100091/mutations-in-greb1l-cause-bilateral-kidney-agenesis-in-humans-and-mice
#19
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29100090/exome-wide-association-study-identifies-greb1l-mutations-in-congenital-kidney-malformations
#20
Simone Sanna-Cherchi, Kamal Khan, Rik Westland, Priya Krithivasan, Lorraine Fievet, Hila Milo Rasouly, Iuliana Ionita-Laza, Valentina P Capone, David A Fasel, Krzysztof Kiryluk, Sitharthan Kamalakaran, Monica Bodria, Edgar A Otto, Matthew G Sampson, Christopher E Gillies, Virginia Vega-Warner, Katarina Vukojevic, Igor Pediaditakis, Gabriel S Makar, Adele Mitrotti, Miguel Verbitsky, Jeremiah Martino, Qingxue Liu, Young-Ji Na, Vinicio Goj, Gianluigi Ardissino, Maddalena Gigante, Loreto Gesualdo, Magdalena Janezcko, Marcin Zaniew, Cathy Lee Mendelsohn, Shirlee Shril, Friedhelm Hildebrandt, Joanna A E van Wijk, Adela Arapovic, Marijan Saraga, Landino Allegri, Claudia Izzi, Francesco Scolari, Velibor Tasic, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna-Materna Kiryluk, Shrikant Mane, David B Goldstein, Richard P Lifton, Nicholas Katsanis, Erica E Davis, Ali G Gharavi
Renal agenesis and hypodysplasia (RHD) are major causes of pediatric chronic kidney disease and are highly genetically heterogeneous. We conducted whole-exome sequencing in 202 case subjects with RHD and identified diagnostic mutations in genes known to be associated with RHD in 7/202 case subjects. In an additional affected individual with RHD and a congenital heart defect, we found a homozygous loss-of-function (LOF) variant in SLIT3, recapitulating phenotypes reported with Slit3 inactivation in the mouse...
November 2, 2017: American Journal of Human Genetics
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