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https://www.readbyqxmd.com/read/29339962/three-new-pax2-gene-mutations-in-patients-with-papillorenal-syndrome
#1
Alberto Galvez-Ruiz, Anthony J Lehner, Alicia Galindo-Ferreiro, Patrik Schatz
Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an autosomal dominant disease characterised by the presence of congenital renal and optic nerve abnormalities associated with mutations of the PAX2 gene. In this article, the authors present four patients with PAPRS who are carriers of three new PAX2 mutations, as well as another patient with a possible non-pathogenic variant of the PAX2 gene. All patients were given a full neurophthalmological examination, and all patients underwent a genetic test for PAX2...
October 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29335391/renal-vascularization-anomalies-in-the-polish-population
#2
Henryk Sośnik, Katarzyna Sośnik
The aim of the study was to determine the incidence of renal venous system congenital anomalies in the Polish population. MATERIAL AND METHOD: Vascular kidney samples were investigated by means of preparations and X-ray contrasting. The study the group comprised 281 male and 269 female specimens. RESULTS: Congenital anomalies were diagnosed in 186 patients (33 8% of all cases), and they were more frequent in men than in women, albeit that difference was non-significant...
December 30, 2017: Polski Przeglad Chirurgiczny
https://www.readbyqxmd.com/read/29333814/morbidity-in-congenital-heart-surgery-in-a-public-hospital-in-argentina
#3
María Althabe, Ricardo Rodríguez R, María Balestrini, Alberto Charroqui, Mariela Krynski, Ana M Lenz, Mercedes Montonati, Guillermo Moreno, María L Pilan, Ricardo Magliola, Pablo García Delucis
OBJECTIVE: To describe the complications associated with heart surgery, compare them to a reference population, and identify mortality risk factors. PATIENTS AND METHODS: Retrospective and descriptive study. All patients who underwent surgery at Hospital Garrahan in the 2013-2015 period were included. Age, weight, procedure, mechanical ventilation, length of stay in days, morbidity, and course were recorded. Renal failure requiring dialysis, neurological deficit, permanent pacemaker, circulatory support, phrenic nerve or vocal cord palsy, reoperation, wound infection, chylothorax, and tracheotomy were considered morbidities...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#4
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29330844/bradykinin-mediates-the-association-of-collecting-duct-cells-to-form-migratory-colonies-through-b2-receptor-activation
#5
Edith Del Valle Guaytima, Yamila Romina Brandán, Nicolás Octavio Favale, Bruno Jaime Santacreu, Norma B Sterin-Speziale, María Gabriela Márquez
It is known that bradykinin (BK) B2 receptor (B2R) is expressed in the collecting duct (CD) cells of the newborn rat kidney, but little is known about its role during early postnatal life. Therefore, we hypothesize that BK could participate in the mechanisms that mediate CD formation during the postnatal renal development. Performing primary cultures, combined with biochemical, immunocytochemical, and time-lapse analysis, we studied the role of BK in CD cell behaviour isolated from renal papilla of neonatal rats...
January 13, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29325785/characteristics-and-outcomes-of-children-with-ductal-dependent-congenital-heart-disease-and-esophageal-atresia-tracheoesophageal-fistula-a-multi-institutional-analysis
#6
Kriti Puri, Shaine A Morris, Carlos M Mery, Yunfei Wang, Brady S Moffett, Jeffrey S Heinle, J Ruben Rodriguez, Lara S Shekerdemian, Antonio G Cabrera
BACKGROUND: Extracardiac birth defects are associated with worse outcomes in congenital heart disease (CHD). The impact of esophageal atresia/trachea-esophageal fistula (EA/TEF) on outcomes after surgery for ductal-dependent CHD is unknown. METHODS: Retrospective matched cohort study using the Pediatric Health Information System database from 07/2004 to 06/2015. Hospitalizations with ductal-dependent CHD and EA/TEF, undergoing CHD surgery were included as cases...
January 8, 2018: Surgery
https://www.readbyqxmd.com/read/29324920/technetium-99m-dimercaptosuccinic-acid-renal-scintigraphy-can-guide-clinical-management-in-congenital-hydronephrosis
#7
Biljana Bazić-Đorović, Marija Radulović, Marija Šišić, Ljiljana Jauković, Sanja Dugonjić, Dragan Pucar, Zoran Janković, Slobodanka Beatović, Milica Janković, Zoran Krstić, Boris Ajdinović
OBJECTIVE: The purpose of this study was to evaluate damage of the kidney with technetium-99m-dimercaptosuccinic acid (99mTc-DMSA) scintigraphy in children with congenital hydronephrosis (CH) and the influence of other postnatal associated diagnoses on abnormal 99mTc-DMSA findings. SUBJECTS AND METHODS: 99mTc-DMSA scintigraphy in 54 children (17 girls and 37 boys), aged from 2 months to 5 years (median 11 months) with 66 congenital hydronephrotic renal units (RU) (42 unilateral hydronephrosis-29 boys and 13 girls; 12 bilateral hydronephrosis-8 boys and 4 girls) was performed...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29324912/diuresis-renography-and-ultrasonography-in-children-with-antenatally-detected-hydronephrosis-can-support-diagnoses-and-suggest-related-surgery-treatment
#8
M Radulović, S Beatović, M Janković, Dragana Šobić-Šaranović, Vera Artiko, Boris Ajdinović
OBJECTIVE: Prenatal ultrasound (US) screening detects the hydronephrosis (HN)-dilatation of fetal renal collecting system in 1%-5% of all pregnancies. In most children, HN is detected by prenatal US screening between 18-20 gestational week. Pelvi- ureteric junction (PUJ) stenosis is the most common etiological factor of prenatal HN and requires postnatal follow-up. Diuresis renography plays important role in the follow-up by complementing morphological information obtained by US with the data about differential renal function (DRF) and drainage...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29321944/myelomeningocele-with-unilateral-right-renal-agenesis-a-case-report
#9
Hajime Maeda, Hayato Go, Jun Sakuma, Takashi Imamura, Maki Sato, Nobuo Momoi, Mitsuaki Hosoya
Congenital anomalies of the spine may occur with malformations of the central nervous, cardiovascular, gastrointestinal, respiratory, and genitourinary systems. This is a case of myelomeningocele with unilateral right renal agenesis in a newborn. The patient suffered complications of cerebrospinal fluid leak and meningitis, but was successfully treated and discharged on day 86. In this case, unilateral right renal agenesis represented a significant surgical risk because failure of the remaining kidney could result in renal failure...
January 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29318530/a-novel-heterozygous-gli2-mutation-in-a-patient-with-congenital-urethral-stricture-and-renal-hypoplasia-dysplasia-leading-to-end-stage-renal-failure
#10
Toshihiko Shirakawa, Yumiko Nakashima, Satoshi Watanabe, Sadatomo Harada, Mariko Kinoshita, Toshiharu Kihara, Yuko Hamasaki, Seiichiro Shishido, Koh-Ichiro Yoshiura, Hiroyuki Moriuchi, Sumito Dateki
Glioblastoma 2 (GLI2) is a mediator of Sonic hedgehog signaling pathway that plays an important role in development of the central nervous system and limbs. Heterozygous GLI2 mutations have been associated with postaxial polydactyly, various pituitary dysfunction, and holoprosencephaly-like phenotype. Herein, we report a Japanese boy who presented with isolated growth hormone deficiency with ectopic posterior pituitary, postaxial polydactyly, atrioventricular septal defect, intellectual disability and dysmorphic facial features including mid-facial hypoplasia...
January 9, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29314159/severe-fetal-hydronephrosis-the-added-value-of-associated-congenital-anomalies-of-the-kidneys-and-urinary-tract-cakut-in-the-prediction-of-postnatal-outcome
#11
Sharon Perlman, Lucia Roitman, Danny Lotan, Zvi Kivilevitch, Benjamin Dekel, Naomi Pode-Shakked, Ben Pode-Shakked, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To focus on fetuses diagnosed with severe hydronephrosis and correlate pre-natal sonographic characteristics with post-natal outcome. METHODS: Cases presenting prenatally with severe hydronephrosis (APRPD) >15 mm) were collected retrospectively over a period of 11 years and divided into two groups: (1) isolated hydronephrosis and (2) those associated with congenital anomalies of the kidney and urinary tract (CAKUT). RESULTS: 83 fetuses comprised the study group: 35 fetuses had isolated severe hydronephrosis and 48 had associated CAKUT...
January 5, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29304872/varicocele-due-to-renal-arteriovenous-malformation-mimicking-a-renal-tumor-a-case-report
#12
Peng-Chao Li, Jia-Yi Zhang, Yan-Yan Xiu, Sheng Liu, Jin-Guo Xia, Hai-Bin Shi, Ning-Hong Song
BACKGROUND: Renal arteriovenous malformation is an aberrant vascular connection between the renal artery and vein. Acquired renal arteriovenous malformation (arteriovenous fistulae) accounts for approximately 70% of renal arteriovenous abnormalities. Congenital renal arteriovenous malformation, relatively rare, can result in significant hematuria which may require arterial embolization or nephrectomy. CASE PRESENTATION: A 64-year-old Asian man presented to the Urology department in our hospital with gradual left scrotal swelling for 2 years...
January 5, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29300302/splicing-analysis-of-exonic-ocrl-mutations-causing-lowe-syndrome-or-dent-2-disease
#13
Lorena Suarez-Artiles, Ana Perdomo-Ramirez, Elena Ramos-Trujillo, Felix Claverie-Martin
Mutations in the OCRL gene are associated with both Lowe syndrome and Dent-2 disease. Patients with Lowe syndrome present congenital cataracts, mental disabilities and a renal proximal tubulopathy, whereas patients with Dent-2 disease exhibit similar proximal tubule dysfunction but only mild, or no additional clinical defects. It is not yet understood why some OCRL mutations cause the phenotype of Lowe syndrome, while others develop the milder phenotype of Dent-2 disease. Our goal was to gain new insights into the consequences of OCRL exonic mutations on pre-mRNA splicing...
January 4, 2018: Genes
https://www.readbyqxmd.com/read/29286563/etv6-ntrk3-in-congenital-mesoblastic-nephroma-a-report-of-the-siop-gpoh-nephroblastoma-study
#14
Christian Vokuhl, Nasenien Nourkami-Tutdibi, Rhoikos Furtwängler, Manfred Gessler, Norbert Graf, Ivo Leuschner
BACKGROUND: Congenital mesoblastic nephroma (MN) is a rare pediatric renal tumor representing approximately 5% of all pediatric renal tumors. Three different types of MN are distinguished histologically: classical, cellular, and mixed. A frequent genetic alteration is the translocation t(12;15) resulting in a fusion of the ETV6 gene on 12p13 and the NTRK3 gene on 15p15 that occurs almost exclusively in cellular MN. The aim of this study was to determine translocation status of a large cohort of MN with respect to tumor subtype and outcome...
December 29, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29276909/-management-of-patients-with-isolated-aortic-stenosis-considering-negative-prognostic-factors
#15
I G Nikitin, G E Gendlin, E I Emelina, A I Kovaleva
BACKGROUND: Aortic stenosis (AS) is the most common valve defect in developed countries; its prevalence increases with age of the population. The most frequent cause for isolated AS in adults is calcification of normal tricuspid or congenital bicuspid aortic valve (AV). The only effective treatment of AS is aortic valve replacement (AVR). Major negative prognostic factors include low LV ejection fraction (EF), age older than 70, female gender, and comorbidities such as renal dysfunction, chronic obstructive pulmonary disease, and neural disorders...
2017: Kardiologiia
https://www.readbyqxmd.com/read/29273201/hybrid-palliation-outcomes-after-the-comprehensive-stage-2-procedure
#16
Clifford L Cua, Patrick I McConnell, James M Meza, Kevin D Hill, Shuaiqi Zhang, Diane Hersey, Tara Karamlou, Jeffrey P Jacobs, Marshall L Jacobs, Mark Galantowicz
BACKGROUND: Comprehensive Stage 2 procedure (CS2) follows initial Hybrid Stage 1 palliation for patients with single ventricle physiology. Goal of this study was to describe CS2 outcomes and describe differences between survivors of CS2 (s-CS2) versus non-survivors (nons-CS2). METHODS: All patients in the Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) who underwent CS2 as index operation from 2010-2016 were included. Pre-operative, operative, and post-operative data were analyzed, stratified by operative mortality (in-hospital, or within 30 days of surgery), with univariate comparisons using a chi-square / Fisher exact test or Wilcoxon rank sum test...
December 19, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29273020/trends-in-cause-and-place-of-death-for-children-in-portugal-a-european-country-with-no-paediatric-palliative-care-during-1987-2011-a-population-based-study
#17
Ana Forjaz de Lacerda, Barbara Gomes
BACKGROUND: Children and adolescents dying from complex chronic conditions require paediatric palliative care. One aim of palliative care is to enable a home death if desired and well supported. However, there is little data to inform care, particularly from countries without paediatric palliative care, which constitute the majority worldwide. METHODS: This is an epidemiological study analysing death certificate data of decedents aged between 0 and 17 years in Portugal, a developed Western European country without recognised provision of paediatric palliative care, from 1987 to 2011...
December 22, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29260263/systematic-literature-review-on-the-incidence-and-prevalence-of-heart-failure-in-children-and-adolescents
#18
REVIEW
Robert E Shaddy, Aneesh Thomas George, Thomas Jaecklin, Eimear Nic Lochlainn, Lalit Thakur, Rumjhum Agrawal, Susan Solar-Yohay, Fabian Chen, Joseph W Rossano, Thomas Severin, Michael Burch
While the epidemiology of adult heart failure has been extensively researched, this systematic review addresses the less well characterized incidence and prevalence of pediatric HF. The search strategy used Cochrane methodology and identified 83 unique studies for inclusion. Studies were categorized according to whether the HF diagnosis was reported as primary (n = 10); associated with other cardiovascular diseases (CVDs) (n = 49); or associated with non-CVDs (n = 24). A narrative synthesis of the evidence is presented...
December 20, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/29258675/the-number-of-refusals-for-donor-organ-quality-does-not-impact-heart-transplant-outcomes-in-children
#19
Raheel Rizwan, Farhan Zafar, Roosevelt Bryant, James S Tweddell, Angela Lorts, Clifford Chin, David L Morales
BACKGROUND: Waitlist mortality is more than 12% for pediatric heart transplantation, with strikingly high rates of organ refusal, many of which are due to donor quality. However, some centers use these organs despite refusals by other centers for donor quality. We hypothesize that the number of refusals for donor quality (RDQ) does not affect pediatric heart transplantation outcomes. METHODS: Pediatric heart transplants from 2000 to 2015 were identified using the United Network for Organ Sharing database and were matched against the potential transplant recipients dataset with donor refusal codes...
December 16, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29250692/esophageal-atresia-with-distal-fistula-unusual-case-series-considerations-related-to-epidemiological-aspects-malformative-associations-and-prenatal-diagnosis
#20
Maria Livia Ognean, Laura Corina Zgârcea, Laura Bălănescu, Oana Boantă, Raluca Elena Dumitra, Florin Grosu, Dan Georgian Bratu, Adrian Gheorghe Boicean, Liliana Coldea, Radu Chicea
BACKGROUND: Esophageal atresia (EA) is the most frequent and severe congenital anomaly of the esophagus, occurring in 1:2500-1:4500 live births. Five types of EA have been described, EA with tracheoesophageal fistula (TEF) being the most frequent. AIM: The aim of this paper is to evaluate epidemiological aspects, malformative associations, and prenatal diagnosis in an unusual case series of EA with distal TEF. CASE PRESENTATIONS: The authors are analyzing a series of seven cases of EA with distal TEF...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
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