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https://www.readbyqxmd.com/read/28737145/congenital-hepatic-fibrosis-with-polycystic-kidney-disease-an-unusual-cause-of-neonatal-cholestasis
#1
Vani Bharani, G Vybhav Venkatesh, Uma Nahar Saikia, B R Thapa
Congenital hepatic fibrosis is characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. Typical presentation of congenital hepatic fibrosis is in the form of portal hypertension, in adolescents and young adults. We present an unusual case of neonatal cholestasis with rapid deterioration within first 4 months of life, who was diagnosed to have congenital hepatic fibrosis with polycystic kidney disease on autopsy.
July 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/28722320/congenital-unilateral-renal-agenesis-prevalence-prenatal-diagnosis-associated-anomalies-data-from-two-birth-defect-registries
#2
Hélène Laurichesse Delmas, Monique Kohler, Bérénice Doray, Didier Lémery, Christine Francannet, Jocelyn Quistrebert, Cécile Marie, Isabelle Perthus
BACKGROUND: The different mechanisms leading to a solitary kidney should be differentiated because the long-term outcome might be different. The fetal period is the best moment to make a true diagnosis of congenital unilateral renal agenesis (URA). The objective was to determine the prevalence of URA at birth. The secondary objectives were to describe the evolution of sensitivity of prenatal diagnosis over time and the different forms of URA (isolated and associated with other malformations) detected up to 1 year...
July 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28722276/identification-and-functional-analysis-of-an-adamtsl1-variant-associated-with-a-complex-phenotype-including-congenital-glaucoma-craniofacial-and-other-systemic-features-in-a-three-generation-human-pedigree
#3
Kathryn Hendee, Lauren Weiping Wang, Linda M Reis, Gregory M Rice, Suneel S Apte, Elena V Semina
Developmental glaucoma can occur as an isolated or syndromic condition and is genetically heterogeneous. We describe a three-generation family affected with developmental glaucoma, myopia, and/or retinal defects associated with variable craniofacial/dental, auditory, brain, renal, and limb anomalies. Whole exome sequencing identified a heterozygous c.124T> C, p.(Trp42Arg) allele in ADAMTSL1; co-segregation analysis confirmed the presence of this allele in four affected family members. The mutation affects a highly conserved residue and is strongly predicted to have a deleterious effect on protein function...
July 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28722118/at2-r-deficiency-mediated-podocyte-loss-via-activation-of-ectopic-hedgehog-interacting-protein-hhip-gene-expression
#4
Min-Chun Liao, Xin-Ping Zhao, Shiao-Ying Chang, Chao-Sheng Lo, Isabelle Chenier, Tomoko Takano, Julie R Ingelfinger, Shao-Ling Zhang
Angiotensin II type 2 receptor (AT2 R) deficiency in AT2 R knockout (KO) mice has been linked to congenital abnormalities of the kidney and urinary tract; however, the mechanisms by which this occurs are poorly understood. In this study, we examined whether AT2 R deficiency impaired glomerulogenesis and mediated podocyte loss/dysfunction in vivo and in vitro. Nephrin-cyan fluorescent protein (CFP)-transgenic (Tg) and Nephrin/AT2 RKO mice were used to assess glomerulogenesis, while wild-type and AT2 RKO mice were used to evaluate maturation of podocyte morphology/function...
July 19, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28712962/fenestrated-endograft-as-a-new-perspective-for-the-treatment-of-infra-renal-abdominal-aortic-aneurysm-with-a-congenital-pelvic-kidney-a-case-report-and-review-of-literature
#5
Barun Majumder, Anisha H Parera, Neil Browning, Mark MacGregor, Alex Chapman
The coexistence of Abdominal Aortic Aneurysm (AAA) and Congenital Pelvic Kidney (CPK) is infrequent. Various treatment modalities have been reported in literature for treatment of the above condition. We report a complete endovascular modality for the treatment of this association, especially for high-risk patients. Only one such treatment has been reported before. Compared to this previously reported case, we would like to share our experience with additional prototype testing, prior to surgery which provided us with more detailed information about the planning and deployment of the branched endograft...
July 13, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28712168/justification-for-re-look-cystoscopy-after-posterior-urethral-valve-fulguration
#6
Gul Nawaz, Ijaz Hussain, Shujah Muhammad, Muhammad Imran Jamil, Asad Ur Rehman, Nadeem Iqbal, Saeed Akhter
BACKGROUND: Posterior urethral valve (PUV) is life-threatening congenital anomaly of the urinary tract that results in vesicoureteric reflux, recurrent UTI, voiding dysfunction and renal insufficiency if not treat timely. Endoscopic ablation of posterior urethral valves using cold knife or laser is the current gold standard therapy. Many urologists go for repeat cystoscopy to see residual valve or stricture while others repeat VCUG to measure the posterior to anterior urethral ratio for residual obstruction...
January 2017: Journal of Ayub Medical College, Abbottabad: JAMC
https://www.readbyqxmd.com/read/28711074/hereditary-renal-diseases
#7
Lakshmi Mehta, Belinda Jim
Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract...
July 2017: Seminars in Nephrology
https://www.readbyqxmd.com/read/28709919/morbidity-after-cardiac-surgery-in-patients-with-adult-congenital-heart-disease-in-comparison-with-acquired-disease
#8
Dimos Karangelis, Amine Mazine, Sreekanth Narsupalli, Shamarli Mendis, Gruschen Veldtman, Nicolas Nikolaidis
BACKGROUND: Due to the advancements in congenital cardiac surgery and interventional cardiology in the last five decades, more than 85% of congenital heart patients now survive to adulthood. METHODS: This retrospective study included 135 Adult Congenital Heart Disease (ACHD) patients, who had cardiac surgery at Southampton General Hospital over three consecutive years. We also included 42 patients with a structurally normal heart who had cardiac surgery for acquired cardiac conditions as a control group...
June 28, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28706864/surgical-outcomes-of-isolated-tricuspid-valve-procedures-repair-versus-replacement
#9
Julius I Ejiofor, Robert C Neely, Maroun Yammine, Siobhan McGurk, Tsuyoshi Kaneko, Marzia Leacche, Lawrence H Cohn, Prem S Shekar
BACKGROUND: Isolated tricuspid valve (ITV) operations are infrequent and the decision to operate is controversial. We report a series of ITV operations to outline the current disease status requiring this uncommon procedure with an emphasis on the results of tricuspid valve repair (TVr) versus replacement (TVR). METHODS: Using our prospective cardiac surgery database, 57 patients who underwent ITV operations between 01/02-03/14 were identified. Median follow up time was 3...
May 2017: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/28706270/comprehensive-multi-dimensional-mri-for-the-simultaneous-assessment-of-cardiopulmonary-anatomy-and-physiology
#10
Joseph Y Cheng, Tao Zhang, Marcus T Alley, Martin Uecker, Michael Lustig, John M Pauly, Shreyas S Vasanawala
Diagnostic testing often assesses the cardiovascular or respiratory systems in isolation, ignoring the major pathophysiologic interactions between the systems in many diseases. When both systems are assessed currently, multiple modalities are utilized in costly fashion with burdensome logistics and decreased accessibility. Thus, we have developed a new acquisition and reconstruction paradigm using the flexibility of MRI to enable a comprehensive exam from a single 5-15 min scan. We constructed a compressive-sensing approach to pseudo-randomly acquire highly subsampled, multi-dimensionally-encoded and time-stamped data from which we reconstruct volumetric cardiac and respiratory motion phases, contrast-agent dynamics, and blood flow velocity fields...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28702053/etiology-of-hypopituitarism-in-adult-patients-the-experience-of-a-single-center-database-in-the-serbian-population
#11
M Doknić, S Pekić, D Miljić, I Soldatović, V Popović, M Stojanović, M Petakov
There are only a few published studies related to the population-based etiology of hypopituitarism. New risks for developing hypopituitarism have been recognized in the last 10 years. Aim. To present data regarding the etiology of hypopituitarism collected in a tertiary center over the last decade. This is a cross-sectional database study. Patients and Methods. We included 512 patients (pts) with hypopituitarism, with a mean age of 45.9 ± 1.7 yrs (range: 18-82; male: 57.9%). Results. Nonfunctional pituitary adenomas were presented in 205 pts (40...
2017: International Journal of Endocrinology
https://www.readbyqxmd.com/read/28700489/the-effect-of-intraoperative-dexmedetomidine-on-acute-kidney-injury-after-pediatric-congenital-heart-surgery-a-prospective-randomized-trial
#12
RANDOMIZED CONTROLLED TRIAL
Youn Yi Jo, Ji Young Kim, Ji Yeon Lee, Chang Hu Choi, Young Jin Chang, Hyun Jeong Kwak
BACKGROUND: Dexmedetomidine has been reported to have a renal protective effect after adult open heart surgery. The authors hypothesized that intraoperative infusion of dexmedetomidine would attenuate the decrease in renal function after pediatric open heart surgery. METHODS: Twenty-nine pediatric patients (1-6 years) scheduled for atrial or ventricular septal defect repair were randomly assigned to receive either continuous infusion of normal saline (control group, n = 14) or dexmedetomidine (a bolus dose of 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28699323/intra-procedural-continuous-dialysis-to-facilitate-interventional-catheterization-in-pediatric-patients-with-severe-renal-failure
#13
Angeline D Opina, Athar M Qureshi, Eileen Brewer, Ewa Elenberg, Sarah Swartz, Mini Michael, Henri Justino
BACKGROUND: Interventional catheterization procedures may be needed for patients with severe renal failure who are dependent on dialysis. To avoid the risk of fluid overload and electrolyte derangement during complex procedures in this oliguric/anuric patient population, we performed intra-procedural dialysis, either continuous renal replacement therapy (CRRT) or continous cycling peritoneal dialysis (CCPD). METHODS: We performed a retrospective review of a cohort of pediatric patients, ages 0-18 years, with dialysis-dependent renal failure who received CRRT or CCPD during catheterization procedures from January 2013 to March 2016...
July 12, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28699114/reversible-hypokalemia-and-bartter-like-syndrome-during-prolonged-systemic-therapy-with-colistimethate-sodium-in-an-adult-patient
#14
Tarek Kamal Eldin, Grazia Tosone, Alfredo Capuano, Raffaele Orlando
We present the case of a 58-year-old woman who developed hypokalaemia and metabolic alkalosis 2 weeks after therapy with colistimethate sodium for the treatment of chronic lower limb ulcer infection by extensively drug-resistant (XDR) Pseudomonas aeruginosa. The metabolic changes observed resembled Bartter syndrome, a group of congenital disorders affecting the distal segments of the renal tubules. The metabolic abnormalities reversed spontaneously 6 days after drug discontinuation. Acquired forms of Bartter syndrome have been reported during courses of antibiotic therapy; however, to our knowledge, this is the first documented case associated with colistimethate therapy in an adult...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/28693936/sirenomelia-associated-with-discoid-adrenal-and-lumbar-meningocoele-an-autopsy-report
#15
Nelofar Islam, Bappa Mandal, Ram Narayan Das, Goutam Bera, Suchandra Mukherjee, Uttara Chatterjee
Mermaid syndrome or Sirenomelia is a rare congenital deformity in which the legs are fused and bears resemblance to mermaid's tail. It carries a poor prognosis, due to associated urogenital and gastrointestinal abnormalities. An early antenatal diagnosis using Magnetic Resonance Imaging (MRI) can help in termination of pregnancy. Embryologically, it is considered as the extreme form of caudal regression syndrome due to the persistence of vitelline artery. Here, we report a case of Sirenomelia associated with bilateral renal agenesis along with the rare findings of discoid adrenal, lumbar meningocoele and abnormalities of the hand...
June 17, 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28689649/epispadias-repair-with-tunica-vaginalis-flap
#16
R S Zee, J H Makari, Fernando Ferrer, C D A Herndon
INTRODUCTION: Primary epispadias is a rare congenital malformation that afflicts about 1 in 80,000 children. The surgical repair, originally described by Cantwell over 100 years ago, is fundamentally sound and incorporates several important steps to achieve an optimal result. METHODS: A 9-month-old male with penopubic epispadias presented for surgical repair. Pre-operative imaging included a normal renal ultrasound and voiding cystourethrogram that demonstrated a moderate-sized bladder, partially competent bladder neck, and no vesicoureteral reflux...
June 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/28688027/pharmacokinetics-of-fentanyl-and-its-derivatives-in-children-a-comprehensive-review
#17
REVIEW
Victoria C Ziesenitz, Janelle D Vaughns, Gilbert Koch, Gerd Mikus, Johannes N van den Anker
Fentanyl and its derivatives sufentanil, alfentanil, and remifentanil are potent opioids. A comprehensive review of the use of fentanyl and its derivatives in the pediatric population was performed using the National Library of Medicine PubMed. Studies were included if they contained original pharmacokinetic parameters or models using established routes of administration in patients younger than 18 years of age. Of 372 retrieved articles, 44 eligible pharmacokinetic studies contained data of 821 patients younger than 18 years of age, including more than 46 preterm infants, 64 full-term neonates, 115 infants/toddlers, 188 children, and 28 adolescents...
July 7, 2017: Clinical Pharmacokinetics
https://www.readbyqxmd.com/read/28685101/end-stage-kidney-failure-in-oman-an-analysis-of-registry-data-with-an-emphasis-on-congenital-and-inherited-renal-diseases
#18
Intisar Al Alawi, Issa Al Salmi, Adhra Al Mawali, Yacoub Al Maimani, John A Sayer
Globally, end-stage kidney disease (ESKD) is a huge burden on health care systems. The aims of this study were to perform a comprehensive epidemiological and etiological report of ESKD patients commencing RRT in Oman with an emphasis on genetic causes and inherited kidney disease. All newly registered Omani patients with ESKD commencing RRT from 2001 until 2015 (n = 2,922) were analysed using the RRT register in Oman. All potentially genetic or inherited causes of ESKD were reviewed. In Oman, ESKD is more prevalent in males (57...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28684073/craniofacial-and-extracraniofacial-anomalies-in-craniofacial-macrosomia-a-multicenter-study-of-755-patients
#19
Cornelia J J M Caron, Britt I Pluijmers, Eppo B Wolvius, Caspar W N Looman, Neil Bulstrode, Robert D Evans, Peter Ayliffe, John B Mulliken, David Dunaway, Bonnie Padwa, Maarten J Koudstaal
PURPOSE: Craniofacial microsomia (CFM) is a congenital malformation of structures derived from the first and second pharyngeal arches leading to underdevelopment of the face. However, besides the craniofacial underdevelopment, extracraniofacial anomalies including cardiac, renal and skeletal malformation have been described. The aim of this study is to analyse a large population of patients with regard to demographics, typical phenotypes including craniofacial and extracraniofacial anomalies, and the correlations between the different variables of this condition...
June 8, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28683731/nephron-development-and-extrarenal-features-in-a-child-with-congenital-nephrotic-syndrome-caused-by-null-lamb2-mutations
#20
Jiro Kino, Hiroyasu Tsukaguchi, Takahisa Kimata, Huan Thanh Nguyen, Yorika Nakano, Noriko Miyake, Naomichi Matsumoto, Kazunari Kaneko
BACKGROUND: Congenital nephrotic syndrome (CNS) is a rare disorder caused by various structural and developmental defects of glomeruli. It occurs typically as an isolated kidney disorder but associates sometimes with other systemic, extrarenal manifestations. CASE PRESENTATIONS: An infant presented with severe CNS, which progressed rapidly to renal failure at age of 3 months and death at 27 months. The clinical phenotypes and genetic causes were studied, including the renal pathology at autopsy...
July 6, 2017: BMC Nephrology
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