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https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#1
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28339907/o-linked-%C3%AE-n-acetylglucosamine-modification-of-proteins-is-essential-for-foot-process-maturation-and-survival-in-podocytes
#2
Shinya Ono, Shinji Kume, Mako Yasuda-Yamahara, Kosuke Yamahara, Naoko Takeda, Masami Chin-Kanasaki, Hisazumi Araki, Osamu Sekine, Hideki Yokoi, Masashi Mukoyama, Takashi Uzu, Shin-Ichi Araki, Hiroshi Maegawa
Background.: O-linked β- N -acetylglucosamine modification O-GlcNAcylation) is a post-translational modification of intracellular proteins, serving as a nutrient sensor. Growing evidence has demonstrated its physiological and pathological importance in various mammalian tissues. This study examined the physiological role of O-GlcNAcylation in podocyte function and development. Methods.: O-GlcNAc transferase (Ogt) is a critical enzyme for O-GlcNAcylation and resides on the X chromosome...
February 27, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339567/role-of-biomechanical-forces-in-hyperfiltration-mediated-glomerular-injury-in-congenital-anomalies-of-the-kidney-and-urinary-tract
#3
Tarak Srivastava, Ganesh Thiagarajan, Uri S Alon, Ram Sharma, Ashraf El-Meanawy, Ellen T McCarthy, Virginia J Savin, Mukut Sharma
Congenital anomalies of the kidney and urinary tract (CAKUT) including solitary kidney constitute the main cause of progressive chronic kidney disease (CKD) in children. Children born with CAKUT develop signs of CKD only during adolescence and do not respond to renin-angiotensin-aldosterone system blockers. Early cellular changes underlying CKD progression to end-stage renal disease by early adulthood are not well understood. The mechanism of maladaptive hyperfiltration that occurs from loss of functional nephrons, including solitary kidney, is not clear...
January 17, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28331377/management-of-systemic-lupus-erythematosus-during-pregnancy-challenges-and-solutions
#4
REVIEW
Caroline L Knight, Catherine Nelson-Piercy
Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease predominantly affecting women, particularly those of childbearing age. SLE provides challenges in the prepregnancy, antenatal, intrapartum, and postpartum periods for these women, and for the medical, obstetric, and midwifery teams who provide their care. As with many medical conditions in pregnancy, the best maternal and fetal-neonatal outcomes are obtained with a planned pregnancy and a cohesive multidisciplinary approach. Effective prepregnancy risk assessment and counseling includes exploration of factors for poor pregnancy outcome, discussion of risks, and appropriate planning for pregnancy, with consideration of discussion of relative contraindications to pregnancy...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28329459/nineteen-years-of-adult-congenital-heart-surgery-in-a-single-center
#5
Madurra Perinpanayagam, Signe H Larsen, Kristian Emmertsen, Marianne B Møller, Vibeke E Hjortdal
BACKGROUND: Adults with congenital heart disease are a growing population. We describe surgical interventions, short- and long-term mortality and morbidity, and risk factors for adverse events in a population-based cohort. METHODS: Patients over or equal to 18 years with congenital heart disease who underwent cardiac surgery at Aarhus University Hospital, Denmark, from 1994 to 2012 were included in the study. Diagnoses, surgical procedures, postoperative complications, and survival were identified in hospital databases, medical records, and the Danish Civil Registration System...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#6
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28322432/bilateral-congenital-deafness-what-investigations-should-be-performed
#7
Nicolas Gürtler, Claudine Gysin, Nevenka Schmid, Claudia Pieren, Mattheus Vischer, Stefan Schumacher, Peter Oppermann, Daniel Leuba, Dorothée Veraguth
BACKGROUND: The introduction of newborn hearing screening has led to earlier identification of children with congenital sensorineural hearing loss (SNHL). Aetiological clarification offers several benefits. There is currently a lack of agreement on which examinations should be recommended. OBJECTIVE: Descriptive review of the literature reporting investigations performed to establish the aetiology of congenital SNHL and comparison of the management policy in Swiss referral centres...
March 21, 2017: Swiss Medical Weekly
https://www.readbyqxmd.com/read/28314972/-rare-diseases-with-clinical-relevance-the-silver-russell-syndrome
#8
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/28304246/a-mouse-model-for-human-unstable-hemoglobin-santa-ana
#9
Samantha I Miyashiro, Silvia M G Massironi, Claudia M C Mori, Carolina C Cruz, Mitika K Hagiwara, Paulo C Maiorka
In the present study, we described the phenotype, histologic morphology, and molecular etiology of a mouse model of unstable hemoglobin Santa Ana. Hematologic evaluation of anemic mice (Anem/+) discovered after N-ethyl-N-nitrosourea mutagenesis revealed moderate anemia with intense reticulocytosis and polychromasia, followed by anisocytosis, macrocytosis, hypochromia, and intraerythrocytic inclusion and Heinz bodies. The mice also demonstrated hemoglobinuria, bilirubinemia, and erythrocytic populations with differing resistance to osmotic lysis...
December 1, 2016: Comparative Medicine
https://www.readbyqxmd.com/read/28303733/bi-parametric-magnetic-resonance-imaging-applied-to-obstetrics
#10
Lucia Manganaro, Valeria Vinci, Antonella Giancotti, Sandro Gerli, Denis A Cozzi, Teresa Pusiol, Michele Scialpi, Luca Roncati
Foetal magnetic resonance imaging (MRI) plays an increasingly important role in the diagnosis of foetal abnormalities. Over the years, we have successfully applied bi-parametric MRI (bp-MRI) to the following obstetric conditions: (1) neurologic vascular diseases; (2) assessment of lung parenchyma maturation; (3) renal pathologies, such as polycystic kidney, suspected renal infarction, unilateral or bilateral renal agenesis; (4) placental pathologies, as twin-twin transfusion syndrome or placenta accreta; (5) benignant and malignant congenital tumours or cysts of the liver, such as haemangioendothelioma, hepatoblastoma or metastatic neuroblastoma, of the kidney (e...
March 17, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28302079/near-infrared-spectroscopy-as-a-predictor-of-clinical-deterioration-a-case-report-of-two-infants-with-duct-dependent-congenital-heart-disease
#11
Mirthe J Mebius, Gideon J du Marchie Sarvaas, Diana W Wolthuis, Beatrijs Bartelds, Martin C J Kneyber, Arend F Bos, Elisabeth M W Kooi
BACKGROUND: Some infants with congenital heart disease are at risk of in-hospital cardiac arrest. To better foresee cardiac arrest in infants with congenital heart disease, it might be useful to continuously assess end-organ perfusion. Near-infrared spectroscopy is a non-invasive method to continuously assess multisite regional tissue oxygen saturation. CASE PRESENTATION: We report on two infants with duct-dependent congenital heart disease who demonstrated a gradual change in cerebral and/or renal tissue oxygen saturation before cardiopulmonary resuscitation was required...
March 16, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#12
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28298663/lean-flow-optimizing-cardiopulmonary-bypass-equipment-and-flow-for-obese-patients-a-technique-article
#13
Joshua M Blessing, Jeffrey B Riley
The goal of this chart review was to investigate the use of down-sized cardiopulmonary bypass (CPB) circuits for obese patients. The effects of transitioning from larger to smaller oxygenators, reservoirs, and arteriovenous tubing loops were evaluated through a retrospective review of 2,816 adult non-congenital procedure perfusion records. This technique report and case series is a continuation of our original prescriptive CPB circuit quality improvement project. An algorithm was derived to adjust body surface area (BSA) to lower body mass index (BMI) to provide down-sized extracorporeal circuit components capable of meeting the metabolic needs of the patient...
March 2017: Journal of Extra-corporeal Technology
https://www.readbyqxmd.com/read/28291300/-possible-relation-between-antenatal-venlafaxine-use-and-vacterl-association-in-a-newborn-a-case-report
#14
Muammer Özgür Çevik, Mustafa Çelik, İbrahim Hakan Bucak, Behice Han Almış, Mehmet Turğut
Major depressive disorder is common during antenatal period and many women are prescribed antidepressant drugs despite no antidepressant can be regarded as definitely safe in pregnancy. Previous studies have suggested links between gestational use of selective serotonin reuptake inhibitors (SSRI) or serotonin and norepinephrine reuptake inhibitors (SNRI) and certain birth defects. VACTERL association is a rare group of congenital malformations which were observed to occur together more often than would be expected by chance...
2017: Türk Psikiyatri Dergisi, Turkish Journal of Psychiatry
https://www.readbyqxmd.com/read/28287880/does-the-serum-uric-acid-level-have-any-relation-to-arterial-stiffness-or-blood-pressure-in-adults-with-congenital-renal-agenesis-and-or-hypoplasia
#15
Raziye Yazici, İbrahim Guney, Lutfullah Altintepe, Mehmet Yazici
BACKGROUND: The relationship between serum uric acid and arterial stiffness or blood pressure is not clear. The serum uric acid level and its association with cardiovascular risk is not well known in patients with reduced renal mass. We aimed to investigate the relation between serum uric acid levels and arterial stiffness and also blood pressure in patients with congenital renal agenesis and/or hypoplasia. MATERIAL AND METHODS: In this single center, cross-sectional study, a total of 55 patients (39 (% 70...
2017: Clinical and Experimental Hypertension: CHE
https://www.readbyqxmd.com/read/28282819/management-of-mixed-type-congenital-mesoblastic-nephroma-case-series-and-review-of-the-literature
#16
J Daniel, A Ruzic, J Dalland, V Miller, M Hanna
Congenital mesoblastic nephroma (CMN) is the most common renal tumor of infancy; however, it occurs infrequently with an incidence of 1 : 125,000. The cellular and classical variants are the most common subtypes of tumors, with a mixed variant occurring infrequently. We describe two cases of mixed variant CMN, which presented within days of each other differing in their clinical behavior. The first case followed a typical course, previously described in the literature, while the other deviated significantly...
March 4, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28276295/complete-bilateral-agenesis-of-the-diaphragm
#17
Mudher Al-Adnani, Andreas Marnerides
Bilateral agenesis of the diaphragm is a very rare congenital diaphragmatic defect. Bilateral congenital diaphragmatic hernia (CDH) is much more frequently associated with other anomalies compared with unilateral CDH (70% vs 30%-40%). These include cardiovascular, respiratory (other than lung hypoplasia), gastrointestinal, renal, and genital malformations. We report a case of complete bilateral agenesis of the diaphragm associated with a horseshoe kidney and an imperforate anus. These additional malformations have not previously been reported in association with complete bilateral agenesis of the diaphragm...
January 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28273057/the-association-of-accessory-auricular-tissue-with-solid-organ-abnormalities-and-its-effect-on-auditory-and-vestibular-function
#18
Hillary E Jenny, Benjamin B Massenburg, E Hope Weissler, Peter J Taub
BACKGROUND: Accessory auricular tissue is a common congenital anomaly ranging from an accessory skin appendage to a separate pinna. The association between auditory or vestibular dysfunction and accessory auricular tissue is debated, and little is known about related solid organ abnormalities. We examine the prevalence of accessory auricular tissue, its association between solid organ abnormalities and auditory/vestibular dysfunction, and its management. METHODS: A retrospective cohort study was performed using the 2000 to 2012 HCUP kids' inpatient database...
April 2017: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/28272662/fibromuscular-dysplasia-of-the-coronary-arteries-a-case-report-and-review-of-the-literature
#19
Julia Kuzyk, Oksana Boiko, Taras Stetsko
Fibromuscular dysplasia is a nonatherosclerotic and non-inflammatory vascular disease with primary lesion of renal and internal carotid arteries. We present a neonatal case of fibromuscular dysplasia who died on the second day of life. The newborn suffered from fibromuscular dysplasia of the coronary arteries and a congenital heart defect. The interesting feature of this case was the formation of aneurysms of the coronary arteries with pulmonary atresia. This case demonstrates a casuistically rare form of association between fibromuscular dysplasia of the coronary arteries and pulmonary artery atresia...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28270645/kidney-function-in-patients-with-different-variants-of-beta-thalassemia
#20
Azar Nickavar, Azadeh Qmarsi, Shahla Ansari, Elham Zarei
INTRODUCTION: Renal involvement is a rare complication of β-thalassemia. Both tubular and glomerular dysfunction might occur in these patients. The aim of this study was to evaluate and compare kidney function in the major, intermedia, and minor variants of β-thalassemia. MATERIALS AND METHODS: Renal tubular and glomerular function of 72 patients with β-thalassemia (25 major, 23 intermedia, and 24 minor) were evaluated. Patients older than 40 years and those with chronic kidney disease, diabetes mellitus, congestive heart failure, associated infections, congenital anomalies of the kidney and urinary tract were excluded...
March 2017: Iranian Journal of Kidney Diseases
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