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https://www.readbyqxmd.com/read/27920851/zinner-syndrome-a-rare-developmental-anomaly-of-the-mesonephric-duct-diagnosed-on-magnetic-resonance-imaging
#1
Shibani Mehra, Rajeev Ranjan, Umesh Chandra Garga
Developmental anomalies of the urogenital tract are rare but often encountered. Zinner's syndrome is a rare congenital abnormality of mesonephric (Wolffian) duct consisting of unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction due to developmental arrest in early embryogenesis affecting the caudal end of Mullerian duct and only approximately a 100 cases have been reported so far. Radiologic modalities such as intravenous pyelography, ultrasonography, vasovesiculography, contrast enhanced computed tomography, and magnetic resonance imaging are all helpful in diagnosis of this unusual entity...
December 2016: Radiology case reports
https://www.readbyqxmd.com/read/27905212/multicystic-seminal-vesicle-with-ipsilateral-renal-agenesis-two-cases-of-zinner-syndrome
#2
Pablo Naval-Baudin, Elena Carreño García, Ana Sanchez Marquez, Joana Valcárcel José, Natalia M Romero
The association of ipsilateral renal agenesis and cystic seminal vesicle is a rare congenital syndrome described by Zinner in 1914. The cases of two patients with this syndrome are presented, one of them associated with infertility, the other with cryptorchidism and testicular pain. A brief review of the literature is undertaken, regarding the main clinical and imaging implications, and the developmental anomalies that are involved in this unusual congenital anomaly are analyzed.
December 1, 2016: Scandinavian Journal of Urology
https://www.readbyqxmd.com/read/27896167/imperforate-anus-with-jejunal-atresia-complicated-by-intestinal-volvulus-a-case-report
#3
Hae Soo Joung, Alexandra Leon Guerrero, Sandra Tomita, Keith A Kuenzler
Anorectal malformations (ARMs) commonly co-occur with other congenital anomalies, particularly VACTERL (vertebral, anorectal, cardiac, tracheal, esophageal, renal, limb, and duodenal) associations. However, this collection of associations is not comprehensive, and other concurrent anomalies may exist that can be missed during the standard work-up of patients with ARMs. We present a rare case of a neonate with a low ARM with concurrent jejuno-ileal atresia that was diagnosed after the correction of the ARM when the patient developed segmental volvulus...
October 2016: Journal of Neonatal Surgery
https://www.readbyqxmd.com/read/27895945/congenital-renal-fusion-and-ectopia-in-the-trauma-patient
#4
Andrew A Rosenthal, Jordan J Ditchek, Seong K Lee, Rafael Sanchez, Chauniqua Kiffin, Dafney L Davare, Eddy H Carrillo
We present two separate cases of young male patients with congenital kidney anomalies (horseshoe and crossed fused renal ectopia) identified following blunt abdominal trauma. Despite being rare, ectopic and fusion anomalies of the kidneys are occasionally noted in a trauma patient during imaging or upon exploration of the abdomen. Incidental renal findings may influence the management of traumatic injuries to preserve and protect the patient's renal function. Renal anomalies may be asymptomatic or present with hematuria, flank or abdominal pain, hypotension, or shock, even following minor blunt trauma or low velocity impact...
2016: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/27891407/successful-pregnancy-outcome-in-a-patient-with-solitary-kidney-affected-by-angiomyolipoma-a-rare-case
#5
Vineet Vashistha Mishra, Kavita Mistry, Sakshi Nanda, Sumesh Choudhary, Khushali Gandhi
Renal angiomyolipoma is a rare benign tumour and its occurrence during pregnancy is even rare. It is usually diagnosed incidentally. It can increase in size during pregnancy and can present acutely as rupture with retroperitoneal haemorrhage, mechanism of which is still unclear. We present a case of successful pregnancy outcome in a patient with congenital solitary kidney affected by angiomyolipoma, diagnosed incidentally at 19 years of age. The patient had conceived twice. Her antenatal and post partum period was uneventful both the times...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27890687/revisiting-sports-precautions-in-children-with-solitary-kidneys-and-cakut-congenital-anomalies-of-the-kidney-and-urinary-tract
#6
REVIEW
Dimitri Papagiannopoulos, Edward Gong
This review article explores sports and recreational precautions in children with solitary kidneys. In 2001, the American Academy of Pediatrics published recommendations for activity in children with medical conditions. Those with solitary kidneys were graded a "qualified yes": no restriction in non-contact sports, and individual assessment for limited-contact, contact, and collision sports. Recent trauma data suggests that classification according to degree of contact is inaccurate. We propose an updated, data-driven classification of sports/recreation according to risk of high-grade renal trauma or loss of renal unit...
November 24, 2016: Urology
https://www.readbyqxmd.com/read/27889221/the-swedish-infant-high-grade-reflux-trial-study-presentation-and-vesicoureteral-reflux-outcome
#7
Josefin Nordenström, Gundela Holmdahl, Per Brandström, Rune Sixt, Eira Stokland, Ulla Sillén, Sofia Sjöström
INTRODUCTION: High-grade vesicoureteral reflux (VUR) in infants is associated with congenital renal abnormalities, recurrent UTI, and bladder dysfunction. Endoscopic treatment (ET) is a well-established method in children with low to moderate reflux grades, but there is a lack of randomised controlled trials regarding the use of ET versus continuous antibiotic prophylaxis in infants with high-grade VUR. OBJECTIVE: This study aimed to determine whether high-grade VUR in infants can be treated with endoscopic injection and whether ET is superior to antibiotic prophylaxis in the treatment of VUR...
October 24, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27867342/the-family-of-crumbs-genes-and-human-disease
#8
REVIEW
Anne M Slavotinek
The family of vertebrate Crumbs proteins, homologous to Drosophila Crumbs (Crb), share large extracellular domains with epidermal growth factor-like repeats and laminin-globular domains, a single transmembrane domain, and a short intracellular C-terminus containing a single membrane proximal 4.1/ezrin/radixin/moesin-binding domain and PSD-95/Discs large/ZO-1-binding motifs. There are 3 Crb genes in humans - Crumbs homolog-1 (CRB1), Crumbs homolog-2 (CRB2), and Crumbs homolog-3 (CRB3). Bilallelic loss-of-function mutations in CRB1 cause visual impairment, with Leber's congenital amaurosis and retinitis pigmentosa, whereas CRB2 mutations are associated with raised maternal serum and amniotic fluid alpha feto-protein levels, ventriculomegaly/hydrocephalus, and renal disease, ranging from focal segmental glomerulosclerosis to congenital Finnish nephrosis...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27865576/embolization-of-congenital-renal-arteriovenous-malformations-using-ethanol-and-coil-depending-on-angiographic-types
#9
Jin Ho Hwang, Young Soo Do, Kwang Bo Park, Hwan Hoon Chung, Hong Suk Park, Dongho Hyun
PURPOSE: To evaluate effectiveness and safety of embolization of congenital renal arteriovenous malformations (AVMs) using ethanol and/or coil according to angiographic type. MATERIALS AND METHODS: Between August 2010 and October 2015, 11 patients (13 sessions; 10 women and 1 man; mean age, 50.8 y) with congenital renal AVMs were treated using ethanol and/or coils via 2 approaches (transarterial access or direct puncture). Demographics, clinical findings, diagnostic modalities, angiographic types, technical and clinical success rates, and complications were reviewed...
November 16, 2016: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/27853022/utility-of-optical-coherence-tomography-in-a-case-of-bilateral-congenital-macular-coloboma
#10
José Enrique Muñoz de Escalona Rojas, Aurora Quereda Castañeda, Olga García García
Macular coloboma is a congenital defect of the retina and choroid in the macular region. It may appear due to an intrauterine inflammation or a developmental abnormality. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a result of malformation of the renal tubule. Its combination with ocular manifestations may be genetic, specifically in case of claudin-19 (CLDN-19) gene mutations. The combination of FHHNC and ocular manifestations is not always present in these patients. Optical coherence tomography (OCT) helps us diagnose this condition by allowing us to evaluate and confirm the absence of retina layers without histological examination...
September 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27852120/kim-1-is-a-potential-urinary-biomarker-of-obstruction-results-from-a-prospective-cohort-study
#11
Daniel Olvera-Posada, Thamara Dayarathna, Marie Dion, Husain Alenezi, Alp Sener, John D Denstedt, Stephen E Pautler, Hassan Razvi
INTRODUCTION: Partial or complete obstruction of the urinary tract is a common and challenging urological condition that may occur in patients of any age. Serum creatinine is the most commonly used method to evaluate global renal function, although it has low sensitivity for early changes in the glomerular filtration rate or unilateral renal pathology. Hence, finding another measurable parameter that reflects the adaptation of the renal physiology to these circumstances is important. Several recent studies have assessed the use of new biomarkers of Acute Kidney Injury (AKI), but the information among patients with stone disease and those with obstructive uropathy is limited...
November 16, 2016: Journal of Endourology
https://www.readbyqxmd.com/read/27851658/interobserver-agreement-on-cortical-tracer-transit-in-99mtc-mag3-renography-applied-to-congenital-hydronephrosis
#12
Ana Isabel Santos, Liliana Violante, Susana Carmona, Ana Prata, Margarida Rodrigues Victor, Joaquim G Santos, Joaquim Araújo Sequeira, Marta Alves, Ana Luísa Papoila, Amy Piepsz
OBJECTIVE: This study aims to evaluate interobserver agreement on visual analysis of technetium-99m mercaptoacetyltriglycine (Tc-MAG3) renal tissue transit used for the evaluation of antenatal hydronephrosis. MATERIALS AND METHODS: Thirty-eight Tc-MAG3 diuretic renograms were retrospectively collected between 1 and 31 December 2015. The 1-min reframed images were presented to four nuclear medicine consultants and to two nuclear medicine residents, one in the first year of the training program and the others in their fourth and final year...
November 15, 2016: Nuclear Medicine Communications
https://www.readbyqxmd.com/read/27849656/the-use-of-nesiritide-in-children-with-congenital-heart-disease
#13
Ronald A Bronicki, Michele Domico, Paul A Checchia, Curtis E Kennedy, Ayse Akcan-Arikan
OBJECTIVE: We evaluated the use of nesiritide in children with critical congenital heart disease, pulmonary congestion, and inadequate urine output despite conventional diuretic therapy. DESIGN: We conducted a retrospective analysis of 26 consecutive patients, comprising 37 infusions occurring during separate hospitalizations. Hemodynamic variables, urine output, and serum creatinine levels were monitored prior to and throughout the duration of therapy with nesiritide...
November 15, 2016: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/27847799/clinical-importance-of-congenital-anomalies-of-the-inferior-vena-cava-in-organ-procurement-surgery-from-a-deceased-donor-two-case-reports
#14
Mi-Hyeong Kim, Kang-Woong Jun, In-Sung Moon, Ji-Il Kim
Congenital anomalies of the inferior vena cava (IVC) are rare but important problems in living donors for kidney transplantation, especially in cases of a short left renal vein and accompanying vascular and urological anatomic variations. However, the clinical impacts of IVC anomalies in deceased donors have yet to be reported. The unexpected presence of an IVC in an unusual position poses challenges to surgeons and increases the risk of bleeding during organ removal. Accompanying vascular variations can cause unexpected bleeding and injury and therefore technical complications in procurement and subsequent implantation...
November 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27843667/congenital-vitelline-band-causing-intestinal-obstruction-in-an-adult-with-a-double-inferior-vena-cava
#15
Mihiri Wettasinghe, Kumari Pussepitiya, Bandula Samarasinghe, Nuwan Wickramasinghe
Introduction. Vitelline artery remnants are rare causes of intra-abdominal bands leading to bowel obstruction. These bands may be associated with Meckel's diverticulum. Double inferior vena cava (IVC) is a rare presentation and is usually identified incidentally. Case Presentation. A sixty-year-old male presented with progressive vomiting for five days and he was clinically diagnosed with intestinal obstruction. Plain X-ray abdomen showed evidence of small bowel obstruction. CT scan of the abdomen revealed dilated small bowel loops with a small outpouching in the distal ileum with a band like structure attached to it...
2016: Case Reports in Radiology
https://www.readbyqxmd.com/read/27843077/renal-replacement-therapies-in-neonates-issues-and-ethics
#16
REVIEW
Lesley Rees
Chronic irreversible kidney disease requiring dialysis is rare in the neonate. Many such neonates are diagnosed following antenatal ultrasound with congenital abnormalities of the kidneys and urinary tract. There is an increased incidence of prematurity and infants that are small for gestational age. Given the natural improvement in renal function that occurs in the neonatal period, some with extremely poor renal function may, with careful management of fluid and electrolytes, be kept off dialysis until the creatinine reaches a nadir when a definitive plan can be made...
November 11, 2016: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27836442/intravesical-ureteric-reimplantation-for-primary-obstructed-megaureter-in-infants-under-1-year-of-age
#17
Emily Jude, Aniruddh Deshpande, Andrew Barker, Japinder Khosa, Naeem Samnakay
PURPOSE: This study aimed to assess the outcome of intravesical ureteric reimplantation for primary obstructed megaureter (POM) performed in infants under 1 year of age. MATERIALS AND METHODS: A retrospective cohort study was carried out of all infants undergoing intravesical ureteric reimplantation surgery for POM at two pediatric centers in the 12 years between 2003 and 2014. Outcomes were compared with those of children aged over 1 year undergoing intravesical reimplantation for POM during this period...
October 24, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27832187/risk-factors-for-acute-kidney-injury-after-congenital-cardiac-surgery-in-infants-and-children-a-retrospective-observational-study
#18
Sun-Kyung Park, Min Hur, Eunhee Kim, Won Ho Kim, Jung Bo Park, Youngwon Kim, Ji-Hyuk Yang, Tae-Gook Jun, Chung Su Kim
Acute kidney injury (AKI) after pediatric cardiac surgery is associated with high morbidity and mortality. Modifiable risk factors for postoperative AKI including perioperative anesthesia-related parameters were assessed. The authors conducted a single-center, retrospective cohort study of 220 patients (aged 10 days to 19 years) who underwent congenital cardiac surgery between January and December 2012. The incidence of AKI within 7 days postoperatively was determined using the Kidney Disease: Improving Global Outcomes (KDIGO) criteria...
2016: PloS One
https://www.readbyqxmd.com/read/27826649/expanding-the-clinical-spectrum-of-chromosome-15q26-terminal-deletions-associated-with-igf-1-resistance
#19
Aisling M O'Riordan, Niamh McGrath, Farhana Sharif, Nuala P Murphy, Orla Franklin, Sally Ann Lynch, Michael J O'Grady
: Haploinsufficiency of the insulin-like growth factor-1 receptor (IGF1R) gene on chromosome 15q26.3 is associated with impaired prenatal and postnatal growth, developmental delay, dysmorphic features and skeletal abnormalities. Terminal deletions of chromosome 15q26 arising more proximally may also be associated with congenital heart disease, epilepsy, diaphragmatic hernia and renal anomalies. We report three additional cases of 15q26 terminal deletions with novel features which may further expand the spectrum of this rarely reported contiguous gene syndrome...
November 8, 2016: European Journal of Pediatrics
https://www.readbyqxmd.com/read/27825026/congenital-malformations-and-other-comorbidities-in-125-women-with-mayer-rokitansky-k%C3%A3-ster-hauser-syndrome
#20
Karina Kapczuk, Kinga Iwaniec, Zbigniew Friebe, Witold Kędzia
OBJECTIVE: To describe congenital malformations and coexisting disorders occurring in 125 Polish women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS). The syndrome is defined as uterovaginal aplasia in female with normal 46,XX karyotype. STUDY DESIGN: A retrospective analysis of the clinical data of MRKHS patients diagnosed or treated at the Gynecology and Obstetrics Clinical Hospital of Poznan University of Medical Sciences between 2010 and 2015. RESULTS: Sixty-eight patients (54,4%) were found to have one or more coexisting anomalies...
October 26, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
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