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renal dysplasia

Adela Urisarri, Marta Gil, Natalia Mandiá, Luís Aldamiz-Echevarría, Roca Iria, Domingo González-Lamuño, María-Luz Couce
To evaluate the prognostic significance of factors frequently associated with a reduction in renal mass, such as prematurity, low birth weight, and congenital anomalies of kidney and urinary tract (CAKUT), in patients with solitary functioning kidney (SFK) and investigate signs of early renal injury due to glomerular hyperfiltration damage or dysplasia in the remaining kidney.Retrospective observational study of congenital SFK diagnosed and followed at a tertiary care hospital over a period of 10 years in which 32,900 newborns underwent routine neonatal abdominal ultrasound screening...
August 2018: Medicine (Baltimore)
Paulo Renato Marcelo Moscardi, Chryso P Katsoufis, Mona Jahromi, Ruben Blachman-Braun, Marissa J DeFreitas, Kristin Kozakowski, Miguel Castellan, Andrew Labbie, Rafael Gosalbez, Alireza Alam
BACKGROUND: Vesicoamniotic shunting (VAS) and other bladder drainage techniques for fetal lower urinary tract obstruction (LUTO) have been proven to ameliorate pulmonary hypoplasia and increase survival in patients with an initial poor prognosis. Currently there are limited prognostic tools available during gestation to evaluate and predict postnatal renal function. OBJECTIVE: The aim was to describe the prenatal growth of the renal parenchymal area (RPA) in patients with LUTO and determine its application as a predictor of renal function at one year of life...
July 24, 2018: Journal of Pediatric Urology
Evangelia Pappa, Constantinos Papadopoulos, Philippe Grimbert, Pascal Laforêt, Guillaume Bassez
Vascular involvement in Late Onset Pompe Disease, glycogen storage disease type II characterized by limb-girdle muscle and diaphragmatic weakness, is well documented. Abnormalities of posterior cerebral circulation have mostly been reported, whereas there are also cases of associated extracerebral arteriopathy. We report the case of a 42-year-old man diagnosed with LOPD a year after renal infarct due to renal artery fibromuscular dysplasia. We propose that the association of LOPD and arteriopathy should always be considered in clinical practice...
September 2018: Molecular Genetics and Metabolism Reports
Sidra Khalid, Jad H Daw, Ashoka Nautiyal, Hamed Daw
Fibromuscular dysplasia (FMD) is a condition caused by an abnormal development or growth of cells in the arterial walls in the body. We present a case of a 49-year-old male who came in with a sudden onset of severe left-sided abdominal pain. Computed tomography (CT) scan of the abdomen was suggestive of a left renal infarct. He underwent renal angiography that showed FMD and a clot located in the anterior branch of the left renal artery. The patient was then treated with apixaban for the clot and amlodipine for the associated hypertension...
March 14, 2018: Curēus
Daniella Kadian-Dodov, Judith Z Goldfinger, Susan Gustavson, Jeffrey W Olin
BACKGROUND AND PURPOSE: Fibromuscular dysplasia (FMD) is a non-atherosclerotic arteriopathy most often affecting the carotid and renal arteries. In the United States Registry for FMD, 41.7% of patients experienced an aneurysm and/or dissection by the time of entry into the Registry. We sought to determine the occurrence of neurovascular events after FMD diagnosis and any changes on cervical artery imaging that may be attributable to FMD. METHODS: Patients followed at the Mount Sinai Medical Center (US Registry for FMD enrollment center) with confirmed FMD and > 1 cervical artery imaging study (at least ± 6 months from the baseline carotid duplex ultrasound [CDU]) between the years 2003 and 2015 were included...
July 31, 2018: Cerebrovascular Diseases
G Bruno, P Trentino, M A Viarengo, A Toma, C Virili, M Centanni, A Picarelli, P Gozzo, F Accarpio, B Porowska
The prevalence of sporadic duodenal polyps is estimated to be 0.3%-4.6% in patients referred for an upper endoscopy. Most of patients are asymptomatic (66-80%) at the time of diagnosis though bleeding, anemia and abdominal pain are the most commonly reported symptoms. These are related to the polyp's size, location and histological characteristics. We describe three cases of big, pedunculated nonampullary sporadic duodenal polyps (tubulovillous low-grade dysplasia adenomas) located in the second part of the duodenum and characterized by different clinical presentations, managed in our Endoscopic Unit within one year (between 2016 and 2017)...
July 2018: Il Giornale di Chirurgia
Hong-Liang Xiong, Meng Peng, Xiong-Jing Jiang, Wu-Qiang Che, Hui Dong, Yang Chen, Yu-Bao Zou, Run-Lin Gao, Li-Sheng Liu
The time trends regarding the etiology of renal artery stenosis (RAS) are changing, but few investigations have focused on these issues. This study aimed to analyze the time trends regarding the etiology of RAS in a large patient sample from the China Center for Cardiovascular Disease. Consecutive inpatients with RAS from January 1999 to December 2016 were enrolled in this study. The etiologic diagnosis of RAS was based on established criteria. We retrospectively analyzed the time trends regarding the etiology of RAS during an 18-year period...
July 19, 2018: Journal of Clinical Hypertension
Amir Hossein Babaei, Soroor Inaloo, Mitra Basiratnia, Ali Derakhshan
Schimke Immuno-osseous Dysplasia (SIOD) is a rare autosomal recessive disease caused by a biallelic mutation in SMARCAL1 gene. Typical findings in SIOD include spondylo-epiphyseal dysplasia, steroid resistance nephrotic syndrome, progressive renal failure, T-cell immunodeficiency, bone marrow failure, and cerebral infarction. In this case report, we describe a 9-yr-old girl who presented with failure to thrive in infancy. Nephrotic syndrome was diagnosed at the age of four years. She had three episodes of admission with cerebral stroke due to moyamoya syndrome...
2018: Iranian Journal of Child Neurology
Lior Greenbaum, Yinon Gilboa, Annick Raas-Rothschild, Ortal Barel, Nitzan Kol, Haike Reznik-Wolf, Ben Pode-Shakked, Yael Finezilber, Baruch Messing, Michal Berkenstadt
Diaphanospondylodysostosis (DSD) is a rare autosomal recessive skeletal disorder, characterized mainly by ossification defects in vertebrae, thorax malformations, renal cystic dysplasia and usually death in the perinatal period. DSD is caused by mutations in the bone morphogenetic protein-binding endothelial regulator (BMPER) gene. We describe the prenatal findings of a non-consanguineous Jewish couple (shared Balkan origin), with three affected fetuses that presented with malformations in the spine and chest, reduced ossification of the skull and spine, horseshoe kidney and increased nuchal translucency...
July 10, 2018: European Journal of Medical Genetics
Matthew W Harer, Alison L Kent
Hypertension is encountered in up to 3% of neonates and occurs more frequently in neonates requiring hospitalization in the neonatal intensive care unit (NICU) than in neonates in newborn nurseries or outpatient clinics. Former NICU neonates are at higher risk of hypertension secondary to invasive procedures and disease-related comorbidities. Accurate measurement of blood pressure (BP) remains challenging, but new standardized methods result in less measurement error. Multiple factors contribute to the rapidly changing BP of a neonate: gestational age, postmenstrual age (PMA), birth weight, and maternal factors are the most significant contributors...
July 5, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Susanna Negrisolo, Andrea Carraro, Giulia Fregonese, Elisa Benetti, Franz Schaefer, Marta Alberti, Salvatore Melchionda, Rita Fischetto, Mario Giordano, Luisa Murer
Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and renal congenital abnormalities. The renal involvement, ranging from hematuria and proteinuria to end-stage renal disease, is present in 22-60% of NPS cases. Heterozygous variants in LMX1B are known to be responsible of NPS and it has been hypothesized that the variable expressivity is due to the interaction of LMX1B with other developmental genes. We reported a case of co-presence of LMX1B and PAX2 variants in a child with extrarenal manifestation of NPS and end-stage renal disease but congenital bilateral renal hypodysplasia and vesicoureteral reflux...
July 4, 2018: European Journal of Human Genetics: EJHG
Daan J L van Twist, Peter W de Leeuw, Abraham A Kroon
Fibromuscular dysplasia is a heterogeneous group of systemic, noninflammatory, and nonatherosclerotic diseases of the vascular wall. It is the second-most common abnormality of the renal artery. Although hypertension is the most common presenting symptom, other symptoms, such as pulsatile tinnitus, stroke, chest pain, or abdominal discomfort, may result from other affected vascular beds. Revascularization of the renal artery appears to be effective at lowering blood pressure in many patients with renal artery fibromuscular dysplasia...
July 3, 2018: Hypertension Research: Official Journal of the Japanese Society of Hypertension
Peter G Passias, Gregory W Poorman, Dennis Vasquez-Montes, Charles Wang, Cyrus Jalai, Samantha R Horn, Leah M Steinmetz, Cole A Bortz, Frank A Segreto, John Moon, Peter L Zhou, Bassel G Diebo, Shaleen Vira
BACKGROUND: Cardiac anomalies are prevalent in patients with bony spinal anomalies. Prior studies evaluating incidences of bony congenital anomalies of the spine are limited. The Kids' Inpatient Database (KID) yields national discharge estimates of rare pediatric conditions like congenital disorders. This study utilized cluster analysis to study patterns of concurrent vertebral anomalies, anal atresia, cardiac malformations, trachea-esophageal fistula, renal dysplasia, and limb anomalies (VACTERL anomalies) co-occurring in patients with spinal congenital anomalies...
August 2018: Acta Neurochirurgica
Jeanette H Man, Abby Rothstein, Parag J Patel, Cheong J Lee
We report the case of a 44-year-old woman who developed an acute type B aortic dissection caused by an entry tear from an aneurysmal left common iliac artery that extended retrograde to the proximal descending thoracic aorta. She experienced refractory chest pain despite optimal medical management, thereby indicating repair. Endovascular aortic repair was subsequently performed. Intraoperatively, fibromuscular dysplasia was diagnosed by the characteristic appearance of her renal arteries. The patient tolerated the procedure and had resolution of her chest pain...
June 2018: Journal of Vascular Surgery Cases and Innovative Techniques
Maha A Al-Rakan, Manal D Abothnain, Muhammad T Alrifai, Majid Alfadhel
BACKGROUND: Galloway-Mowat syndrome (GMS) is a rare autosomal recessive condition first described in 1968 and characterized by microcephaly and infantile onset of central nervous system (CNS) abnormalities resulting in severely delayed psychomotor development, cerebellar atrophy, epilepsy, and ataxia, as well as renal abnormalities such as nephrotic syndrome, proteinuria, end-stage renal disease (ESRD), and hiatal hernia. CASE PRESENTATION: We describe a GMS case diagnosed with homozygous missense mutation in the WDR73 gene, with absence of renal abnormalities...
June 22, 2018: BMC Ophthalmology
Imad Bagh, Jeffrey W Olin, James B Froehlich, Eva Kline-Rogers, Bruce Gray, Esther S H Kim, Aditya Sharma, Ido Weinberg, Bryan J Wells, Xiaokui Gu, Heather L Gornik
Importance: Fibromuscular dysplasia (FMD) is a nonatherosclerotic arterial disease that predominately affects women and is most commonly diagnosed in middle age. The natural history of FMD among patients diagnosed at an older age is not well understood. Objective: To examine the differences in clinical presentation, arterial bed involvement, vascular events, and need for vascular procedures between younger and older patients with FMD. Design, Setting, and Participants: Analysis of baseline data for patients enrolled in the US Registry for FMD as of December 15, 2016, at referral centers participating in the US Registry for FMD...
June 20, 2018: JAMA Cardiology
Y Hodovanets, A Babintseva, L Agafonova, O Makarova, A Frunza
Newborns are especially prone to oxidative stress (OS). Many free radical-mediated diseases have been described in newborns including bronchopulmonary dysplasia, respiratory distress syndrome, encephalopathy, and kidney injury. Objective of this work was to determine predictive and diagnostic value of urinary malondialdehyde (UMDA) as a marker for acute kidney injury (AKI) in critically sick full-term newborns. 67 critically sick full-term neonates were enrolled in the study including 31 newborns with AKI (group I) and 36 newborns without AKI (group II)...
May 2018: Georgian Medical News
Shilei Jia, Jun Yang, Tingyan He, Weibin Li, Xianze Luo, Yanyan Huang, Chengrong Li
OBJECTIVE: To explore the clinical characteristics of a patient with Sensenbrenner syndrome (also called cranioectodermal dysplasia type 3) caused by mutation of intraflagellar transport (IFT) 43 gene. METHODS: The clinical data of the patient was retrospectively analyzed. The target genes was the patient were captured and subjected to next generation sequencing. Suspected mutations were verified through Sanger sequencing. RESULTS: The patient, a-13 year-and-5-month-old girl, was admitted for anemia and renal dysfunction for 8 months...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Daan J L van Twist, Pieter W M de Heer, Alfons J H M Houben, Michiel W de Haan, Peter W de Leeuw, Abraham A Kroon
OBJECTIVE: Fibromuscular dysplasia (FMD) can be classified in a multifocal and a unifocal subtype. As unifocal FMD generally leads to more severe hypertension at younger age, we hypothesized that renal hemodynamics are more disturbed in unifocal renal artery FMD as compared with multifocal FMD, leading to increased renin secretion. METHODS: We measured renal blood flow (Xenon washout method), renin secretion, and glomerular filtration rate per kidney in 101 patients with FMD (26 unifocal and 75 multifocal), all off medication and prior to balloon angioplasty...
August 2018: Journal of Hypertension
Robert Louis, Daniella Levy-Erez, Anne Marie Cahill, Kevin E Meyers
BACKGROUND: Fibromuscular dysplasia (FMD) is a non-inflammatory vascular disease that in children unlike in adults shows no sex predilection. FMD is often underdiagnosed, and its pathophysiology is unclear. Delayed diagnosis may lead to refractory hypertension and decreases the chance of successful treatment. Doppler ultrasound (US), magnetic resonance angiography (MRA), computed tomography angiography (CTA), and catheter-based angiography (angiography) are currently used to help make a clinicoradiological diagnosis of FMD...
September 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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