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https://www.readbyqxmd.com/read/28627003/sonographic-screening-for-wilms-tumor-in-children-with-cloves-syndrome
#1
Caitlin M Peterman, R Dawn Fevurly, Ahmad I Alomari, Cameron C Trenor, Denise M Adams, Sophie Vadeboncoeur, Marilyn G Liang, Arin K Greene, John B Mulliken, Steven J Fishman
BACKGROUND: CLOVES syndrome is associated with somatic mosaic PIK3CA mutations and characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies. Wilms tumor (WT) is a malignant embryonal renal neoplasm associated with hemihypertrophy and certain overgrowth disorders. After identifying WT in a child with CLOVES, we questioned whether ultrasonographic screening was necessary in these patients. METHODS: We retrospectively reviewed patients with CLOVES syndrome in our Vascular Anomalies Center at Boston Children's Hospital between 1998 and 2016 to identify those who developed WT...
June 19, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#2
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28624548/glucocorticoids-and-gut-bacteria-the-galf-hypothesis-in-the-metagenomic-era
#3
REVIEW
David J Morris, Jason M Ridlon
A new concept is emerging in biomedical sciences: the gut microbiota is a virtual 'organ' with endocrine function. Here, we explore the literature pertaining to the role of gut microbial metabolism of endogenous adrenocorticosteroids as a contributing factor in the etiology of essential hypertension. A body of literature demonstrates that bacterial products of glucocorticoid metabolism are absorbed into the portal circulation, and pass through the kidney before excretion into urine. Apparent Mineralocorticoid Excess (AME) syndrome patients were found to have congenital mutations resulting in non-functional renal 11β-hydroxysteroid dehydrogenase-2 (11β-HSD2) and severe hypertension often lethal in childhood...
June 14, 2017: Steroids
https://www.readbyqxmd.com/read/28620495/familial-partial-lipodystrophy-and-proteinuric-renal-disease-due-to-a-missense-c-1045c%C3%A2-%C3%A2-t-lmna-mutation
#4
Athanasios Fountas, Zoe Giotaki, Evangelia Dounousi, George Liapis, Alexandra Bargiota, Agathocles Tsatsoulis, Stelios Tigas
Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. On examination, there was partial loss of subcutaneous adipose tissue in the face, upper and lower limbs, bird-like facies with micrognathia and low set ears and mild acanthosis nigricans...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28612061/management-of-vesicoureteral-reflux-in-neurogenic-bladder
#5
REVIEW
Charlotte Q Wu, Israel Franco
Vesicoureteral reflux (VUR) is a significant risk factor for pyelonephritis and renal scarring. VUR can occur through a defective ureterovesical junction (UVJ) or an overwhelmed normal UVJ mechanism such as in bladder dysfunction of congenital, acquired, or behavioral etiology. There are numerous causes for the development of a neurogenic bladder from spinal dysraphisms to spinal cord trauma and even centrally based abnormalities in children with apparently normal motor function (inappropriately termed nonneurogenic neurogenic bladder)...
June 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28612056/critical-appraisal-of-the-top-down-approach-for-vesicoureteral-reflux
#6
REVIEW
Ahmed Abdelhalim, Antoine E Khoury
Vesicoureteral reflux (VUR) has been linked to recurrent urinary tract infections (UTIs), renal scarring, hypertension, renal insufficiency and end-stage kidney disease. Different imaging strategies have been proposed to approach children presenting with UTI to sort out patients with significant VUR while minimizing patient morbidity, radiation exposure and financial burden. None of these imaging strategies is universally accepted. The"top-down approach" (TDA) aims at restricting the number of voiding cystourethrograms (VCUGs) and its associated morbidity while identifying patients with clinically-significant reflux...
June 2017: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/28611971/diagnosis-and-management-of-hepatobiliary-complications-in-autosomal-recessive-polycystic-kidney-disease
#7
REVIEW
Andrew Wehrman, Alyssa Kriegermeier, Jessica Wen
Autosomal recessive polycystic kidney disease (ARPKD) is a congenital hepatorenal fibrocystic disease. The hepatic manifestations of ARPKD can range from asymptomatic to portal hypertension and massively dilated biliary system that results in liver transplantation. Hepatic complications of ARPKD typically present with signs of portal hypertension (splenomegaly and thrombocytopenia) or cholangitis. Liver disease in ARPKD does not always correlate with severity of renal disease. Management of ARPKD-related liver disease is largely treating specific symptoms, such as antibiotics for cholangitis or endoscopic treatment for variceal bleeding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28611930/vestibular-derangement-and-motion-intolerance-in-vater-association
#8
Orit Samuel, Avi Shupak, Ayelet Eran, Dror Tal
VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28603880/a-convex-hull-based-new-metric-for-quantification-of-bladder-wall-irregularity-in-pediatric-patients-with-congenital-anomalies-of-the-kidney-and-urinary-tract
#9
Joseph N Stember, Jeffrey Newhouse, Gerald Behr, Shumyle Alam
OBJECTIVES: Early identification and quantification of bladder damage in pediatric patients with congenital anomalies of the kidney and urinary tract (CAKUT) is crucial to guiding effective treatment and may affect the eventual clinical outcome, including progression of renal disease. We have developed a novel approach based on the convex hull to calculate bladder wall trabecularity in pediatric patients with CAKUT. The objective of this study was to test whether our approach can accurately predict bladder wall irregularity...
June 12, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28603565/current-concepts-congenital-scoliosis
#10
Agnivesh Tikoo, Manish K Kothari, Kunal Shah, Abhay Nene
BACKGROUND: Congenital scoliosis is one of the 'difficult to treat' scenarios which a spine surgeon has to face. Multiple factors including the age of child at presentation, no definite pattern of deformity and associated anomalies hinder the execution of the ideal treatment plan. All patients of congenital scoliosis need to be investigated in detail. X rays and MRI of spine is usually ordered first. Screening investigations to rule out VACTERL (Visceral, Anorectal, Cardiac, Tracheo-esophageal fistula, Renal and Lung) abnormalities are required...
2017: Open Orthopaedics Journal
https://www.readbyqxmd.com/read/28603157/anatomical-and-radiological-analyses-of-l-shaped-kidney-with-vascular-anomalies
#11
Joe Iwanaga, Koichi Watanabe, Tsuyoshi Saga, Nobuhiro Tahara, Yoko Tabira, Ayano Sakuragi, Keiko Kaji, Kiyoshi Takahashi, Koh-Ichi Yamaki
L-shaped kidney is a congenital anomaly. The disorder results in the kidney appearing very similar in shape to horseshoe kidney (also a congenital anomaly), but either the right or left kidney is located at a position lower than the other kidney. In this report, we describe a woman with L-shaped kidney, identified during anatomical dissection, and compare the findings with clinical data obtained before her death. We discuss the embryology of L-shaped kidney based on detailed anatomical data on the kidney and its vascular system obtained by means of gross anatomical, radiological, and histological examinations...
June 12, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28598537/factors-possibly-affecting-prognosis-in-children-with-wilms-tumor-diagnosed-before-24-months-of-age-a-report-from-the-associazione-italiana-ematologia-oncologia-pediatrica-aieop-wilms-tumor-working-group
#12
Paolo D'Angelo, Andrea Di Cataldo, Monica Terenziani, Gianni Bisogno, Paola Collini, Martina Di Martino, Fraia Melchionda, Clara Mosa, Marilina Nantron, Daniela Perotti, Giuseppe Puccio, Annalisa Serra, Serena Catania, Filippo Spreafico
BACKGROUND: Children with Wilms' tumor (WT) aged under 24 months (infants) have a better prognosis than older patients. Our aim was to study the epidemiology of this age group, with focus on the modality of diagnosis, tumor size, and association with malformations/syndromes, seeking to understand if any of these factors might be related to prognosis. PATIENTS AND METHODS: Infants diagnosed with WT between 2003 and February 2010 were evaluated. A query form was used to collect data on the modality of WT diagnosis (symptomatic or incidental), tumor volume, maximum diameter, site, and stage...
June 9, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28594943/childhood-cancer-risk-in-those-with-chromosomal-and-non-chromosomal-congenital-anomalies-in-washington-state-1984-2013
#13
Marlena S Norwood, Philip J Lupo, Eric J Chow, Michael E Scheurer, Sharon E Plon, Heather E Danysh, Logan G Spector, Susan E Carozza, David R Doody, Beth A Mueller
BACKGROUND: The presence of a congenital anomaly is associated with increased childhood cancer risk, likely due to large effects of Down syndrome and chromosomal anomalies for leukemia. Less is known about associations with presence of non-chromosomal anomalies. METHODS: Records of children diagnosed with cancer at <20 years of age during 1984-2013 in Washington State cancer registries were linked to their birth certificates (N = 4,105). A comparison group of children born in the same years was identified...
2017: PloS One
https://www.readbyqxmd.com/read/28593883/congenital-anomalies-of-the-kidney-and-urinary-tract-cakut
#14
Nadica Ristoska-Bojkovska
Congenital anomalies of the kidneys and urinary tract (CAKUT) are found in 3-6 out of 1.000 of the newborns, or according to some statistics they are represented in 0.5% of all pregnancies. Congenital abnormalities of the kidneys and urinary tract present a family of diseases of various anatomic spectrum, including renal anomalies, and anomalies of the bladder and urethra. The study was retrospective-prospective which means that it included newly diagnosed patients suffering from CAKUT, as well as those patients with already diagnosed and well defined CAKUT on the basis of imaging studies which have been processed according to the protocol for this study...
March 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/28591961/-diagnostic-value-of-cystain-c-in-contrast-associated-acute-kidney-injury-after-transcatheter-closure-for-children-with-congenital-heart-disease
#15
Yu Peng, Xiao-Lin Hou, Wu-Ran Wei, Xiao-Qing Shi, Peng Xu, Qiu-Hong Luo, Li Li
OBJECTIVES: To investigate the diagnostic value of cystain C (SCys-C) in contrast associated acute kidney injury (AKI) after transcatheter closure for children with congenital heart disease. METHODS: There were 128 children with congenital heart disease (interventricular septal defect or patent ductus arteriosus) underwent transcatheter closure in West China Second University Hospital during 2013. Blood urea nitrogen (BUN), serum creatinine (SCr) and SCys-C were examined before surgery and at 24 and 48 h after surgery...
July 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28580041/imaging-diagnosis-of-a-rare-presacral-tumour
#16
Hemal Grover, Amrit Pal Ahluwalia, Sanjay Sethi
BACKGROUND: Primary tumors in the presacral (retrorectal) space are extremely rare in adults, with an estimated incidence of 0.0025 to 0.014 in large referral centers. Congenital varieties are most common and comprise two thirds of these tumors. Primary retroperitoneal sarcomas in the pelvic region are extremely rare. We report the ultrasound and the corresponding Computed Tomography (CT) features of a rare presacral fibrosarcoma in an adult woman, in whom the diagnosis was confirmed by a CT-guided biopsy...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28557245/everolimus-in-pregnancy-case-report-and-literature-review
#17
Mie Yamamura, Takashi Kojima, Masayuki Koyama, Ataru Sazawa, Takahiro Yamada, Hisanori Minakami
There have been few reports on the effects of everolimus on the fetus, but none of six infants with documented everolimus exposure in utero had congenital malformations. A 32-year-old nulliparous woman on everolimus (5.0 mg/day) for renal angiomyolipoma (AML) due to tuberous sclerosis complex (TSC) was found to be pregnant at gestational week (GW) 7-5/7, at which time everolimus was withheld. To control AML in this patient, transarterial embolization was performed in the right and left kidneys at GW 21 and 24, respectively, and everolimus was reinitiated at GW 25...
May 29, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28555299/life-with-one-kidney
#18
Michiel F Schreuder
Life with a solitary functioning kidney (SFK) may be different from that when born with two kidneys. Based on the hyperfiltration hypothesis, a SFK may lead to glomerular damage with hypertension, albuminuria and progression towards end-stage renal disease. As the prognosis of kidney donors was considered to be very good, having a SFK has been considered to be a benign condition. In contrast, our research group has demonstrated that being born with or acquiring a SFK in childhood results in renal injury before adulthood in over 50% of those affected...
May 29, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28554812/outcomes-of-a-cohort-of-prenatally-diagnosed-and-early-enrolled-patients-with-congenital-solitary-functioning-kidney
#19
Pierluigi Marzuillo, Stefano Guarino, Anna Grandone, Allegra Di Somma, Nicoletta Della Vecchia, Tiziana Esposito, Giulia Macchini, Rosaria Marotta, Andrea Apicella, Mario Diplomatico, Pier Francesco Rambaldi, Laura Perrone, Emanuele Miraglia Del Giudice, Angela La Manna, Cesare Polito
PURPOSE: To evaluate the clinical course of prenatally diagnosed and early-enrolled patients with congenital solitary functioning kidney (CSFK) and to identify the risk factors for renal injury. MATERIAL AND METHODS: We retrospectively evaluated 322 CSFK patients according to the following inclusion criteria: i) prenatal diagnosis of solitary kidney, ii) first evaluation at 1-3 months of life with confirmation of CSFK and evaluation of possible associated Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) by abdomen ultrasound, renal scintigraphy and cystography, iii) absence of any condition potentially affecting the renal function in the neonatal period and absence of renal injury at enrollment (1-3 months of life) confirmed by a normal estimated glomerular filtration rate, lack of proteinuria and hypertension...
May 26, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28554576/congenital-capillary-proliferation-of-the-kidney-a-distinctive-renal-vascular-lesion-of-childhood
#20
Mariana M Cajaiba, Paula E North, Shunyou Gong, Paul S Dickman, Elizabeth Mroczek-Musulman, David A Sauer, Elizabeth J Perlman
Renal vascular lesions (RVL) are rare and their morphological spectrum remains largely unknown, particularly in children. In this study, we characterize the clinicopathological features of RVL in a cohort of twelve children. Seven lesions were classified as previously recognized entities: vascular malformations (four), papillary endothelial hyperplasia (two), and pyogenic granuloma (lobular capillary hemangioma) (one). An eighth lesion showed nonspecific findings which were interpreted as reactive during our review...
May 26, 2017: Human Pathology
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