keyword
MENU ▼
Read by QxMD icon Read
search

cystic kidney

keyword
https://www.readbyqxmd.com/read/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#1
Leah R Fleming, Daniel A Doherty, Melissa A Parisi, Ian A Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C Mullikin, May Christine Malicdan, Thierry Vilboux, John A Sayer, William A Gahl, Meral Gunay-Aygun
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146700/phenotypic-spectrum-of-children-with-nephronophthisis-and-related-ciliopathies
#2
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29145295/extrarenal-teratoma-with-nephroblastoma-in-the-retroperitoneum-case-report-and-literature-review
#3
Yanan Li, Chuanfen Lei, Bo Xiang, Fuyu Li, Chuan Wang, Qi Wang, Siyuan Chen, Yi Ji
RATIONALE: Teratoma with nephroblastoma is a rare disease. The most common site at which teratoma with nephroblastoma occurs is the kidney. The mechanisms underlying the development of teratoma with nephroblastoma have not been fully elucidated. PATIENT CONCERNS: In the current report, we describe the clinical characteristics of a 3-year-old girl with a complaint of a painless abdominal mass in the upper right side of the body. Ultrasonography and computed tomography revealed a cystic-solid mass with a clear boundary...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29133165/infant-crossed-renal-ectopia-with-upj-obstruction-repaired-via-robot-assisted-laparoscopic-pyeloplasty
#4
K Puttmann, G O Huang, J T White, K Kukreja, A Seth, C J Koh
INTRODUCTION: We present a robot-assisted approach to surgical treatment of UPJ obstruction associated with crossed renal ectopia in a male infant. METHODS: A 31 year-old woman presented at 37 weeks gestation for prenatal hydronephrosis and delivered at 39 weeks. Renal ultrasound identified the bladder and right kidney in a crossed ectopic position in the left pelvis, and MRI showed the cystic lesion to be hydronephrosis associated with a ureteropelvic junction obstruction of the crossed ectopic right kidney...
October 27, 2017: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/29115094/the-first-successful-lung-transplantation-in-a-korean-child-with-cystic-fibrosis
#5
Soo Ran Noh, Eun Lee, Jisun Yoon, Sungsu Jung, Song I Yang, Jinho Yu, Soo Jong Hong
Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Respiratory failure remains the most frequent cause of morbidity and mortality. Lung transplantation is the only option to treat end-stage lung disease. Very few cases of CF occur in Koreans. We report the case of a 12-year-old girl with respiratory failure due to CF who underwent lung transplantation. She had been diagnosed with CF 8 years previously after being treated for recurrent Pseudomonas aeruginosa pneumonia and malnutrition based on sweat chloride concentrations and the CFTR protein gene mutation test...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29107072/ectopic-phosphorylated-creb-marks-dedifferentiated-proximal-tubules-in-cystic-kidney-disease
#6
Pawan Puri, Caitlin M Schaefer, Daniel Bushnell, Mary E Taglienti, Jordan A Kreidberg, Bradley K Yoder, Carlton M Bates
Ectopic cAMP signaling is pathological in polycystic kidney disease; however, its spatio-temporal actions are unclear. We characterized expression of phosphorylated Creb (p-Creb), a target and mediator of cAMP signaling, in developing and cystic kidney models. We also examined tubule-specific effects of cAMP analogs in cystogenesis in embryonic kidney explants. In wild-type mice, p-Creb marked nephron progenitors (NP), early epithelial NP derivatives, ureteric bud, and cortical stroma; p-Creb was present in differentiated thick ascending limb of Henle, collecting duct, and stroma; however, it disappeared in mature NP-derived proximal tubules...
October 26, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29102941/angiomyolipoma-of-the-liver-a-rare-benign-tumor-treated-with-a-laparoscopic-approach-for-the-first-time
#7
Christos Damaskos, Nikolaos Garmpis, Anna Garmpi, Afroditi Nonni, Stratigoula Sakellariou, Georgios-Antonios Margonis, Eleftherios Spartalis, Dimitrios Schizas, Nikolaos Andreatos, Eleni Magkouti, Alexandros Grivas, Konstantinos Kontzoglou, Matthew J Weiss, Efstathios A Antoniou
BACKGROUND/AIM: Epithelioid angiomyolipoma of the liver is a rare benign mesenchymal tumor that usually presents in adult female patients. It most frequently occurs in the kidney, with the liver being the second most common site of involvement. Angiomyolipoma belongs to a family of tumors arising from perivascular epithelioid cells, but in rare cases may also have cystic features. We report our experience via the first case of hepatic angiomyolipoma treated by laparoscopic approach. PATIENTS AND METHODS: We present the case of a 50-year-old female patient complaining of abdominal pain...
November 2017: In Vivo
https://www.readbyqxmd.com/read/29100091/mutations-in-greb1l-cause-bilateral-kidney-agenesis-in-humans-and-mice
#8
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29081931/atypical-clinical-presentation-and-successful-treatment-with-oral-cholic-acid-of-a-child-with-defective-bile-acid-synthesis-due-to-a-novel-mutation-in-the-hsd3b7-gene
#9
Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β-hydroxy-Δ(5)-C(27)-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). HSDH3B7 gene analysis identified one mutation in intron 4, at nucleotide 432, G>A substitution that has never been reported before...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29080560/adenoid-cystic-carcinoma-of-the-breast-an-aggressive-presentation-with-pulmonary-kidney-and-brain-metastases-a-case-report
#10
Hasnae Alaoui Mhamdi, Hampig Raphael Kourie, Christiane Jungels, Philippe Aftimos, Rhizlane Belbaraka, Martine Piccart-Gebhart
BACKGROUND: Adenoid cystic carcinoma of the breast is a rare malignant neoplasm associated with an excellent prognosis and a very rare occurrence of metastases. CASE PRESENTATION: We report the case of an aggressive presentation in a 65-year-old woman, of Belgian origin, who was diagnosed as having adenoid cystic carcinoma of the breast and developed metastases to her lung, kidney, and brain. CONCLUSIONS: We describe similar cases reported in the literature and discuss the molecular characteristics and treatment paradigm of this controversially aggressive disease entity...
October 29, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29079259/endoscopic-endonasal-transsphenoidal-drainage-of-a-spontaneous-candida-glabrata-pituitary-abscess-case-report-intraoperative-video
#11
Ben A Strickland, Martin Pham, Joshua Bakhsheshian, John Carmichael, Martin Weiss, Gabriel Zada
Noniatrogenic pituitary abscesses remain a rare clinical entity, and are the indication for surgery in <1% of transsphenoidal approaches. Correct diagnosis of this rare entity is often delayed. Without timely treatment, morbidity and mortality are high. Of the 200 cases reported, less than half have identified a causative organism. We report the second case of a pituitary abscess caused by Candida species, and further provide intraoperative video of endoscopic management of this pathology. A 33-year-old woman presented with headache, hypopituitarism, and vision loss in the setting of diabetic ketoacidosis, and was found to have multiple abscesses in the liver, lung, kidney, and uterus...
October 24, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29069247/reversal-of-uremic-tumoral-calcinosis-by-optimization-of-clinical-treatment-of-bone-and-mineral-metabolism-disorder
#12
Mariana Espiga Maioli, Vinicius Daher Alvares Delfino, Amanda Carolina Damasceno Zanuto Guerra, Luiz Fernando Kunii, Raquel Ferreira Nassar Frange
Tumoral calcinosis is an uncommon type of extraosseous calcification characterized by large rubbery or cystic masses containing calcium-phosphate deposits. The condition prevails in the periarticular tissue with preservation of osteoarticular structures. Elevated calcium-phosphorus products and severe secondary hyperparathyroidism are present in most patients with uremic tumoral calcionosis (UTC). Case report of an obese secondary to chronic glomerulonephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD) reported the appearance of painless tumors in the medial surface of fifth finger and left arm...
April 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29069013/incidentally-polycystic-kidney-disease-identified-by-spect-ct-with-post-therapy-radioiodine-scintigraphy-in-a-patient-with-differentiated-thyroid-carcinoma-a-case-report
#13
Yan-Xia Mi, Xin Sui, Jian-Min Huang, Ling-Ge Wei, Peng Xie
RATIONALE: Post-therapy or diagnostic whole-body radioiodine scintigraphy is widely employed to evaluate the residual, recurrence, or metastases of differentiated thyroid carcinoma because of the high sensitivity and accuracy. However, it has pitfalls. PATIENT CONCERNS: We described a 63-year-old male with a history of papillary thyroid carcinoma who was referred for iodine-131 ablation therapy. The post-therapy iodine-131 whole-body images demonstrated abnormal increased uptake of the tracer in the regions of bilateral upper abdomen...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29062909/congenital-hepatic-fibrosis-in-a-9-year-old-female-patient-a-case-report
#14
Kamil Janowski, Maria Goliszek, Joanna Cielecka-Kuszyk, Irena Jankowska, Joanna Pawłowska
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes...
September 2017: Clin Exp Hepatol
https://www.readbyqxmd.com/read/29062271/aminoglycoside-induced-cochleotoxicity-a-review
#15
REVIEW
Meiyan Jiang, Takatoshi Karasawa, Peter S Steyger
Aminoglycoside antibiotics are used as prophylaxis, or urgent treatment, for many life-threatening bacterial infections, including tuberculosis, sepsis, respiratory infections in cystic fibrosis, complex urinary tract infections and endocarditis. Although aminoglycosides are clinically-essential antibiotics, the mechanisms underlying their selective toxicity to the kidney and inner ear continue to be unraveled despite more than 70 years of investigation. The following mechanisms each contribute to aminoglycoside-induced toxicity after systemic administration: (1) drug trafficking across endothelial and epithelial barrier layers; (2) sensory cell uptake of these drugs; and (3) disruption of intracellular physiological pathways...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29058957/ctgf-is-expressed-during-cystic-remodeling-in-the-pkd-mhm-cy-rat-model-for-autosomal-dominant-polycystic-kidney-disease-adpkd
#16
Stefan Gauer, Yvonne Holzmann, Bettina Kränzlin, Sigrid C Hoffmann, Norbert Gretz, Ingeborg A Hauser, Margarete Goppelt-Struebe, Helmut Geiger, Nicholas Obermüller
Connective tissue growth factor (CTGF, also named CCN2) plays an important role in the development of tubulointerstitial fibrosis, which most critically determines the progression to end-stage renal failure in autosomal-dominant polycystic kidney disease (ADPKD), the most common genetically caused renal disease. We determined CTGF expression in a well-characterized animal model of human ADPKD, the PKD/Mhm (cy/+) rat. Kidneys of 12 weeks old (cy/+) as well as (+/+) non-affected rats were analyzed for CTGF RNA and protein expression by RT-PCR, Northern and Western blot analyses, in situ hybridization, and IHC...
October 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29052568/genetic-testing-of-the-mucin-1-gene-variable-number-tandem-repeat-single-cytosine-insertion-mutation-in-a-chinese-family-with-medullary-cystic-kidney-disease
#17
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29044342/acquired-cystic-kidney-disease-in-allograft-with-long-standing-poor-function
#18
Leonardo Cardili, Henrique Machado de Sousa Proença, Marcello Fabiano de Franco
Acquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion. Its occurrence in chronically rejected renal allografts is rare and its frequency and behavior in this setting are not well known. Herein we report a case of ACKD in a long standing nonfunctional allograft (215 months) which is not associated with malignancy and briefly review the related literature...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29034881/generation-of-induced-pluripotent-stem-cells-derived-from-an-autosomal-dominant-polycystic-kidney-disease-patient-with-a-p-ser1457fs-mutation-in-pkd1
#19
Ching-Ying Huang, Ming-Ching Ho, Jia-Jung Lee, Daw-Yang Hwang, Hui-Wen Ko, Yu-Che Cheng, Yu-Hung Hsu, Huai-En Lu, Hung-Chun Chen, Patrick C H Hsieh
Autosomal dominant polycystic kidney disease is one of the most prevalent forms of inherited cystic kidney disease, and can be characterized by kidney cyst formation and enlargement. Here we report the generation of a Type 1 ADPKD disease iPS cell line, IBMS-iPSC-012-12, which retains the conserved deletion of PKD1, normal karyotype and exhibits the properties of pluripotent stem cells such as ES-like morphology, expression of pluripotent markers and capacity to differentiate into all three germ layers. Our results show that we have successfully generated a patient-specific iPS cell line with a mutation in PKD1 for study of renal disease pathophysiology...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29033332/disruption-of-core-planar-cell-polarity-signaling-regulates-renal-tubule-morphogenesis-but-is-not-cystogenic
#20
Koshi Kunimoto, Roy D Bayly, Eszter K Vladar, Tyson Vonderfecht, Anna-Rachel Gallagher, Jeffrey D Axelrod
Oriented cell division (OCD) and convergent extension (CE) shape developing renal tubules, and their disruption has been associated with polycystic kidney disease (PKD) genes, the majority of which encode proteins that localize to primary cilia. Core planar cell polarity (PCP) signaling controls OCD and CE in other contexts, leading to the hypothesis that disruption of PCP signaling interferes with CE and/or OCD to produce PKD. Nonetheless, the contribution of PCP to tubulogenesis and cystogenesis is uncertain, and two major questions remain unanswered...
October 23, 2017: Current Biology: CB
keyword
keyword
114632
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"