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https://www.readbyqxmd.com/read/29042084/adenylyl-cyclase-5-deficiency-reduces-renal-cyclic-amp-and-cyst-growth-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#1
Qian Wang, Patricia Cobo-Stark, Vishal Patel, Stefan Somlo, Pyung-Lim Han, Peter Igarashi
Cyclic AMP promotes cyst growth in polycystic kidney disease (PKD) by stimulating cell proliferation and fluid secretion. Previously, we showed that the primary cilium of renal epithelial cells contains a cAMP regulatory complex comprising adenylyl cyclases 5 and 6 (AC5/6), polycystin-2, A-kinase anchoring protein 150, protein kinase A, and phosphodiesterase 4C. In Kif3a mutant cells that lack primary cilia, the formation of this regulatory complex is disrupted and cAMP levels are increased. Inhibition of AC5 reduces cAMP levels in Kif3a mutant cells, suggesting that AC5 may mediate the increase in cAMP in PKD...
October 14, 2017: Kidney International
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
#2
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
#3
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 11, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29030159/obstructive-m%C3%A3-llerian-anomalies-in-menstruating-adolescent-girls-a-report-of-22-cases
#4
Karina Kapczuk, Zbigniew Friebe, Kinga Iwaniec, Witold Kędzia
STUDY OBJECTIVE: To assess the clinical course of obstructive Müllerian anomalies found in girls after menarche DESIGN: A retrospective case series of adolescents who between 2009 and 2016 were treated for vaginal or uterine obstructive malformations diagnosed after menarche SETTING: Division of Gynecology, Poznań University of Medical Sciences, Poznań, Poland PARTICIPANTS: Twenty-two patients who, at the age of 11.4-18.2 (median 13.1) years, between 2 and 74 (median 7.5) months after menarche, underwent surgical repair of obstructive genital anomaly MAIN OUTCOME MEASURES: Müllerian defect type, presentation, radiologic findings, pre- and postoperative course RESULTS: Eighteen patients (81...
October 10, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/29026418/heterozygosity-analysis-of-polycystic-kidney-disease-1-gene-microsatellite-markers-for-linkage-analysis-of-autosomal-dominant-polycystic-kidney-disease-type-1-in-the-iranian-population
#5
Razieh Fatehi, Sharifeh Khosravi, Maryam Abedi, Rasoul Salehi, Yousof Gheisari
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease. Although imaging techniques are a means of accurate diagnosis when the cysts appear in the third or fourth decades of the patient's life, they are of little value for early diagnosis. Genetic tests are required for preimplantation genetic diagnosis, decision-making for kidney donation to an affected relative. Although mutation of the polycystic kidney disease (PKD1) gene is solely responsible for the most cases of ADPKD, direct genetic testing is limited by the large size of this gene and the presence of many mutations without hot spots...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/29022557/two-childhood-pheochromocytoma-cases-due-to-von-hippel-lindau-disease-one-associated-with-pancreatic-neuroendocrine-tumor-a-rare-manifestation
#6
Aydilek Dağdeviren Çakır, Hande Turan, Ayça Aykut, Asude Durmaz, Oya Ercan, Olcay Evliyaoğlu
(VHL) disease is an autosomal dominantly inherited disorder characterized by hemangioblastomas of retina and central nervous system (CNS); renal cysts, clear cell carcinoma; PCC; endolymphatic sac tumors; cystadenomas of the epididymis in males, broad ligament of uterus in females; pancreatic cysts, cystadenomas and neuroendocrine tumors. We here report two cases of VHL disease presented with PCC as the first manifestation. Hemangioblastoma of CNS in the first case and PNET in the second case developed during follow- up and led to the diagnosis of VHL disease...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29021226/attenuation-of-accelerated-renal-cystogenesis-in-pkd1-mice-by-renin-angiotensin-system-blockade
#7
Wayne R Fitzgibbon, Yujing Dang, Marlene A Bunni, Catalin F Baicu, Michael R Zile, Adam E Mullick, Takamitsu Saigusa
BACKGROUND: The intrarenal renin angiotensin system (RAS) is activated in polycystic kidney disease. We have recently shown in the Pkd1 mouse that Gen 2 antisense oligonucleotide (ASO), which suppresses angiotensinogen (Agt) synthesis, is efficacious in slowing kidney cyst formation compared to lisinopril. The aim of this current study was to determine 1) if unilateral nephrectomy accelerates cystogenesis in Pkd1 mice (as previously shown in cilia knockout mice), and 2) whether Agt ASO can slow the progression in this accelerated cystic mouse model...
October 11, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29019896/the-efficacy-of-retroperitoneal-laparoscopic-deroofing-of-simple-renal-cyst-with-perirenal-fat-tissue-wadding-technique-a-retrospective-study
#8
Shicong Lai, Xin Xu, Tongxiang Diao, Binbin Jiao, Zhaoqiang Jiang, Guan Zhang
Treatment options for simple renal cyst (SRC) include open surgery, laparoscopy with decortication, or percutaneous aspiration with or without sclerotherapy. Though laparoscopic unroofing achieves better results than percutaneous sclerotherapy, the reported recurrence rate is still up to 19%. Thus, it is necessary to find methods to reduce the recurrence rate.To investigate whether the perirenal pedicled fat tissue wadding technique during retroperitoneal laproscopic deroofing (RLD) of SRC affects the incidence of recurrence...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28993480/mitochondrial-abnormality-facilitates-cyst-formation-in-autosomal-dominant-polycystic-kidney-disease
#9
Yu Ishimoto, Reiko Inagi, Daisuke Yoshihara, Masanori Kugita, Shizuko Nagao, Akira Shimizu, Norihiko Takeda, Masaki Wake, Kenjiro Honda, Jing Zhou, Masaomi Nangaku
Autosomal dominant polycystic kidney disease (ADPKD) constitutes the most common inherited kidney disease. Mutations in the PKD1 and PKD2 genes, encoding respective polycystin-1 and polycystin-2 Ca(2+) ion channels, results in tubular epithelial cell-derived renal cysts. Recent clinical studies demonstrate oxidative stress as present early in ADPKD. Mitochondria comprise the primary reactive oxygen species source and also their main effector target; however, the pathophysiological role of mitochondria in ADPKD remains uncharacterized...
October 9, 2017: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28993351/haematuria-in-adpkd-not-always-benign-be-aware
#10
Manav Agarwal, Ashok Kumar Sokhal, Manoj Kumar, Sunny Goel
Haematuria in patients with autosomal dominant polycystic kidney disease (ADPKD) is a very common manifestation. The cause of haematuria is often benign with the most common cause being haemorrhage within the renal cyst. But haematuria may also be caused by a coincident malignancy, the diagnosis of which may be missed if not investigated thoroughly. Herein, we present a case of ADPKD who presented to us with haematuria and was later found to have bladder cancer.
October 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28992279/targeting-new-cellular-disease-pathways-in-autosomal-dominant-polycystic-kidney-disease
#11
Ming-Yang Chang, Albert C M Ong
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage renal failure. Understanding the molecular and cellular pathogenesis of ADPKD could help to identify new targets for treatment. The classic cellular cystic phenotype includes changes in proliferation, apoptosis, fluid secretion, extracellular matrix and cilia function. Hoever, recent research, suggests that the cellular cystic phenotype could be broader and that changes, such as altered metabolism, autophagy, inflammation, oxidative stress and epigenetic modification, could play important roles in the processes of cyst initiation, cyst growth or disease progression...
August 29, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28989174/new-treatment-paradigms-for-adpkd-moving-towards-precision-medicine
#12
REVIEW
Matthew B Lanktree, Arlene B Chapman
The natural history of autosomal dominant polycystic kidney disease (ADPKD) is characterized by a variable rate of cyst development and increase in total kidney volume (TKV), variable kidney function decline and age of onset of end-stage renal disease (ESRD), and variable presentation of renal and extrarenal manifestations. Precision medicine is proposed to improve patient outcomes by tailoring therapy to the specific genetic background, pathophysiology, disease burden, prognosis and status of each individual...
October 9, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28981362/the-abcs-of-bhd-an-in-depth-review-of-birt-hogg-dub%C3%A3-syndrome
#13
Shiva Gupta, Hyunseon C Kang, Dhakshinamoorthy Ganeshan, Ajaykumar Morani, Rabindra Gautam, Peter L Choyke, Vikas Kundra
OBJECTIVE: Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant inherited syndrome involving multiple organs. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma (RCC), hybrid chromophobe RCC-oncocytomas, clear cell RCC, and papillary RCC, can suggest BHD syndrome. Extrarenal findings, including dermal lesions, pulmonary cysts, and spontaneous pneumothoraces, also aid in diagnosis. CONCLUSION: Radiologists may be one of the first medical specialists to suggest the diagnosis of BHD syndrome...
October 5, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28981360/malignancy-rate-histologic-grade-and-progression-of-bosniak-category-iii-and-iv-complex-renal-cystic-lesions
#14
Pedro N Mousessian, Fernando I Yamauchi, Thais C Mussi, Ronaldo H Baroni
OBJECTIVE: The primary purpose of this study is to determine the malignancy rate, histologic grade, and initial stage of surgically treated complex renal cysts classified as Bosniak category III or IV. For nonsurgical lesions, a secondary objective was to evaluate lesion progression on follow-up examinations. MATERIALS AND METHODS: We searched our database for cystic lesions classified as Bosniak III or IV category on CT or MRI from January 2008 to April 2016. Surgically resected lesions, per category, were correlated with information on pathologic reports to obtain malignancy rates...
October 5, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28979012/focal-dermal-hypoplasia-goltz-syndrome-a-cross-sectional-study-from-eastern-india
#15
Sudip Kumar Ghosh, Abhijit Dutta, Sharmila Sarkar, Shanka Subhra Nag, Surajit Kumar Biswas, Prabhakar Mandal
INTRODUCTION: Focal dermal hypoplasia (Goltz syndrome), is an extremely rare genetic disorder characterized by distinct skin manifestations and a wide range of abnormalities involving the ocular, dental, skeletal, urinary, gastrointestinal, cardiovascular, and central nervous systems. The objective of the present series is to emphasize the different typical as well as unusual features of this rare syndrome. METHOLOGY: This cross-sectional observational study was performed over a period of 8 years in a tertiary care hospital of Eastern India...
September 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28978585/beyond-polycystic-kidney-disease
#16
Susana Franco Santos, Telma Francisco, Ana Isabel Cordeiro, Maria João Paiva Lopes
Tuberous sclerosis(TS) is an autosomal dominant disease caused by mutations in TSC1 and TSC2 genes. TSC2 gene is located in chromosome 16p13.3, adjacent to PKD1 gene, responsible for the autosomal dominant polycystic kidney disease. In a rare subgroup of patients, the presence of a deletion which simultaneously affects the TSC2 and PKD1 genes has been confirmed. TSC2/PKD1-Contiguous Gene Syndrome is characterised by the early appearance of autosomal dominant polycystic kidney disease in combination with several phenotypic manifestations of TS...
October 4, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28977104/association-between-renal-cysts-and-abdominal-aortic-aneurysm-a-case-control-study
#17
Hélio Miguel de Azevêdo Bião Veiga, Leandro José Correia da Silva, Carlos Henrique Suzuki Bellucci, Marcus Vinicius Miranda Dos Santos, Ricardo Brianezi Tiraboschi, Victor Pereira Paschoalin, Lucas Borba, Cristiano Mendes Gomes, José Murillo Bastos-Netto, José de Bessa
OBJECTIVE: To investigate the positive association between the presence of simple renal cysts (SRCs) and abdominal aortic aneurysm (AAA). METHOD: In a retrospective case-control study including subjects aged > 50 years, we evaluated the incidence of SRCs on computed tomography (CT) scan. We compared 91 consecutive patients with AAA referred from the Division of Vascular Surgery and 396 patients without AAA, randomly selected after being matched by age and gender from 3,186 consecutive patients who underwent abdominal CT...
August 2017: Revista da Associação Médica Brasileira
https://www.readbyqxmd.com/read/28941915/natural-history-of-complex-renal-cysts-clinical-evidence-supporting-active-surveillance
#18
Thenappan Chandrasekar, Ardalan E Ahmad, Kamel Fadaak, Kartik Jhaveri, Jaimin R Bhatt, Michael A S Jewett, Antonio Finelli
PURPOSE: To evaluate intervention rates, progression and cancer-specific survival outcomes of patients with complex renal cysts in a single center experience. MATERIALS AND METHODS: A radiology data-mining system (Montage; Montage Healthcare Systems, Philadelphia, PA, USA) was used to retrospectively identify all reported cases of "complex renal cyst" in our institution (2001-2013). Primary end points were overall (OS) and cancer specific survival (CSS). Secondary endpoints included radiographic progression and upgrading, clinical progression, and final histology on surgical pathology...
September 20, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28941301/cystatin-c-predicts-acute-kidney-injury-and-mortality-in-cirrhotics-a-prospective-cohort-study
#19
Rakhi Maiwall, Awinash Kumar, Ankit Bhardwaj, Guresh Kumar, Ajeet S Bhadoria, Shiv K Sarin
BACKGROUND & AIMS: Acute kidney injury is a frequent and ominous complication in cirrhosis. An episode of AKI damages the functional nephron mass, compromising the renal functional reserve. We aimed to study the incidence of AKI, probability of subsequent episodes, whether AKI itself predisposes to future AKI and the reliability of serum cystatin C(sCyC) as a biomarker in a prospective cohort of cirrhotics. PATIENTS AND METHODS: Five hundred and thirty-one cirrhotics without ongoing AKI were followed for development/resolution of AKI...
September 23, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28940454/choledochal-cyst-with-17q12-chromosomal-duplication
#20
Radana Kotalova, Petra Dusatkova, Jana Drabova, Lenka Elblova, Tomas Dedic, Ondrej Cinek, Jan Lebl, Stepanka Pruhova
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 duplication spanning 1698 kb that included 24 genes from TBC1D3C to HNF1B. The boy presented with cholestatic jaundice at the age of 2 weeks due to a choledochal cyst sized 15 ×12 mm (type Ia according to the Todani classification). He underwent a shunt surgery consisting of a hepaticojejunostomy using Roux-en-Y loop at the age of 2 months, which led to a permanent relief of cholestasis...
September 22, 2017: Annals of Human Genetics
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