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Renal genetics

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https://www.readbyqxmd.com/read/29217931/hyper-parathyroidisim-jaw-tumor-syndrome-a-rare-condition-of-incongruous-features
#1
Manchil P Redwin Dhas, Kannan S Karthiga, Joy E Tatu, Sherubin J Eugenia
Background: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing both a germline and a somatic CDC73 mutation (formerly known as HRPT2), which has been mapped to chromosome 1q25-q31. The association of jaw ossifying fibroma with primary hyperparathyroidisim (PHPT) is typical of HPT-JT. It may also include cystic and neoplastic renal abnormalities and uterine tumors. Case Details: Here, we report a case of HPT-JT with an initial presentation of declination in reproductive fitness...
May 2017: Ethiopian Journal of Health Sciences
https://www.readbyqxmd.com/read/29216528/triple-primary-malignancies-in-a-patient-with-colorectal-adenocarcinoma-a-case-report
#2
Qunsheng Huang, Xin He, Huabo Qin, Xinjuan Fan, Minghao Xie, Lei Lian
INTRODUCTION: While colorectal carcinoma is one of the most commonly diagnosed malignancies, its synchronous occurrence with other primary malignancies is rare. PRESENTATION OF CASE: In this case, we describe the diagnosis and surgical intervention of a 55-year-old male patient who was found to have colonic adenocarcinoma at the hepatic flexure, right renal urothelial carcinoma, and malignant mesothelioma. DISCUSSION: None of the previous studies reported these three distinct types of cancer, even in those patients with Lynch Syndrome...
December 1, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29215813/kidney-transplantation-in-patients-with-atypical-hemolytic-uremic-syndrome-due-to-complement-factor-h-deficiency-impact-of-liver-transplantation
#3
Sejin Kim, Eujin Park, Sang Il Min, Nam Joon Yi, Jongwon Ha, Il Soo Ha, Hae Il Cheong, Hee Gyung Kang
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a rare disease that is often associated with genetic defects. Mutations of complement factor H (CFH) are the most common genetic defects that cause aHUS and often result in end-stage renal disease. Since CFH is mainly produced in the liver, liver transplantation (LT) has been performed in patients with defective CFH. METHODS: The clinical courses of four kidney allograft recipients who lost their native kidney functions due to aHUS associated with a CFH mutation were reviewed...
January 1, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29211853/nrf2-deficiency-upregulates-intrarenal-angiotensin-converting-enzyme-2-and-angiotensin-1-7-receptor-expression-and-attenuates-hypertension-and-nephropathy-in-diabetic-mice
#4
Shuiling Zhao, Anindya Ghosh, Chao-Sheng Lo, Isabelle Chenier, James W Scholey, Janos G Filep, Julie R Ingelfinger, Shao-Ling Zhang, John S D Chan
We investigated the role of nuclear factor erythroid 2-related factor 2 (Nrf2) in renin-angiotensin system (RAS) gene expression in renal proximal tubule cells (RPTCs) and in the development of systemic hypertension and kidney injury in diabetic Akita mice. We used adult male Akita Nrf2 knockout (KO) mice and Akita mice treated with trigonelline (an Nrf2 inhibitor) or oltipraz (an Nrf2 activator). We also examined immortalized rat RPTCs (IRPTCs) stably transfected with control plasmids or plasmids containing rat angiotensinogen (Agt), angiotensin-converting enzyme (ACE), angiotensin-converting enzyme-2 (Ace2) or angiotensin 1-7 receptor (MasR) gene promoters...
December 1, 2017: Endocrinology
https://www.readbyqxmd.com/read/29209494/rnai-mechanisms-in-huntington-s-disease-therapy-sirna-versus-shrna
#5
REVIEW
Sebastian Aguiar, Bram van der Gaag, Francesco Albert Bosco Cortese
Huntington's Disease (HD) is a genetically dominant trinucleotide repeat disorder resulting from CAG repeats within the Huntingtin (HTT) gene exceeding a normal range (> 36 CAGs). Symptoms of the disease manifest in middle age and include chorea, dystonia, and cognitive decline. Typical latency from diagnosis to death is 20 years. There are currently no disease-modifying therapies available to HD patients. RNAi is a potentially curative therapy for HD. A popular line of research employs siRNA or antisense oligonucleotides (ASO) to knock down mutant Huntingtin mRNA (mHTT)...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/29208768/caspase-independent-programmed-cell-death-triggers-ca2po4-deposition-in-an-in-vitro-model-of-nephrocalcinosis
#6
Giovanna Priante, Federica Quaggio, Lisa Gianesello, Monica Ceol, Rosalba Cristofaro, Liliana Terrin, Claudio Furlan, Dorella Del Prete, Franca Anglani
Nephrocalcinosis involves the deposition of microscopic crystals in the tubular lumen or interstitium. While the clinical, biochemical and genetic aspects of the diseases causing nephrocalcinosis have been elucidated, little is known about the cellular events in this calcification process. We previously reported a phenomenon involving the spontaneous formation of Ca2PO4 nodules in primary papillary renal cells from a patient with medullary nephrocalcinosis harboring a rare GDNF gene variant. We also demonstrated that cultivating GDNF -silenced HK-2 cells in osteogenic conditions for 15 days triggered Ca2PO4 deposits...
December 5, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29208248/kidney-diseases-associated-with-alternative-complement-pathway-dysregulation-and-potential-treatment-options
#7
REVIEW
Prateek Sanghera, Mythili Ghanta, Fatih Ozay, Venkatesh K Ariyamuthu, Bekir Tanriover
Atypical hemolytic uremic syndrome and C3 glomerulopathy (dense deposit disease and C3 glomerulonephritis) are characterized as inappropriate activation of the alternative complement pathway. Genetic mutations affecting the alternative complement pathway regulating proteins (complement factor H, I, membrane cofactor protein and complement factor H-related proteins) and triggers (such as infection, surgery, pregnancy and autoimmune disease flares) result in the clinical manifestation of these diseases. A decade ago, prognosis of these disease states was quite poor, with most patients developing end-stage renal disease...
December 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/29207740/risk-factors-for-kidney-stones-in-rural-puducherry-case-control-study
#8
Amol R Dongre, M Rajalakshmi, Pradeep R Deshmukh, M R Thirunavukarasu, Ravi Kumar
Introduction: Renal stone is a distressing chronic condition which is getting common across the world. The rigorous evidence on multiple risk factors of kidney stone from a single study is limited. Aim: To find out the social and dietary risk factors responsible for the occurrence of kidney stone in a local community in rural Puducherry, India. Materials and Methods: It was a hospital-based unmatched case-control study. Based on existing information, a sample of 70 cases and 140 controls was calculated and considered adequate...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207668/genetic-or-pharmacologic-inhibition-of-egfr-ameliorates-sepsis-induced-aki
#9
Xuan Xu, Juan Wang, Ruhao Yang, Zheng Dong, Dongshan Zhang
Despite recent studies have demonstrated that the EGF receptor (EGFR) activation provided a renoprotective role during ischemic and folic acid-induced AKI, the role and regulation mechanism of EGFR in septic AKI remains unclear. Here, gefitinib, a highly selective EGFR inhibitor, abrogated LPS-induced phosphorylation of EGFR, ERK1/2, and STAT3 as well as expression of COX, eNOS, and proinflammatory cytokines in HK-2 cells. In addition, c-Src is an upstream of EGFR signaling pathway and mediates LPS-induced EGFR transactivation...
October 31, 2017: Oncotarget
https://www.readbyqxmd.com/read/29205998/diabetic-nephropathy-in-type-1-diabetes
#10
Nektaria Papadopoulou-Marketou, Stavroula A Paschou, Nikolaos Marketos, Sofia Adamidi, Sotiris Adamidis, Christina Kanaka-Gantenbein
Diabetic nephropathy (DN) also named diabetic kidney disease (DN) is one of the leading causes of mortality in people with diabetes. The aim of this review is to update the medical literature, the theories behind its early natural history, the pathways of its pathogenesis, its diagnosis and treatment. Poor glycemic control, hyperlipidemia, smoking, oxidative stress, accumulation of advanced glycated end products, environmental, genetic and epigenetic factors play an important role in the pathophysiological development of DN...
December 4, 2017: Minerva Medica
https://www.readbyqxmd.com/read/29204651/whole-exome-sequencing-in-adults-with-chronic-kidney-disease-a-pilot-study
#11
Sneh Lata, Maddalena Marasa, Yifu Li, David A Fasel, Emily Groopman, Vaidehi Jobanputra, Hila Rasouly, Adele Mitrotti, Rik Westland, Miguel Verbitsky, Jordan Nestor, Lindsey M Slater, Vivette D'Agati, Marcin Zaniew, Anna Materna-Kiryluk, Francesca Lugani, Gianluca Caridi, Luca Rampoldi, Aditya Mattoo, Chad A Newton, Maya K Rao, Jai Radhakrishnan, Wooin Ahn, Pietro A Canetta, Andrew S Bomback, Gerald B Appel, Corinne Antignac, Glen S Markowitz, Christine K Garcia, Krzysztof Kiryluk, Simone Sanna-Cherchi, Ali G Gharavi
Background: The utility of whole-exome sequencing (WES) for the diagnosis and management of adult-onset constitutional disorders has not been adequately studied. Genetic diagnostics may be advantageous in adults with chronic kidney disease (CKD), in whom the cause of kidney failure often remains unknown. Objective: To study the diagnostic utility of WES in a selected referral population of adults with CKD. Design: Observational cohort. Setting: A major academic medical center...
December 5, 2017: Annals of Internal Medicine
https://www.readbyqxmd.com/read/29202871/mesenchymal-stem-cell-derived-extracellular-vesicles-for-kidney-repair-current-status-and-looming-challenges
#12
REVIEW
Arash Aghajani Nargesi, Lilach O Lerman, Alfonso Eirin
Novel therapies are urgently needed to address the rising incidence and prevalence of acute kidney injury (AKI) and chronic kidney disease (CKD). Mesenchymal stem/stromal cells (MSCs) have shown promising results in experimental AKI and CKD, and have been used in the clinic for more than a decade with an excellent safety profile. The regenerative effects of MSCs do not rely on their differentiation and ability to replace damaged tissues, but are primarily mediated by the paracrine release of factors, including extracellular vesicles (EVs), composed of microvesicles and exosomes...
December 4, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#13
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
December 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29198962/-type%C3%A2-1-primary%C3%A2-hyperoxaluria-from%C3%A2-childhood-to%C3%A2-adult-how-to%C3%A2-manage-adequately-medical-therapy-compliance
#14
Marie Leflot, Jean-Marie Krzesinski, Laure Collard, Alexandre Thomas, Marie-Sophie Ghuysen
We report the cases of three young patients suffering from type 1 primary hyperoxaluria, a metabolic genetic disorder characterized by intracellular accumulation of oxalate and which may result in end-stage renal disease with systemic impairment. A number of effective conservative therapeutic means are available for early management of affected children particularly when he is growing older. Despite the demonstrated efficacy of conservative therapy, compliance represents a major and daily challenge. Monitoring therapeutic compliance is thus an important task for physicians in charge of this disease...
November 29, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/29198537/healthcare-utilization-and-comorbidities-associated-with-anorectal-malformations-in-the-united-states
#15
Karlo Kovacic, Sravan R Matta, Katja Kovacic, Casey Calkins, Ke Yan, Manu R Sood
OBJECTIVE: To determine nationwide prevalence and healthcare utilization in children with anorectal malformations and associated anomalies over a 6-year period. STUDY DESIGN: We used the Kids' Inpatient Database for the years 2006, 2009, and 2012 for data collection. International Classification of Diseases, Ninth Revision codes were used to identify patients with anorectal malformations and associated anomalies. RESULTS: A total of 2396 children <2 years of age with anorectal malformations were identified using weighted analysis; 54...
November 30, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29197384/involvement-of-the-bone-morphogenic-protein-smad-signaling-pathway-in-the-etiology-of-congenital-anomalies-of-the-kidney-and-urinary-tract-accompanied-by-cryptorchidism
#16
Kentaro Mizuno, Akihiro Nakane, Hidenori Nishio, Yoshinobu Moritoki, Hideyuki Kamisawa, Satoshi Kurokawa, Taiki Kato, Ryosuke Ando, Tetsuji Maruyama, Takahiro Yasui, Yutaro Hayashi
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT), such as renal dysplasia, hydronephrosis, or vesicoureteral reflux, are the most common causes of end-stage renal disease. However, the genetic etiology of CAKUT remains unclear. In this study, we performed whole exome sequencing (WES) to elucidate the genetic etiology of symptomatic CAKUT and CAKUT accompanied by cryptorchidism. METHODS: Three patients with unilateral renal dysplasia accompanied by ipsilateral cryptorchidism were included in this analysis...
December 2, 2017: BMC Urology
https://www.readbyqxmd.com/read/29196930/association-of-alox12-gene-polymorphism-with-all-cause-and-cardiovascular-mortality-in-diabetic-nephropathy
#17
Athanasios K Roumeliotis, Stefanos K Roumeliotis, Stylianos A Panagoutsos, Fotis Tsetsos, Marianthi Georgitsi, Vangelis Manolopoulos, Peristera Paschou, Ploumis S Passadakis
PURPOSE: Cardiovascular (CV) events are the first cause of death in patients with chronic renal disease (CKD) and in patients with type 2 diabetes mellitus (DM2). The combination of CKD and DM2 elevates the risk of both cardiovascular disease (CVD) and death in this high-risk population. Besides traditional risk factors, such as dyslipidemia, smoking, obesity, and carotid atherosclerosis, novel factors are under investigation such as genetic polymorphisms. Lipoxygenases (LOXs) and their genes are of critical importance in oxidative stress, inflammation, and atherosclerosis...
December 1, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/29194709/low-grade-spindle-cell-proliferation-in-clear-cell-renal-cell-carcinoma-is-unlikely-to-be-an-initial-step-in-sarcomatoid-differentiation
#18
Ozlem Tanas Isikci, Huying He, Petr Grossmann, Reza Alaghehbandan, Monika Ulamec, Kvetoslava Michalova, Kristyna Pivovarcikova, Delia Perez Montiel, Ondrej Ondic, Ondrej Daum, Kristyna Prochazkova, Milan Hora, Michal Michal, Ondrej Hes
Spindle cell proliferation within clear cell renal cell carcinoma (ccRCC) is usually considered as sarcomatoid differentiation. Low-grade spindle cell proliferation (LG-SCP) in ccRCC was first described in 2001. This phenomenon is not common and can pose diagnostic challenges particularly in core biopsies. The aim of this study was to describe morphologic, immunohistochemical and molecular characteristics of ccRCCs with LG-SCP. 11 cases of ccRCC with LG-SCP were retrieved from approximately 21,000 renal tumors in our registry...
December 1, 2017: Histopathology
https://www.readbyqxmd.com/read/29194071/revisiting-the-phenotypic-and-genetic-profiling-of-anergic-t-cells-mediating-long-term-transplant-tolerance
#19
Sylvaine You, Lucienne Chatenoud
PURPOSE OF REVIEW: Herein our focus will be to revisit peripheral tolerance mechanisms and in particular 'active' or 'dominant' tolerance as originally defined and mediated by regulatory CD4FoxP3 T lymphocytes (Treg) and also T-cell anergy that appears as a major mainstay to support long-term allograft survival. RECENT FINDINGS: It is at the same time interesting and rewarding that the tool that recently guided our efforts along this path is the in-vivo use of CD3 antibody, the first monoclonal introduced in the clinic (Orthoclone OKT3) about 35 years ago to treat and prevent rejection of renal allografts...
November 30, 2017: Current Opinion in Organ Transplantation
https://www.readbyqxmd.com/read/29190833/lupus-nephritis-progression-in-fc%C3%AE-riib-yaa-mice-is-associated-with-early-development-of-glomerular-electron-dense-deposits-and-loss-of-renal-dnase-i-in-severe-disease
#20
Kjersti Daae Horvei, Hege Lynum Pedersen, Silje Fismen, Dhivya Thiyagarajan, Andrea Schneider, Ole Petter Rekvig, Thomas H Winkler, Natalya Seredkina
FcγRIIB-/-yaa mice develop severe lupus glomerulonephritis due to lack of an inhibitory immune cell receptor combined with a Y-chromosome linked autoimmune accelerator mutation. In the present study, we have investigated nephritis development and progression in FcγRIIB-/-yaa mice to find shared features with NZB/NZW F1 lupus prone mice and human disease. We sacrificed 25 male FcγRIIB-/-yaa mice at various disease stages, and grouped them according to activity and chronicity indices for lupus nephritis. Glomerular morphology and localization of electron dense deposits containing IgG were further determined by immune electron microscopy...
2017: PloS One
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