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https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#1
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28409340/drosophila-malpighian-tubules-a-model-for-understanding-kidney-development-function-and-disease
#2
Naveen Kumar Gautam, Puja Verma, Madhu G Tapadia
The Malpighian tubules of insects are structurally simple but functionally important organs, and their integrity is important for the normal excretory process. They are functional analogs of human kidneys which are important physiological organs as they maintain water and electrolyte balance in the blood and simultaneously help the body to get rid of waste and toxic products after various metabolic activities. In addition, it receives early indications of insults to the body such as immune challenge and other toxic components and is essential for sustaining life...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28404591/intravital-imaging-of-the-kidney-in-a-rat-model-of-salt-sensitive-hypertension
#3
Bradley T Endres, Ruben M Sandoval, George J Rhodes, Silvia B Campos-Bilderback, Malgorzata M Kamocka, Christopher McDermott-Roe, Alexander Staruschenko, Bruce A Molitoris, Aron M Geurts, Oleg Palygin
Hypertension is one of the most prevalent diseases worldwide, and a major risk factor for renal failure and cardiovascular disease. The role of albuminuria, a common feature of hypertension and robust predictor of cardiorenal disorders, remains incompletely understood. The goal of this study was to investigate the mechanisms leading to albuminuria in the kidney of a rat model of hypertension, the Dahl salt-sensitive (SS) rat. To determine the relative contributions of the glomerulus and proximal tubule (PT) to albuminuria, we applied intravital two-photon-based imaging to investigate the complex renal physiological changes that occur during salt-induced hypertension...
April 12, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28365214/in-vivo-localization-of-the-neuronal-ceroid-lipofuscinosis-proteins-cln3-and-cln7-at-endogenous-expression-levels
#4
Alamin Mohammed, Megan B O'Hare, Alice Warley, Guy Tear, Richard I Tuxworth
The neuronal ceroid lipofuscinoses are a group of recessively inherited, childhood-onset neurodegenerative conditions. Several forms are caused by mutations in genes encoding putative lysosomal membrane proteins. Studies of the cell biology underpinning these disorders are hampered by the poor antigenicity of the membrane proteins, which makes visualization of the endogenous proteins difficult. We have used Drosophila to generate knock-in YFP-fusions for two of the NCL membrane proteins: CLN7 and CLN3. The YFP-fusions are expressed at endogenous levels and the proteins can be visualized live without the need for overexpression...
March 29, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28341694/mineralocorticoid-receptor-and-nacl-transport-mechanisms-in-the-renal-distal-nephron
#5
Shigeru Shibata
A key role of aldosterone and mineralocorticoid receptor is to regulate fluid volume and K+ homeostasis in the body by acting on the renal distal nephron. Global responses of the kidney to elevated aldosterone levels are determined by the coordinate action of different constituent tubule cells, including principal cells, intercalated cells, and distal convoluted tubule cells. Recent studies on genetic mutations causing aldosterone overproduction have identified molecules involved in aldosterone biosynthesis in the adrenal gland, and there is also increasing evidence for mechanisms and signaling pathways regulating the balance between renal NaCl reabsorption and K+ secretion, the two major effects of aldosterone...
March 24, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28339935/nephrotoxicity-of-anticancer-treatment
#6
Jolanta Malyszko, Klaudia Kozlowska, Leszek Kozlowski, Jacek Malyszko
Severe adverse systemic drug events occur commonly as a result of treatment of cancer patients. Nephrotoxicity of chemotherapeutic agents remains a significant complication limiting the efficacy of the treatment. A variety of renal disease and electrolyte disorders can result from the drugs that are used to treat malignant disease. The kidneys are a major elimination pathway for many antineoplastic drugs and their metabolites. Tumour lysis syndrome, an emergency in haematooncology, occurs most often after the initiation of cytotoxic therapy in patients with high-grade lymphomas and acute lymphoblastic leukaemia...
October 6, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339861/constitutive-luteinizing-hormone-receptor-signaling-causes-sexual-dysfunction-and-leydig-cell-adenomas-in-male-mice1
#7
Lan Hai, Deepak S Hiremath, Marilène Paquet, Prema Narayan
The luteinizing hormone receptor (LHCGR) is necessary for fertility and genetic mutations cause defects in reproductive development and function. Activating mutations in LHCGR cause familial male limited precocious puberty (FMPP). We have previously characterized a mouse model (KiLHRD582G) for FMPP that exhibits the same phenotype of precocious puberty, Leydig cell hyperplasia and elevated testosterone as boys with the disorder. We observed that KiLHRD582G male mice became infertile by 6 months of age although sperm count and motility were normal...
February 17, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/28296922/the-potential-role-of-osteopontin-in-the-maintenance-of-commensal-bacteria-homeostasis-in-the-intestine
#8
Koyu Ito, Akira Nakajima, Yuji Fukushima, Keiichiro Suzuki, Keiko Sakamoto, Yoko Hamazaki, Kouetsu Ogasawara, Nagahiro Minato, Masakazu Hattori
Osteopontin (Opn), a multifunctional extracellular matrix protein, is implicated in the pathogenesis of various inflammatory disorders. Under physiologic conditions, its expression is restricted to certain tissues including bone and kidney tubule. However, cellular activation during disease development induces Opn expression in various immune cells. In this study, using Opn-EGFP knock-in (KI) mice we found that CD8α+ T cells in the intestinal tissues, including Peyer's patch, lamina propria and epithelium, express Opn under steady state conditions...
2017: PloS One
https://www.readbyqxmd.com/read/28288491/effect-of-traditional-treatment-of-diabetes-mellitus-with-xanthosoma-sagittifolium-on-the-male-reproductive-system-of-alloxan-induced-diabetic-wistar-rats
#9
Olayinka A Oridupa, Oluyemisi F Folasire, Adedotun J Owolabi, Oluwasanmi Aina
The management of diabetes mellitus (DM) targets glycemic control as well as prevention or reversal of other complications associated with the metabolic disorder. One of such complications is the infertility which has been traced to oxidative stress and DNA damage caused by DM. In this study, experimentally-induced diabetic male Wistar rats were fed with Xanthosoma sagittifolium (cocoyam) for 14 days and its effect on sperm morphology and characteristics, as well as histology of the testes were assessed. X...
March 13, 2017: Drug Research
https://www.readbyqxmd.com/read/28288174/poor-phenotype-genotype-association-in-a-large-series-of-patients-with-type-iii-bartter-syndrome
#10
Alejandro García Castaño, Gustavo Pérez de Nanclares, Leire Madariaga, Mireia Aguirre, Álvaro Madrid, Sara Chocrón, Inmaculada Nadal, Mercedes Navarro, Elena Lucas, Julia Fijo, Mar Espino, Zilac Espitaletta, Víctor García Nieto, David Barajas de Frutos, Reyner Loza, Guillem Pintos, Luis Castaño, Gema Ariceta
INTRODUCTION: Type III Bartter syndrome (BS) is an autosomal recessive renal tubule disorder caused by loss-of-function mutations in the CLCNKB gene, which encodes the chloride channel protein ClC-Kb. In this study, we carried out a complete clinical and genetic characterization in a cohort of 30 patients, one of the largest series described. By comparing with other published populations, and considering that 80% of our patients presented the p.Ala204Thr Spanish founder mutation presumably associated with a common phenotype, we aimed to test the hypothesis that allelic differences could explain the wide phenotypic variability observed in patients with type III BS...
2017: PloS One
https://www.readbyqxmd.com/read/28252422/sorption-correction-of-nephron-sub-microscopic-changes-caused-by-neoplastic-chronic-intoxication-with-the-application-of-cytostatic-therapy
#11
Yu Soroka, N Lisnychuk, I Demkiv, O Oleshchuk
The electron microscopic changes of the nephron structural components under conditions of dimethylhydrazine (DMH)-induced carcinogenesis with the development of colorectal adenocarcinoma in situ were evaluated. Destructive changes in epitheliocytes of proximal and distal tubules of the nephron, microcirculation disturbances in renal corpuscles and tubular structure are evidences of disorder in urine formation stages. Аdministration of cytostatics aggravates the degree of destructive changes in the kidney. The application of carbon enterosorbent of IV generation "Carboline" for chronic neoplastic endotoxemia correction in combination with chemotherapy components significantly reduces the structural changes of the cortical substance of the kidneys, activates processes of reparative regeneration...
January 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28241054/manchette-acrosome-disorders-during-spermiogenesis-and-low-efficiency-of-seminiferous-tubules-in-hypercholesterolemic-rabbit-model
#12
Layla Simón, Abi K Funes, Martín A Yapur, María E Cabrillana, María A Monclus, Paola V Boarelli, Amanda E Vincenti, Tania E Saez Lancellotti, Miguel W Fornés
Hypercholesterolemia is a marker for several adult chronic diseases. Recently we demonstrated that sub/infertility is also associated to Hypercholesterolemia in rabbits. Seminal alterations included: abnormal sperm morphology, decreased sperm number and declined percentage of motile sperm, among others. In this work, our objective was to evaluate the effects of hypercholesterolemia on testicular efficiency and spermiogenesis, as the latter are directly related to sperm number and morphology respectively. Tubular efficiency was determined by comparing total number of spermatogenic cells with each cell type within the proliferation/differentiation compartments...
2017: PloS One
https://www.readbyqxmd.com/read/28238023/speech-acts-during-friends-and-non-friends-spontaneous-conversations-in-preschool-dyads-with-high-functioning-autism-spectrum-disorder-versus-typical-development
#13
Nirit Bauminger-Zviely, Adi Golan-Itshaky, Gila Tubul-Lavy
In this study, we videotaped two 10-min. free-play interactions and coded speech acts (SAs) in peer talk of 51 preschoolers (21 ASD, 30 typical), interacting with friend versus non-friend partners. Groups were matched for maternal education, IQ (verbal/nonverbal), and CA. We compared SAs by group (ASD/typical), by partner's friendship status (friend/non-friend), and by partner's disability status. Main results yielded a higher amount and diversity of SAs in the typical than the ASD group (mainly in assertive acts, organizational devices, object-dubbing, and pretend-play); yet, those categories, among others, showed better performance with friends versus non-friends...
May 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28225373/outer-retinal-tubulation-a-case-series
#14
Leticia A Rousso, Julie A Rodman, Brad Sutton, Diana L Shechtman
PURPOSE: The advent of spectral domain optical coherence tomography has led to superb imaging capabilities in addition to enhanced visualization of the retinal layers. Such advancements have led to the identification of a variety of new retinal conditions, including outer retinal tubulations (ORTs). ORTs are ovoid hyporeflective spaces located in the outer retina. The pathogenesis is unclear but seems to involve sublethal injury to the photoreceptors leading to a compensatory reorganization of the photoreceptor layer with the neighboring ellipsoid zone resulting in a hyperreflective border surrounding a central lumen...
March 2017: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/28142151/novel-amh-and-amhr2-mutations-in-two-egyptian-families-with-persistent-m%C3%A3-llerian-duct-syndrome
#15
Inas Mazen, Mona El-Gammal, Ken McElreavey, Aya Elaidy, Mohamed S Abdel-Hamid
Anti-müllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of müllerian ducts during fetal male sex differentiation. Mutations in AMH and AMHR2 lead to the persistence of müllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
https://www.readbyqxmd.com/read/28132691/de-novo-disruption-of-the-proteasome-regulatory-subunit-psmd12-causes-a-syndromic-neurodevelopmental-disorder
#16
Sébastien Küry, Thomas Besnard, Frédéric Ebstein, Tahir N Khan, Tomasz Gambin, Jessica Douglas, Carlos A Bacino, Stephan J Sanders, Andrea Lehmann, Xénia Latypova, Kamal Khan, Mathilde Pacault, Stephanie Sacharow, Kimberly Glaser, Eric Bieth, Laurence Perrin-Sabourin, Marie-Line Jacquemont, Megan T Cho, Elizabeth Roeder, Anne-Sophie Denommé-Pichon, Kristin G Monaghan, Bo Yuan, Fan Xia, Sylvain Simon, Dominique Bonneau, Philippe Parent, Brigitte Gilbert-Dussardier, Sylvie Odent, Annick Toutain, Laurent Pasquier, Deborah Barbouth, Chad A Shaw, Ankita Patel, Janice L Smith, Weimin Bi, Sébastien Schmitt, Wallid Deb, Mathilde Nizon, Sandra Mercier, Marie Vincent, Caroline Rooryck, Valérie Malan, Ignacio Briceño, Alberto Gómez, Kimberly M Nugent, James B Gibson, Benjamin Cogné, James R Lupski, Holly A F Stessman, Evan E Eichler, Kyle Retterer, Yaping Yang, Richard Redon, Nicholas Katsanis, Jill A Rosenfeld, Peter-Michael Kloetzel, Christelle Golzio, Stéphane Bézieau, Paweł Stankiewicz, Bertrand Isidor
Degradation of proteins by the ubiquitin-proteasome system (UPS) is an essential biological process in the development of eukaryotic organisms. Dysregulation of this mechanism leads to numerous human neurodegenerative or neurodevelopmental disorders. Through a multi-center collaboration, we identified six de novo genomic deletions and four de novo point mutations involving PSMD12, encoding the non-ATPase subunit PSMD12 (aka RPN5) of the 19S regulator of 26S proteasome complex, in unrelated individuals with intellectual disability, congenital malformations, ophthalmologic anomalies, feeding difficulties, deafness, and subtle dysmorphic facial features...
February 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#17
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28003191/calcineurin-inhibitor-cyclosporine-a-activates-renal-na-k-cl-cotransporters-via-local-and-systemic-mechanisms
#18
K I Blankenstein, A Borschewski, R Labes, A Paliege, C Boldt, J A McCormick, D H Ellison, M Bader, S Bachmann, K Mutig
Calcineurin dephosphorylates nuclear factor of activated T cells transcription factors, thereby facilitating T cell-mediated immune responses. Calcineurin inhibitors are instrumental for immunosuppression after organ transplantation but may cause side effects, including hypertension and electrolyte disorders. Kidneys were recently shown to display activation of the furosemide-sensitive Na-K-2Cl cotransporter (NKCC2) of the thick ascending limb and the thiazide-sensitive Na-Cl cotransporter (NCC) of the distal convoluted tubule upon calcineurin inhibition using cyclosporin A (CsA)...
March 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27991910/establishment-and-characterization-of-bhd-f59rsvt-an-immortalized-cell-line-derived-from-a-renal-cell-carcinoma-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome
#19
Mitsuko Furuya, Hisashi Hasumi, Masaya Baba, Reiko Tanaka, Yasuhiro Iribe, Takahiro Onishi, Yoji Nagashima, Yukio Nakatani, Yasuhiro Isono, Masahiro Yao
Hereditary renal cell carcinomas (RCCs) are life-threatening disorders not only for the patients but also for their relatives. Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). The protein product, FLCN, functions as a tumor suppressor, and the affected patients have high risks of developing multiple RCCs. The carcinogenic mechanisms stemming from FLCN dysfunction have been investigated using rodent models and human RCC tissues. However, very limited information has been available about in vitro signaling of human renal cells with genetically mutant FLCN...
December 19, 2016: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/27991862/fluorescent-aminoglycosides-reveal-intracellular-trafficking-routes-in-mechanosensory-hair-cells
#20
Dale W Hailey, Robert Esterberg, Tor H Linbo, Edwin W Rubel, David W Raible
Aminoglycosides (AGs) are broad-spectrum antibiotics that are associated with kidney damage, balance disorders, and permanent hearing loss. This damage occurs primarily by killing of proximal tubule kidney cells and mechanosensory hair cells, though the mechanisms underlying cell death are not clear. Imaging molecules of interest in living cells can elucidate how molecules enter cells, traverse intracellular compartments, and interact with sites of activity. Here, we have imaged fluorescently labeled AGs in live zebrafish mechanosensory hair cells...
February 1, 2017: Journal of Clinical Investigation
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