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https://www.readbyqxmd.com/read/28771254/multiplex-epithelium-dysfunction-due-to-cldn10-mutation-the-helix-syndrome
#1
Smail Hadj-Rabia, Gaelle Brideau, Yasser Al-Sarraj, Rachid C Maroun, Marie-Lucile Figueres, Stéphanie Leclerc-Mercier, Eric Olinger, Stéphanie Baron, Catherine Chaussain, Dominique Nochy, Rowaida Z Taha, Bertrand Knebelmann, Vandana Joshi, Patrick A Curmi, Marios Kambouris, Rosa Vargas-Poussou, Christine Bodemer, Olivier Devuyst, Pascal Houillier Md PhD, Hatem El-Shanti
PurposeWe aimed to identify the genetic cause to a clinical syndrome encompassing hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia (HELIX syndrome), and to comprehensively delineate the phenotype.MethodsWe performed homozygosity mapping, whole-genome sequencing, gene sequencing, expression studies, functional tests, protein bioinformatics, and histological characterization in two unrelated families with HELIX syndrome.ResultsWe identified biallelic missense mutations (c...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28767550/impact-of-long-term-intravitreal-anti-vascular-endothelial-growth-factor-on-preexisting-microstructural-alterations-in-diabetic-macular-edema
#2
Magdalena A Wirth, Juliana Wons, Florentina J Freiberg, Matthias D Becker, Stephan Michels
PURPOSE: Evaluation of the influence of long-term intravitreal anti-vascular endothelial growth factor treatment on preexisting retinal microstructural alterations in patients with diabetic macular edema. METHODS: Eyes with diabetic macular edema and a history of ≥ 20 intravitreal anti-vascular endothelial growth factor (aflibercept and/or ranibizumab) injections were included in this retrospective study. Primary outcome was the extent of disorganization of retinal inner layers, alterations at the outer plexiform layer/Henle fiber layer junction, disruption of external limiting membrane/ellipsoid zone, disruption of retinal pigment epithelium/Bruch complex, and retinal atrophy at baseline versus after ≥ 20 intravitreal injections as visualized by spectral-domain optical coherence tomography images...
August 1, 2017: Retina
https://www.readbyqxmd.com/read/28760814/sall1-nurd-interaction-regulates-multipotent-nephron-progenitors-and-is-required-for-loop-of-henle-formation
#3
Jeannine M Basta, Lynn Robbins, Darcy R Denner, Grant R Kolar, Michael Rauchman
The formation of the proper number of nephrons requires a tightly regulated balance between renal progenitor cell self-renewal and differentiation. The molecular pathways that regulate the transition from renal progenitor to renal vesicle are not well understood. Here we show that Sall1interacts with the Nucleosome Remodeling and Deacetylase Complex (NuRD) to inhibit premature differentiation of nephron progenitor cells. Disruption of Sall1-NuRD in vivo in knock-in mice (ΔSRM) resulted in accelerated differentiation of nephron progenitors and bilateral renal hypoplasia...
July 31, 2017: Development
https://www.readbyqxmd.com/read/28744897/furosemide-suppresses-ileal-and-colonic-contractility-via-interactions-with-gaba-a-receptor-in-mice
#4
Kannaree Kaewsaro, Suphap Nuanplub, Sara Bumrungsri, Pissared Khuituan
The loop diuretic furosemide has an action to inhibit Na(+) -K(+) -2Cl(-) co-transporter at the thick ascending limb of Henle's loop resulting in diuresis. Furosemide also has the non-diuretic effects by binding to GABA-A receptor which may involve the gastrointestinal tract. The aim of this study was to investigate the effects of furosemide on smooth muscle contractions in mice ileum and proximal colon. Each intestinal segment suspended in an organ bath was connected to a force transducer. Signal output of mechanical activity was amplified and recorded for analysis using PowerLab(®) System...
July 26, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28739647/compensatory-distal-reabsorption-drives-diuretic-resistance-in-human-heart-failure
#5
Veena S Rao, Noah Planavsky, Jennifer S Hanberg, Tariq Ahmad, Meredith A Brisco-Bacik, Francis P Wilson, Daniel Jacoby, Michael Chen, W H Wilson Tang, David Z I Cherney, David H Ellison, Jeffrey M Testani
Understanding the tubular location of diuretic resistance (DR) in heart failure (HF) is critical to developing targeted treatment strategies. Rodents chronically administered loop diuretics develop DR due to compensatory distal tubular sodium reabsorption, but whether this translates to human DR is unknown. We studied consecutive patients with HF (n=128) receiving treatment with loop diuretics at the Yale Transitional Care Center. We measured the fractional excretion of lithium (FELi), the gold standard for in vivo assessment of proximal tubular and loop of Henle sodium handling, to assess sodium exit after loop diuretic administration and FENa to assess the net sodium excreted into the urine...
July 24, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28662032/renal-localization-and-regulation-by-dietary-phosphate-of-the-mct14-orphan-transporter
#6
Thomas Knöpfel, Alexander Atanassoff, Nati Hernando, Jürg Biber, Carsten A Wagner
MCT14 is an orphan transporter belonging to the SLC16 transporter family mediating the transport of monocarboxylates, aromatic amino acids, creatine, and thyroid hormones. The expression, tissue localization, regulation, and function of MCT14 are unknown. In mouse MCT14 mRNA abundance is highest in kidney. Using a newly developed and validated antibody, MCT14 was localized to the luminal membrane of the thick ascending limb of the loop of Henle colocalizing in the same cells with uromodulin and NKCC2. MCT14 mRNA and protein was found to be highly regulated by dietary phosphate intake in mice being increased by high dietary phosphate intake at both mRNA and protein level...
2017: PloS One
https://www.readbyqxmd.com/read/28643308/-anatomical-strategies-of-henle-trunk-in-laparoscopic-right-hemi-colectomy-for-right-colon-cancer
#7
Bo Feng, Xialin Yan, Sen Zhang, Pei Xue, Zirui He, Minhua Zheng
The advancement of laparoscopic surgery serves as a trigger for better understanding of the vascular structure at the inferior border of the pancreas, especially Henle trunk. Henle trunk was first found as convergence to superior mesenteric vein (SMV) conjoined by sub-right colon vein (SRCV) and right gastroepiploic vein (RGEV), but decades later, anterior superior pancreatic duodenal vein (ASPDV) was described as another conjoint vein of Henle trunk. These tributaries are the basic elements of Henle trunk in early years' study...
June 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28623232/the-ring-finger-and-pdz-domain-containing-protein-pdzrn3-controls-localization-of-the-mg-2-regulator-claudin-16-in-renal-tube-epithelial-cells
#8
Kana Marunaka, Chisa Furukawa, Naoko Fujii, Toru Kimura, Takumi Furuta, Toshiyuki Matsunaga, Satoshi Endo, Hajime Hasegawa, Naohiko Anzai, Yasuhiro Yamazaki, Masahiko Yamaguchi, Akira Ikari
Ion exchange in the renal tubules is fundamental to the maintenance of physiological ion levels. Claudin-16 (CLDN16) regulates the paracellular reabsorption of Mg(2+) in the thick ascending limb of Henle's loop in the kidney, with dephosphorylation of CLDN16 increasing its intracellular distribution and decreasing paracellular Mg(2+) permeability. CLDN16 is located in the tight junctions, but the mechanism regulating its localization is unclear. Using yeast two-hybrid systems, we found that CLDN16 binds to PDZRN3, a protein containing both RING-finger and PDZ domains...
August 4, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28617689/paracellular-transport-and-energy-utilization-in-the-renal-tubule
#9
Alan S L Yu
PURPOSE OF REVIEW: Paracellular transport across the tight junction is a general mechanism for transepithelial transport of solutes in epithelia, including the renal tubule. However, why paracellular transport evolved, given the existence of a highly versatile system for transcellular transport, is unknown. RECENT FINDINGS: Recent studies have identified the paracellular channel, claudin-2, that is responsible for paracellular reabsorption of sodium in the proximal renal tubule...
September 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28614118/the-renal-response-to-potassium-stress-integrating-past-with-present
#10
Cary R Boyd-Shiwarski, Arohan R Subramanya
PURPOSE OF REVIEW: The current review combines past findings with recent advances in our understanding of the homeostatic response to potassium imbalance. RECENT FINDINGS: Following the ingestion of a dietary potassium load, a combination of extrarenal and renal mechanisms act to maintain extracellular K+ within a tight window. Through hormonal regulation and direct K+ sensing, the nephron is ideally suited to respond to wide shifts in external K+ balance. Current evidence indicates that dietary K+ loading triggers a coordinated kaliuretic response that appears to involve voltage-dependent changes in sodium transport across multiple nephron segments, including the proximal tubule, medullary loop of Henle, and distal tubule...
September 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28598867/pathophysiology-of-antenatal-bartter-s-syndrome
#11
Martin Kömhoff, Kamel Laghmani
PURPOSE OF REVIEW: Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic. RECENT FINDINGS: In aBS, severe salt losing is further aggravated by defective salt sensing in the macula densa, where a reduced tubular salt concentration is perceived and glomerular filtration is increased instead of decreased...
September 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28597847/mapping-the-fine-structure-of-cortical-activity-with-different-micro-ecog-electrode-array-geometries
#12
Xi Wang, Alexis Gkogkidis, Olga Iljina, Lukas Fiederer, Chiristian Henle, Irina Mader, Jan Kaminsky, Thomas Stieglitz, Mortimer Gierthmuehlen, Tonio Ball
OBJECTIVE: Innovations in micro-electrocorticography (µECoG) electrode array manufacturing now allow for intricate designs with smaller contact diameters and/or pitch (i.e., center-to-center contact distance) down to the sub-mm range. The aims of the present study were: (i) to investigate whether frequency ranges up to 400 Hz can be reproducibly observed in µECoG recordings and (ii) to examine how differences in topographical substructure between these frequency bands and electrode array geometries can be quantified...
June 9, 2017: Journal of Neural Engineering
https://www.readbyqxmd.com/read/28596736/claudin-loss-of-function-disrupts-tight-junctions-and-impairs-amelogenesis
#13
Claire Bardet, Sandy Ribes, Yong Wu, Mamadou Tidiane Diallo, Benjamin Salmon, Tilman Breiderhoff, Pascal Houillier, Dominik Müller, Catherine Chaussain
Claudins are a family of proteins that forms paracellular barriers and pores determining tight junctions (TJ) permeability. Claudin-16 and -19 are pore forming TJ proteins allowing calcium and magnesium reabsorption in the thick ascending limb of Henle's loop (TAL). Loss-of-function mutations in the encoding genes, initially identified to cause Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis (FHHNC), were recently shown to be also involved in Amelogenesis Imperfecta (AI). In addition, both claudins were expressed in the murine tooth germ and Claudin-16 knockout (KO) mice displayed abnormal enamel formation...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28589390/-unloading-with-insoles-orthotics-and-braces-pre-operative-leg-axis-correction-or-independent-treatment
#14
REVIEW
M Kess, C Stärke, P Henle
BACKGROUND: Knee osteoarthritis (OA) is a leading joint disease. In most of the early stages it does not involve the whole knee joint. Often, symptoms only or mainly concern the medial compartment combined with a slight varus malalignment. OBJECTIVES: Do valgus braces or laterally wedged insoles influence biomechanics and thus improve pain and function in patients with medial OA? Does the OA grade, severity of malalignment or patient's body weight predict the efficacy of the above-mentioned conservative treatment options? MATERIALS AND METHODS: The current literature was reviewed in regard to biomechanical changes to joint loading and their correlation to clinical results...
June 6, 2017: Der Orthopäde
https://www.readbyqxmd.com/read/28579836/update-on-the-renal-toxicity-of-iodinated-contrast-drugs-used-in-clinical-medicine
#15
REVIEW
Michele Andreucci, Teresa Faga, Raffaele Serra, Giovambattista De Sarro, Ashour Michael
An important side effect of diagnostic contrast drugs is contrast-induced acute kidney injury (CI-AKI; a sudden decrease in renal function) occurring 48-72 hours after injection of a contrast drug that cannot be attributed to other causes. Its existence has recently been challenged, because of some retrospective studies in which the incidence of AKI was not different between subjects who received a contrast drug and those who did not, even using propensity score matching to prevent selection bias. For some authors, only patients with estimated glomerular filtration rate <30 mL/min/1...
2017: Drug, Healthcare and Patient Safety
https://www.readbyqxmd.com/read/28523340/patient-and-surgical-characteristics-that-affect-revision-risk-in-dynamic-intraligamentary-stabilization-of-the-anterior-cruciate-ligament
#16
Philipp Henle, Kathrin S Bieri, Manuel Brand, Emin Aghayev, Jessica Bettfuehr, Janosch Haeberli, Martina Kess, Stefan Eggli
PURPOSE: Failure of dynamic intraligamentary stabilization (DIS) that requires revision surgery of the anterior cruciate ligament (ACL) has not been studied. The aim of this study was to investigate the incidence of revision ACL surgery, and the patient characteristics and surgery-related factors that are associated with an increased risk of ACL revision after DIS. METHODS: This study analysed a prospective, consecutively documented single-centre case series using standardized case report forms over a 2...
May 18, 2017: Knee Surgery, Sports Traumatology, Arthroscopy: Official Journal of the ESSKA
https://www.readbyqxmd.com/read/28462928/erratum-setting-temporal-baselines-for-biodiversity-the-limits-of-available-monitoring-data-for-capturing-the-full-impact-of-anthropogenic-pressures
#17
Jean-Baptiste Mihoub, Klaus Henle, Nicolas Titeux, Lluís Brotons, Neil A Brummitt, Dirk S Schmeller
No abstract text is available yet for this article.
May 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28457645/toxicological-and-thermoregulatory-effects-of-feather-contamination-with-artificially-weathered-mc-252-oil-in-western-sandpipers-calidris-mauri
#18
Ivan Maggini, Lisa V Kennedy, Steven J Bursian, Karen M Dean, Alexander R Gerson, Kendal E Harr, Jane E Link, Chris A Pritsos, Karen L Pritsos, Christopher G Guglielmo
The external contamination of bird feathers with crude oil might have effects on feather structure and thus on thermoregulation. We tested the thermoregulatory ability of western sandpipers (Calidris mauri) in a respirometry chamber with oil applied either immediately prior, or three days before the experiment. The birds were then exposed to a sliding cold temperature challenge between 27°C and -3°C to calculate thermal conductance. After the experiment, a large blood sample was taken and the liver extracted to measure a range of parameters linked to toxicology and oxidative stress...
April 27, 2017: Ecotoxicology and Environmental Safety
https://www.readbyqxmd.com/read/28437467/mutant-uromodulin-expression-leads-to-altered-homeostasis-of-the-endoplasmic-reticulum-and-activates-the-unfolded-protein-response
#19
Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi
Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease. Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD), characterised by hyperuricemia, gout and progressive loss of renal function. While the primary effect of UMOD mutations, retention in the endoplasmic reticulum (ER), is well established, its downstream effects are still largely unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28428858/genetic-diversity-and-spatial-structure-of-the-rufous-throated-antbird-gymnopithys-rufigula-an-amazonian-obligate-army-ant-follower
#20
Juliana Menger, Klaus Henle, William E Magnusson, Antonella Soro, Martin Husemann, Martin Schlegel
Amazonian understory antbirds are thought to be relatively sedentary and to have limited dispersal ability; they avoid crossing forest gaps, and even narrow roads through a forest may limit their territories. However, most evidence for sedentariness in antbirds comes from field observations and plot-based recapture of adult individuals, which do not provide evidence for lack of genetic dispersal, as this often occurs through juveniles. In this study, we used microsatellite markers and mitochondrial control-region sequences to investigate contemporary and infer historical patterns of genetic diversity and structure of the Rufous-throated Antbird (Gymnopithys rufigula) within and between two large reserves in central Amazonia...
April 2017: Ecology and Evolution
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