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https://www.readbyqxmd.com/read/29773874/mutations-in-six-nephrosis-genes-delineate-a-pathogenic-pathway-amenable-to-treatment
#1
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate...
May 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29758562/clinical-relevance-of-systematic-phenotyping-and-exome-sequencing-in-patients-with-short-stature
#2
Nadine N Hauer, Bernt Popp, Eva Schoeller, Sarah Schuhmann, Karen E Heath, Alfonso Hisado-Oliva, Patricia Klinger, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Erdmute Kunstmann, Dagmar Wieczorek, Steffen Uebe, Fulvia Ferrazzi, Christian Büttner, Arif B Ekici, Anita Rauch, Heinrich Sticht, Helmuth-Günther Dörr, André Reis, Christian T Thiel
PurposeShort stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity.MethodsWe systematically phenotyped 565 patients where common nongenetic causes of short stature were excluded, selected 200 representative patients for whole-exome sequencing, and analyzed the identified variants for pathogenicity and the affected genes regarding their functional relevance for growth.ResultsBy standard targeted diagnostic and phenotype assessment, we identified a known disease cause in only 13...
October 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29742776/magnet-assisted-diverticuloplasty-for-treatment-of-zenker-s-diverticulum
#3
Liansong Ye, Hongze Zeng, Shuifang Wang, Jingsun Jiang, Hong Tang, Chuanhui Li, Bing Hu
No abstract text is available yet for this article.
May 9, 2018: Endoscopy
https://www.readbyqxmd.com/read/29742690/zenker-diverticulum-experience-in-surgical-treatment-of-large-diverticula
#4
Renata Tabola, Andrzej Lewandowski, Roberto Cirocchi, Katarzyna Augoff, Urszula Kozminska, Bartłomiej Strzelec, Krzysztof Grabowski
The purpose of this retrospective study is to show that transcervical diverticulectomy (TD) in treatment of Zenker diverticulum (ZD) can still be a first choice procedure in selected patients and in experienced hands its safety might be compared to the minimally invasive endoscopic diverticulostomy.The study cohort consisted of 44 patients (18 male, 26 female) operated for (ZD). All the patients underwent open diverticulectomy. The decision to choose open surgical repair depended on surgical risk, age of the patient, size of the diverticular septum (the distance between the top of the diverticulum and its bottom on barium study), and patient's preference...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29740363/hypothesis-testing-demands-trustworthy-data-a-simulation-approach-to-inferential-statistics-advocating-the-research-program-strategy
#5
Antonia Krefeld-Schwalb, Erich H Witte, Frank Zenker
In psychology as elsewhere, the main statistical inference strategy to establish empirical effects is null-hypothesis significance testing (NHST). The recent failure to replicate allegedly well-established NHST-results, however, implies that such results lack sufficient statistical power, and thus feature unacceptably high error-rates. Using data-simulation to estimate the error-rates of NHST-results, we advocate the research program strategy (RPS) as a superior methodology. RPS integrates Frequentist with Bayesian inference elements, and leads from a preliminary discovery against a (random) H 0 -hypothesis to a statistical H 1 -verification...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29734338/rit1-controls-actin-dynamics-via-complex-formation-with-rac1-cdc42-and-pak1
#6
Uta Meyer Zum Büschenfelde, Laura Isabel Brandenstein, Leonie von Elsner, Kristina Flato, Tess Holling, Martin Zenker, Georg Rosenberger, Kerstin Kutsche
RIT1 belongs to the RAS family of small GTPases. Germline and somatic RIT1 mutations have been identified in Noonan syndrome (NS) and cancer, respectively. By using heterologous expression systems and purified recombinant proteins, we identified the p21-activated kinase 1 (PAK1) as novel direct effector of RIT1. We found RIT1 also to directly interact with the RHO GTPases CDC42 and RAC1, both of which are crucial regulators of actin dynamics upstream of PAK1. These interactions are independent of the guanine nucleotide bound to RIT1...
May 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29733017/zenker-diverticulum-treatment-endoscopic-or-surgical
#7
Diana Ciuc, Rodica Birlă, Eugenia Panaitescu, Marcel Tanţău, Silviu Constantinoiu
Introduction: The Zenker Diverticulum is a rare pathology, the selection of patients for invasive treatments is questionable, as well as the applied therapeutic method. The aim of the study is to evaluate the main methods of classical and endoscopic surgical treatment in this pathology and to correlate pathophysiological aspects with clinical consequences. MATERIAL AND METHOD: We included 36 patients with Zenker hypopharyngeal diverticulum treated in 2010/2017 in two university clinics: 7 patients by classical surgical approach at the General and Esophageal Surgery Clinic of St...
March 2018: Chirurgia
https://www.readbyqxmd.com/read/29726737/delayed-diagnosis-of-a-case-of-zenker-s-diverticulum-what-may-happen-when-a-family-physician-does-not-visit-his-family-physician
#8
Zekeriya Akturk, Ali Bilal Ulas, Atila Eroglu
INTRODUCTION: Zenker's diverticulum is a diverticulum of the mucosa of the pharynx, just above the cricopharyngeal muscle. It occurs commonly in elderly patients (over 70 years) and the typical symptoms include dysphagia, regurgitation, chronic cough, aspiration and weight loss. CASE: We are reporting dysphagia in a 49-years old man who was treated as having Helicobacter Pylori gastritis for three years. Being a family physician himself, the patient applied to specialists in gastroenterology, bypassing primary care...
December 2018: European Journal of General Practice
https://www.readbyqxmd.com/read/29721088/imaging-myeloid-precursor-immortalization-and-genome-editing-for-defining-mechanisms-of-leukocyte-recruitment-in-vivo
#9
Sandra Gran, Lisa Honold, Olesja Fehler, Stefanie Zenker, Sarah Eligehausen, Michael T Kuhlmann, Edwin Geven, Martijn van den Bosch, Peter van Lent, Christoph Spiekermann, Sven Hermann, Thomas Vogl, Michael Schäfers, Johannes Roth
Recruitment of leukocytes from the blood to sites of inflammation poses a promising target for new diagnostic and therapeutic approaches. We aimed to develop a novel method to non-invasively analyze molecular mechanisms of leukocyte migration in pre-clinical models of inflammation in vivo . Methods: We used the ER-HoxB8 system to transiently immortalize murine myeloid precursors from wildtype and CD18- as well as MRP14-deficient mice. A VLA4α-/- cell line was generated by CRISPR/Cas9-mediated gene editing...
2018: Theranostics
https://www.readbyqxmd.com/read/29690551/electrically-and-thermally-conductive-low-density-polyethylene-based-nanocomposites-reinforced-by-mwcnt-or-hybrid-mwcnt-graphene-nanoplatelets-with-improved-thermo-oxidative-stability
#10
Sandra Paszkiewicz, Anna Szymczyk, Daria Pawlikowska, Jan Subocz, Marek Zenker, Roman Masztak
In this paper, the electrical and thermal conductivity and morphological behavior of low density polyethylene (LDPE)/multi-walled carbon nanotubes (MWCNTs) + graphene nanoplatelets (GNPs) hybrid nanocomposites (HNCs) have been studied. The distribution of MWCNTs and the hybrid of MWCNTs/GNPs within the polymer matrix has been investigated with scanning electron microscopy (SEM). The results showed that the thermal and electrical conductivity of the LDPE-based nanocomposites increased along with the increasing content of carbon nanofillers...
April 22, 2018: Nanomaterials
https://www.readbyqxmd.com/read/29677506/attractin-attention-to-early-mouse-development
#11
Tristan Frum, Amy Ralston
A new study by Zenker et al. uses time-lapse imaging to discover how dynamic actin movements contribute to epithelialization of living mouse embryos. Together with work from other labs, this study presents exciting new ways to think about the emergence of cell fates during mammalian development.
April 19, 2018: Cell
https://www.readbyqxmd.com/read/29677053/safety-profile-of-baroreflex-activation-therapy-neo-in-patients-with-resistant-hypertension
#12
Manuel Wallbach, Enrico Böhning, Luca-Yves Lehnig, Charlotte Schroer, Gerhard Anton Müller, Rolf Wachter, Stephan Lüders, Dieter Zenker, Michael Johann Koziolek
OBJECTIVE: Unlike safety data of baroreflex activation therapy device (Rheos), only few data of the currently used second device (Barostim neo) are available and little is reported about common side effects. METHODS: We prospectively analyzed patients with resistant hypertension treated with Barostim neo. A standardized interview regarding side effects of the therapy was performed in routine follow-up visits after device implantation in 42 patients to determine adverse events staged into three degrees...
April 19, 2018: Journal of Hypertension
https://www.readbyqxmd.com/read/29675866/endoscopic-needle-knife-treatment-for-symptomatic-esophageal-zenker-s-diverticulum-a-meta-analysis-and-systematic-review
#13
Lian Yong Li, Yong Tao Yang, Chang Min Qu, Shu Wen Liang, Chang Qing Zhong, Xiao Ying Wang, Yan Chen, Robert M Spandorfer, Sarah Christofaro, Qiang Cai
OBJECTIVE: The aim of this study was to assess the efficacy and safety following endoscopic management of Zenker's diverticulum (ZD) using a needle-knife technique. METHODS: A systematic search of PubMed, Embase and Cochrane library databases was performed. All original studies reporting efficacy and safety of needle-knife technique for treatment of ZD were included. Pooled event rates across studies were expressed with summative statistics. Main outcomes, such as rates of immediate symptomatic response (ISR), adverse events and recurrence, were extracted, pooled and analyzed...
April 19, 2018: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/29621364/a-child-s-complaint-of-throat-freeze-not-brain-freeze-and-experiences-with-zenker-diverticulum
#14
Douglas J Wiebe
No abstract text is available yet for this article.
April 5, 2018: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/29616239/cricopharyngeal-myotomy-with-thulium-laser-through-flexible-endoscopy-proof-of-concept-study
#15
Stefano Siboni, Alberto Aiolfi, Chiara Ceriani, Gian Eugenio Tontini, Luigi Bonavina
Background and study aims : Endoscopic treatment of Zenker's diverticulum has proven feasible, but electrocautery and CO 2 laser technology carry the risk of collateral thermal injury. Thulium laser septum incision may overcome this limitation. We describe for the first time the use of thulium laser through flexible endoscopy in a small cohort of patients with Zenker diverticulum. Patients and methods : Thulium laser septum division was performed via flexible endoscopy under general anesthesia in consecutive symptomatic patients with primary or recurrent Zenker diverticulum...
April 2018: Endoscopy International Open
https://www.readbyqxmd.com/read/29611822/autoinhibitory-regulation-of-s100a8-s100a9-alarmin-activity-locally-restricts-sterile-inflammation
#16
Thomas Vogl, Athanasios Stratis, Viktor Wixler, Tom Völler, Sumita Thurainayagam, Selina K Jorch, Stefanie Zenker, Alena Dreiling, Deblina Chakraborty, Mareike Fröhling, Peter Paruzel, Corinna Wehmeyer, Sven Hermann, Olympia Papantonopoulou, Christiane Geyer, Karin Loser, Michael Schäfers, Stephan Ludwig, Monika Stoll, Tomas Leanderson, Joachim L Schultze, Simone König, Thomas Pap, Johannes Roth
Autoimmune diseases, such as psoriasis and arthritis, show a patchy distribution of inflammation despite systemic dysregulation of adaptive immunity. Thus, additional tissue-derived signals, such as danger-associated molecular patterns (DAMPs), are indispensable for manifestation of local inflammation. S100A8/S100A9 complexes are the most abundant DAMPs in many autoimmune diseases. However, regulatory mechanisms locally restricting DAMP activities are barely understood. We now unravel for the first time, to our knowledge, a mechanism of autoinhibition in mice and humans restricting S100-DAMP activity to local sites of inflammation...
April 3, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29576449/expanding-actin-rings-zipper-the-mouse-embryo-for-blastocyst-formation
#17
Jennifer Zenker, Melanie D White, Maxime Gasnier, Yanina D Alvarez, Hui Yi Grace Lim, Stephanie Bissiere, Maté Biro, Nicolas Plachta
Transformation from morula to blastocyst is a defining event of preimplantation embryo development. During this transition, the embryo must establish a paracellular permeability barrier to enable expansion of the blastocyst cavity. Here, using live imaging of mouse embryos, we reveal an actin-zippering mechanism driving this embryo sealing. Preceding blastocyst stage, a cortical F-actin ring assembles at the apical pole of the embryo's outer cells. The ring structure forms when cortical actin flows encounter a network of polar microtubules that exclude F-actin...
March 7, 2018: Cell
https://www.readbyqxmd.com/read/29566908/action-and-function-of-chromobacterium-violaceum-in-health-and-disease-violacein-as-a-promising-metabolite-to-counteract-gastroenterological-diseases
#18
REVIEW
Giselle Zenker Justo, Nelson Durán
Chromobacterium violaceum is a Gram negative, β-proteobacterium found in the microbiota of tropical and subtropical environments. Although considered an opportunistic pathogen, infection rapidly progress to fatal sepsis, with metastatic abscesses. It is noteworthy the multidrug resistant phenotype of C. violaceum and the possibility of relapse. Recently, an influence of global climate in the incidence of cases beyond the previous areas has been observed. Furthermore, chronic granulomatous disease has been considered a risk factor to infection...
December 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/29554409/co-2-laser-assisted-diverticulotomy-remains-an-effective-and-safe-method-for-treating-zenker-diverticulum
#19
Mazin Merdad, Nitin Bhatia, Elie E Rebeiz
Our objectives were to review our experience with laser-assisted diverticulotomy (LAD) in the treatment of Zenker diverticulum (ZD) and compare our results with those in published literature on other endoscopic and surgical techniques. We conducted a retrospective chart review of 57 patients who underwent LAD treatment of ZD in a single tertiary care institution. Data on surgical complications, length of stay, and follow-up were collected. Age ranged from 56 to 89 years. Endoscopic exposure of the diverticulum was not possible in 2 patients...
March 2018: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/29513687/generation-of-functional-cardiomyocytes-from-rat-embryonic-and-induced-pluripotent-stem-cells-using-feeder-free-expansion-and-differentiation-in-suspension-culture
#20
Julia Dahlmann, George Awad, Carsten Dolny, Sönke Weinert, Karin Richter, Klaus-Dieter Fischer, Thomas Munsch, Volkmar Leßmann, Marianne Volleth, Martin Zenker, Yaoyao Chen, Claudia Merkl, Angelika Schnieke, Hassina Baraki, Ingo Kutschka, George Kensah
The possibility to generate cardiomyocytes from pluripotent stem cells in vitro has enormous significance for basic research, disease modeling, drug development and heart repair. The concept of heart muscle reconstruction has been studied and optimized in the rat model using rat primary cardiovascular cells or xenogeneic pluripotent stem cell derived-cardiomyocytes for years. However, the lack of rat pluripotent stem cells (rPSCs) and their cardiovascular derivatives prevented the establishment of an authentic clinically relevant syngeneic or allogeneic rat heart regeneration model...
2018: PloS One
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