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https://www.readbyqxmd.com/read/29127259/whole-exome-sequencing-of-patients-with-steroid-resistant-nephrotic-syndrome
#1
Jillian K Warejko, Weizhen Tan, Ankana Daga, David Schapiro, Jennifer A Lawson, Shirlee Shril, Svjetlana Lovric, Shazia Ashraf, Jia Rao, Tobias Hermle, Tilman Jobst-Schwan, Eugen Widmeier, Amar J Majmundar, Ronen Schneider, Heon Yung Gee, J Magdalena Schmidt, Asaf Vivante, Amelie T van der Ven, Hadas Ityel, Jing Chen, Carolin E Sadowski, Stefan Kohl, Werner L Pabst, Makiko Nakayama, Michael J G Somers, Nancy M Rodig, Ghaleb Daouk, Michelle Baum, Deborah R Stein, Michael A Ferguson, Avram Z Traum, Neveen A Soliman, Jameela A Kari, Sherif El Desoky, Hanan Fathy, Martin Zenker, Sevcan A Bakkaloglu, Dominik Müller, Aytul Noyan, Fatih Ozaltin, Melissa A Cadnapaphornchai, Seema Hashmi, Jeffrey Hopcian, Jeffrey B Kopp, Nadine Benador, Detlef Bockenhauer, Radovan Bogdanovic, Nataša Stajić, Gil Chernin, Robert Ettenger, Henry Fehrenbach, Markus Kemper, Reyner Loza Munarriz, Ludmila Podracka, Rainer Büscher, Erkin Serdaroglu, Velibor Tasic, Shrikant Mane, Richard P Lifton, Daniela A Braun, Friedhelm Hildebrandt
BACKGROUND AND OBJECTIVES: Steroid-resistant nephrotic syndrome overwhelmingly progresses to ESRD. More than 30 monogenic genes have been identified to cause steroid-resistant nephrotic syndrome. We previously detected causative mutations using targeted panel sequencing in 30% of patients with steroid-resistant nephrotic syndrome. Panel sequencing has a number of limitations when compared with whole exome sequencing. We employed whole exome sequencing to detect monogenic causes of steroid-resistant nephrotic syndrome in an international cohort of 300 families...
November 10, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29093582/-efficacy-and-safety-of-the-endoscopic-management-of-zenker-diverticulum-with-it-knife-2-device
#2
Laura Tenorio, Fernando Palacios
OBJECTIVE: To evaluate the efficacy and safety of the endoscopic management of Zenker Diverticulum with IT-Knife 2 device. MATERIALS AND METHODS: prospective and multicenter study (Edgardo Rebagliati Martins National Hospital and Golf Clinic). We included all patients with sintomatic Zenker Diverticulum that were treated with endoscopic cricopharyngeal miotomy from september 2013 until august 2016. TECHNIQUE: the diverticulum septum was faced with a cap, and then it was cut by the IT-Knife 2 (ENDOCUT Q, effect 3-2-5) until its baseline...
July 2017: Revista de Gastroenterología del Perú: órgano Oficial de la Sociedad de Gastroenterología del Perú
https://www.readbyqxmd.com/read/29056128/successful-treatment-of-zenker-s-diverticulum-by-endoscopic-staple-assisted-diverticulotomy-in-a-75-year-saudi-female
#3
Mohiyuddin A Q Ali, Sultan O Al-Harthy
Zenker's diverticulum (hypopharyngeal pouch) is a rare medical entity caused by herniation of esophageal mucosa and submucosa through an anatomical defect between the layers of the inferior constrictor muscle. It is believed that this occurs mainly due to incoordination between the stages of swallowing and timely opening of the cricopharyngeus. It usually affects the elderly and patients usually present with dysphagia, regurgitation of food, halitosis and aspiration. We describe one case of Zenker's diverticulum in a 75-year Saudi female whom we successfully managed in Ear Nose Throat (ENT) department, North West Armed Forces Hospital, Tabuk, Saudi Arabia by endoscopic staple-assisted diverticulotomy resulting in successful division of the intervening septum between the diverticulum and the esophagus...
October 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29051055/skeletal-impairment-in-pierson-syndrome-is-there-a-role-for-laminin%C3%AE-2-in-bone-physiology
#4
Camille Beaufils, Delphine Farlay, Irma Machuca-Gayet, Alice Fassier, Martin Zenker, Caroline Freychet, Edith Bonnelye, Aurélia Bertholet-Thomas, Bruno Ranchin, Justine Bacchetta
INTRODUCTION: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin β2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described. METHODS: We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome...
October 16, 2017: Bone
https://www.readbyqxmd.com/read/29040483/results-of-surgical-treatment-of-cervical-esophageal-diverticula
#5
M Fraczek, A Karwowski, M Krawczyk, P M Paczkowski, B Pawlak, C Pszenny
On the basis of 20 years' experience, the authors present the immediate and long-term results of operative treatment of Zenker's diverticulum. Comparison of two methods of surgery - diverticulopexia (in 21 patients) and excision (in 16), both associated with upper esophageal sphincter myotomy - shows good immediate and longterm results (from 1 to 19 years), with disappearance of symptoms (dysphagia) in all patients. There was no perioperative mortality. Postoperative complications were most commonly of pulmonary origin and were observed in a third of patients in both groups...
November 1, 2017: Diseases of the Esophagus: Official Journal of the International Society for Diseases of the Esophagus
https://www.readbyqxmd.com/read/29028862/alternatives-to-standard-injectables-and-devices-for-rejuvenation
#6
Sabine Zenker
<p>INTRODUCTION: Looking at alternatives to standard injectables and devices for rejuvenation, typical indications for facial rejuvenation are poor skin quality, pigmentary changes, and the loss of shape. Looking for effective treatments for those indications in the aesthetic field, one can notice a kind of "retro"-trend: easy-to-perform, non- or minimally-invasive, low-investment-requiring procedures are regaining a lot of popularity. And, over time, those treatments are becoming well defined and far more specific...
June 1, 2017: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/28984718/endoscopic-treatment-of-the-zenker-diverticulum-with-flexible-endoscopic-myotomy-a-single-tertiary-center-experience
#7
Selçuk Dişibeyaz, Ufuk B Kuzu, Erkan Parlak, Fatih Saygili, Erkin Öztaş, Derya Ari, Burhan Şahin
INTRODUCTION: The Zenker diverticulum (ZD) is the most common type of esophageal diverticula. Management of ZD has different options; however, there is a recent increase in treatment with flexible endoscopic myotomy (FEM). In our study, we aimed to investigate the efficacy and safety of FEM among patients with ZD. MATERIALS AND METHODS: The data of patients who underwent FEM for ZD in our clinic between January 2008 and May 2016 were retrospectively analyzed. Myotomy was performed with a needle-knife sphincterotome by using pulse-cut or forced coagulation electrocautery mode...
October 3, 2017: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
https://www.readbyqxmd.com/read/28954303/double-incision-and-snare-resection-in-symptomatic-zenker-s-diverticulum-a-modification-of-the-stag-beetle-knife-technique
#8
Stefan K Gölder, Juliane Brueckner, Alanna Ebigbo, Helmut Messmann
Background and study aim Relief from dysphagia and regurgitation are the main goals of therapy in symptomatic Zenker's diverticulum. Flexible endoscopic treatment has proved to be an effective and safe method in control of these symptoms. The aim of our study was to further improve the resection of the cricopharyngeal muscle using a new technique, the double incision and snare resection (DISR) procedure, to reduce the recurrence rate. Patients and methods From February 2016 to April 2017, 16 patients were treated with 18 DISR procedures at our institution...
September 27, 2017: Endoscopy
https://www.readbyqxmd.com/read/28942159/interaction-of-violacein-in-models-for-cellular-membranes-regulation-of-the-interaction-by-the-lipid-composition-at-the-air-water-interface
#9
Karine Damaceno de Souza, Katia Regina Perez, Nelson Durán, Giselle Zenker Justo, Luciano Caseli
Some biological properties of violacein are believed to be associated with their interactions with lipid surfaces, encouraging research on the identification of membrane sites capable of drug binding. In this study, we investigated the interaction of violacein with cell membrane models represented by Langmuir monolayers of selected lipids: one representing healthy cellular membranes: dipalmitoylphosphatidylcholine, DPPC, and the other one representing tumorigenic cellular membranes, dipalmitoylphosphatidylserine, DPPS...
September 12, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28939912/genetic-screening-confirms-heterozygous-mutations-in-acan-as-a-major-cause-of-idiopathic-short-stature
#10
Nadine N Hauer, Heinrich Sticht, Sangamitra Boppudi, Christian Büttner, Cornelia Kraus, Udo Trautmann, Martin Zenker, Christiane Zweier, Antje Wiesener, Rami Abou Jamra, Dagmar Wieczorek, Jaqueline Kelkel, Anna-Maria Jung, Steffen Uebe, Arif B Ekici, Tilman Rohrer, André Reis, Helmuth-Günther Dörr, Christian T Thiel
Short stature is a common pediatric disorder affecting 3% of the population. However, the clinical variability and genetic heterogeneity prevents the identification of the underlying cause in about 80% of the patients. Recently, heterozygous mutations in the ACAN gene coding for the proteoglycan aggrecan, a main component of the cartilage matrix, were associated with idiopathic short stature. To ascertain the prevalence of ACAN mutations and broaden the phenotypic spectrum in patients with idiopathic short stature we performed sequence analyses in 428 families...
September 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28931189/management-decisions-for-zenker-diverticulum-in-the-elderly
#11
Karen Kost, Kourosh Parham
No abstract text is available yet for this article.
September 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28926540/corrigendum-s100-alarmin-induced-innate-immune-programming-protects-newborn-infants-from-sepsis
#12
Thomas Ulas, Sabine Pirr, Beate Fehlhaber, Marie S Bickes, Torsten G Loof, Thomas Vogl, Lara Mellinger, Anna S Heinemann, Johanna Burgmann, Jennifer Schöning, Sabine Schreek, Sandra Pfeifer, Friederike Reuner, Lena Völlger, Martin Stanulla, Maren von Köckritz-Blickwede, Shirin Glander, Katarzyna Barczyk-Kahlert, Constantin S von Kaisenberg, Judith Friesenhagen, Lena Fischer-Riepe, Stefanie Zenker, Joachim L Schultze, Johannes Roth, Dorothee Viemann
No abstract text is available yet for this article.
September 19, 2017: Nature Immunology
https://www.readbyqxmd.com/read/28926464/zenker-diverticulum-in-systemic-sclerosis-related-achalasic-megaesophagus
#13
Francesca Ingegnoli, Tommaso Schioppo
No abstract text is available yet for this article.
September 19, 2017: Journal of Clinical Rheumatology: Practical Reports on Rheumatic & Musculoskeletal Diseases
https://www.readbyqxmd.com/read/28925594/pharyngoesophageal-diverticula-simulating-thyroid-nodules-an-unusual-occurrence-with-unique-features
#14
Karen K Nauschuetz, Lorna L Ogden, Cherry E Starling, Mohammad J Saleh, Allan C Golding, S Thomas Traweek
Pharyngoesophageal diverticula (PED) of the Zenker's and Killian-Jamieson types arise in close proximity to the thyroid gland, and may rarely be confused with a thyroid nodule on ultrasonography. In this brief report, we detail the cytologic, clinical, and radiologic findings of three PED that were thought to be thyroid nodules, and were subjected to fine-needle aspiration (FNA). The patients were females with an age range of 51-64 years. All three patients had multiple thyroid nodules, and two patients reported symptoms attributable to the diverticulum...
September 19, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28915203/treatment-of-zenker-s-diverticulum-with-endoscopic-stapled-esophago-divertisculostomy-esd-analysis-of-long-term-outcome
#15
Michele Mazza, Alberto N Bergamini, Paolo Parise, Andrea Cossu, Olga Adamenko, Ugo Elmore, Riccardo Rosati
BACKGROUND: Endoscopic Zenker diverticulum (ZD) treatment has become quite common because of the low complication rates, reduced procedure time, and shorter hospital stay. Many endoscopic treatments are available including the endoscopic stapled esophago-diverticulostomy (ESD). Many data regarding ESD are available on the short-term outcomes, but few on the long-term ones. MATERIALS AND METHODS: From March 1998 to July 2016, 126 patients with ZD were candidate for ESD...
September 14, 2017: Surgical Laparoscopy, Endoscopy & Percutaneous Techniques
https://www.readbyqxmd.com/read/28875504/zenker-s-diverticulum-submucosal-tunneling-endoscopic-septum-division-z-poem
#16
Oscar Víctor Hernandez Mondragón, Omar Michel Solórzano Pineda, Juan Manuel Blancas Valencia
BACKGROUND: Zenker diverticulum is characterized by dysphagia, weight loss and bronchoaspiration [1]. Open surgery has been the cornerstone of treatment, with good response but recurrence up to 35%.[2]. Rigid endoscopic diverticulotomy has similar results, but with conversion to open surgery up to 30%[3]. Flexible endoscopic diverticulotomy is safe, effective and can be performed in an endoscopic setting, but multiple sessions are needed because of uncomplete cut of the septum[4,5]. Z-POEM is a new procedure in which a total septum myotomy throughout a submucosal tunnel can be performed...
September 6, 2017: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
https://www.readbyqxmd.com/read/28874962/usefulness-of-the-hook-knife-in-flexible-endoscopic-myotomy-for-zenker-s-diverticulum
#17
Olivier Rouquette, Armando Abergel, Aurélien Mulliez, Laurent Poincloux
AIM: To investigate the outcome of flexible endoscopic myotomy performed with the Hook knife in patients with symptomatic Zenker's diverticulum (ZD). METHODS: All consecutive patients treated for ZD at our institution between 7/2012 and 12/2016 were included. The flexible endoscopic soft diverticuloscope-assisted technique with endoclips placement and Hook knife myotomy were performed in all patients. Here we report a retrospective review of prospectively collected data...
August 16, 2017: World Journal of Gastrointestinal Endoscopy
https://www.readbyqxmd.com/read/28865216/coagulology-biochemical-profile-and-muscle-pathology-in-calves-diagnosed-with-nutritional-muscular-dystrophy
#18
K Żarczyńska, W Baumgartner, P Sobiech
The aim of this study was to explain the correlations between selenium deficiency, hemostatic and biochemical disorders, and the progression of pathological changes in calves diagnosed with nutritional muscular dystrophy (NMD). The study was performed on 20 calves with supplementation of 8 ml selenium and vitamin E preparation and 20 calves with symptoms of NMD. Blood was sampled from calves aged 5, 12 and 19 days. On day 19, samples of the biceps femoris muscle were collected from 6 animals in each group for histopathological analysis...
March 1, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28860385/a-microtubule-organizing-center-directing-intracellular-transport-in-the-early-mouse-embryo
#19
J Zenker, M D White, R M Templin, R G Parton, O Thorn-Seshold, S Bissiere, N Plachta
The centrosome is the primary microtubule-organizing center (MTOC) of most animal cells; however, this organelle is absent during early mammalian development. Therefore, the mechanism by which the mammalian embryo organizes its microtubules (MTs) is unclear. We visualize MT bridges connecting pairs of cells and show that the cytokinetic bridge does not undergo stereotypical abscission after cell division. Instead, it serves as scaffold for the accumulation of the MT minus-end-stabilizing protein CAMSAP3 throughout interphase, thereby transforming this structure into a noncentrosomal MTOC...
September 1, 2017: Science
https://www.readbyqxmd.com/read/28835975/-baroreceptor-activation-therapy-for-therapy-resistant-hypertension-indications-and-patient-selection-recommendations-of-the-bat-consensus-group-2017
#20
REVIEW
M Koziolek, J Beige, M Wallbach, D Zenker, G Henning, M Halbach, N Mader, F Mahfoud, G Schlieper, V Schwenger, M Hausberg, J Börgel, M Lodde, M van der Giet, J Müller-Ehmsen, J Passauer, S Parmentier, S Lüders, B K Krämer, S Büttner, F Limbourg, J Jordan, O Vonend, H-G Predel, H Reuter
Baroreceptor activation therapy (BAT) has been available for several years for treatment of therapy-refractory hypertension (trHTN). This procedure is currently being carried out in a limited number of centers in Germany, also with the aim of offering a high level of expertise through sufficient experience; however, a growing number of patients who are treated with BAT experience problems that treating physicians are confronted with in routine medical practice. In order to address these problems, a consensus conference was held with experts in the field of trHTN in November 2016, which summarizes the current evidence and experience as well as the problem areas in handling BAT patients...
October 2017: Der Internist
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