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https://www.readbyqxmd.com/read/29335739/a-postzygotic-smo-mutation-caused-the-original-case-of-happle-tinschert-syndrome
#1
Martin Zenker, Sigrid Tinschert, Ilse Wieland, Denny Schanze, Rudolf Happle
No abstract text is available yet for this article.
January 16, 2018: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29321670/clinical-and-experimental-evidence-suggest-a-link-between-kif7-and-c5orf42-related-ciliopathies-through-sonic-hedgehog-signaling
#2
Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson, Orly Elpeleg, Tim M Strom, Pascal Joset, Dunja Niedrist, Christine Otte, Beatrice Oneda, Paranchai Boonsawat, Silvia Azzarello-Burri, Deborah Bartholdi, Michael Papik, Markus Zweier, Cordula Haas, Arif B Ekici, Alessandra Baumer, Eugen Boltshauser, Katharina Steindl, Michael Nothnagel, Albert Schinzel, Esther T Stoeckli, Anita Rauch
Acrocallosal syndrome (ACLS) is an autosomal recessive neurodevelopmental disorder caused by KIF7 defects and belongs to the heterogeneous group of ciliopathies related to Joubert syndrome (JBTS). While ACLS is characterized by macrocephaly, prominent forehead, depressed nasal bridge, and hypertelorism, facial dysmorphism has not been emphasized in JBTS cohorts with molecular diagnosis. To evaluate the specificity and etiology of ACLS craniofacial features, we performed whole exome or targeted Sanger sequencing in patients with the aforementioned overlapping craniofacial appearance but variable additional ciliopathy features followed by functional studies...
January 10, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29307104/tiger-moths-in-savannas-in-eastern-amazon-first-assessment-of-diversity-and-seasonal-aspects
#3
D M P Valente, M M Zenker, J A Teston
Biodiversity knowledge on insects is urgently needed due to the ever growing demand for food and the consequent deforestation process and loss of natural habitats in many understudied tropical regions. In this paper, we describe the outcome of a biodiversity research on tiger moths performed for the first time in a poorly studied Amazonian landscape-the savanna. We sampled tiger moths monthly with UV automatic light traps for 12 consecutive months in two sampling points in an area of savanna in eastern Amazon, and we compared our results to previously available data for eastern Amazon...
January 6, 2018: Neotropical Entomology
https://www.readbyqxmd.com/read/29300384/phenotype-and-genotype-of-87-patients-with-mowat-wilson-syndrome-and-recommendations-for-care
#4
Ivan Ivanovski, Olivera Djuric, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura-Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburovic, Anna Kutkowska-Kazmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Baris Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sebastien Moutton, Rikke S Møller, Petra Muschke, Jens Erik Klint Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpic, Maria Luisa Poch-Olive, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Smigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczaluba, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurelien Trimouille, Elvis Terci Valera, Samantha Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli
PurposeMowat-Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally underestimated because its rarity and phenotypic variability sometimes make it difficult to recognize. Here, we aimed to better delineate the phenotype, natural history, and genotype-phenotype correlations of MWS.MethodsIn a collaborative study, we analyzed clinical data for 87 patients with molecularly confirmed diagnosis. We described the prevalence of all clinical aspects, including attainment of neurodevelopmental milestones, and compared the data with the various types of underlying ZEB2 pathogenic variations...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29283905/efficacy-and-safety-of-flexible-endoscopic-management-of-zenker-s-diverticulum
#5
Deepanshu Jain, Abhinav Sharma, Manan Shah, Upen Patel, Nirav Thosani, Shashideep Singhal
Zenker's diverticulum (ZD), a pulsion diverticulum of hypopharynx is a rare but treatable cause of morbidity in geriatric population. Traditionally a surgical disease but due to its associated high morbidity, flexible endoscopy has become a lucrative option. We reviewed 997 patients from 23 original studies who underwent flexible endoscopic diverticulotomy (FED) of ZD. Composite technical and clinical success rate for the study cohort was 99.4% and 87.9%, respectively. Composite failure rate was 10.0% but close to half of them (45...
December 27, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/29221344/endoscopic-diverticulotomy-with-a-stapler-can-be-an-effective-and-safe-treatment-for-killian-jamieson-diverticulum
#6
Po-Jen Yun, Hsu-Kai Huang, Hung Chang, Shih-Chun Lee, Tsai-Wang Huang
Killian-Jamieson diverticulum (KJD) is a rarely encountered esophageal diverticulum which attributes to several symptoms. Clinically, KJD should be differentiated from the most common type of esophageal herniation, i.e., Zenker's diverticulum (ZD). The two diverticula may present in a similar fashion, and treatments have evolved from transcervical to a minimally invasive endoscopic approach in recent years. We present a case of an 88-year-old male with symptomatic esophageal diverticulum. Barium swallow esophagogram and flexible esophagoscopy demonstrated a large KJD with food debris retention...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29198019/muscle-proteolytic-system-modulation-through-the-effect-of-taurine-on-mice-bearing-muscular-atrophy
#7
Rania M Khalil, Walied S Abdo, Ahmed Saad, Eman G Khedr
Skeletal muscle atrophy occurs in different catabolic conditions and mostly accompanied with upregulation of Muscle ring finger 1 (MuRF1) gene which is one of the master regulatory genes in muscle atrophy. Taurine amino acid is widely distributed in different tissues and has anti-inflammatory and antioxidant effects. This study aimed to investigate the potential influence of taurine on muscle atrophy induced by reduced mechanical loading. Twenty-eight Albino mice were used, and divided equally into four groups: group I (control); group II (immobilization); group III (immobilization + taurine); and group IV (taurine)...
December 2, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29184359/identification-of-non-cerebral-cyst-zoonotic-taenia-multiceps-in-domestic-goat-in-bangladesh
#8
Mohammad Omer Faruk, A M A M Zonaed Siddiki, Md Shafiqul Islam, Azizunnesa Rekha, Sharmin Chowdhury, Md Masuduzzaman, Mohammad Alamgir Hossain
Aim: This study was performed to identify the non-cerebral Taenia multiceps cyst through molecular phylogeny of the 12S rRNA gene. Materials and Methods: Eight cyst samples were collected from 385 examined slaughtered goats during October 2015-September 2016 from three slaughterhouses in Chittagong City Corporation. Cysts were removed from the thigh muscle, and scolices were collected for light microscopic examination and molecular identification. The DNA was extracted and analyzed by polymerase chain reaction using 12S rRNA gene primers...
October 2017: Veterinary World
https://www.readbyqxmd.com/read/29180999/alarmin-s100a8-activates-alveolar-epithelial-cells-in-the-context-of-acute-lung-injury-in-a-tlr4-dependent-manner
#9
Deblina Chakraborty, Stefanie Zenker, Jan Rossaint, Anna Hölscher, Michele Pohlen, Alexander Zarbock, Johannes Roth, Thomas Vogl
Alveolar epithelial cells (AECs) are an essential part of the respiratory barrier in lungs for gas exchange and protection against pathogens. Damage to AECs occurs during lung injury and PAMPs/DAMPs have been shown to activate AECs. However, their interplay as well as the mechanism of AECs' activation especially by the alarmin S100A8/A9 is unknown. Thus, our aim was to study the mechanism of activation of AECs (type I and type II) by S100A8 and/or lipopolysaccharide (LPS) and to understand the role of endogenous S100A8/A9 in neutrophil recruitment in the lung...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29178640/expanding-the-mutational-spectrum-in-johanson-blizzard-syndrome-identification-of-whole-exon-deletions-and-duplications-in-the-ubr1-gene-by-multiplex-ligation-dependent-probe-amplification-analysis
#10
Maja Sukalo, Eva Schäflein, Ina Schanze, David B Everman, Nima Rezaei, Jesús Argente, Isabel Lorda-Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Martin Zenker
BACKGROUND: Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pathway. METHODS: Molecular findings in a total of 65 unrelated patients with a clinical diagnosis of JBS who were previously screened for UBR1 mutations by Sanger sequencing were reviewed and cases lacking a disease-causing UBR1 mutation on either one or both alleles were included in this study...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29171816/zenker-s-diverticulum
#11
Jean-Philippe Le Mouel, Mathurin Fumery
A 67-year-old man presented to the gastroenterology clinic with an 8-month history of progressive dysphagia, weight loss, regurgitation, and halitosis. A physical examination revealed no palpable cervical mass. Laboratory studies showed a moderately low serum albumin level. A barium swallow..
November 30, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/29163256/from-discovery-to-justification-outline-of-an-ideal-research-program-in-empirical-psychology
#12
Erich H Witte, Frank Zenker
The gold standard for an empirical science is the replicability of its research results. But the estimated average replicability rate of key-effects that top-tier psychology journals report falls between 36 and 39% (objective vs. subjective rate; Open Science Collaboration, 2015). So the standard mode of applying null-hypothesis significance testing (NHST) fails to adequately separate stable from random effects. Therefore, NHST does not fully convince as a statistical inference strategy. We argue that the replicability crisis is "home-made" because more sophisticated strategies can deliver results the successful replication of which is sufficiently probable...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/29127259/whole-exome-sequencing-of-patients-with-steroid-resistant-nephrotic-syndrome
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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