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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
Bruce D Gelb, Hélène Cavé, Mitchell W Dillon, Karen W Gripp, Jennifer A Lee, Heather Mason-Suares, Katherine A Rauen, Bradley Williams, Martin Zenker, Lisa M Vincent
PurposeStandardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWGs) are systematically reviewing disease-associated genes for sufficient evidence to support disease causality and creating disease-specific specifications of American College of Medical Genetics and Genomics-Association for Molecular Pathology (ACMG-AMP) guidelines for consistent and accurate variant classification.MethodsThe ClinGen RASopathy CDWG established an expert panel to curate gene information and generate gene- and disease-specific specifications to ACMG-AMP variant classification framework...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
S Mantziari, C Mariette, G Piessen
A Zenker's or pharyngoesophageal diverticulum may represent a rare cause of upper digestive obstruction, or more often, cervical dysphagia, regurgitations and cough. It develops most often on the posterior left side of cervical oesophagus in elderly patients, and depending on the severity of clinical symptoms may warrant surgical or endoscopic treatment. For large lesions with a difficult endoscopic access to the diverticular neck, surgery is recommended. In our case, we illustrate a giant right-sided Zenker's diverticulum responsible for complete aphagia in a 78-year-old male patient...
February 23, 2018: Journal of Visceral Surgery
Jennifer J Johnston, Jasper J van der Smagt, Jill A Rosenfeld, Alistair T Pagnamenta, Abdulrahman Alswaid, Eva H Baker, Edward Blair, Guntram Borck, Julia Brinkmann, William Craigen, Vu Chi Dung, Lisa Emrick, David B Everman, Koen L van Gassen, Suleyman Gulsuner, Margaret H Harr, Mahim Jain, Alma Kuechler, Kathleen A Leppig, Donna M McDonald-McGinn, Ngoc Thi Bich Can, Amir Peleg, Elizabeth R Roeder, R Curtis Rogers, Lena Sagi-Dain, Julie C Sapp, Alejandro A Schäffer, Denny Schanze, Helen Stewart, Jenny C Taylor, Nienke E Verbeek, Magdalena A Walkiewicz, Elaine H Zackai, Christiane Zweier, Martin Zenker, Brendan Lee, Leslie G Biesecker
PurposeTo characterize the molecular genetics of autosomal recessive Noonan syndrome.MethodsFamilies underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used to identify variants. The molecular consequences of observed splice variants were evaluated by reverse-transcription polymerase chain reaction.ResultsTwelve families with a total of 23 affected children with features of Noonan syndrome were evaluated...
February 22, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sauid Ishaq, Haleema Sultan, Keith Siau, Toshio Kuwai, Chris J Mulder, Helmut Neumann
Zenker's diverticulum (ZD), or pharyngeal pouch, is an anatomical defect characterized by herniation of the posterior pharyngeal wall through Killian's dehiscence, and may result in dysphagia and regurgitation. Multiple therapeutic modalities including surgery, rigid and flexible endoscopy have been developed to manage ZD. Although surgical management with open and endoscopically assisted techniques have historically been the mainstay of ZD treatment, minimally invasive flexible endoscopic techniques, carried out under conscious sedation, are increasingly favored...
February 9, 2018: Digestive Endoscopy: Official Journal of the Japan Gastroenterological Endoscopy Society
T Kanni, O Zenker, M Habel, N Riedemann, E J Giamarellos-Bourboulis
OBJECTIVE: Despite the heavy purulence observed in hidradenitis suppurativa (HS), kinetics of complement anaphylatoxins acting to prime chemotaxis of neutrophils has never been studied. Complement activation was explored in HS. METHODS: Circulating concentrations of complement factor C5a as well as of membrane attack complex C5b-9 were determined in the plasma of 54 treatment naïve patients and of 14 healthy controls as well as in the pus of seven patients. Results were correlated with Hurley stage and iHS4 score of severity...
February 6, 2018: British Journal of Dermatology
Simone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, Simona Coppola, Ehsan Amin, Luca Pannone, Kazem Nouri, Luciapia Farina, Radovan Dvorsky, Francesca Lepri, Marcel Buchholzer, Raphael Konopatzki, Laurence Walsh, Katelyn Payne, Mary Ella Pierpont, Samantha Schrier Vergano, Katherine G Langley, Douglas Larsen, Kelly D Farwell, Sha Tang, Cameron Mroske, Ivan Gallotta, Elia Di Schiavi, Matteo Della Monica, Licia Lugli, Cesare Rossi, Marco Seri, Guido Cocchi, Lindsay Henderson, Berivan Baskin, Mariëlle Alders, Roberto Mendoza-Londono, Lucie Dupuis, Deborah A Nickerson, Jessica X Chong, Naomi Meeks, Kathleen Brown, Tahnee Causey, Megan T Cho, Stephanie Demuth, Maria Cristina Digilio, Bruce D Gelb, Michael J Bamshad, Martin Zenker, Mohammad Reza Ahmadian, Raoul C Hennekam, Marco Tartaglia, Ghayda M Mirzaa
Exome sequencing has markedly enhanced the discovery of genes implicated in Mendelian disorders, particularly for individuals in whom a known clinical entity could not be assigned. This has led to the recognition that phenotypic heterogeneity resulting from allelic mutations occurs more commonly than previously appreciated. Here, we report that missense variants in CDC42, a gene encoding a small GTPase functioning as an intracellular signaling node, underlie a clinically heterogeneous group of phenotypes characterized by variable growth dysregulation, facial dysmorphism, and neurodevelopmental, immunological, and hematological anomalies, including a phenotype resembling Noonan syndrome, a developmental disorder caused by dysregulated RAS signaling...
January 17, 2018: American Journal of Human Genetics
Stefan K Gölder, Juliane Brückner, Alanna Ebigbo, Helmut Messmann
No abstract text is available yet for this article.
February 2018: Endoscopy
Sauid Ishaq, Giorgio Battaglia, Alessandro Antonello
No abstract text is available yet for this article.
February 2018: Endoscopy
Siegbert Faiss
No abstract text is available yet for this article.
February 2018: Endoscopy
Matthew R Hoffman, Heidi Kletzien, Seth H Dailey, J Scott McMurray
Zenker's diverticulum is a rare cause of progressive dysphagia that is treated surgically. KTP laser-based diverticulotomy is one effective treatment. Developing a simulation model is helpful for rare conditions. Pigs have a natural hypopharyngeal pouch similar to a diverticulum. We present a model for performing rigid endoscopic KTP laser diverticulotomy in a porcine model using a laryngeal dissection station. Eleven pigs were examined to confirm presence of the hypopharyngeal pouch. A specimen was mounted on the modified laryngeal dissection station and a KTP laser-based diverticulotomy was performed...
December 2017: OTO Open
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
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
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
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
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
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
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
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
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
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