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https://www.readbyqxmd.com/read/28806841/genetic-polymorphisms-as-predictive-markers-of-response-to-growth-hormone-therapy-in-children-with-growth-hormone-deficiency
#1
Anna Maria Jung, Martin Zenker, Christina Lißewski, Denny Schanze, Stefan Wagenpfeil, Tilman Robert Rohrer
Objective Growth hormone (GH) deficiency (GHD) is commonly treated with recombinant human GH (rhGH). Individual response to rhGH therapy varies widely and there is evidence that variations in growth-related genes, e. g. the GH receptor (GHR) gene, may impact treatment response. We aimed to identify genetic polymorphisms which could serve as predictive markers of response to rhGH therapy. Methods We conducted a genetic analysis of single nucleotide polymorphisms (SNPs) and the GHR exon 3 deletion in 101 paediatric GHD patients receiving rhGH...
August 14, 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/28805828/mutations-in-keops-complex-genes-cause-nephrotic-syndrome-with-primary-microcephaly
#2
Daniela A Braun, Jia Rao, Geraldine Mollet, David Schapiro, Marie-Claire Daugeron, Weizhen Tan, Olivier Gribouval, Olivia Boyer, Patrick Revy, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Jennifer A Lawson, Denny Schanze, Shazia Ashraf, Jeremy F P Ullmann, Charlotte A Hoogstraten, Nathalie Boddaert, Bruno Collinet, Gaëlle Martin, Dominique Liger, Svjetlana Lovric, Monica Furlano, I Chiara Guerrera, Oraly Sanchez-Ferras, Jennifer F Hu, Anne-Claire Boschat, Sylvia Sanquer, Björn Menten, Sarah Vergult, Nina De Rocker, Merlin Airik, Tobias Hermle, Shirlee Shril, Eugen Widmeier, Heon Yung Gee, Won-Il Choi, Carolin E Sadowski, Werner L Pabst, Jillian K Warejko, Ankana Daga, Tamara Basta, Verena Matejas, Karin Scharmann, Sandra D Kienast, Babak Behnam, Brendan Beeson, Amber Begtrup, Malcolm Bruce, Gaik-Siew Ch'ng, Shuan-Pei Lin, Jui-Hsing Chang, Chao-Huei Chen, Megan T Cho, Patrick M Gaffney, Patrick E Gipson, Chyong-Hsin Hsu, Jameela A Kari, Yu-Yuan Ke, Cathy Kiraly-Borri, Wai-Ming Lai, Emmanuelle Lemyre, Rebecca Okashah Littlejohn, Amira Masri, Mastaneh Moghtaderi, Kazuyuki Nakamura, Fatih Ozaltin, Marleen Praet, Chitra Prasad, Agnieszka Prytula, Elizabeth R Roeder, Patrick Rump, Rhonda E Schnur, Takashi Shiihara, Manish D Sinha, Neveen A Soliman, Kenza Soulami, David A Sweetser, Wen-Hui Tsai, Jeng-Daw Tsai, Rezan Topaloglu, Udo Vester, David H Viskochil, Nithiwat Vatanavicharn, Jessica L Waxler, Klaas J Wierenga, Matthias T F Wolf, Sik-Nin Wong, Sebastian A Leidel, Gessica Truglio, Peter C Dedon, Annapurna Poduri, Shrikant Mane, Richard P Lifton, Maxime Bouchard, Peter Kannu, David Chitayat, Daniella Magen, Bert Callewaert, Herman van Tilbeurgh, Martin Zenker, Corinne Antignac, Friedhelm Hildebrandt
Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in OSGEP, TP53RK, TPRKB, and LAGE3, genes encoding the four subunits of the KEOPS complex, in 37 individuals from 32 families with GAMOS. CRISPR-Cas9 knockout in zebrafish and mice recapitulated the human phenotype of primary microcephaly and resulted in early lethality. Knockdown of OSGEP, TP53RK, or TPRKB inhibited cell proliferation, which human mutations did not rescue...
August 14, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28759927/endoscopic-treatment-of-zenker-s-diverticulum-using-a-stag-beetle-knife
#3
Juan Manuel Martín-Guerrero, Alba Belda-Cuesta, Adan Lamilla-Fernández
No abstract text is available yet for this article.
July 31, 2017: Endoscopy
https://www.readbyqxmd.com/read/28690482/barber-say-syndrome-and-ablepharon-macrostomia-syndrome-a-patient-s-view
#4
Beatrice De Maria, Tresia de Jager, Caitlin Sarubbi, Oliver Bartsch, Alberto Bianchi, Francesco Brancati, Hon-Yin B Chung, Albert David, Ariana Kariminejad, Maura Foresti, Marina Gallottini, Bertrand Isidor, Shannon Marchegiani, Fabiana Martins, Laura Mazzanti, Nathalie Roche, Ankur Singh, Cathy Stevens, Kenichi Suga, Martin Zenker, Raoul C Hennekam
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with...
June 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28689425/endoscopic-retreatment-of-zenker-s-diverticulum-using-novel-endoscopic-scissors-the-clutch-cutter-device
#5
Nicolás González, Dardo Debenedetti, Andrés Taullard
Treatment of Zenker's diverticulum by flexible endoscopy consists of the myotomy of the cricopharyngeal muscle and is considered to be feasible, effective and safe. This report describes the novel use of a Clutch Cutter® device to perform flexible endoscopic retreatment of a symptomatic recurrence after previous treatment using a Needle knife in a 68 year old woman with symptoms of dysphagia for solids.
July 10, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28686586/quantifying-transcription-factor-dna-binding-in-single-cells-in-vivo-with-photoactivatable-fluorescence-correlation-spectroscopy
#6
Ziqing Winston Zhao, Melanie D White, Yanina D Alvarez, Jennifer Zenker, Stephanie Bissiere, Nicolas Plachta
Probing transcription factor (TF)-DNA interactions remains challenging in complex in vivo systems such as mammalian embryos, especially when TF copy numbers and fluorescence background are high. To address this difficulty, fluorescence correlation spectroscopy (FCS) can be combined with the use of photoactivatable fluorescent proteins to achieve selective photoactivation of a subset of tagged TF molecules. This approach, termed paFCS, enables FCS measurements within single cell nuclei inside live embryos, and obtains autocorrelation data of a quality previously only attainable in simpler in vitro cell culture systems...
July 2017: Nature Protocols
https://www.readbyqxmd.com/read/28685799/zenker-s-diverticulum
#7
Haithem Zaafouri, Mouna Cherif, Ahmed Bouhafa, Anis Ben Maamer
No abstract text is available yet for this article.
October 2016: La Tunisie Médicale
https://www.readbyqxmd.com/read/28661108/-endoscopic-resection-of-zenker-diverticulum-a-single-center-experience
#8
Yuval Nachalon, Jacob Shvero
BACKGROUND: Zenker diverticulum (ZD) is a pseudodiverticulum and usually affects males in the 6th-9th decade of life, symptoms include dysphagia, regurgitation, chronic cough, aspiration, halitosis and weight loss. Surgery has been the mainstay treatment of symptomatic ZD and can be divided into external and intraluminal (endoscopic) techniques. METHODS: Charts of all patients who had endoscopic correction of ZD in a tertiary referral center in the last 5 years were retrieved...
June 2017: Harefuah
https://www.readbyqxmd.com/read/28647036/supra-aortic-interventions-for-endovascular-exclusion-of-the-entire-aortic-arch
#9
REVIEW
Terézia B Andrási, Marius Grossmann, Dieter Zenker, Bernhard C Danner, Friedrich A Schöndube
OBJECTIVE: Our aim was to analyze the outcomes of endovascular exclusion of the entire aortic arch (proximal landing in zone 0, distal landing in zone III or beyond, after Ishimaru) in which complete surgical debranching of the supra-aortic vessels (I), endovascular supra-aortic revascularization (chimney, fenestrated, or branched grafts) with partial surgical debranching (II), or total endovascular supra-aortic revascularization (III) was additionally performed. METHODS: Publications describing endovascular repair of the aortic arch (2000-2016) were systematically searched and reviewed...
July 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28644552/assessment-of-videofluoroscopic-swallow-study-findings-before-and-after-cricopharyngeal-myotomy
#10
Jacqui Allen, Dora Blair, Anna Miles
BACKGROUND: Cricopharyngeal myotomy is a treatment for obstructive cricopharyngeal bar and Zenker's diverticulitis. Little is reported regarding contrast study findings and their correlation with patient symptoms. METHODS: All patients treated by cricopharyngeal myotomy underwent a preoperative and postoperative videofluoroscopic swallow study (VFSS) and completed the self-reported Eating Assessment Tool (EAT-10). Studies were analyzed quantitatively. RESULTS: Forty cricopharyngeal myotomies were performed (mean age 76 years; SD 8...
June 23, 2017: Head & Neck
https://www.readbyqxmd.com/read/28644433/ctla-4-mediated-posttranslational-modifications-direct-cytotoxic-t-lymphocyte-differentiation
#11
Holger Lingel, Josef Wissing, Aditya Arra, Denny Schanze, Stefan Lienenklaus, Frank Klawonn, Mandy Pierau, Martin Zenker, Lothar Jänsch, Monika C Brunner-Weinzierl
The blockade of inhibitory receptors such as CTLA-4 (CD152) is being used as immune-checkpoint therapy, offering a powerful strategy to restore effective immune responses against tumors. To determine signal components that are induced under the control of CTLA-4 we analyzed activated murine CD8(+) T cells by quantitative proteomics. Accurate mass spectrometry revealed that CTLA-4 engagement led to central changes in the phosphorylation of proteins involved in T-cell differentiation. Beside other targets, we discovered a CTLA-4-mediated induction of the translational inhibitor programmed cell death-4 (PDCD4) as a result of FoxO1 nuclear re-localization...
June 23, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28625183/simultaneously-occurring-zenker-s-diverticulum-and-killian-jamieson-diverticulum-case-report-and-literature-review
#12
K E Stewart, D R K Smith, S L Woolley
BACKGROUND: Pharyngoesophageal diverticula have many subtypes, with Zenker's diverticulum being the most common. First described in 1983, a Killian-Jamieson diverticulum is an outpouching in the anterolateral wall at the pharyngoesophageal junction. This is located inferiorly to the cricopharyngeus muscle, unlike Zenker's diverticula which occur superiorly. Killian-Jamieson diverticula are rare and are commonly misdiagnosed as Zenker's diverticula. Less than 30 reports of Killian-Jamieson diverticula have been described in the literature...
June 19, 2017: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/28623786/proteolytic-processed-form-of-cxcl12-abolishes-migration-and-induces-apoptosis-in-neural-stem-cells-in-vitro
#13
Taís Adelita, Roberta Sessa Stilhano, Sang Won Han, Giselle Zenker Justo, Marimelia Porcionatto
The subventricular zone (SVZ) of the adult mammalian brain hosts full potential neural stem cells (NSCs). NSCs are able to respond to extracellular signals in the brain, amplifying the pool of progenitor cells and giving rise to neuroblasts that show ability to migrate towards an injury site. These signals can come from vascular system, cerebrospinal fluid, glial cells, or projections of neurons in adjoining regions. CXCL12, a chemokine secreted after brain injury, reaches the SVZ in a gradient manner and drives neuroblasts towards the lesion area...
June 4, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28622382/correction-aberrant-neuronal-activity-induced-signaling-and-gene-expression-in-a-mouse-model-of-rasopathy
#14
Franziska Altmüller, Santosh Pothula, Anil Annamneedi, Saeideh Nakhaei-Rad, Carolina Montenegro-Venegas, Eneko Pina-Fernández, Claudia Marini, Monica Santos, Denny Schanze, Dirk Montag, Mohammad R Ahmadian, Oliver Stork, Martin Zenker, Anna Fejtova
[This corrects the article DOI: 10.1371/journal.pgen.1006684.].
June 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28594414/genotype-and-phenotype-spectrum-of-nras-germline-variants
#15
Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M White, Marena R Niewisch, Sixto García-Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker
RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants)...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28580522/antiangiogenic-effects-of-nerve-growth-factor-loop-4-monomeric-dipeptide-mimetic
#16
S A Kryzhanovskii, T A Antipova, I B Tsorin, E S Pekeldina, S V Nikolaev, A V Sorokina, I A Miroshkina, T A Gudasheva, S B Seredenin
The effects of GK-1, a monomeric dipeptide mimetic of nerve growth factor (NGF) loop 4, on angiogenesis were studied in vitro and in vivo. Experiments on human umbilical vein endothelial cells HUVEC showed that the test compound did not affect tubulogenesis (initial stage of angiogenesis) and prevented realization of the angiogenic effect of NGF and its dimeric dipeptide mimetic GK-2. Experiments on rat hind limb ischemia model demonstrated that GK-1 (1 mg/kg/day intraperitoneally over 14 days) significantly reduced the density of the capillary network in ischemic tissue and increased the number and area of Zenker necrosis in comparison with the control...
June 5, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28546797/endoscopic-management-of-zenker-diverticula
#17
Todd H Baron
No abstract text is available yet for this article.
April 2017: Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28540530/voice-outcomes-in-surgical-repair-of-zenker-s-diverticulum
#18
Stephen Schoeff, Michael Freeman, James Daniero
The purpose of the study was to define the impact of Zenker's diverticula on voice and potential benefit from repair. Retrospective chart review of prospectively collected data from eleven patients with a Zenker's diverticulum treated surgically in a tertiary care center from November 2014 through January 2016. The voice handicap index-10 (VHI-10) and eating assessment tool-10 (EAT-10) questionnaires were collected as part of pre- and post-operative evaluation, with an average post-operative follow-up of 69 days...
May 25, 2017: Dysphagia
https://www.readbyqxmd.com/read/28534330/-preliminary-results-of-submucosal-tunneling-endoscopic-septum-division-in-the-treatment-of-esophageal-diverticulum
#19
Mingyan Cai, Meidong Xu, Quanlin Li, Weifeng Chen, Yan Zhu, Danfeng Zhang, Liqing Yao, Pinghong Zhou
OBJECTIVE: To evaluate the safety and efficacy of submucosal tunneling endoscopic septum division (STESD) for escophageal diverticulum. METHODS: Clinical data of six consecutive patients with symptomatic esophageal diverticula who received STESD in Endoscopy Center of Zhongshan Hospital, Fudan University from April 2016 to November 2016 were analyzed retrospectively. STESD was performed as following: mucosal entry was made 3 cm from the septum of esophageal diverticulum; submucosal tunnel was created towards the septum; after the satisfactory exposure of the septum, endoscopic division was made down to the bottom of the diverticulum; mucosal closure of the tunnel entry was made...
May 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
https://www.readbyqxmd.com/read/28533665/new-flexible-endoscopic-controlled-stapler-technique-for-the-treatment-of-zenker-s-diverticulum-a-case-series
#20
Johanna Wilmsen, Robert Baumbach, Dietmar Stüker, Vincens Weingart, Frank Neser, Stefan Karl Gölder, Christof Pfundstein, Ellen Claudia Nötzel, Thomas Rösch, Siegbert Faiss
AIM: To report about the combination and advantages of a stapler-assisted diverticulotomy performed by flexible endoscopy. METHODS: From November 2014 till December 2015 17 patients (8 female, 9 male, average age 69.8 years) with a symptomatic Zenker diverticulum (mean size 3.5 cm) were treated by inserting a new 5 mm fully rotatable surgical stapler (MicroCutter30 Xchange, Cardica Inc.) next to an ultrathin flexible endoscope through an overtube. The Patients were under conscious sedation with the head reclined in left position, the stapler placed centrally and pushed forward to the bottom of the diverticulum...
May 7, 2017: World Journal of Gastroenterology: WJG
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