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Berger Disease

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https://www.readbyqxmd.com/read/28445462/cell-diversity-and-network-dynamics-in-photosensitive-human-brain-organoids
#1
Giorgia Quadrato, Tuan Nguyen, Evan Z Macosko, John L Sherwood, Sung Min Yang, Daniel R Berger, Natalie Maria, Jorg Scholvin, Melissa Goldman, Justin P Kinney, Edward S Boyden, Jeff W Lichtman, Ziv M Williams, Steven A McCarroll, Paola Arlotta
In vitro models of the developing brain such as three-dimensional brain organoids offer an unprecedented opportunity to study aspects of human brain development and disease. However, the cells generated within organoids and the extent to which they recapitulate the regional complexity, cellular diversity and circuit functionality of the brain remain undefined. Here we analyse gene expression in over 80,000 individual cells isolated from 31 human brain organoids. We find that organoids can generate a broad diversity of cells, which are related to endogenous classes, including cells from the cerebral cortex and the retina...
April 26, 2017: Nature
https://www.readbyqxmd.com/read/28437802/surveillance-after-resection-of-pancreatic-ductal-adenocarcinoma-with-curative-intent-a-multicenter-survey-in-germany-and-review-of-the-literature
#2
Thomas J Ettrich, Lucas A Schulte, Natalie Eitel, Kristin Ettrich, Andreas W Berger, Lukas Perkhofer, Thomas Seufferlein
Background Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal cancers with high risk of relapse even after curative-intended resection. There are no evidence-based recommendations for surveillance in actual guidelines. Given this situation and as a basis for prospective studies, we wanted to determine the current practice of surveillance after pancreatic cancer resection in German institutions. Methods A web-based questionnaire was sent in 2015 to 300 German institutions (hospitals, outpatient clinics, and private practices) experienced in the care of patients with PDAC...
April 24, 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28435231/complexity-of-care-and-strategies-of-self-management-in-patients-with-colorectal-cancer
#3
Dominik Ose, Eva C Winkler, Sarah Berger, Ines Baudendistel, Martina Kamradt, Felicitas Eckrich, Joachim Szecsenyi
PURPOSE: Given the inherent complexity of cancer care, in which personal, social, and clinical aspects accumulate and interact over time, self-management support need to become more comprehensive. This study has the following two aims: 1) to analyze and describe the complexity of individual patient situations and 2) to analyze and describe already established self-management strategies of patients to handle this complexity. METHODS: A qualitative study was conducted...
2017: Patient Preference and Adherence
https://www.readbyqxmd.com/read/28433509/transcutaneous-aortic-valve-implantation-using-the-carotid-artery-access-feasibility-and-clinical-outcomes
#4
Zacharenia Kallinikou, Alexandre Berger, Patrick Ruchat, Gregory Khatchatourov, Isabelle Fleisch, Branislav Korkodelovic, Emmanuel Henchoz, René-Andréas Marti, Stéphane Cook, Mario Togni, Jean-Jacques Goy
BACKGROUND: Transcarotid access is an alternative route for transcutaneous aortic valve implantation (TAVI) in patients with impossible transfemoral access. AIMS: We evaluated the safety, effectiveness and early and late clinical outcomes of CoreValve(®) implantation via the common carotid artery. METHODS: Eighteen patients (10 men, 8 women; mean age 84±5 years) at high surgical risk (mean EuroSCORE II 16±13%) with significant peripheral artery disease underwent TAVI via common carotid artery access under general anaesthesia...
April 19, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28431632/combined-evaluation-of-personality-risk-and-coping-in-ms-patients-a-step-towards-individualized-treatment-choice-the-pericoms-study-i
#5
G Bsteh, E Monz, L Zamarian, S Hagspiel, H Hegen, M Auer, S Wurth, F Di Pauli, F Deisenhammer, T Berger
BACKGROUND: Multiple sclerosis (MS) is a chronic inflammatory neurological disease requiring disease-modifying treatment (DMT). To provide patients with the optimal individual therapeutic option, treatment recommendations should be based not only on individual disease course and DMT specific benefit-risk estimates, but also on patient's individual characteristics such as personality, risk attitude and coping strategies. However, these characteristics are difficult to objectify in clinical routine practice without the support of appropriate evaluation instruments...
May 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28427477/plasma-chitotriosidase-activity-versus-ccl18-level-for-assessing-type-i-gaucher-disease-severity-protocol-for-a-systematic-review-with-meta-analysis-of-individual-participant-data
#6
Tatiana Raskovalova, Patrick B Deegan, Ruby Yang, Elena Pavlova, Jérome Stirnemann, José Labarère, Ari Zimran, Pramod K Mistry, Marc Berger
BACKGROUND: Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by deficiency in acid beta-glucosidase. GD exhibits a wide clinical spectrum of disease severity with an unpredictable natural course. Plasma chitotriosidase activity and CC chemokine ligand 18 (CCL18) have been exchangeably used for monitoring GD activity and response to enzyme replacement therapy in conjunction with clinical assessment. Yet, a large-scale head-to-head comparison of these two biomarkers is currently lacking...
April 20, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28424771/ptk7-faces-the-wnt-in-development-and-disease
#7
REVIEW
Hanna Berger, Andreas Wodarz, Annette Borchers
PTK7 (protein tyrosine kinase 7) is an evolutionarily conserved transmembrane receptor regulating various processes in embryonic development and tissue homeostasis. On a cellular level PTK7 affects the establishment of cell polarity, the regulation of cell movement and migration as well as cell invasion. The PTK7 receptor has been shown to interact with ligands, co-receptors, and intracellular transducers of Wnt signaling pathways, pointing to a function in the fine-tuning of the Wnt signaling network. Here we will review recent findings implicating PTK7 at the crossroads of Wnt signaling pathways in development and disease...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28421601/evaluation-of-the-reliability-of-the-cutaneous-dermatomyositis-disease-area-and-severity-index-cdasi-and-the-cutaneous-assessment-tool-binary-method-cat-bm-in-juvenile-dermatomyositis-among-pediatric-dermatologists-rheumatologists-and-neurologists
#8
J Tiao, R Feng, E M Berger, J F Brandsema, C C Coughlin, N Khan, E A Kichula, M A Lerman, S Lvovich, P J McMahon, L G Rider, A I Rubin, L V Scalzi, D M Smith, A J Taxter, J R Treat, R P Williams, S W Yum, J Okawa, V P Werth
BACKGROUND: The Cutaneous Dermatomyositis Disease Area and Severity Index (CDASI) and Cutaneous Assessment Tool-Binary Method (CAT-BM) have been shown to be reliable and valid outcome measures to assess cutaneous disease in adult dermatomyositis (DM) and juvenile DM (JDM), respectively. OBJECTIVE: This study compared the CDASI and CAT-BM for use by pediatric dermatologists, pediatric rheumatologists, and pediatric neurologists in patients with JDM. METHODS: Five pediatric dermatologists, five pediatric rheumatologists, and five pediatric neurologists each evaluated 14 patients with JDM using the CDASI, CAT-BM, and skin Physician Global Assessment (PGA) scales...
April 19, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28420671/ptk7-localization-and-protein-stability-is-affected-by-canonical-wnt-ligands
#9
Hanna Berger, Marlen Breuer, Hanna Peradziryi, Martina Podleschny, Ralf Jacob, Annette Borchers
PTK7 (protein tyrosine kinase 7) is an evolutionarily conserved transmembrane receptor with important roles in embryonic development and disease. Originally identified as a gene upregulated in colon cancer it was later shown to regulate planar cell polarity (PCP) and directional cell movement. PTK7 is a Wnt co-receptor, however its role in Wnt signaling remains controversial. Here, we find evidence that place PTK7 at the intersection of canonical and non-canonical Wnt signaling pathways. In presence of canonical Wnt ligands PTK7 is subject to caveolin-mediated endocytosis, while it is unaffected by non-canonical Wnt ligands...
April 18, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28416282/derivation-of-human-midbrain-specific-organoids-from-neuroepithelial-stem%C3%A2-cells
#10
Anna S Monzel, Lisa M Smits, Kathrin Hemmer, Siham Hachi, Edinson Lucumi Moreno, Thea van Wuellen, Javier Jarazo, Jonas Walter, Inga Brüggemann, Ibrahim Boussaad, Emanuel Berger, Ronan M T Fleming, Silvia Bolognin, Jens C Schwamborn
Research on human brain development and neurological diseases is limited by the lack of advanced experimental in vitro models that truly recapitulate the complexity of the human brain. Here, we describe a robust human brain organoid system that is highly specific to the midbrain derived from regionally patterned neuroepithelial stem cells. These human midbrain organoids contain spatially organized groups of dopaminergic neurons, which make them an attractive model for the study of Parkinson's disease. Midbrain organoids are characterized in detail for neuronal, astroglial, and oligodendrocyte differentiation...
March 31, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28411392/clinical-prognostic-markers-in-stage-iiic-melanoma
#11
Max F Madu, Jaap H H Schopman, Danique M S Berger, Willem M C Klop, Katarzyna Jóźwiak, Michel W J M Wouters, Jos A van der Hage, Alexander C J van Akkooi
BACKGROUND: Although the EORTC 18071-trial has shown a clear survival benefit for adjuvant ipilimumab, accurately selecting patients for this toxic adjuvant therapy is important. We aimed to identify prognostic factors for death and disease recurrence in AJCC stage IIIC melanoma patients. PATIENTS AND METHODS: Retrospective analysis of patients who underwent lymph node dissection (LND) for stage IIIC melanoma in our institution between 2000 and 2016. Baseline characteristics, melanoma-specific survival (MSS), and disease-free survival (DFS) were assessed, and prognostic factors for recurrence and survival were analyzed using uni- and multivariable analysis...
April 15, 2017: Journal of Surgical Oncology
https://www.readbyqxmd.com/read/28404093/somatic-pole-proofreading-domain-mutation-immune-response-and-prognosis-in-colorectal-cancer-a-retrospective-pooled-biomarker-study
#12
Enric Domingo, Luke Freeman-Mills, Emily Rayner, Mark Glaire, Sarah Briggs, Louis Vermeulen, Evelyn Fessler, Jan Paul Medema, Arnoud Boot, Hans Morreau, Tom van Wezel, Gerrit-Jan Liefers, Ragnhild A Lothe, Stine A Danielsen, Anita Sveen, Arild Nesbakken, Inti Zlobec, Alessandro Lugli, Viktor H Koelzer, Martin D Berger, Sergi Castellví-Bel, Jenifer Muñoz, Marco de Bruyn, Hans W Nijman, Marco Novelli, Kay Lawson, Dahmane Oukrif, Eleni Frangou, Peter Dutton, Sabine Tejpar, Mauro Delorenzi, Rachel Kerr, David Kerr, Ian Tomlinson, David N Church
BACKGROUND: Precision cancer medicine depends on defining distinct tumour subgroups using biomarkers that may occur at very modest frequencies. One such subgroup comprises patients with exceptionally mutated (ultramutated) cancers caused by mutations that impair DNA polymerase epsilon (POLE) proofreading. METHODS: We examined the association of POLE proofreading domain mutation with clinicopathological variables and immune response in colorectal cancers from clinical trials (VICTOR, QUASAR2, and PETACC-3) and colorectal cancer cohorts (Leiden University Medical Centre 1 and 2, Oslo 1 and 2, Bern, AMC-AJCC-II, and Epicolon-1)...
November 2016: Lancet. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28403890/distinct-activity-of-the-bone-targeted-gallium-compound-kp46-against-osteosarcoma-cells-synergism-with-autophagy-inhibition
#13
Bernd Kubista, Thomas Schoefl, Lisa Mayr, Sushilla van Schoonhoven, Petra Heffeter, Reinhard Windhager, Bernhard K Keppler, Walter Berger
BACKGROUND: Osteosarcoma is the most frequent primary malignant bone tumor. Although survival has distinctly increased due to neoadjuvant chemotherapy in the past, patients with metastatic disease and poor response to chemotherapy still have an adverse prognosis. Hence, development of new therapeutic strategies is still of utmost importance. METHODS: Anticancer activity of KP46 against osteosarcoma cell models was evaluated as single agent and in combination approaches with chemotherapeutics and Bcl-2 inhibitors using MTT assay...
April 12, 2017: Journal of Experimental & Clinical Cancer Research: CR
https://www.readbyqxmd.com/read/28393988/-chronic-pancreatitis-retrospective-review-of-121-cases
#14
Zoltán Berger F, Carla Mancilla A
BACKGROUND: Chronic pancreatitis (CP) is a rare disease in Chile, without a clear explanation for this low prevalence. AIM: To analyze the characteristics of our patients with pancreatitis. MATERIAL AND METHODS: Retrospective analysis of a database of patients with pancreatitis of a clinical hospital. Morphological proof of diagnosis (calcifications/calculi, alterations of ducts, local complication or histology) was obtained for every patient...
December 2016: Revista Médica de Chile
https://www.readbyqxmd.com/read/28386670/the-impact-of-pathologic-complete-response-in-patients-with-neoadjuvantly-treated-locally-advanced-rectal-cancer-a-large-single-center-experience
#15
A M Dinaux, R Amri, L G Bordeianou, T S Hong, J Y Wo, L S Blaszkowsky, J N Allen, J E Murphy, H Kunitake, D L Berger
Small cohort studies demonstrated better oncologic outcomes for patients with pathologic complete response (PathCR) after neoadjuvant treatment for locally advanced rectal cancer. This study reviews long-term outcomes of a large cohort of clinically stage II/III rectal cancer patients who received neoadjuvant chemoradiation and surgery. This is a retrospective analysis of a single-center cohort, including all clinical stage II/III rectal cancer patients who received neoadjuvant chemoradiation and surgery between 2004 and 2014 (n = 271)...
April 6, 2017: Journal of Gastrointestinal Surgery: Official Journal of the Society for Surgery of the Alimentary Tract
https://www.readbyqxmd.com/read/28385331/generalized-verrucosis-and-abnormal-t-cell-activation-due-to-homozygous-taok2-mutation
#16
Vered Molho-Pessach, Yuval Ramot, Maxim Mogilevsky, Leonor Cohen-Daniel, Eli M Eisenstein, Abdulsalam Abu-Libdeh, Ihab Siam, Michael Berger, Rotem Karni, Abraham Zlotogorski
BACKGROUND: Generalized verrucosis (GV) is a chronic and progressive cutaneous human papillomavirus (HPV) infection resulting in multiple warts and associated with acquired or genetic immune defects. We identified a consanguineous Arab family manifesting GV and recurrent bacterial and viral infections, in association with inflammatory bowel disease (IBD). OBJECTIVE: To identify the mutated gene responsible for GV, recurrent infections and IBD, in this family. METHODS: Flow cytometry of peripheral blood mononuclear cells was performed, as well as proliferation and cell cycle assays of T cells...
March 27, 2017: Journal of Dermatological Science
https://www.readbyqxmd.com/read/28384684/an-international-collaborative-standardizing-a-comprehensive-patient-centered-outcomes-measurement-set-for-colorectal-cancer
#17
Jessica A Zerillo, Maartje G Schouwenburg, Annelotte C M van Bommel, Caleb Stowell, Jacob Lippa, Donna Bauer, Ann M Berger, Gilles Boland, Josep M Borras, Mary K Buss, Robert Cima, Eric Van Cutsem, Eino B van Duyn, Samuel R G Finlayson, Skye Hung-Chun Cheng, Corinna Langelotz, John Lloyd, Andrew C Lynch, Harvey J Mamon, Pamela K McAllister, Bruce D Minsky, Joanne Ngeow, Muhammad R Abu Hassan, Kim Ryan, Veena Shankaran, Melissa P Upton, John Zalcberg, Cornelis J van de Velde, Rob Tollenaar
Importance: Global health systems are shifting toward value-based care in an effort to drive better outcomes in the setting of rising health care costs. This shift requires a common definition of value, starting with the outcomes that matter most to patients. Objective: The International Consortium for Health Outcomes Measurement (ICHOM), a nonprofit initiative, was formed to define standard sets of outcomes by medical condition. In this article, we report the efforts of ICHOM's working group in colorectal cancer...
April 6, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28382381/-stable-disease-or-complete-response-a%C3%A2-critical-evaluation-of-the-radiologic-response-to-immune-checkpoint-blockade-in-advanced-melanoma
#18
J K Tietze, M Heppt, D Angelova, T Ruzicka, F Berger, C Berking
BACKGROUND: Rating the response of melanoma to immune checkpoint blockade (ICB) by conventional CT proves to be difficult, since response patterns and kinetics differ from the classical responses seen with other therapies. Hence, immune-related response criteria were developed. However, they are mainly based on the alteration of the diameter of lesions over time but do not include metabolic activity. OBJECTIVE: The aim of this study was to search for additional criteria to improve the interpretation of the radiologic images of patients with metastatic melanoma after ICB...
April 5, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28371821/telomerase-activation-in-posterior-fossa-group-a-ependymomas-is-associated-with-dismal-prognosis-and-chromosome-1q-gain
#19
Johannes Gojo, Daniela Lötsch, Sabine Spiegl-Kreinecker, Kristian W Pajtler, Katharina Neumayer, Pia Korbel, Asuka Araki, Anita Brandstetter, Thomas Mohr, Volker Hovestadt, Lukas Chavez, Dominik Kirchhofer, Gerda Ricken, Harald Stefanits, Andrey Korshunov, Stefan M Pfister, Karin Dieckmann, Amedeo A Azizi, Thomas Czech, Martin Filipits, Marcel Kool, Andreas Peyrl, Irene Slavc, Walter Berger, Christine Haberler
Background.: Ependymomas account for up to 10% of childhood CNS tumors and have a high rate of tumor recurrence despite gross total resection. Recently, classification into molecular ependymoma subgroups has been established, but the mechanisms underlying the aggressiveness of certain subtypes remain widely enigmatic. The aim of this study was to dissect the clinical and biological role of telomerase reactivation, a frequent mechanism of cancer cells to evade cellular senescence, in pediatric ependymoma...
March 24, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28369399/pulmonary-arterial-hypertension-in-congenital-heart-disease-translational-opportunities-to-study-the-reversibility-of-pulmonary-vascular-disease
#20
Diederik E van der Feen, B Bartelds, Rudolf A de Boer, Rolf M F Berger
Pulmonary arterial hypertension (PAH) is a progressive and lethal pulmonary vascular disease (PVD). Although in recent years outcome has improved by new treatments that delay disease progression, a cure has not yet been achieved. In PAH associated with congenital heart disease (CHD), remodeling of the pulmonary vasculature reaches an irreversible phenotype similar to all forms of end-stage PAH. In PAH-CHD, however, also an early stage is recognised, which can be completely reversible. This reversible phase has never been recognised in other forms of PAH, most likely because these patients are only diagnosed once advanced disease has developed...
February 23, 2017: European Heart Journal
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