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https://www.readbyqxmd.com/read/28216384/novel-homozygous-pck1-mutation-causing-cytosolic-phosphoenolpyruvate-carboxykinase-deficiency-presenting-as-childhood-hypoglycemia-an-abnormal-pattern-of-urine-metabolites-and-liver-dysfunction
#1
Päivi Vieira, Jessie Cameron, Elisa Rahikkala, Riikka Keski-Filppula, Lin-Hua Zhang, Saikat Santra, Allison Matthews, Päivi Myllynen, Matti Nuutinen, Jukka S Moilanen, Richard J Rodenburg, Arndt Rolfs, Johanna Uusimaa, Clara D M van Karnebeek
Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood hypoglycemia. Transient elevation of alanine transaminase, lactate and tricarboxylic acid cycle intermediates, especially fumarate, were noticed in urine organic acid analysis. Exome sequencing was performed for the patients and their parents. A novel homozygous PCK1 c.925G>A (p.G309R) mutation was detected in all affected individuals. COS-1 cells transfected with mutant PCK1 transcripts were used to study the pathogenic nature of the detected variant...
February 6, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28142179/breast-mri-at-very-short-te-minte-image-analysis-of%C3%A2-minte-sequences-on-non-fat-saturated-subtracted-t1-weighted-images
#2
Evelyn Wenkel, Rolf Janka, Christian Geppert, Nadine Kaemmerer, Arndt Hartmann, Michael Uder, Matthias Hammon, Michael Brand
Purpose The aim was to evaluate a minimum echo time (minTE) protocol for breast magnetic resonance imaging (MRI) in patients with breast lesions compared to a standard TE (nTE) time protocol. Methods Breasts of 144 women were examined with a 1.5 Tesla MRI scanner. Additionally to the standard gradient-echo sequence with nTE (4.8 ms), a variant with minimum TE (1.2 ms) was used in an interleaved fashion which leads to a better temporal resolution and should reduce the scan time by approximately 50 %...
February 2017: RöFo: Fortschritte Auf Dem Gebiete der Röntgenstrahlen und der Nuklearmedizin
https://www.readbyqxmd.com/read/28116331/a-comprehensive-global-genotype-phenotype-database-for-rare-diseases
#3
Daniel Trujillano, Gabriela-Elena Oprea, Yvonne Schmitz, Aida M Bertoli-Avella, Rami Abou Jamra, Arndt Rolfs
BACKGROUND: The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here, we introduce a comprehensive and global genotype-phenotype database focusing on rare diseases. METHODS: This database (CentoMD (®)) is a browser-based tool that enables access to a comprehensive, independently curated system utilizing stringent high-quality criteria and a quickly growing repository of genetic and human phenotype ontology (HPO)-based clinical information...
January 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28088807/posterior-versus-anterior-circulation-stroke-in-young-adults-a-comparative-study-of-stroke-aetiologies-and-risk-factors-in-stroke-among-young-fabry-patients-sifap1
#4
Bettina von Sarnowski, Ulf Schminke, Ulrike Grittner, Christian Tanislav, Tobias Böttcher, Michael G Hennerici, Turgut Tatlisumak, Jukka Putaala, Manfred Kaps, Franz Fazekas, Christian Enzinger, Arndt Rolfs, Christof Kessler
BACKGROUND: Although 20-30% of all strokes occur in the posterior circulation, few studies have explored the characteristics of patients with strokes in the posterior compared to the anterior circulation so far. Especially data on young patients is missing. METHODS: In this secondary analysis of data of the prospective multi-centre European sifap1 study that investigated stroke and transient ischemic attack (TIA) patients aged 18-55 years, we compared vascular risk factors, stroke aetiology, presence of white matter hyperintensities (WMH) and cerebral microbleeds (CMB) between patients with ischaemic posterior circulation stroke (PCS) and those having suffered from anterior circulation stroke (ACS) based on cerebral MRI...
January 14, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28087732/novel-gnb1-mutations-disrupt-assembly-and-function-of-g-protein-heterotrimers-and-cause-global-developmental-delay-in-humans
#5
Katja Lohmann, Ikuo Masuho, Dipak N Patil, Hauke Baumann, Eva Hebert, Sofia Steinrücke, Daniel Trujillano, Nickolas K Skamangas, Valerija Dobricic, Irina Hüning, Gabriele Gillessen-Kaesbach, Ana Westenberger, Dusanka Savic-Pavicevic, Alexander Münchau, Gabriela Oprea, Christine Klein, Arndt Rolfs, Kirill A Martemyanov
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27923633/diversity-of-glycosphingolipid-gm2-and-cholesterol-accumulation-in-npc1-patient-specific-ipsc-derived-neurons
#6
Michaela Trilck, Franziska Peter, Chaonan Zheng, Marcus Frank, Kostantin Dobrenis, Hermann Mascher, Arndt Rolfs, Moritz J Frech
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. On the cellular level NPC1 mutations lead to an accumulation of cholesterol and gangliosides. As a thorough analysis of the severely affected neuronal cells is unfeasible in NPC1 patients, we recently described the cellular phenotype of neuronal cells derived from NPC1 patient iPSCs carrying the compound heterozygous mutation c.1836A>C/c.1628delC. Here we expanded the analysis to cell lines carrying the prevalent mutation c...
December 3, 2016: Brain Research
https://www.readbyqxmd.com/read/27899752/patent-foramen-ovale-and-cryptogenic-strokes-in-the-stroke-in-young-fabry-patients-study
#7
Roman Huber, Ulrike Grittner, Frank Weidemann, Vincent Thijs, Christian Tanislav, Christian Enzinger, Franz Fazekas, Markus Wolf, Michael G Hennerici, Dominick J H McCabe, Jukaa Putaala, Turgut Tatlisumak, Christoph Kessler, Bettina von Sarnowski, Peter Martus, Edwin Kolodny, Bo Norrving, Arndt Rolfs
BACKGROUND AND PURPOSE: A patent foramen ovale (PFO) is disproportionately prevalent in patients with cryptogenic stroke. Without alternative explanations, it is frequently considered to be causative. A detailed stratification of these patients may improve the identification of incidental PFO. METHODS: We investigated the PFO prevalence in 3497 transient ischemic attack and ischemic stroke patients aged 18 to 55 years in the prospective multicenter SIFAP1 study (Stroke in Young Fabry Patients 1) using the ASCO classification...
January 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27848944/clinical-exome-sequencing-results-from-2819-samples-reflecting-1000-families
#8
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber, Oliver Brandau, Maria Calvo Del Castillo, Caterina Baldi, Karen Wessel, Shivendra Kishore, Nahid Nahavandi, Wafaa Eyaid, Muhammad Talal Al Rifai, Ahmed Al-Rumayyan, Waleed Al-Twaijri, Ali Alothaim, Amal Alhashem, Nouriya Al-Sannaa, Mohammed Al-Balwi, Majid Alfadhel, Arndt Rolfs, Rami Abou Jamra
We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from 54 countries with a wide phenotypic spectrum. Clinical information given by the requesting physicians was translated to HPO terms. WES processes were performed according to standardized settings. We identified the underlying pathogenic or likely pathogenic variants in 307 families (30.7%). In further 253 families (25.3%) a variant of unknown significance, possibly explaining the clinical symptoms of the index patient was identified...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27834854/pharmacologic-treatment-assigned-for-niemann-pick-type-c1-disease-partly-changes-behavioral-traits-in-wild-type-mice
#9
Victoria Schlegel, Markus Thieme, Carsten Holzmann, Martin Witt, Ulrike Grittner, Arndt Rolfs, Andreas Wree
Niemann-Pick Type C1 (NPC1) is an autosomal recessive inherited disorder characterized by accumulation of cholesterol and glycosphingolipids. Previously, we demonstrated that BALB/c-npc1(nih)Npc1(-/-) mice treated with miglustat, cyclodextrin and allopregnanolone generally performed better than untreated Npc1(-/-) animals. Unexpectedly, they also seemed to accomplish motor tests better than their sham-treated wild-type littermates. However, combination-treated mutant mice displayed worse cognition performance compared to sham-treated ones...
November 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27668284/novel-gnb1-missense-mutation-in-a-patient-with-generalized-dystonia-hypotonia-and-intellectual-disability
#10
Sofia Steinrücke, Katja Lohmann, Aloysius Domingo, Arndt Rolfs, Tobias Bäumer, Juliane Spiegler, Corinna Hartmann, Alexander Münchau
Recently, exome sequencing has extended our knowledge of genetic causes of developmental delay through identification of de novo, germline mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) in 13 patients with neurodevelopmental disability and a wide range of additional symptoms and signs including hypotonia in 11 and seizures in 10 of the patients. Limb/arm dystonia was found in 2 patients.(1).
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27618595/allgrove-syndrome-with-prominent-neurological-symptoms-case-report
#11
Martin Jerie, Zdenek Vojtech, Hana Malikova, Sylva Prochazkova, Zuzana Vackova, Arndt Rolfs
We report a young woman with the clinical picture of Allgrove syndrome in whom neurological symptoms are prominent. It usually presents in the first decade of life with a deficiency of tears, recurrent vomiting and dysphagia due to achalasia, severe hypoglycemic seizures and shock due to adrenal insufficiency. Neurological symptoms such as hyperreflexia, dysarthria, hypernasal speech, ataxia, sensory impairment, muscle weakness, and mental retardation are extremely slow to develop and manifest at a later age...
July 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27356758/multicenter-female-fabry-study-mffs-clinical-survey-on-current-treatment-of-females-with-fabry-disease
#12
Malte Lenders, Julia B Hennermann, Christine Kurschat, Arndt Rolfs, Sima Canaan-Kühl, Claudia Sommer, Nurcan Üçeyler, Christoph Kampmann, Nesrin Karabul, Anne-Katrin Giese, Thomas Duning, Jörg Stypmann, Johannes Krämer, Frank Weidemann, Stefan-Martin Brand, Christoph Wanner, Eva Brand
BACKGROUND: The aim of the present study was to assess manifestations of and applied treatment concepts for females with Fabry disease (FD) according to the current European Fabry Guidelines. METHODS: Between 10/2008 and 12/2014, data from the most recent visit of 261 adult female FD patients from six German Fabry centers were retrospectively analyzed. Clinical presentation and laboratory data, including plasma lyso-Gb3 levels were assessed. RESULTS: Fifty-five percent of females were on enzyme replacement therapy (ERT), according to recent European FD guidelines...
June 29, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27322070/cardiac-troponin-i-a-valuable-biomarker-indicating-the-cardiac-involvement-in-fabry-disease
#13
Christian Tanislav, Dursun Guenduez, Christoph Liebetrau, Anne Kathrin Giese, Sabrina Eichler, Nicole Sieweke, Maria Speth, Timm Bauer, Christian Hamm, Arndt Rolfs
OBJECTIVES: Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is challenging, especially regarding cardiac involvement. The aim of the study was to evaluate the diagnostic value of cardiac troponin I (cTnI) in discriminating FD patients with cardiac involvement in a large FD patient cohort. METHODS: cTnI levels were measured with a contemporary sensitive assay in plasma samples taken routinely from FD patients...
2016: PloS One
https://www.readbyqxmd.com/read/27255289/phase-i-study-of-orally-administered-s-1-in-combination-with-epirubicin-and-oxaliplatin-in-patients-with-advanced-solid-tumors-and-chemotherapy-na%C3%A3-ve-advanced-or-metastatic-esophagogastric-cancer
#14
MULTICENTER STUDY
Markus Moehler, Rolf Mahlberg, Volker Heinemann, Radka Obermannová, Eugen Kubala, Bohuslav Melichar, Arndt Weinmann, Paul Scigalla, Marietta Tesařová, Petr Janda, Fabienne Hédouin-Biville, Wasat Mansoor
BACKGROUND: This phase I study investigated the safety and the maximum tolerated dose (MTD) of the oral fluoropyrimidine S-1 when combined with epirubicin and oxaliplatin (EOS). METHODS: Patients aged ≥18 years with advanced or metastatic solid tumors were enrolled in a 3 + 3 design with S-1 dose escalation (two planned cohorts) performed according to the occurrence of dose-limiting toxicity (DLT). On day 1 of each 21-day cycle, patients received epirubicin 50 mg/m(2) followed by oxaliplatin 130 mg/m(2) (maximum 8 cycles) and then S-1 [20 mg/m(2) (cohort 1) or 25 mg/m(2) (cohort 2), twice daily]: first dose, evening of day 1; subsequent administration on days 2-14, twice daily; last dose, morning of day 15 (unlimited number of S-1 cycles)...
March 2017: Gastric Cancer
https://www.readbyqxmd.com/read/27195969/whole-exome-sequencing-in-a-rare-disease-a-patient-with-anomalous-left-coronary-artery-from-the-pulmonary-artery-bland-white-garland-syndrome
#15
Nezih Hekim, Talantbek Batyraliev, Daniel Trujillano, Wei Wang, Collet Dandara, Zarema Karben, Eyüp İlker Saygılı, Zafer Çetin, Deniz Mıhcıoğlu, Serdar Türkmen, Mehmet Ali İkidağ, Mehmet Ali Cüce, Arndt Rolfs
No abstract text is available yet for this article.
May 2016: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/27177088/characterization-of-the-novel-indolylmaleimides-pda-66-and-pda-377-effect-on-canine-lymphoma-cells
#16
Wen Liu, Julia Beck, Laura C Schmidt, Catrin Roolf, Anahit Pews-Davtyan, Barbara C Rütgen, Sabine Hammer, Saskia Willenbrock, Anett Sekora, Arndt Rolfs, Matthias Beller, Bertram Brenig, Ingo Nolte, Christian Junghanss, Ekkehard Schütz, Hugo Murua Escobar
Protein kinase inhibitors are widely used in chemotherapeutic cancer regimens. Maleimide derivatives such as SB-216763 act as GSK-3 inhibitor targeting cell proliferation, cell death and cell cycle progression.Herein, the two arylindolylmaleimide derivatives PDA-66 and PDA-377 were evaluated as potential chemotherapeutic agents on canine B-cell lymphoma cell lines. Canine lymphoma represents a naturally occurring model closely resembling the human high-grade non-Hodgkin's lymphoma (NHL). PDA-66 showed more pronounced effects on both cell lines...
June 7, 2016: Oncotarget
https://www.readbyqxmd.com/read/27176668/cutaneous-freckling-possible-new-clinical-marker-for-the-diagnosis-of-hermansky-pudlak-syndrome-in-indian-asian-patients-with-oculocutaneous-albinism
#17
Karthikeyan Arcot Sadagopan, Renukadevi Kathirvel, Rosanne B Keep, P Sundaresan, Hui Huang, Arndt Rolfs, Kannan Parthiban, P Vijayalakshmi
No abstract text is available yet for this article.
May 13, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27152725/multivariable-regression-analysis-in-schistosoma-mansoni-infected-individuals-in-the-sudan-reveals-unique-immunoepidemiological-profiles-in-uninfected-egg-and-non-egg-infected-individuals
#18
Tayseer Elamin Mohamed Elfaki, Kathrin Arndts, Anna Wiszniewsky, Manuel Ritter, Ibtisam A Goreish, Misk El Yemen A Atti El Mekki, Sandra Arriens, Kenneth Pfarr, Rolf Fimmers, Mike Doenhoff, Achim Hoerauf, Laura E Layland
BACKGROUND: In the Sudan, Schistosoma mansoni infections are a major cause of morbidity in school-aged children and infection rates are associated with available clean water sources. During infection, immune responses pass through a Th1 followed by Th2 and Treg phases and patterns can relate to different stages of infection or immunity. METHODOLOGY: This retrospective study evaluated immunoepidemiological aspects in 234 individuals (range 4-85 years old) from Kassala and Khartoum states in 2011...
May 2016: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/26993117/d313y-mutation-in-the-differential-diagnosis-of-white-matter-lesions-experiences-from-a-multiple-sclerosis-outpatient-clinic
#19
Jana Becker, Arndt Rolfs, Nesrin Karabul, Peter Berlit, Markus Kraemer
White matter lesions (WML) in younger patients might be due to a variety of neurological disorders. Fabry disease (FD), an x-linked inherited lysosomal storage disorder, happens to be misdiagnosed as multiple sclerosis (MS). In two middle-aged female patients, presenting bilateral WML, diagnosis of MS turned out to be doubtful. Human genetic analysis presented the Fabry mutation D313Y, in which clinical impact is still unclear. Disease manifestations outside the central nervous system were not detected. Our findings support the suspicion that Fabry mutation D313Y may be involved in neural damage resulting in WML...
March 18, 2016: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/26880018/a-homozygous-nonsense-variant-in-ift52-is-associated-with-a-human-skeletal-ciliopathy
#20
Katta Mohan Girisha, Anju Shukla, Daniel Trujillano, Gandham SriLakshmi Bhavani, Malavika Hebbar, Rajagopal Kadavigere, Arndt Rolfs
Intraflagellar transport (IFT) is vital for the functioning of primary cilia. Defects in several components of IFT complexes cause a spectrum of ciliopathies with variable involvement of skeleton, brain, eyes, ectoderm and kidneys. We examined a child from a consanguineous family who had short stature, narrow thorax, short hands and feet, post-axial polydactyly of hands, pigmentary retinopathy, small teeth and skeletal dysplasia. The clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome)...
February 16, 2016: Clinical Genetics
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