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Chung-Yuan Yang, Chuan-Chi Kao, Shuenn-Dyn Chang, Shih-Yin Huang
OBJECTIVE: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result. CASE REPORT: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. The final conventional cytogenetics revealed a karyotype of 46, XX, del(1)(p36)...
February 2018: Taiwanese Journal of Obstetrics & Gynecology
Shu Yan, Li Chen, Qi Zhao, Ya-Nan Liu, Rui Hou, Jing Yu, Hong Zhang
Interleukin (IL)-17 is a major contributor to the pathogenesis of allergic asthma. Developmental endothelial locus-1 (Del-1) is an endothelial cell-secreted protein known to inhibit IL-17 expression. However, little is known about the association between Del-1 and IL-17 in the pathogenesis of allergic asthma. Using bronchoalveolar Lavage Fluid (BALF) and peripheral blood samples collected from allergic asthmatic patients and controls, we explored the role of Del-1 in relation to IL-17 in allergic asthma. We found that the negative correlation between Del-1 and IL-17 was significant in BALF of allergic asthmatics...
February 13, 2018: Immunology and Cell Biology
Lan-Sun Chen, Ioannis Kourtzelis, Rashim Pal Singh, Sylvia Grossklaus, Ben Wielockx, George Hajishengallis, Triantafyllos Chavakis, Ioannis Mitroulis
No abstract text is available yet for this article.
February 7, 2018: Thrombosis and Haemostasis
Soo Jung Lee, Jeeyeon Lee, Wan Wook Kim, Jin Hyang Jung, Ho Yong Park, Ji-Young Park, Yee Soo Chae
OBJECTIVE: A differential diagnostic role for plasma Del-1 was proposed for early breast cancer (EBC) in our previous study. We examined tumoral Del-1 expression and analyzed its prognostic impact among patients with EBC. METHODS: Del-1 mRNA expression was assessed in breast epithelial and cancer cells. Meanwhile, the tumoral expression of Del-1 was determined based on tissue microarrays and immunohistochemistry results from 440 patients. RESULTS: While a high Del-1 mRNA expression was found in all the breast cancer cell lines, the expression was significantly higher in MDA-MB-231...
January 31, 2018: Oncology
Ewa Oclon, Gili Solomon, Zvi Hayouka, Tomer Meir Salame, Vincent Goffin, Arieh Gertler
To provide new tools for in vitro and in vivo prolactin (PRL) research, novel protocols for large-scale preparation of untagged human PRL (hPRL), a hPRL antagonist (del 1-9-G129R hPRL) that acts as a pure antagonist of hPRL in binding to hPRL receptor extracellular domain (hPRLR-ECD), and hPRLR-ECD are demonstrated. The interaction of del 1-9-G129R hPRL with hPRLR-ECD was demonstrated by competitive non-radioactive binding assay using biotinylated hPRL as the ligand and hPRLR-ECD as the receptor, by formation of stable 1:1 complexes with hPRLR-ECD under non-denaturing conditions using size-exclusion chromatography, and by surface plasmon resonance methodology...
December 21, 2017: Protein Engineering, Design & Selection: PEDS
Baptiste Pignon, Hugo Peyre, Andrei Szöke, Pierre A Geoffroy, Benjamin Rolland, Renaud Jardri, Pierre Thomas, Guillaume Vaiva, Jean-Luc Roelandt, Imane Benradia, Hélène Behal, Franck Schürhoff, Ali Amad
OBJECTIVE: Individuals with psychotic symptoms may actually correspond to various subgroups, characterized by different patterns of psychotic symptoms as well as specific sociodemographic and clinical correlates. We aimed to identify groups of individuals from the general population with specific patterns of psychotic symptoms. METHODS: In a 38,694-subject survey, a latent class analysis was performed to identify subgroups based on the distribution of seven psychotic symptoms taken from the Mini International Neuropsychiatric Interview...
December 1, 2017: Australian and New Zealand Journal of Psychiatry
M Wang, S Ji, G Shao, J Zhang, K Zhao, Z Wang, A Wu
PURPOSE: Exosomes are gradually detected as an indicator for diagnosis and prognosis of breast cancer in clinic and a systematic review was conducted. METHODS: A search for clinical studies published before July 1, 2017 was performed. Methods of exosome purification and identification from all studies were extracted. For diagnosis evaluation, the comparison of exosome biomarkers expression between breast cancer patients and healthy women was obtained; for prognosis prediction, the correlation between exosome biomarkers expression and chemotherapy resistance, overall survival (OS), disease-free survival (DFS), recurrence and metastasis of breast cancer was also extracted...
November 15, 2017: Clinical & Translational Oncology
Kyung Yeon Lee, Eunsim Shin
PURPOSE: Recent advancements in molecular techniques have greatly contributed to the discovery of genetic causes of unexplained developmental delay. Here, we describe the results of array comparative genomic hybridization (CGH) and the clinical features of 27 patients with global developmental delay. METHODS: We included 27 children who fulfilled the following criteria: Korean children under 6 years with global developmental delay; children who had at least one or more physical or neurological problem other than global developmental delay; and patients in whom both array CGH and G-banded karyotyping tests were performed...
September 2017: Korean Journal of Pediatrics
Ioannis Mitroulis, Lan-Sun Chen, Rashim Pal Singh, Ioannis Kourtzelis, Matina Economopoulou, Tetsuhiro Kajikawa, Maria Troullinaki, Athanasios Ziogas, Klara Ruppova, Kavita Hosur, Tomoki Maekawa, Baomei Wang, Pallavi Subramanian, Torsten Tonn, Panayotis Verginis, Malte von Bonin, Manja Wobus, Martin Bornhäuser, Tatyana Grinenko, Marianna Di Scala, Andres Hidalgo, Ben Wielockx, George Hajishengallis, Triantafyllos Chavakis
Hematopoietic stem cells (HSCs) remain mostly quiescent under steady-state conditions but switch to a proliferative state following hematopoietic stress, e.g., bone marrow (BM) injury, transplantation, or systemic infection and inflammation. The homeostatic balance between quiescence, self-renewal, and differentiation of HSCs is strongly dependent on their interactions with cells that constitute a specialized microanatomical environment in the BM known as the HSC niche. Here, we identified the secreted extracellular matrix protein Del-1 as a component and regulator of the HSC niche...
October 2, 2017: Journal of Clinical Investigation
Julie Jacob, Peter Stalmans
Objetivo: El objetivo principal del presente estudio consistió en determinar la prevalencia de los cambios en la interfase vitreomacular (IVM) mediante tomografía de coherencia óptica (OCT) en la población general. En segundo lugar, se describieron otros cambios de la OCT. Métodos: Las anomalías en la IVM se diagnosticaron mediante OCT y se distribuyeron de acuerdo con la clasificación del grupo International Vitreomacular Traction Study (estudio internacional de tracción vitreomacular, IVTS, por sus siglas en inglés) y se dividieron en 3 grados según John et al...
July 11, 2017: Ophthalmologica. Journal International D'ophtalmologie
Matthias Folwaczny, Evangelia Karnesi, Tamara Berger, Ekaterini Paschos
This clinical study aimed to determine whether periodontal disease is associated with expression of developmental endothelial locus-1 (Del-1) and pentraxin-3 (PTX-3), endogenous inhibitors of leukocyte extravasation in humans. Expression of DEL1, PTX3, interleukin-17A (IL17A), and lymphocyte function-associated antigen-1 (LFA1) was determined, using RT-PCR and melting curve analysis, in biopsies of gingival tissues from 95 patients: 42 with moderate periodontitis; 40 with severe periodontitis; and 13 healthy controls...
June 23, 2017: European Journal of Oral Sciences
Lorena Fernández Palacios, Elsa Barrientos Augustinus, Carolina Raudales Urquía, Carmen Frontela Saseta, Gaspar Ros Berruezo
Introduction: Child malnutrition remains a serious public health problem in Honduras, with a national prevalence according to the World Health Organization (WHO) reference values of 29% in children under fi ve. In addition, the average chronic malnutrition in the region amounts to 80% in poor and indigenous communities, making Honduras the second country in Central America with the highest incidence of chronic malnutrition. Another problem of the region is the early cessation of exclusive breastfeeding: only 29...
June 5, 2017: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Anne Klotzsche-von Ameln, Sebastian Cremer, Jedrzej Hoffmann, Peggy Schuster, Sherif Khedr, Irina Korovina, Maria Troullinaki, Ales Neuwirth, David Sprott, Antonios Chatzigeorgiou, Matina Economopoulou, Alessia Orlandi, Andreas Hain, Andreas M Zeiher, Andreas Deussen, George Hajishengallis, Stefanie Dimmeler, Triantafyllos Chavakis, Emmanouil Chavakis
We have recently identified endothelial cell-secreted developmental endothelial locus-1 (Del-1) as an endogenous inhibitor of β2-integrin-dependent leukocyte infiltration. Del-1 was previously also implicated in angiogenesis. Here, we addressed the role of endogenously produced Del-1 in ischaemia-related angiogenesis. Intriguingly, Del-1-deficient mice displayed increased neovascularisation in two independent ischaemic models (retinopathy of prematurity and hind-limb ischaemia), as compared to Del-1-proficient mice...
June 2, 2017: Thrombosis and Haemostasis
Tian-Ying Chen, Bing Wang, Yu-Ying Wu, Jia-Long Wen, Chuan-Fu Liu, Tong-Qi Yuan, Run-Cang Sun
To better understand the variations of structural characteristics of lignin macromolecules during different growth years of Triploid of Populus tomentosa Carr, a novel lignin isolation procedure based on double ball-milling and enzymatic hydrolysis (DEL) was proposed in this study. The morphological distributions of lignin in the plant cell wall of these poplar wood samples were monitored by Confocal Raman Microscopy (CRM). The ultrahigh yields (105.1%-111.2%) of DELs were significantly higher than those (24...
August 2017: International Journal of Biological Macromolecules
Akemi Kakino, Yoshiko Fujita, Atsushi Nakano, Sayaka Horiuchi, Tatsuya Sawamura
BACKGROUND: Modified low-density lipoprotein (LDL) binding to scavenger receptors has been implicated in atherosclerosis. It is hypothesized that a third molecule may affect modified LDL binding, therefore, this study focuses on the soluble endogenous protein, developmental endothelial locus-1 (Del-1), as an inhibitor of oxidized LDL (oxLDL) interactions.Methods and Results:Del-1 preferentially bound oxLDL over native LDL in a cell-free binding assay. Del-1 also inhibited DiI-labeled oxLDL uptake by scavenger receptors irrespective of the receptor type (LOX-1, SR-AI, CD36, or SR-BI) expressed in COS-7 cells, and independent of cell type (human coronary artery endothelial cells (HCAECs) or THP-1-derived macrophages)...
November 25, 2016: Circulation Journal: Official Journal of the Japanese Circulation Society
Francisco Javier Valero Chávez, Luis Miguel Luengo Pérez, Javier Cubero Juánez
Introducción: ante las nuevas implicaciones atribuidas a la vitamina D y la asociación con enfermedades tales como el cáncer, diabetes, enfermedades cardiovasculares, autoinmunes y mortalidad, no es de extrañar que se haya defendido la medición de los niveles de vitamina D en la población general. Sin embargo, no existen datos experimentales que demuestren la viabilidad y rentabilidad de la estrategia de cribado en la población y tampoco se ha comprobado la existencia de beneficios para la salud, por lo que en la actualidad solo es aconsejable la medida de 25 (OH) vitamina D en los grupos de personas de alto riesgo como indican las guías clínicas internacionales...
September 20, 2016: Nutrición Hospitalaria: Organo Oficial de la Sociedad Española de Nutrición Parenteral y Enteral
Eigil Kjeldsen
The t(12;21)(p13;q22) with ETV6-RUNX1 fusion occurs in 25% of cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL); and is generally associated with favorable prognosis. However, 15-20% of the t(12;21)-positive cases are associated with high-risk disease due to for example slow early responses to therapy. It is well-known that development of overt leukemia in t(12;21)-positive ALL requires secondary chromosomal aberrations although the full spectrum of these cytogenetic alterations is yet unsettled, and also, how they may be associated with disease outcome...
December 20, 2016: Gene
E P Nuzhnyi, A F Yakimovskii, A A Timofeeva, T S Usenko, M A Nikolaev, A K Emelyanov, V I Amosov, E V Bubnova, A M Boukina, E Yu Zakharova, S N Pchelina
Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical features of the unusual extrapyramidal syndrome was identified. A role of CLN3 mutations in the development of neurodegenerative disorders is discussed.
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
Mingjie Lu, Yuqing Lu, Huanhuan Li, Cuili Pan, Yong Guo, Jinpeng Zhang, Xinming Yang, Xiuquan Li, Weihua Liu, Lihui Li
Wheat-Agropyron cristatum 7P disomic addition line Ⅱ-5-1, derived from the distant hybridization between A. cristatum (2n = 4x = 28, PPPP) and the common wheat cv. Fukuhokomugi (Fukuho), displays numerous desirable agronomic traits, including enhanced thousand-grain weight, smaller flag leaf, and enhanced tolerance to drought. In order to transfer these traits into common wheat, Ⅱ-5-1 was induced by 60Co-γ ray, leading to the creation of 18 translocation lines and three deletion lines. Genomic in situ hybridization (GISH) and fluorescence in situ hybridization (FISH) indicated that multiple wheat chromosomes were involved in the translocation events, including chromosome 2A, 3A, 5A, 7A, 3B, 5B, 7B, 3D and 7D...
2016: PloS One
Erwin Brosens, Florian Marsch, Elisabeth M de Jong, Hitisha P Zaveri, Alina C Hilger, Vera Gisela Choinitzki, Alice Hölscher, Per Hoffmann, Stefan Herms, Thomas M Boemers, Benno M Ure, Martin Lacher, Michael Ludwig, Bert H Eussen, Robert M van der Helm, Hannie Douben, Diane Van Opstal, Rene M H Wijnen, H Berna Beverloo, Yolande van Bever, Alice S Brooks, Hanneke IJsselstijn, Daryl A Scott, Johannes Schumacher, Dick Tibboel, Heiko Reutter, Annelies de Klein
Oesophageal atresia (OA) with or without tracheoesophageal fistula (TOF) are rare anatomical congenital malformations whose cause is unknown in over 90% of patients. A genetic background is suggested, and among the reported genetic defects are copy number variations (CNVs). We hypothesized that CNVs contribute to OA/TOF development. Quantifying their prevalence could aid in genetic diagnosis and clinical care strategies. Therefore, we profiled 375 patients in a combined Dutch, American and German cohort via genomic microarray and compared the CNV profiles with their unaffected parents and published control cohorts...
December 2016: European Journal of Human Genetics: EJHG
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