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https://www.readbyqxmd.com/read/28647733/role-of-mesenchymal-stem-cells-in-bone-regenerative-medicine-what-is-the-evidence
#1
Ahmad Oryan, Amir Kamali, Ali Moshiri, Mohamadreza Baghaban Eslaminejad
Healing and regeneration of bone injuries, particularly those that are associated with large bone defects, are a complicated process. There is growing interest in the application of osteoinductive and osteogenic growth factors and mesenchymal stem cells (MSCs) in order to significantly improve bone repair and regeneration. MSCs are multipotent stromal stem cells that can be harvested from many different sources and differentiated into a variety of cell types, such as preosteogenic chondroblasts and osteoblasts...
June 24, 2017: Cells, Tissues, Organs
https://www.readbyqxmd.com/read/28647693/recognition-investigation-and-management-of-mitochondrial-disease
#2
REVIEW
James E Davison, Shamima Rahman
Mitochondria are dynamic organelles present in virtually all human cells that are needed for a multitude of cellular functions, including energy production, control of cell apoptosis and numerous biochemical catabolic and synthetic pathways that are critical for cellular health. Primary mitochondrial disorders are a group of greater than 200 single gene defects arising from two genomes (nuclear and mitochondrial) leading to mitochondrial dysfunction, and are associated with extremely heterogeneous phenotypes...
June 24, 2017: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28647401/human-papillomavirus-infection-increases-the-chemoradiation-response-of-esophageal-squamous-cell-carcinoma-based-on-p53-mutation
#3
Dakai Zhang, Wei Zhang, Wenzhi Liu, Yu Mao, Zhanzhao Fu, Jia Liu, Wei Huang, Zicheng Zhang, Dianzheng An, Baosheng Li
BACKGROUND AND PURPOSE: A retrospective study was carried out to analyze multiple prognostic predictors, including human papillomavirus (HPV) infection for chemoradiation treatment of esophageal squamous cell carcinoma (ESCC). MATERIALS AND METHODS: DNA extracted from a total of 192 patients treated with chemoradiation for locally advanced ESCC was examined to determine HPV status by polymerase chain reaction (PCR) and P53 gene mutation by genetic sequencing. The relationships between the chemoradiation response (CRR) and overall survival (OS) rate with HPV status and P53 gene mutation were analyzed...
June 21, 2017: Radiotherapy and Oncology: Journal of the European Society for Therapeutic Radiology and Oncology
https://www.readbyqxmd.com/read/28647110/success-of-tardive-electroconvulsive-therapy-sessions-after-loxapine-induced-malignant-syndrome-in-the-context-of-very-poor-metabolisation
#4
Juliette Descoeur, Laurent Philibert, Kevin Chalard, Jérôme Attal, Pierre Petit, Kada Klouche, Mathieu Olivier
We report the success of tardive electroconvulsive therapy in a case of loxapine malignant syndrome with catatonia. Loxapine and its metabolites were measured in biological samples by liquid chromatography coupled to tandem mass spectrometry. Genes were studied by sequencing and quantitative polymerase chain reaction (PCR). Plasmatic drug concentrations showed a supratherapeutic concentration of loxapine with a very low 8-hydroxyloxapine/loxapine ratio (range from 0.32 to 0.66, normal value>2 for 100mg) and a very long elimination half-life of loxapine (half-life>140h, normal value from 1 to 4hours)...
May 29, 2017: Thérapie
https://www.readbyqxmd.com/read/28647092/regulating-secretory-proteostasis-through-the-unfolded-protein-response-from-function-to-therapy
#5
REVIEW
Lars Plate, R Luke Wiseman
Imbalances in secretory proteostasis induced by genetic, environmental, or aging-related insults are pathologically associated with etiologically diverse protein misfolding diseases. To protect the secretory proteome from these insults, organisms evolved stress-responsive signaling pathways that regulate the composition and activity of biologic pathways involved in secretory proteostasis maintenance. The most prominent of these is the endoplasmic reticulum (ER) unfolded protein response (UPR), which functions to regulate ER proteostasis in response to ER stress...
June 21, 2017: Trends in Cell Biology
https://www.readbyqxmd.com/read/28646968/congenital-cytomegalovirus-who-when-what-with-and-why-to-treat
#6
Yinru Lim, Hermione Lyall
Congenital cytomegalovirus (CMV) is the commonest cause of congenital infection worldwide and the leading non-genetic cause of sensorineural hearing loss in children. Appropriate investigations and timely decision on treatment is required as studies have shown that treatment with antiviral therapy leads to improved hearing and neurodevelopmental outcomes in the long term when started in the first month of life. This paper outlines the epidemiology, investigations in the diagnosis of congenital CMV infection and current evidence surrounding treatment...
June 2017: Journal of Infection
https://www.readbyqxmd.com/read/28646744/systematic-biobanking-novel-imaging-techniques-and-advanced-molecular-analysis-for-precise-tumor-diagnosis-and-therapy-the-polish-mobit-project
#7
Jacek Niklinski, Adam Kretowski, Marcin Moniuszko, Joanna Reszec, Anna Michalska-Falkowska, Magdalena Niemira, Michal Ciborowski, Radoslaw Charkiewicz, Dorota Jurgilewicz, Miroslaw Kozlowski, Rodryg Ramlau, Cezary Piwkowski, Miroslaw Kwasniewski, Monika Kaczmarek, Andrzej Ciereszko, Tomasz Wasniewski, Robert Mroz, Wojciech Naumnik, Ewa Sierko, Magdalena Paczkowska, Joanna Kisluk, Anetta Sulewska, Adam Cybulski, Zenon Mariak, Boguslaw Kedra, Jacek Szamatowicz, Paweł Kurzawa, Lukasz Minarowski, Angelika Edyta Charkiewicz, Barbara Mroczko, Jolanta Malyszko, Christian Manegold, Lothar Pilz, Heike Allgayer, Mohammed L Abba, Hartmut Juhl, Frauke Koch
Personalized and precision medicine is gaining recognition due to the limitations by standard diagnosis and treatment; many areas of medicine, from cancer to psychiatry, are moving towards tailored and individualized treatment for patients based on their clinical characteristics and genetic signatures as well as novel imaging techniques. Advances in whole genome sequencing have led to identification of genes involved in a variety of diseases. Moreover, biomarkers indicating severity of disease or susceptibility to treatment are increasingly being characterized...
June 21, 2017: Advances in Medical Sciences
https://www.readbyqxmd.com/read/28646693/antibacterial-effect-of-genetically-engineered-bacteriophage-%C3%AF-ef11-%C3%AF-fl1c-%C3%AE-36-p-nisa-on-dentin-infected-with-antibiotic-resistant-enterococcus-faecalis
#8
Justine Monnerat Tinoco, Nadia Liss, Hongming Zhang, Roni Nissan, Wanda Gordon, Eduardo Tinoco, Luciana Sassone, Roy Stevens
OBJECTIVE: Enterococcus faecalis is a gram-positive facultative anaerobic bacterium, which is present in 30-89% of teeth with postendodontic treatment failures. E. faecalis is capable of penetrating dentinal tubules and surviving as a monoculture after conventional endodontic therapy, indicating that it is resistant to commonly used endodontic disinfection protocols. Different E. faecalis strains have shown resistance to several antibiotics, and have been associated with both dental pathology and systemic infections...
June 12, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28646478/newborn-screening-for-fabry-disease-in-the-north-west-of-spain
#9
Cristobal Colon, Saida Ortolano, Cristina Melcon-Crespo, Jose V Alvarez, Olalla E Lopez-Suarez, Maria L Couce, José R Fernández-Lorenzo
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of α-galactosidase A enzymatic activity and GLA gene sequencing...
June 23, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28646392/the-changing-landscape-of-alopecia-areata-the-translational-landscape
#10
REVIEW
Etienne C E Wang, Angela M Christiano
Recent genetic and preclinical studies have increased our understanding of the immunopathogenesis of alopecia areata (AA). This has allowed expedited development of targeted therapies for the treatment of AA, and a paradigm shift in our approach and understanding of autoimmunity and the hair follicle. The synergy between preclinical studies, animal models, and translational studies has led to unprecedented advances in the treatment options for AA, ultimately benefiting patients who have had little recourse...
June 23, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28645468/aldhs-in-normal-and-malignant-hematopoietic-cells-potential-new-avenues-for-treatment-of-aml-and-other-blood-cancers
#11
Maura Gasparetto, Clayton A Smith
Multiple studies have demonstrated that ALDH1A1 is elevated in hematopoietic stem cells (HSCs). As a means to better characterize such cells, we previously developed the fluorescent ALDH1A1 substrate Aldefluor to facilitate HSC identification and isolation. This has proven useful for counting and isolating HSCs from human bone marrow, peripheral blood and cord blood as well as stem cells in other tissues and organisms. Given the high level expression of ALDH1A1, we explored its biology and that of other ALDHs in HSCs and found that ALDH1A1 and ALDH3A1 were important in metabolizing reactive aldehydes (RAlds) and reactive oxygen species (ROS)...
June 20, 2017: Chemico-biological Interactions
https://www.readbyqxmd.com/read/28644430/the-clinical-landscape-for-sma-in-a-new-therapeutic-era
#12
REVIEW
K Talbot, E F Tizzano
Despite significant advances in basic research, the treatment of degenerative diseases of the nervous system remains one of the greatest challenges for translational medicine. The childhood onset motor neuron disorder spinal muscular atrophy (SMA) has been viewed as one of the more tractable targets for molecular therapy, due to a detailed understanding of the molecular genetic basis of the disease. In SMA, inactivating mutations in the SMN1 gene can be partially compensated for by limited expression of SMN protein from a variable number of copies of the SMN2 gene, which provides both a molecular explanation for phenotypic severity and a target for therapy...
June 23, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28644154/acute-promyelocytic-leukemia-and-chronic-lymphocytic-leukemia-concomitant-presentation-of-two-molecularly-distinct-entities
#13
Jingdong Su, Diana Veillon, Rodney Shackelford, James Cotelingam, Hazem El-Osta, Glenn Mills, Reinhold Munker, Srinivas Devarakonda
Acute myeloid leukemia (AML) developing in patients with chronic lymphocytic leukemia (CLL) is very uncommon and usually associated with prior treatment. Acute promyelocytic leukemia (APL) accounts for a very small proportion of treatment-associated AML. So far, there has been only one reported case of APL occurring post radiation for prostate cancer in a patient with CLL. We report herein the first case of APL and CLL presenting concomitantly in an untreated patient. Evaluation of peripheral blood and bone marrow aspirate with immunohistochemistry, flow cytometry, and FISH to confirm two morphologically, molecularly and genetically distinct leukemic populations characteristic of APL and CLL is required...
May 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28644148/5-azacytidine-promotes-invadopodia-formation-and-tumor-metastasis-through-the-upregulation-of-pi3k-in-ovarian-cancer-cells
#14
Dan Cao, Dan Li, Yong Huang, Yu Ma, Binglan Zhang, Chengjian Zhao, Senyi Deng, Min Luo, Tao Yin, Yu-Quan Wei, Wei Wang
The high incidence of metastasis accounts for most of the lethality of ovarian cancer. Invadopodia are small, specialized types of machinery that degrade the extracellular matrix and are thus involved in the invasion and metastasis of cancer cells. The formation of invadopodia is regulated by both genetic and epigenetic factors. However, the ways by which methylation/demethylation regulates the dynamics of invadopodia in ovarian cancer are largely unknown. In this study, we found that the inhibition of methylation by 5-AZ (5-Azacytidine) increased the formation of invadopodia and enhanced degradation of the extracellular matrix in ovarian cancer cells...
June 20, 2017: Oncotarget
https://www.readbyqxmd.com/read/28644138/comparative-analysis-of-primary-versus-relapse-refractory-dlbcl-identifies-shifts-in-mutation-spectrum
#15
Danielle M Greenawalt, Winnie S Liang, Sakina Saif, Justin Johnson, Petar Todorov, Austin Dulak, Daniel Enriquez, Rebecca Halperin, Ambar Ahmed, Vladislav Saveliev, John Carpten, David Craig, J Carl Barrett, Brian Dougherty, Michael Zinda, Stephen Fawell, Jonathan R Dry, Kate Byth
Current understanding of the mutation spectrum of relapsed/refractory (RR) tumors is limited. We performed whole exome sequencing (WES) on 47 diffuse large B cell lymphoma (DLBCL) tumors that persisted after R-CHOP treatment, 8 matched to primary biopsies. We compared genomic alterations from the RR cohort against two treatment-naïve DLBCL cohorts (n=112). While the overall number and types of mutations did not differ significantly, we identified frequency changes in DLBCL driver genes. The overall frequency of MYD88 mutant samples increased (12% to 19%), but we noted a decrease in p...
June 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28643992/recent-perspectives-of-molecular-aberrations-in-pediatric-high-grade-glioma
#16
Zhengwei Li, Qingzeng Sun, Yingchun Shi
Paediatric high-grade glioma (HGG), including diffuse intrinsic pontine glioma (DIPG) are highly aggressive tumours with no effective cures. Lack of understanding of the molecular biology of these tumours, in part due to lack of well-characterized pre-clinical models, is a great challenge in the development of novel therapies. Recent studies have shown that paediatric HGG short-term cell cultures retain many of the tumour characteristics in vivo and at present one of the best choices for in-vivo experimental studies...
June 22, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28643915/preface-to-coast-2016-innovators-workshop-on-personalized-and-precision-orthodontic-therapy
#17
J C Nickel, D A Covell, S A Frazier-Bowers, S Kapila, S S Huja, L R Iwasaki
OBJECTIVE: A second focused workshop explored how to transfer novel findings into clinical orthodontic practice. SETTING AND SAMPLE POPULATION: Participants met in West Palm Beach (Florida, USA), on 9-11 September 2016 for the Consortium for Orthodontic Advances in Science and Technology 2016 Innovators' Workshop (COAST). Approximately 65 registered attendees considered and discussed information from 27 to 34 speakers, 8 to 15 poster presenters and four lunch-hour focus group leaders...
June 2017: Orthodontics & Craniofacial Research
https://www.readbyqxmd.com/read/28643793/genomic-rearrangements-in-sporadic-lymphangioleiomyomatosis-an-evolving-genetic-story
#18
Stephen J Murphy, Simone B Terra, Faye R Harris, Aqsa Nasir, Jesse S Voss, James B Smadbeck, Sarah H Johnson, Vishnu Serla, Jay H Ryu, Eunhee S Yi, Benjamin R Kipp, George Vasmatzis, Eva M Carmona
Sporadic lymphangioleiomyomatosis is a progressive pulmonary cystic disease resulting from the infiltration of smooth muscle-like lymphangioleiomyomatosis cells into the lung. The migratory/metastasizing properties of the lymphangioleiomyomatosis cell together with the presence of somatic mutations, primarily in the tuberous sclerosis complex gene (TSC2), lead many to consider this a low-grade malignancy. As malignant tumors characteristically accumulate somatic structural variations, which have not been well studied in sporadic lymphangioleiomyomatosis, we utilized mate pair sequencing to define structural variations within laser capture microdissected enriched lymphangioleiomyomatosis cell populations from five sporadic lymphangioleiomyomatosis patients...
June 23, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28643494/identification-of-pathogenic-variants-in-the-chm-gene-in-two-korean-patients-with-choroideremia
#19
Kunho Bae, Ju Sun Song, Chung Lee, Nayoung K D Kim, Woong Yang Park, Byoung Joon Kim, Chang Seok Ki, Sang Jin Kim
Choroideremia is a rare X-linked disorder causing progressive chorioretinal atrophy. Affected patients develop night blindness with progressive peripheral vision loss and eventual blindness. Herein, we report two Korean families with choroideremia. Multimodal imaging studies showed that the probands had progressive loss of visual field with characteristic chorioretinal atrophy, while electroretinography demonstrated nearly extinguished cone and rod responses compatible with choroideremia. Sanger sequencing of all coding exons and flanking intronic regions of the CHM gene revealed a novel small deletion at a splice site (c...
September 2017: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/28643173/immunotherapy-and-targeted-therapy-for-small-cell-lung-cancer-there-is-hope
#20
REVIEW
Jonathan M Lehman, Mary E Gwin, Pierre P Massion
Small cell lung cancer (SCLC) is a devastating and aggressive neuroendocrine carcinoma of the lung. It accounts for ~15% of lung cancer mortality and has had no improvement in standard treatment options for nearly 30 years. However, there is now hope for change with new therapies and modalities of therapy. Immunotherapies and checkpoint inhibitors are entering clinical practice, selected targeted therapies show promise, and "smart bomb"-based drug/radioconjugates have led to good response in early clinical trials...
July 2017: Current Oncology Reports
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