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https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#1
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346423/mob1-yap1-taz-nkx2-1-axis-controls-bronchioalveolar-cell-differentiation-adhesion-and-tumour-formation
#2
K Otsubo, H Goto, M Nishio, K Kawamura, S Yanagi, W Nishie, T Sasaki, T Maehama, H Nishina, K Mimori, T Nakano, H Shimizu, T W Mak, K Nakao, Y Nakanishi, A Suzuki
Mps One Binder Kinase Activator (MOB)1A/1B are core components of the Hippo pathway. These proteins, which coactivate LArge Tumour Suppressor homologue kinases, are also tumour suppressors. To investigate MOB1A/B's roles in normal physiology and lung cancer, we generated doxycycline (Dox)-inducible, bronchioalveolar epithelium-specific, null mutations of MOB1A/B in mice (SPC-rtTA/(tetO)7-Cre/Mob1a(flox/flox)/Mob1b(-/-); termed luMob1DKO mice). Most mutants (70%) receiving Dox in utero (luMob1DKO (E6.5-18.5) mice) died of hypoxia within 1 h post-birth...
March 27, 2017: Oncogene
https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#3
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28346099/development-of-novel-cell-lines-for-high-throughput-screening-to-detect-estrogen-related-receptor-alpha-modulators
#4
Christina T Teng, Jui-Hua Hsieh, Jinghua Zhao, Ruili Huang, Menghang Xia, Negin Martin, Xiaohua Gao, Darlene Dixon, Scott S Auerbach, Kristine L Witt, B Alex Merrick
Estrogen-related receptor alpha (ERRα), the first orphan nuclear receptor discovered, is crucial for the control of cellular energy metabolism. ERRα and its coactivator, peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α), are required for rapid energy production in response to environmental challenges. They have been implicated in the etiology of metabolic disorders such as type 2 diabetes and metabolic syndrome. ERRα also plays a role in the pathogenesis of breast cancer. Identification of compounds that modulate ERRα signaling may elucidate environmental factors associated with these diseases...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28346055/a-to-i-editing-in-disease-is-not-fake-news
#5
Prajakta Bajad, Michael F Jantsch, Liam Keegan, Mary O'Connell
Adenosine deaminases acting on RNA (ADARs) are zinc-containing enzymes that deaminate adenosine bases to inosines within dsRNA regions in transcripts. In short, structured dsRNA hairpins individual adenosine bases may be targeted specifically and edited with up to one hundred percent efficiency, leading to the production of alternative protein variants. However, the majority of editing events occur within longer stretches of dsRNA formed by pairing of repetitive sequences. Here, many different adenosine bases are potential targets but editing efficiency is usually much lower...
March 27, 2017: RNA Biology
https://www.readbyqxmd.com/read/28345485/the-effect-of-tamoxifen-on-thin-endometrium-in-patients-undergoing-frozen-thawed-embryo-transfer
#6
Hanni Ke, Jingjing Jiang, Mingdi Xia, Rong Tang, Yingying Qin, Zi-Jiang Chen
Tamoxifen has played a vital role in endocrine therapy for the treatment of estrogen receptor-positive breast cancer. We examined the effect of tamoxifen in patients with a thin endometrium in frozen-thawed embryo transfer (FET) cycles and compared the improvement in endometrial thickness (EMT) and pregnancy outcomes stratified by different etiologies of thin endometrium. A total of 226 women were recruited for a new tamoxifen protocol; all had an EMT of less than 7.5 mm in previous cycles, including natural cycle (NC), hormone replacement treatment (HRT), and ovulation induction (OI) cycles...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28344966/lower-limb-compartment-syndrome-by-reperfusion-injury-after-treatment-of-arterial-thrombosis-post-laparoscopic-radical-hysterectomy-and-pelvic-lymph-node-dissection-for-cervical-cancer
#7
Jihee Yeon, Ye Won Jung, Shin Seok Yang, Byung Hun Kang, Mina Lee, Young Bok Ko, Jung Bo Yang, Ki Hwan Lee, Heon Jong Yoo
Compartment syndrome is a clinical condition associated with decreased blood circulation that can lead to swelling of tissue in limited space. Several factors including lithotomy position, prolonged surgery, intermittent pneumatic compressor, and reperfusion after treatment of arterial thrombosis may contribute to compartment syndrome. However, compartment syndrome rarely occurs after gynecologic surgery. In this case, the patient was diagnosed as compartment syndrome due to reperfusion injury after treatment of arterial thrombosis, which occurred after laparoscopic radical hysterectomy and pelvic lymph node dissection for cervical cancer...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28344911/spontaneous-tumor-lysis-syndrome-in-small-cell-lung-cancer
#8
Venkatkiran Kanchustambham, Swetha Saladi, Setu Patolia, David Stoeckel
Tumor lysis syndrome (TLS) is a life-threatening oncologic complication caused by the lysis of a vast number of malignant cells resulting in metabolic derangements and organ dysfunction. TLS can occur spontaneously before initiation of any therapies often referred to as spontaneous tumor lysis syndrome (STLS), or shortly after the induction of chemotherapy, radiotherapy, or cytolytic antibody therapy. TLS is vastly seen in patients with hematological malignancies with high rapid cell turnover rates such as Burkitt lymphoma, acute myelogenous leukemia, and acute lymphocytic leukemia, and is rarely observed in solid tumors...
February 8, 2017: Curēus
https://www.readbyqxmd.com/read/28344808/safety-tumor-trafficking-and-immunogenicity-of-chimeric-antigen-receptor-car-t-cells-specific-for-tag-72-in-colorectal-cancer
#9
Kristen M Hege, Emily K Bergsland, George A Fisher, John J Nemunaitis, Robert S Warren, James G McArthur, Andy A Lin, Jeffrey Schlom, Carl H June, Stephen A Sherwin
BACKGROUND: T cells engineered to express chimeric antigen receptors (CARs) have established efficacy in the treatment of B-cell malignancies, but their relevance in solid tumors remains undefined. Here we report results of the first human trials of CAR-T cells in the treatment of solid tumors performed in the 1990s. METHODS: Patients with metastatic colorectal cancer (CRC) were treated in two phase 1 trials with first-generation retroviral transduced CAR-T cells targeting tumor-associated glycoprotein (TAG)-72 and including a CD3-zeta intracellular signaling domain (CART72 cells)...
2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28343156/ectopic-acth-producing-large-cell-neuroendocrine-pancoast-tumour-presenting-as-horner-syndrome
#10
Rajanshu Verma, Alexandra Lambert, Harold H Katz, Scott J Benson
We present an interesting case where a patient is presented with a droopy left eyelid (as part of Horner syndrome) and Cushingoid features which were a result of a Pancoast tumour (apical lung tumour in superior pulmonary sulcus) involving the left lung. This tumour was secreting ectopic adrenocorticotropic hormone (ACTH), a paraneoplastic endocrine phenomenon, which resulted in Cushing syndrome symptomatology. Though most ectopic ACTH-producing lung cancers are either small cell or carcinoid tumours, this was in fact a large cell neuroendocrine cancer (LCNEC)...
March 24, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28342757/role-of-enzymatic-free-radical-scavengers-in-management-of-oxidative-stress-and-autoimmune-disorders
#11
REVIEW
Shikha Srivastava, Deependra Singh, Satish Patel, Manju R Singh
Autoimmune disorders are distinct with over production and accumulation of free radicals due to its undisclosed genesis. The cause of numerous disorders as cancer, arthritis, psoriasis, diabetes, alzheimer's, cardiovascular disease, Parkinson's, respiratory distress syndrome, colitis, crohn's, pulmonary fibrosis, obesity and ageing have been associated with immune dysfunction and oxidative stress. In an oxidative stress, reactive oxygen species generally provoke the series of oxidation at cellular level. The buildup of free radicals in turn triggers various inflammatory cells causing release of various inflammatory interleukins, cytokines, chemokines, and tumor necrosis factors which mediate signal transduction and transcription pathways as nuclear factor- kappa B (NF-κB), signal transducer and activator of transcription 3 (STAT3), hypoxia-inducible factor-1 (HIF-1α) and nuclear factor-erythroid 2-related factor (Nrf2)...
March 22, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28341957/phase-ib-dose-finding-trial-of-lapatinib-plus-pegylated-liposomal-doxorubicin-in-advanced-her2-positive-breast-cancer
#12
Andrea Rocca, Lorenzo Cecconetto, Alessandro Passardi, Elisabetta Melegari, Daniele Andreis, Manuela Monti, Roberta Maltoni, Samanta Sarti, Elisabetta Pietri, Alessio Schirone, Francesco Fabbri, Caterina Donati, Oriana Nanni, Anna Fedeli, Marina Faedi, Dino Amadori
PURPOSE: Combination of anthracyclines with trastuzumab is hampered by cardiotoxicity. Pegylated liposomal doxorubicin and lapatinib could represent a safer alternative to combination therapy. METHODS: In this phase Ib study with 3 + 3 dose escalation design, patients with HER2-positive advanced breast cancer received pegylated liposomal doxorubicin 30 mg/m(2) intravenously on day 1 plus lapatinib 1250 (level 1) or 1500 (level 2) mg/day orally on days 1-21 of each 21-day cycle...
March 24, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28341759/a-phase-ib-study-of-sorafenib-bay-43-9006-in-patients-with-kaposi-sarcoma
#13
Thomas S Uldrick, Priscila H Gonçalves, Kathleen M Wyvill, Cody J Peer, Wendy Bernstein, Karen Aleman, Mark N Polizzotto, David Venzon, Seth M Steinberg, Vickie Marshall, Denise Whitby, Richard F Little, John J Wright, Michelle A Rudek, William D Figg, Robert Yarchoan
LESSONS LEARNED: Oral targeted agents are desirable for treatment of Kaposi sarcoma (KS); however, in patients with HIV, drug-drug interactions must be considered. In this study to treat KS, sorafenib was poorly tolerated at doses less than those approved by the U.S. Food and Drug Administration for hepatocellular carcinoma and other cancers, and showed only modest activity.Sorafenib's metabolism occurs via the CYP3A4 pathway, which is inhibited by ritonavir, a commonly used antiretroviral agent used by most patients in this study...
March 24, 2017: Oncologist
https://www.readbyqxmd.com/read/28340112/long-term-mortality-of-patients-with-an-alcohol-related-wernicke-korsakoff-syndrome
#14
Arantza Sanvisens, Paola Zuluaga, Daniel Fuster, Inmaculada Rivas, Jordi Tor, Miguel Marcos, Antonio J Chamorro, Roberto Muga
Aims: To characterize a series of contemporary patients with alcohol-related Wernicke's encephalopathy (WE) or Korsakoff's syndrome (KS) and to update the current prognosis of disease. Methods: Retrospective and prospective study of patients diagnosed with an alcohol-related WE or KS between 2002 and 2011 in a tertiary hospital. Socio-demographic, alcohol use characteristics, signs and symptoms, co-morbidity and blood parameters were obtained at admission. Patients were followed up until 2013 and causes of death were ascertained through the review of charts...
March 10, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28339994/a-longitudinal-cohort-study-of-the-anti-synthetase-syndrome-increased-severity-of-interstitial-lung-disease-in-black-patients-and-patients-with-anti-pl7-and-anti-pl12-autoantibodies
#15
Iago Pinal-Fernandez, Maria Casal-Dominguez, Julio A Huapaya, Jemima Albayda, Julie J Paik, Cheilonda Johnson, Leann Silhan, Lisa Christopher-Stine, Andrew L Mammen, Sonye K Danoff
Objective.: The aim was to study the prevalence, rate of appearance and severity of clinical features in patients with different anti-synthetase syndrome (ASyS) autoantibodies. Methods.: All Johns Hopkins Myositis Longitudinal Cohort subjects positive for any ASyS autoantibodies were included. Clinical information, including symptoms, signs, strength, creatine kinase concentrations and pulmonary function tests, were prospectively collected. The standardized mortality and cancer rates and the rate of appearance and intensity of the different organ manifestations were assessed using univariate and multivariate analysis and compared between ASyS autoantibodies...
March 4, 2017: Rheumatology
https://www.readbyqxmd.com/read/28339935/nephrotoxicity-of-anticancer-treatment
#16
Jolanta Malyszko, Klaudia Kozlowska, Leszek Kozlowski, Jacek Malyszko
Severe adverse systemic drug events occur commonly as a result of treatment of cancer patients. Nephrotoxicity of chemotherapeutic agents remains a significant complication limiting the efficacy of the treatment. A variety of renal disease and electrolyte disorders can result from the drugs that are used to treat malignant disease. The kidneys are a major elimination pathway for many antineoplastic drugs and their metabolites. Tumour lysis syndrome, an emergency in haematooncology, occurs most often after the initiation of cytotoxic therapy in patients with high-grade lymphomas and acute lymphoblastic leukaemia...
October 6, 2016: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28339660/eculizumab-in-secondary-atypical-haemolytic-uraemic-syndrome
#17
Teresa Cavero, Cristina Rabasco, Antía López, Elena Román, Ana Ávila, Ángel Sevillano, Ana Huerta, Jorge Rojas-Rivera, Carolina Fuentes, Miquel Blasco, Ana Jarque, Alba García, Santiago Mendizabal, Eva Gavela, Manuel Macía, Luis F Quintana, Ana María Romera, Josefa Borrego, Emi Arjona, Mario Espinosa, José Portolés, Carolina Gracia-Iguacel, Emilio González-Parra, Pedro Aljama, Enrique Morales, Mercedes Cao, Santiago Rodríguez de Córdoba, Manuel Praga
Background.: Complement dysregulation occurs in thrombotic microangiopathies (TMAs) other than primary atypical haemolytic uraemic syndrome (aHUS). A few of these patients have been reported previously to be successfully treated with eculizumab. Methods.: We identified 29 patients with so-called secondary aHUS who had received eculizumab at 11 Spanish nephrology centres. Primary outcome was TMA resolution, defined by a normalization of platelet count (>150 × 10 9 /L) and haemoglobin, disappearance of all the markers of microangiopathic haemolytic anaemia (MAHA), and improvement of renal function, with a ≥25% reduction of serum creatinine from the onset of eculizumab administration...
February 20, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28338660/germline-and-somatic-genetics-of-osteosarcoma-connecting-aetiology-biology-and-therapy
#18
REVIEW
D Matthew Gianferante, Lisa Mirabello, Sharon A Savage
Clinical outcomes and treatment modalities for osteosarcoma, the most common primary cancer of bone, have changed very little over the past 30 years. The peak incidence of osteosarcoma occurs during the adolescent growth spurt, which suggests that bone growth and pubertal hormones are important in the aetiology of the disease. Tall stature, high birth weight and certain inherited cancer predisposition syndromes are well-described risk factors for osteosarcoma. Common genetic variants are also associated with osteosarcoma...
March 24, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28338621/optimized-4-5-diarylimidazoles-as-potent-selective-inhibitors-of-protein-kinase-ck1%C3%AE-and-their-structural-relation-to-p38%C3%AE-mapk
#19
Jakob Halekotte, Lydia Witt, Chiara Ianes, Marc Krüger, Mike Bührmann, Daniel Rauh, Christian Pichlo, Elena Brunstein, Andreas Luxenburger, Ulrich Baumann, Uwe Knippschild, Joachim Bischof, Christian Peifer
The involvement of protein kinase CK1δ in the pathogenesis of severe disorders such as Alzheimer's disease, amyotrophic lateral sclerosis, familial advanced sleep phase syndrome, and cancer has dramatically increased interest in the development of effective small molecule inhibitors for both therapeutic application and basic research. Unfortunately, the design of CK1 isoform-specific compounds has proved to be highly complicated due to the existence of six evolutionarily conserved human CK1 members that possess similar, different, or even opposite physiological and pathophysiological implications...
March 24, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28338162/-risk-factor-analysis-of-low-anterior-resection-syndrome-after-anal-sphincter-preserving-surgery-for-rectal-carcinoma
#20
Fan Liu, Peng Guo, Zhanlong Shen, Zhidong Gao, Shan Wang, Yingjiang Ye
OBJECTIVE: To investigate the risk factors of low anterior resection syndrome (LARS) after anal sphincter preserving surgery (SPS) for rectal cancer patients. METHODS: Clinicopathological and follow-up data of rectal cancer patients who underwent SPS from January 2010 to June 2014 in Department of Gastroenterological Surgery, Peking University People's Hospital, were retrospectively analyzed. Patients receiving permanent colostomy and local resection were excluded...
March 25, 2017: Zhonghua Wei Chang Wai Ke za Zhi, Chinese Journal of Gastrointestinal Surgery
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