tbuckley/cabot-search huggingface dataset:
Brief Report: Whole‐Exome Sequencing Revealing Somatic <i>NLRP3</i> Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
Authors: Ebun Omoyinmi, Sónia Melo Gomes, Ariane Standing, Dorota M. Rowczenio, Despina Eleftheriou, Nigel Klein, Juan I. Aróstegui, Helen J. Lachmann, Philip N. Hawkins, Paul A. Brogan
Journal: Arthritis & Rheumatology (2013)

Objective To identify the genetic cause of chronic infantile neurologic, cutaneous, articular syndrome (CINCA syndrome) using whole‐exome sequencing in a child who had typical clinical features but who was NLRP3 mutation negative based on conventional Sanger sequencing. Methods We performed whole‐exome sequencing on DNA from peripheral blood, using Illumina TruSeq Exome capture and the HiSeq sequencing platform. Exome data were analyzed in the Galaxy Web‐based suite. Whole‐exome sequencing findings were confirmed by massively parallel sequencing. Results Analysis of variants in known autoinflammatory genes led to the identification of the pathogenic p.F556L NLRP3 missense mutation in 17.7% of Illumina reads (25 of 141). No new candidate genes were identified. Massively parallel sequencing of DNA from peripheral blood (performed in duplicate) unequivocally confirmed the presence of this mutation in 14.5% of alleles. Reexamination of the original Sanger chromatograms revealed a small peak at nucleotide position c.1698 corresponding to the mutated allele. This had initially been regarded as background noise, but in retrospect is completely consistent with somatic mosaicism for the p.F556L NLRP3 mutation in this child with CINCA syndrome. Conclusion This is the first description of somatic NLRP3 mosaicism detected using whole‐exome sequencing in a “mutation‐negative” patient with CINCA syndrome. Our findings suggest that whole‐exome sequencing could be an important diagnostic tool for detecting somatic mosaicism, as well as for the discovery of novel causative gene mutations, in patients with clinical features of cryopyrin‐associated periodic syndromes who are NLRP3 mutation negative by conventional sequencing. This approach could also be applicable to patients with other autosomal‐dominant autoinflammatory diseases characterized by gain‐of‐function mutations who are mutation negative by conventional Sanger sequencing.
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis
Authors: Supak Jenkitkasemwong, Chia-Yu Wang, Richard Coffey, Wei Zhang, Alan Chan, Thomas Biel, Jae-Sung Kim, Shintaro Hojyo, Toshiyuki Fukada, Mitchell D. Knutson
Journal: Cell Metabolism (2015)
An unusual treatment: Feeding the fish
Authors: J. Cohen
Journal: BMJ (2000)

working closely with practitioners to explore issues in a practical context, the researcher gained more insight into how the rhetoric of policy might be better translated into reality. ConclusionsAction research does not focus exclusively on user and carer involvement, though clearly its participatory principles makes it an obvious choice to explore these issues.It can be used more widely-to foster better practice across interprofessional boundaries and between different healthcare settings, for example. 14 23It can also be used by clinicians to research their own practice. 10It is an eclectic approach to research and draws on a variety of data collection methods.The focus on the process as well as the outcomes of change helps to explain the frequent use of qualitative methods by action researchers.
Abstract 3088: The Resting Electrocardiogram in Type 2 Diabetes: A Useful Screening Tool for Asymptomatic Coronary Artery Disease?
Authors: Philip R Martinez, Safia Abdillahi, Jeanine May, Tara A Wardrop, Rebecca Carman, Jeffrey Darna, Janice A Davey, Lawrence H Young, Frans J Wackers, Deborah A Chyun
Journal: Circulation (2006)

Despite the high risk of asymptomatic coronary artery disease (CAD) in diabetes (DM), factors identifying individuals who might benefit from CAD screening have not yet been identified. Abnormalitie...
Instantaneous Wave-Free Ratio or Fractional Flow Reserve Without Hyperemia
Authors: Nico H.J. Pijls, Marcel Van ‘t Veer, Keith G. Oldroyd, Colin Berry, William F. Fearon, Petr Kala, Otakar Bocek, Nils Witt, Bernard De Bruyne, Stelios Pyxaras
Journal: Journal of the American College of Cardiology (2012)
Abstract IA18: Adoptive T-cell transfer for metastatic melanoma: What are the relevant antigens?
Authors: James C. Yang
Journal: Cancer Research (2015)

Abstract The transfer of cultured tumor-reactive T-cells into patients with metastatic melanoma can cause tumor regressions when other immunotherapies have failed. A single transfer of T-cells can mediate complete and durable regressions in some patients. The two main sources of T-cells for transfer have been from the native T-cells infiltrating the tumor (tumor infiltrating lymphocytes; TIL) or from peripheral blood lymphocytes retrovirally engineered with a tumor-reactive T-cell receptor (TCR). In the latter situation, a variety of tumor-associated antigens have been targeted with cloned receptors and although responses are seen, in some cases unacceptable toxicity has occurred due to on-target, off-tumor immune recognition. Although melanoma TIL often contain T-cells that also target the same nominal antigens, their transfer is rarely associated with such undesirable toxicities. In addition, melanoma TIL frequently contain T-cells which recognize the autochthonous tumor, while TIL from other tumors infrequently show this reactivity. Recent data have implicated the presence of abundant tumor-specific mutations in melanoma as the explanation for these various observations. These appear to be significant antigenic targets in therapeutic TIL that cause no collateral damage, and their high frequency as shown by tumor exomic sequencing of melanomas may explain that tumor's high degree of natural immunogenicity. These lessons learned from studying T-cell transfer for melanoma can now be applied to other cancers and a recent example has demonstrated the potential and promise of this approach. Citation Format: James C. Yang. Adoptive T-cell transfer for metastatic melanoma: What are the relevant antigens? [abstract]. In: Proceedings of the AACR Special Conference on Advances in Melanoma: From Biology to Therapy; Sep 20-23, 2014; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(14 Suppl):Abstract nr IA18.
Characterization of the continuous, differentiating myeloid cell line (HL-60) from a patient with acute promyelocytic leukemia
Authors: R Gallagher, S Collins, J Trujillo, K McCredie, M Ahearn, S Tsai, R Metzgar, G Aulakh, R Ting, F Ruscetti, R Gallo
Journal: Blood (1979)
Prognostic factors in Waldenström macroglobulinemia: a report on 232 patients with the description of a new scoring system and its validation on 253 other patients
Authors: Pierre Morel, Mathieu Monconduit, Dominique Jacomy, Pascal Lenain, Bernard Grosbois, Christine Bateli, Thierry Facon, Isabelle Dervite, Francis Bauters, Albert Najman, Aimery de Gramont, Eric Wattel
Journal: Blood (2000)
Akne hastalarında diyet glisemik indeksi ve glukoz, insülin, insülin benzeri büyüme faktörü-I, insülin benzeri büyüme faktörünü bağlayan protein 3 ve leptin düzeyleri
Authors: Yesim Kaymak, Esra Adisen, Nilsel Ilter, Aysun Bideci, Demet Gurler ve Bulent Celik Ankara
Journal: Journal of the American Academy of Dermatology (2008)
Diagnosis and posttreatment follow-up of Helicobacter pylori-positive gastric lymphoma of mucosa-associated lymphoid tissue: histology, polymerase chain reaction, or both?
Authors: A Savio, G Franzin, AC Wotherspoon, G Zamboni, R Negrini, F Buffoli, TC Diss, L Pan, PG Isaacson
Journal: Blood (1996)
799. Initial Characterization of a Super-Permissive Cell Line for Adeno-Associated Virus (AAV): Microarray-Intimated CK2 Helps AAV Replication
Authors: Hong You, Yong Liu, Jawahar L. Mehta, Paul L. Hermonat
Journal: Molecular Therapy (2004)

Adeno-associated virus (AAV) infection is negatively associated with cervical cancer and is being used as a human gene therapy vector. However, AAV is very selective as to the specific conditions under which it replicates. The identification of cellular genes involved in AAV replication will allow for a better understanding of AAV's molecular biology and AAV's oncoprotective phenotype, as well as allow for the easier generation of recombinant (r)AAV for gene therapy. Here we identify a primary cervical cancer cell line, PT3, which allowed for 10 fold higher AAV DNA replication levels than other isolates and normal primary keratinocytes. Microarray gene expression comparative analysis of PT3 cells to others identified many differences in gene expression. Casein kinase 2 (CK2) was found to be the most highly expressed protein kinase in PT3 cells. Following this lead CK2 stimulated AAV DNA replication in normal keratinocyte-based organotypic epithelial rafts (skin) both as an expressed cDNA ( subunit) or as transfected protein. CK2 also phosphorylated the AAV encoded Rep78, major replication/regulatory protein in vitro. These data suggest that CK2 may be a cellular helper gene for AAV, possibly through phosphorylating Rep78. However, the number of genes identified by microarray comparative analysis suggested that, in addition to UP-regulated genes such as CK2, the genes which are DOWN-regulated might also be significant for AAV replication as four fold more such down-regulated genes were identified.
The Spark of Life
Authors: Christine Borland
Journal: BMJ (2001)

No, no, no, a little more humanity please. That's what much of contemporary British art wants to say to 21st century medicine, and it's the message to be gleaned from Christine Borland's sparkling new show. Allied to the Hirst generation, and just as fascinated by death as the man with the shark, Borland concentrates on genetics, on the beginnings of life, an interest strengthened by an association with Glasgow University's Department of Genetics.

This is displayed to stunning effect in the new show, the centrepieces of which …
Abstract 3805: Anticancer agent HJC0416 inhibits the growth of breast cancer xenografts via downregulating STAT3 signaling
Authors: Ailian Xiong, Haijun Chen, Zhengduo Yang, Guoshuai Cai, Lili Wang, Chunyong Ding, Grace G. Xu, Christopher Wild, Na Ye, Ivan P. Uray, Jia Zhou, Qiang Shen
Journal: Cancer Research (2014)

Abstract Signal transducers and activators of transcription (STATs) play important roles in regulating the expression of genes activated during tumorigenesis. Particularly, STAT3 has been shown to contribute significantly in breast carcinogenesis and is often overexpressed in primary breast tumors. Increased STAT3 transcriptional activity is correlated with ER-negative phenotype in breast cancer cell lines and in primary invasive ductal breast carcinomas. Therefore, STAT3 emerges as a promising target for breast cancer treatment and prevention. We have designed, synthesized and screened a series of novel STAT3 inhibitors utilizing fragment-based drug design strategy. A number of small molecules with novel scaffolds have been discovered with low-micromolar to nanomolar potency in inhibiting the proliferation of various human breast cancer and pancreatic cancer cells. The identified compound HJC0416 significantly suppresses STAT3 promoter activity and STAT3 phosphorylation, reduces total STAT3 protein expression, induces cell growth arrest and early apoptosis in triple-negative breast cancer cell line MDA-MB-231. HJC0416 also demonstrated a better efficacy in suppressing the growth of MDA-MB-231 breast xenograft tumors via intraperitoneal and oral administrative routes, with remarkably improved aqueous solubility and less toxicity than the lead compounds. We further demonstrated that p70S6K and MAPK pathways mediate the inhibitory effects from HJC0416 via downregulating RPS6, PDCD4 and EEF2K proteins. In conclusion, the new anticancer agent HJC0416 inhibits the growth of breast cancer xenografts via suppressing STAT3 expression and its phosphorylation. Citation Format: Ailian Xiong, Haijun Chen, Zhengduo Yang, Guoshuai Cai, Lili Wang, Chunyong Ding, Grace G. Xu, Christopher Wild, Na Ye, Ivan P. Uray, Jia Zhou, Qiang Shen. Anticancer agent HJC0416 inhibits the growth of breast cancer xenografts via downregulating STAT3 signaling. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 3805. doi:10.1158/1538-7445.AM2014-3805
Abstract 11859: Maternal High Fat Diet Exaggerates Atherosclerosis Development in Adult Offspring by Augmenting Periaortic Adipose Tissue-Specific Proinflammatory Response
Authors: Noriyuki Wakana, Daisuke Irie, Masakazu Kikai, Kensuke Terada, Keita Yamamoto, Taku Kato, Hiroyuki Kawahito, Hiroyuki Yamada
Journal: Circulation (2014)

BACKGROUND:  Maternal high-fat diet has an impact on offspring’s metabolic disorders; however, its effect on atherogenesis remains undefined.   METHOD AND RESULT:  Eight-week-old male and female apoE-/- mice were mated and fed a high-fat diet (HFD) or chow diet (CD). Eight-weeks-old offspring of both groups were fed a high-cholesterol diet until 20 weeks of age. Male offspring obtained from dams fed a HFD (OH mice) showed a 2.1-fold increase in atherosclerotic lesion of entire aorta compared with those from dams fed a CD (OC mice). Unexpectedly, inflammatory response in epididymal white adipose tissue, assessed by mRNA expressions of TNF-α, IL-6, and MCP-1 and accumulation of Mac-2-positive cells, was less in OH mice than in OC mice. In contrast, thoracic periaortic adipose tissue (tPAT) in OH mice showed an exaggerated inflammatory response compared with OC mice. To investigate the causal effect of tPAT-specific inflammatory response on atherosclerosis development, tPAT grafts were harvested from 8-week-old OH or OC mice and transplanted into 20-week-old recipient apoE-/- mice along with the infrarenal aorta. Eight weeks after transplantation, apoE-/- mice receiving tPAT from OH mice showed a 2.1 fold-increase in atherosclerotic lesion area of infrarenal aorta (P   CONCLUSION:  Our findings demonstrate that maternal high-fat diet exaggerates atherosclerosis development in adult offspring by augmenting tPAT-specific inflammatory response preceding by enhanced expression of M-CSF. Developmentally regulated M-CSF expression in tPAT provide a new insight into the mechanisms of fetal programming of adult atherosclerotic diseases.
PERSISTENT TACHYCARDIA CAUSED BY SNAKE VENOM
Authors: W H GLASS
Journal: Annals of Internal Medicine (1949)

Case Reports1 September 1949PERSISTENT TACHYCARDIA CAUSED BY SNAKE VENOMW. H. GLASS, M.D.W. H. GLASS, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-31-3-517 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe venom of the water moccasin snake (Ancistrodon piscivorus) is used with some frequency in a heterogeneous group of diseases manifesting excess bleeding. Pecke and Rosenthal1 reported enthusiastically about its beneficial effects in epistaxis of long standing, excess uterine bleeding, Osler's disease (hereditary hemorrhagic multiple telangiectasis), and various forms of purpura based on either toxic, allergic, or endocrinal abnormality. They state categorically that there are no contraindications to snake venom therapy. The venom was given subcutaneously for systemic effects in their series of cases, as has become the accepted procedure.The venom of the Fer-de-lance (Bothrops atrox) is packaged and...Bibliography1. PECKEROSENTHAL SMN: Effect of moccasin snake venom (Ancistrodon piscivorus) in hemorrhagic conditions, Jr. Am. Med. Assoc., 1935, civ, 13. Google Scholar2. MACHT DI: Recent development in pharmacology of cobra venom, Med. Rec., 1941, cliii, 369-375. Google Scholar3. ESSEX HE: Certain animal venoms and their physiologic action, Physiol. Rev., 1945, xxv, 148-170. CrossrefGoogle Scholar4. BROWN RV: The effects of water moccasin venom on dogs, Am. Jr. Physiol., 1941, cxxxiv, 202-207. CrossrefGoogle Scholar5. BROWN RV: The action of water moccasin venom on the isolated frog heart, Am. Jr. Physiol., 1945, cxxxviii, 613-619. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Hartford, Connecticut*Received for publication April 11, 1947. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 September 1949Volume 31, Issue 3Page: 517-519KeywordsAllergic diseasesGenetic diseasesHemorrhageTachycardiaVenoms ePublished: 1 December 2008 Issue Published: 1 September 1949 PDF downloadLoading ...
Abstract 18766: Trastuzumab Cardiomyopathy is Prevented by the Administration of Ranolazine at the End of Antineoplastic Treatment in Model Mouse
Authors: Carmela Coppola, Giovanna Piscopo, Francesca Galletta, Carlo Maurea, Domenica Rea, Claudio Arra, Nicola Maurea
Journal: Circulation (2014)

Introduction: Trastuzumab (TRAS), an anti-ErbB2 inhibitor, is the foundation of care for patients with HER2-positive breast cancer. Cardiovascular complications due to TRAS are a growing problem in clinical practice that may frustrate modern oncological outcome of therapy (asymptomatic left ventricular dysfunction and heart failure). The mechanisms of cardiotoxicity of TRAS have not been fully elucidated and can include changes in Ca2+ regulation related to blockade of ErbB2 and PI3K-Akt and MAPK pathways. Hypothesis: Here, we aim at assessing whether Ranolazine (RAN), administered after TRAS treatment, blunts TRAS cardiotoxicity in vivo. Methods: To evaluate cardiac function in vivo, fractional shortening (FS) and ejection fraction (EF) were measured by M/B mode echocardiography and radial and longitudinal strain (RS and LS) were measured using 2D speckle-tracking echocardiography, in C57/BL6 mice, 2-4 mo old, at day 0, and after 2 and 7 days of daily administration of TRAS (2.25 mg/kg/day, ip). These measurements were repeated after 5 days of RAN treatment (305 mg/Kg/day, gavage, dose comparable with that used in humans of 750 mg twice) initiated at the end of TRAS treatment. Results: In our in vivo studies, after 7 days with TRAS, FS decreased to 48.7±4.1%, p&lt;0.01 vs 62.3±0.8% (sham), EF to 81.8±3.5%, p&lt;0.01 vs 91.7±0.5% (sham), RS to 21±8.1%, p&lt;0.01 vs 43.2±4% (sham), and LS to -11±3.7%, p&lt;0.01 vs -38.8±6% (sham). In mice treated with RAN for 5 days after TRAS treatment, the indices of cardiac function recovered: FS was 61±1.2%, EF was 91±0.7%, p&lt;0.01; RS was 21±8.1%, p&lt;0.05 vs TRAS+RAN. However the alteration of LS persists after treatment with RAN (-15.4±5.1%, p=0.3 vs TRAS+RAN). Conclusions: RAN post-treatment blunts cardiotoxic effects due to TRAS, as demonstrated by the normalization of the values of FS, EF and RS. The explanation for the persistent abnormalities of LS could be that the subendocardial fibers, responsible for the alteration of LS, are the first to impair and may be the last to recover.
931. Enhanced Cardiac Muscle Contractility Achieved by Engineered Zinc Finger Transcriptional Repressors of Phospholamban
Authors: H. Steven Zhang, Lei Zhang, Yuxin Liang, Reed Hickey, Dmitry Guschin, Simon Chandler, Mike Kunis, Linda Hinh, Dengfeng Xia, Xiaohong Zhong, S. Kaye Spratt, J. Tyler Martin, Casey C. Case, Frank J. Giordano, Philip D. Gregory, Edward J. Rebar
Journal: Molecular Therapy (2004)
House Restricts Abortion
Authors: Mike Mitka
Journal: JAMA (2005)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome
Authors: Vafa Alakbarzade, Abdul Hameed, Debra Q Y Quek, Barry A Chioza, Emma L Baple, Amaury Cazenave-Gassiot, Long N Nguyen, Markus R Wenk, Arshia Q Ahmad, Ajith Sreekantan-Nair, Michael N Weedon, Phil Rich, Michael A Patton, Thomas T Warner, David L Silver, Andrew H Crosby
Journal: Nature Genetics (2015)
Mental disorders in the nursing home: another perspective
Authors: P N Tariot, C A Podgorski, L Blazina, A Leibovici
Journal: American Journal of Psychiatry (1993)

Many studies of the prevalence of mental disorders among residents of long-term care facilities have had substantial methodological shortcomings. This study was conducted to replicate a previous well-designed study and to examine additional characteristics of nursing home residents.Randomly selected residents (N = 80) in a public long-term care facility were evaluated by a psychiatric team using DSM-III-R criteria and quantitative assessments of behavior and cognitive status.Of the 80 subjects, 91% had at least one psychiatric diagnosis and at least one behavioral problem; 50% had four or more behavioral problems. In addition, 29% had received psychiatric care before admission, and 61% received psychiatric care after admission.These findings replicate those of the few prior studies that used analogous research techniques, but those previous studies were conducted in private, intermediate-care institutions whose residents had different demographic characteristics. The mental health needs of these residents are substantial and should be addressed by the medical community and the nursing home industry.