tbuckley/cabot-search huggingface dataset:
Nonsense Mutations in FGF8 Gene Causing Different Degrees of Human Gonadotropin-Releasing Deficiency
Authors: Ericka B. Trarbach, Ana Paula Abreu, Leticia Ferreira Gontijo Silveira, Heraldo Mendes Garmes, Maria Tereza M. Baptista, Milena Gurgel Teles, Elaine M. F. Costa, Moosa Mohammadi, Nelly Pitteloud, Berenice B. Mendonca, Ana Claudia Latronico
Journal: Endocrine Reviews (2010)

FGFR1 mutations cause isolated hypogonadotropic hypogonadism (IHH) with or without olfactory abnormalities, Kallmann syndrome, and normosmic IHH respectively. Recently, missense mutations in FGF8, a key ligand for fibroblast growth factor (FGF) receptor 1 in the ontogenesis of GnRH, were identified in IHH patients, thus establishing FGF8 as a novel locus for human GnRH deficiency. Our objective was to analyze the clinical, hormonal, and molecular findings of two familial IHH patients due to FGF8 gene mutations. The entire coding region of the FGF8 gene was amplified and sequenced in two well-phenotyped IHH probands and their relatives. Two unique heterozygous nonsense mutations in FGF8 (p.R127X and p.R129X) were identified in two unrelated IHH probands, which were absent in 150 control individuals. These two mutations, mapped to the core domain of FGF8, impact all four human FGF8 isoforms, and lead to the deletion of a large portion of the protein, generating nonfunctional FGF8 ligands. The p.R127X mutation was identified in an 18-yr-old Kallmann syndrome female. Her four affected siblings with normosmic IHH or delayed puberty also carried the p.R127X mutation. Additional developmental anomalies, including cleft lip and palate and neurosensorial deafness, were also present in this family. The p.R129X mutation was identified in a 30-yr-old man with familial normosmic IHH and severe GnRH deficiency. We identified the first nonsense mutations in the FGF8 gene in familial IHH with variable degrees of GnRH deficiency and olfactory phenotypes, confirming that loss-of-function mutations in FGF8 cause human GnRH deficiency.
Abstract 674: Predicting cellular response to therapy in breast cancer using mathematical modeling
Authors: Wei He, Diane M. Demas, Isabel Conde, Yassi Fallah, William T. Baumann, Ayesha N. Shajahan-Haq
Journal: Cancer Research (2019)

Abstract About 70% of all breast cancer tumors are estrogen receptor positive (ER+) and are treated with antiestrogen therapies. While the inevitability of developing resistance to these therapies remains uncontested, little is known about the mechanism and prevention of resistance. Our ultimate goal is to use mathematical modeling to optimize dynamic therapies that decrease proliferation and stave off resistance. In this initial study, we used MCF7 cells as a model of ER+ breast cancer and estrogen deprivation as a surrogate for aromatase inhibitors. We developed long-term estrogen deprived MCF7s (LTEDs) that proliferate similarly to untreated MCF7s but are resistant to antiestrogens. We collected time-course data for simultaneous gene expression and protein levels (NanoString Pan Cancer panel, a non-amplification based digital method) over 6 weeks to capture early molecular adaptations of deprived MCF7s and compare them to those present in LTEDs. PCA analysis of the mRNA and protein data shows a dramatic change in the first component due to estrogen deprivation, and a dramatic change in the second component associated with long-term resistance. Correlation analysis shows a large number of cell cycle genes that are similarly regulated, decreasing with estrogen deprivation and increasing with the onset of resistance. There is also a highly-correlated group of genes associated with resistance. This knowledge allowed us to hypothesize a molecular mechanism for resistance that can be tested experimentally. To begin building a dynamic model, we measured a 7-day time course of estrogen related proteins. The model is built around ER signaling and the cell cycle, and simulates protein and proliferation changes in response to deprivation and antiestrogen (ICI182,780; ICI) treatment. To determine which treatments to model in addition to estrogen deprivation and ICI, we looked for a promising sequential therapy to limit proliferation and, hopefully, stave off resistance compared to a single non-stop therapy. We found that alternating the targeting of CDK4/6 using Palbociclib (clinical anti-cancer therapy) with targeting of RUNX1 (gene that is increased at the onset of resistance in our model), could be a plausible strategy to inhibit endocrine resistance. Future work will involve extending the model to longer time scales and using it for treatment optimization. Citation Format: Wei He, Diane M. Demas, Isabel Conde, Yassi Fallah, William T. Baumann, Ayesha N. Shajahan-Haq. Predicting cellular response to therapy in breast cancer using mathematical modeling [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 674.
Maize Pollen Test Systems to Detect Nondisjunction
Authors: David F. Weber
Journal: Environmental Health Perspectives (1981)

Three pollen test systems to detect the induction of nondisjunction in maize are actively being explored. (1) Each member of a tetrad of haploid microspores produced by meiosis contains a single chromosome 6 which carries the only nucleolar organizing region in the maize genome. Thus, each member of a normal tetrad contains one nucleolus. If nondisjunction took place at the first or second meiotic division, 2:2:0:0 or 2:1:1:0 tetrads would be produced respectively. (2) If a male parent carrying a dominant endosperm marker is crossed by a female carrying a recessive allele of this gene, all normal kernels would be heterozygous and would express the dominant phenotype in their endosperm. If nondisjunction of the chromosome carrying this gene took place at the second microspore division and the nullisomic and disomic sperm fertilized the polar nuclei and egg of a given embryo sac respectively, an exceptional kernel is produced which would express the recessive endosperm phenotype and contain a trisomic embryo. (3) Complementing null mutations of genes expressed in individual pollen grains can be utilized to detect nondisjunction. Normal haploid pollen grains from plants heterozygous for two complementing null alleles of a locus would each express the recessive phenotype. If nondisjunction took place during either meiotic division, disomic pollen grains containing both alleles could be produced expressing the dominant phenotype due to complementation. We are exploring this test system utilizing appropriate alcohol dehydrogenase mutants.
Types of cutaneous reactions to drugs. Importance in recognition of adverse reactions
Authors: R. L. Baer
Journal: JAMA (1967)

It has long been known that clinically recognizable adverse reactions to drugs are seen more often in the skin than in any other organ or system. This observation is substantiated by data, accumulated by the American Medical Association Registry on Adverse Reactions, which show that cutaneous manifestations have been by far the most frequently reported form of adverse reaction. One apparent reason is that skin lesions are so readily observed that both patients and physicians are quickly alerted to their possible association with a drug reaction. Because of their frequency and because their visible characteristics alone serve to separate them into a variety of specific types, cutaneous reactions play a particularly important role in the early recognition of untoward effects produced by drugs. Clinical experience has revealed propensities that certain medicaments have for causing skin reactions of a particular morphological pattern. Known associations of this nature are an important element
The Practitioners Library of Medicine and Surgery. [Supervising editor, George Blumer].
Journal: JAMA (1933)

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
Coeliac disease
Authors: A Ferguson
Journal: Gut (1993)

Non-steroidal anti-inflammatory drug- induced jejunal and colonic diaphragm disease EDITOR, -Fellows and his colleagues (Gut 1992; 33: 1424-6) claim that 'most previously reported cases have shown ileal disease and no case to date has shown involvement of the colon.'We would like to draw your attention to the fact that we published a case of diaphragm disease of the colon in the April issue of Gastroenterology in 1991' several months before the case report of Fellows et al was published in Gut.We were more cautious in asking for priority and we stated 'that to our knowledge such a case had not been observed before.'The caution was indeed justified as we then saw several additional cases in a short time.We submitted this extended case report for publication to a well honoured British journal and we were informed that our cases did not contribute to the better understanding of this established condition.Moreover, Dr H Spiro, the editor of Clinical Gastroenterology, where the paper was subsequently accepted for pub- lication,2 was kind enough to draw our atten- tion to an earlier publication of two such cases in the Lancet, in 1989.Additionally we found a recent report in endoscopic studies.4We thus agree with a Lancet editorial in 1989 that colonic damage by non-steroidal anti- inflammatory drugs is probably very common.5It is of interest that all the seven cases we have seen up to now were treated with diclofenac, applied in slow release form, and it is possible that we have seen a whole series of such cases in less than two years as this drug is manufactured in Switzerland and is the most common non- steroidal anti-inflammatory drug in use in our country.It is nevertheless appreciated
Oxyphenbutazone in pancreatitis
Authors: B. B. Weisiger
Journal: JAMA (1966)

Oxyphenbutazone is a metabolic derivative of phenylbutazone. Experimental work showed this drug to possess an anti-inflammatory action, particularly in arthritic diseases.<sup>1-4</sup>Paulino-Netto and Dreiling found that the drug protected dogs against excessive pancreatic damage in experimentally induced pancreatitis.<sup>5</sup>This finding led us to study the drug in an attempt to determine its possible therapeutic role in the treatment of acute pancreatitis in man. To date, no drugs have been found that directly control the inflammatory process in the pancreas, although other approaches, such as the use of trypsininhibitors, are being sought.<sup>6</sup> <h3>Materials and Methods.—</h3> A double-blind study was conducted with the two study drugs, one of which was a placebo and the other, oxyphenbutazone. The patients receiving the drugs were randomized. The drug was given in addition to routine measures for the treatment of pancreatitis. These measures were varied in a particular patient according to the severity of
The Clinical Application of Esophageal Motility Tests
Journal: JAMA (1963)

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
Prognosis
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
Intravenous Nesiritide vs Nitroglycerin for Treatment of Decompensated Congestive Heart Failure
Journal: JAMA (2002)

Committee for the VMAC Investigators HEART FAILURE OCCURS IN 4.7 million persons living in the United States, 1 and is the discharge diagnosis in approximately 3.5 million hospitalizations annually. 2 Hospitalizations account for 60% of health care expenditures for heart failure. [1]2][3][4][5] Despite its enormous human and economic burden, no new intravenous agents for acutely decompensated congestive heart failure (CHF) have been approved for use in the United States in more than a decade.Furthermore, the rapid relief of symptoms without significant complications or adverse effects of drug therapy have not been addressed previously in patients hospitalized with heart failure.There is increasing recognition that agents with positive inotropic activity can increase mortality despite acute hemodynamic improvement. [6][][8][9][10][11][12][13][14] Current guidelines from the American College of Cardiology and the American Heart Association for management of acutely decompensated CHF and decompensation of chronic CHF without cardiogenic shock advocate use of inotropic agents (dobutamine and dopamine) only if administration of morphine, loop diuretics, sublingual and intravenous nitroglycerin, and nitroprusside provide insufficient improvement. 1Yet, intravenous inotropic agents continue to be used commonly for this syndrome.Nesiritide is a recombinant human brain, or B-type, natriuretic peptide that is identical to the endogenous hormone produced by the ventricle in response to increased wall stress, hypertrophy, and volume overload.Nesiritide has venous, arterial, and coronary vasodilatory properties that reduce preload and afterload, increase cardiac out-A list of the Vasodilation in the Management of Acute CHF (VMAC) Investigators and Financial Disclosures are listed at the end of this article.
Gene replacement therapy for hereditary emphysema?
Authors: A. Skolnick
Journal: JAMA (1989)

FROM 20 000 to 40 000 persons in the United States have α<sub>1</sub>-antitrypsin deficiency, an autosomal recessive disorder that usually leads to emphysema early in life. Recently, therapy has become available that can help prevent the progression of this debilitating, eventually fatal, chronic lung disease. More encouraging, however, are the results of animal studies that suggest human trials of gene therapy to correct this genetic disorder may be only a few years away. Speaking at the American Lung Association's Second Annual Science Writers' Forum in Annapolis, Md, Ronald G. Crystal, MD, chief, Pulmonary Branch, National Heart, Lung, and Blood Institute, Bethesda, Md, offered an explanation of how hereditary emphysema may be more amenable to genetic therapy than possibly such a disease as sickle cell anemia. Most persons who lack a functioning gene for α<sub>1</sub>-antitrypsin will develop emphysema by the third or fourth decade of life. This
Atlas of Internal Medicine and Clinical Diagnosis.
Journal: JAMA (1898)

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 Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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) 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
New York State Library. Yearbook of Legislation, 1904.
Journal: JAMA (1906)

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
Prolonging Skin Transplants With Antigenic Extract
Journal: JAMA (1963)

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
Sumoylation inhibits a-synuclein aggregation and toxicity
Authors: Petranka Krumova, Erik Meulmeester, Manuel Garrido, Marilyn Tirard, He-Hsuan Hsiao, Guillaume Bossis, Henning Urlaub, Markus Zweckstetter, Sebastian Kügler, Frauke Melchior, Mathias Bähr, Jochen H. Weishaupt
Journal: The Journal of Experimental Medicine (2011)
Hodgkin: Update 2018
Authors: Martin Hutchings
Journal: HemaSphere (2018)

Rigshospitalet, Copenhagen, Denmark This is an open access Abstract Book distributed under the Attribution-NonCommercial-NoDerivs (CCBY-NC-ND), which allows third parties to download the abstracts and share them with others as long as they credit the author and the abstract book, but they cannot change the content in any way or use them commercially. http://creativecommons.org/licenses/by-nc-nd/4.0
Nutritional Therapy for High Blood Pressure
Authors: Rose Stamler
Journal: JAMA (1987)

A four-year trial assessed whether less severe hypertensives could discontinue antihypertensive drug therapy, using nutritional means to control blood pressure. Randomization was to three groups: group 1—discontinue drug therapy and reduce overweight, excess salt, and alcohol; group 2—discontinue drug therapy, with no nutritional program; or group 3—continue drug therapy, with no nutritional program. In groups 1 and 2 patients resumed drug therapy if pressure rose to hypertensive levels. Loss of at least 4.5 kg (10+ lb) was maintained by 30% of group 1, with a group mean loss of 1.8 kg (4 lb); sodium intake fell 36% and modest alcohol intake reduction was reported. At four years, 39% in group 1 remained normotensive without drug therapy, compared with 5% in group 2. Study findings demonstrated that nutritional therapy may substitute for drugs in a sizable proportion of hypertensives or, if drugs are still needed, can lessen some unwanted biochemical effects of drug treatment. (<i>JAMA</i>1987;257:1484-1491)