tbuckley/cabot-search huggingface dataset:
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
Authors: C A Warner, H W Yoo, A G Roberts, R J Desnick
Journal: Journal of Clinical Investigation (1992)

Congenital erythropoietic porphyria (CEP), an inborn error of heme biosynthesis, results from the deficient activity of uroporphyrinogen III synthase (URO-synthase). This autosomal recessive disorder is heterogeneous; patients with severe disease are often transfusion dependent, while milder patients primarily have cutaneous involvement. To investigate this phenotypic heterogeneity, exonic point mutations in the URO-synthase gene were identified in unrelated CEP patients. Four missense mutations were identified: (a) an A to G transition of nucleotide (nt) 184 that predicted a Thr to Ala substitution at residue 62 (designated T62A); (b) a C to T transition of nt 197 that encoded an Ala to Val replacement at residue 66 (A66V); (c) a T to C transition of nt 217 that predicted a Cys to Arg substitution at residue 73 (C73R); and (d) a C to T transition of nt 683 that resulted in a Thr to Met replacement at residue 228 (T228M). In addition, a G to A transition of nt 27 that did not change the encoded amino acid (A9A) was detected in an African patient. The T62A, C73R, and T228M alleles did not express detectable enzymatic activity, while the A66V allele expressed residual, but unstable activity. The C73R allele was present in eight of 21 unrelated CEP patients (21% of CEP alleles). In three patients, identification of both alleles permitted genotype-phenotype correlations; the A66V/C73R, T228M/C73R, and C73R/C73R genotypes had mild, moderately severe, and severe disease, respectively. These findings provide the first genotype-phenotype correlations and permit molecular heterozygote detection in this inherited porphyria.
Manuscripts Approved for JNCI, November 1 to December 1, 1966
Journal: JNCI Journal of the National Cancer Institute (1967)

Journal Article Manuscripts Approved for JNCI, November 1 to December 1, 1966 Get access JNCI: Journal of the National Cancer Institute, Volume 38, Issue 1, January 1967, Pages 111–112, https://doi.org/10.1093/jnci/38.1.111-a Published: 01 January 1967
Illustrations of Exceptional Symptoms and Examples of Rare Forms of Disease
Authors: J. Hutchinson
Journal: BMJ (1886)

0 _~~~~~~~~~~W i-fV Y,rhage' occurs, and blood is vomited.In a case which I saw some tinme ago with Dr. Wilson Fox, the symptom had suggested the presence of ulcer of the stomach, but theJfurther even,s of the case clearly dembnstrated the uterine origin of the malady.Uterine sickness is not unfTequently very severe in cases of dys- meuorrhces, and is, indeed, -a distinct part of the:dysmenorrhcea pre- sent ulnder these ciroumstances.When so associated with the men- strual period,.its uterine origin is more obvious.. B.1utit would appear, fromi observation of cases under my notice, that uterine sickness occurrip g at non-menstrual periods iL more comniou than it has been generally supposed to be, and that many cases of obstinate and severe sipkness are consequently a.ttributed to other causes when the uterus isxreally at fault.Ta.king all cases of uterine disease, my case-books show that marked sickness occurs in 11 to 14-per cent. of all cases of uterine disease applying for relief.It must be pointed otit that severe iuterine sick- ness is a symptom which is not one of very common occurrence.In a niinor cLegree, it is not unfrequent.Presence of this severe form of reflex irxitation imnplies, in, all; probability, a diseased condition, not ply of the uterus, but of thq nerve-centres ; and the reason why it is.more intense in some cases than in others is doubtless dependent on the nerve-centres being exzcssively excitable ini same instances, while they are less so in others; This supposition is confimied by the i4huical history of cases.)S&condary Sltarvation.-Thecontinual prese4ice of this reflex.sym-ptom, uterine vomiting, has one effect to wliich ve;y prominent atten- tiop must be direated, I, mean tlae starvati'on, which it induces and brings about.When the, food is.c9nstant-y-bought up anad rejected, 4t is of but little ~avaptage to, the patient.The condition is practi- cal4y the same as if xno food at.allwere givon. (One pf the patients had I9st 5 stone in.weight.-Unless..i,-the very -severe, cases, however sometimues the food remains long enough in the-'stomach for somethirg to be extracted for nutrition purposes,, or the rejection is not complete, and tle starvation is; therefore, in less degree.-$lut in these cases, the actual amount retained is so far below the daily requirement, that a chronic starvation ensues, and, a certain, but gradual, diminution in 'w,eight occurs from 'week to week.This feature of the case is often not at first recognised.Further, there is the influence of the repugnance to Ipod, nausea at thp idea-of taking food, which;is a symptom in many cases.This prevents the patient even trying to help berself, and the attempts to take nourishment are finally almost given up.This state of things grows on the patient, so to.speak.At-first the sickness is
Why not "I" and "we"?
Authors: C. G. Roland
Journal: JAMA (1968)

Recently, among his criticisms of a manuscript, aJournalconsultant included this comment: "The paper [submitted by two investigators] is written in the first person plural, which is poor form except in the case of direct reporting of a speaker's text." When a psychiatric journal published an article in which the author used the first person singular throughout, the editors apologized in a footnote for this departure from "normal" journal practice. At many governemnt institutions researchers receive instructions to report their work using an impersonal style. These examples represent a common attitude today: that "I" and "we" are inappropriate to the literature of science. Why should this be so? Neither Dr. King nor I accept this stricture on the first person pronoun. We not only deny that "I" and "we" should be interdicted, we believe that the words are often preferable to the artificial circumlocutions necessary to avoid the first-person
Induction of transient macroapertures in endothelial cells through RhoA inhibition by <i>Staphylococcus aureus</i> factors
Authors: Laurent Boyer, Anne Doye, Monica Rolando, Gilles Flatau, Patrick Munro, Pierre Gounon, René Clément, Céline Pulcini, Michel R. Popoff, Amel Mettouchi, Luce Landraud, Olivier Dussurget, Emmanuel Lemichez
Journal: The Journal of Experimental Medicine (2006)
Prevalence of antibodies to EB virus and other herpesviruses
Authors: D. D. Porter
Journal: JAMA (1969)

Serum samples from 224 children of low socioeconomic status and from 281 children and 120 young adults of high socioeconomic status were evaluated for immunofluorescent antibodies to EB virus and for complement-fixing antibodies to herpes simplex virus and to cytomegalovirus. Regardless of socioeconomic status, approximately 45% of children 7 to 24 months of age were found to have antibody to EB virus, and by 4 to 7 years of age, the percentage of children with antibody approximated that of 73% to 90% found in the adults. Children of a low socioeconomic status had a slightly higher prevalence of EB antibody, and a markedly higher prevalence of herpes simplex antibody, than those of a high socioeconomic status. This study indicates that infection with EB virus occurs much earlier and more commonly in children than infections with herpes simplex virus and cytomegalovirus do.
STEM-12. DOWNREGULATION OF H-FERRITIN EXPRESSION USING MULTIVALENT CATIONIC LIPOSOMES RESULTS IN INCREASED RADIATION SENSITIVITY IN PATIENT DERIVED GLIOMA INITIATING CELLS
Authors: Vagisha Ravi, Achuthamangalam Madhankumar, Becky Slagle-Webb, James Connor
Journal: Neuro-Oncology (2018)

Glioblastoma is the most prevalent and lethal primary brain tumor with a dismal survival rate. The glioma initiating cell (GIC) population within glioblastomas has been associated with treatment resistance and subsequently been implicated in tumor recurrence. Studies from our lab had previously shown that expression of the heavy chain subunit of the iron storage protein ferritin, H-ferritin, is essential for the survival and therapeutic resistance of non-stem glioma cells. Since H-ferritin is overexpressed in GICs, we hypothesized that downregulating its expression in these cells would lead to increased radiosensitivity. We thus developed a novel strategy to sensitize GICs to radiation therapy using a multivalent cationic liposome formulation that could efficiently transfect and deliver H-ferritin siRNA to GICs in vitro. Using patient derived pro-neural T3691 and mesenchymal T387 CD133+ GICs we showed that downregulating H-ferritin led to increased LDH release as well as executioner caspase 3/7 activity in both GIC subtypes. We also found a significant decrease in the levels of Tom 20, a mitochondrial outer membrane protein, indicating reduced mitochondrial mass. However, upon radiation at 8Gy we found that T3691 but not T387 cells showed a significant decrease in cell viability. Upon further investigation we found that knockdown of H-ferritin led to elevated expression of the DNA damage response protein phospho-ϒH2AX to a much higher extent in T387 GICs (9.2 fold) compared to T3691 GICs (3.3 fold) suggesting that these cells might be able to repair DNA damage more efficiently than the pro-neural subtype and thus remain radiation resistant even after H-ferritin loss. Thus, we have demonstrated that loss of H-ferritin in pro-neural GICs leads to increased radiation sensitivity presumably through induction of mitophagy and increased DNA damage. Ongoing studies are focused on further determining the mechanisms through which H-ferritin loss mediates this effect in pro-neural but not mesenchymal GICs.
PROSPECTUS
Journal: JAMA (1971)

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
WILLARD PARKER (1800-1884) NEW YORK PHYSICIAN AND SURGEON
Journal: JAMA (1966)

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
Sentinel-Node Biopsy Offers Benefit in Melanoma
Journal: Cancer Discovery (2014)

Abstract Result of the phase III MLST-I clinical trial showed significantly higher 10-year disease-free survival rates for patients with intermediate-thickness or thick melanomas who had treatment based on results of a sentinel-node biopsy, compared with patients whose lymph nodes were monitored during clinical exams for signs of spreading disease. However, there was no significant treatment-related difference in 10-year melanoma-specific survival in the overall study population.
Fascinating Rhythm
Authors: Leo J Bingley
Journal: JAMA (2004)

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
Sedation With Dexmedetomidine vs Lorazepam in Mechanically Ventilated Patients
Authors: Hannah Wunsch
Journal: JAMA (2008)

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
Large Sella
Authors: A. Alan Chambers
Journal: JAMA (1979)

<h3>Common</h3> Pituitary tumor (eg, chromophobe adenoma) Craniopharyngioma Aneurysm of the internal carotid artery Empty sella Increased intracranial pressure Juxtasellar tumor (eg, chiasmatic glioma) Osteoporosis <h3>Rare</h3> Basal encephalocele Chondroma Chordoma Cretinism Hurler's syndrome Hypogonadism Metastatic neoplasm Mucocele of sphenoid sinus Sphenoid sinus neoplasm Neurofibromatosis with dysplastic changes Osteomyelitis Postoperative change <h3>Comment</h3> The details of sellar anatomy are essential for diagnosis and treatment of pituitary lesions.<sup>1</sup>Roentgenograms of the sella must be carefully taken, since rotated views lead to misinterpretation. On a lateral film, the maximum normal measurements of the sella are 17 mm from tuberculum to dorsum and 14 mm in depth. The floor of the sella is often difficult to see, even on the best quality posteroanterior view. It should measure 10 to 15 mm in transverse diameter. Volumetric measurements
Immunosuppressive Effect of Zidovudine
Authors: Gavin X. McLeod
Journal: Annals of Internal Medicine (1993)

Letters1 April 1993Immunosuppressive Effect of ZidovudineGavin X. McLeod, MD and Scott M. Hammer, MDGavin X. McLeod, MDSearch for more papers by this author and Scott M. Hammer, MDSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-118-7-199304010-00024 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail IN RESPONSE:Chapnick and colleagues have described another case of zidovudine-induced hepatitis, emphasizing this rare but possible side effect. In our review [1], we also cite four cases of severe liver dysfunction that occurred in patients in AIDS Clinical Trial Groups (ACTG) studies who were receiving zidovudine (notification from Division of AIDS, National Institute of Allergy and Infectious Diseases, to ACTG investigators, 14 November 1991). These patients were all women in an early stage of HIV infection and had not developed the acquired immunodeficiency syndrome (AIDS). Three of these patients died of liver failure; fatty liver changes were noted on ...References1. McLeod GX, Hammer SM. Zidovudine: five years later. Ann Intern Med. 1992; 117:487-501. Google Scholar2. Lane HC, Falloon J, Walker RE, Deyton L, Kovacs JA, Masur H, et al. Zidovudine in patients with human immunodeficiency virus (HIV) and Kaposi sarcoma: a phase II randomized, placebo-controlled trial. Ann Intern Med. 1989; 111:41-50. Google Scholar3. McKinney RE, Maha MA, Connor EM, Feinberg J, Scott GB, Wulfsohn M, et al. A multicenter trial of oral zidovudine in children with advanced human immunodeficiency virus disease. N Engl J Med. 1991; 324:1018-25. Google Scholar Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 April 1993Volume 118, Issue 7Page: 571-572KeywordsAIDSCellsFatty liverHIV infectionsHepatitisImmunosuppressivesInfectious diseasesLiver diseasesPathogenesisPsoriasis Issue Published: 1 April 1993 Copyright & PermissionsCopyright © 1993 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
Ansell v. Tait
Journal: BMJ (1894)

Thank you for your interest in spreading the word about The BMJ.NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address. Username * Your Email * Send To * You are going to email the following Ansell v. Tait Your Personal Message CAPTCHA This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
PHYSICAL CULTURE AND MEDICINE.
Journal: JAMA (1901)

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
Renal failure after angiography
Authors: Robert A. Mason, Leonard A. Arbeit, Fabio Giron
Journal: JAMA (1985)

<h3>In Reply.—</h3> Our study indicated that angiography with hyperosmotic contrast agents was associated with a transient but significant fall in creatinine clearance in approximately one third of patients. We could demonstrate no relation between the dosage of contrast or the baseline renal function and the postangiography fall in creatinine clearance. Those patients (N=22) with a serum creatinine level of more than 1.5 mg/dL received an average of 102 mL (67 g of diatrizoate meglumine) of contrast material and demonstrated a 36% incidence of a significant reduction in creatinine clearance. Similarly, the 98 patients with a baseline serum creatinine level of 1.5 mg/dL or less received an average of 106 mL (63 g) of contrast material and had a 30% incidence of a significant fall in creatinine clearance. Likewise, a subset of patients whose baseline creatinine clearance was less than 50 mL/min (N=20) received a mean of 108 mL (68 g)
Immune aspects of renal diseases
Authors: K. P. Mathews
Journal: JAMA (1982)

IMMUNOLOGIC renal injury can be mediated by immune complexes or by free antibody that interacts with native or tissue-bound antigen. <h3>RENAL DISEASE MEDIATED BY IMMUNE COMPLEXES</h3> The most common mechanism of renal injury involves deposition of immune reactants in the kidney. Circulating immune complexes must have certain physical and biologic properties to be able to localize in tissues and cause injury. Complexes of large size, for example, those at equivalence, are poorly soluble and disposed of by cells of the mononuclear-phagocyte system. Complexes of very small size, formed in extreme antigen excess, are soluble and have limited nephrotoxicity because they do not fix complement. Complexes that are formed in slight antigen excess are both soluble and able to fix complement; such complexes may be nephrotoxic. Whenever appropriate antibodies interact with antigen, the complement system may be activated. Activation of the complement system can lead to alterations in vascular permeability (and
DOES LEFT ATRIAL APPENDAGE CLOSURE IMPROVE THE SUCCESS OF PULMONARY VEIN ISOLATION? RESULTS OF A RANDOMIZED CLINICAL TRIAL
Authors: Alexander Romanov, Evgeny Pokushalov, Sergey Artemenko, Akmal Yakubov, Ilya Stenin, Evgeny Kretov, Oleg Krestianinov, Igor Grazhdankin, Dejan Risteski, Alexander Karaskov, Jonathan Steinberg
Journal: Journal of the American College of Cardiology (2016)
Precision of genotyping of Epstein-Barr virus by polymerase chain reaction using three gene loci (EBNA-2, EBNA-3C, and EBER): predominance of type A virus associated with Hodgkin's disease [published erratum appears in Blood 1993 Oct 1;82(7):2268]
Authors: JC Lin, SC Lin, BK De, WC Chan, BL Evatt, WC] Chan WP [corrected to Chan
Journal: Blood (1993)
The pharmacokinetics, pharmacodynamics, and short-term safety of cilofexor, a nonsteroidal farnesoid X receptor agonist, in subjects with hepatic impairment
Authors: Chia-Hsiang Hsueh, Andrew Billin, Shirley Li, Stephen Lin, Deqing Xiao, Chuhan Chung, Robert Myers, Elijah Weber, Cara Nelson
Journal: Journal of Hepatology (2020)
Error in Text
Authors: David Brent, Giovanna Porta
Journal: JAMA Psychiatry (2019)

Thomas Nordahl Christensen, PhD; Iben Gammelgård Wallstrøm, PhD; Elsebeth Stenager, PhD; Anders Bo Bojesen, MSc; Christian Gluud, Dr.Med.Sci; Merete Nordentoft, Dr.Med.Sci; Lene Falgaard Eplov, PhD