tbuckley/cabot-search huggingface dataset:
How to Interpret a Genome-wide Association Study
Authors: Thomas A. Pearson, Teri A. Manolio
Journal: JAMA (2008)

Genome-wide association (GWA) studies use high-throughput genotyping technologies to assay hundreds of thousands of single-nucleotide polymorphisms (SNPs) and relate them to clinical conditions and measurable traits. Since 2005, nearly 100 loci for as many as 40 common diseases and traits have been identified and replicated in GWA studies, many in genes not previously suspected of having a role in the disease under study, and some in genomic regions containing no known genes. GWA studies are an important advance in discovering genetic variants influencing disease but also have important limitations, including their potential for false-positive and false-negative results and for biases related to selection of study participants and genotyping errors. Although these studies are clearly many steps removed from actual clinical use, and specific applications of GWA findings in prevention and treatment are actively being pursued, at present these studies mainly represent a valuable discovery tool for examining genomic function and clarifying pathophysiologic mechanisms. This article describes the design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance.
Acute Epiglottitis in Adults
Authors: Timothy D. Frantz
Journal: JAMA (1994)

To characterize the clinical features of acute epiglottitis in adults and to identify factors associated with airway intervention.Case series.Northern California health maintenance organization.A total of 129 patients aged 18 years or older with laryngoscopically confirmed acute epiglottitis admitted from November 1986 through October 1991.The mean patient age was 47 years (range, 18 to 85 years) and the male-to-female ratio was 1.8 to 1.0 (P < .001). The most common symptoms were sore throat (95%) and odynophagia (94%); the most common signs were muffled voice and evidence of pharyngitis. Nineteen patients (15%) received airway intervention, including seven with tracheotomy and 12 with endotracheal intubation. The remaining 110 patients recovered fully without airway intervention. In multivariate analysis, factors associated with airway intervention were stridor (relative risk [RR], 6.2; 95% confidence interval [CI], 1.7 to 22.9) and sitting erect (RR, 4.8; 95% CI, 1.3 to 16.1). Six (12%) of 52 blood cultures yielded Haemophilus influenzae type b. Major complications occurred in six patients (5%), but no deaths occurred.Most adults who have acute epiglottitis can be managed conservatively and have low morbidity and mortality.
SUGGESTIONS FOR THE POSSIBLE CONTROL OF THE AMERICAN SUMMER ENCEPHALITIDES
Authors: William McDowell Hammon
Journal: JAMA (1942)

<h3>To the Editor:—</h3> A recent editorial inThe Journal(New Developments in Knowledge of Encephalitis, October 18, p. 136) reviews recent knowledge of certain "seasonal" encephalitides affecting man. Since the outbreak in Paris, Ill., in 1932, epidemic summer encephalitis, epidemiologically not dissimilar to that occurring in the spring in Russia and to that of the late summer and autumn in Japan and Russia, has become increasingly important as a disease of man in the United States, Canada and Mexico. Approximately 3,000 cases were reported during the summer of 1941. At least three viruses may be responsible for the American outbreaks—that named for the St. Louis epidemic and those of the eastern and western types of equine encephalomyelitis. These three known American viruses are so closely related epidemiologically and clinically that the St. Louis infection should no longer be set apart from the so-called equine diseases either in name or in
Counting the cost of England's NHS reorganisation
Authors: K. Walshe
Journal: BMJ (2014)

Health secretary Jeremy Hunt’s claims of savings of £1bn or £1.5bn a year seem unlikely

Politicians sometimes find themselves having to defend the indefensible. Recently England’s health secretary, Jeremy Hunt, was put in the unenviable position of having to counter criticisms of his predecessor Andrew Lansley’s NHS reorganisation. The charges were made by unnamed sources in Downing Street, who allegedly called the reorganisation the worst mistake of the coalition government and “unintelligible gobbledygook.”1

In defending the NHS changes to the press, Hunt claimed that they had cost £1.5bn (€1.9bn; $2.4bn) to implement but had saved £1bn a year in NHS administrative costs.1 Asked for verification of these figures, the Department of Health press office pointed towards Hunt’s own words in Hansard on 22 July 2014,2 when he said that the expected final costs of the NHS overhaul brought in by the 2012 Health and Social Care Act were “no higher than £1.5 billion” and that “annual savings are still expected to be £1.5 billion from 2014-15.” It is not clear why Hunt this month reduced his claimed annual savings from £1.5bn to £1bn a year.

Let’s take these two claims in turn. The first, about the cost of the actual reorganisation, was carefully examined by the National Audit Office in 2013.3 The …
Empathy: Its Nature and Uses.
Authors: Robert L. Katz
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
Structural and Evolutionary Analysis of the copia-like Elements in the Arabidopsis thaliana Genome
Authors: Javier Terol, Mari Cruz Castillo, Mónica Bargues, Manuel Pérez-Alonso, Rosa de Frutos
Journal: Molecular Biology and Evolution (2001)

The analysis of 460 kb of genomic sequence of Arabidopsis thaliana chromosome III allowed us to identify two new transposable elements named AtC1 and AtC2. AtC1 shows identical long terminal repeats (LTRs) and all the structural features characteristic of the copia-like active elements. AtC2 is also a full copia-like element, but a putative stop codon in the open reading frame (ORF) would produce a truncated protein. In order to identify the copia-like fraction of the A. thaliana genome, a careful computer-based analysis of the available sequences (which correspond to 92% of the genome) was performed. Approximately 300 nonredundant copia-like sequences homologous to AtC1 and AtC2 were detected, which showed an extreme heterogeneity in size and degree of conservation. This number of copies would correspond to approximately 1% of the A. thaliana genome. Seventy-one sequences were selected for further analysis, with 23 of them being full complete elements. Five corresponded to previously described ones, and the remaining ones, named AtC3 to AtC18 are new elements described in this work. Most of these elements presented a putative functional ORF, nearly identical LTRs, and the other elements necessary for retrotransposon activity. Phylogenetic trees, supported by high bootstrap values, indicated that these 23 elements could be considered separate families. In turn, these 23 families could be clustered into six major lineages, named copia I-VI. Most of the 71 analyzed sequences clustered into these six main clades. The widespread presence of these copia-like superfamilies throughout plant genomes is discussed.
Closed mitral valvotomy: early results and long-term follow-up of 3724 consecutive patients.
Authors: S John, V V Bashi, P S Jairaj, S Muralidharan, E Ravikumar, T Rajarajeswari, S Krishnaswami, I P Sukumar, P S Rao
Journal: Circulation (1983)

Between 1956 and 1980 closed mitral valvotomies were performed in 3724 consecutive patients (male:female ratio 1.1:1) with mitral stenoses. Their ages ranged from 6 to 69 years, with a mean (SD) of 27.3 (9.3). Mitral stenosis in the younger age group is a unique condition and a great majority of these patients rapidly develop significant pulmonary hypertension and congestive cardiac failure. In this study a large number of subjects belonged to functional class IV (41.5%). Hospital mortality was 1.5% over the last 5 years. After valvotomy, 11 patients (0.3%) developed severe mitral regurgitation that made valve replacement necessary in the immediate postoperative period. Early postoperative embolism occurred in 0.4% of those who were in atrial fibrillation and had preoperative anticoagulation whereas it occurred in 0.95% of those in sinus rhythm who had no anticoagulation. Late postoperative embolism occurred at a rate of 0.3 to 1.6 per 1000 patients per year over a 20 year period. Rheumatic reactivity occurred at a rate of 1.3 to 2.2 per 1000 patients per year during the same period. Rate of occurrence of restenosis varied from 4.2 to 11.4 per 1000 patients per year between the fifth and fifteenth year of follow-up. Closed transventricular revalvotomy for restenosis was accomplished in 130 subjects with a 6.7% mortality. Excellent symptomatic improvement was evident in 86% of long-term survivors at the end of 15 years. Actuarial survival was 95%, 93.1%, 89.5%, and 84.2% at 6, 12, 18, and 24 years, respectively, after closed mitral valvotomy.(ABSTRACT TRUNCATED AT 250 WORDS)
Medical Ethics
Authors: Tom E. Nesbitt
Journal: JAMA (1981)

NO AREA of medicine is more ancient and established than its ethics—yet more current and alterable. Formalized medical ethics are at least as old as the Code of Hammurabi, King of Babylon. In comparison, the Oath of Hippocrates is a latecomer. Yet, some aspects of ethics change and have to be reconsidered in the light of advances in medicine and changes in law, in custom, and in society's attitudes toward its ways of life and death. Such developments are reflected in the latest revision of the American Medical Association's<i>Opinions and Reports of the Judicial Council</i>, including such topics as test-tube fertilization, fetal research, genetic engineering, euthanasia, and even the moral criteria for medical costs. At the AMA's annual meeting in July 1980, the House of Delegates received an ad hoc committee report on principles of medical ethics, even though countless aspects of ethics seem to allow no final word.
Scientists unveil first draft of human genome
Authors: G. Yamey
Journal: BMJ (2000)

The first working draft of the human genome has been completed ahead of schedule and hailed by Michael Dexter, director of the Wellcome Trust, as “the outstanding achievement not only of our lifetime but in terms of human history.”

The draft maps 97% of the genome, of which 85% has been sequenced with an accuracy of over 99.9% It contains 38000 confirmed genes and 115000 possible genes. The two rival groups competing to be the first to complete the draft joined forces to announce the achievement in Washington, DC, and in London.

Richard Dawkins, professor of the public understanding of science at Oxford University, said: “Along with Bach's music, Shakespeare's sonnets, and the Apollo space programme, the human genome project is one of those achievements of the human spirit that makes me proud …
The giggly girl
Authors: Sundaram V Ramanan
Journal: BMJ (2005)

To prepare for the short cases of the MRCP examination, candidates oftenseek the help of their successful predecessors, usually registrars or senior registrars, who select patients agreeable to being examined. That was howI met the “giggly girl.”

“You'll find Susan in the day room,” the registrar said to me. “She's a friendly sort and will let you examine her. Look at her optic fundi and tell me what you think.”

I walked down the ward and introduced myself to Susan, a cheerful young woman in her 20s. “May I examine your eyes?” I asked.

“Of course, doctor,” she replied, and gave a little laugh. Although I had been asked to examine only the fundi, I thought a quick review of the cranial nerves, including visual acuity and fields, might help. I detected no abnormality, and, adjusting my ophthalmoscope, I bent down to …
Quantitative assessment of hepatocellular function throughin vivo radioreceptor imaging with technetium 99m galactosyl human serum albumin
Authors: Masatoshi Kudo, Akio Todo, Katsuji Ikekubo, Kazutaka Yamamoto, David R. Vera, Robert C. Stadalnik
Journal: Hepatology (1993)

Technetium 99m diethylenetriaminepentaacetic acid-galactosyl human serum albumin is a newly developed analog ligand to asialoglycoprotein receptor, which is a hepatic cell surface receptor specific for galactose-terminated glycoproteins. Hepatic functional imaging, which yields estimates of asialoglycoprotein receptor concentration, was performed after intravenous injection of 3 mg technetium 99m diethylenetriaminepentaacetic acid-galactosyl human serum albumin. A total of 75 human subjects were studied: 6 controls without liver diseases, 51 patients with chronic liver diseases and 18 patients with acute liver diseases. In chronic liver disease the asialoglycoprotein receptor concentration significantly correlated with the clinical severity based on the criteria of the Liver Cancer Study Group of Japan (rs = -0.890, p = 0.0001). Good correlations between the asialoglycoprotein receptor concentration and conventional liver function tests were also observed. In acute liver disease the asialoglycoprotein receptor concentration correlated well with the normotest (r = 0.796, p = 0.0001), prothrombin time (r = 0.701, p = 0.0002) and total serum bilirubin (r = -0.642, p = 0.0007). We conclude that the parameter, asialoglycoprotein receptor concentration, obtained from the kinetic analysis of technetium 99m diethylenetriaminepentaacetic acid-galactosyl human serum albumin time-activity data, is a sensitive measure of functioning hepatocyte mass in acute and chronic liver disease.
Molecular Assessment of Histopathological Staging in Squamous-Cell Carcinoma of the Head and Neck
Authors: Joseph A. Brennan, Li Mao, Ralph H. Hruban, Jay O. Boyle, Yolanda J. Eby, Wayne M. Koch, Steven N. Goodman, David Sidransky
Journal: New England Journal of Medicine (1995)

Surgical oncologists rely heavily on the histopathological assessment of surgical margins to ensure total excision of the tumor in patients with head and neck cancer. However, current techniques may not detect small numbers of cancer cells at the margins of resection or in cervical lymph nodes.
Asymptomatic coronary artery disease: angiographic assessment of diabetics evaluated for renal transplantation.
Authors: L Weinrauch, J A D'Elia, R W Healy, R E Gleason, A R Christleib, O S Leland
Journal: Circulation (1978)

Twenty-one insulin-dependent diabetics with azotemic nephropathy were evaluated for renal transplantation by selective coronary angiography and cine left ventriculography. All had hypertension, retinopathy, neuropathy, and required salt restriction plus diuretics for volume overload. There was no clinical or electrocardiographic evidence of ischemic coronary artery disease in twenty. Ten patients (five males, five females, mean age 29.3 years; mean duration of diabetes 21.9 years; mean serum cholesterol 239 mg%) had significant coronary artery disease, seven demonstrating focal abnormalities in left ventricular wall motion. Two patients (one male, one female; mean age 36.5 years; mean duration of diabetes 28.5 years; mean serum cholesterol 250 mg%) had no significant coronary artery disease, but demonstrated diffusely abnormal left ventricular wall motion with diminished ejection fraction. Thirty-eight percent had significant coronary artery disease unpredictable by electrocardiographic or clinical data. The finding of no significant coronary artery disease in 52% of a group with severe renal-hypertensive complications of diabetes is surprising. Two patients may have a demonstrated cardiomyopathy.
Hospitals pay penalties of 1.2bn for "too many" admissions and "too early" discharges
Authors: N. Hawkes
Journal: BMJ (2014)

Schemes designed to penalise hospitals in England for exceeding agreed numbers of emergency admissions and for readmitting patients within four weeks of discharge have cost them more than £1.2bn over the past four years, an investigation by the Channel 4 programme Dispatches has found.

The penalty schemes aim to discourage hospitals from increasing numbers of emergency admissions beyond agreed levels and from discharging patients before they are well enough. For any unbudgeted emergency admissions, hospitals are paid at only 30% of the normal tariff, the so called “marginal tariff.” Funds are also withheld for readmissions within 30 days of an elective procedure and for some other readmissions, subject to local negotiation.

The marginal tariff rule was introduced because Payment by Results, the scheme that …
Sic Sjögren's Syndrome and Biopsy
Authors: PHILIP S. CIFARELLI
Journal: Annals of Internal Medicine (1972)

Letters, Comments, and Corrections1 April 1972Sic Sjögren's Syndrome and BiopsyPHILIP S. CIFARELLI, M.D.PHILIP S. CIFARELLI, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-76-4-671_2 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: This letter has been evoked by Dr. Norman Cumming's discussion of biopsy in the recently published NIH Conference, "Sjögren's Syndrome—Newer Aspects of Research, Diagnosis, and Therapy" [Ann Intern Med 75:937-950, 1971].It was of considerable diagnostic and research interest when it was discovered that the ubiquitous minor salivary glands of the lower lip became involved in the same lymphoid infiltrative process that is seen in the major salivary glands. Thereafter, rather than risk facial nerve injury or parotitis by parotid biopsy, it was shown that a simple lower lip biopsy, performed under local anesthesia, provided ample material...Reference1. CIFARELLIBENNETTZAINO PME: Sjogren's syndrome. A case report with an additional diagnostic aid. Arch Intern Med 117:429-431, 1966 CrossrefMedlineGoogle Scholar1. DRISCOLLLOONEY EP: Personal communication Google Scholar2. CALMANREIFMAN HS: Sjögren's syndrome. Report of a case. Oral Surg 21:158-162, 1966 CrossrefMedlineGoogle Scholar3. WARWICKBERNARDMESKIN WBL: The involvement of the labial mucous salivary glands in patients with cystic fibrosis. Pediatrics 34:621-628, 1964 MedlineGoogle Scholar4. CAHNEISENBUDBLAKE LLM: Biopsies of normal-appearing palates of patients with known sarcoidosis. Oral Surg 18:342-345, 1964 CrossrefMedlineGoogle Scholar5. CAHN L: The role of the lymphatic apparatus in oral disease. Br Dent J 122:387-390, 1967 MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 April 1972Volume 76, Issue 4Page: 671-672KeywordsAnesthesiaBiopsyFacial nerveParotitisSalivary glands Issue Published: 1 April 1972 PDF downloadLoading ...
THE RÔLE OF THE INTERNIST
Authors: RUSSEL V. LEE
Journal: Annals of Internal Medicine (1953)

Editorial1 October 1953THE RÔLE OF THE INTERNISTRUSSEL V. LEE, M.D.RUSSEL V. LEE, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-39-4-957 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo understand the rôle of the physician in any age is to understand the culture of that period. For he more than any other in all stages of our painful progress from savagery to civilization epitomized his times. When a culture developed and bloomed, the physicians rose with it, in fact often led and vitalized the movement, and the decay of great civilizations is more accurately measured by the degradation of the healing art than by any other yardstick. His rôle reflected in a most profound way the beliefs, the knowledge and the morals of the times and changed as... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 October 1953Volume 39, Issue 4Page: 957-961 Issue Published: 1 October 1953 PDF DownloadLoading ...
Rebound Nystagmus—A Cerebellar Sign?
Authors: James A. Sharpe
Journal: JAMA (1974)

The role of cerebellar disease in the production of nystagmus continues to be controversial. The cerebellum receives projections from visual and ocular muscle receptor afferents, and cerebellar efferent fibers project to vestibular and oculomotor nuclei and to the pontine reticular formation. These connections provide ample basis for disturbances of oculomotor control in cerebellar disease.<sup>1,2</sup>Some authors are reluctant to attribute spontaneous nystagmus to disturbances of the cerebellum itself. The probability of concurrent dysfunction of the brainstem produced either by pressure or by direct brainstem involvement has been emphasized.<sup>3,4</sup> The observations of Gordon Holmes<sub>5</sub>provide pertinent oculomotor guidelines. After acute cerebellar hemispheric injuries, Holmes described paralysis of ipsilateral gaze followed by gaze-paretic nystagmus on gaze toward the side of injury. The slow phase was directed to a "rest point" located 10° to 30° from midline on the unaffected side. On gaze to the other side of the rest