tbuckley/cabot-search huggingface dataset:
Company restores access to multiple sclerosis drug after pressure from neurologists
Authors: J. Laurance
Journal: BMJ (2013)

A drug company has bowed to pressure and restored some access to a drug that it had previously withdrawn.

The company, Genzyme, a subsidiary of the multinational pharmaceutical giant Sanofi, caused outrage among neurologists last year after it withdrew off-label use of its drug alemtuzumab for patients with multiple sclerosis.1

After protests from doctors, reports in the BMJ , Lancet , and national media, and an editorial in the BMJ ,2 the company has now agreed to restore a limited supply of the drug to enable patients with multiple sclerosis who had already started a course to complete their treatment.

In a letter to the NHS this week Isabelle Izzard, principal pharmacist at the Department of Health for England, said that Genzyme …
Mutations in <i>RSPH1</i> Cause Primary Ciliary Dyskinesia with a Unique Clinical and Ciliary Phenotype
Authors: Michael R. Knowles, Lawrence E. Ostrowski, Margaret W. Leigh, Patrick R. Sears, Stephanie D. Davis, Whitney E. Wolf, Milan J. Hazucha, Johnny L. Carson, Kenneth N. Olivier, Scott D. Sagel, Margaret Rosenfeld, Thomas W. Ferkol, Sharon D. Dell, Carlos E. Milla, Scott H. Randell, Weining Yin, Aruna Sannuti, Hilda M. Metjian, Peadar G. Noone, Peter J. Noone, Christina A. Olson, Michael V. Patrone, Hong Dang, Hye-Seung Lee, Toby W. Hurd, Heon Yung Gee, Edgar A. Otto, Jan Halbritter, Stefan Kohl, Martin Kircher, Jeffrey Krischer, Michael J. Bamshad, Deborah A. Nickerson, Friedhelm Hildebrandt, Jay Shendure, Maimoona A. Zariwala
Journal: American Journal of Respiratory and Critical Care Medicine (2014)

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder of motile cilia, but the genetic cause is not defined for all patients with PCD.To identify disease-causing mutations in novel genes, we performed exome sequencing, follow-up characterization, mutation scanning, and genotype-phenotype studies in patients with PCD.Whole-exome sequencing was performed using NimbleGen capture and Illumina HiSeq sequencing. Sanger-based sequencing was used for mutation scanning, validation, and segregation analysis.We performed exome sequencing on an affected sib-pair with normal ultrastructure in more than 85% of cilia. A homozygous splice-site mutation was detected in RSPH1 in both siblings; parents were carriers. Screening RSPH1 in 413 unrelated probands, including 325 with PCD and 88 with idiopathic bronchiectasis, revealed biallelic loss-of-function mutations in nine additional probands. Five affected siblings of probands in RSPH1 families harbored the familial mutations. The 16 individuals with RSPH1 mutations had some features of PCD; however, nasal nitric oxide levels were higher than in patients with PCD with other gene mutations (98.3 vs. 20.7 nl/min; P < 0.0003). Additionally, individuals with RSPH1 mutations had a lower prevalence (8 of 16) of neonatal respiratory distress, and later onset of daily wet cough than typical for PCD, and better lung function (FEV1), compared with 75 age- and sex-matched PCD cases (73.0 vs. 61.8, FEV1 % predicted; P = 0.043). Cilia from individuals with RSPH1 mutations had normal beat frequency (6.1 ± Hz at 25°C), but an abnormal, circular beat pattern.The milder clinical disease and higher nasal nitric oxide in individuals with biallelic mutations in RSPH1 provides evidence of a unique genotype-phenotype relationship in PCD, and suggests that mutations in RSPH1 may be associated with residual ciliary function.
Neuritis and Arthritis Following Rubella Immunization
Authors: James Chin
Journal: JAMA (1971)

<h3>To the Editor.—</h3> In a letter toThe Journal(<b>213:</b>2272, 1970) Speier commented on seeing apparent neuritis, not arthritis, in children immunized with rubella vaccine. As he points out, arthritis is now widely recognized as a complication, but what about neuritis? A review of the literature reveals that peripheral neuritis has been reported with and following<i>natural</i>rubella, especially in Great Britain, as far back as 1940.<sup>1,2</sup>We recently had the opportunity of documenting the extent of post-rubella-vaccine reactions after a large immunization campaign<sup>3</sup>and we too were struck by the extent (7.2%) of arthritis or the sensory effects of a peripheral neuritis (paresthesia) or both. Of 23 children examined because of reported reactions, 18 had<i>no</i>objective findings whatsoever. Paresthesia was a prominent complaint however, and frequently the chief complaint. Paresthesia and its peculiar diurnal pattern were similarly noted by Cooper et al<sup>4</sup>in one
The effect of hepatectomy on the synthesis of 25-hydroxyvitamin D3.
Authors: E B Olson, J C Knutson, M H Bhattacharyya, H F DeLuca
Journal: Journal of Clinical Investigation (1976)

The metabolism of [3H]vitamin D3 in hepatectomized vitamin D-deficient rats has been studied. Hepatectomy drastically disrupts vitamin D3 metabolism as revealed by prolonged high levels of [3H] vitamin D3 in the plasma compartment even 12 h after dose in contrast to sham-operated controls. Some conversion of [3H] vitamin D3 to [3H]25-hydroxyvitamin D3 was detected in hepatectomized rats, but the amount was small in spite of the high circulating levels of [3H]vitamin D3. Since the liver initially takes up much of an administered dose in normal animals and the conversion of [3H]vitamin D3 to [3H]25-hydroxyvitamin D3 is small in hepatectomized rats in spite of high circulating [3H]-vitamin D3, it is concluded that the liver plays a major role in the metabolism of vitamin D3 to 25-hydroxy-vitamin D3.
Hepatic Glutamine Synthetase Deficiency in Fatal Hyperammonemia after Lung Transplantation
Authors: Mendel Tuchman, Gary R. Lichtenstein, B.S. Rajagopal, Mark T. McCann, Emma E. Furth, Joseph Bavaria, Paige B. Kaplan, James B. Gibson, Gerard T. Berry
Journal: Annals of Internal Medicine (1997)

The cause of severe acquired hyperammonemia, an uncommon but often fatal complication of organ transplantation and chemotherapy for cancer, is obscure.To test the hypothesis that liver glutamine synthetase deficiency may explain hyperammonemia in patients who have had organ transplantation or are receiving chemotherapy.Case report.Two patients who had fatal hyperammonemia after orthotopic lung transplantation.Liver tissue was analyzed to determine the activities of two urea cycle enzymes and glutamine synthetase. Western blot assays for hepatic glutamine synthetase were performed to determine whether glutamine synthetase deficiency resulted from reduced enzyme levels.Activities of carbamoyl phosphate synthetase I and ornithine carbamoyltransferase in the liver were normal. The activity of hepatic glutamine synthetase was markedly reduced (in patient 1, 12% of the mean value in controls; in patient 2, 28% of the mean value in controls), and a concomitant reduction in the amount of glutamine synthetase protein was observed.Hyperammonemia after transplantation was associated with hepatic glutamine synthetase deficiency in two patients, but the causal relation between these two conditions must be further studied.
Practical Observations on the Cerebral Diseases of Children, Chiefly Bearing on the Subject of Diagnosis in Hydrocephalic Affections
Authors: T. Salter
Journal: BMJ (1847)

HIaving often experienced, especially at an early period of my practice, considerable difficulty in the diagnosis of the cerebral diseases of children, and in discriminating between them and other affections which simulate them in their cerebral symptoms, I have, with a view of fixing the attention more strongly and pointedly on tho3e signs,which, from experience, I have been led to think are most to be depended upon, put together a few observations in the present com.mnunication on the subject, accompanied witb several abridged illustrative cases; not, however, with the idea that anything I may have to offer sill prove very movel or particularly instructive, but with a hope that by calling the attention afresh to a class of diseases which, in a majority of cases, have hitherto had a fatal termination, some good may result.Whatever induces us to re-consider our former views or opinions, can scarcely fail to be productive of advantage.M. Rifliet's essay on the " Simple Acute Inflamma- tion of the Membranes of the Brain in Infants," is a valuable contribution to medical science; it will con.si4erably aid the practitioner in his discrimination of this difficult class of diseases.I was led by the porual of the translation of this work, which appeared in the pages of the Jounmal of the Society, to tum to my note book, and to the selection of the cases before' referred to.Th. knowledge and treatment of cerebral disease is, l belitve, now confessedly considered the most obscure department of practical medicine.We have it not in our power to employ those physical miodes of ia.vestigation which we, with so much success, avail ourseles of in the diagnosi of thoftcic and abdominal disrder We are yet left to gatherour opiuions from grnW syptoms and functional sympathetic dis.tsU _ueu, such as were formerly our only gnide in ]o, 22, Noember 3, 1847, searching into the ailments of the organs contained in the larger cavities of the body.The difficulties thus imposed upon us I have not only personally and painfully experienced, but have had some opportunity of witnessing the embarrassments, and I may add, errors of diagnosis in others, and in some who enjoyed
Environmental Factors in Childhood Lead Poisoning
Authors: Robert C. Griggs, Irving Sunshine, Vaun A. Newill, Burritt W. Newton, Stuart Buchanan, Cleo A. Rasch
Journal: JAMA (1964)

In a series of 906 children contacted by door-to-door survey, information was obtained on pica and environmental factors related to lead poisoning, and urine samples were analyzed. Urine was abnormal for lead and coproporphyrin in 216 of 801 children living in old housing and in 3 of 105 children of similar socioeconomic background living in a new housing project. Thirty-eight children from old housing, but none from new housing, had significant evidence of lead intoxication. A history of pica for paint, dirt, or plaster was obtained more frequently in the old housing but was not an adequate screening test for lead intoxication. Flaking paint on the inside of the home was the environmental factor most frequently associated with an abnormal urine.
Appeal Court will decide whether a patient has right to be consulted before a "do not attempt resuscitation" note is put in notes
Authors: C. Dyer
Journal: BMJ (2014)

Three judges of the Court of Appeal for England and Wales are to decide whether a patient has a right in law to be consulted before a “do not attempt cardiopulmonary resuscitation” direction is placed in the patient’s medical notes.

The judges, headed by the master of the rolls, John Dyson, ruled that a judicial review hearing into the issue should go ahead, overturning a ruling by a High Court judge throwing it out as academic.1

The decision means that the court will hear arguments by David Tracey, …
Public is urged to help exclude private companies from NHS
Authors: O. Mashta
Journal: BMJ (2010)

The BMA is urging the public to support its campaign against private companies providing NHS care in England, which it says is adversely affecting many parts of the health service.

The BMA’s “Look After our NHS” campaign (www.lookafterournhs.org.uk), which was launched to emphasise the problem among doctors in June 2009, is now being extended to highlight the issue to the general public. Successive governmental policies have allowed commercially run firms to compete against existing NHS trusts and GP practices to provide NHS care, to the detriment of the health service, says the BMA.

The BMA’s campaign website has been revamped so that members of the public can add their support.

As part of the protest the BMA will be sending “Look …
SIRT4 Has Tumor-Suppressive Activity and Regulates the Cellular Metabolic Response to DNA Damage by Inhibiting Mitochondrial Glutamine Metabolism
Authors: Seung Min Jeong, Cuiying Xiao, Lydia W.S. Finley, Tyler Lahusen, Amanda L. Souza, Kerry Pierce, Ying-Hua Li, Xiaoxu Wang, Gaëlle Laurent, Natalie J. German, Xiaoling Xu, Cuiling Li, Rui-Hong Wang, Jaewon Lee, Alfredo Csibi, Richard Cerione, John Blenis, Clary B. Clish, Alec Kimmelman, Chu-Xia Deng, Marcia C. Haigis
Journal: Cancer Cell (2013)
Health Insurance for the Nation
Authors: Stanley W. Olson
Journal: New England Journal of Medicine (1971)

Abstract Public interest in better ways to obtain and finance health care is growing rapidly, and the possibility of enacting legislation designed to accomplish these purposes is increasing. From the current positions of some of the major participants in the forthcoming debate — insurance carriers, physicians, hospitals, consumers and the Administration — it is apparent that all these groups have conceded to the federal government a broader role in the financing of health care, especially in the purchase of health-care insurance for the poor. Divergence of opinion exists about whether major changes in the financing of health care can also accelerate changes in the way in which health-care services are organized and delivered. Highly structured proposals for accomplishing this aim give the appearance of panaceas that are not likely to succeed. Greater understanding is needed of how improvements in the provision of health services can, in fact, be implemented more effectively. Financing is an important force for change, but is by no means wholly sufficient for that purpose.
To &lt;emph type="ital"&gt;JAMA&lt;/emph&gt; Peer Reviewers and Authors—Thank You
Authors: Phil B. Fontanarosa
Journal: JAMA (2008)

IN THIS ISSUE OF JAMA, WE ARE PUBLISHING, WITH OUR SINcere thanks, the names of all peer reviewers who completed manuscript reviews for JAMA in 2009. These peer reviewer consultants represent academic and clinical expertise in every medical specialty and subspecialty, have scientific expertise covering virtually every area of medical research, and represent 40 countries. We extend our appreciation to each peer reviewer for providing objective, insightful, and rigorous critiques of submitted manuscripts, and for making indispensable contributions in maintaining and enhancing the clinical relevance and scientific quality of articles published in JAMA. We also express our appreciation to all authors who submitted manuscripts for consideration for publication in JAMA. These manuscripts address nearly every area of medicine and include major practice-changing clinical trials, cuttingedge basic science and translational investigations, and highquality observational studies; clinically applicable, rigorous, systematic review articles; and insightful, provocative, and scholarly commentaries. In 2009, authors of manuscripts submitted to JAMA represented 70 countries, and international authors accounted for 40% of submitted manuscripts. We extend our thanks to these physician-scientists, medical researchers, clinical investigators, and all other authors for submitting manuscripts to JAMA, and for providing us with the opportunity to consider their work for publication. The rigorous nature of the peer review process and the quality and importance of manuscripts submitted to JAMA are demonstrated in several key measures (TABLE). Even though the number of manuscripts submitted has increased, the turnaround times for editorial decision making, peer review, and time from manuscript submission to publication (a median of 103 days) have all remained efficient. In 2008, JAMA’s impact factor reached 31.7, reflecting the importance with which the scientific and biomedical research communities regard articles that appear in JAMA. We sincerely appreciate the contributions of all JAMA peer reviewers and authors. We look forward to the continued efforts and support of our peer reviewer consultants in helping ensure the scientific quality and integrity of articles published in JAMA, and we invite and encourage authors to consider JAMA as their journal of first choice for publication of their important papers.
New Job for an Old Drug?
Authors: Arnold S. Relman
Journal: New England Journal of Medicine (1978)

Sulfinpyrazone (Anturane), an analogue of phenylbutazone with a potent uricosuric action, has been used in the treatment of gout since 1959. More recently, this agent has been found to possess antithrombotic properties, possibly explained by its ability to inhibit platelet activation and the synthesis of prostaglandins. Given the intense current interest in the use of antiplatelet agents for the prevention of arterial thromboembolic phenomena, it should surprise no one that sulfinpyrazone was soon viewed as potentially useful in the management of coronary-artery disease. To test this hypothesis, a major prospective trial of the drug in patients recently recovered from a . . .
Antibodies to intermediate filaments in polymyalgia rheumatica and giant cell arteritis: a sequential study.
Authors: B Dasgupta, O Duke, V Kyle, D G Macfarlane, B L Hazleman, G S Panayi
Journal: Annals of the Rheumatic Diseases (1987)

Serum specimens from 35 patients with polymyalgia rheumatica and giant cell arteritis (PMR/GCA) were obtained sequentially at variable time intervals up to a year from onset of disease. These were tested for antibodies to intermediate filaments by indirect immunofluorescence using HEp2 cells as substrate. Twenty four of 35 (68%) patients9 sera at onset of disease were positive at an anti-intermediate filament antibody (AIFA) titre of greater than 1/40 compared with three outs of 19 (15%) control sera. AIFA were predominantly of IgM class, and there was no significant change in AIFA titres on follow up despite clinical remission of disease.
Anisoylated Plasminogen Streptokinase Activator Complex versus Streptokinase in Acute Myocardial Infarction
Authors: P. Monnier, U. Sigwart, A. Vincent, F. Bachmann, J. J. Goy, M.-D. Schaller, U. Kaufmann, M. Badan, M. Grbic, C. Perret, L. Kappenberger
Journal: Drugs (1987)
Pulmonary Kaposi's sarcoma in patients with acquired immune deficiency syndrome: a clinicopathological study.
Authors: P J Fouret, J L Touboul, C M Mayaud, G M Akoun, J Roland
Journal: Thorax (1987)

Pulmonary Kaposi's sarcoma may contribute to respiratory dysfunction in patients with acquired immune deficiency syndrome (AIDS) and features of pneumonitis. Opportunistic infections are readily recognised in endoscopic material, but pulmonary Kaposi's sarcoma is easily missed, so that patients are deprived of specific treatment. The clinical and pathological findings from nine cases of pulmonary Kaposi's sarcoma have been reviewed; these were found among 84 patients with AIDS and pneumonitis undergoing fibreoptic bronchoscopy and bronchoalveolar lavage. Diagnosis was established before death in eight patients (in five by bronchial biopsy and in three by open lung biopsy). Examination of lavage fluid showed alveolar haemorrhage in six patients. It is concluded that: (1) fibreoptic bronchoscopy may be useful in the diagnosis of endobronchial lesions of Kaposi's sarcoma; (2) alveolar haemorrhage in patients with AIDS is suggestive of pulmonary Kaposi's sarcoma. Factors that may cause difficulties in diagnosis include the focal nature of some lesions and the pleural or parenchymatous location of others. In addition, in the lung as in the skin, the early stages of Kaposi's sarcoma resemble granulation tissue. Such lesions are far more difficult to recognise than is the late nodular stage.
THE UTILIZATION OF IRON AND THE RAPIDITY OF HEMOGLOBIN FORMATION IN ANEMIA DUE TO BLOOD LOSS
Authors: P. F. Hahn, J. F. Ross, W. F. Bale, G. H. Whipple
Journal: The Journal of Experimental Medicine (1940)

The formation of hemoglobin in the anemic dog takes place at a very rapid rate. Radio-iron is detectable in the circulating red cells 4 hours after feeding. The absorbed labelled iron is entirely converted into hemoglobin within 4 to 7 days under standard anemic conditions. When red cell production has been accelerated by iron feeding or diet factors or when the dose of iron is very small, the dog can turn out as hemoglobin almost all the absorbed radio-iron in 2 to 3 days. In general, absorption of radio-iron as shown by utilization to form hemoglobin in anemic dogs is more efficient in small doses in single feeding experiments. As the iron intake is increased the percentage absorption rapidly falls.
Cults and New Religious Movements: A Report of the American Psychiatric Association
Authors: Edwin R. Wallace
Journal: JAMA (1991)

Cults and New Religious Movements culminates a three-year project by the Committee on Psychiatry and Religion of the American Psychiatric Association. Its editor, Marc Galanter, is a household name to psychiatrists interested in religious, cultic, and secular charismatic healing groups. The contributors are not limited to Committee members, and several are laypersons— psychologists, social scientists, and attorneys. Perspectives, interpretations, and attitudes are diverse. As Galanter (p xiv) says, this allows readers to weigh, sift, and form their own conclusions.  The book treats a number of topics in 16 chapters. The social context is discussed by Galanter (Cults and New Religious Movements), E. M. Pattison and R. C. Ness (New Religious Movements in Historical Perspective), and H. Work (Contemporary Youth: Their Psychological Needs and Beliefs). The impact of membership is covered by S. V. Levine (Life in the Cults), D. A. Halperin (Families of Cult Members: Consultation and Treatment), and B.
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report
Authors: Kai-Uwe Eckardt, Seth L. Alper, Corinne Antignac, Anthony J. Bleyer, Dominique Chauveau, Karin Dahan, Constantinos Deltas, Andrew Hosking, Stanislav Kmoch, Luca Rampoldi, Michael Wiesener, Matthias T. Wolf, Olivier Devuyst
Journal: Kidney International (2015)