tbuckley/cabot-search huggingface dataset:
Accurate and rapid prenatal diagnosis of the most frequent East Mediterranean β‐thalassemia mutations
Authors: R.P. Naja, H. Kaspar, H. Shbaklo, N. Chakar, N.J. Makhoul, P.A. Zalloua
Journal: American Journal of Hematology (2004)

Beta-thalassemia is the most common genetic disorder in the Lebanese population. Of the 200 different mutations in the beta-globin gene that leads to thalassemia, the IVSI-110 (29.87%), IVSI-6 (20.74%), IVSI-1 (14.07%), IVSII-1 (9.13%), Cd29 (9.13%), and Cd30 (3.95%) mutations are the most frequent among Lebanese thalassemic patients. These mutations are also present at high frequencies in the East Mediterranean region. Due to this high prevalence of certain beta-thalassemia mutations, a rapid technique for the prenatal diagnosis of these mutations was implemented. The technique used is based on Real-Time PCR quantification and melting curve analysis of the amplified fragment using the LightCycler. The DNA samples used for amplification were obtained from CVS or amniotic fluid. Six mutations were easily and efficiently detected using only 3 sets of probes. With this method, mutant genotypes can be easily distinguished from normal alleles. In prenatal diagnosis, the accuracy and the speed of testing are paramount. The method of prenatal beta-thalassemia mutations detection described here is efficient and fast, with the entire procedure including DNA preparation taking less than half a workday. It is safe, does not involve radioactivity, and is accurate showing 100% concordance with conventional DNA sequencing methods.
A Comparison of Cabergoline and Bromocriptine in the Treatment of Hyperprolactinemic Amenorrhea
Authors: Jonathan Webster, Gabriella Piscitelli, Anna Polli, Carlo I. Ferrari, Ikram Ismail, Maurice F. Scanlon
Journal: New England Journal of Medicine (1994)

Cabergoline is a long-acting dopamine-agonist drug that suppresses prolactin secretion and restores gonadal function in women with hyperprolactinemic amenorrhea. We designed a study to compare its safety and efficacy with those of bromocriptine, which has been the standard therapy.A total of 459 women with hyperprolactinemic amenorrhea were treated with either cabergoline (0.5 to 1.0 mg twice weekly) or bromocriptine (2.5 to 5.0 mg twice daily), administered in a double-blind fashion for 8 weeks and subsequently in an open fashion for 16 weeks, during which adjustments in the dose were made according to the response. Of the 459 women, 279 had microprolactinomas, 3 had macroprolactinomas, 1 had a craniopharyngioma, 167 had idiopathic hyperprolactinemia, and the remainder had an empty sella. Clinical and biochemical status was assessed at 2-week intervals for 8 weeks and monthly thereafter for a total of 6 months, with an additional assessment at 14 weeks.Stable normoprolactinemia was achieved in 186 of the 223 women treated with cabergoline (83 percent) and 138 of the 236 women treated with bromocriptine (59 percent, P < 0.001). Seventy-two percent of the women treated with cabergoline and 52 percent of those treated with bromocriptine had ovulatory cycles or became pregnant during treatment (P < 0.001). Amenorrhea persisted in 7 percent of the cabergoline-treated women and 16 percent of the bromocriptine-treated women. Adverse effects were recorded in 68 percent of the women taking cabergoline and 78 percent of those taking bromocriptine (P = 0.03); 3 percent discontinued taking cabergoline, and 12 percent stopped taking bromocriptine (P < 0.001) because of drug intolerance. Gastrointestinal symptoms were significantly less frequent, less severe, and shorter-lived in the women treated with cabergoline.Cabergoline is more effective and better tolerated than bromocriptine in women with hyperprolactinemic amenorrhea.
A case of lipoid proteinosis with molecular diagnosis
Authors: T. Hamada, Raj Eady, J.A. McGrath
Journal: British Journal of Dermatology (2003)

Journal Article A case of lipoid proteinosis with molecular diagnosis Get access T. Hamada, T. Hamada Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas' Hospital, London, UK Search for other works by this author on: Oxford Academic Google Scholar Raj Eady, Raj Eady Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas' Hospital, London, UK Search for other works by this author on: Oxford Academic Google Scholar J.A. McGrath J.A. McGrath Department of Cell and Molecular Pathology, St John's Institute of Dermatology, St Thomas' Hospital, London, UK Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 148, Issue 6, 1 June 2003, Page 1293, https://doi.org/10.1046/j.1365-2133.2003.05524_9.x Published: 01 June 2003
TWO CASES OF HUMAN ANTHRAX AT CAMP JACKSON
Authors: OSCAR T. SCHULTZ
Journal: JAMA (1918)

Anthrax, a disease of relatively rare occurrence in civil life in this country, has assumed a certain degree of importance because of scattered cases that have appeared in Army camps. A few cases have occurred in camps in this country, and in the British army the cases have been more numerous. Usually it is possible to trace the infection to contaminated shaving brushes. The occurrence of two cases in Camp Jackson within a very short period of each other, the first reported from this camp, appears worthy of record, especially in view of the fact that the first case was so atypical clinically that the nature of the condition could not be suspected without the laboratory findings.  REPORTS OF CASES  Case 1.—Clinical Course.  —A private of the One Hundred and Fifty-Sixth Depot Brigade, white, aged 23, was admitted to the base hospital, July 17, 1918. The family and previous
Public robbery and the NHS
Authors: T. Dalrymple
Journal: BMJ (2010)

I have noticed that only a minority of people who make marks in books seem to get beyond the first chapter, at least if their markings are anything to go by. And quite often one can tell by similar means how far the original reader got in an old book whose pages were uncut at the time of purchase. For example, in my copy of William Cobbett’s Twelve Sermons of 1828, the purchaser made it only as far as the second sermon, “The Sin of Drunkenness in Kings, Priests and People.” The pages of the next sermon, “The Fall of Judas; or God’s Vengeance against Bribery,” and all the subsequent ones, …
A learning world for the Global Fund
Authors: D. M Berwick
Journal: BMJ (2002)

Global investment may finally be surging in the fight against AIDS, tuberculosis, and malaria. With new resources in hand, people, programmes, and nations engaged in that struggle have a choice to make. They can act separately, doing their best for the communities they serve with a share of the fund, or commit themselves to working and learning together across boundaries.

This is not a choice between decentralisation and centralisation. Decentralisation is the only way to fight these diseases effectively because their causes and treatment reach deeply into local communities. Without local action there can be no effective action.

Nor is it a choice between grass roots and top down strategies. Multidrug treatment, social support, and prevention can work well only when local people adapt programmes to local conditions, using their intelligence at the point of care and service. What works in the streets of Nairobi may not work in the villages of Zimbabwe. The details matter, and people too far from the frontline cannot get the details right.

But decentralised action need not be isolated action, and grass roots intelligence need not be a secret. In modern corporations, the best results come when a motivated, trained, and empowered workforce gets the right help from leaders so that people can …
68Ga DOTANOC PET/CT in Primary Neuroendocrine Tumor of the Breast
Authors: Anirban Mukherjee, Sellam Karunanithi, Suhas Singla, Chandrasekhar Bal, Rakesh Kumar
Journal: Clinical Nuclear Medicine (2014)

Primary neuroendocrine tumor (NET) of the breast is very rare. We present a case of a pathologically confirmed, primary breast NET in a 49-year-old woman with 68Ga DOTANOC PET/CT imaging findings. 68Ga DOTANOC PET/CT revealed somatostatin receptors expressing active lesions in primary right breast NET with metastases to multiple bilateral axillary and right cervical lymph nodes, bilateral lungs, and multiple skeletal sites.
Screening for type 2 diabetes doesn't affect mortality at 10 years
Authors: N. Hawkes
Journal: BMJ (2012)

Among the different species of Crocus, only C. sativus has been extensively studied for the composition and the biological properties of its styles, since these constitute the well-known spice saffron, which is widely used in the Mediterranean, Indian and Chinese diet. With high performance liquid chromatography (HPLC) and UV/vis spectroscopy, the presence of hydrophilic carotenoids in the styles of three other Crocus taxa, endemic in Greece, C. boryi ssp. tournefortii, C. boryi ssp. boryi and C. niveus, is reported for the first time. Incubation of MCF-7 and MDA-MB-231 breast cancer cells for 48 h with different concentrations of all four Crocus style extracts showed a dose-dependent inhibitory effect on cell proliferation measured by the MTT assay. The antiproliferative effect was not related to the presence of estrogen receptors. Studies on the effect of trans-crocin-4 (the main carotenoid constituent of C. sativus styles, digentibiosylester of crocetin), crocetin and safranal showed that the antiproliferative effect is attributed to the constituent crocins irrespective of the degree of glycosylation. These results show that the styles of the various Crocus taxa merit further investigation of their composition and mechanisms of action of their carotenoid constituents in order to establish if they could be used as chemopreventive or anticancer agents.
Translating the Diabetes Prevention Program Lifestyle Intervention for Weight Loss Into Primary Care
Authors: Jun Ma, Veronica Yank, Lan Xiao, Philip W. Lavori, Sandra R. Wilson, Lisa G. Rosas, Randall S. Stafford
Journal: JAMA Internal Medicine (2012)

The Diabetes Prevention Program (DPP) lifestyle intervention reduced the incidence of type 2 diabetes mellitus (DM) among high-risk adults by 58%, with weight loss as the dominant predictor. However, it has not been adequately translated into primary care.
Response of Hemiballismus to Haloperidol-Reply
Authors: Gordon J. Gilbert
Journal: JAMA (1976)

<h3>In Reply.—</h3> I certainly appreciate the significance of Dr Gilden's criticism and, in fact, tried to anticipate it in my article. Therein it is indicated that the hemiballismus began three weeks before I first saw the patient in the hospital and had been progressively<i>increasing</i>in intensity and extent, so that at the time I did examine him, the hemiballismic excursions were pronounced and extremely incapacitating. Against this background of a worsening and flagrant involuntary movement disorder, the almost complete suppression of hemiballismus within 48 hours of starting haloperidol therapy strongly favors a therapeutic response to the drug. As noted by Dr Gilden, hemiballismus will often gradually improve, but never, I think, with the dramatic suddenness seen in my patient's presumed response to haloperidol. Indeed, the dosage of haloperidol was tapered away completely in six months without recurrence of hemiballismus. I also agree that it would be useful, once hemiballismus
Effect of Exchange of Ham for Boiled Egg on Plasma Glucose and Insulin Responses to Breakfast in Normal Subjects
Authors: Christian Villaume, Bernard Beck, Raymond Rohr, Jean-Paul Pointel, Gérard Debry
Journal: Diabetes Care (1986)

Blood glucose (BG) and plasma insulin (IRI) were measured during two breakfasts different only by the nature of proteins--egg (E) or ham (H)--in eight normal subjects. Compared with H, E led to a flattened BG response at 30, 40, and 50 min and to a sustained BG from 150 to 240 min. Integrated BG response was not significantly different between E and H. After E, the IRI response decreased at 90 min and 120 min (P less than 0.05). Integrated IRI response with E was significantly smaller than with H (P less than 0.025). The reasons for the effect of E ingestion on BG are not obvious; pancreatic and/or intestinal mechanisms may be involved. It is suggested that greater consideration be given to the protein composition of the test meals when they are used in studies of glucose homeostasis.
The Evaluation of Hematuria in Adults
Authors: Julio Pascual
Journal: JAMA (1990)

<h3>To the Editor.—</h3> We have read the excellent review by Sutton,<sup>1</sup>and we would like to comment on an important aspect that has not yet been sufficiently evaluated. Sutton proposes an interesting and probably appropriate algorithm for the initial evaluation of hematuria, including history, physical examination and urinalysis, and a full battery of screening tests. Despite an extensive initial diagnostic workup, with which we agree, he considers that a test of 24-hour urinary calcium excretion should be performed only if it is mandated by clues from the history and physical examination, and then only in children. However, the determination of urinary excretion of calcium and uric acid should be performed routinely in every patient with microscopic or gross hematuria and no evidence of a clear origin, as has recently been indicated by Andrés et al.<sup>2</sup>In the study by Andrés and colleagues, among 121 patients prospectively evaluated,
The Love Canal Story Is Not Finished
Authors: Richard Clapp
Journal: Environmental Health Perspectives (2009)

In this issue, Gensburg et al. (2009) summarize the mortality experience of > 6,100 former residents of Love Canal, New York, over the period 1979-1996.Love Canal became a household word 30 years ago when outraged residents, led by Lois Gibbs and the Love Canal Homeowners Association, demanded attention to the apparent adverse effects of hazardous waste exposures on their children's health (Boston University School of Public Health 2004).Love Canal was evacuated between 1978 and 1980, and property owners were compensated in the first such widely publicized creation of environmental refugees in the United States.Several books and documentaries have described the process and the responses of the various parties involved, including the New York State Department of Health (Boston University School of Public Health 2004; Levine 1982).The Love Canal saga was called a "warning signal" for other communities that could be experiencing the same types of exposures and similar effects on children's health.As a result of this evacuation and other similar instances in contaminated communities around the United States, the Senate Environment and Public Works Committee
Does time spent in hospital in the final 15 years of life increase with age at death? A population based study
Authors: R L Himsworth, M J Goldacre
Journal: BMJ (1999)

of overweight, which confer only a slight increase in likelihood.The allele is relatively common.Given the difference in response to various modalities of intervention according to genetic propensity to increased body mass index for a variant in another gene, 5 our finding of almost complete penetrance of Ser363 genotypes to an overweight phenotype suggests that use of this marker could be important in clinical management.
Vincristine and Prednisone for the Induction of Remissions in Acute Childhood Leukaemia
Authors: R. M. Hardisty, T. J. McElwain, C. W. Darby
Journal: BMJ (1969)

A total of 65 children with acute lymphoblastic leukaemia and seven with other types of acute leukaemia received treatment with a combination of vincristine and prednisone. In all 122 courses of treatment were given. Of 22 patients with acute lymphoblastic leukaemia who received this as their first treatment, all achieved complete remission. The complete remission rates were 82% for patients with acute lymphoblastic leukaemia in their first relapse, 63% in the second relapse, and much lower in subsequent relapses and in the patients with other types of acute leukaemia. Alopecia and gastrointestinal and neuromuscular toxicity occurred respectively in 51%, 29%, and 21% of instances, only the last of these side-effects of vincristine being dose-related. Most of the complete remissions were obtained with a total dose of vincristine which carried only a low risk of neurotoxicity.
Myocardial Uptake of a Bone Tracer Associated with Hypercalcemia
Authors: HAROLD L. ATKINS, ZVI H. OSTER
Journal: Clinical Nuclear Medicine (1984)

A patient with end–stage renal disease and hypercalcemia was referred for a radionuclide bone imaging study. Deposition of Tc–99m hydroxymethylenediphosphonate was apparent in the lungs and myocardium as well as in the skeleton. Renal uptake was also noted, despite anuria. Computed tomography demonstrated nephrocalcinosis but no myocardial calcification. The cause of myocardial uptake of tracer is unknown. Amyloidosis is suggested as a possibility but is not validated in this case.
What Is Discomfort in Persons With Dementia Who Are Agitated?
Authors: Ladislav Volicer, Ann C. Hurley
Journal: JAMA Internal Medicine (2014)

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 Internal Medicine HomeNew OnlineCurrent IssueFor Authors Podcast 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 Internal Medicine journal
Analysis of cardiac assistance by latissimus dorsi cardiomyoplasty with a time varying elastance model
Authors: S. Sugiura, K. Harada, I. Yokoyama, S.-i. Momomura, Y. Naruse, H. Maku-uchi, T. Serizawa, H. Matsunaga, M. Iizuka, A. Furuse, T. Sugimoto
Journal: Cardiovascular Research (1993)

Objective: The clinical use of skeletal muscle cardiomyoplasty is limited because of its inadequate haemodynamic benefits. To facilitate experimental and clinical efforts to improve the efficacy of this technique, a mathematical model was proposed and its validity was tested in acute experiments. Methods: The model was based on the assumption that the skeletal muscle wrapped around the heart behaves as a time varying elastance that is connected in series with another time varying elastance representing the native heart. From this model two predictions were made: (1) Skeletal muscle augments the contractility of the heart by increasing the slope (Ees) of the end systolic pressure-volume relation; (2) time varying elastance of the skeletal muscle chamber (Es(t)) can be estimated from that of the assisted heart. These predictions were examined in experiments. In nine anaesthetised, open chest dogs, preconditioned latissimus dorsi muscle was transposed to wrap the heart. Left ventricular pressure (catheter tipped micromanometer), and volume (conductance catheter) were measured while reducing the preload by vena caval occlusion to evaluate Ees with 1:2 (stimu1ation:heart beat ratio) stimulation of the skeletal muscle. Results: With the stimulation of latissimus muscle, the end systolic pressure-volume relation was linear and Ees increased from 8.6(SEM 2.4) to 11.9(SEM 3.4) mm Hg·ml−1. Estimated Es(t) reflected the stimulation pattern and could account for the mechanism of the cardiac assistance. Conclusions: Skeletal muscle cardiomyoplasty improved the haemodynamic variable (Ees) as predicted by a mathematical model. Cardiovascular Research 1993;27:997-1003
Shared Medical Regulation in a Time of Increasing Calls for Accountability and Transparency
Authors: Kirstyn Shaw, Christine K. Cassel, Carol Black, Wendy Levinson
Journal: JAMA (2009)

In the United States, Canada, and the United Kingdom, the medical profession is accountable to the public for the delivery and quality of care provided to patients. Traditionally, this accountability has been achieved through the development and maintenance of professional standards established by the profession itself-self-regulation. Medical self-regulation is being re-examined by regulators, government, and the profession in response to a range of drivers including payers seeking ways to hold physicians accountable for cost-effective care; patients seeking more information about their physician's qualifications; and the emergence of a number of high-profile cases of unacceptable medical practice. This article outlines the current state of medical regulation in the United States, Canada, and the United Kingdom and highlights the increasing external pressure on the self-regulatory framework that is leading to a shift toward shared regulation between the profession and other stakeholders.
CHARACTERISTICS AND CLINICAL SIGNIFICANCE OF ANGIOGRAPHICALLY MILD LESIONS IN ACUTE CORONARY SYNDROMES: INSIGHTS FROM THE PROSPECT STUDY
Authors: Sorin J. Brener, Gary Mintz, Ecaterina Cristea, Giora Weisz, Akiko Maehara, John McPherson, Steven Marso, Naim Farhat, Hans E. Botker, Ovidiu Dressler, Ke Xu, Barry Templin, Zhen Zhang, Alexandra Lansky, Bernard de Bruyne, Patrick Serruys, Gregg Stone
Journal: Journal of the American College of Cardiology (2012)
A specific spectrum of p53 mutations in lung cancer from smokers: review of mutations compiled in the IARC p53 database.
Authors: T M Hernandez-Boussard, P Hainaut
Journal: Environmental Health Perspectives (1998)

Mutations in the p53 gene are common in lung cancer. Using data from the the International Agency for Research on Cancer p53 mutation database (R1), we have analyzed the distribution and nature of p53 mutations in 876 lung tumors described in the literature. These analyses confirm that G to T transitions are the predominant type of p53 mutation in lung cancer from smokers. The most frequently mutated codons include 157, 158, 179, 248, 249, and 273, and several of them (157, 248, and 273) have been shown to correspond to sites of in vitro DNA adduct formation by metabolites of polycyclic aromatic hydrocarbons (PAHs) such as benzo(a)pyrene. Furthermore, most of the base changes at codons 248, 249, and 273 in lung cancer differ from those commonly observed at these codons in other cancers reported in the database. Thus, lung cancer from smokers shows a distinct, unique p53 mutation spectrum that is not observed in lung cancer from nonsmokers. These results further strengthen the association between active smoking, exposure to PAHs, and lung cancer. They also indicate that a different pattern of mutations occurs in nonsmokers, and this observation may help to identify other agents causally involved in lung cancer in nonsmokers.