tbuckley/cabot-search huggingface dataset:
Highly prevalent<i><scp>SERPINB7</scp></i>founder mutation causes pseudodominant inheritance pattern in Nagashima‐type palmoplantar keratosis
Authors: O. Mizuno, T. Nomura, S. Suzuki, M. Takeda, Y. Ohguchi, Y. Fujita, W. Nishie, K. Sugiura, M. Akiyama, H. Shimizu
Journal: British Journal of Dermatology (2014)

Background Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK). Very recently, putative loss-of-function mutations in SERPINB7, which encodes a member of the serine protease inhibitor superfamily and is abundantly expressed in the epidermis, have been identified as a cause of NPPK. Objectives To confirm further the role of SERPINB7 mutations in the pathogenesis of NPPK. Methods We analysed 10 Japanese families with NPPK using Sanger and/or whole-exome sequencing. Results We identified one novel and three recurrent null mutations in SERPINB7. In all the families, the NPPK trait was inherited in an autosomal recessive manner; in one of the families, there was pseudodominant inheritance, which had not been described in NPPK. Conclusions These data clearly provide further evidence that NPPK is caused by loss-of-function mutations in SERPINB7.
Outcomes incentives: can they catch on in the US?
Authors: M. Simonette
Journal: BMJ (2013)

Matt Simonette looks at the tightening links between income and clinical outcomes

As large scale implementation of the Affordable Care Act draws closer, physicians, payers, policy analysts, and other stakeholders expect the US healthcare system to shift towards payment models driven by outcomes rather than the volume of services rendered by providers. These newer models, say experts, better focus physicians on the patient’s wellbeing in the long run and ultimately can keep costs lower.

Several programs are in place already, among them the Bundled Payments Care Initiative implemented by the Centers for Medicare and Medicaid Services in January.1 2

But outcomes based payments currently make up a tiny fraction of payments made to doctors, according to a study released in June.3 Stakeholders are still struggling with determining exactly when quality based measures are appropriate and transforming a payment infrastructure wherein the fee for services model is so deeply entrenched.

Nevertheless, many physicians and policy experts suggest that implementing quality based measures will greatly benefit patients in the long run. Numerous payment methodologies can fall under the outcomes based rubric, among them bundled payments paying for specific episodes of care and patient capitation models paying for treatments associated with an individual.

“These sorts of models suggest that we should view the patient as the unit of analysis, not top line revenue,” said Doug Emery, program implementation leader for the western region, at Health Care Incentives Institute, Newtown, Connecticut, which advocates for payment reform.

A study by the Medical Group Management Association-American College of Medical Practice Executives (MGMA-ACMPE), Englewood, Colorado, said that on average about 3% of a general practitioner’s income, and 2% of a specialist’s income, was staked on outcomes based metrics.3

According to the report, general practitioners reported $216 462 (£143 650; €165 580) in median compensation while specialists reported …
The Advertising Question.
Authors: None Medicus
Journal: JAMA (1894)

Pittsburg, March 10, 1894. <h3>To the Editor:</h3> —I observe, sir, that but one side of the advertising case has been presented by the Hebrew children of Philadelphia and Pittsburg. I always bear in mind, sir, the old advice to beware of the Greeks bearing gifts, "<i>Timeo Danaos et dona ferentis</i>." The spasms of virtue which are bringing Solomon of Philadelphia, and Isaac of Pittsburg, to the fore, may be in the nature of friendliness to some of the rival works. This is perhaps creditable, but it ought to be considered with their remarks. It is somewhat singular that you do not see these people attacking "Europhen," "Trional," "Losophan," "Piperazin," "Antipyrin," "Antifebrin," or "Sulfonal." The difference between these and American secretly prepared pharmacy products is that one is from abroad and probably of Hebrew manufacture, while the others are indigenous. I must say, Mr. Editor,
New Triage Guideline
Authors: Bridget M. Kuehn
Journal: JAMA (2009)

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
Diagnosis of Musculoskeletal Infection Using Combined ln-111 Labeled Leukocyte and Tc-99m SC Marrow Imaging
Authors: CHRISTOPHER J. PALESTRO, PETER ROUMANAS, ALFRED J. SWYER, CHUN K. KIM, STANLEY J. GOLDSMITH
Journal: Clinical Nuclear Medicine (1992)

Seventy-three patients with various underlying disorders that could potentially alter distribution of bone marrow underwent in-111 labeled autologous leukocyte and Tc-99m SC marrow imaging to exclude musculoskeletal Infection. There were 22 cases of infection among the 73 patients studied. When interpreted in isolation, labeled leukocyte images were considered positive for infection when uptake of labeled cells in the region of interest exceeded uptake in the corresponding contralateral side. The sensitivity, specificity, and accuracy of the study using this criterion were 86%, 12%, and 34%, respectively. When interpreted in conjunction with sulfur colloid marrow images, studies were considered positive for infection when uptake in the region of interest on leukocyte and marrow images was spatially incongruent The sensitivity, specificity, and accuracy of this dual tracer modality were 100%, 94%, and 96%, respectively. Three patients with infection and abnormal leukocyte/marrow images underwent repeat imaging after appropriate therapy. Images were interpreted as normal in two of them; both were infection free at subsequent surgery. Images of the third patient were interpreted as consistent with persistent infection, and operative cultures grew out Staphylococcus aureus. In summary, combined leukocyte/marrow imaging is a highly accurate method for diagnosing musculoskeletal infection and overcomes certain inherent limitations of labeled leukocyte imaging alone.
The novel calcium antagonist Ro 40-5967 limits myocardial infarct size in the dog
Authors: R. S Vander Heide, L. M Schwartz, K. A Reimer
Journal: Cardiovascular Research (1994)

Journal Article The novel calcium antagonist Ro 40-5967 limits myocardial infarct size in the dog Get access Richard S Vander Heide, Richard S Vander Heide Department of Pathology, Box 3712, Duke University Medical Center, Durham, North Carolina 27710, USA: R S Vander Heide, L M Schwartz. K A Reimer. Correspondence to Dr Reimer. Search for other works by this author on: Oxford Academic PubMed Google Scholar Lisa M Schwartz, Lisa M Schwartz Department of Pathology, Box 3712, Duke University Medical Center, Durham, North Carolina 27710, USA: R S Vander Heide, L M Schwartz. K A Reimer. Correspondence to Dr Reimer. Search for other works by this author on: Oxford Academic PubMed Google Scholar Keith A Reimer Keith A Reimer Department of Pathology, Box 3712, Duke University Medical Center, Durham, North Carolina 27710, USA: R S Vander Heide, L M Schwartz. K A Reimer. Correspondence to Dr Reimer. Search for other works by this author on: Oxford Academic PubMed Google Scholar Cardiovascular Research, Volume 28, Issue 10, October 1994, Pages 1526–1532, https://doi.org/10.1093/cvr/28.10.1526 Published: 01 October 1994 Article history Received: 19 April 1994 Accepted: 24 June 1994 Published: 01 October 1994
Abstract P5-06-01: The PI3K inhibitor GDC-0941 combines with trastuzumab for superior anti-tumor efficacy in HER2+ breast cancer models
Authors: P De, Y Sun, J Carlson, L Friedman, N Dey, B Leyland-Jones
Journal: Cancer Research (2013)

Abstract Background: PI3K-AKT-mTOR pathway signaling is important for the oncogenic function of HER2. Activating alterations of this pathway are frequently observed in HER2-enriched breast cancer and generally herald a poor response and resistance to trastuzumab (T). Purpose: Targeting the PI3K-AKT-mTOR pathway is an attractive strategy in HER2+ breast cancer that is refractory to trastuzumab. The hypothesis is that the suppression of this pathway by pan-PI3K inhibitor, GDC-0941 may lead to overcome trastuzumab-resistance. Experimental Design: The antiproliferative and HER2-mediated cellular signaling (pAKT, pP70S6K, pS6RP, p4EBP1 and p-ERK) effects of GDC-0941 alone and in combination with T were evaluated in HER2 amplified T-sensitive (BT474), T-resistant (BT474HR), and HER2 amplified/PIK3CA mutated (HCC1954, UACC893) BT cell lines by MTT assay and Western blots. Clonogenic growth was tested by 3D ON-TOP assay and apoptosis markers were also tested. Athymic mice bearing BT474 and BT474HR xenograft tumors were treated with GDC-0941 and T (alone and in combination). Results: (1) GDC-0941 exhibited in vitro cell killing activity in MTT assay with IC50's ranging from 0.35 μM to 1 μm and potency was augmented by the addition of T, (2) inhibition of phosphorylation of AKT(S473, T308), P70S6K, S6RP, and 4EBP1(T37/46, T70) was observed following GDC-0941 treatment, and the combination of GDC-0941 and T more effectively blocked the PI3K-AKT-mTOR pathway, (3) GDC-0941 treatment increased apoptosis markers (CL-CASPASE3 and annexinV positivity), (4) GDC-0941 dose-dependently blocked 3D-ON-TOP clonogenic growth of HER2+ cells. This effect was potentiated in the presence of T and (5) in vivo, the combination of GDC-0941 and T significantly reduced established tumor growth in both sensitive (82%) and resistant (79%) models with concomitant decrease of different PD markers. Conclusions: Our data suggest that 1) therapeutic targeting of the PI3K-AKT-mTOR signaling should be effective in abrogating resistance to T therapy in HER2+ BT, and 2) targeting both the HER2 and the PI3K signaling pathways is an attractive strategy to enhance the clinical efficacy of T therapy, as well as to prevent or delay the development of resistance. Citation Information: Cancer Res 2013;73(24 Suppl): Abstract nr P5-06-01.
P178Responses to endothelium-dependent vasodilators and insulin in patient pericardial resistance arteries
Authors: TM Leurgans, LM Rasmussen, A Irmukhamedov, JGR De Mey
Journal: Cardiovascular Research (2014)

Endothelial dysfunction is proposed to be involved in the development of cardiovascular diseases (CVDs) but marked relaxing responses to shear stress can be observed in coronary resistance arteries (rAs) of CVD patients. We tested whether responses to endothelium-dependent agonists are also maintained in more peripheral rA of CVD patients. A biopsy of the parietal pericardium was obtained during coronary artery bypass and/or cardiac valve related surgery. From this tissue, we isolated rA segments (O at 100 mmHg: 198 ± 8 μm; n = 134, N = 37) that were investigated in wire myographs. During contraction induced by an EC50 concentration (2 nM) of endothelin-1 (ET-1, Emax: 1.5 ± 0.1 N/m), acetylcholine (EC50 and Emax: 148 ± 28 nM and 70 ± 3 %), bradykinin (EC50 and Emax: 1.8 ± 0.1 nM and 110 ± 1 %) and insulin (EC50 and Emax: 10 pM and 105 ± 13 %) induced potent and marked relaxing responses, in spite of the CVD profile of the patients. The relaxing responses to the endothelium-dependent agonists were not significantly reduced by the combined presence of 100 μM L-NAME (NOS-inhibitor), 10 μM indomethacin (COX-inhibitor), 1 μM UCL 1684 and 1 μM TRAM-34 (inhibitors of small- and intermediate conductance calcium-activated potassium channels) plus 10 μM ODQ (inhibitor of soluble guanylate cyclase). Our observations suggest compensatory upregulation of alternative vasodilator pathways in peripheral resistance arteries of CVD patients. The mechanisms of these pathways remain to be established.
BBS-Induced Ciliary Defect Enhances Adipogenesis, Causing Paradoxical Higher-Insulin Sensitivity, Glucose Usage, and Decreased Inflammatory Response
Authors: Vincent Marion, Anaïs Mockel, Charlie De Melo, Cathy Obringer, Aurélie Claussmann, Alban Simon, Nadia Messaddeq, Myriam Durand, Luc Dupuis, Jean-Philippe Loeffler, Peter King, Catherine Mutter-Schmidt, Nikolai Petrovsky, Corinne Stoetzel, Hélène Dollfus
Journal: Cell Metabolism (2012)
QUARTZ LIGHT THERAPY IN UROGENITAL TUBERCULOSIS
Authors: STANLEY L. WANG
Journal: JAMA (1935)

Quartz light therapy has been included in the treatment of urogenital tuberculosis for the past eight years. It is not used alone but is a part of the general plan of treatment. The general plan is to remove the active lesions by surgery, so far as this may be done advantageously, and then to follow the surgery by a long course of after care. The after care, as is also the treatment of inoperable patients, is based on the traditional method of treating tuberculosis; namely, rest, fresh air and proper diet. To these are added other measures and procedures that have been found useful and that seem indicated in the various kinds of patients. Among the useful measures is quartz light therapy. The air cooled mercury vapor quartz lamps of both the older and the newer types have been employed for the local irradiation of sinuses and for general irradiations
GMC launches new guidance for patients on what to expect from their doctor
Authors: H. Jaques
Journal: BMJ (2013)

The UK General Medical Council has published guidance for patients on what to expect from their interactions with doctors and the standards of professionalism that doctors should display.

The guidance emphasises the level of respect and dignity that patients should expect of their doctor and how doctors should work in partnership with patients (www.gmc-uk.org/guidance/patients.asp). It also aims to “demystify” the healthcare process for patients by providing advice on what should happen in a …
Child Abuse: Medical Diagnosis and Management
Authors: Hugh A. Carithers
Journal: JAMA (1994)

This handsome book of moderate size brings together material on a subject that is vital in the culture of today. One can hardly escape the subject of child abuse, which is presented by all types of media, sometimes luridly and sensationally. The 26 contributors have approached child abuse in general and by location of trauma, eg, head, trunk, skeleton, and even the body at the autopsy table. In some states, physicians and others are required by law to report suspected child abuse. Therefore, an especially valuable chapter is entitled "Conditions Mistaken for Child Abuse." One rarely thinks of poisoning as a form of abuse, but, surprisingly, a chapter on poisoning as child abuse has 143 references. References in all chapters are impressive, as illustrated by 256 for the chapter "Sudden Infant Death and Child Abuse." Many of the chapters have superior illustrations. Those comparing female genital trauma with congenital or
Strengthening leadership in the NHS
Authors: C. Ham
Journal: BMJ (2014)

The Rose and Dalton reviews are welcome but there are no easy answers

The appointment of Stuart Rose, former boss of Marks and Spencer, to advise the government on leadership in the NHS is the latest in a long line of attempts to make use of private sector expertise in the NHS. Rose’s brief is to explore how the 14 NHS trusts placed in special measures can be helped to tackle concerns about their performance.1 Like Roy Griffiths, Adair Turner, and Gerry Robinson before him, Rose faces the challenge of using experience in a very different sector to enable NHS organisations to put in place the leadership that can provide improved care for patients.

Arguably, the NHS has most to learn from the private sector about how to treat patients as valued customers rather than as grateful recipients of care. Despite progress in improving patients’ access to care, much remains to be done to tackle relational aspects of care, including ensuring that patients are treated with dignity and respect and are able to communicate effectively with doctors and other staff. NHS organisations could also do more to …
The effect of washing on the thickness of the stratum corneum in normal and atopic individuals
Authors: M.I. WHITE, D. MCEWAN JENKINSON, D.H. LLOYD
Journal: British Journal of Dermatology (1987)

The thickness of, and number of cell layers in, the stratum corneum and the living epidermis were determined on frozen sections of washed and unwashed skin from normal and atopic individuals of both sexes. The stratum corneum of atopic patients was thinner and had fewer layers of dead cells and intercellular lipid than normal, although the living epidermis was thicker. Regular washing with soap and water had no appreciable effect on the dimensions of the living epidermis of either group but caused a reduction in the number of cell layers and the amount of sudanophilic material in the stratum corneum of both. In atopic patients little surface lipid remained, suggesting that washing with soap and water may be detrimental to the barrier function of the stratum corneum in such patients.
Aspirin to Prevent Gentamicin-Induced Hearing Loss
Authors: Su Hua Sha, Jian Hua Qiu, Jochen Schacht
Journal: New England Journal of Medicine (2006)

To the Editor: The use of aminoglycosides as powerful broad-spectrum, bactericidal, and nonallergenic antibiotics is limited by serious side effects, including irreversible hearing loss. Nevertheless, the drugs are commonly prescribed in some situations, including as part of the regimen against multidrug-resistant tuberculosis recommended by the World Health Organization.1 The incidence of gentamicin-induced hearing loss averages 8 percent for a short course of therapy2 but may be higher in developing countries, where aminoglycosides are frequently the only affordable antibiotics and are sold over the counter. No therapy presently exists to prevent ototoxicity. Animal models suggest that ototoxicity is caused by reactive . . .
Perspectives on Emerging Trends in Cancer Research
Authors: George C. Prendergast
Journal: Cancer Research (2011)

Cancer poses enormous personal, clinical, and societal challenges, but it is exciting to consider prospects for historic progress in treatment this decade based on developments emerging in many areas of the field. Here, I offer a personal perspective on core problems, emerging developments, and responses which investigators and their advocates may benefit from considering. This is the first of a series of editorials which will delve into the issues introduced below.
IgE‐binding and cross‐reactivity of a new 41 kDa allergen of codfish
Authors: S. Das Dores, C. Chopin, A. Romano, A.‐V. Galland‐Irmouli, D. Quaratino, C. Pascual, J. Fleurence, J.‐L. Guéant
Journal: Allergy (2002)

A 41-kDa IgE-reactive protein (p41) was purified from raw cod extract. This protein is homologous to an aldehyde phosphate dehydrogenase (APDH). The present study aims to evaluate the IgE-binding and the cross-reactivity of this protein in 13 patients allergic to codfish.IgE binding of sera from 13 patients allergic to codfish was tested by Sepharose RIA and by Western blot.Among the 13 patients, only 4 had specific IgE to APDH detected by APDH-Sepharose RIA. The two patients who had the highest level of specific IgE to human APDH also had a class 5-6 CAP-RAST IgE level to codfish, but two other patients with a class 5 had a negative APDH-Sepharose IgE-RIA. Relative content of APDH was higher in extracts of commercial nonfrozen fish, compared to pre rigor mortis, post rigor mortis and frozen commercial codfish. A high homology of codfish APDH was found with the corresponding human enzyme. A significant inhibition of APDH-Sepharose by human and, to a lesser extent, by rabbit APDH was observed. Western blot of APDH codfish extract showed two bands at 41 and 36 kDa, respectively.We have characterized a new allergen from codfish, which had a high level of homology in different species. The p41 relative content of extracts from nonfrozen codfish was higher than in the other samples assessed.
SHELF FOR RECTAL AND VAGINAL OPERATIONS
Authors: Henry F. Graham
Journal: JAMA (1913)

In many rectal and vaginal operations a shelf conveniently placed will save much time when the operator finds it necessary to lay down and pick up his needle-holder, scissors, thumb-forceps, etc., frequently. This device weighs about 3½ pounds and hooks on the lower end of the operating-table after it has been dropped. Thumbscrews permit of adjustment near to the table or farther away. After this had been made, I learned that Dr. E. B. Cragin of New York had used a similar device. In a letter he informs me that he has been using a shelf for about two years but has never described it in the journals.
<i>Journey in Thick Wood: Childhood</i>
Authors: Preeti N. Malani, Richard L. Prager
Journal: JAMA (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 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
Hypoxia and hypoxia inducible factors: Diverse roles in liver diseases
Authors: Bharath Nath, Gyongyi Szabo
Journal: Hepatology (2011)

Hypoxia has been shown to have a role in the pathogenesis of several forms of liver disease. The hypoxia inducible factors (HIFs) are a family of evolutionarily conserved transcriptional regulators that affect a homeostatic response to low oxygen tension and have been identified as key mediators of angiogenesis, inflammation, and metabolism. In this review we summarize the evidence for a role of HIFs across a range of hepatic pathophysiology. We describe regulation of the HIFs and review investigations that demonstrate a role for HIFs in the development of liver fibrosis, activation of innate immune pathways, hepatocellular carcinoma, as well as other liver diseases in both human disease as well as murine models.