tbuckley/cabot-search huggingface dataset:
Four novel mutations in ATP2C1 found in Chinese patients with Hailey-Hailey disease
Authors: H. Li, X.-K. Sun, X.-J. Zhu
Journal: British Journal of Dermatology (2003)

Journal Article Four novel mutations in ATP2C1 found in Chinese patients with Hailey–Hailey disease Get access H. Li, H. Li Department of Dermatology, Peking University First Hospital, Beijing 100034, China Search for other works by this author on: Oxford Academic Google Scholar X.‐K. Sun, X.‐K. Sun Department of Dermatology, Peking University First Hospital, Beijing 100034, China Search for other works by this author on: Oxford Academic Google Scholar X.‐J. Zhu X.‐J. Zhu Department of Dermatology, Peking University First Hospital, Beijing 100034, China Xue‐Jun Zhu. E‐mail: ZHUXJ@public.bta.net.cn Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 149, Issue 3, 1 September 2003, Pages 471–474, https://doi.org/10.1046/j.1365-2133.2003.05495.x Published: 01 September 2003 Article history Accepted: 28 March 2003 Published: 01 September 2003
Patent Ductus Arteriosus
Authors: H. T. Lynch
Journal: JAMA (1965)

Patent ductus arteriosus (PDA) has been found in several members in consecutive generations of two families. In one family the proband's father had affected children through two matings with unrelated wives. In both families, operation confirmed the PDA in each case in two generations. However, in the second family, a maternal great aunt of the proband had characteristic clinical findings, thus making three generations affected. This sequence is best explained by autosomal dominant inheritance with a high degree of specificity. Two other mechanisms for production of PDA seem well established by other studies: (1) maternal rubella and (2) a recessive characteristic. Further family studies are needed to clarify the exact mode of inheritance.
Quantitative and temporal relationships between DNA adduct formation in target and surrogate tissues: implications for biomonitoring.
Authors: S Nesnow, J Ross, G Nelson, K Holden, G Erexson, A Kligerman, R C Gupta
Journal: Environmental Health Perspectives (1993)

DNA-carcinogen adducts offer a potential dosimeter for environmental genotoxicants reaching the exposed individual. Because the target tissues for many chemical carcinogens are not readily accessible for monitoring adducts in humans, peripheral blood lymphocytes (PBLs) have served as surrogate sources of exposed DNA. Both benzo[a]pyrene (BaP) and benzo[b]fluoranthene (BbF) are widely distributed in the environment as components of complex mixtures, such as automobile exhaust, cigarette smoke, foods, water, and urban air. Thus, human exposure to these chemicals is widespread, and they probably contribute to overall human lung cancer risk. The interpretation of the results of such studies would be enhanced by an understanding of the pharmacokinetics of specific DNA adduct formation and persistence in both target and surrogate tissues. Polycyclic aromatic hydrocarbons (PAHs) were administered to male Sprague-Dawley rats IP at 100 mg PAH/kg body weight. Lung, liver, and PBL tissues were harvested 1, 3, 7, 14, 28, and 56 days after treatment. DNA was extracted from each tissue and 32P-postlabeling analysis of DNA adducts with nuclease P1 enhancement was conducted. In all three tissues, BaP-DNA adducts exhibit a similar pattern, reaching a maximum at 3-4 days, followed by a decrease to 56 days. For BbF, the maximum DNA adduct levels in each tissue were between 5 and 14 days after injection. By 56 days after administration, the total adducts remaining in all tissues were measurable. Correlation analyses of the amount of DNA adducts in lung or liver compared to those found in the PBL of the same animals suggest a range of correlations (R2 = 0.67-0.83).(ABSTRACT TRUNCATED AT 250 WORDS)
Electromagnetic Fields and Circadian Rhythms
Authors: Paul J. Schwartz
Journal: JAMA (1993)

<h3>To the Editor.</h3> —Dr Sagan<sup>1</sup>has reviewed the studies to date that pertain to the possible neurobehavioral effects of electromagnetic fields (EMFs). While the studies cited are certainly inconclusive, he did not mention the well-documented effects of EMFs on aspects of human circadian rhythms, and the implications regarding EMFs and human behavior. Environmental determinants of human behavior had been routinely ignored in our thinking about mental illness until rather recently. Witness the fundamental discoveries regarding the biological effects of natural light (electromagnetic radiation), seasons, and photoperiod on human functioning.<sup>2,3</sup>Could it be that artificial EMFs have similarly pervasive effects on human functioning? Wever<sup>4</sup>has systematically summarized his experiments concerning the effects of EMFs on circadian rhythms, as measured in temporal isolation units in West Germany (one of which was specially constructed with electromagnetic shielding). He reported that the "natural EMFs" inside the unshielded unit (ie, those penetrating
How much variation in referral rates among general practitioners is due to chance?
Authors: A. T. Moore, M. O. Roland
Journal: BMJ (1989)

A 20-fold variation in referral rates from general practitioners to hospital outpatient departments has been shown in studies published to date. Most of the hypotheses proposed to account for this variation have not been supported by these studies. A simple model was constructed, which showed that a significant part of the variation may be due to the fairly small numbers of referrals in most studies. Real differences may have been swamped by random variations in the small numbers of referrals. The statistical power of the studies may not have been high enough to determine which factors were significant in describing the variation and how much of the variation was due to differing clinical practice. There remains a substantial part of the variation that cannot be accounted for.
Ancillary Care for Public Health Research in Developing Countries
Authors: Adnan A. Hyder, Maria W. Merritt
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
BMA council member apologises for intemperate letter
Authors: L Beecham
Journal: BMJ (1994)

The BMA council has strongly criticised Dr David Roberts, a general practitioner in Northamptonshire and chairman of the Dispensing Doctors' Association, for a letter he wrote to the Chemist & Druggist. It has deplored the language in the letter and dissociated itself from the contents.

Dr Roberts's letter accused those pharmacists who were using a loophole in the regulations for opening a new pharmacy near a dispensing doctor's practice as behaving like “rats from a sewer.” He emphasised in the letter that he was a member of the BMA council.

Speakers in the heated debate at last week's council meeting believed that many people would assume that Dr Roberts was speaking on behalf of the council and they urged him to apologise. The chairman of council and the BMA secretary have assured the president of the Royal Pharmaceutical Society of Great Britain and the editor of the Chemist & Druggist that Dr Roberts's views did not represent BMA policy.

Dr Roberts eventually agreed that he would write to the magazine explaining that he was not speaking on behalf of the council and he apologised unreservedly for any misconception that the letter had caused.

He did not apologise, however, for raising the issue because he did not think that the General Medical Services Committee had taken the appropriate action to support dispensing doctors. He would not apologise, he said, to the Pharmaceutical Services Negotiating Committee, which was inciting its members to use the loophole in the regulations which denied doctors a defence against the pharmacists' applications. “If the GMSC cannot see the threat …
Large granular lymphocytic proliferation-associated cyclic thrombocytopenia
Authors: Patrick F. Fogarty, Maryalice Stetler-Stevenson, Aloysius Pereira, Cynthia E. Dunbar
Journal: American Journal of Hematology (2005)

Cyclic thrombocytopenia is a rare condition characterized by regular fluctuations in the platelet count, resulting in bleeding at the time of platelet count nadir. We evaluated a male patient whose platelet count cycled between <10 × 109/L and a maximum of >1300 × 109/L over a median of every 42 days (range, 28–57 days). Antiplatelet antibodies were present at highest titer just prior to platelet nadirs. A pathologic expansion of CD3+CD57+ large granular lymphocytes (LGLs) along with a clonal rearrangement of the T-cell receptor (TCR) gamma gene in circulating T cells was detected. LGLs decreased in response to treatment with cyclosporine-A (CsA), but the cycling of the platelet count continued. This is the first report of cyclic thrombocytopenia associated with a T-LGL lymphoproliferative disorder. Am. J. Hematol. 79:334–336, 2005.© 2005 Wiley-Liss, Inc.
Pilot Study on Light Dosimetry Variables for Photodynamic Therapy of Barrett's Esophagus with High-Grade Dysplasia
Authors: Kanwar R.S. Gill, Herbert C. Wolfsen, Norris W. Preyer, Marquitta V. Scott, Seth A. Gross, Michael B. Wallace, Linda R. Jones
Journal: Clinical Cancer Research (2009)

Abstract Purpose: Photodynamic therapy (PDT) is used to treat Barrett's esophagus with high-grade dysplasia and mucosal carcinoma. Outcomes are variable with some patients having persistent disease, whereas others develop strictures. The aims of this study were (a) to compare porfimer sodium tissue uptake, light dose, and esophageal thickness with clinical outcomes and (b) to determine the selectivity of porfimer sodium uptake in diseased and normal epithelium. Experimental Design: Forty-eight hours after porfimer sodium infusion, patients underwent mucosal biopsy for quantification of the porfimer sodium. Laser light was delivered at 48 hours and again 24 or 48 hours later. Porfimer sodium was extracted from the biopsy samples and quantified using fluorescence spectroscopy. The enhanced photodynamic dose was determined as [porfimer sodium content * light dose/esophageal thickness]. PDT efficacy was determined 6 to 8 weeks later based on persistence or complete ablation of dysplasia or carcinoma. Results: Mean porfimer sodium content of 6.2 mg/kg (range, 2.6-11.2 mg/kg) and mean total light dose of 278 J/cm (range, 225-360 J/cm) resulted in a complete treatment. Mean porfimer sodium tissue content of 3.9 mg/kg (range, 2.1-8.1 mg/kg) and mean total light dose of 268 J/cm (range, 250-350 J/cm) resulted in an incomplete treatment. The total esophageal thickness (range, 1.7-6.0 mm) and enhanced photodynamic dose were correlated with treatment outcome. Conclusions: Esophageal thickness is the strongest predictor of treatment outcome. The porfimer sodium content of Barrett's and normal tissue is not significantly different. “Photodynamic dose” for esophageal PDT should incorporate the esophageal thickness.
Glucocorticoid-induced alterations in the sodium potassium pump of the human erythrocyte.
Authors: D M Kaji, U Thakkar, T Kahn
Journal: Journal of Clinical Investigation (1981)

To evaluate the effects of glucocorticoids on the Na-K pump in human subjects, were evaluated the intracellular sodium and potassium, 42K influx across and the [3H]ouabain binding to cell membranes of intact human erythrocytes from a group of subjects taking glucocorticoids and a group of normal subjects. Intracellular sodium concentration was lower (7.2 +/- 0.4 vs. 10.9 +/- 0.2 mmol/liter cell water) and intracellular potassium concentration higher (149.8 +/- 1.5 vs. 137.2 +/- 1.2 mmol/liter cell water) in erythrocytes from steroid-treated patients. In spite of a significantly decrease intracellular sodium which normally diminishes ouabain-sensitive 42K influx, the ouabain-sensitive K influx was unchanged in erythrocytes from the steroid-treated group. Maximum [3H]ouabain binding was markedly higher in the steroid-treated group (835 +/- 44 vs. 449 +/- 11 sites/cell). There was close linear correlation between [3H]ouabain binding and inhibition of K pump, suggesting the specificity of ouabain binding to Na-K pump sites on the cell membrane. Association kinetics for ouabain were similar in the two groups despite the marked difference in the amount of [3H]ouabain binding. External potassium concentration required for half-maximum ouabain-sensitive K influx was identical in the two groups. Thus, the additional Na-K pump sites in the steroid-treated group were qualitatively similar to those in normals. These results suggest that administration of glucocorticoids leads to an increase in the number of Na-K pump sites. The increase in the number of Na-K pump sites may explain the low levels of intracellular sodium and higher cell potassium observed in steroid-treated subjects.
The Relationship between Semantic Organization and Memory in Obsessive-Compulsive Disorder
Authors: Thilo Deckersbach, Michael W. Otto, Cary R. Savage, Lee Baer, Michael A. Jenike
Journal: Psychotherapy and Psychosomatics (2000)

A variety of evidence suggests that frontostriatal dysfunction is involved in obsessive-compulsive disorder (OCD). This evidence includes both neuroimaging findings and results from studies using neuropsychological assessments. Previous studies have documented nonverbal memory deficits in individuals with OCD, whereas verbal learning and memory were less affected.The present study examined both verbal and nonverbal memory in a sample of 17 untreated outpatients with OCD. We also evaluated the effects of encoding strategies which are believed to be mediated by frontostriatal system functioning.OCD patients were significantly impaired in both verbal and nonverbal memory performance. This deficit was correlated with impairments in organizational and semantic clustering strategies at the time of encoding.Deficits in organizational strategies are consistent with frontostriatal dysfunction models in OCD.
Dip-strip method for monitoring environmental contamination of aflatoxin in food and feed: use of a portable aflatoxin detection kit.
Authors: R B Sashidhar
Journal: Environmental Health Perspectives (1993)

Aflatoxin contamination of food and feed have gained global significance due to its deleterious effect on human and animal health and its importance in the international trade. The potential of aflatoxin as a carcinogen, mutagen, teratogen, and immunosuppressive agent is well documented. The problem of aflatoxin contamination of food and feed has led to the enactment of various legislation. However, meaningful strategies for implementation of this legislation is limited by nonavailability of simple, cost-effective method for screening and detection of aflatoxin under field conditions. Keeping in mind the analytical constraints in developing countries, a simple-to-operate, rapid, reliable, and cost-effective portable aflatoxin detection kit has been developed. The important components of the kit include a hand-held UV lamp (365 nm, 4 W output), a solvent blender (12,000 rpm) for toxin extraction, and adsorbent-coated dip-strips (polyester film) for detecting and quantifying aflatoxin. Analysis of variance indicates that there were no significant differences between various batches of dip-strips (p > 0.05). The minimum detection limit for aflatoxin B1 was 10 ppb per spot. The kit may find wide application as a research tool in public health laboratories, environmental monitoring agencies, and in the poultry industry.
Measles deaths fell by more than 90% worldwide from 2000 to 2008, except in southern Asia
Authors: J. Zarocostas
Journal: BMJ (2009)

The United Nations’ goal to achieve a 90% fall in measles mortality between 2000 and 2010 has been achieved in all World Health Organization regions except its South-East Asia region, experts from the international partnership the Measles Initiative said last week.

The fall in the number of deaths in Africa reached 92% from 2000 to 2008, but in the WHO South-East Asia region, which includes heavily populated nations such as India, Indonesia, and Bangladesh, the decline was only 46%. Consequently the total decline worldwide was 78%.

“Delayed implementation of …
Specific Induction of <i>tie1</i> Promoter by Disturbed Flow in Atherosclerosis-Prone Vascular Niches and Flow-Obstructing Pathologies
Authors: Rinnat M. Porat, Myriam Grunewald, Anat Globerman, Ahuva Itin, Gregory Barshtein, Leena Alhonen, Kari Alitalo, Eli Keshet
Journal: Circulation Research (2003)

Nonlaminar flow is a major predisposing factor to atherosclerosis. Yet little is known regarding hemodynamic gene regulation in disease-prone areas of the vascular tree in vivo. We have determined spatial patterns of expression of endothelial cell receptors in the arterial tree and of reporter gene constructs in transgenic animals. In this study we show that the endothelial cell–specific receptor Tie1 is induced by disturbed flow in atherogenic vascular niches. Specifically, tie1 expression in the adult is upregulated in vascular bifurcations and branching points along the arterial tree. It is often confined to a single ring of endothelial cells functioning as sphincters and hence experiencing the steepest gradient in shear stress. In aortic valves, tie1 is asymmetrically induced only in endothelial cells encountering changes in flow direction. Disturbance of laminar flow by a surgical interposition of a vein into an artery led to induction of tie1 , specifically in the region where the differently sized vessels adjoin. In pathological settings, tie1 expression is specifically induced in areas of disturbed flow because of the emergence of aneurysms and, importantly, in endothelial cells precisely overlying atherosclerotic plaques. Hemodynamic features of atherosclerotic lesion-prone regions, recreated in vitro with the aid of a flow chamber with a built-in step, corroborated an upregulated tie1 promoter activity only in cells residing where flow separation and recirculation take place. These defined promoter elements might be harnessed for targeting gene expression to atherosclerotic lesions.
Childless men seem to have lower risk of prostate cancer than those with children
Authors: David Spurgeon
Journal: BMJ (2008)

Men without children have a moderately reduced risk of developing prostate cancer compared with fathers, yet paradoxically, the more children a father has, the lower his risk of getting the disease. The study, which appeared online on 7 January (doi: 10.1002/cncr.23230) will appear in the 15 February issue of the journal Cancer .

Previous evidence had suggested that childless men might be at lower risk of prostate cancer than men with children and that men who …
Nanomedicine therapeutic approaches to overcome cancer drug resistance
Authors: Janet L. Markman, Arthur Rekechenetskiy, Eggehard Holler, Julia Y. Ljubimova
Journal: Advanced Drug Delivery Reviews (2013)

Nanomedicine is an emerging form of therapy that focuses on alternative drug delivery and improvement of the treatment efficacy while reducing detrimental side effects to normal tissues. Cancer drug resistance is a complicated process that involves multiple mechanisms. Here we discuss the major forms of drug resistance and the new possibilities that nanomedicines offer to overcome these treatment obstacles. Novel nanomedicines that have a high ability for flexible, fast drug design and production based on tumor genetic profiles can be created making drug selection for personal patient treatment much more intensive and effective. This review aims to demonstrate the advantage of the young medical science field, nanomedicine, for overcoming cancer drug resistance. With the advanced design and alternative mechanisms of drug delivery known for different nanodrugs including liposomes, polymer conjugates, micelles, dendrimers, carbon-based, and metallic nanoparticles, overcoming various forms of multi-drug resistance looks promising and opens new horizons for cancer treatment.
Ca2+ regulation of mechanical properties of striated muscle. Mechanistic studies using extraction and replacement of regulatory proteins.
Authors: R L Moss
Journal: Circulation Research (1992)

Extraction of regulatory proteins from thick and thin filaments of vertebrate striated muscle has proven to be an important approach in elucidating roles of these proteins in regulating contraction and in probing specific mechanisms of activation. For some proteins, such as LC2 and C protein, extraction has been fundamental in demonstrating the importance of these proteins in modulating contraction and the kinetics of cross-bridge interaction. For other proteins, such as TnC and troponin, extraction has provided significant insight into the importance of thin-filament intermolecular cooperativity in modulating Ca2+ sensitivity of the contractile process. A combination of extraction and readdition has provided a means of introducing mutated or derivatized proteins into fibers to accomplish a variety of experimental objectives. The use of this approach is likely to grow with the need to test the functional consequences of site-specific mutations as part of studies directed to mechanisms of regulation or altered regulation in heart and skeletal muscles under normal and pathophysiological conditions. Such studies are likely to include extraction in combination with other probes of function such as flash photolysis of reaction substrates or products within the cross-bridge interaction cycle. Although extraction is a powerful approach and is likely to be extended to proteins not discussed in this review, an essential element of experimental design in studies such as these is that appropriate control experiments be done to verify that observed effects of the extraction protocol are specifically attributable to the protein that is removed.
Removal expenses of clinical academic staff
Authors: E Grey-Turner
Journal: BMJ (1977)

Relation of lecithin :sphingomyelin ratio (LSR) to presence of vernix in amntiotic fluxid LSR I Total ;2 !2 1-3 >3 No vernix seen 17 12 4 33 Cloudy, with doubtful 0 4 8 12 presence of vernix Vernix definitely present 0 5 29 34 Total 17 21 41 79Z2= 3487; DF 4; P <0(001; contingency coefficient 0-55.LSR is sometimes found in clear amniotic fluid, no immature LSR (> 2) was seen whenever vernix was present.Our findings suggest that amnioscopy might be used to assess fetal maturity before induction of labour.Induction can proceed if vernix is seen in the amniotic fluid and amniocentesis for the measurement of amniotic fluid LSR need be performed only when no vernix is seen.