tbuckley/cabot-search huggingface dataset:
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy
Authors: N. Sheth, D. Greenblatt, J.A. McGrath
Journal: British Journal of Dermatology (2007)

Journal Article New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy Get access N. Sheth, N. Sheth Department of Dermatology, Ealing Hospital, Southall UB1 3HW, U.K. *Genetic Skin Disease Group, St John's Institute of Dermatology, St Thomas' Hospital, London SE1 7EH, U.K. E‐mail: nisithsheth@yahoo.co.uk Search for other works by this author on: Oxford Academic Google Scholar D. Greenblatt, D. Greenblatt Department of Dermatology, Ealing Hospital, Southall UB1 3HW, U.K. *Genetic Skin Disease Group, St John's Institute of Dermatology, St Thomas' Hospital, London SE1 7EH, U.K. E‐mail: nisithsheth@yahoo.co.uk Search for other works by this author on: Oxford Academic Google Scholar J.A. McGrath J.A. McGrath Department of Dermatology, Ealing Hospital, Southall UB1 3HW, U.K. *Genetic Skin Disease Group, St John's Institute of Dermatology, St Thomas' Hospital, London SE1 7EH, U.K. E‐mail: nisithsheth@yahoo.co.uk Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 157, Issue 3, 1 September 2007, Pages 602–604, https://doi.org/10.1111/j.1365-2133.2007.08054.x Published: 01 September 2007
Rapid Quantitative Barbiturate Estimation
Authors: A. S. Curray
Journal: BMJ (1964)

<b>Objective</b> To determine the relative costs and health effects of interventions to combat cardiovascular disease, diabetes, and tobacco related disease in order to guide the allocation of resources in developing countries. <b>Design</b> Cost effectiveness analysis of 123 single or combined prevention and treatment strategies for cardiovascular disease, diabetes, and smoking by means of a lifetime population model. <b>Setting</b> Two World Health Organization sub-regions of the world: countries in sub-Saharan Africa with very high adult and high child mortality (AfrE) and countries in South East Asia with high adult and high child mortality (SearD). <b>Data sources</b> Demographic and epidemiological data were taken from the WHO databases of mortality and global burden of disease. Estimates of intervention coverage, effectiveness, and resource needs were drawn from clinical trials, observational studies, and treatment guidelines. Unit costs were taken from the WHO-CHOICE (Choosing Interventions that are Cost-Effective) price database. <b>Main outcome measures</b> Cost per disability adjusted life year (DALY) averted, expressed in international dollars ($Int) for the year 2005. <b>Results</b> Most of the interventions studied were considered highly cost effective, meaning they generate one healthy year of life at a cost of &lt;$Int2000 (which is the gross domestic product per capita of the two regions considered here). Interventions that offer particularly good monetary value, and which could be considered for prioritised implementation or scale up, include demand reduction strategies of the Framework Convention for Tobacco Control (&lt;$Int950 and &lt;$Int200 per DALY averted in AfrE and SearD respectively); combination drug therapy for people with a &gt;25% chance of experiencing a cardiovascular event over the next decade, either alone or together with specific multidrug regimens for the secondary prevention of post-acute ischaemic heart disease and stroke (&lt;$Int150 and &lt;$Int230 per DALY averted in AfrE and SearD respectively); and retinopathy screening and glycaemic control for patients with diabetes (&lt;$Int2100 and &lt;$Int950 per DALY averted in AfrE and SearD respectively). <b>Conclusion</b> This comparative economic assessment has identified a set of population-wide and individual strategies for prevention and control of cardiovascular disease that are inexpensive and cost effective in low resource settings.
Man-made Death: A Neglected Mortality
Authors: Richard Rhodes
Journal: JAMA (1988)

"Public man-made death," death from war, political violence, and their attendant privations, should be monitored, nation by nation, to expose to public view national responsibility for a major loss of human life and thereby encourage its reduction. Although statistics concerning man-made death would be difficult to assemble because of government resistance, their comparison to disease mortality statistics would identify epidemic disease with developing nations and man-made mortality with "advanced" nations, providing useful information for the provision of national and international aid for its alleviation and, at the very least, giving people a basis against which to judge the claims of felicity of rival political systems.
Effects of menstruation and contraceptive pill on the performance of physical education students.
Authors: P. Bale, J. Davies
Journal: British Journal of Sports Medicine (1983)

Of the 109 specialist female physical education students who answered a detailed questionnaire on menstruation and the contraceptive pill in relation to exercise, 91 (83.5%) reported that they suffered menstrual problems. These included stomach ache, depression, abdominal cramps and backache. Over two-thirds of the students considered that these problems adversely influenced their physical performance. However, whether they had a mainly physiological or psychological effect is not clear. Many of the students with menstrual problems thought that exercise had a beneficial effect and helped alleviate their discomfort. A small number of students reported problems such as amenorrhoea and reduced menses possibly due to excessive training. Just under half the students in the investigation took the contraceptive pill, and though as many students taking the pill complained of menstrual problems as those not taking it, they reported less problems and to a lesser degree. Most students claimed that taking the contraceptive pill had no effect upon their performance.Of the 109 specialist female physical education students who answered a detailed questionnaire on menstruation and the contraceptive pill in relation to exercise, 91 (83.5%) reported that they suffered menstrual problems. These included stomach ache, depression, abdominal cramps, and backache. Over 2/3 of the students considered that these problems adversely influenced their physical performance. However, whether they had a mainly physiological or psychological effect is not clear. Many of the students with menstrual problems thought that exercise had a beneficial effect and helped alleviate their discomfort. A small number of students reported problems such as amenorrhea and reduced menses possibly due to excessive training. Just under 1/2 of the students in the investigation took OCs, and though as many students taking the pill complained of menstrual problems as those not taking it, they reported less problems and to a lesser degree. Most students claimed that taking OCs had no effect on their performance.
Addison's disease: after 40 years much remains the same
Authors: S. Baker
Journal: BMJ (2001)

EDITOR—Hilditch was diagnosed as having Addison's disease 40 years ago, when blood tests were more expensive and less frequently used for general screening than they are now.1 Her experience that the disease was not diagnosed until she was near death is, however, still common to many patients today and prompts the remark that “Getting diagnosed is …
Novel platelet-agglutinating protein from a thrombotic thrombocytopenic purpura plasma.
Authors: F A Siddiqui, E C Lian
Journal: Journal of Clinical Investigation (1985)

A novel platelet-agglutinating protein (PAP) was purified approximately 2,000-fold from the plasma of a patient with thrombotic thrombocytopenic purpura (TTP) by ammonium sulfate fractionation, DEAE-Sephacel and concanavalin A-Sepharose chromatographies. On sodium dodecyl sulfate-polyacrylamide gel electrophoresis, with and without reduction, this preparation revealed a major protein band with a molecular weight of 37,000, and a minor band with a molecular weight of 32,000-34,000. After elution from the gel, only the 37,000-mol wt protein corresponding to the major band induced the platelet agglutination. When four normal plasmas and the recovery plasma from the same TTP patient were subjected to the similar purification steps, the 37,000-mol wt major band was absent. The 125I-PAP bound to the platelets in a concentration-dependent manner. The platelet agglutination induced by PAP was not inhibited by hirudin, heparin in the presence of antithrombin III, phenylmethylsulfonyl fluoride, apyrase, aspirin, or prostaglandin I2. However, it was inhibited by IgG from normal adults and from the same TTP patient after recovery. The anti-37,000-mol wt PAP antiserum prepared in the rabbit formed a single precipitin line against the highly purified PAP. Using this antiserum in the Western immunoblotting, the 37,000-mol wt protein band was found in the three TTP plasmas, of which the platelet-agglutinating activity was inhibited by the anti-37,000-mol wt PAP IgG. The 37,000-mol wt immunoprecipitin band was absent in the plasmas obtained from another two TTP patients, two normal subjects, two patients with idiopathic thrombocytopenic purpura, and two patients with disseminated intravascular coagulation. These results suggest that the 37,000-mol wt PAP is present only in certain cases of TTP, and is likely to be responsible for the formation of platelet thrombi in the microcirculation.
Pressor Response in Medical House Officers On Call
Authors: SAMUEL A. BRODY
Journal: Annals of Internal Medicine (1987)

Letters and Corrections1 July 1987Pressor Response in Medical House Officers On CallSAMUEL A. BRODY, M.D.SAMUEL A. BRODY, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-107-1-123 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: Mehler and Anderson, in their article on the mechanism of pressor response in medical house officers on call (1), provide physiologic confirmation for what most present and former residents realize is a stressful experience. If studies such as this improve the quality of practice in physicians, then all the better. I am concerned, however, that this may not be the case.From 1977 through 1980, I was a medical resident at the Vanderbilt University affiliated hospitals. As an intern, I was on call every other night for 10 months. I was married (I still am and to...Reference1. MEHLERANDERSON PR. Mechanism of pressor response in medical house officers on call. Ann Intern Med. 1987;106:560-1. LinkGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: 1450 Coolidge Avenue; Baldwin, NY 11510 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 July 1987Volume 107, Issue 1Page: 123-123 Issue Published: 1 July 1987 PDF DownloadLoading ...
Continuing medical education: where next?
Authors: P. Toghill
Journal: BMJ (1998)

The recent BMJ series on continuing medical education highlights the need for more efficient, up to date, and accountable programmes. Over the past three to four years the royal medical colleges in Britain have implemented their own schemes of formal continuing education. Adequate educational opportunities now exist for most British clinicians,1 though much of the education offered is a diet of lectures, symposiums, and specialist society meetings. Given that lectures are not the ideal vehicle for adult learning, what other initiatives are available for practising doctors and what can we learn from new developments in Britain and world wide?

There are two ground rules. Firstly, every doctor has a personal responsibility to keep up to date and, secondly, trained professionals must be responsible for directing their own lifelong learning. 2 3 Accordingly, to help clinicians cope with the prodigious growth of information and to focus their effort, colleges and specialist societies have introduced, or are introducing, journal articles specifically designed for continuing medical education: many include …
2. Cellular Mechanisms Involved with Lentiviral Gene Transfer
Authors: Shangming Zhang, Karen Pollok, Lakshmi Sastry, Lionel Berthoux, Jeremy Luban, Kenneth Cornetta
Journal: Molecular Therapy (2005)

Lentiviral vectors derived from the human immunodeficiency virus-1 (HIV-1) have potential for gene therapy applications. We demonstrate that Genistein (GEN), a previously known protein tyrosine kinase (PTK) inhibitor which also induces G2 cell cycle arrest, enhances lentiviral gene transduction by 2|[ndash]|5 folds in a variety of human cell lines, primary human CD34+ peripheral blood progenitor cells and murine primary lymphocytes. In contrast to lentiviral vectors, transduction with a retroviral vector,MFG-eGFP, is inhibited by GEN. Enhanced lentiviral gene transfer is seen in vectors pseudotyped with RRV, VSVG or ecotropic envelopes, indicating that the effect is vector-dependent and envelope-independent. The effect is dose dependent as GEN at 15 mM or 60 mM increased vector copy number by 2-or 6-fold, respectively. The effect was confirmed by expression of GFP in transduced cells and by vector copy number using real-time PCR. The GEN effect on lentiviral transduction positively correlates with the percentage of cells in G2 arrest. A similar increase in lentiviral gene transfer was noted with another G2 arresting agent, Nocodazole. Arrest in G1 with dexamethasone or G0 using serum deprivation failed to increase or significantly reduced gene transfer. However, Pentoxyfylline, which is known to reverse G2 arrest, only partially antagonized the effect of GEN on gene transfer while it completely reversed GEN-mediated G2 arrest. This suggests that G2 cell cycle arrest contributes to but is not the only factor mediating increased gene transfer.
Histocompatibility antigens in psoriasis, psoriatic arthropathy, and ankylosing spondylitis.
Authors: R D Armstrong, G S Panayi, K I Welsh
Journal: Annals of the Rheumatic Diseases (1983)

Patients with ankylosing spondylitis, psoriatic arthritis, and psoriasis alone were typed for HLA A, B, Cw, and DR antigens, and the antigen frequencies were compared with those in a normal control population and in patients with rheumatoid arthritis. Patients with psoriasis had a significantly raised frequency of Cw6. Those with arthritis in addition to their psoriasis also had raised frequencies of B27 and DR7. Patients with ankylosing spondylitis were characterised by the expected high frequency of HLA B27. Again, those with peripheral arthritis had a higher B27 and DR7 frequency than those without. DR3 is associated with the development of erosions in psoriatic arthritis.
Normal blood pressure and preserved diurnal variation in offspring of type 2 diabetic patients characterized by features of the metabolic syndrome: the Fredericia Study.
Authors: C H Foss, E Vestbo, A Frøland, H J Gjessing, C E Mogensen, E M Damsgaard
Journal: Diabetes Care (2000)

To examine whether an elevated blood pressure (BP) level and an impaired reduction in nocturnal BP are already present in nondiabetic first-degree relatives of type 2 diabetic patients.We examined 253 offspring of type 2 diabetic patients using ambulatory BP monitoring and compared the BP level and profile with 275 offspring of nondiabetic subjects. Anthropometric measures and cholesterol, fasting blood glucose, and insulin levels were also compared between groups.No significant differences in BP level (P > 0.05) or diurnal BP profile were evident between the nondiabetic glucose-tolerant offspring of type 2 diabetic subjects and the offspring of nondiabetic subjects. BMI (P < 0.05 and P < 0.01, male vs. female), waist-to-hip ratio (P < 0.05), fasting blood glucose (P < 0.01), C-peptide (P < 0.05 and P < 0.01, male vs. female), insulin resistance index (P < 0.05 and P < 0.01, male vs. female), triglycerides (P < 0.05), apolipoprotein B (apoB) (P < 0.01 and P < 0.05, male vs. female), and apoA1/apoB (P < 0.01) were significantly higher in the nondiabetic offspring of type 2 diabetic subjects than in the offspring of nondiabetic subjects.This study shows a preserved diurnal BP profile and a normal BP level in the nondiabetic glucose-tolerant offspring of type 2 diabetic subjects compared with the offspring of nondiabetic subjects, although the offspring of diabetic patients are characterized by features of the metabolic syndrome.
AB0116 Sirt-1 Activity in PBMC from Patients with Rheumatoid Arthritis: Table 1
Authors: D. Wendling, C. Vidon, K.A. Khan, X. Guillot, M. Godfrin-Valnet, W. Abbas, E. Toussirot, L. Baud, C. Prati, G. Herbein
Journal: Annals of the Rheumatic Diseases (2014)

<h3>Background</h3> Sirtuin 1 (Sirt1) is a nuclear enzyme from the class III histone deacetylases (HDACs) modulating gene expression, involved in the regulation of various biological processes (cell survival, apoptosis, gluconeogenesis, adipogenesis, lipolysis), local and systemic inflammation, as well as in bone and cartilage remodeling. Sirt-1 reduces pro inflammatory cytokines release. <h3>Objectives</h3> The main objective of the study was to evaluate Sirt1 activity in PBMC by venous blood aspiration in rheumatoid arthritis (RA) patients, compared to those of control patients, and to analyze the relationship between Sirt1 activity, disease activity and production of mediators of inflammation and cytokines (TNFalpha, IL-6, IL-8) by the cells, before and after ex vivo treatment with a Sirtuin activator, resveratrol. <h3>Methods</h3> A prospective and comparative monocentric study was performed in order to compare the activity of Sirt1 in patients with RA (according to ACR criteria) and controls. Disease activity was assessed by DAS28 (ESR) and CRP. PBMC were isolated from venous blood, and Sirt1 activity was evaluated from cytoplasmic and nuclear compartments using a fluorometric assay (SIRT1 fluorimetric kit, BML-AK-555, Enzo Life Sciences, Villeurbanne, France) at the 15 minutes point. Culture supernatant levels of TNF alpha, IL-6, IL-8 were quantified before and after resveratrol (1 μmol and 5 μmol) ex vivo treatment, with commercial kits (Quantikine Kits, R&amp;D Systems, Minneapolis, MN). Statistical analysis used Wilcoxon and t tests; significance: p less than 0.05. <h3>Results</h3> Twenty two patients with RA (age 55±12 years, meanDAS28: 4.27;disease duration 15±10 years; 75% ACPA +; mean CRP: 12.7 mg/l) and 18 controls (age 54±13 years) were included. No differences were found in cytoplasmic or nuclear Sirt1 activity between patients and controls. Cytoplasmic and nuclear Sirt1 activity were correlated in patients and controls. Sirt1 activity (nuclear and cytoplasmic) was not correlated with DAS28, CRP or ESR, but cytoplasmic Sirt-1 activity was correlated to baseline IL-6 (p=0.02) and baseline TNF (p=0.04) in RA and controls, but not with IL-8. Sirt1 activity (cytoplasmic and nuclear) was lower in RA ACPA+ compared to ACPA neg, and nuclear activity was higher in patients treated with corticosteroids. After resveratrol treatment, no changes in TNF, IL-6 or IL-8 levels were found, <h3>Conclusions</h3> Sirt1 activity (cytoplasmic and nuclear) from PBMC was not different between RA patients and controls, nevertheless, the correlation in RA with Sirt1 activity and TNF and IL-6 levels, as well as reduced Sirt1 activity in ACPA + patients suggest an implication of this epigenetic regulation in RA. <h3>Disclosure of Interest</h3> None declared <h3>DOI</h3> 10.1136/annrheumdis-2014-eular.1584
Gastrointestinal Dysfunction in Immunoglobulin Deficiency
Authors: Jose A. Diaz-Buxo
Journal: JAMA (1975)

Idiopathic late-onset immunoglobulin deficiency in a young man was associated with achlorhydria and a severe intestinal malabsorption syndrome that did not respond to conventional therapy. Combined therapy with high doses of prednisone and tetracycline hydrochloride resulted in weight gain, cessation of diarrhea, improved absorption of water, fat, and vitamin B12, and production of gastric acid after stimulation with histamine. Serum immunoglobulin levels, however, did not increase.
High-affinity binding of interferon-gamma to a basement membrane complex (matrigel).
Authors: H Lortat-Jacob, H K Kleinman, J A Grimaud
Journal: Journal of Clinical Investigation (1991)

Recently it was demonstrated that growth factors are bound to the extracellular matrix, and can regulate cell behavior. Using three different types of binding assays, we have examined the interaction of interferon-gamma with a basement membrane produced by the Engelbreth-Holm-Swarm tumor. Basement membrane was found to bind interferon-gamma in both a time- and concentration-dependent manner. Equilibrium binding analysis revealed a high-affinity site with a dissociation constant of 1.5 10(-9) M and a maximum binding capacity of 1.6 10(9) sites/mm2 of basement membrane. Competition studies show that the binding is inhibited by heparan sulfate, suggesting that basement membrane-heparan sulfate proteoglycan could be the binding site. This interaction was clearly confirmed by native polyacrylamide gel electrophoresis and dot-blot analysis with purified basement membrane molecules. Furthermore, the carboxy-terminal part of the interferon-gamma molecule contains an amino acid cluster, very closely related to a consensus sequence, present in more than 20 proteins known to bind sulfated glycosaminoglycans such as heparin. These data demonstrate a possible role of extracellular matrix components in storing cytokines and in modulating the cellular response to such factors.
Long-term intensive treatment of type 1 diabetes with the short-acting insulin analog lispro in variable combination with NPH insulin at mealtime.
Authors: C Lalli, M Ciofetta, P Del Sindaco, E Torlone, S Pampanelli, P Compagnucci, M G Cartechini, L Bartocci, P Brunetti, G B Bolli
Journal: Diabetes Care (1999)

OBJECTIVE: To establish whether the short-acting insulin analog lispro can be successfully implemented in long-term intensive insulin therapy in type 1 diabetes, and if so, what its effects are on glycemic control and frequency and awareness of hypoglycemia. RESEARCH DESIGN AND METHODS: We randomized 56 type 1 diabetic patients to treatment with either lispro (n = 28) or human regular insulin (Hum-R; n = 28) as mealtime insulin for 1 year (open design, parallel groups). Lispro was injected at mealtime and Hum-R was given 10-40 min before meals (bedtime NPH was continued on both occasions). With lispro, NPH was added at breakfast (approximately 70/30), lunch (approximately 60/40), and supper (approximately 80/20) (mixing percentage of lispro/NPH) to optimize premeal and bedtime blood glucose. RESULTS: Total daily insulin units were no different in the two treatment groups, but with lispro approximately 30% less short-acting insulin at meals and approximately 30% more NPH was needed versus Hum-R (P &amp;lt; 0.05). The bedtime NPH dosage was no different. With lispro + NPH, the mean daily blood glucose was lower than with Hum-R (8.0 +/- 0.1 vs. 8.8 +/- 0.1 mmol/l; P &amp;lt; 0.05), HbA1c was lower (6.34 +/- 0.10 vs. 6.71 +/- 0.11%, mean value over 1 year; P &amp;lt; 0.002), and hypoglycemia (blood glucose &amp;lt; or = 3.8 mmol/l) was less frequent (7.4 +/- 0.5 vs. 11.5 +/- 0.7 episodes/patient-month) and tended to occur more within 90 min after meals than in the postabsorptive state (P &amp;lt; 0.05 vs. Hum-R). After 1 year, plasma adrenaline and symptom responses to experimental, stepped hypoglycemia improved with lispro and were closer to the responses of 12 nondiabetic control subjects versus Hum-R both in terms of thresholds and magnitude (P &amp;lt; 0.05). CONCLUSIONS: We concluded that mealtime injection of lispro + NPH improves the 24-h blood glucose and the percentage HbA1c as compared with Hum-R. The improvement can be maintained long term. Intensive therapy with lispro + NPH results in less frequent hypoglycemia and better awareness and counterregulation of hypoglycemia.