tbuckley/cabot-search huggingface dataset:
<i>SQSTM1</i>Mutations in French Patients With Frontotemporal Dementia or Frontotemporal Dementia With Amyotrophic Lateral Sclerosis
Authors: Isabelle Le Ber, Agnès Camuzat, Rita Guerreiro, Kawtar Bouya-Ahmed, Jose Bras, Gael Nicolas, Audrey Gabelle, Mira Didic, Anne De Septenville, Stéphanie Millecamps, Timothée Lenglet, Morwena Latouche, Edor Kabashi, Dominique Campion, Didier Hannequin, John Hardy, Alexis Brice
Journal: JAMA Neurology (2013)

Mutations in the SQSTM1 gene, coding for p62, are a cause of Paget disease of bone and amyotrophic lateral sclerosis (ALS). Recently, SQSTM1 mutations were confirmed in ALS, and mutations were also identified in 3 patients with frontotemporal dementia (FTD), suggesting a role for SQSTM1 in FTD.To evaluate the exact contribution of SQSTM1 to FTD and FTD with ALS (FTD-ALS) in an independent cohort of patients.A SQSTM1 mutation was first identified in a multiplex family with FTD by use of whole-exome sequencing. To evaluate the frequency of SQSTM1 mutations, we sequenced this gene in a cohort of patients with FTD or FTD-ALS, with no mutations in known FTD and ALS genes.Primary care or referral center.An overall cohort of 188 French patients, including 132 probands with FTD and 56 probands with FTD-ALS.Frequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes.We identified 4 heterozygous missense mutations in 4 unrelated families with FTD; only 1 family had clinical symptoms of Paget disease of bone, and only 1 family had clinical symptoms of FTD-ALS, possibly owing to the low penetrance of some of the clinical manifestations.Although the frequency of the mutations is low in our series (4 of 188 patients [2%]), our results, similar to those already reported, support a direct pathogenic role of p62 in different types of FTD.
Clinical effects of recent cocaine use on patients with acute schizophrenia
Authors: M R Serper, M Alpert, N A Richardson, S Dickson, M H Allen, A Werner
Journal: American Journal of Psychiatry (1995)

Dopamine function has been hypothesized to be involved in both producing schizophrenic symptoms and mediating cocaine's reinforcing properties. As a result, cocaine abuse in schizophrenic patients may be seen as a natural experiment that may alter the phenomenology and neurobiology of schizophrenia. This report concerns the clinical effects of cocaine abuse and cessation in schizophrenic patients at two times: when patients presented to the psychiatric emergency service and again after 4 weeks of hospitalization.The subjects were 15 cocaine-abusing and 22 cocaine-abstaining schizophrenic patients. Diagnostic assessments were performed with the Structured Clinical Interview for DSM-III-R--Patient Version, which uses DSM-III-R criteria. All of the patients were assessed at both times with the Brief Psychiatric Rating Scale, the Scale for the Assessment of Positive Symptoms, and the Scale for the Assessment of Negative Symptoms.Cocaine-abusing schizophrenic patients showed fewer negative signs and more anxiety/depression at the hospital-admission assessment than their nonabusing counterparts. At retest, no group differences were detected in patients' negative signs or mood symptoms. Severity of positive symptoms was equal at both testing sessions.The significant difference in negative signs and mood symptoms at admission assessment was attributed to the neurobiological impact of cocaine. The role of psychostimulants in schizophrenic patients is discussed.
Dynamic 3-Dimensional Stress Cardiac Magnetic Resonance Perfusion Imaging
Authors: Robert Manka, Cosima Jahnke, Sebastian Kozerke, Viton Vitanis, Gerard Crelier, Rolf Gebker, Bernhard Schnackenburg, Peter Boesiger, Eckart Fleck, Ingo Paetsch
Journal: Journal of the American College of Cardiology (2011)
Alan Milburn signs concordat with the private sector
Authors: J. O'Neale
Journal: BMJ (2000)

The health secretary, Alan Milburn, signed an official concordat with the independent healthcare sector this week, under which health authorities in England will be able to make greater use of beds in the private sector.

The concordat describes the parameters for partnership between the NHS and private and voluntary healthcare providers. It focuses initially on three joint areas of working: elective care, critical care, and …
<scp>CYT</scp>003, a <scp>TLR</scp>9 agonist, in persistent allergic asthma – a randomized placebo‐controlled Phase 2b study
Authors: T. B. Casale, J. Cole, E. Beck, C. F. Vogelmeier, J. Willers, C. Lassen, A. Hammann‐Haenni, L. Trokan, P. Saudan, M. E. Wechsler
Journal: Allergy (2015)

Abstract Background New treatment options are required for patients with asthma not sufficiently controlled with inhaled therapies. In a P hase 2a trial, CYT 003, a T oll‐like receptor‐9 agonist immunomodulator, improved asthma control during inhaled glucocorticosteroid reduction in patients with allergic asthma. This double‐blind P hase 2b study assessed the efficacy and safety of CYT 003 in patients with persistent moderate‐to‐severe allergic asthma not sufficiently controlled on standard inhaled glucocorticosteroid therapy with/without long‐acting beta‐agonists ( LABA s). Methods Overall, 365 patients received seven doses of subcutaneous CYT 003 (0.3, 1, or 2 mg) or placebo as add‐on therapy to conventional controller medication. Change from baseline in A sthma C ontrol Q uestionnaire ( ACQ ) score was the primary outcome; secondary outcomes included change in forced expiratory volume, M ini A sthma Q uality of L ife Q uestionnaire, and safety. Results All groups, including placebo, showed a clinically important improvement in ACQ score; however, there was no significant difference between the CYT 003 and placebo groups at week 12 (least‐squares mean difference 0.3 mg: −0.027 [95% confidence interval −0.259 to 0.204]; 1 mg: 0.097 [−0.131 to 0.325]; 2 mg: 0.081 [−0.148 to 0.315]). No significant differences were seen in secondary outcomes. CYT 003 was well tolerated; the most common treatment‐emergent adverse events were injection site reactions. Due to lack of efficacy, the study was prematurely terminated at the end of the treatment phase with no further follow‐up. Conclusions Toll‐like receptor‐9 agonism with CYT 003 showed no additional benefit in patients with insufficiently controlled moderate‐to‐severe allergic asthma receiving standard inhaled glucocorticosteroid therapy with or without LABA s.
Statin Use During Hospitalization for Intracerebral Hemorrhage
Authors: Yi Yang, Peng-Peng Niu
Journal: JAMA Neurology (2015)

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 Neurology 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 Neurology journal
Ubiquitination-mediated p57Kip2 degradation by CSN5-Skp2 confers cancer development
Authors: Ruiying Zhao, Jian Chen, Mong-Hong Lee
Journal: Cancer Research (2008)

2594  As a Cip/Kip family member, p57Kip2 has a p21Cip1/ p27Kip1-related CDK inhibitory domain at its amino-terminus, thus this domain gives p57Kip2 the ability to be a potent inhibitor of G1- and S- phase CDKs. The CDK inhibitory effect of p57Kip2 has been characterized both in vitro and in vivo and, importantly, p57Kip2 is the only CDK inhibitor shown to be essential for mouse embryogenesis, which suggests p57Kip2 has a specific role that cannot be compensated by other CDK inhibitors. p57Kip2 is frequently deregulated in many human cancers but the molecular mechanism of p57Kip2 regulation is still nebulous. So far, the only evidence contributed to p57Kip2 downregulation is genomic imprinting and promote methylation. Here we showed that overexpression of CSN5, the fifth component of the COP9 signalsome, leads to decreased level of p57Kip2 and ectopic expression of CSN5 partially overcomes p57Kip2-mediated arrest in the G1 phase of the cell cycle in the human breast cancer cell line MDA-MB-453. Since CSN5 is the only Jab1/MPN domain metalloenzyme (JAMM) motif containing subunit and is responsible for covalently modification of the cullin subunits of Cullin-RING E3 ubiqutin ligases, we further investigate the underlying mechanism in which CSN5-mediated p57Kip2 downregulation. Immunoprecipitation and domain mapping studies showed that CSN5 interacts specifically with p57Kip2 through its N-terminus MPN domain. Enforced expression of CSN5 promotes poly-ubiquitination of p57Kip2. Interestingly, Skp2 is known as the specific E3 ubiqutin ligase of p57Kip2 involved in the degradation of p57Kip2. Further studies reveal Skp2-induced p57Kip2 degradation is compromised while CSN5 is depleted by RNA interference and knockdown of CSN5 causes destabilization of Skp2. In addition, besides CSN5, CSN1, 2, and 6 were all capable of inducing p57Kip2 down-regulation, while ectopically expressed. These results indicate that CSN5 along with COP9 signalosome negatively regulate p57Kip2 through promoting its ubiqutination-mediated proteolysis. Most importantly, clinical study showed the reverse correlation between the expressions of p57Kip2 and CSN5 in both human breast cancer cell lines and thyroid follicular carcinoma specimens. In conclusion, CSN5 collaborates with other COP9 subunits to control the intracellular abundance of p57Kip2, a key regulator of cell cycle, which in turn contributes to the progression of human malignant diseases. Interfering with CSN5 expression probably will be a useful treatment strategy for cancers associated with p57Kip2 deregulation.
Delusional infestation and the specimen sign: a European multicentre study in 148 consecutive cases
Authors: R.W. Freudenmann, P. Lepping, M. Huber, S. Dieckmann, K. Bauer-Dubau, R. Ignatius, L. Misery, M. Schollhammer, W. Harth, R.E. Taylor, A.P. Bewley
Journal: British Journal of Dermatology (2012)

Background Systematic studies of delusional infestation (DI), also known as delusional parasitosis, are scarce. They lack either dermatological or psychiatric detail. Little is known about the specimens that patients provide to prove their infestation. There is no study on the current presentation of DI in Europe. Objectives To determine the number of true infestations, to assess with which pathogens patients believe themselves to be infested, and to gather details about the frequency and nature of the specimens and the containers used to store them, based on European study centres. Methods Retrospective study of consecutive cases with suspected DI from six centres (Dermatology, Psychiatry, Tropical Medicine) in four European countries (U.K., Germany, Italy, France). Results In total, 148 consecutive cases of suspected DI were included, i.e. the largest cohort reported. None of the patients had evidence of a genuine infestation, as shown by examinations by dermatologists and/or infectious disease specialists. Only 35% believed themselves to be infested by parasites; the majority reported a large number of other living or inanimate (17%) pathogens. Seventy-one patients (48%) presented with what they believed was proof of their infestation. These specimens were mostly skin particles or hair, and rarely insects (only very few of which were human pathogenic or anthropophilic, and none of these could be correlated with the clinical presentation), and only 4% were stored in matchboxes (three of 71). Conclusions This first multicentre study of DI in Europe confirms that the term 'delusional infestation' better reflects current and future variations of this entity than 'delusional parasitosis'. The presentation of proofs of infestation, commonly referred to as 'the matchbox sign', is typical but not obligatory in DI and might better be called 'the specimen sign'.
Subacute Imbalance in a Renal Transplant Patient
Authors: Lawrence S. Honig
Journal: JAMA Neurology (2015)

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 Neurology 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 Neurology journal
Persistence of Barbiturates
Authors: G. de M. Rudolf
Journal: BMJ (1963)

BmDIC ¶sHand a small outbreak was recorded in Bristol in 1961 2 A week ago two cases were seen in Bristol, and within the last ten days at least 20 cases have occurred in a small area of Buckinghamshire.A very similar outbreak has occurred in Swindon involving about the same numbers.Recent observations suggest that some patients in these outbreaks may only suffer from mouth ulcers, and this fact and the mildness of the condition may not cause it to be recognized immediately.It seems, however, that the disease may well be occurring in many different parts of the country, and it would be of interest to hear of further outbreaks that have occurred.-Weare, etc.,
Abstract 4286: Predictors of Surgical-like Results With Alcohol Septal Ablation for Obstructive Hypertrophic Cardiomyopathy
Authors: Paul Sorajja, Josepha Binder, Steve R Ommen, Rick A Nishimura, Charanjit S Rihal, John F Bresnahan, David R Holmes
Journal: Circulation (2009)

Background. Alcohol ablation has emerged as a therapy for patients with obstructive hypertrophic cardiomyopathy. However, questions remain about optimal selection criteria for the procedure. Method...
Severe respiratory illness caused by a novel coronavirus, in a patient transferred to the United Kingdom from the Middle East, September 2012
Authors: A Bermingham, M A Chand, C S Brown, E Aarons, C Tong, C Langrish, K Hoschler, K Brown, M Galiano, R Myers, R  G Pebody, H K Green, N L Boddington, R Gopal, N Price, W Newsholme, C Drosten, R A Fouchier, M Zambon
Journal: Eurosurveillance (2012)

Coronaviruses have the potential to cause severe transmissible human disease, as demonstrated by the severe acute respiratory syndrome (SARS) outbreak of 2003. We describe here the clinical and virological features of a novel coronavirus infection causing severe respiratory illness in a patient transferred to London, United Kingdom, from the Gulf region of the Middle East.
Abstract 6277: Predictive Value of Estimated Glomerular Filtration Rate for Cardiovascular Events: The Treating to New Targets Study
Authors: James Shepherd, Chuan-Chuan Wun, Daniel J Wilson, Andrea L Zuckerman
Journal: Circulation (2008)

We previously demonstrated a dose-dependent improvement in renal function and reduction in cardiovascular risk in TNT with intensive lipid lowering with atorvastatin (ATV) 80 mg vs 10 mg. This post hoc analysis examines the relationship between the observed improvement in estimated glomerular filtration rate (eGFR) and reduction of major cardiovascular events (MCVE). After 8 weeks open-label therapy with ATV 10 mg, 10,001 patients with CHD were randomized to double-blind therapy with either ATV 10 or 80 mg. Patients were followed for a median of 4.9 years for the occurrence of MCVEs (CHD death, nonfatal MI, and stroke). The relationship between change from baseline eGFR (using the MDRD equation) at the final visit prior to a MCVE and the risk of MCVE was assessed using a Cox proportional hazards model adjusting for baseline eGFR and other baseline characteristics. Of 9656 patients with complete renal data, 156 had a MCVE before follow-up eGFR assessment and were excluded. In the remaining 9500 patients, mean baseline eGFR was 65.3 mL/min/1.73 m 2 and mean change from baseline was 4.3 mL/min/1.73 m 2 . This represented a reduction in the risk of MCVE of 2.7% per mL increase in eGFR (HR 0.973, 95% CI 0.967– 0.980, P &lt;0.0001). This association remained significant in patients with eGFR &lt;60 and those with eGFR ≥60 mL/min/1.73 m 2 at baseline, with no significant interaction between eGFR change and baseline renal status ( P =0.98). A 5 mL/min on-treatment improvement in eGFR was associated with a 12.6% reduction in MCVE, while a 5 mL/min reduction was associated with a 14.4% increase in MCVE. Mean change from baseline eGFR was 3.5 mL/min/1.73 m 2 with ATV 10 mg and 5.2 mL/min/1.73 m 2 with ATV 80 mg, representing significant 9.3% and 12.4% reductions in risk, respectively. Analysis of interaction between treatment and eGFR change for prediction of MCVE demonstrated a stronger association between eGFR change and MCVE in the ATV 80 mg treatment group ( P =0.011). Improvement in eGFR was highly associated with a reduction in MCVE, irrespective of baseline renal function. This relationship was dose dependent. Improvement in eGFR may be a biomarker for the response to atorvastatin, and for the stabilization of atherosclerotic cardiovascular disease.
Targeted Drug Delivery and Penetration Into Solid Tumors
Authors: Angelo Corti, Fabio Pastorino, Flavio Curnis, Wadih Arap, Mirco Ponzoni, Renata Pasqualini
Journal: Medicinal Research Reviews (2011)

Abstract Delivery and penetration of chemotherapeutic drugs into tumors are limited by a number of factors related to abnormal vasculature and altered stroma composition in neoplastic tissues. Coupling of chemotherapeutic drugs with tumor vasculature‐homing peptides or administration of drugs in combination with biological agents that affect the integrity of the endothelial lining of tumor vasculature is an appealing strategy to improve drug delivery to tumor cells. Promising approaches to achieve this goal are based on the use of Asn‐Gly‐Arg (NGR)‐containing peptides as ligands for drug delivery and of NGR‐TNF, a peptide‐tumor necrosis factor‐α fusion protein that selectively alters drug penetration barriers and that is currently tested in a randomized Phase III trial in patients with malignant pleural mesothelioma.
Is morphoea caused by Borrelia burgdorferi? A review
Authors: B. Weide, T. Walz, C. Garbe
Journal: British Journal of Dermatology (2000)

Journal Article Is morphoea caused by Borrelia burgdorferi? A review Get access B. Weide, B. Weide Department of Dermatology, Eberhard‐Karls‐University of Tuebingen, Liebermeisterstrasse 25, D‐72076 Tuebingen, Germany Search for other works by this author on: Oxford Academic Google Scholar T. Walz, T. Walz Department of Dermatology, Eberhard‐Karls‐University of Tuebingen, Liebermeisterstrasse 25, D‐72076 Tuebingen, Germany Search for other works by this author on: Oxford Academic Google Scholar C. Garbe C. Garbe Department of Dermatology, Eberhard‐Karls‐University of Tuebingen, Liebermeisterstrasse 25, D‐72076 Tuebingen, Germany Professor Claus Garbe. E‐mail: claus.garbe@med.uni‐tuebingen.de Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 142, Issue 4, 1 April 2000, Pages 636–644, https://doi.org/10.1046/j.1365-2133.2000.03407.x Published: 01 April 2000
Coping with the threat of AIDS: the role of social support
Authors: J Leserman, D O Perkins, D L Evans
Journal: American Journal of Psychiatry (1992)

There has been relatively little clinical research on how asymptomatic HIV-positive men cope with the threat of AIDS. The present study was intended to 1) describe the coping strategies used by asymptomatic HIV-positive homosexual men, 2) examine the relationship of coping to dysphoria and self-esteem, and 3) explore how race and social support correlate with coping.The study group was composed of 52 asymptomatic HIV-positive homosexual men. A group of 53 HIV-negative homosexual men was used for descriptive comparison. Data on coping, social support, dysphoria, and self-esteem came from self-report measures; depression was also determined by interviews with the Hamilton Rating Scale for Depression.The authors found that 1) subjects primarily coped with the threat of AIDS by adopting a fighting spirit, reframing stress to maximize personal growth, planning a course of action, and seeking social support; 2) more helpless coping, less fighting spirit, and less personal growth were related to dysphoria and poor self-esteem, whereas denial was related to more depression, anger, and helpless coping; 3) satisfaction with one's social support networks and participation in the AIDS community were related to more healthy coping strategies (e.g., fighting spirit, personal growth); and 4) black subjects expressed more denial, more helplessness, and less social support.These results suggest that health professionals should encourage more adaptive coping strategies, help patients use existing sources of positive social support, and assist patients, particularly black patients, in finding community support networks.