tbuckley/cabot-search huggingface dataset:
Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12
Authors: Gladys Montenegro, Adriana P. Rebelo, James Connell, Rachel Allison, Carla Babalini, Michela D’Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene Strickland, Michael A. Gonzalez, Lisa Baumbach-Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M. Vance, Mark T. Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A. Pericak-Vance, Ludger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner
Journal: Journal of Clinical Investigation (2012)

Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations in 3 genes encoding proteins that work together to shape the ER into sheets and tubules - receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and spastin (SPAST) - have been found to underlie many cases of HSP in Northern Europe and North America. Applying Sanger and exome sequencing, we have now identified 3 mutations in reticulon 2 (RTN2), which encodes a member of the reticulon family of prototypic ER-shaping proteins, in families with spastic paraplegia 12 (SPG12). These autosomal dominant mutations included a complete deletion of RTN2 and a frameshift mutation predicted to produce a highly truncated protein. Wild-type reticulon 2, but not the truncated protein potentially encoded by the frameshift allele, localized to the ER. RTN2 interacted with spastin, and this interaction required a hydrophobic region in spastin that is involved in ER localization and that is predicted to form a curvature-inducing/sensing hairpin loop domain. Our results directly implicate a reticulon protein in axonopathy, show that this protein participates in a network of interactions among HSP proteins involved in ER shaping, and further support the hypothesis that abnormal ER morphogenesis is a pathogenic mechanism in HSP.
Concern raised about performance enhancing drugs in the US
Authors: D. Josefson
Journal: BMJ (1998)

<h3></h3> Gastroesophageal reflux disease (GERD) commonly causes regurgitation in infancy. The prognosis of GERD in infants is excellent as symptoms of vomiting and irritability resolve in the majority of patients by 1 year of age. Few longitudinal studies have evaluated the incidence of symptoms of GERD in children who had GERD in infancy. The aim of this study is to determine whether GERD in infancy is associated with increased symptoms of GERD in childhood. Parents of 50 children (child9s age at the time of survey 8.3 ± 1.7 yr, mean ± SD, 54% male) who underwent 24-hr esophageal pH monitoring in infancy were asked about current symptoms of GERD by telephone survey. The incidence of symptoms in children who had an abnormal pH study in infancy (Johnson-DeMeester score) were compared to those with normal pH study results. We conclude that children who had GERD with abnormal esophageal pH monitoring in infancy are more likely to experience heartburn and excessive belching in childhood. Abnormal esophageal pH study results in infancy may be prognostic of an increased risk of symptoms of GERD later in childhood.
Dysphagia Localized to the Hypopharynx and Upper Esophagus: A Cineradiographic and Manometric Study.
Authors: C. I. Siegel
Journal: Annals of Internal Medicine (1963)

s1 April 1963Dysphagia Localized to the Hypopharynx and Upper Esophagus: A Cineradiographic and Manometric Study.C. I. Siegel, M.D. (Associate), J. C. Harvey, M.D., F.A.C.P., P. Hookman, M.D., A. I. Mendeloff, M.D., T. R. Hendrix, M.D., D. Moore, M.D.C. I. Siegel, M.D. (Associate)Search for more papers by this author, J. C. Harvey, M.D., F.A.C.P.Search for more papers by this author, P. Hookman, M.D.Search for more papers by this author, A. I. Mendeloff, M.D.Search for more papers by this author, T. R. Hendrix, M.D.Search for more papers by this author, D. Moore, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-58-4-725_2 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDysphagia localized to the hypopharynx and upper esophagus may result from various local and systemic diseases. Currently available cineradiographic and manometric techniques permit the delineation of the normal mechanism of swallowing and the deviations from normal in various disease states.Normally, relaxation of the cricopharyngeus (upper esophageal sphincter) precedes hypopharyngeal peristaltic contraction. In 2 patients with dysphagia in association with the posterior inferior cerebellar artery syndrome, relaxation of the cricopharyngeus was delayed, thus leading to pharyngeal contraction against an unrelaxed sphincter.In diseases involving striated muscle, including myotonia dystropica (12 patients), sarcoid (2 patients), and derma tomyositis (4 patients), abnormalities... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByBeeinflussung des Schluckvorganges durch Erkrankungen des Nervensystems, willkürliches Training und psychische Fehlregulationen 1 April 1963Volume 58, Issue 4Page: 725-725KeywordsArteriesDysphagiaEsophagusMusclesSwallowingSystemic diseases Issue Published: 1 April 1963 PDF DownloadLoading ...
Development of Cardiovascular Risk Factors From Ages 8 to 18 in Project HeartBeat!
Authors: Darwin R. Labarthe, Milton Z. Nichaman, Ronald B. Harrist, Jo Anne Grunbaum, Shifan Dai
Journal: Circulation (1997)

Background Project HeartBeat! is a longitudinal study of the development of cardiovascular risk factors as growth processes. Patterns of serial change, or trajectories, from ages 8 to 18 years for plasma total cholesterol concentration (TC) and percent body fat illustrate the design and synthetic cohort approach of the study. Methods and Results Six hundred seventy-eight children (49.1% female, 20.1% black) entered the study at ages 8, 11, and 14 years and were followed up with examinations every 4 months for ≤4 years. Multilevel analysis demonstrated trajectories for population mean values of TC and percent body fat in sex-specific synthetic cohorts from ages 8 to 18 years. Polyphasic patterns of change in TC were confirmed, with notable sex differences in age patterns and with minimum mean values of TC of 3.85 mmol/L for females and 3.59 for males. As illustrated by data for males, the approximate 75th percentile values of mean TC ranged from 4.78 mmol/L at its early peak to 4.06 at its late-teen nadir. Percent body fat exhibited a trajectory closely parallel with that for TC only for males and appeared to be unrelated for females. Conclusions The polyphasic trajectory for TC from ages 8 to 18 years differs between females and males, indicates marked age variation in 75th percentile values and, in males only, closely parallels the trajectory for percent body fat. These and other results indicate the value of both follow-up every 4 months across age intervals to detect rapid risk factor change and the synthetic cohort approach for gaining new insights into the dynamics and possible determinants of this change from ages 8 to 18 years.
Dramatic efficacy of brentuximab vedotin in two patients with epidermotropic cutaneous T-cell lymphomas after treatment failure despite variable CD30 expression
Authors: C. Saintes, M. Saint-Jean, J.J. Renaut, B. Dréno, G. Quéreux
Journal: British Journal of Dermatology (2014)

Journal Article Dramatic efficacy of brentuximab vedotin in two patients with epidermotropic cutaneous T‐cell lymphomas after treatment failure despite variable CD30 expression Get access C. Saintes, C. Saintes Skin Cancer Unit, Nantes University Hospital INSERM 892 1 Place Alexis Ricordeau 44093 Nantes Cedex France Search for other works by this author on: Oxford Academic Google Scholar M. Saint‐Jean, M. Saint‐Jean Skin Cancer Unit, Nantes University Hospital INSERM 892 1 Place Alexis Ricordeau 44093 Nantes Cedex France Search for other works by this author on: Oxford Academic Google Scholar J.J. Renaut, J.J. Renaut Histopathology Institute 55 Rue de l'Amiral du Chaffault 44100 Nantes France Search for other works by this author on: Oxford Academic Google Scholar B. Dréno, B. Dréno Skin Cancer Unit, Nantes University Hospital INSERM 892 1 Place Alexis Ricordeau 44093 Nantes Cedex France Correspondence: Brigitte Dréno. E‐mail: brigitte.dreno@wanadoo.fr Search for other works by this author on: Oxford Academic Google Scholar G. Quéreux G. Quéreux Skin Cancer Unit, Nantes University Hospital INSERM 892 1 Place Alexis Ricordeau 44093 Nantes Cedex France Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 172, Issue 3, 1 March 2015, Pages 819–821, https://doi.org/10.1111/bjd.13337 Published: 01 March 2015
Abstract 4658: Use of a defined oleander extract by advanced cancer patients: Case reports on toxicity and tumor-related outcomes
Authors: Keith I. Block, Charlotte Gyllenhaal, Robert A. Newman
Journal: Cancer Research (2014)

Abstract The present study reports cases of advanced cancer patient taking an extract of Nerium oleander now in Phase 1 clinical trials in cancer patients. A phytochemical constituent of the extract, oleandrin, has multiple anticancer activities including inhibition of NF-kappaB and induction of apoptosis. We present case reports of 9 metastatic cancer patients who received the extract on personal use exemptions. Five of the patients also received full integrative programs at an integrative medicine center. Cases included 4 colon cancer patients, 3 pancreatic cancer patients (1 neuroendocrine and 2 adenocarcinoma), 1 renal cell carcinoma and 1 lung cancer patient. For the patients at the integrative center, all of whom took the extract during periods when they were receiving chemotherapy, toxicity grading of chemotherapy side effects was performed. We analyzed the case records for potential effects of the extract on tumor regression/stability in the absence of chemotherapy, survival time, use concurrent with chemotherapy and toxicity. The renal cell patient experienced tumor regression for 12 months with the extract alone; the 3 pancreatic cancer patients and a colon cancer patient experienced disease stabilization. Survival times were extended for all patients with survival times ranging from 32 months to 11 years for these patients with metastatic disease. Chemotherapy was well tolerated by colon cancer patients with only grade 1-2 toxicity during as many as 70 cycles of chemotherapy. Mild toxicities thought to be related to the extract included lightheadedness and mild tingling and burning of the mouth with use of the sublingual preparation. Severe toxicities including one myocardial infarction and one deep-vein thrombosis were observed but not suspected to be related to the extract. Good clinical outcomes and low toxicity were thus observed for the extract in these patients. Citation Format: Keith I. Block, Charlotte Gyllenhaal, Robert A. Newman. Use of a defined oleander extract by advanced cancer patients: Case reports on toxicity and tumor-related outcomes. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 4658. doi:10.1158/1538-7445.AM2014-4658
[137] RESPONSE TO PEGYLATED INTERFERON-RIBAVIRIN IN PATIENTS WITH RECURRENT HEPATITIS C IN PATIENTS UNDERGOING LIVER TRANSPLANTATION FOR MIXED (ALCOHOL-HCV) CIRRHOSIS
Authors: V. Aguilera, M. Berenguer, A. Palau, A. Rubin, M. Aguas, S. Benlloch, M. Prieto
Journal: Journal of Hepatology (2007)
THE PHYSICIAN'S CONNECTION WITH PROPRIETARY REMEDIES.
Authors: H. W. WILEY
Journal: JAMA (1907)

An important ethical principle attaches to the physician's relations to proprietary remedies. These remedies may be of two kinds. First, remedies whose composition is disclosed and which are true to the formulas or names by which they are known. Such remedies become proprietary articles by reason of invention, discovery or purchase. There is another kind of proprietary remedy which becomes so by reason of secrecy. As a rule these latter kind do not contain any new principle or substance, but make use of well-known remedial agents, simple or mixed in a more or less haphazard way, and to which some fancy or trade name is given. It is easy to see that a proprietary remedy may in itself as a remedial agent be good, bad or indifferent. There is no reason to doubt the fact that the activity of any drug or remedy will be as great when administered in
Interferon alpha 2b as Medical Selection for Nephrectomy in Patients with Synchronous Metastatic Renal Cell Carcinoma: A Consecutive Study
Authors: Axel Bex, Martÿn Kerst, Henk Mallo, Wim Meinhardt, Simon Horenblas, Gÿsbert C. de Gast
Journal: European Urology (2005)
Homozygote mutation of C161 → T polymorphism in the exon 6 of peroxisome proliferator-activated receptor γ3 gene is associated with onset of premature myocardial infarction
Authors: Ting-Hsing Chao, Yi-Heng Li, Jyh-Hong Chen, Hua-Lin Wu, Guey-Yueh Shi
Journal: Journal of the American College of Cardiology (2003)
Spleen stiffness measurement can predict clinical complications in compensated HCV-related cirrhosis: A prospective study
Authors: Antonio Colecchia, Agostino Colli, Giovanni Casazza, Daniele Mandolesi, Ramona Schiumerini, Letizia Bacchi Reggiani, Giovanni Marasco, Martina Taddia, Andrea Lisotti, Giuseppe Mazzella, Anna Rita Di Biase, Rita Golfieri, Massimo Pinzani, Davide Festi
Journal: Journal of Hepatology (2014)
Hyperventilation Thallium-201 Myocardial Imaging for the Diagnosis of Vasospastic Angina
Authors: TAKUROH IMAMURA, YOSHITATSU NAGATOMO, SUSUMU NAKAGAWA, YASUSHI KOIWAYA, HIROAKI HOSHI, KATSUSHI WATANABE, KENJIRO TANAKA
Journal: Clinical Nuclear Medicine (1987)

In seven patients with vasospastic angina, a transient myocardial perfusion defect was demonstrated on TI- 201 myocardial imaging after hyperventilation (HV). The development of spasm on one or more coronary arteries after HV was confirmed by later coronary arteriographic studies, with the perfusing area of the coronary arteries being compatible with the scintigraphic location of the defect. Repeated 12-lead electrocardiograms failed to establish the diagnosis in one of the seven patients. It is concluded that HV TI-201 myocardial imaging provides invaluable information in establishing a diagnosis of vasospastic angina.
Self-Help — Intensive Care — Hip, Hip, Hoorah!
Authors: John Lister
Journal: New England Journal of Medicine (1967)

ONE of the unfortunate consequences of the development of a comprehensive welfare state is that responsibility in so many fields passes from the individual to the state, with a consequent discouragement of voluntary effort. Nevertheless, the wish to support a good cause is a healthy natural instinct, and it is gratifying to note a resurgence of voluntary effort within the National Health Service. Most hospitals now have their leagues of friends, which raise money to provide amenities for the patients that cannot be provided from exchequer funds. More ambitious schemes for self-help are now developing in many areas. These have . . .
The research mission in myeloma
Authors: P G Richardson, J San-Miguel, S Lonial, D Reece, A Jakubowiak, M Hussein, S Jagannath, C S Mitsiades, N Raje, J Kaufman, D Avigan, I Ghobrial, R L Schlossman, N Munshi, W Dalton, K C Anderson
Journal: Leukemia (2008)
Pictorial fetal movement charts in a multiracial antenatal clinic.
Authors: M. I. Shafi, M. S. Dover, C. A. Dyer, P. Byrne, G. Constantine, D. M. Luesley
Journal: BMJ (1989)

Presentation d'un modele de carte pour l'enregistrement par les femmes enceintes des mouvements du fœtus qu'elles ressentent. Cette methode simple est comprehensible pour des femmes de pays et de races differentes
&lt;emph type="ital"&gt;Still Life: Tea Set&lt;/emph&gt;
Authors: Janet M. Torpy
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 Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
Inoculation of Human Volunteers with Strains of Coe Virus Isolated in Britain
Authors: R. Parsons, M. L. Bynoe, M. S. Pereira, D. A. J. Tyrrell
Journal: BMJ (1960)

MEDICAL JOURNALhypokalaemia with which administration of this drug may be associated (Slater and Nabarro, 1958).However, hydrochlorothiazide has little inhibitory activity on carbonic anhydrase (de Stevens et al., 1958) and yet its diuretic action and the tendency to cause potassium depletion are similar (Havard and Fenton, 1959; Platts, 1959).Hydroflumethiazide also causes less bicarbonate and more chloride excretion (Edmonds and Wilson, 1959), but the tendency to produce hypokalaemia is the same (Blagg, 1959).We have found that benzthiazide causes a loss of chloride disproportionate to that of sodium.Bicarbonate excretion was unaltered, but potassium loss in the urine occurred just as readily.In our patients with congestive cardiac failure the mean potassium excretion after benzthiazide was 54 mEq/day, compared with 59 mEq /day after chlorothiazide.Apart from this we encountered no toxic effects.The similar chemical structure of benzthiazide suggests that this drug may not be free from the occasional hazards of chloro- thiazide (Nordqvist et al., 1959), though the smaller dosage may be advantageous. SummaryBenzthiazide is a new oral diuretic chemically related to chlorothiazide.The action is similar to that of chlorothiazide, and a comparison of the two drugs suggests that 100 mg. of benzthiazide is approximately equivalent to 1 g. of chlorothiazide.The action of the two drugs differed in two ways; after benzthiazide the urinary loss of chloride exceeded that of sodium, and bicarbonate excretion was not increased.In the treatment of oedema there was no less tendency to cause hypokalaemia.
Chronic Myelocytic (Multipotent-Stem-Cell) Leukemia
Authors: John H. Kersey
Journal: New England Journal of Medicine (1983)

Chronic myelocytic leukemia is a disease in which biomedical research efforts have paid substantial dividends in recent years. Both laboratory and clinical investigators have found that this disease, first described as "splenic leukemia" over 100 years ago, contains some important lessons for the astute observer. An early, notable example of the value of careful laboratory observation was the demonstration of the Philadelphia (Ph1) chromosome in patients with this disease.1 subsequent cytogenetic analyses using banding techniques demonstrated that in most cases of chronic myelocytic leukemia, the Ph1 chromosome arises from a balanced translocation between the long arms of chromosomes 9 . . .
Dissolution of arterial platelet thrombi in vivo with a bifunctional platelet GPIIIa49-66 ligand which specifically targets the platelet thrombus
Authors: Wei Zhang, Yong-Sheng Li, Michael A. Nardi, Suying Dang, Jing Yang, Yong Ji, Zongdong Li, Simon Karpatkin, Thomas Wisniewski
Journal: Blood (2010)

Patients with HIV-1 immune-related thrombocytopenia have a unique antibody (Ab) against integrin GPIIIa49-66 capable of inducing oxidative platelet fragmentation via Ab activation of platelet nicotinamide adenine dinucleotide phosphate oxidase and 12-lipoxygenase releasing reactive oxygen species. Using a phage display single-chain antibody (scFv) library, we developed a novel human monoclonal scFv Ab against GPIIIa49-66 (named A11) capable of inducing fragmentation of activated platelets. In this study, we investigated the in vivo use of A11. We show that A11 does not induce significant thrombocytopenia or inhibit platelet function. A11 can prevent the cessation of carotid artery flow produced by induced artery injury and dissolve the induced thrombus 2 hours after cessation of blood flow. In addition, A11 can prevent, as well as ameliorate, murine middle cerebral artery stroke, without thrombocytopenia or brain hemorrhage. To further optimize the antithrombotic activity of A11, we produced a bifunctional A11-plasminogen first kringle agent (SLK), which homes to newly deposited fibrin strands within and surrounding the platelet thrombus, reducing effects on nonactivated circulating platelets. Indeed, SLK is able to completely reopen occluded carotid vessels 4 hours after cessation of blood flow, whereas A11 had no effect at 4 hours. Thus, a new antithrombotic agent was developed for platelet thrombus clearance.
The Relationship Between Methodological Quality and Conclusions in Reviews of Spinal Manipulation
Authors: Willem J. J. Assendelft
Journal: JAMA (1995)

To study the relationship between the methodological quality and other characteristics of reviews of spinal manipulation for low back pain on the one hand and the reviewers' conclusions on the effectiveness of manipulation on the other hand.Reviews identified by MEDLINE search, citation tracking, library search, and correspondence with experts.English- or Dutch-language reviews published up to 1993 dealing with spinal manipulation for low back pain that include at least two randomized clinical trials (RCTs).Methodological quality was assessed using a standardized criteria list applied independently by two assessors (range, 0% to 100%). Other extracted characteristics were the comprehensiveness of the search, selective citation of studies, language, inclusion of non-RCTs, type of publication, reviewers' professional backgrounds, and publication in a spinal manipulation journal or book. The reviewers' conclusions were classified as negative, neutral, or positive.A total of 51 reviews were assessed, 17 of which were neutral and 34 positive. The methodological quality was low, with a median score of 23%. Nine of the 10 methodologically best reviews were positive. Other factors associated with a positive reviewers' conclusion were review of spinal manipulation only, inclusion of a spinal manipulator in the review team, and a comprehensive literature search.The majority of the reviews concluded that spinal manipulation is an effective treatment for low back pain. Although, in particular, the reviews with a relatively high methodological quality had a positive conclusion, strong conclusions were precluded by the overall low quality of the reviews. More empirical research on the review methods applied to other therapies in other professional fields is needed to further explore our findings about the factors related to a positive reviewers' conclusion.