tbuckley/cabot-search huggingface dataset:
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
Authors: S KAJIHARA
Journal: Hepatology (1995)

Glycogen storage disease (GSD) type 1a (von Gierke disease) is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). We have identified a novel mutation in the G6Pase gene of a individual with GSD type 1a. The cDNA from the patient's liver revealed a 91-nt deletion in exon 5. The genomic DNA from the patient's white blood cells revealed no deletion or mutation at the splicing junction of intron 4 and exon 5. The 3' splicing occurred 91 bp from the 5' site of exon 5 (at position 732 in the coding region), causing a substitution of a single nucleotide (G to T) at position 727 in the coding region. Further confirmation of the missplicing was obtained by transient expression of allelic minigene constructs into animal cells. Another eight unrelated families of nine Japanese patients were all found to have this mutation. This mutation is a new type of splicing mutation in the G6Pase gene, and 91% of patients and carriers suffering from GSD1a in Japan are detectable with this splicing mutation.
Detection of Bladder Cancer Using a Proteomic Assay—Reply
Authors: H. Barton Grossman
Journal: JAMA (2005)

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
Abstract 1325: Selective Kinase Inhibition Attenuates Rodent Pulmonary Arterial Hypertension (PAH)
Authors: Liliana Moreno, Mardi Gomberg-Maitland, Michael L Maitland, Sherry Wanderling, Saad Sammani, Keith Collins, Georgeanne Lammertin, Aliya Husain, Roberto M Lang, Mark J Ratain, Joe G Garcia
Journal: Circulation (2006)
Specific inhibitors of tyrosine-specific protein kinases: properties of 4-hydroxycinnamamide derivatives in vitro.
Authors: T Shiraishi, M K Owada, M Tatsuka, T Yamashita, K Watanabe, T Kakunaga
Journal: Cancer Research (1989)

Inhibition by seven synthetic 4-hydroxycinnamamide derivatives, ST 271, ST 280, ST 458, ST 494, ST 633, ST 638, and ST 642, of tyrosine-specific protein kinases (tyrosine kinase) of oncogene or proto-oncogene products (p130gag-v-fps, p70gag-actin-v-fgr, pp60v-src, pp60c-src) and epidermal growth factor (EGF) receptor kinase were investigated. ST 638 (alpha-cyano-3-ethoxy-4-hydroxy-5-phenylthiomethylcinnamamide) strongly inhibited more of the tyrosine kinases than any of the other compounds. The susceptibilities of these tyrosine kinases to ST 638 increased in the following order: EGF receptor greater than p70gag-actin-v-fgr greater than pp60c-src greater than p130gag-v-fps, pp60v-src, with 50% inhibitory concentration values of 1.1, 4.2, 18, 70, and 87 microM, respectively. The phosphorylation of the tyrosine residues in particulate fractions from RR1022 cells expressing pp60v-src was inhibited by ST 638 in a dose-dependent way, while it had a negligible effect on the phosphorylations of threonine and serine residues. Kinetic analysis showed that ST 638 competitively inhibited the phosphorylation of an exogenous substrate by the EGF receptor kinase with a Ki of 2.1 microM. ST 638 noncompetitively inhibited autophosphorylation by EGF receptor kinase. These results indicate that ST 638 is a potent and specific inhibitor of tyrosine kinases in vitro, and that its inhibitory activity is caused by competing with the substrate protein for the tyrosine kinase binding site.
Professor reprimanded for failing to act over fraud
Authors: C. Dyer
Journal: BMJ (2001)

Timothy Peters, professor of clinical biochemistry department at King's College School of Medicine and Dentistry, London, was found guilty of serious professional misconduct last week. He was given a severe reprimand by the General Medical Council for failing to take action over falsified research published by a junior doctor he was supervising.

Professor Peters was the research supervisor of Dr Anjan Banerjee, when he was a junior doctor at King's College Hospital between 1988 and 1991. Dr Banerjee, aged 41, was suspended from practice by the GMC for 12 months last December for publishing fraudulent research (BMJ 2000;321:1429).

When the GMC suspended him, he was already suspended from his job as consultant surgeon at …
Abstract 12320: Assessment of Post-Procedural Aortic Regurgitation After Transcatheter Aortic Valve Replacement During the Procedure: An Intraprocedural Transesophageal Echocardiography Study
Authors: Hirotsugu Mihara, Kentaro Shibayama, Hasan Jilaihawi, Yuji Itabashi, Javier Berdejo, Hiroto Utsunomiya, Robert J Siegel, Raj R Makkar, Takahiro Shiota
Journal: Circulation (2014)

Introduction: The assessment of post-procedual aortic regurgitation (PAR) after transcatheter aortic valve replacement (TAVR) has not been validated. The purpose of this study was (1) to investigate the value of holodiastolic flow reversal (HDFR) in the descending aorta in patients with PAR after TAVR and (2) to determine which color Doppler parameters are useful for PAR grading using the intraprocedural transesophageal echocardiography (iTEE). Hypothesis: We hypothesized that HDFR in the descending aorta and any color Doppler parameters can delineate significant PAR after TAVR. Methods: Three hundred-eighty patients with severe aortic stenosis underwent TAVR with the Edwards SAPIEN valve with 131 pulsed-wave Doppler tracings from the descending aorta had assessed by iTEE. PAR was evaluated using 2D color Doppler by the cross-sectional area of the vena contracta (VCA) at the aortic annular plane, and by the longitudinal jet extent (mosaic signals, Figure A) compared to the location of the tip of the anterior mitral leaflet (AML). Significant PAR was defined as VCA of ≥10 mm2, corresponding to greater than a moderate grade. Results: In patients with any grade of PAR, pulsed-wave Doppler tracing from the descending aorta, jet extent and VCA were obtained in 100%, 80%, and 74%, respectively. All patients with consistent HDFR had significant PAR. By multivariate analysis, a consistent HDFR and jet extent beyond the tip of AML were independent predictors of significant PAR. A consistent HDFR and jet extent beyond the tip of AML predicted significant PAR with specificity of 100% and 97%, respectively. In the other hand, patients with both negative HDFR and jet extent of less than halfway to the tip of AML had no significant PAR with a 97% specificity. Conclusions: The presence of HDFR with each cardiac cycle and jet extent beyond the tip of AML are indicative of significant PAR.
Daily chlorhexidine bathing and hospital-acquired infection.
Authors: Martin Wolkewitz, Stéphan Juergen Harbarth, Jan Beyersmann
Journal: New England Journal of Medicine (2013)

To the Editor: The benefit of chlorhexidine bathing reported by Climo and colleagues (Feb. 7 issue)1 appears to be a reduction in the rate of bloodstream infections due to coagulase-negative staphylococci. As the authors note, the National Healthcare Safety Network (NHSN) definition of a central-catheter–associated bloodstream infection requires primarily a positive blood culture in patients with a central venous catheter in place within 48 hours before detection. As commensal organisms of the skin, coagulase-negative staphylococci are a common cause of false positive blood cultures. Is it possible that the reduction in hospital-acquired bloodstream infection reported in the study (Table 3 of the article) was the consequence of a chlorhexidine-precipitated decrease in skin colonization with coagulase-negative staphylococci (and candida) and thus a reduction in the number of false positive blood cultures in the patients bathed with the antimicrobial washcloths? The lack of a reduction in bloodstream infections due to Staphylococcus aureus or gram-negative bacilli (Table 3 of the article), neither of which are traditional skin colonizers, supports that possibility.
Antibiotics and Coronary Heart Disease—Reply
Authors: Michael W. Dunne, Rebecca J. Benner, Christopher M. O'Connor, Marc A. Pfeffer, Joseph B. Muhlestein, Louis Yao, Sandeep Gupta, Marian R. Fisher, Thomas D. Cook
Journal: JAMA (2004)

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
Vitamin D increases anti-microbial activity in human airway epithelial cells
Authors: Christian Herr, Julia Niederstraßer, Robert Bals
Journal: European Respiratory Journal (2014)

Rational: Vitamin D modulates the activity of various defense and immune cells. Vitamin D is metabolized to the circulating 25-hydroxy-Vitamin D (25-OH-D3), which is further hydroxylated to the biologically active 1-a,25-dihydroxy-Vitamin-D. Airway epithelial cells (AEC) are active and structural components of the innate immune system. The goal of this work is to show that airway epithelial cells respond to Vitamin D with less inflammation and increased bactericidal activity.

Methods: For the investigation of anti-inflammatory activity of Vitamin-D human AECs were cultured submersed and cytokines were measured in the supernatant by ELISA. Antimicrobial activity was determined by using the air-liquid-interface culture system. The cells were infected with live P.aeruginosa PAOI. The bacterial burden was determined by counting CFUs from apical washings on LB agar. Gene expression was quantified by qRT-PCR.

Results: Vitamin D treatment leads to a reduced secretion of IL8 and TNF-a from airway epithelial cells (AEC) after stimulation with heat inactivated P.aeruginosa . The expression of the anti-microbial peptide cathelicidin is increased by the treatment with 25-OH-D3 without bacterial stimulation. AECs are more bactericidal in the presence of 25-OH-D3 and secrete less IL8.

Conclusion: AECs produce less inflammatory cytokines in the presence of 25-OH-D3. 25-OH-D3 increases the transcription of the antimicrobial peptide cathelicidine without TLR stimulation. The antimicrobial activity of AECs against P.aeruginosa is increased and the secretion of IL8 is reduced. These results show that AECs are more anti-mcrobial in the presence of 25-OH-D3. These findings may be important for the treatment of cystic fibrosis.
Abstract 18066: Elevated Levels of Circulating MicroRNA-223, MicroRNA-127 and MicroRNA-146a are Associated with Risk of Near Future Cardiovascular Events in Asymptomatic Individuals
Authors: Anna P Pilbrow, Chris M Frampton, A M Richards, Richard W Troughton, Vicky A Cameron
Journal: Circulation (2014)

Background:  MicroRNAs (miRNAs) are small regulatory RNAs that are stable in plasma and may have utility as diagnostic markers in cardiovascular disease.   Aim:  This study investigated whether circulating miRNAs predict risk of incident cardiovascular events in the general population, by analyzing associations between plasma levels of 10 miRNAs and fatal/non-fatal cardiovascular events in asymptomatic individuals selected from a community based cohort.   Methods:  miRNA levels were measured in 71 individuals, 37 who had a cardiovascular event within 1 year (mean age=70 ±10 years, 65% male) and 34 matched controls without events (68 ±9 years, 59% male). miRNAs were selected from those previously associated with incident myocardial infarction (miR-126 -197 -223), unstable plaque (miR-127 -133a -145) or stable coronary artery disease (miR-142 -146a -323a -652). Associations between miRNAs, NT-proBNP, Framingham risk score and cardiovascular events were tested with Cox regression and log-rank tests.   Results:  All miRNAs except miR-323a were positively associated with cardiovascular events, independent of NT-proBNP and Framingham risk score, with miR-223 showing the strongest association (hazard ratio [95% confidence interval] upper vs lower tertile: miR-223 3.7 [1.6-8.7] p=0.002; miR-127 3.7 [1.6-8.5] p=0.003; miR-146a 3.5 [1.4-8.5] p=0.006; miR-142 3.6 [1.5-8.6] p=0.005; miR-197 3.4 [1.4-8.1] p=0.007; miR-145 1.9 [1.2-2.9] p=0.007; miR-652 2.9 [1.2-6.9] p=0.017; miR-133a 2.5 [1.1-5.5] p=0.027; miR-126 2.4 [1.0-5.4] p=0.041). All miRNAs were correlated with ≥1 other miRNA (Pearson correlation >0.6, p   Conclusions:  These data suggest that circulating miR-223, miR-127 and miR-146a may improve prediction of cardiovascular events in asymptomatic individuals.
A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
Authors: Patrick Vicart, Anne Caron, Pascale Guicheney, Zhenlin Li, Marie-Christine Prévost, Armelle Faure, Danielle Chateau, Françoise Chapon, Fernando Tomé, Jean-Marie Dupret, Denise Paulin, Michel Fardeau
Journal: Nature Genetics (1998)
The Etiology and Treatment of Diabetes Insipidus
Authors: T. B. Futcher
Journal: Annals of Internal Medicine (1931)

Article1 November 1931The Etiology and Treatment of Diabetes InsipidusT. B. FUTCHER, M.B., F.A.C.P.T. B. FUTCHER, M.B., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-5-5-566 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe chief purpose of this paper is to recount briefly the historical development of our knowledge concerning the etiology of diabetes insipidus up to the present time.According to Hirsch, the earliest account of a sweet taste of the urine in certain patients comes from India and is to be found in the Ayur Veda of Sustra. Although certain symptoms of diabetes were known to the Greek, Roman and Arabian physicians, it remained for Celsus, a Roman physician, in the latter half of the second century of the Christian era to describe its outstanding symptoms. Aretaeus, of Cappodocia, a Greek...Bibliography1 GREVING R: Anatomy and function of pituitary fibers connecting hypophysis and base of interbrain (Tr. supraopticohypophyseus), Deutsch. Ztschr. f. Nervenh., 1926, lxxxix, 179-195. Klin. Wchnschr., 1925, iv, 2181. CrossrefGoogle Scholar2 PINES IL: Innervation of pituitary, Ztschr. f. d. ges. Neurol. u. Psychiat., 1925, c, 123-138. Google Scholar3 BERKLEY HJ: The nerve elements of the pituitary gland, Johns Hopkins Hosp. Rep., 1895, iv, 117-127. Google Scholar4 DANDY WE: The nerve supply to the pituitary body, Am. Jr. Anat., 1913-14, xv, 333-343. CrossrefGoogle Scholar5 LEWISLEE DFC: The glandular elements in the posterior lobe of the human hypophysis, Johns Hopkins Hosp. Bull. 1927, xli, 241-277. Google Scholar6 CUSHING H: Neurohypophyseal mechanisms from clinical standpoint (Lister memorial lecture), Lancet, ccxix, 1930, 119-127, 175-184. CrossrefGoogle Scholar7 ZADEK E: Die Beziehungen zwischen Anatomie und Klinik des Diabetes insipidus, Ztschr. f. klin. Med., 1927, cv, 603-640. Google Scholar8 ELMERKEDZIERSKISCHEPS AWJM: Ein Fall von Diabetes insipidus verursacht durch eine Metastase eines Hypernephroms in Zwischenhirn. Beitrag zur Pathogenese des Diabetes insipidus, Wien. klin. Wchnschr., 1928, xli, 591-594. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Baltimore, Md.*From the Department of Internal Medicine, Johns Hopkins University.†Presented at the Baltimore meeting of the American College of Physicians, March 26, 1931. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byDiabetes insipidus und primäre Oligurie (Antidiabetes insipidus)Diabetes insipidus und Schwangerschaft 1 November 1931Volume 5, Issue 5Page: 566-573KeywordsEtiologyTasteUrine ePublished: 1 December 2008 Issue Published: 1 November 1931 PDF downloadLoading ...
Some Important Deficiencies in the Development, Validation, and Reporting of a Prediction Model—Reply
Authors: Sarah E. Tevis, Gregory D. Kennedy
Journal: JAMA Surgery (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 Surgery 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 Surgery journal
Carboplatin-paclitaxel alone or with bevacizumab in stage III-IV lung adenocarcinoma
Authors: Georgia Hardavella, Sofia Nikolakopoulou, Ioanna Kostara, George Hillas, Manos Alchanatis, Fotios Vlastos
Journal: European Respiratory Journal (2011)

Introduction:  Bevacizumab, a monoclonal antibody against vascular endothelial growth factor, has been shown to benefit lung adenocarcinoma patients when added to standard chemotherapy.   Aims and objectives:  To assess the clinical efficacy of Bevacizumab in lung adenocarcinoma stage III-IV when added to standard chemotherapy with carboplatin and paclitaxel in a pragmatic tertiary healthcare setting.   Materials and methods:  Two groups of consecutive patients with inoperable lung adenocarcinoma were investigated. Group A consisted of 20 patients that received initially carboplatin-paclitaxel with bevacizumab as first line chemotherapy and thereafter bevacizumab alone as maintenance therapy until progression. Group B consisted of 22 patients that received carboplatin-paclitaxel alone. Both groups had similar smoking history and comorbidities. Treatment options were assessed in terms of time to progression and side effects.   Results:  Our patient groups consisted of 13 females and 29 males with a mean age of 61.8 years (range 42-82). Twenty seven patients were in stage IV. All patients were ex smokers with equivalence in regard with the smoking habit, the disease stage and the application of radiotherapy between groups A and B. The side effects were similar to both groups of patients (p>0.10). Time to progression was strongly associated with the therapeutic regimens; Group B presented with longer time to progression than Group A (p=0.002).   Conclusions:  The addition of bevacizumab to carboplatin-paclitaxel in the treatment of consecutive patients with inoperable lung adenocarcinoma does not seem to confer a significant improvement in progression free survival and response rate.
Cyclooxygenase-2 and inducible nitric oxide synthase in omental arteries harvested from patients with severe liver diseases: immuno-localization and influence on vascular tone
Authors: Antonia Tabernero, Francis Schneider, Maria Assunta Potenza, Voahanginirina Fidi-soa Randriamboavonjy, Sylvette Chasserot, Philippe Wolf, Delia Mitolo-Chieppa, Jean-Claude Stoclet, Ramaroson Andriantsitohaina
Journal: Intensive Care Medicine (2003)
Effect of Relative Decrease in Blood Hemoglobin Concentrations on Postoperative Morbidity in Patients Who Undergo Major Gastrointestinal Surgery
Authors: Gaya Spolverato, Yuhree Kim, Aslam Ejaz, Steven M. Frank, Timothy M. Pawlik
Journal: JAMA Surgery (2015)

Delta hemoglobin (ΔHb), defined as the difference between the preoperative hemoglobin (Hb) level and the nadir Hb level during a patient's hospitalization, may be associated with adverse outcomes even if the absolute level of Hb remains greater than the transfusion threshold of 7 g/dL.To evaluate the association between ΔHb and morbidity in patients who undergo major gastrointestinal surgery as an independent factor or combined with the nadir Hb concentration.Retrospective review of prospectively collected data on patients who underwent pancreatic, hepatic, or colorectal resection from January 1, 2010, through April 30, 2014, at Johns Hopkins Hospital were included in the study. Data regarding the ΔHb concentration following surgery, nadir Hb level, and overall perioperative blood use were obtained and analyzed. Multivariable-adjusted logistic regression models were used to identify the preoperative factors associated with ΔHb and the effect of ΔHb on perioperative morbidity. The study and data analysis took place from January 22 through February 20, 2015.Major gastrointestinal surgery and packed red blood cell transfusion.Overall morbidity and ischemic-specific complications.Of the 4669 patients who underwent major gastrointestinal surgery, the median ΔHb level after surgery was 40%. Patients with multiple comorbidities (American Society of Anesthesiologists Physical Status score of 3-4: odds ratio [OR], 1.96; 95% CI, 1.30-2.97; P <.001; ≥3 coexisting medical conditions: OR, 1.62; 95% CI, 1.08-2.42; P = .001) and those who underwent pancreatic surgery (OR, 1.98; 95% CI, 1.18-3.33; P = .01) were at increased risk of having a ΔHb of 50% or greater. Compared with patients who had a ΔHb level of less than 50% and a nadir Hb level of 7 g/dL or greater, patients with a ΔHb level of 50% or greater whose nadir Hb level was less than 7 g/dL were at a high risk of developing postoperative complications (OR, 6.60; 95% CI, 4.34-10.03; P < .001); in particular, a ΔHb level of 50% or greater was strongly correlated with a risk of ischemic complications, even if the nadir Hb level was 7 g/dL or greater (OR, 5.68; 95% CI, 1.44-22.39; P = .01).A ΔHb level of 50% or greater following gastrointestinal surgery was associated with complications, especially ischemic adverse events, even if the nadir Hb level remained at 7 g/dL or greater.