tbuckley/cabot-search huggingface dataset:
CONGENITAL HEART BLOCK; REPORT OF A CASE OF SUSPECTED INTERVENTRICULAR SEPTAL DEFECT (MALADIE DE ROGER) WITH COMPLETE HEART BLOCK
Authors: Clarence D. Moll
Journal: Annals of Internal Medicine (1938)

Case Reports1 June 1938CONGENITAL HEART BLOCK; REPORT OF A CASE OF SUSPECTED INTERVENTRICULAR SEPTAL DEFECT (MALADIE DE ROGER) WITH COMPLETE HEART BLOCKCLARENCE D. MOLL, M.D., F.A.C.P.CLARENCE D. MOLL, M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-11-12-2273 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptFor clinical purposes congenital lesions of the heart may be divided into two groups: (1) those showing cyanosis as a conspicuous feature, and (2) those without cyanosis except as a transient or terminal event. Diagnosis of cases of the first group is rarely missed; in those of the second group, however, failure of diagnosis occurs with greater frequency. Certain congenital cardiac lesions are incompatible with more than a brief span of life and these have only a passing academic interest for the clinician for he rarely sees them. On the other hand there are those that cause slight or no...Bibliography1. CHRISTIAN HA: Oxford Monographs, Volume 3, Chapter XV, p. 330-332. Google Scholar2. ABBOTT ME: Osler's Modern Medicine, Volume 4, Chapter XXI, 3rd Edition, 1927. Google Scholar3. LEVY RL: Cecil's Textbook of Medicine, 1927, W. B. Saunders Co., Philadelphia, 1060-1061. Google Scholar4. YATER WM: Congenital heart block: review of the literature; report of a case, Am. Jr. Pediat., 1929, i, 112-136. Google Scholar5. MCGINNWHITE SPD: Progress in the recognition of congenital heart disease, New Eng. Jr. Med., 1936, ccxiv, 763-768. CrossrefGoogle Scholar6. YATERBARRIERMCNABB WMCWPE: Acquired heart block with Stokes-Adams attacks dependent upon a congenital anomaly (persistent ostium primum): report of case with detailed histopathologic study, ANN. INT. MED., 1934, vii, 1263-1277. LinkGoogle Scholar7. LEECH CB: Congenital heart disease: clinical analysis of 75 cases from the Johns Hopkins Hospital, Jr. Pediat., 1935, vii, 802-839. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Detroit, Michigan*Received for publication March 29, 1937. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 June 1938Volume 11, Issue 12Page: 2273-2275KeywordsCongenital heart defectsHeartLesions ePublished: 1 December 2008 Issue Published: 1 June 1938 PDF downloadLoading ...
Abstract 13817: Clinical Significance of Whole Exome Analysis Using Next Generation Sequencing in the Genotype-negative Long-QT Syndrome
Authors: Takeshi Aiba, Kohei Ishibashi, Mitsuru Wada, Ikutaro Nakajima, Koji Miyamoto, Hideo Okamura, Takashi Noda, Daichi Shigemizu, Wataru Satake, Tetsushi Toda, Kengo Kusano, Shiro Kamakura, Satoshi Yasuda, Akihiro Sekine, Yoshihiro Miyamoto, Toshihiro Tanaka, Hisao Ogawa, Wataru Shimizu
Journal: Circulation (2014)

Background:  Long-QT syndrome (LQTS) is characterized by QT prolongation of ECG and syncope or sudden unexpected death by lethal ventricular arrhythmias, and approximately 70% of patients with a clinically diagnosis has three major LQTS-genes such as KCNQ1, KCNH2 and SCN5A, whereas 30% of LQTS cases remains genetically elusive.  Next-generation sequencing (NGS) provides an unprecedented opportunity to assess genetic variation underlying human disease. Here, we investigated usefulness of the whole exon sequencing (WXS) by NGS for diagnosis in patients without identified major LQTS-genes by the Sanger sequencing method.   Methods:  From 1815 Japanese LQTS cohort patients, WXS was performed in 400 (22%) consecutive genotype-negative/ phenotype-positive unrelated LQTS patients (196 probands and 204 families) in which major LQTS genes such as KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2 and KCNJ2 had already been screened. After WXS, the genes known as inherited arrhythmias were screened by the Human Gene Mutation Database, and the Sanger sequencing was also referred for validation of the mutations and common variants were excluded by the public (1000G, ESP6500 and dbSNP) and Japanese Riken database.   Results:  Total 4 novel mutations in ANK2 gene, two AKAP9, one CAV3, and one SNTA1 mutations were identified from WXS using NGS. No significant difference was observed in the QTc interval between patients with ANK2 mutations and other genotype-negative LQTS (491±72 vs. 456±47 ms; p=NS). However, 3 of 4 patients with ANK2 mutations had symptoms (syncope or VF) while none in AKAP9, CAV3 and SNTA1 mutations had symptoms.  On the other hand, 3 KCNQ1, 2 KCNH2, and one SCN5A mutations, which could not be identified by the Sanger method, and 2 NOS1AP variants were identified and 8 (including 5 novel) mutations in RyR2 gene were also identified from WXS. Many of the patients with RyR2 mutation had similar exercise-induced cardiac events (3 syncope, 2 VF) as LQTS patients, while the QTc interval was shorter in patients with RyR2 mutation than those with genotype-negative LQTS (441±32 vs. 487±47ms; p=0.01).   Conclusions:  Whole exon sequencing by NGS revealed that small but not negligible number of patients have a mutation in the minor LQTS genes or RyR2 gene in the genotype-negative LQTS patients.
The Architect's Dream
Authors: M. Therese Southgate
Journal: JAMA (2001)

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
Effects of fish oil on ventricular tachyarrhythmia in patients with implantable defibrillators: A pooled analysis
Authors: I.A. Brouwer, M.H. Raitt, C. Dullemeijer, D.F. Kraemer, P.L. Zock, C. Morris, M.B. Katan, W.E. Conner, A.J. Camm, E.G. Schouten, J. McAnulty
Journal: Circulation (2007)
Abstract 11521: Prognostic Value of Left Atrial Function in Normal Exercise Stress Echocardiography
Authors: Rayji S Tsutsui, Kenya Kusunose, Zoran B Popovic, James D Thomas
Journal: Circulation (2014)

Background: The association between poor left atrial (LA) function and adverse outcomes in subjects following an acute myocardial infarction is recognized. On the other hand, prognostic value of LA function in low risk subjects is not well characterized. The purpose of this study was to assess the prognostic value of LA function in subjects who have exercise stress echocardiography negative for ischemia. Methods: Subjects who underwent exercise stress echocardiography for exclusion of coronary artery disease (CAD) between January to April 2010 were included. Subjects were excluded if they were in atrial fibrillation/flutter at the time of exercise, left ventricular ejection fraction (LVEF) &lt; 45%, moderate or severe valvular disease, echocardiographic evidence of exercise-induced myocardial ischemia, or had known CAD. Maximum metabolic equivalents (METs), LA total strain (analyzed offline with Siemens Syngo VVI), LV E/e’, LA volume index (LAVI) were measured for all subjects. Diagnosis of major adverse cardiac events (MACE: myocardial infarction, coronary revascularization, cardiovascular mortality) and coronary artery disease (CAD: angina, unstable angina) were recorded. Results: Of 672 subjects identified, 486 subjects remained after exclusion. The mean follow up time was 51.6 ± 1.2 months, and the mean LVEF was 56 ± 5%. Following the index stress test, 25 (5%) subjects had MACE and 35 (7%) subjects had CAD. With MACE, maximum METs was a strong prognostic factor, with worse outcome when METs &lt; 9 (median = 9). None of the echocardiographic parameters reached statistical significance. For CAD, none of the variables reached statistical significance including METs. Conclusions: In subjects who have negative exercise stress test for ischemia, reduced METs was strongly associated with adverse outcomes. In this low risk population, none of the tested LA echocardiographic parameters appeared to be associated with adverse outcomes.
Abstract 1510: Curcumin, a Natural p300-specific Histone Acetyltransferase Inhibitor, Prevents the Development Heart Failure in rats
Authors: Tatsuya Morimoto, Yoichi Sunagawa, Teruhisa Kawamura, Tomohide Takaya, Hiromichi Wada, Akira Shimatsu, Koji Hasegawa, Shoichi Miyamoto, Atsushi Nagasawa, Masashi Komeda, Masatoshi Fujita, Toru Kita
Journal: Circulation (2007)

Background: Signals activated by hemodynamic overload to the heart finally reach the nuclei of cardiac myocytes, activate hypertrophy-responsive transcription factors such as a zinc finger protein ...
Manual of Human Embryology.
Authors: Franz Keibel, Franklin P. Mall
Journal: JAMA (1913)

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 12315: Four-and-a-Half LIM Domain Protein-2 Absence Reduces Atherogenesis in Apolipoprotein E-deficient Mice: Role of Monocytic Immune Cells
Authors: Talin Ebrahimian, David Simon, Stefania Simeone, Catherine A Lemarié, Maryam Heidari, Koren Mann, Stéphanie Lehoux, Sven Wassmann
Journal: Circulation (2014)

Background: Four-and-a-half LIM domain protein-2 (FHL2) is expressed in endothelial and vascular smooth muscle cells. It negatively regulates endothelial cell survival and migration, but its role in atherogenesis is unknown. Methods and Results: FHL2-deficient (FHL2-/-) mice were crossed with apolipoprotein E-deficient (ApoE-/-) mice to generate ApoE/FHL2-/- mice. After high-fat, high-cholesterol diet, ApoE/FHL2-/- mice displayed significantly smaller atherosclerotic plaques than ApoE-/- mice in the aortic sinus, the brachiocephalic artery and the aorta. This was associated with significantly enhanced collagen and smooth muscle cell contents and a significant 2-fold reduction of macrophage content within the plaques of ApoE/FHL-2-/- vs ApoE-/- mice. There was a significant reduction in aortic ICAM-1 mRNA and VCAM-1 protein expression in the plaques of ApoE/FHL2-/- mice. Aortic gene expression of CX3CL1 and CCL5 was significantly increased in ApoE/FHL2-/- vs ApoE-/- mice. Peritoneal thioglycollate injection elicited equivalent numbers of monocytes and macrophages in both groups, but a significantly lower number of pro-inflammatory Ly6C-high monocytes were recruited in ApoE/FHL2-/- vs ApoE-/- mice. Furthermore, mRNA levels of CX3CR1 were 2-fold higher in monocytes from ApoE/FHL2-/- vs ApoE-/- mice. Finally, we investigated the potential importance of myeloid cell FHL2 deficiency in atherosclerosis. After being irradiated, ApoE-/- or ApoE/FHL2-/- mice were transplanted with ApoE-/- or ApoE/FHL2-/- bone marrow. After high-fat, high-cholesterol diet, both chimeric groups developed significantly smaller plaques than ApoE-/- mice transplanted with ApoE-/- bone marrow. Conclusion: These results suggest that FHL2 in both myeloid and vascular cells may play an important role in atherogenesis by promoting pro-inflammatory chemokine production, adhesion molecule expression, and pro-inflammatory monocyte recruitment.
Expression of c-FLIPL and resistance to CD95-mediated apoptosis of monocyte-derived dendritic cells: inhibition by bisindolylmaleimide
Authors: Fabienne Willems, Zoulikha Amraoui, Nathalie Vanderheyde, Valérie Verhasselt, Ezra Aksoy, Carsten Scaffidi, Marcus E. Peter, Peter H. Krammer, Michel Goldman
Journal: Blood (2000)
523. Inhibition of Retinal Neovascularization by Intraocular Gene Delivery of Soluble VEGF Receptors
Authors: Anand S. Srivastava, Steve Shenouda, Mohamed E. Moustafa, Ewa Carrier
Journal: Molecular Therapy (2004)

Successful treatment of neural degenerative disorders with embryonic stem (ES) cells will require an understanding of the molecular mechanism involved in neural differentiation and repair. We hypothesized that damaged tissues will create an environmental niche and stimulate ES cells migration and differentiation. The environmental niche is more important than the origin of the stem cell. We induced damage in murine (C57BL/6) brain by injecting 2.5 μl of PBS into the left frontal and right caudal regions and confirmed neural damage by immunohistochemistry. Murine embryonic stem cells expressing EYFP (Nagy et al., Cell Biol., 2001; 115:49-58.) were injected into the none damaged left caudal portion of the brain (50,000 cells/1 μl). Using histochemistry (anti-YFP peroxidase) and fluorescent microscopy, we observed the migration of ES cells from the injection site (left caudal) to the damaged site (right caudal and left frontal) at 5 days post injection. Real-time PCR assay performed on the portions of the damaged neural tissues containing ES cells demonstrated 4-fold increase in expression of OCT4, SOX2 and FGF4 genes that were shown to be active in neural differentiation. Increase in PDGF protein expression was detected in the migration site. It is unsure at this point whether the increase in gene expression occurred in the damaged neural tissue or injected ES cells or both and relevant studies are in progress. We conclude that ES cells migrate to damaged portion of the brain and the damaged brain tissue (niche) stem cell interactions promote expression of genes related to neural regeneration.
Theories in health care and research: The importance of theories in health care
Authors: P. Alderson
Journal: BMJ (1998)

<h3>Objective.</h3> To analyze the role that infections play on the antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) outcome. <h3>Methods.</h3> A retrospective study of adult patients with AAV diagnosed in a tertiary center. Clinical features, laboratory findings, treatment, relapses, major infections, and outcome were evaluated. <h3>Results.</h3> Included were 132 patients [51 microscopic polyangiitis (MPA), 52 granulomatosis with polyangiitis (GPA), 29 eosinophilic GPA (EGPA)] with a mean followup of 140 (96–228) months. ANCA were positive in 85% of cases. A total of 300 major infections, mainly bacterial (85%), occurred in 60% patients during the followup. Lower respiratory tract (64%) and urinary tract infections (11%) were the most frequent, followed by bacteremia (10%). A total of 7.3% opportunistic infections were observed, most due to systemic mycosis. Up to 46% of all opportunistic infections took place in the first year of diagnosis, and 55% of them under cyclophosphamide (CYC) treatment. Bacterial infections were associated with Birmingham Vasculitis Activity Score (version 3) &gt; 15 at the disease onset, a total cumulative CYC dose &gt; 8.65 g, dialysis, and development of leukopenia during the followup. Leukopenia was the only factor independently related to opportunistic infections. Forty-four patients died, half from infection. Patients who had major infections had an increased mortality from any cause. <h3>Conclusion.</h3> Our results confirm that major infections are the main cause of death in patients with AAV.
945. E1B-Mutant Replication Competent Adenovirus Combined with Chemotherapeutic Agents Shows Increased Anti-Tumor Effect
Authors: A-Rum Yoon, Pyung-Hwan Kim, Joo-Hyuk Sohn, Chae-Ok Yun, Joo-Hang Kim
Journal: Molecular Therapy (2004)

Top of pageAbstract
Gene attenuated replication competent adenoviruses are being developed as novel anti-tumor therapeutics. Clinical trials with the ONYX-015 (E1B 55kDa-deleted) adenovirus in combination with chemotherapeutic agents, cisplatin or 5-FU, have demonstrated a synergistically lethal effect. All replicating adenoviruses used in combination therapy to date have their E1B 19kDa gene in tact. The E1B 19kDa functions as an anti-apoptotic agent. Due to cell death induced by the apoptotic pathway, the E1B 19kDa gene may interfere with the mode of action of chemotherapeutic agents, underestimating the value of these combination studies. For the aim of improving adenoviral vectors for cancer gene therapy, we generated adenoviral vectors with different combination of E1B 19kDa and E1B 55kDa genes and investigated the possibility of enhanced oncolytic and replication ability of these adenoviruses (Ad-ΔE1B55, Ad-ΔE1B19/55) combined with various chemotherapeutic agents. The in vitro efficacy of adenovirus and chemotherapeutic agents (taxol, cisplatin, 5-FU, adriamycin) has been evaluated by comparison of CPE assay and MTT assay. Our results show that the degree of cytopathic effect of Ad-ΔE1B19/55 was higher than that of Ad-ΔE1B55. Furthermore, compared with a virus-only treatment, combination therapy with Ad-ΔE1B19/55 and chemotherapeutic agents led to improved cytopathic effect compared to combination therapy with Ad-ΔE1B55 and chemotherapeutic agents. PI staining and TUNEL assay also revealed that combination therapy with Ad-ΔE1B19/55 and chemotherapeutic agents caused greater induction of apoptosis compared to that with Ad-ΔE1B55 and chemotherapeutic agents. Through limiting titration experiments, the total yield of adenovirus was shown to be higher when the adenovirus was treated in combination with paclitaxel compared to virus-only treatment. In contrast, the total yield of adenovirus was shown to be lower or equal when the adenovirus was treated in combination with cisplatin, 5-FU, or adriamycin compared to virus-only treatment. E1B-mutant replication competent adenovirus combined with paclitaxel exhibited superior anti-tumor effect in C33A cervical xenograft tumor in vivo compared to individual treatments of the adenovirus or paclitaxel.Taken together, the E1B 19kDa-deleted (Ad-ΔE1B19/55) replication competent adenovirus may serve as an enhanced vector for anticancer gene therapy, especially when applied in combination with apoptotic chemotherapeutic agents such as paclitaxel.
Cytomegalovirus immune evasion by perturbation of endosomal trafficking
Authors: Pero Lučin, Hana Mahmutefendić, Gordana Blagojević Zagorac, Maja Ilić Tomaš
Journal: Cellular and Molecular Immunology (2014)

Cytomegaloviruses (CMVs), members of the herpesvirus family, have evolved a variety of mechanisms to evade the immune response to survive in infected hosts and to establish latent infection. They effectively hide infected cells from the effector mechanisms of adaptive immunity by eliminating cellular proteins (major histocompatibility Class I and Class II molecules) from the cell surface that display viral antigens to CD8 and CD4 T lymphocytes. CMVs also successfully escape recognition and elimination of infected cells by natural killer (NK) cells, effector cells of innate immunity, either by mimicking NK cell inhibitory ligands or by downregulating NK cell-activating ligands. To accomplish these immunoevasion functions, CMVs encode several proteins that function in the biosynthetic pathway by inhibiting the assembly and trafficking of cellular proteins that participate in immune recognition and thereby, block their appearance at the cell surface. However, elimination of these proteins from the cell surface can also be achieved by perturbation of their endosomal route and subsequent relocation from the cell surface into intracellular compartments. Namely, the physiological route of every cellular protein, including immune recognition molecules, is characterized by specific features that determine its residence time at the cell surface. In this review, we summarize the current understanding of endocytic trafficking of immune recognition molecules and perturbations of the endosomal system during infection with CMVs and other members of the herpesvirus family that contribute to their immune evasion mechanisms.
Activation of Adenylate Cyclase by Heat-Labile Escherichia Coli Enterotoxin
Authors: Joel Moss, Stephen H. Richardson
Journal: Journal of Clinical Investigation (1978)

Highly purified, polymyxin-released, low molecular weight Escherichia coli heat-labile enterotoxin (LT) catalyzed the hydrolysis of NAD to ADP-ribose and nicotinamide. This NAD glycohydrolase activity was stimulated by dithiothreitol and was independent of cellular components. Nicotinamide formation was enhanced by arginine methyl ester > d-arginine ≅ l-arginine ≅ guanidine. A 20-fold increase in activity was noted with arginine methyl ester, and maximal activity again required dithiothreitol. When the reaction was initiated with toxin, a delay was observed before a constant rate was established. The reaction products found after incubation of [adenine-U-14C]NAD and l-[3H]arginine or unlabeled arginine methyl ester with the enterotoxin had mobilities on thin-layer chromatograms similar to the reaction products obtained after incubation of choleragen with these substrates and are consistent with the formation of ADP-ribose-l-arginine and ADP-ribose-l-arginine methyl ester, respectively. Both toxins, which catalyze the NAD-dependent activation of adenylate cyclase, thus appear to possess NAD glycohydrolase and ADP-ribosyltransferase activities. Although the activities of both toxins are dependent on dithiothreitol, Escherichia coli enterotoxin exhibited optimal activity in Tris (Cl−) (pH 7.5) and was inhibited by high concentrations of potassium phosphate (pH 7.0) or low pH (sodium acetate, pH 6.2). It appears that the optimal assay conditions as well as the kinetic constants for the reactants differ from those previously noted with choleragen. It is probable therefore that although the two toxins catalyze similar reactions, they differ in primary structure. The presence of transferase and glycohydrolase activities in structurally distinct toxins that activate adenylate cyclase strengthens our hypothesis that the ADP-ribosylation of arginine is a model for the NAD-dependent activation of adenylate cyclase; activation may result from ADP-ribosylation of the cyclase itself or of a protein that regulates its activity.