tbuckley/cabot-search huggingface dataset:
A Mild Form of Adult-Onset Opsoclonus-Myoclonus Syndrome Associated With Antiglutamate Receptor Antibodies
Authors: Taiki Kambe, Yukitoshi Takahashi, Yoshiaki Furukawa
Journal: JAMA Neurology (2013)

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
The Ehlers-Danlos syndrome: on beyond collagens
Authors: Jau-Ren Mao, James Bristow
Journal: Journal of Clinical Investigation (2001)

The Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder affecting as many as 1 in 5,000 individuals (1). EDS is characterized in its most common form by hyperextensibility of the skin, hypermobility of joints often resulting in dislocations, and tissue fragility exemplified by easy bruising, atrophic scars following superficial injury, and premature rupture of membranes during pregnancy. The recognition of frequent ultrastructural abnormalities of collagen fibrils in EDS patients led to the concept that EDS is a disorder of fibrillar collagen metabolism (2). Following the identification of specific mutations in the genes encoding collagen types I, III, and V, as well as several collagen processing enzymes, the EDS classification scheme was collapsed into six distinct clinical syndromes (3), emphasizing the molecular basis of each form (Table ​(Table11).



Table 1

The Villefranche classification of EDS



Heterogeneity between the several clinical syndromes both complicates the diagnosis of EDS and makes accurate diagnosis imperative. Ultimately, one would like to be able to establish a molecular diagnosis for each EDS patient. This is a laudable goal because it may allow improved genetic counseling through correlation of mutant genotypes with specific outcomes or complications. However, as outlined below, the molecular defects described to date are not sufficient to explain disease in many EDS patients, including those with the most common classical and hypermobility types. As a result, the search for EDS genes recently has expanded beyond the collagens and collagen-modifying genes. An understanding of the complete complement of genes and proteins involved in EDS and the precise mechanisms by which they cause disease may teach us much about normal collagenous matrix deposition and remodeling. These processes are of critical importance during development, wound healing, and aging.
α-Adrenergic Stimulation Mediates Glucose Uptake Through Phosphatidylinositol 3-Kinase in Rat Heart
Authors: Torsten Doenst, Heinrich Taegtmeyer
Journal: Circulation Research (1999)

We examined whether insulin and catecholamines share common pathways for their stimulating effects on glucose uptake. We perfused isolated working rat hearts with Krebs-Henseleit buffer containing [2-3H]glucose (5 mmol/L, 0.05 microCi/mL) and sodium oleate (0.4 mmol/L). In the absence or presence of the phosphatidylinositol 3-kinase (PI3-K) inhibitor wortmannin (3 micromol/L), we added insulin (1 mU/mL), epinephrine (1 micromol/L), phenylephrine (100 micromol/L) plus propranolol (10 micromol/L, selective alpha-adrenergic stimulation), or isoproterenol (1 micromol/L) plus phentolamine (10 micromol/L, selective beta-adrenergic stimulation) to the perfusate. Cardiac power was found to be stable in all groups (between 8.07+/-0.68 and 10.7+/-0. 88 mW) and increased (25% to 47%) with addition of epinephrine, but not with selective alpha- and beta-adrenergic stimulation. Insulin and epinephrine, as well as selective alpha- and beta-receptor stimulation, increased glucose uptake (the following values are in micromol/[min. g dry weight]: basal, 1.19+/-0.13; insulin, 3.89+/-0.36; epinephrine, 3.46+/-0.27; alpha-stimulation, 4.08+/-0.40; and beta-stimulation, 3.72+/-0.34). Wortmannin completely inhibited insulin-stimulated and selective alpha-stimulated glucose uptake, but it did not affect the epinephrine-stimulated or selective beta-stimulated glucose uptake. Sequential addition of insulin and epinephrine or insulin and alpha-selective stimulation showed additive effects on glucose uptake in both cases. Wortmannin further blocked the effects of insulin on glycogen synthesis. We conclude that alpha-adrenergic stimulation mediates glucose uptake in rat heart through a PI3-K-dependent pathway. However, the additive effects of alpha-adrenergic stimulation and insulin suggest 2 different isoforms of PI3-K, compartmentation of PI3-K, potentiation, or inhibition by wortmannin of another intermediate of the alpha-adrenergic signaling cascade. The stimulating effects of both the alpha- and the beta-adrenergic pathways on glucose uptake are independent of changes in cardiac performance.
PROPHYLAXIS OF ALLERGIC DISEASE IN THE NEWBORN
Authors: Jerome Glaser
Journal: JAMA (1953)

Pediatricians and pediatric allergists have often observed that food sensitivities occur much more frequently in the first few months of life than in later infancy, childhood, and adult life. It is assumed that a physiological immunologic immaturity exists in the early months of life that results in sensitization and clinical symptoms caused by absorption from the intestinal tract of unaltered proteins in potentially allergic children. A potentially allergic child is a child who has at least one allergic parent or sibling.<sup>1</sup> Evidence that infants absorb unaltered protein from the gastrointestinal tract is well established.<sup>2</sup>Actually, as Walzer<sup>3</sup>has indicated, this takes place qualitatively at all ages; quantitative studies have not been made. In the late 1920's Glaser<sup>1</sup>observed frequent intolerance of egg yolk in infants when the food was introduced at the age of three months and rare intolerance when the food was introduced at the
Androgenic and Estrogenic Response of Green Mussel Extracts from Singapore’s Coastal Environment Using a Human Cell-Based Bioassay
Authors: Stéphane Bayen, Yinhan Gong, Hong Soon Chin, Hian Kee Lee, Yong Eu Leong, Jeffrey Philip Obbard
Journal: Environmental Health Perspectives (2004)

In the last decade, evidence of endocrine disruption in biota exposed to environmental pollutants has raised serious concern. Human cell-based bioassays have been developed to evaluate induced androgenic and estrogenic activities of chemical compounds. However, bioassays have been sparsely applied to environmental samples. In this study we present data on sex hormone activities in the green mussel, Perna viridis, in Singapore’s coastal waters. P. viridis is a common bioindicator of marine contamination, and this study is a follow-up to an earlier investigation that reported the presence of sex hormone activities in seawater samples from Singapore’s coastal environment. Specimens were collected from eight locations around the Singapore coastline and analyzed for persistent organic pollutants (POPs) and heavy metals. Tissue extracts were then screened for activities on androgen receptors (ARs) and estrogen receptors (ER-α and ER-β) using a reporter gene bio-assay based on a HeLa human cell line. Mussel extracts alone did not exhibit AR activity, but in the presence of the reference androgenic hormone dihydrotestosterone (DHT), activities were up to 340% higher than those observed for DHT alone. Peak activities were observed in locations adjacent to industrial and shipping activities. Estrogenic activities of the mussel extract both alone and in the presence of reference hormone were positive. Correlations were statistically investigated between sex hormone activities, levels of pollutants in the mussel tissues, and various biological parameters (specimen size, sex ratio, lipid and moisture content). Significant correlations exist between AR activities, in the presence of DHT, and total concentration of POPs (r = 0.725, p &lt; 0.05).
Sexual dimorphism in autoimmunity
Authors: Kira Rubtsova, Philippa Marrack, Anatoly V. Rubtsov
Journal: Journal of Clinical Investigation (2015)

Autoimmune diseases occur when the immune system attacks and destroys the organs and tissues of its own host. Autoimmunity is the third most common type of disease in the United States. Because there is no cure for autoimmunity, it is extremely important to study the mechanisms that trigger these diseases. Most autoimmune diseases predominantly affect females, indicating a strong sex bias. Various factors, including sex hormones, the presence or absence of a second X chromosome, and sex-specific gut microbiota can influence gene expression in a sex-specific way. These changes in gene expression may, in turn, lead to susceptibility or protection from autoimmunity, creating a sex bias for autoimmune diseases. In this Review we discuss recent findings in the field of sex-dependent regulation of gene expression and autoimmunity.
Daptomycin is effective as antibiotic-lock therapy in a model of Staphylococcus aureus catheter-related infection
Authors: Yolanda Meije, Benito Almirante, José Luis Del Pozo, María Teresa Martín, Nuria Fernández-Hidalgo, Adriana Shan, Jana Basas, Albert Pahissa, Joan Gavaldà
Journal: Journal of Infection (2014)
Validity and Limitations of Rat Mesoappendix Bioassay Studies
Authors: BENJAMIN W. ZWEIFACH, DELILAH B. METZ
Journal: Circulation Research (1955)

Bioassay data obtained by the rat mesoappendix method lend themselves poorly to statistical representation. Sufficient reproducibility for quantitative estimation of the titer of vasoactive materials was achieved only with crystalline substances or purified biological extracts. Neither the duration of the displacement of epinephrine reactivity nor the magnitude of the shift in effective constrictor doses of epinephrine provided a satisfactory measure of vasoactivity in blood specimens. A prozone phenomenon, with agents such as Pitressin, histamine and ferritin was encountered with potentiating effects being elicited in high dose ranges and inhibitory effects in low dose ranges.
Prolonged contraction duration in aged myocardium.
Authors: E G Lakatta, G Gerstenblith, C S Angell, N W Shock, M L Weisfeldt
Journal: Journal of Clinical Investigation (1975)

Isometric performance at 29degreesC was measured in left ventricular trabeculae carneae from young adult (6-mo) and aged (25-mo) rats (n equals 18 in each group). Active tension and maximal rate of tension development did not differ with age, but contraction duration was 255plus or minus6 ms in the young adult and 283plus or minus6 ms in the aged group (P less than0.001). Although catecholamine content per gram heart weight was less in the aged myocardium, additional experiments showed that neither 1 times 10-6 M propranolol nor pretreatment with 6-hydroxydopamine eliminated the age difference in contraction duration. To determine if this age difference resulted from a prolonged active state, electromechanical dissociation and the overshoot of contraction duration during recovery from hypoxia were measured. During paired stimulation greater mechanical refractoriness was found in aged muscles (P less than0.01), but intracellular action potential recordings showed no age difference in the electrical refractory period. On recovery from hypoxia, contraction duration overshoot was 117plus or minus 4percent of control in the young and 138plus or minus 4percent of control in the aged muscles (P less than0.01). The greater electromechanical dissociation and greater overshoot in contraction duration following hypoxia in aged myocardium suggests that prolonged contraction duration in aged myocardium results from a prolonged active state rather than changes in passive properties or myocardial catecholamine content.
Relation of Ultrastructure to Function in the Intact Heart: Sarcomere Structure Relative to Pressure Volume Curves of Intact Left Ventricles of Dog and Cat
Authors: Henry M. Spotnitz, Edmund H. Sonnenblick, David Spiro
Journal: Circulation Research (1966)

Reproducible pressure-volume curves have been obtained from fresh left ventricles removed from 10 cats and 27 dogs. Electron microscopic observations of sarcomere length and structure in the walls of these chambers have been correlated with the parameters of passive filling. In both the dog and the cat a similar relation of sarcomere length to filling pressure is observed, a filling pressure of 12 mm Hg corresponding to a sarcomere length of 2.2 µ. Sarcomeres shorter than 1.85 µ are not observed under conditions of passive filling. Sarcomeres tend to be longest in the inner layer of the ventricular wall. Filling pressure is observed to be a more general and reproducible index of sarcomere length than absolute or normalized filling volume. H zones are often present in the sarcomeres of the ventricular wall with filling pressures greater than 15 mm Hg and sarcomeres greater than 2.3 µ in length. These findings are discussed in relation to previous studies of papillary muscle and in relation to mathematical models for the left ventricle. The present results indicate that the normal left ventricle functions along the ascending portion of the length-tension curve, where the end diastolic sarcomere lengths are 2.2 µ or less.
Consistent Rearrangement of Chromosomal Band 6p21 with Generation of Fusion Genes<i>JAZF1/PHF1</i>and<i>EPC1/PHF1</i>in Endometrial Stromal Sarcoma
Authors: Francesca Micci, Ioannis Panagopoulos, Bodil Bjerkehagen, Sverre Heim
Journal: Cancer Research (2006)

Abstract Endometrial stromal sarcomas (ESS) represent &amp;lt;10% of all uterine sarcomas. Cytogenetic data on this tumor type are limited to 32 cases, and the karyotypes are often complex, but the pattern of rearrangement is nevertheless clearly nonrandom with particularly frequent involvement of chromosome arms 6p and 7p. Recently, a specific translocation t(7;17)(p15;q21) leading to the fusion of two zinc finger genes, juxtaposed with another zinc finger (JAZF1) and joined to JAZF1 (JJAZ1), was described in a subset of ESS. We present three ESS whose karyotypes were without the disease-specific t(7;17) but instead showed rearrangement of chromosomal band 6p21, twice as an unbalanced t(6p;7p) and once as a three-way 6;10;10 translocation. All three tumors showed specific rearrangement of the PHD finger protein 1 (PHF1) gene, located in chromosomal band 6p21. In the two tumors with t(6;7), PHF1 was recombined with the JAZF1 gene from 7p15, leading to the formation of a JAZF1/PHF1 fusion gene. The third tumor showed a t(6p;10q;10p) as the sole karyotypic abnormality, leading to the fusion of PHF1 with another partner, the enhancer of polycomb (EPC1) gene from 10p11; EPC1 has hitherto not been associated with neoplasia. The PHF1 gene encodes a protein with two zinc finger motifs whose involvement in tumorigenesis and/or tumor progression has not been reported before, but its rearrangement clearly defines a new pathogenetic subgroup of ESS. (Cancer Res 2006; 66(1): 107-12)
Professionals Agree: CSR a Useful Resource
Authors: M. E. Newman
Journal: JNCI Journal of the National Cancer Institute (1990)

Journal Article Professionals Agree: CSR a Useful Resource Get access Michael E. Newman Michael E. Newman Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 82, Issue 15, 1 August 1990, Page 1239, https://doi.org/10.1093/jnci/82.15.1239 Published: 01 August 1990
Abstract LB-4: Mitochondrial localized de2-7EGFR (EGFRvIII) protects glioma cells from metabolic shock
Authors: Terrance G. Johns
Journal: Cancer Research (2010)

Abstract Thirty percent of glioma patients express an activating mutation of the epidermal growth factor receptor (EGFR) known as the de2-7EGFR (or EGFRvIII). Glioma cells expressing de2-7EGFR contain an intracellular pool of the receptor that predominantly displays high-mannose glycosylation, consistent with delayed processing. We now show in glioma cells that most of the intracellular de2-7EGFR is located in the Golgi apparatus; identifying the Golgi as the organelle where the delay arises. This intracellular analysis also revealed low-levels of the de2-7EGFR within the mitochondria. Transfection of U87MG. 2-7 cells with a constitutive active Src, or activation of the endogenous Src via integrin engagement, enhanced this mitochondrial localization. In contrast, pharmacological inhibition of Src significantly reduced mitochondrial de2-7EGFR. Since de2-7EGFR is phosphorylated by Src at Y845, we generated U87MG glioma cells expressing a de2-7EGFR with a Y845F modification. The de2-7EGFR845F failed to show mitochondrial localization even when co-expressed with constitutive active Src. Given the role of mitochondria in metabolism, the effect of low glucose on de2-7EGFR localization was examined. U87MG.de2-7EGFR glioma cells grown in low glucose displayed significantly increased levels of mitochondrial de2-7EGFR and were able to survive and proliferate in low concentrations of glucose lethal to isogenic parental cells. Finally, the presence of an active and functional pool of de2-7EGFR in the mitochondria, probably explains why this receptor is clinically-resistant to some EGFR-specific therapeutics. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr LB-4.
PREVENTION OF ACUTE GRAFT-VERSUS-HOST DISEASE BY MONOCLONAL ANTIBODY TO INTERLEUKIN-2 RECEPTOR
Authors: Didier Blaise, Dominique Maraninchi, Claude Mawas, AnneMarie Stoppa, Michel Hirn, Denis Guyotat, Michel Attal, Josy Reiffers
Journal: The Lancet (1989)
Origin of Cells That Contribute to Neointima Growth
Authors: Hiroshi Iwata, Masataka Sata
Journal: Circulation (2008)

P ercutaneous coronary interventions (PCIs) have become widely adopted for treatment of coronary atherosclerosis.Although there is increasing use of new devices, restenosis still limits the long-term outcome of PCI. 1 Histological studies revealed that uninhibited cell accumulation in the neointima plays a principal role in the pathogenesis of post-PCI restenosis. 1 Many studies have documented that the majority of neointimal cells express some markers of smooth muscle cells (SMCs). 1 Thus, it was generally believed that SMCs in the adjacent medial layer migrate into the subendothelial space, proliferate, and synthesize extracellular matrix, thereby contributing to neointima formation. 2It was hypothesized that all neointimal SMCs in post-PCI restenosis are derived from medial SMCs.
Toddlers, teapots, and kettles: beware intraoral scalds.
Authors: D J Dye, M A Milling, E R Emmanuel, K V Craddock
Journal: BMJ (1990)

<h3>Introduction</h3> Limited UK research focuses on female military veterans’ gender-related experiences and issues when accessing civilian mental healthcare support. This study sought to illuminate a preliminary understanding of any gender differences in barriers that may discourage them accessing mental healthcare support. <h3>Methods</h3> A total of 100 participants completed an open online survey of UK triservice veterans who identified as having experienced postmilitary mental health problems. They completed a 30-item Barriers to Access to Care Evaluation scale and were asked to elaborate using free-text questions. Resulting quantitative data were analysed for gender-related differences, while the qualitative text was thematically explored. <h3>Results</h3> While stigma, previous poor experience of mental healthcare and a lack of trust in civilian providers were found to act as barriers to postmilitary support for both men and women, significantly more women reported that their gender had also impacted on their intention to seek help. Women also commented on the impact of gender-related discrimination during service on their help-seeking experiences. <h3>Conclusions</h3> While efforts are being made by the UK Ministry of Defence to reduce barriers to mental healthcare for those still serving in the Armed Forces, it has been more difficult to provide a similar level of support to the veteran population. With little veteran research focusing on the specific experiences of women, this study suggests that female veterans encounter specific access barriers and issues related to their gender. Further research is therefore needed to ensure these findings are addressed.
False-positive skin prick test responses to commercially available dog dander extracts caused by contamination with house dust mite (Dermatophagoides pteronyssinus) allergens☆☆☆★★★
Authors: M VANDERVEEN, M MULDERB, A WITTEMAN, R VANREE, R AALBERSE, H JANSEN, J VANDERZEE
Journal: Journal of Allergy and Clinical Immunology (1996)