tbuckley/cabot-search huggingface dataset:
An Autoinflammatory Disease Due to Homozygous Deletion of the<i>IL1RN</i>Locus
Authors: Sreelatha Reddy, Shuang Jia, Rhonda Geoffrey, Rachel Lorier, Mariko Suchi, Ulrich Broeckel, Martin J. Hessner, James Verbsky
Journal: New England Journal of Medicine (2009)

We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1-receptor antagonist (IL1RN). Mononuclear cells, obtained from the patient and cultured, produced large amounts of inflammatory cytokines, with increasing amounts secreted after stimulation with lipopolysaccharide. A similar increase was not observed in peripheral-blood mononuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions.
Differential Regional Expression Of Innate Immune Antimicrobial Proteins In Sinonasal Mucosa
Authors: S. Seshadri, M. Rosati, D.C. Lin, R. Carter, J. Norton, A. Kato, L. Suh, A.T. Peters, R. Chandra, K.E. Harris, H. Chu, D.B. Conley, B. Tan, L.C. Grammer, R.C. Kern, R.P. Schleimer
Journal: Journal of Allergy and Clinical Immunology (2012)
Importance of hepatic fibrosis in cystic fibrosis and the predictive value of liver biopsy
Authors: Peter J. Lewindon, Ross W. Shepherd, Meagan J. Walsh, Ristan M. Greer, Richard Williamson, Tamara N. Pereira, Kieran Frawley, Scott C. Bell, Jeffery L. Smith, Grant A. Ramm
Journal: Hepatology (2010)

Cystic fibrosis liver disease (CFLD), which results from progressive hepatobiliary fibrosis, is an important cause of morbidity and mortality, but it is difficult to identify before portal hypertension (PHT) ensues. Clinical signs, serum alanine aminotransferase (ALT) levels, and ultrasound (US) are widely applied, but their value in predicting the presence of cirrhosis, the development of PHT, or adverse outcomes is undetermined. The potential gold standard, liver biopsy, is not standard practice and, notwithstanding sampling error considerations, has not been systematically evaluated. Forty patients with cystic fibrosis (median age = 10.6 years) with abnormal clinical, biochemical, and US findings were subjected to dual-pass percutaneous liver biopsy. Clinical outcomes were recorded over 12 years of follow-up (median = 9.5 years for survivors). Logistic regression and receiver operating characteristic analyses were applied to predict hepatic fibrosis (which was assessed by fibrosis staging and quantitative immunohistochemistry) and the occurrence of PHT. PHT occurred in 17 of 40 patients (42%), including 6 of 7 (17%) who died during follow-up. Clinical examination, serum ALT levels, and US findings failed to predict either the presence of liver fibrosis or the development of PHT. Fibrosis staging on liver biopsy, where the accuracy was improved by dual passes ( P = 0.002, nonconcordance = 38%), predicted the development of PHT ( P &lt; 0.001), which occurred more frequently and at a younger age in those with severe fibrosis. Conclusion: Clinical modalities currently employed to evaluate suspected CFLD help to identify a cohort of children at risk for liver disease and adverse outcomes but do not predict an individual's risk of liver fibrosis or PHT development. Liver fibrosis on biopsy predicts the development of clinically significant liver disease. Dual passes help to address sampling concerns. Liver biopsy has a relevant role in the management of patients with suspected CFLD and deserves more widespread application. (Hepatology 2011)
Glomerular injury is exacerbated in diabetic integrin α1-null mice
Authors: R. Zent, X. Yan, Y. Su, B.G. Hudson, D.-B. Borza, G.W. Moeckel, Z. Qi, Y. Sado, M.D. Breyer, P. Voziyan, A. Pozzi
Journal: Kidney International (2006)
Reversible electrocardiographic changes in severe acute asthma.
Authors: D Siegler
Journal: Thorax (1977)

Previous reports have documented the occurrence of reversible electrocardiographic changes including right axis deviation, P pulmonale, right bundle-branch block, and ST-segment and T-wave abnormalities in patients with acute attacks of asthma. In a further systematic study, the electrocardiographs of 63 patients admitted with severe acute asthma have been evaluated. The most consistent change was an abnormally vertical P-wave axis in 78% of the patients. P pulmonale was present in 22% and right ventricular enlargement in only one patient. Right axis deviation, right bundle-branch block, and rhythm abnormality were not present in any patient. In 11%, ST-segment or T-wave abnormalities suggesting myocardial ischaemia were noted. These abnormalities persisted for up to nine days and were unexplained. Other ECG abnormalities in acute asthma may reflec positional changes of the heart due to overdistension of the lungs. All ECG changes resolved after clinical improvement.
945-66 Combination of Left and Right Precordial Leads: A New Technique in Exercise Testing with the Highest Diagnostic Ability for the Detection of Coronary Artery Disease
Authors: Andreas P. Michaelides, Zoi D. Psomadaki, Konstantina D. Aggeli, George A. Georgiades, Theodoros Argyriou, Pavlos K. Toutouzas
Journal: Journal of the American College of Cardiology (1995)
Endoscopic ultrasound diagnosis of an ERCP-related portobiliary fistula
Authors: M. Dawwas, K. Oppong, S. John, A. Vallance, J. French, J. Scott, M. Nayar
Journal: Endoscopy (2013)

A 69-year-old man, who had undergone a laparoscopic cholecystectomy 5 years previously, presented with episodic right upper quadrant pain accompanied by vomiting and sweating. Computed tomography (CT) showed two stones in a mildly dilated common bile duct (CBD). At endoscopic retrograde cholangiopancreatography (ERCP), wire-guided biliary cannulation was rendered challenging by a large periampullary diverticulum but was eventually achieved, revealing two stones in the distal CBD. A small biliary sphincterotomy was undertaken that was followed by a small, self-limiting bleed. An attempt to extract the stones using a balloon was unsuccessful owing to increasing patient restlessness and was complicated by dislodgment of the cannulation wire from the CBD. Biliary recannulation proved difficult and the procedure was terminated after deployment of a 4-cm, 7-Fr, double pigtail, plastic biliary stent ([Fig. 1]). The patient experienced troublesome abdominal pain and sweating after the procedure, requiring a brief hospital admission 3 days later. However, physical examination and a plain X-ray were unrevealing, laboratory investigation showed only a C-reactive protein of 61 mg/L, and the pain settled with conservative management. The patient underwent a further ERCP 5 weeks later during which removal of the biliary stent was complicated by a modest, spontaneously resolving bleed. Wire-guided cannulation at the previous sphincterotomy site revealed only faint, rapidly dissipating, biliary-like opacification despite several contrast injections ([Fig. 2]). The procedure was abandoned and, although the patient remained entirely asymptomatic thereafter, an urgent CT scan was performed. This disclosed gas shadowing in the portal vein extending to its peripheral intrahepatic branches, a thrombus in the main portal vein, and a small amount of peripancreatic and periportal free gas in keeping with a localized perforation ([Fig. 3]). A pancreaticobiliary endoscopic ultrasound (EUS) performed 8 days later demonstrated evidence of a communication between the portal vein and CBD, the two structures being inseparable at the level of the mid-duct in keeping with a portobiliary fistula ([Video 1]). However, no blood flow could be detected within the CBD, possibly due to the presence of a thrombus, albeit nonocclusive, within the portal vein. In addition, multiple CBD stones were seen (not shown). A CT scan carried out 2 months later confirmed spontaneous resolution of all portal vein abnormalities and extraluminal free gas. Complete biliary clearance was accomplished at subsequent ERCP ([Fig. 4]).
Time-Limited Trials
Authors: Amy P. Abernethy, David C. Currow
Journal: JAMA (2012)

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
Alexithymia and Tissue Inflammation
Authors: Kirsi Honkalampi, Soili M. Lehto, Heli Koivumaa-Honkanen, Jukka Hintikka, Leo Niskanen, Minna Valkonen-Korhonen, Heimo Viinamäki
Journal: Psychotherapy and Psychosomatics (2011)

&lt;i&gt;Background:&lt;/i&gt; Altered immune responses are seen in depression, and recent data suggest that similar changes could also be observable in alexithymia. We examined whether the inflammatory markers high-sensitivity C-reactive protein (hs-CRP) and interleukin (IL)-6 are independently related to alexithymia or its factors in a population-based sample. &lt;i&gt;Methods:&lt;/i&gt; This study formed a clinical part of the Kuopio Depression (KUDEP) general population study focusing on the mental health of a general population of adults aged 25–64 years (n = 308). Alexithymia was measured using the Toronto Alexithymia Scale (TAS-20), and depressive symptoms were assessed using the Beck Depression Inventory (BDI-21). &lt;i&gt;Results: &lt;/i&gt;The levels of IL-6 (in picograms per milliliter) and hs-CRP (in milligrams per liter) were significantly higher in alexithymic than in nonalexithymic subjects (IL-6 effect size, ES: 0.50; hs-CRP ES: 0.27). The BDI scores, hs-CRP and IL-6 explained 33.5% of the variation in TAS scores in the whole study population. According to logistic regression analysis, hs-CRP but not IL-6 increased the likelihood of belonging to the alexithymic group. This observation remained unaltered after additional adjustments for chronic inflammation-related disorders, the use of inflammation-modulating medications and depressive symptoms. &lt;i&gt;Conclusions:&lt;/i&gt; Our findings suggest that the association between hs-CRP and alexithymia resembles that observed in depressed patients. It is, however, independent of depressive symptoms. These findings widen our view on the stress-alexithymia concept.
Melanoma or not? Cancer testis antigens may help
Authors: M. Luftl, G. Schuler, A.A. Jungbluth
Journal: British Journal of Dermatology (2004)

Cancer testis antigens (CTAs) are expressed in a variety of malignant tumours. No CTA expression is found in normal adult tissues, except in male germ cells and occasionally placenta. To date, more than 20 CTAs or antigen families have been identified.Owing to their tumour-associated expression pattern, CTAs may be useful for making a distinction between benign and malignant neoplasms. The present study was done to analyse the value of CTAs for the discrimination of cutaneous melanoma and naevi.Primary melanomas (38) and 19 naevi were analysed for their expression of CTAs by immunohistochemistry using the following monoclonal antibodies (mAb) to the following antigens (mAb/antigen): MA454/MAGE-A1, 57B/MAGE-A4, ES121/NY-ESO-1. In a subset of melanomas (n = 26), the CTA panel was extended to three additional CTAs (mAb/antigen): CT7-33/MAGE-C1, M3H67/MAGE-A3 and GAGE/GAGE.All 19 naevi were negative for the mAbs MA454, M3H67, 57B, ES121, CT7-33 and GAGE. In melanoma, the immunoreactivity was as follows: MA454: 8/38 (21%), 57B 11/38 (29%), ES121 9/38 (24%). However, 19/38 (50%) were positive for at least one CTA. When 26 melanomas were tested for the expression of six different CTAs 20/26 (77%) were positive for at least one CTA.CTAs may be useful in the determination of suspected malignancy in cutaneous melanomas. The low incidence of particular CTAs can be overcome by increasing the number of CTAs analysed.
Points: Tuberculosis of the breast
Authors: C H Colins
Journal: BMJ (1984)

despite the evidence that in countries where health education of the public receives much higher priority than here, mortality from coronary heart disease has fallen below our own.The fall in mortality among doctors (and other professions) is almost certainly the result of the reduction of cigarette smoking and improved eating and exercise habits.This is what a population policy is likely to effect and is the responsibility of community physicians, health educators, and other health workers.The high risk strategy of detecting and advising those at greater risk whether from theirgenes or from their habits makes good sense and is already being carried out in several general practices.If Professor Oliver believes that this should be extended to the screening of the whole adult population to identify the 5%/, at highest risk he should spell out how this is to be done.Meanwhile it should be accepted that both strategies are necessary.
TCT-689 Impact of Final Kissing Ballooning on Stent Expansion, Apposition, and Neointimal Hyperplasia in Coronary Bifurcation Lesions Treated with 1-Stent Technique
Authors: Joo-Yong Hahn, Young Bin Song, Jeong Hoon Yang, Seung-Hyuk Choi, Jin-Ho Choi, Sang Hoon Lee, Hyeon-Cheol Gwon
Journal: Journal of the American College of Cardiology (2012)
γ-Hydroxybutyric Acid in Hair
Authors: Georges Mion, Jean-Pierre Tourtier, Yves Diraison
Journal: New England Journal of Medicine (2006)

To the Editor: The review (June 30 issue)1 on γ-hydroxybutyric acid (GHB) generated correspondence (Oct. 13 issue),2 which revealed that biochemical genetics laboratories can detect GHB.2 There is ...
Dopamine Transporter Binding in Smokers and Nonsmokers
Authors: Andrew Newberg, Caryn Lerman, Nancy Wintering, Karl Ploessl, P David Mozley
Journal: Clinical Nuclear Medicine (2007)

Purpose: Regional brain concentrations of dopamine transporters have been examined to elucidate the neurochemical substrates of neurologic and psychiatric conditions. Many of these conditions are associated with increased (or decreased) cigarette smoking prevalence; therefore, current smoking may confound the results of these investigations. This study determined whether healthy current smokers and nonsmokers exhibit differences in dopamine transporter (DAT) binding measured by Tc-99m TRODAT SPECT. Materials and Methods: Tc-99m TRODAT SPECT brain scans were retrospectively evaluated in 46 nonsmokers and 8 current smokers, all of whom had been recruited and screened as healthy controls for previous imaging studies. The scans were acquired approximately 3 hours after the intravenous administration of 740 MBq (20 mCi) of Tc-99m TRODAT and were reconstructed with a simple bandpass filter. Regions of interest (ROIs) were placed manually on subregions of the right and left basal ganglia and distribution volume ratios (DVRs) were compared for the smoker and nonsmoker groups. Results: There were significant decreases in DAT binding in current smokers compared with nonsmokers in the caudate nuclei bilaterally, the right anterior putamen and the left posterior putamen. Conclusion: Reduced DAT binding in ROIs relevant to movement disorders as well as other neuropsychiatric conditions may have important implications for evaluating scans in these patient populations.
Selected Topics on Genital Anomalies and Related Subjects
Authors: Howard W. Jones
Journal: JAMA (1970)

This volume is a collection of 41 chapters by 48 authors from 10 different countries on various aspects of sexual development and the techniques involved in investigation of patients with this problem. There are chapters on the nature of sex and the embryological development of the urogenital system and then certain technical chapters devoted to testicular and endometrial biopsies, vaginal cytology, and urinary hormone assays. There is a rather complete development of the chromosomal aspects of genital anomalies including basic reviews of deoxyribonucleic replication, sex chromosomes, and the like. There are clinical chapters on the usual subjects of Turner's syndrome, mixed gonadal dysgenesis, Klinefelter's syndrome, pure gonadal dysgenesis, testicular feminization, male hermaphroditism, menarche, true hermaphroditism, tumors in intersex patients, and many other subjects related to the general problems of sexual development. In addition, there are chapters on such subjects as amenorrhea, polycystic ovary, precocious sexual development, human male infertility, and
Hemolysis and cell-free hemoglobin drive an intrinsic mechanism for human disease
Authors: Mark T. Gladwin, Tamir Kanias, Daniel B. Kim-Shapiro
Journal: Journal of Clinical Investigation (2012)

Blood transfusion represents the first and most prescribed cell-based therapy; however, clinical safety and efficacy trials are lacking. Clinical cohort studies have suggested that massive transfusion and/or transfusion of aged stored blood may contribute to multiorgan dysfunction in susceptible patients. In this issue of the JCI, Baek and colleagues report that aged stored blood hemolyzes after massive transfusion in a guinea pig model. Hemolysis led to vascular and kidney injury that was mediated by cell-free plasma hemoglobin and prevented by coinfusion of the specific hemoglobin scavenger protein, haptoglobin. These studies support an expanding body of research indicating that intravascular hemolysis is a pathological mechanism in several human diseases, including multiorgan dysfunction after either massive red blood cell transfusion or hemoglobin-based blood substitute therapy, the hemoglobinopathies, malaria, and other acquired and genetic hemolytic conditions.
Understanding pRb: toward the necessary development of targeted treatments for retinoblastoma
Authors: Uma M. Sachdeva, Joan M. O’Brien
Journal: Journal of Clinical Investigation (2012)

Retinoblastoma is a pediatric retinal tumor initiated by biallelic inactivation of the retinoblastoma gene (RB1). RB1 was the first identified tumor suppressor gene and has defined roles in the regulation of cell cycle progression, DNA replication, and terminal differentiation. However, despite the abundance of work demonstrating the molecular function and identifying binding partners of pRb, the challenge facing molecular biologists and clinical oncologists is how to integrate this vast body of molecular knowledge into the development of targeted therapies for treatment of retinoblastoma. We propose that a more thorough genetic understanding of retinoblastoma would inform targeted treatment decisions and could improve outcomes and quality of life in children affected by this disease.
The adverse effect of low levels of ambient air pollutants on lung function growth in preadolescent children.
Authors: W Jedrychowski, E Flak, E Mróz
Journal: Environmental Health Perspectives (1999)

The main purpose of our study was to assess the effect of low concentrations of ambient air pollution on lung function growth in preadolescent children. We accounted for height velocity over the follow-up period and also for other possible confounders such as baseline anthropometric and physiologic characteristics of children. In addition to outdoor air pollution, we considered the possible effects of social class and exposure to indoor pollutants such as gas stove fumes or environmental tobacco smoke. The cohort prospective study was carried out in 1,001 preadolescent children from two areas of Krakow, Poland, that differed in ambient air pollutants. In the city center (higher pollution area), the mean annual level [+/- standard deviation (SD)] of suspended particulate matter was 52.6 +/- 53.98 microg/m(3) and that of SO(2) was 43.87 +/- 32.69 microg/m(3); the corresponding values in the control area were 33.23 +/- 35.99 microg/m(3) and 31.77 +/- 21.93 microg/m(3). Mean lung function growth rate adjusted to height velocity and lung function level at the study entry was significantly lower in boys and girls living in the more polluted areas. Also, the proportion of children with the slower lung function growth (SLFG) was higher in the children from the more polluted area of the city. The analysis completed in the group of children after the exclusion of asthmatic subjects and those with asthmalike symptoms confirmed that, in boys, odds ratios (ORs) for SLFG [forced vital capacity (FVC)] and air pollution after adjustment to baseline FVC, height, and growth rate was significant [OR = 2.15; 95% confidence interval (CI), 1.25-3. 69)]. The analysis also confirmed that for SLFG(FEV(1)) the OR was 1. 90 (CI, 1.12-3.25). The corresponding OR values in girls were insignificant (OR = 1.50; CI, 0.84-2.68 and OR = 1.39; CI, 0.78-2. 44). The association between ambient pollutants and poorer gain of pulmonary volumes in children living in more polluted areas suggests that air pollution in the residence area may be a part of the causal chain of reactions leading to retardation in pulmonary function growth during the preadolescent years.
The Hunterian Oration, ON RECENT SURGICAL METHODS IN THE TREATMENT OF CERTAIN FORMS OF PARALYSIS: DELIVERED BEFORE THE HUNTERIAN SOCIETY
Authors: A. H. Tubby
Journal: BMJ (1906)

OBTHOPAEDIC[AFTER thanking the Society for the honour conferred on him, the speaker referred in suitable terms to the sig- nificance of this anniversary 'in connexion with the life and work of the great John Hunter, and then
784-5 Gene Transfer in a Rabbit Model of Allograft Vasculopathy
Authors: Mandeep R. Mehra, Dwight D. Stapleton, R. Wayne Barbee, Tonglin Zhang, Hector O. Ventura, Frank W. Smart, Blanca Maldonado, Chin-Hu Huang, Trisha M. Rosenbohm, Joseph P. Murgo, Richard N. Re, Julia L. Cook
Journal: Journal of the American College of Cardiology (1995)
Ethyl Alcohol and the Cardiovascular System
Authors: Watts R. Webb
Journal: JAMA (1965)

Coronary flow and hemodynamic alterations were studied in dogs, following the intravenous administration of 0.5, 1.5, and 5 gm of ethyl alcohol/kg of body weight. Alcohol in low (0.5 gm/kg) or moderate (1.5 gm/kg) dosages causes a marked increase in work load of the heart proportionate to the amount administered. After toxic dosages (5gm/kg) all animals, although protected from respiratory failure, showed rapid and progressive deterioration with rising atrial pressure, hypotension, and death due to cardiac failure. At all dosage levels, coronary flow decreases and coronary resistance rises. The total peripheral resistance remains unchanged with low dosages but falls with larger dosages of alcohol. The same responses were noted with bonded bourbon as with laboratory alcohol.