tbuckley/cabot-search huggingface dataset:
Fibrinogen Šumperk II: Dysfibrinogenemia in an individual with two coding mutations
Authors: Roman Kotlín, Jiří Suttnar, Irena Čápová, Ingrid Hrachovinová, Marie Urbánková, Jan Evangelista Dyr
Journal: American Journal of Hematology (2012)

Fibrinogen—a 340-kDa glycoprotein—plays a crucial role in blood coagulation, platelet aggregation, wound healing, and other physiological processes. A mutation in fibrinogen may lead to congenital dysfibrinogenemia,a rare disease characterized by the functional deficiency of fibrinogen. About 580 cases of abnormal fibrinogens have been reported worldwide; thereof 335 cases in the fibrinogen Aa chain[1]. To our knowledge, only five cases of abnormal fibrinogens with two mutations [2–6] and one case of two different mutations in the same family [7] have been described earlier. A 52-year-old female was examined for bleeding. Routine hemostasis screening resulted in a diagnosis of dysfibrinogenemia. Functional testing revealed prolonged fibrin polymerization, prolonged lysis of the clot, abnormal fibrin morphology,and fibrinopeptides release. Genetic analysis showed two heterozygous nonsense mutations—previously described mutation AaGly13Glu and a novel mutation Aa Ser314Cys. The mutation Aa Gly13-Glu was found in her brother and niece, but there was no evidence in either of the mutation Aa Ser314Cys. While mutation Aa Gly13Glu is responsible for abnormal fibrinopeptide release and prolonged thrombin time, the novel mutation Aa Ser314Cys seems to affect fibrin morphology and fibrinolysis.
Babies' deaths linked to suboptimal care
Authors: C. D A Wolfe
Journal: BMJ (1995)

EDrrOR,-I agree with Vidya Rao that schools should be encouraged to tackle bullying.'In my clinical experience, however, parents have not necessarily already taken the matter up with the school.Many parents have not even known that their child was being bullied, and those who have approached the school have often had the response, "We don't have bullying in this school."Schools can do much to reduce bullying.In Norway a national campaign was mounted after three children committed suicide as a result of bullying.A number of measures at the school, class, and individual levels were used.The frequency of bully-victim problems decreased by half during the following two years.2Rates of truancy and antisocial behaviours in general also dropped, and pupils' satisfaction with school life improved.In Britain the Department of Education's Sheffield bullying project evaluated a similar intervention programme.The results of this were published last year,' together with clear practical advice for teachers.4This research provided the basis for the Department for Education's guidelines.'In my editorial I hoped to raise doctors' aware- ness of bullying, its effects on the child, and what can be done in the hope that together doctors, parents, and schools can prevent the continued abuse ofvictims ofbullying in schools.6
Issues in the Pharmacokinetics of Trichloroethylene and Its Metabolites
Authors: Weihsueh A. Chiu, Miles S. Okino, John C. Lipscomb, Marina V. Evans
Journal: Environmental Health Perspectives (2006)

Much progress has been made in understanding the complex pharmacokinetics of trichloroethylene (TCE) . Qualitatively, it is clear that TCE is metabolized to multiple metabolites either locally or into systemic circulation. Many of these metabolites are thought to have toxicologic importance. In addition, efforts to develop physiologically based pharmacokinetic (PBPK) models have led to a better quantitative assessment of the dosimetry of TCE and several of its metabolites. As part of a mini-monograph on key issues in the health risk assessment of TCE, this article is a review of a number of the current scientific issues in TCE pharmacokinetics and recent PBPK modeling efforts with a focus on literature published since 2000. Particular attention is paid to factors affecting PBPK modeling for application to risk assessment. Recent TCE PBPK modeling efforts, coupled with methodologic advances in characterizing uncertainty and variability, suggest that rigorous application of PBPK modeling to TCE risk assessment appears feasible at least for TCE and its major oxidative metabolites trichloroacetic acid and trichloroethanol. However, a number of basic structural hypotheses such as enterohepatic recirculation, plasma binding, and flow- or diffusion-limited treatment of tissue distribution require additional evaluation and analysis. Moreover, there are a number of metabolites of potential toxicologic interest, such as chloral, dichloroacetic acid, and those derived from glutathione conjugation, for which reliable pharmacokinetic data is sparse because of analytical difficulties or low concentrations in systemic circulation. It will be a challenge to develop reliable dosimetry for such cases.
Cocaine and HIV Prevalence in an Alcohol Treatment Center
Authors: Ronald Epstein
Journal: JAMA (1994)

<h3>To the Editor.</h3> —The recent study by Dr Avins and colleagues<sup>1</sup>indicated that in an urban public alcohol treatment center population, human immunodeficiency virus (HIV) infection was far more common than in the general population. The study did not examine the independent contribution of noninjection use of cocaine to the increased seroprevalance of HIV infection. Cocaine is a powerful stimulant and aphrodisiac and frequently causes disinhibition. The urban cocaine culture is characterized by crack houses where drugs are often exchanged for sexual favors. Concomitant use of cocaine and alcohol is common in such settings. Because of the large number of study patients who use both alcohol and cocaine, the independent contributions of these substances could not be measured. A more accurate conclusion of this particular study would be that the concomitant use of alcohol and noninjection drugs is associated with an increased prevalence of HIV infection and that further
How to safeguard your ring in theatre
Authors: A Ardolino, T B Crook, H P Taylor
Journal: BMJ (2008)

<h3>Background</h3> Photophobia is a potentially debilitating symptom often found in dry eye disease (DE), migraine and traumatic brain injury (TBI). <h3>Methods</h3> We conducted a review of the literature via a PubMed search of English language articles with a focus on how photophobia may relate to a shared pathophysiology across DE, migraine and TBI. <h3>Results</h3> DE, migraine and TBI are common conditions in the general population, are often comorbid, and share photophobia as a symptom. Across the three conditions, neural dysregulation of peripheral and central nervous system components is implicated in photophobia in various animal models and in humans. Enhanced activity of the neuropeptide calcitonin gene-related peptide (CGRP) is closely linked to photophobia. Current therapies for photophobia include glasses which shield the eyes from specific wavelengths, botulinum toxin, and inhibition of CGRP and its receptor. Many individuals have persistent photophobia despite the use of these therapies, and thus, development of new therapies is needed. <h3>Conclusions</h3> The presence of photophobia in DE, migraine and TBI suggests shared trigeminothalamic pathophysiologic mechanisms, as explained by central neuroplasticity and hypersensitivity mediated by neuropeptide CGRP. Treatment strategies which target neural pathways (ie, oral neuromodulators, transcutaneous nerve stimulation) should be considered in patients with persistent photophobia, specifically in individuals with DE whose symptoms are not controlled with traditional therapies.
Case Series of Dermatologic Events Associated With the Insulin-Like Growth Factor Receptor 1 Inhibitor Cixutumumab
Authors: May Daher, Mario E. Lacouture, Dana Rathkopf, Robert G. Maki, Mary Louise Keohan, Bolorsukh Gansukh, Helen Chen, Ghassan K. Abou-Alfa
Journal: Journal of Clinical Oncology (2011)

The insulin-like growth factor-1 receptor (IGFR1) is frequently overexpressed in a broad range of tumors. Its signaling has been shown to be involved in tumorigenesis and metastatic potential of multiple cancers.1 Drugs targeting this pathway began to be developed in the late 1990s, including monoclonal antibodies to IGFR1.2 Cixutumumab (IMC-A12; ImClone Systems, Bridgewater, NJ), a fully humanized monoclonal IgG1 antibody, binds to IGFR1 with high affinity, inhibiting its activation.3

Because IGFR1-targeted therapy is relatively new, the potential toxicities are not fully understood. IGF-1 has many physiologic roles that could potentially be compromised by the inhibition of its receptor. One of these roles is to enhance epidermal proliferative potential as well as keratinocyte cell migration.4 Therefore, potential dermatologic adverse effects can be anticipated when IGFR1 function is inhibited. An in-depth review of the literature did not reveal any previous reports that have addressed this issue. In this article, we describe four patients who were enrolled onto clinical trials using cixutumumab and subsequently developed skin and nail abnormalities.
Two Cases of Accidental Hypothermia
Authors: R. G. Hardwick
Journal: BMJ (1962)

Urinary calcium excretion has been measured in 13 normal subjects and 24 cases of osteoporosis on a ward diet and after seven full days on a low-calcium diet.The mean calcium excretion of the two groups did not differ significantly on either diet.In normal subjects urinary calcium excretion fell significantly after a low-calcium diet; in the patients with osteoporosis the mean excretion did not change.The data are compatible with the concept that patients with osteoporosis are less able than normal subjects to adapt to a low-calcium diet by reducing calcium excretion.
A Pitfall of FDG-PET Image Interpretation: Accumulation of FDG in the Dependent Area of the Urinary Bladder After Bladder Irrigation???The Usefulness of the Prone Position
Authors: Wan-Yu Lin, Guang-Uei Hung, Shih-Chuan Tsai
Journal: Clinical Nuclear Medicine (2005)

In F-18 FDG PET studies, retrograde irrigation of the urinary bladder is usually used to reduce the interference with physiological urinary accumulation of F-18 FDG in patients with possible pelvic lesions. A 34-year-old female who had recently been diagnosed with cervical cancer had an F-18 FDG-PET scan performed for whole-body evaluation. The bladder was irrigated with physiological saline and filled with 200 mL of irrigation fluid through a 3-way balloon catheter inserted before the scan. Two areas with high FDG accumulation were noted in the posterior pelvis. Tumor invasion or metastasis could not be ruled out. Additional focal imaging of the pelvis was performed with the patient in the prone position. The lesion on the left side of the patient was still noted, whereas the lesion on the right had disappeared, which proved that it was a false-positive lesion. Great caution is required when assessing imaging results to avoid misdiagnosis in patients after bladder irrigation.
Evidence that the T cell antigen receptor may not be involved in cytotoxicity mediated by gamma/delta and alpha/beta thymic cell lines.
Authors: J H Phillips, A Weiss, B T Gemlo, A A Rayner, L L Lanier
Journal: The Journal of Experimental Medicine (1987)

After culture in IL-2, thymocytes expressing either TCR-alpha/beta or -gamma/delta acquired the ability to lyse hematopoietic and solid tumor cell targets without deliberate immunization or apparent restriction by the MHC. Moreover, TCR-alpha/beta- and TCR-gamma/delta-bearing thymic cell lines demonstrated an essentially identical spectrum of cytolysis against several tumor cell targets. Cytotoxicity was not inhibited by antibodies against CD3 or CD2 and modulation of the CD3/TCR complex also failed to affect cytotoxicity. Thus, non-MHC-restricted cytotoxicity can be mediated by thymocytes with either TCR-alpha/beta or TCR-gamma/delta, but the TCR may not be responsible for target recognition.
Characterization and distribution of alpha 2-adrenergic receptors in the human intestinal mucosa.
Authors: P Valet, J M Senard, J C Devedjian, V Planat, R Salomon, T Voisin, G Drean, A Couvineau, D Daviaud, C Denis
Journal: Journal of Clinical Investigation (1993)

The subtype and the expression of the alpha 2-adrenergic receptor were investigated in the normal mucosa from human intestine by means of radioligand binding, RNase mapping, and measurement of adenylate cyclase activity. The study of the binding of the alpha 2-adrenergic antagonist, [3H]RX821002, to epithelial cell membranes indicated the existence of a single class of noninteracting sites displaying a high affinity for the radioligand (Kd = 1.1 +/- 0.5 nM). The rank order of potency of antagonists to inhibit [3H]RX821002 binding (RX821002 > yohimbine = rauwolscine > phentolamine approximately idazoxan >> chlorpromazine > prazosin) suggested that the receptor is of the alpha 2A subtype. A conclusion which is confirmed by the fact that only alpha 2C10 transcripts were found in the human intestine mucosa. Competition curves with (-)-norepinephrine demonstrated that 60% of the receptor population exhibited high affinity for agonists. This high-affinity state was abolished by the addition of GTP plus Na+ or by prior treatment of the membranes with pertussis toxin indicating it corresponded to G protein-coupled receptors. [32P]ADP-ribosylation and immunoblotting experiments identified two pertussis toxin-sensitive G proteins corresponding to Gi2 and Gi3. The study of the distribution of the receptor indicated that (a) the proximal colon is the intestine segment exhibiting the highest receptor density and (b) the receptor is predominantly expressed in crypts and is preferentially located in the basolateral membrane of the polarized cell. The distribution of the receptor along the crypt-surface axis of the colon mucosa can be correlated with a higher level of alpha 2C10-specific mRNA and a higher efficiency of UK14304 to inhibit adenylate cyclase in crypt cells.
TCT-281 Usefulness of a systematic "Crossover wire Technique" to improve percutaneous treatment of vascular complications in Transfemoral Transcatheter Aortic Valve Implantation
Authors: Eulogio J. Garcia, Leire Unzue, Rodrigo Teijeiro, Patricia Martin, Carlos Almería, Eduardo García-Jimenez, Rosana Hernandez-Antolin
Journal: Journal of the American College of Cardiology (2013)
Telemedicine Improves Eye Examination Rates in Individuals With Diabetes
Authors: Richard M. Davis, Stanley Fowler, Kim Bellis, Jeffrey Pockl, Vytautas al Pakalnis, Andrew Woldorf
Journal: Diabetes Care (2003)

Diabetic retinopathy is the leading cause of impairment and blindness in the working population (1), yet little is known about eye examination rates in rural and ethnically diverse communities. We examined a model of health care delivery utilizing telemedicine in a primary care setting to improve retinal examination rates in a rural and ethnically diverse community in South Carolina.

A randomized clinical trial was conducted to formally evaluate the effectiveness of a telemedicine retinal screening program (TRSP) compared with usual …
The Bard on the Brain: Understanding the Mind Through the Art of Shakespeare and the Science of Brain Imaging
Authors: H. L. Roth
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
Socioeconomic disability in psoriasis
Authors: E.M. Seidler, A.B. Kimball
Journal: British Journal of Dermatology (2009)

Conflicts of interest: none declared. Sir, Cross‐sectional research demonstrates that patients with psoriasis have a quality of life decrement, regardless of disease severity.1, 2 They may learn to cope with their skin disease over time,3 but they may make decisions in the interim that may have long‐lasting effects on quality of life. We sought to determine key ages at which patients may be vulnerable to social disconnection, thus impeding optimal progression through socioemotional development and decreasing overall quality of life. We conducted a cross‐sectional analysis, in accordance with the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement, using demographic input data and ICD‐9 codes in the Partners Healthcare System Research Patient Data Repository (RPDR) database. The database includes de‐identified, Health Insurance Portability and Accountability Act (HIPAA) compliant medical record information from Massachusetts General, Brigham and Women's, Faulkner, Spaulding Rehabilitation and Newton Wellesley Hospitals. To measure social connectivity we used religious nonaffiliation as a measure of loss of a social network4 and divorce as loss of interpersonal connection. For disconnection in the workplace, we used subscription to Medicaid, as it has been shown to correlate highly to decreased SF‐36 scores.5 Specifically, religious nonaffiliation included 'not affiliated', 'none', 'refused', 'declined' and 'deferred', divorced included 'divorced' and Medicaid included 'Medicaid', 'Free Care' and 'MassHealth'. Rates in patients with psoriasis (ICD‐9 696 and 696.1) were compared with the total population to reduce bias from incomplete data entry, assuming data entry bias would be similar in both groups.
Autonomic function in cholinergic urticaria and atopic eczema
Authors: G.M. MURPHY, S.E. SMITH, S.A. SMITH, M.W. GREAVES
Journal: British Journal of Dermatology (2006)

Autonomic function in patients with cholinergic urticaria and atopic eczema was compared with that in patients with chronic idiopathic urticaria and non-atopic allergic contact dermatitis, respectively. Forty-nine patients were studied. The following specific tests of sympathetic and parasympathetic function were used to assess the integrity of autonomic control: pupillary reflex amplitude in response to pulsed light stimulation and response to topical arecoline hydrobromide (parasympathetic); the speed of pupillary dilatation following a large light reflex (sympathetic); pupillary resting diameter (sympathetic and parasympathetic); sweat gland response to forearm intradermal injection of acetylcholine chloride; and the effect of postural change and deep breathing on blood pressure and heart rate (sinus arrhythmia indicating parasympathetic function). No significant difference in autonomic function was found between the four groups of patients.
The Inevitable Failure of Cost-Containment Strategies
Authors: Bernard L. Albert
Journal: JAMA (1987)

<h3>To the Editor.—</h3> In the SPECIAL COMMUNICATION entitled "The Inevitable Failure of Current Cost-Containment Strategies: Why They Can Provide Only Temporary Relief" by Dr Schwartz,<sup>1</sup>which appeared in the Jan 9,1987, issue of<i>JAMA</i>, the statement is made that, "at any given time, enrollees in HMOs spend less than patients receiving fee-for-service care, chiefly because they avoid 'unnecessary' admissions and thus use an average of 30% fewer hospital days per year than individuals in the fee-for-service sector." There is a very simple reason for this. Health maintenance organizations (HMOs) enroll healthier people and therefore HMO enrollees will use up fewer inpatient days. The HMOs in this area vigorously attempt to sign up full-time employees—in other words, people in good health—and their families. They do not enroll the retired, the disabled, and the unemployed. The HMO enrollees are a selected group that does not reflect the community experience as fee-for-service
Influence of maternal infections with viral agents or <i>Toxoplasma gondii</i> during pregnancy on fetal IgE production
Authors: G. Lilja, M. Forsgren, S. G. O. Johansson, E. Kusoffsky, H. Oman
Journal: Allergy (1997)

The importance of maternal infections with Toxoplasma gondii , cytomegalovirus (CMV), Parvovirus B19, respiratory syncytial virus (RSV), and influenza A and B on fetal IgE synthesis was studied in 153 pregnant women. No case of specific IgM activity or viral DNA in cord blood, indicating a congenital infection, was found. From gestational week 15 to delivery, maternal IgG‐Ab seroconversion to Parvovirus B19, RSV, influenza A, or influenza B occurred in 47 women. At delivery, serologic signs of past infection with T. gondii were observed in 29 (19%) women, and the corresponding figure for CMV was 117 (77%). The number of women with positive IgG seroconversion during pregnancy or positive IgG‐Ab activity toward the studied infectious agents at delivery did not differ significantly among infants with an increased (≥1.3 kU/1; n =51) or with an undetectable (&lt;0.1 kU/l; n =102) cord‐blood IgE level. These results show that genetic and other environmental factors probably have a greater influence on fetal IgE synthesis than do maternal infections during pregnancy.
Endoscopic Diathermy in Patients With Cardiac Pacemakers
Authors: A. Veitch, P. Fairclough
Journal: Endoscopy (1998)

Malfunction of cardiac pacemakers related to diathermy in surgical procedures has been reported, but the risks of endoscopic diathermy in pacemaker patients is unknown. The aim of this study was to investigate current practice amongst British gastroenterologists regarding endoscopy in cardiac pacemaker patients.An anonymous postal questionnaire survey of 634 members of the Endoscopy section of the British Society of Gastroenterology was conducted.410/634 (65%) replied. Respondents conducted 59270 endoscopic retrograde cholangiopancreatography procedures (ERCPs) and 88544 colonoscopies per year. 77.3% of respondents were aware of the possibility of adverse interactions between diathermy and pacemakers. 74.2% enquired whether a pacemaker was present prior to endoscopy. In cases where patients were known to have pacemakers fitted, 23.9% recorded an electrocardiogram (ECG) prior to endoscopic diathermy, 36.2% conducted ECG monitoring during the procedure, 35.9% consulted a cardiologist or pacemaker technician and 13.4% carried out specific preventative measures. 4.1% of all respondents were aware of instances of pacemaker malfunction having occurred during endoscopic diathermy.Most gastroenterologists surveyed were aware of the possibility of adverse interactions between diathermy and cardiac pacemakers, but few undertook measures to detect or prevent pacemaker malfunction. Endoscopic diathermy in cardiac pacemaker patients, however, appears generally safe, although the endoscopist should be aware of the small chance of an adverse interaction.