tbuckley/cabot-search huggingface dataset:
The Effect of <i>HFE</i> Genotypes on Measurements of Iron Overload
Authors: James A. Koziol, Vincent J. Felitti, Ernest Beutler
Journal: Annals of Internal Medicine (2002)

Letters15 October 2002The Effect of HFE Genotypes on Measurements of Iron OverloadJames A. Koziol, PhD, Vincent J. Felitti, MD, and Ernest Beutler, MDJames A. Koziol, PhDThe Scripps Research Institute; La Jolla, CA 92037Kaiser Permanente; San Diego, CA 92111The Scripps Research Institute; La Jolla, CA 92037Search for more papers by this author, Vincent J. Felitti, MDThe Scripps Research Institute; La Jolla, CA 92037Kaiser Permanente; San Diego, CA 92111The Scripps Research Institute; La Jolla, CA 92037Search for more papers by this author, and Ernest Beutler, MDThe Scripps Research Institute; La Jolla, CA 92037Kaiser Permanente; San Diego, CA 92111The Scripps Research Institute; La Jolla, CA 92037Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-137-8-200210150-00024 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail TO THE EDITOR:Since the publication of our article on the effect of genotypes on measurements of iron overload (1), we have continued our study. We present data that were gathered up to 5 September 2001 on 153 C282Y/C282Y homozygotes (79 women and 74 men) and on 31 356 white or white–Hispanic persons who were not homozygotes. In the latter group, transferrin saturation values and serum ferritin values, respectively, were available for 15 471 women and 15 204 men and for 15 009 women and 14 821 men. Sensitivities and specificities relating to these cohorts are presented in the accompanying ...Reference1. Beutler E, Felitti V, Gelbart T, Ho N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med. 2000;133:329-37. [PMID: 10979877] LinkGoogle Scholar Author, Article, and Disclosure InformationAffiliations: The Scripps Research Institute; La Jolla, CA 92037Kaiser Permanente; San Diego, CA 92111The Scripps Research Institute; La Jolla, CA 92037 PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoThe Effect of HFE Genotypes on Measurements of Iron Overload in Patients Attending a Health Appraisal Clinic Ernest Beutler , Vincent Felitti , Terri Gelbart , and Ngoc Ho Metrics Cited bySelected Disorders of the Blood and Hematopoietic SystemSelected Disorders of the Blood and Hematopoietic SystemConsensus recommendations for managing asymptomatic persistent non-virus non-alcohol related elevation of aminotransferase levelsHereditary hemochromatosis screening: effect of mutation penetrance and prevalence on cost-effectiveness of testing algorithmsHFE genotype and transferrin saturation in the United States 15 October 2002Volume 137, Issue 8Page: 700-701KeywordsFerritinSpecificity ePublished: 15 October 2002 Issue Published: 15 October 2002 Copyright & PermissionsCopyright © 2002 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...
The V gamma locus of the human T cell receptor gamma gene. Repertoire polymorphism of the first variable gene segment subgroup.
Authors: M P Font, Z Chen, J C Bories, N Duparc, P Loiseau, L Degos, H Cann, D Cohen, J Dausset, F Sigaux
Journal: The Journal of Experimental Medicine (1988)

Southern blot analysis using a genomic probe of the human TCR-gamma chain first variable gene subgroup (V gamma I) was performed on DNA samples from both parents of 36 healthy Caucasian families. Two types of polymorphisms were found in these 72 unrelated DNA samples: three repertoire polymorphisms and two restriction fragment length polymorphisms (RFLP). In all cases, Mendelian inheritance of these polymorphisms was demonstrated. The most frequent repertoire polymorphism consists in the lack of the V gamma 4 and V gamma 5 segments. In 16% of chromosomes, the Eco RI and Taq I restriction fragments corresponding to V gamma 4 and V gamma 5 were lacking, with no additional bands. In these cases, a decrease of 10 kb was observed in the Bam HI fragment containing all V gamma I segments as compared with samples containing V gamma 4-V gamma 5 segments. To better understand this polymorphism, which takes place in a previously incompletely defined region, the central part of the V gamma I region, including the polymorphic V gamma 4-V gamma 5 segments, was cloned. This allowed us to localize precisely the V gamma 5 segment and thus complete the description of the V gamma I region. A striking homology of DNA and deduced amino acid sequences is present between V gamma 2 and V gamma 4 and between V gamma 3 and V gamma 5, much higher than that observed between V gamma 2 and V gamma 3 and between V gamma 4 and V gamma 5. The differences in nucleotide sequence occur mainly in the intron and three hypervariable regions. These results strongly suggest a gene duplication relationship between the segments V gamma 2-V gamma 3 and the segments V gamma 4-V gamma 5. The most frequent RFLP documented in this study is due to the combined absence of the Eco RI and the Taq I sites located in the noncoding region between V gamma 3 and V gamma 4. The haplotypic frequence of this RFLP is 6.9% of the general population. As the gamma/delta receptor may play an important role in immunological response, the biological relevance of the high degree of polymorphism occurring in the V gamma I region, as well as its possible association with some immune disturbances, should be further explored.
Metabolism of testoterone and related steroids in metastatic interstitial cell carcinoma of the testis.
Authors: M B Lipsett, G A Sarfaty, S H Wilson, C W Bardin, L M Fishman
Journal: Journal of Clinical Investigation (1966)

Interstitial cell carcinoma of the testis is a singu- larly rare steroid-producing cancer.Of the seven reported cases (1-7), urinary 17-ketosteroid (17- KS) excretion was high in the four cases in which it was measured.Abelson, Bulaschenko, Trom- mer, and Valdes-Dapena (7) fractionated the uri- nary 17-ketosteriods and corticoids in one recently reported case.There is, however, no comprehen- sive study of either the production of androgens or related steroids by this tumor.We have had the opportunity to study a patient with metastatic interstitial cell carcinoma, and we have examined the androgens and several related steroids.From these data, we have concluded that interstitial cell carcinoma resembles virilizing adrenal carcinoma in its pattern of biosynthesis of C-19 steroids and 21- deoxypregnane analogues.The high testosterone 1
DETECTION OF RECURRENT COLON CANCER BY USING In-111-LABELED ANTIBODY: INITIAL CLINICAL RESULTS WITH B72.3. V.
Authors: V Vijayakumar, M J Blend, R H Seevers, D K Johnson, K E Schnobrich
Journal: Clinical Nuclear Medicine (1992)

Vijayakumar, V; Blend, M J; Seevers, R H; Johnson, D K; Schnobrich, K E Author Information
The brutalised poor of our manufacturing districts
Authors: Jeremy Hugh Baron
Journal: BMJ (2004)

a few days of capsaicin 0.075% treatment. 1Once capsaicin is discontinued, reinnervation occurs, with almost full return of sensation (over six weeks after three weeks of treatment).Most of the trials stated that patients had moderate or severe chronic pain, and some recruited patients only if they were unresponsive to other treatments.For patients with chronic moderate or severe pain, even a small reduction in pain can be beneficial.
Do you believe in God?
Authors: M. Knowles
Journal: BMJ (2000)

EDITOR—Barraclough told an interesting story in his soundings article entitled “Do you believe in God?”1 No patient in nearly 40 years in general practice ever asked me this directly, although no doubt many gathered that the answer would have been no, and some I told when it seemed appropriate and helpful. I had not believed in God since my first (and only) confirmation class at school in London …
Pathology of Influenza.
Authors: W. T. Eckley
Journal: JAMA (1893)

Fort Madison, Iowa, Nov. 19, 1893. <h3>To the Editor:</h3> —In ourJournalfor Nov. 18, 1893, under caption, "Pathology of Influenza," I find an excerpt from the<i>St. Petersburger Medicinische Wochenschrift</i>, in which a painstaking microscopist finds on postmortem,intra-fibrillar hemorrhages invariably unilateral, from which pathologic find he draws the conclusion that the lesions in influenza involve the sympathetic centers. (Journal of the American Medical Association, p. 774, November, 1893). The observation substantiates my anatomico-physiologic deduction as presented in the Iowa State Medical Association in May, 1892. See Transactions of Iowa on page 93. Permit me to inclose reprint and oblige. Very truly,
Interactions Between CD14/IL-13 Genes and Cesarean Section Delivery May Affect the Development of Atopic Dermatitis in a Cocoa Study
Authors: Eun Lee, So-Yeon Lee, Kangmo Ahn, Kyung Won Kim, Youn Ho Shin, Gyeong-shin Lee, Young Ho Jung, Jinho Yu, Ju-Hee Seo, Hyo-Bin Kim, Ji-Won Kwon, Byoung-Ju Kim, Woo Kyung Kim, Dae Jin Song, Gwang Cheon Jang, Jung Yeon Shim, Soo-Young Lee, Soo-Jong Hong
Journal: Journal of Allergy and Clinical Immunology (2013)
Ischiopubic Synchondrosis Normal Finding, Increased Pubic Uptake on Bone Scintigraphy
Authors: RUTH HARDOFF, SARA GIPS
Journal: Clinical Nuclear Medicine (1992)

Ischiopubic synchondrosis is a normal anatomic finding. Ossification of the cartilage of the synchondrosis is variable, both in pattern and velocity. Bilateral fusion of the ischiopubic synchondroses is complete in about 80% of children at 12 years. Swelling of the synchondrosis precedes its closure in most children and can last from 1 to 3 years. Excessive weight bearing on one side may cause ipsilateral swelling and irregular mineralization. This normal variation does not usually cause any symptoms. The differential diagnosis of stress fracture, posttraumatic osteolysis, osteomyelitis, and a neoplastic lesion should be considered; however, the normal variant is more common. The authors present a child who suffered from ischial pain. Swelling of the ischiopubic synchondrosis was noted. Bone scintigraphy demonstrated an increased uptake in the same area. This finding should be recognized as a normal variation in children under 12 years of age.
Bacteriaemia Associated with Endoscopic Sclerotherapy of Oesophageal Varices
Authors: T. Sauerbruch, J. Holl, G. Ruckdeschel, J. Förstl, M. Weinzierl
Journal: Endoscopy (1985)

Studies on the incidence of bacteraemia following endoscopic injection sclerotherapy produce equivocal results. Accordingly, we performed a prospective study in 24 patients who underwent a total of 40 sclerotherapy sessions. Blood was drawn before, during, and 5 minutes, 30 minutes, 3 hours and 24 hours after sclerotherapy. Transient bacteraemia (mostly during and 5 minutes after sclerotherapy) was detected in 21 (53%) procedures. The bacteraemic events bore no relation to febrile episodes. The most frequently isolated microorganisms were alpha-haemolytic Streptococcus spp. and coagulase-negative Staphylococcus spp.. We conclude that injection sclerotherapy is associated with a high incidence of bacteraemia which, however, in most cases is transient and does not lead to septic disease.
Co-localization of transforming growth factor beta 2 with alpha 1(I) procollagen mRNA in tissue sections of patients with systemic sclerosis.
Authors: M Kulozik, A Hogg, B Lankat-Buttgereit, T Krieg
Journal: Journal of Clinical Investigation (1990)

The role of transforming growth factor beta 2 (TGF-beta 2) in the pathogenesis of systemic sclerosis (SSc) was investigated by in situ hybridization of skin biopsies from six patients with SSc. Two patients with acute systemic lupus erythematosis (SLE), one with acute dermatomyositis (DM), and three healthy individuals were used as controls. TGF-beta 2 mRNA was found to be co-localized with pro alpha 1(I) collagen expression around dermal blood vessels in all patients with the inflammatory stage of SSc, whereas there was no expression of either gene in the dermis of patients in the fibrotic stage, the SLE patients or the normal controls. These findings provide evidence that TGF-beta 2 released by inflammatory cells around blood vessels may play a role in mediating the collagen gene disregulation in fibrosis.
"Epidemic!" Exhibits Infectious Disease World
Authors: Marsha F. Goldsmith
Journal: JAMA (1999)

Worms are in the Big Apple. And bacteria and viruses and all sorts of organisms and other factors related to disease. For the next 6 months (until September 6), they can be found in "Epidemic! The World of Infectious Disease," a new exhibit at the American Museum of Natural History in New York City.
CCR5Δ32 mutation, Mycoplasma pneumoniae infection, and asthma
Authors: Ildikó Ungvári, Gergely Tölgyesi, Ágnes F. Semsei, Adrienne Nagy, Károly Radosits, Márton Keszei, Gergely T. Kozma, András Falus, Csaba Szalai
Journal: Journal of Allergy and Clinical Immunology (2007)
Management of Bacterial Shock-Reply
Authors: Max Harry Weil
Journal: JAMA (1976)

In Reply.—  Dr Minuth refers to alternative methods for estimating doses of gentamicin based on measurements of serum levels of the aminoglycoside. Serum levels do, in fact, represent an entirely reasonable basis for estimating doses. However, in the anecdote of a personal case that he cites in support of his argument, no data of this type are supplied.  With reference to recommendations made by my late colleague, Dr Shubin, and me, we anticipated that serum creatinine would be measured on a daily basis and that intervals between doses would be adjusted accordingly. If there were substantial improvement in creatinine clearance and a corresponding reduction in serum creatinine, the interval between doses would be shortened and the total amount of gentamicin administered would be correspondingly increased.
Metabolic and functional consequences of inhibiting adenosine deaminase during renal ischemia in rats.
Authors: M E Stromski, A van Waarde, M J Avison, G Thulin, K M Gaudio, M Kashgarian, R G Shulman, N J Siegel
Journal: Journal of Clinical Investigation (1988)

The concentrations of renal ATP have been measured by 31P-nuclear magnetic resonance (NMR) before, during, and after bilateral renal artery occlusion. Using in vivo NMR, the initial postischemic recovery of ATP increased with the magnitude of the residual nucleotide pool at the end of ischemia. ATP levels after 120 min of reflow correlated with functional recovery at 24 h. In the present study the effect of blocking the degradation of ATP during ischemia upon the postischemic restoration of ATP was investigated. Inhibition of adenosine deaminase by 80% with the tight-binding inhibitor 2'-deoxycoformycin led to a 20% increase in the residual adenine nucleotide pool. This increased the ATP initial recovery after 45 min of ischemia from 52% (in controls) to 62% (in the treated animals), as compared to the basal levels. The inhibition also caused an accelerated postischemic restoration of cellular ATP so that at 120 min it was 83% in treated rats vs. 63% in untreated animals. There was a corresponding improvement in the functional recovery from the insult (increase of 33% in inulin clearance 24 h after the injury). Inhibition of adenosine deaminase during ischemia results in a injury similar to that seen after a shorter period of insult.
Our Neglect of General Internists and Practitioners in Teaching Hospitals
Authors: Samuel A. Levine
Journal: JAMA (1964)

THE MEDICAL SCHOOLS of this country and their affiliated teaching hospitals have been taken over by the so-called full-time members of the faculty. This has been inevitable, necessary, and desirable. Before the turn of this century the professors of biochemistry, physiology, pharmacology, and other faculty members often practiced medicine in addition to giving lectures on respective subjects. Most of their activities were confined to teaching and research when they became fulltime department heads. However, those attached to the clinical departments were also busily engaged in seeing private patients in their offices, in the patients' homes, and also doing consultation work with other physicians. Gradually professors in the clinical departments became intramural men and confined all or most of their work to the teaching hospitals. This last step became necessary because of the growing administrative duties that developed in connection with being the head of a department in a progressive medical
Sustaining medical education is difficult in poor countries
Authors: J. Yikona
Journal: BMJ (2003)

EDITOR—Broadhead and Muula describe the problems and achievements in creating a medical school for Malawi from scratch.1 The hailed success in its first 20 years since inception mirrors most medical schools in sub-Saharan Africa. The bigger challenge is sustaining the future of the school. The reasons for failure of most medical schools in sub-Saharan Africa must now …
Adenovirus-based Prime-boost Immunization for Rapid Vaccination Against Anthrax
Authors: Michael J McConnell, Philip C Hanna, Michael J Imperiale
Journal: Molecular Therapy (2006)

Prime-boost vaccination using plasmid DNA and replication-defective adenovirus vectors has emerged as a highly effective strategy for vaccinating against viral pathogens. However, its ability to provide protection against bacterial disease has never been assessed. Here we evaluate prime-boost vaccination approaches for immunizing against anthrax. We show that mice primed with DNA and boosted with an adenovirus vector, both expressing domain four of Bacillus anthracis protective antigen (PA), have higher antibody and toxin-neutralizing titers than mice immunized with either single modality alone. DNA-primed/adenovirus-boosted mice also had significantly higher antibody and toxin-neutralizing titers than mice immunized with Anthrax Vaccine Adsorbed. High levels of antigen-specific interferon-gamma-secreting cells were present in vaccinated mice indicating that a cell-mediated immune response had also been stimulated. Both DNA-primed/adenovirus-boosted and adenovirus-primed/adenovirus-boosted mice were fully protected from Sterne strain spore challenge. We also show that a single injection with an adenovirus vector-expressing domain four of PA can provide partial protection from spore challenge 2 weeks after immunization and full protection 3 weeks after immunization. These results demonstrate that adenovirus-based prime-boost vaccination can provide rapid protection from anthrax and that this approach may be an effective strategy for immunizing against bacterial as well as viral pathogens.
Effect of field stimulation on cellular repolarization in rabbit myocardium. Implications for reentry induction.
Authors: S B Knisley, W M Smith, R E Ideker
Journal: Circulation Research (1992)

We have investigated the effects of electric field stimulation on membrane repolarization in rabbit papillary muscles and assessed the consequences of these effects for the dispersion of intracellular potentials and the production of a propagation wave front or unidirectional block in relatively refractory tissue. The stimuli studied had electric field strength of 0.25-14 V/cm, duration of 2 msec, and field orientation along or across the myocardial fibers. The field strengths to excite the muscles in diastole were 0.68 or 1.23 V/cm for stimuli oriented along or across the fibers, respectively (p less than 0.01, along versus across). A 2.5-V/cm stimulus given near the end of the action potential (AP) produced either no response or, after increasing the stimulus delay only 2-3 msec, a full response with almost no AP durations that were intermediate. For stimulation along and across the fibers, respectively, given at 70% of the AP duration, a 4-V/cm stimulus produced AP prolongation (measured at 90% repolarization) of 20% and 4% (p less than 0.05), an 8-V/cm stimulus produced AP prolongation of 36% and 20% (p less than 0.05), and a 14-V/cm stimulus produced AP prolongation of 36% and 30% (p = NS). For either orientation, AP prolongation by stimuli of 8 V/cm or 14 V/cm increased gradually as the stimulus delay was increased. The different effects in relatively refractory tissue of stimuli of 2.5 V/cm compared with 8 V/cm can explain the propagation wave front and block that occur with electrically induced functional reentry in the heart.(ABSTRACT TRUNCATED AT 250 WORDS)
Emergence of object representations in young infants: Corroborating findings and a challenge for the feature creation approach
Authors: Paul C. Quinn
Journal: Behavioral and Brain Sciences (1998)

Arguments for feature creation receive support from studies of young infants forming category representations from perceptual experience. A challenge for Schyns et al. will be to determine how a feature creation system might interface with a perceptual system that appears constrained to follow organizational principles that specify how edge segments should be grouped into functional units of coherent object representations.
Microcystic macular oedema, thickness of the inner nuclear layer of the retina, and disease characteristics in multiple sclerosis: a retrospective study
Authors: Shiv Saidha, Elias S Sotirchos, Mohamed A Ibrahim, Ciprian M Crainiceanu, Jeffrey M Gelfand, Yasir J Sepah, John N Ratchford, Jiwon Oh, Michaela A Seigo, Scott D Newsome, Laura J Balcer, Elliot M Frohman, Ari J Green, Quan D Nguyen, Peter A Calabresi
Journal: The Lancet Neurology (2012)
Decreased sialidase activity in alveolar macrophages of guinea pigs exposed to coal mine dust.
Authors: H Terzidis-Trabelsi, J P Lefèvre, J Bignon, C R Lambré
Journal: Environmental Health Perspectives (1992)

The origin of immune dysfunctions that are observed in pneumoconiotic miners still remains unknown. There is evidence that the carbohydrate moiety of membrane glycoconjugates is of primary importance in many functions of immunocompetent cells. The glycosylation, and especially the sialylation level of membrane components of various lymphocyte and macrophage subsets, vary depending on the state of cellular differentiation and activation. Sialidases, which may regulate the amount of sialic acids exposed on the cell membrane, can thus be considered as immunoregulatory enzymes. In this report, the sialidase activity has been measured in alveolar macrophages (AM) and in cell-free bronchoalveolar lavage fluid (BALF) from guinea pigs exposed for 4 months to coal mine dust at a concentration of 300 mg/m3. The samples were collected by bronchoalveolar lavage 2 months after cessation of exposure. The sialidase activity in the cell-free fluid and in the purified alveolar macrophages showed a 10-fold decrease (p less than 0.001). Kinetic parameters of the enzyme such as Km and optimum pH did not change. This changed activity was specific for sialidase, as two other lysosomal glycosidases, beta-galactosidase and N-acetylglucosaminidase, showed unchanged activities. These results suggest the possibility that, by inducing a decreased sialidase activity, exposure to coal mine dust may lead to a modified expression of AM membrane-associated sialic acids giving rise to altered immune functions (i. e., phagocytosis, antigen processing, response to cytokines, etc.).
Good Workers May Get Bad Breaks on Health
Authors: Joan Stephenson
Journal: JAMA (1995)

FOR MANY immigrants and refugees who come to the United States, the hard work they hope will enable them to forge a good life all too often puts them at risk of workplace-related illness and injury. Those who have scant education and lack work and language skills often have little choice other than jobs that are low paying, hazardous, or both. They sew for long hours in garment sweatshops, work with hazardous materials such as asbestos or toxic chemicals without adequate protection, or labor in settings where they are targets of violent crime. Although health and safety regulations exist that offer protection, many immigrant and refugee workers are unaware of their existence or are too fearful of reprisals from employers or deportation to alert the authorities when their employers ignore them. And when these workers do become sick or injured, their problems are often compounded by a lack of access