tbuckley/cabot-search huggingface dataset:
Inherited and Somatic<i>CD3</i>ζ Mutations in a Patient with T-Cell Deficiency
Authors: Frédéric Rieux-Laucat, Claire Hivroz, Annick Lim, Véronique Mateo, Isabelle Pellier, Françoise Selz, Alain Fischer, Françoise Le Deist
Journal: New England Journal of Medicine (2006)

A four-month-old boy with primary immunodeficiency was found to have a homozygous germ-line mutation of the gene encoding the CD3zeta subunit of the T-cell receptor-CD3 complex. CD3zeta is necessary for the development and function of T cells. Some of the patient's T cells had low levels of the T-cell receptor-CD3 complex and carried the Q70X mutation in both alleles of CD3zeta, whereas other T cells had normal levels of the complex and bore the Q70X mutation on only one allele of CD3zeta, plus one of three heterozygous somatic mutations of CD3zeta on the other allele, allowing expression of poorly functional T-cell receptor-CD3 complexes.
The impact of sirolimus-eluting stents on the outcome of patients with bifurcation lesions
Authors: Kengo Tanabe, Pedro A. Lemos, Chi-hang Lee, Muzaffer Degertekin, Evelyn Regar, Akis C. Arampatzis, Ron T. van Domburg, Pim de Feyter, Willem J. van der Giessen, George Sianos, Pieter C. Smits, Paul Cummins, Arno Ruiter, Francesco Saia, Patrick W. Serruys
Journal: Journal of the American College of Cardiology (2003)
Re: Ethnic Differences in Estrogen Metabolism in Healthy Women
Authors: A. L. Coker, M. M. Crane, R. P. Sticca, D. W. Sepkovic
Journal: JNCI Journal of the National Cancer Institute (1997)

The high incidence of breast cancer observed in young African-American women (7) and the apparent aggressiveness of the disease in this ethnic group (2) might be because of biologic differences, such as genetic susceptibility to environmental factors and/or hormonal levels. We have recently shown (3) that a polymorphism in the CYP1 Al gene, which is involved in estrogen metabolism, is significantly associated with breast cancer in African-American, but not in Caucasian, women. The endogenous metabolism of estrogens is primarily oxidative and involves hydroxylation of the steroid at either C2 (2-0HE1) or C16a (16a-0HEl). While the 2-OHE1 metabolites are essentially devoid of peripheral biologic activity, 16a-0HEl is an estrogen agonist (4,5). There is evidence of an inverse association between the 2-OHEl/16a-OHEl metabolite ratio and breast cancer risk (6). We present here the basal urinary estrogen metabolite ratio (as measured by an enzyme-linked immunosorbent assay method) in 33 healthy women aged 18-73 years (7). Women taking oral contraceptives or who were pregnant or lactating were excluded. African-American women had significantly lower 2-OHEl/16a-OHEl urinary metabolite ratios than did Caucasian women (Table 1). No effect of age, weight, smoking status, or CYP1A1 genotype was observed. The observed differences in the estrogen metabolite ratio between CauTable 1. Base-line ratios of urinary estrogen metabolites (2-OHE1/16a-OHE 1) according to ethnicity*
The Electrocardiogram in Tricuspid Atresia and Pulmonary Atresia with Intact Ventricular Septum
Authors: RAUL GAMBOA, WELTON M. GERSONY, ALEXANDER S. NADAS
Journal: Circulation (1966)

Electrocardiograms were studied in 37 patients with tricuspid atresia and in 20 with pulmonary atresia and intact ventricular septum. The results were correlated with angiocardiographic findings and postmortem examinations. Differential features were as follows: 1. Biatrial hypertrophy with characteristic P "tricuspidale" was noted in 81% of the electrocardiograms in patients with tricuspid atresia, whereas this pattern was seen in only two infants with pulmonary atresia and intact ventricular septum. 2. In tricuspid atresia, left axis deviation was usually directed posteriorly; however, anmal or right axis deviation was present in seven cases, six of whom were type 2C and the seventh, type 1A. In every case the horizontal QRS axis was oriented posteriorly. By contrast, in patients with pulmonary atresia there were no instances of left axis deviation in the frontal plane. Normal frontal plane axis was present in 12 patients, all of whom were type I; right axis deviation was evident in eight patients including the three infants with type II deformity. The horizontal QRS axis was usually directed posteriorly; however, anterior orientation occurred in several patients. 3. A typical feature of the vectorcardiogram in patients with tricuspid atresia was the increased anterior magnitude of the initial forces followed by a sharp posterior shift. The initial forces in patients with pulmonary atresia were not characteristic. 4. The electrocardiographic features in patients with tricuspid atresia and normal position of the great vessels showed decreased right ventricular potentials consistent with true hypoplasia of the right ventricle, but in patients with pulmonary atresia similar lack of right ventricular potentials could be correlated with decreased right ventricular cavity, whereas the ventricular wall was actually hypertrophied.
TREATMENT OF VARICOSE ULCERS
Authors: P. M. Deville
Journal: BMJ (1930)

VARICOSE ullcer' iS thle commlllonIest, anid one of the most illiportant, conlilications of varicosity of the veins.Of all tlhe cases of varicose veilns or of tlieir sequielae Ireesent- inlg thenmselves at the Royal Water loo Hospital it occur's in about 22 p-er cent., btut this figuire is miiuch higher than tlhe ti-ne incidence of ulceration, as a large numuber of patients do not seek treatmenit iulntil ulceration occuIrs.it scems commonest in the working classes, and for this reasoni aminbuilator-y treatmenit if suitaible to the particulair case- is to he p;eferre(l to all others.In the treatimniit of the coiilitioni it is useful to distin- guish five types; these will be dealt with in order below.Ulcers witlh Visible Varicose Veins UTiaccotompanied by Deep Th rotaibosis.Local treatmuent to the ulcerated area will generally rc -tult in healinig of a temiiporary ii.atiire, as unfless the actual cauise is (lealt witll there will always be a tendency for the area to br-eak dow-n a(ain, or for freslh ulceratio;l to ensuie elsewltere in the leg,.In or der to obtain a perianeii:et (clre tlievaieose veilns, whieh imiipede the returni of b)loo1( and lead to cong-cstion r-pa'emd inutrition, anid ulceration, should be sclerlosed.It is not piroposed
The Revised Diagnostic and Statistical Manual of the American Psychiatric Association
Authors: BASIL JACKSON
Journal: American Journal of Psychiatry (1970)

One of the outstanding inadequacies of DSM-II, according to the author, is the lack of specificity in the definition of terms. For example, there is no definition of syndrome, symptom, or symptom complex, although the first two of these are frequently used in the taxonomy itself. The notion of "neurosis" as a disease entity per se will raise issue with many clinicians as it appears to be covertly based on unsubstantiated psychodynamic assumptions. Also, the section on psychiatric disorders of childhood leaves much to be desired. He attempts to formulate an alternate system and to define commonly used terms with a greater degree of precision.
When a healthy diet turns deadly
Authors: Steven D Zumbrun, Angela R Melton-Celsa, Alison D O’Brien
Journal: Gut Microbes (2013)

The health benefits of a high fiber diet (HFD) result in part from the action of metabolic end products made by gut commensals on the host epithelium. Butyrate is one such beneficial metabolite; however, butyrate paradoxically enhances the capacity of Escherichia coli-produced Shiga toxin type 2 (Stx2) to kill tissue culture cells. We recently showed that mice fed an HFD exhibited increased butyrate in gut contents and had an altered intestinal microbiota with reduced numbers of Escherichia species. Furthermore, mice fed an HFD and infected with Stx-producing E. coli (STEC) were colonized to a higher degree, lost more weight and succumbed to infection at greater rates compared with STEC-infected low fiber diet animals. The HFD animals showed higher levels of the Stx receptor globotriaocylceramide (Gb3) in both the gut and kidneys. We speculate that an HFD that leads to increased intestinal butyrate and Gb3 in the intestines and kidneys may explain the higher rate of the hemolytic uremic syndrome in females over males.
Treatment of Painful Diabetic Neuropathy With Trazodone
Authors: R. C. Khurana
Journal: JAMA (1983)

<h3>To the Editor.—</h3> Since the first report of treatment of painful diabetic neuropathy with amitriptyline hydrochloride and fluphenazine hydrochloride in seven patients by Davis et al inThe Journal(1977;238:2291), the use of tricyclic antidepressants with or without combination with phenothiazines has become widespread and is effective in most patients. The pain relief is thought to be caused by increased cortical inhibition of sensory input rather than mood alteration because of small dosages and rapid onset of action. In our practice, the effect has been most prominent when both drugs were used in combination. We have recently noticed a dramatic relief in pain and numbness of diabetic neuropathy in five of six patients by the use of trazodone hydrochloride (Desyrel) given alone in a dosage of 100 mg/day in divided doses. In the sixth patient, fluphenazine had to be added to the program. Trazodone is an antidepressant chemically unrelated to
Presence and distribution of carcinoembryonic antigen and lectin-binding sites in benign apocrine sweat gland tumours
Authors: K. TAMAKI, M. FURUE, A. MATSUKAWA, K. OHARA, M. MIZOGUCHI, H. HINO
Journal: British Journal of Dermatology (1985)

The presence and distribution of carcinoembryonic antigen (CEA) and lectin-binding sites in benign apocrine sweat gland tumours was investigated using immunoperoxidase and immunofluorescent techniques respectively. CEA was present in apocrine hidrocystoma, hidradenoma papilliferum, and syringocystadenoma papilliferum. The distribution pattern of CEA was indistinguishable in each of the three types of tumour. The distribution of lectin-binding sites was similar in all cases of a given type of neoplasm, and the staining patterns were similar but not identical in hidradenoma papilliferum and syringocystadenoma papilliferum. However, the distribution of lectin-binding sites in apocrine hidrocystoma was different. These results could be useful in elucidating the nature of the cells of origin of benign apocrine sweat gland tumours and providing a basis for their classification.
Identification and characterization of autoreactive T cell responses to bullous pemphigoid antigen 2 in patients and healthy controls.
Authors: L Büdinger, L Borradori, C Yee, R Eming, S Ferencik, H Grosse-Wilde, H F Merk, K Yancey, M Hertl
Journal: Journal of Clinical Investigation (1998)

Antibodies against the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) are thought to play a key role in the pathogenesis of bullous pemphigoid (BP), the most frequent autoimmune bullous disease of the skin. Autoreactive T cell responses to BPAG2 were investigated in 16 BP patients and 24 healthy controls by coculture of PBMC with two recombinant BPAG2 proteins (extracellular domain of BPAG2). Primary in vitro T cell responses to BPAG2 were observed in 10/12 BP patients expressing the BP-associated HLA-DQB1*0301 allele and 8/10 DQB1*0301 positive healthy individuals. DQB1*0301 also restricted three autoreactive T cell lines from two BP patients and a healthy donor. In contrast, PBMC from 14 normal patients carrying HLA class II alleles other than DQB1*0301 were not stimulated by BPAG2. Autoreactive BPAG2-specific CD4(+) T cell lines and clones from five BP patients produced both Th1 and Th2 cytokines, whereas three autoreactive T cell lines from three DQB1*0301 positive normal patients produced exclusively IFN-gamma. The absence of BPAG2-specific Th2 cells in healthy individuals strongly suggests that autoreactive Th2 responses to BPAG2 are restricted to BP patients and may thus be critical in the pathogenesis of BP.
Pacemaker Reuse
Authors: Timir S. Baman, James N. Kirkpatrick, Joshua Romero, Lindsey Gakenheimer, Al Romero, David C. Lange, Rachel Nosowsky, Kay Fuller, Eric O. Sison, Rogelio V. Tangco, Nelson S. Abelardo, George Samson, Patricia Sovitch, Christian E. Machado, Stephen R. Kemp, Kara Morgenstern, Edward B. Goldman, Hakan Oral, Kim A. Eagle
Journal: Circulation (2010)
Maternal obesity and diabetes are linked to children's autism and similar disorders
Authors: J. H. Tanne
Journal: BMJ (2012)

Children born to mothers who had metabolic conditions such as diabetes, hypertension, and obesity during pregnancy were more likely to have autism spectrum disorders, according to a population based, case-control study of children born in California.

Nearly 60% of US women of childbearing age are overweight, a third are obese, and 16% have metabolic syndrome, says the paper, published in Pediatrics (doi:10.1542/peds.2011-2583). Recent studies show that 1.1% of US pregnancies are complicated by chronic hypertension. In California 1.3% of pregnant women had type 2 diabetes and another 7.4% had gestational diabetes.

These conditions “may be associated with neurodevelopmental problems …
Differences in durations of stay for surgery in the NHS and private sector in England and Wales.
Authors: B T Williams, J P Nicholl, K J Thomas, J Knowelden
Journal: BMJ (1985)

Median durations of stay in England and Wales for eight "marker" operations were consistently shorter for patients in pay beds in the National Health Service than for patients in independent acute hospitals or public sector beds. This pattern was seen for both preoperative and postoperative stay and among specific age groups. Differential use of other hospitals for part of the period of care was not a factor, except for patients having hip replacement operations treated in NHS pay beds, one in seven of whom appeared to transfer to public sector care postoperatively. These findings suggest that there is scope for a possible further reduction in durations of stay in public sector beds and, within the private sector, for an assessment of whether spells in independent hospitals need be longer than in NHS pay beds.
Constrictive Pericarditis in Association with Rheumatoid Arthritis
Authors: O. S. Tubbs, P. R. H. Slade, M. Turner-Warwick
Journal: Thorax (1964)

Constrictive pericarditis has been regarded as almost invariably tuberculous in origin; in 1948 Andrews, Pickering, and Sellors stated, 'In Great Britain most, perhaps all, of the cases of constric- tive pericarditis are due to antecedent acute tuberculous pericarditis'.With the decline in the prevalence of tuberculosis, other causes of constrictive pericarditis may assume greater importance.Recently, Connolly and Burchell (1961) and Robertson and Arnold (1962) have drawn attention to the occurrence of constrictive pericarditis following acute non-specific (possibly virus) types of pericarditis.A few cases have been reported of constrictive pericarditis in association with rheumatoid states (McMurray, Cayer, and Cornatzer, 1951 ; Gimlette, 1959; Keith, 1962; Partridge and Duthie, 1963).We report here three further cases of constrictive pericarditis in patients with rheumatoid disease.CASE REPORTS CASE 1 V. P. was aged 31 at the time of her admis- sion to the Brompton Hospital in May, 1960.At the age of 19 she had developed severe arthritis of all joints, and at 23 she suffered from corneal ulcera- tion.At the age of 30 she had a severe staphylococcal chest infection, for which she was admitted to another hospital.About four months after this she developed dyspnoea on exertion and swelling of the ankles.the site of greatest thickening there was, in some places, yellow serous material between the two layers of the pericardium, and the visceral layer was oede- matous and difficult to dissect off the heart.
Are general practitioners ready to prevent the spread of HIV?
Authors: R I G Milne, S M Keen
Journal: BMJ (1988)

General practitioners are excellently placed to assess a person9s risk of being infected with the human immunodeficiency virus (HIV) and to give advice on reducing that risk. Their attitudes to the acquired immune deficiency syndrome (AIDS) and infection with HIV are, however, unknown. A questionnaire survey of 196 general practitioners in East Berkshire Health District was used to assess general practitioners9 readiness to undertake opportunistic health education to prevent the spread of infection with HIV. Altogether 132 replied. Sixty four of them expressed little interest in health education about HIV, and one in six would not dissent from the notion that AIDS could be controlled only by criminalising homosexuality. Only 75 of them had initiated discussions about HIV with patients. Moreover, many underestimated the risks from heterosexual sex while exaggerating the risks from non-sexual contact. Advice from general practitioners if given extensively might reduce the spread of infection with HIV. How best this may be achieved needs to be considered urgently.
Conversion of Nonimmune Cells to Antibody-Forming Cells with an RNA-Extract from the Thymus.
Authors: Edward P. Cohen
Journal: Annals of Internal Medicine (1969)

s1 May 1969Conversion of Nonimmune Cells to Antibody-Forming Cells with an RNA-Extract from the Thymus.Edward P. Cohen, M.D.Edward P. Cohen, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-70-5-1088_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptPreviously, we reported that a ribonucleic acid (RNA) extract from the spleens of immunized mice converted in vitro a small proportion of nonimmune spleen cells to form specific antibody (J. Immun. 95: 583, 1965). Miller and associates (J. Exp. Med. 128: 801, 1968) demonstrated that the cells responsible for antibody formation when thymectomized mice were reconstituted with intact thymocytes originated in the host and were not thymus-derived cells. Control mice not given thymocytes failed to produce antibody. This suggested that a substance was transferred from thymus-derived cells to host cells. To determine if such a mediator might be detected in... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: Edward P. Cohen, M.D.Affiliations: Chicago, Illinois PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 May 1969Volume 70, Issue 5Page: 1088-1088KeywordsAntibody responseCellsRNASpleenThymus ePublished: 1 December 2008 Issue Published: 1 May 1969 PDF downloadLoading ...
The<i>Salmonella</i>Mutagenicity Assay: The Stethoscope of Genetic Toxicology for the 21st Century
Authors: Larry D. Claxton, Gisela de A. Umbuzeiro, David M. DeMarini
Journal: Environmental Health Perspectives (2010)

According to the 2007 National Research Council report Toxicology for the Twenty-First Century, modern methods (e.g., "omics," in vitro assays, high-throughput testing, computational methods) will lead to the emergence of a new approach to toxicology. The Salmonella mammalian microsome mutagenicity assay has been central to the field of genetic toxicology since the 1970s. Here we document the paradigm shifts engendered by the assay, the validation and applications of the assay, and how the assay is a model for future in vitro toxicology assays.We searched PubMed, Scopus, and Web of Knowledge using key words relevant to the Salmonella assay and additional genotoxicity assays.We merged the citations, removing duplicates, and categorized the papers by year and topic.The Salmonella assay led to two paradigm shifts: that some carcinogens were mutagens and that some environmental samples (e.g., air, water, soil, food, combustion emissions) were mutagenic. Although there are > 10,000 publications on the Salmonella assay, covering tens of thousands of agents, data on even more agents probably exist in unpublished form, largely as proprietary studies by industry. The Salmonella assay is a model for the development of 21st century in vitro toxicology assays in terms of the establishment of standard procedures, ability to test various agents, transferability across laboratories, validation and testing, and structure-activity analysis.Similar to a stethoscope as a first-line, inexpensive tool in medicine, the Salmonella assay can serve a similar, indispensable role in the foreseeable future of 21st century toxicology.
An Experimental Model of Sudden Death Due to Low-Energy Chest-Wall Impact (Commotio Cordis)
Authors: Mark S. Link, Paul J. Wang, Natesa G. Pandian, Saroja Bharati, James E. Udelson, Man-Young Lee, Mark A. Vecchiotti, Brian A. VanderBrink, Gianluca Mirra, Barry J. Maron, N.A. Mark Estes
Journal: New England Journal of Medicine (1998)

The syndrome of sudden death due to low-energy trauma to the chest wall (commotio cordis) has been described in young sports participants, but the mechanism is unknown.
1063-64 Predilatation before distal protection device placement is associated with increased procedure-related myocardial infarction: Analysis from the FIRE trial
Authors: Giora Weisz, Campbell Rogers, James Herrmiller, Robert Feldman, Patrick Hall, Robert Haber, Zaki Masud, Patrick Cambier, Ronald P Caputo, Mark Turco, Richard Kovach, Bruce Brodie, Howard C Herrmann, David A Cox, Roxana Mehran, Gregg W Stone
Journal: Journal of the American College of Cardiology (2004)
Novel imatinib-sensitive PDGFRA-activating point mutations in hypereosinophilic syndrome induce growth factor independence and leukemia-like disease
Authors: Christian Elling, Philipp Erben, Christoph Walz, Marie Frickenhaus, Mirle Schemionek, Martin Stehling, Hubert Serve, Nicholas C. P. Cross, Andreas Hochhaus, Wolf-Karsten Hofmann, Wolfgang E. Berdel, Carsten Müller-Tidow, Andreas Reiter, Steffen Koschmieder
Journal: Blood (2011)
On the Inefficacy of Kousso in Some Cases of Taenia
Authors: E. Crisp
Journal: BMJ (1851)

supply of water at all hours, for the use of the inhabitants, surely there is no excuse for any town in England remaining behind London in the promotion of such necessary sanitary measures.With regard to a supply of water, we may add, in the words of the Times, " that it is now a plain and fundamental maxim of sanitary economy, social policy, and good government that the water we use should be no more an article of trade or taxation than the air we breathe or the light we enjoy."Thanks to the exertions of the sanitary reformers we are now promised light-that boon of Heaven-without paying a tax for the use of it.
Popular Medicines: An Illustrated History
Authors: Robert H. Schrimsher
Journal: JAMA (2008)

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