tbuckley/cabot-search huggingface dataset:
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue
Authors: Y-G. Zuo, Y. Xu, B. Wang, Y-H. Liu, T. Qu, K. Fang, M.G. Ho
Journal: British Journal of Dermatology (2007)

Conflicts of interest: none declared. Sir, Multiple familial trichoepithelioma (MFT; OMIM 601606) is an autosomal dominant skin disorder. The gene CYLD mapped to locus 16q12–q13 has been shown to be responsible for MFT.1 To date, eight germline mutations have been described in the CYLD gene among eight families who have MFT.1–5 MFT is considered to be a syndrome in which tumours develop from undifferentiated germ cells of the folliculosebaceous–apocrine unit.6 Familial cylindromatosis (FC) and MFT were originally described as phenotypic variations caused by mutations of the same gene.7 Massoumi et al.8 reported that the CYLD protein is dramatically downregulated in the tissue of FC, but is prominently expressed in the inner root sheath of hair follicles from normal human scalp. However, the role that CYLD plays in the growth and development of an MFT tumour has yet to be elucidated. A family of three generations with MFT that includes five affected and 15 unaffected individuals was identified at the Dermatology Clinic at Peking Union Medical College (PUMC) Hospital in January 2005. The patient is a 24‐year‐old female who resides in Beijing. When she was 5 years old, she began to develop on her face numerous firm, skin‐coloured, dome‐shaped papules and nodules, 0·2–0·5 cm in diameter. Other affected individuals among her relatives have similar skin lesions, which characteristically slowly increased both in number and size until the individuals were about 30 years of age. Skin biopsies were taken from the facial lesions of the proband’s father for histopathological examination. Clinical and histological features confirmed the diagnosis of MFT. After obtaining informed consent and notifying patients of their right to confidentiality and the voluntary nature of the study, we collected blood specimens from four patients and from three normal members of the family.
P366The time-course of cardiac and pulmonary matrix metalloproteinase-2 and -9 activities after chronic cigarette smoke exposure in mice
Authors: K Kiss, P Bencsik, ZV Varga, I Szitter, P Ferdinandy, ZS Helyes
Journal: Cardiovascular Research (2014)

Background: Gelatinase-type matrix metalloproteinases (MMP-2 and -9) have crucial role in inflammatory diseases, e.g. chronic obstructive pulmonary disease as well as in cardiovascular pathology. It is known that chronic smoke exposure increases MMP-2 and -9 activities in the lung. However, the smoke-induced alterations in MMP-2 and -9 activities in the heart and the time-course of their pulmonary and myocardial activity during chronic smoke exposure have not been examined.
Single-chain Antibodies to the EWS NH2 Terminus Structurally Discriminate between Intact and Chimeric EWS in Ewing's Sarcoma and Interfere with the Transcriptional Activity of EWS <i>In vivo</i>
Authors: Dave N.T. Aryee, Michael Kreppel, Radostina Bachmaier, Aykut Üren, Karin Muehlbacher, Stefan Wagner, Heimo Breiteneder, Jozef Ban, Jeffrey A. Toretsky, Heinrich Kovar
Journal: Cancer Research (2006)

Abstract The chimeric protein EWS-FLI1, arising from chromosomal translocation in Ewing's sarcoma family tumors (ESFT), acts as an aberrant tumorigenic transcription factor. The transforming activity of EWS-FLI1 minimally requires an ETS DNA binding domain and the EWS NH2 terminus. Proteins interacting with the EWS portion differ between germ-line and chimeric EWS despite their sharing identical sequences in this domain. We explored the use of the phage display technology to isolate anti-EWS-FLI1 specific single-chain antibody fragments (scFvs). Using recombinant EWS-FLI1 as bait, 16 independent specific antibody clones were isolated from combinatorial phage display libraries, of which six were characterized in detail. Despite differing in their complementarity-determining region sequences, all six scFvs bound to the same epitope spanning residues 51 to 75 within the shared minimal transforming EWS domain. Whereas all six scFvs bound efficiently to cellular EWS, reactivity with ESFT-expressed EWS-FLI1 was weak and restricted to denatured protein. One scFv, scFv-I85, when expressed as an intrabody, efficiently suppressed EWS-dependent coactivation of hepatocyte nuclear factor 4– and OCT4-mediated transcription in vivo but no effect on known EWS-FLI1 target genes was observed. These data suggest that a prominent EWS epitope exposed on recombinant EWS-FLI1 structurally differs between germ-line and chimeric EWS in mammalian cells and that this region is functionally involved in the transcriptional activity of EWS. Thus, we have generated a tool that will prove useful to specifically differentiate between normal and rearranged EWS in functional studies. (Cancer Res 2006; 66(20): 9862-9)
Testifying in Court: A Guide for Physicians
Authors: Miles J. Gullickson
Journal: JAMA (1985)

This compact slender volume (reading time: two hours), written and updated by an experienced trial defense lawyer, aided by a capable editor on the Medical Economics Books staff, and with a complimentary foreword by the most widely known contemporary plaintiffs' lawyer, should prove uniquely valuable to physicians contemplating a possible court appearance. Using the classification of medical witness types employed by Belli in the foreword, the advice so concisely expressed in this book is of less import to the "fact" witness than it will be to the "opinion" or expert witness and the doctor-defendant in a medical malpractice suit. For the two latter groups, excepting those with extensive courtroom experience, it is suggested that an effective method of preparation for giving medical testimony would be (1) to spend two hours with this book when the possibility of need for one's medical testimony becomes known and (2) to reserve another hour
Sclerodermalike Esophageal Disease in Children of Mothers With Silicone Breast Implants
Authors: Ralph R. Cook
Journal: JAMA (1994)

<h3>To the Editor.</h3> —In a recent article, Drs Levine and Ilowite<sup>1</sup>concluded "a relationship appears to exist between breast-feeding by mothers with silicone implants and abnormal esophageal motility." The conclusion was based on 11 children who were born to women who had breast implants; eight had been breast-fed and three bottle-fed. The authors identified 20 controls and specifically eliminated three who demonstrated a type of esophageal dysmotility, the outcome of interest. This exclusion was reportedly based on the manometric findings, indicating the selection was made after the key data were collected. Furthermore, the authors started with "67 consecutive children born to mothers with silicone breast implants... who were referred" to them presumptively in an unbiased fashion. The 67 were winnowed down to 11, an 84% attrition rate. Among the controls, after they had eliminated those they didn't like, there was absolutely no attrition. This study could be dismissed as
Essential Role of TRPC6 Channels in G2/M Phase Transition and Development of Human Glioma
Authors: Xia Ding, Zhuohao He, Kechun Zhou, Ju Cheng, Hailan Yao, Dongliang Lu, Rong Cai, Yening Jin, Bin Dong, Yinghui Xu, Yizheng Wang
Journal: JNCI Journal of the National Cancer Institute (2010)

Patients with glioblastoma multiforme, the most aggressive form of glioma, have a median survival of approximately 12 months. Calcium (Ca(2+)) signaling plays an important role in cell proliferation, and some members of the Ca(2+)-permeable transient receptor potential canonical (TRPC) family of channel proteins have demonstrated a role in the proliferation of many types of cancer cells. In this study, we investigated the role of TRPC6 in cell cycle progression and in the development of human glioma.TRPC6 protein and mRNA expression were assessed in glioma (n = 33) and normal (n = 17) brain tissues from patients and in human glioma cell lines U251, U87, and T98G. Activation of TRPC6 channels was tested by platelet-derived growth factor-induced Ca(2+) imaging. The effect of inhibiting TRPC6 activity or expression using the dominant-negative mutant TRPC6 (DNC6) or RNA interference, respectively, was tested on cell growth, cell cycle progression, radiosensitization of glioma cells, and development of xenografted human gliomas in a mouse model. The green fluorescent protein (GFP) and wild-type TRPC6 (WTC6) were used as controls. Survival of mice bearing xenografted tumors in the GFP, DNC6, and WTC6 groups (n = 13, 15, and 13, respectively) was compared using Kaplan-Meier analysis. All statistical tests were two-sided.Functional TRPC6 was overexpressed in human glioma cells. Inhibition of TRPC6 activity or expression attenuated the increase in intracellular Ca(2+) by platelet-derived growth factor, suppressed cell growth and clonogenic ability, induced cell cycle arrest at the G2/M phase, and enhanced the antiproliferative effect of ionizing radiation. Cyclin-dependent kinase 1 activation and cell division cycle 25 homolog C expression regulated the cell cycle arrest. Inhibition of TRPC6 activity also reduced tumor volume in a subcutaneous mouse model of xenografted human tumors (P = .014 vs GFP; P < .001 vs WTC6) and increased mean survival in mice in an intracranial model (P < .001 vs GFP or WTC6).In this preclinical model, TRPC6 channels were essential for glioma development via regulation of G2/M phase transition. This study suggests that TRPC6 might be a new target for therapeutic intervention of human glioma.
Remarkable Instance of the Hereditary Transmission of a Congenital Deformity.
Authors: W. E. Shaw
Journal: JAMA (1900)

Cincinnati, Ohio, Feb. 20, 1900. <h3>To the Editor:</h3> —Mr. Archdall Reed, at the last meeting of the British Medical Association, read a paper, in which occurs this sentence: "Though the whole plant and animal kingdom have been ransacked, no single instance of the transmission of characteristics has yet been proved." This paper was crticised by an editorial inThe Journalof Nov. 18, 1899, p. 1290, in which you referred to Brown-Séquard's and Westphal's experiments in traumatic epilepsy in guinea-pigs and the shorter and occasionally absent prepuce in Jewish boys, etc., which is taken<i>cum grano salis</i>by Lawrence Irwell, M.A., B.C.L., who takes up the question against you, in the<i>Medical News</i>of Feb. 17, 1900. It is not my purpose to enter the controversy, but I wish to give a little historical sketch of a family of biped dogs that has been under my observation for about six
A penny is your thoughts? Reflections on a Wittgensteinian proposal
Authors: Bryan W. Sokol, Christopher E. Lalonde
Journal: Behavioral and Brain Sciences (2004)

Although in fundamental agreement with Carpendale &amp; Lewis's (C&amp;L's) position, we discuss a potential source of confusion regarding the socially constituted nature of mental states. Drawing from recent work by Kusch (1997; 1999), we argue, more specifically, that mental states are instances of “artificial kinds,” and so, stand between the more common classificatory extremes of “the natural” and “the social.”
IVIG – mechanisms of action
Authors: H. U. Simon, P. J. Späth
Journal: Allergy (2003)

Intravenous immunoglobulin (IVIG) preparations are fractionated from a plasma pool of several thousand donors. IVIG contain immune antibodies and physiologic autoantibodies. Immune antibodies reflect the immunologic experience of the donor population. This fraction of IVIG preparations is useful for replacement therapy and passive immunisation. Natural autoantibodies are able to react with the immune system of the recipient of IVIG and are suggested to help to correct immune deregulation. Immunomodulatory and anti‐inflammatory properties are based on multiple mechanisms of action which are described. These mechanisms are effective concomitantly and synergistically at every occasion of use of IVIG in inflammatory and autoimmune disorders.
The Psychosocial Adjustment of Medical Inpatients After Discharge: A Follow-Up Study
Authors: HENRY E. PAYSON, JOHN M. DAVIS
Journal: American Journal of Psychiatry (1967)

In a six-month follow-up of psychiatrically screened medical inpatients in a university teaching service, there was no change in "psycho-occupational" status in those who the screening psychiatrists thought did not need psychiatric referral. There was, however, significant change in status of those patients who were thought to need referral. In those who actually were referred 62 percent were better, 19 percent were the same, and 19 percent worse. Only 24 percent of the individuals who were not referred were better, 16 percent were the same, and 60 percent were worse.
THE RELATIVE REACTION WITHIN LIVING MAMMALIAN TISSUES
Authors: Douglas R. Drury, Peyton Rous
Journal: The Journal of Experimental Medicine (1926)

The present paper is the first of two dealing with experiments which were planned to disclose the meaning of the colors assumed by mammalian tissues when vitally stained with some phthalein indicators. Derivatives of the tissues themselves were employed after tests had shown, in agreement with certain facts in the literature, that inferences from model experiments, so called, would be misleading. Organs were perfused with water, or salt, or lymph of the same creature and extracted with small quantities of the fluid. The turbid extracts were colored with phthalein, the reaction determined colorimetrically with the aid of an arc light, and the findings were compared with potentiometer readings upon the material. The results of the two methods were in close agreement. The significance of the data will be discussed in our second paper.
Report bias favours screening
Authors: M. Dreier, T. Meyer, U. Walter
Journal: BMJ (2011)

While aiming to assess prostate cancer specific mortality, Sandblom and colleagues indicate a “prostate cancer specific mortality” in the screening group of 35% and in the control group of 45%, which actually is the case fatality rate.1 The true prostate cancer specific mortality was 2% (30/1494) in the screening group and 1.7% (130/7532) in …
MÉNIÈRE'S SYNDROME CAUSED BY ALLERGY
Authors: W. W. DUKE
Journal: JAMA (1923)

The symptom complex known as Meniere's syndrome has been correctly attributed, I believe, to a lesion involving the vestibular nerve apparatus. To produce this syndrome, the lesion may involve either the labyrinth or peripheral end-organ, the primary neuron or vestibular nerve proper or its tracts, or the central nuclei in the medulla or midbrain.  Several different primary causes, such as acute infectious diseases, syphilis, hemorrhage into the labyrinth, tumors and abscesses, and traumatic injuries, may result in a lesion that can have this effect. I have observed the syndrome in two patients with severe allergy in whom no other adequate cause for the illness was found. Since, in each case, relief was obtained both by the use of epinephrin and by avoidance of substances to which the patients were sensitive, and since the symptoms were reproduced during well periods by the use of foods to which they were hypersensitive, it
Financing Universities and Medical Schools
Authors: Homer D. Babbidge
Journal: JAMA (1962)

THERE HAS BEEN CONSTRUCTED for me a title of impressive proportions. The contractor wishes to apologize to the architects for necessary departures from the specifications. To tie together a discussion of medical school financing and the financing of universities generally is a trifle awkward and not easy, in large part because of the complex relationship of the medical school to its parent university, in which relationship questions of finance are of course a vital part. Medical schools are, if you will pardon the expression, somewhat eccentric parts of their universities. They differ from other segments of the university— and even from other professional schools—in a number of respects. They seem to me to be more independent, if you will, of the parent institution, less comfortable in the harness of central institutional purposes, more under the direct influence of their nonacademic professional colleagues than that of their faculty colleagues, and more
Reduced Fetal Cerebral Oxygen Consumption Is Associated With Smaller Brain Size in Fetuses With Congenital Heart Disease
Authors: Liqun Sun, Christopher K. Macgowan, John G. Sled, Shi-Joon Yoo, Cedric Manlhiot, Prashob Porayette, Lars Grosse-Wortmann, Edgar Jaeggi, Brian W. McCrindle, John Kingdom, Edward Hickey, Steven Miller, Mike Seed
Journal: Circulation (2015)

Background— Fetal hypoxia has been implicated in the abnormal brain development seen in newborns with congenital heart disease (CHD). New magnetic resonance imaging technology now offers the potential to investigate the relationship between fetal hemodynamics and brain dysmaturation. Methods and Results— We measured fetal brain size, oxygen saturation, and blood flow in the major vessels of the fetal circulation in 30 late-gestation fetuses with CHD and 30 normal controls using phase-contrast magnetic resonance imaging and T2 mapping. Fetal hemodynamic parameters were calculated from a combination of magnetic resonance imaging flow and oximetry data and fetal hemoglobin concentrations estimated from population averages. In fetuses with CHD, reductions in umbilical vein oxygen content ( P &lt;0.001) and failure of the normal streaming of oxygenated blood from the placenta to the ascending aorta were associated with a mean reduction in ascending aortic saturation of 10% ( P &lt;0.001), whereas cerebral blood flow and cerebral oxygen extraction were no different from those in controls. This accounted for the mean 15% reduction in cerebral oxygen delivery ( P =0.08) and 32% reduction cerebral V o 2 in CHD fetuses ( P &lt;0.001), which were associated with a 13% reduction in fetal brain volume ( P &lt;0.001). Fetal brain size correlated with ascending aortic oxygen saturation and cerebral V o 2 ( r =0.37, P =0.004). Conclusions— This study supports a direct link between reduced cerebral oxygenation and impaired brain growth in fetuses with CHD and raises the possibility that in utero brain development could be improved with maternal oxygen therapy.
Periodontal plastic surgery
Authors: Giovanni Zucchelli, Ilham Mounssif
Journal: Periodontology 2000 (2015)

Abstract The aim of the present article is to summarize current knowledge in terms of the etiology, diagnosis, prognosis and surgical treatment of gingival recession. Whilst the main etiological factors (i.e. toothbrushing trauma and bacterial plaque) are well established, challenges still remain to be solved in the diagnostic, prognostic and classification processes of gingival recession, especially when the main reference parameter – the cemento–enamel junction – is no longer detectable on the affected tooth or when there is a slight loss of periodontal interdental attachment. Root coverage in single type gingival recession defects is a very predictable outcome following the use of various surgical techniques. The coronally advanced flap, with or without connective tissue grafting, is the technique of choice. The adjunctive use of connective tissue grafts improves the probability of achieving complete root coverage. Surgical coverage of multiple gingival recessions is also predictable with the coronally advanced flap and the coronally advanced flap plus the connective tissue graft, but no data are available indicating which, and how many, gingival recessions should be treated adjunctively with connective tissue grafting in order to limit patient morbidity and improve the esthetic outcome. None of the allograft materials currently available can be considered as a full substitute for the connective tissue graft, even if some recent results are encouraging. The need for future studies with patient‐based outcomes (i.e. esthetics and morbidity) as primary objectives is emphasized in this review.
Positive End-Expiratory Pressure Therapy
Authors: JACK J. APPLEFELD
Journal: Annals of Internal Medicine (1973)

Comments and Corrections1 November 1973Positive End-Expiratory Pressure TherapyJACK J. APPLEFELD, M.D.JACK J. APPLEFELD, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-79-5-762_1 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptTo the editor: A few points relating to the recent paper (Ann Intern Med 79:187-193, 1973) on positive endexpiratory pressure and its beneficial effects on patients with hypoxemia on mechanical ventilation should be emphasized.First, positive end expiratory pressure is not an appropriate term; continuous positive airway pressure CPAP is more appropriate. This latter term better describes the dynamics.Second many therapies in medicine are empiric; for example, the dose of steroids in autoimmune disease. Unfortunately, the quantitation of CPAP is also empiric in some institutions. I trained at the University of Florida Anesthesiology Department, from which Drs. Modell, Klein,...References1. ASHBAUGHPETTY DT: Positive end-expiratory pressure: physiology, indications and contraindications. J Thorac Cardiovase Surg 65:165-170, 1973 CrossrefMedlineGoogle Scholar2. EGAN D: Fundamentals of Respiratory Therapy. St. Louis, The C. V. Mosby Co., 1973, p. 418 Google Scholar3. ASHBAUGH D: The adult respiratory distress syndrome, in Intensive and Rehabilitative Respiratory Care, edited by PETTY TL. Philadelphia, 1971, p. 181 Google Scholar4. GREGORYKITTERMANPHIBBS GJR: Treatment of the idiopathic respiratory-distress syndrome with continuous positive airway pressure. N Engl J Med 284:1333-1340, 1971 CrossrefMedlineGoogle Scholar5. Editorial: Increasing the transpulmonary pressure in respiratory distress syndrome. Lancet 2:244, 1973 MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: JACK J. APPLEFELD, M.D.Affiliations: University Hospital University of Maryland Baltimore, Maryland PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 November 1973Volume 79, Issue 5Page: 762-762KeywordsAnesthesiologyAutoimmune diseasesContinuous positive airway pressureHypoxiaPositive end expiratory pressureSteroidsVentilators ePublished: 1 December 2008 Issue Published: 1 November 1973 PDF downloadLoading ...