tbuckley/cabot-search huggingface dataset:
Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy
Authors: Giovanni Quarta, Alison Muir, Antonios Pantazis, Petros Syrris, Katja Gehmlich, Pablo Garcia-Pavia, Deirdre Ward, Srijita Sen-Chowdhry, Perry M. Elliott, William J. McKenna
Journal: Circulation (2011)

With recognition of disease-causing genes in arrhythmogenic right ventricular cardiomyopathy, mutation analysis is being applied.The role of genotyping in familial assessment for arrhythmogenic right ventricular cardiomyopathy was investigated, including the prevalence of mutations in known causal genes, the penetrance and expressivity in genotyped families, and the utility of the 2010 Task Force criteria in clinical diagnosis. Clinical and molecular genetic evaluation was performed in 210 first-degree and 45 second-degree relatives from 100 families. In 51 families, the proband was deceased. The living probands had a high prevalence of ECG abnormalities (89%) and ventricular arrhythmia (78%) and evidence of more severe disease than relatives. Definite or probable causal mutations were found in 58% of families and 73% of living probands, of whom 28% had an additional desmosomal variant (ie, mutation or polymorphism). Ninety-three relatives had a causal mutation; 33% fulfilled the 2010 criteria, whereas only 19% satisfied the 1994 version (P=0.03). An additional desmosomal gene variant was found in 10% and was associated with a 5-fold increased risk of developing penetrant disease (odds ratio, 4.7; 95% confidence interval, 1.1 to 20.4; P=0.04).Arrhythmogenic right ventricular cardiomyopathy is a genetically complex disease characterized by marked intrafamilial phenotype diversity. Penetrance is definition dependent and is greater with the 2010 criteria compared with the 1994 criteria. Relatives harboring >1 genetic variant had significantly increased risk of developing clinical disease, potentially an important determinant of the phenotypic heterogeneity seen within families with arrhythmogenic right ventricular cardiomyopathy.
A strategy based on galactomannan antigen detection and PCR for invasive pulmonary aspergillosis following influenza A (H1N1) pneumonia
Authors: Christophe Guervilly, Antoine Roch, Stéphane Ranque, Jean-Marie Forel, Sami Hraiech, François Xeridat, Melanie Adda, Laurent Papazian
Journal: Journal of Infection (2012)
Adalimumab for the Treatment of Refractory Acne Conglobata
Authors: Freja Lærke Sand, Simon Francis Thomsen
Journal: JAMA Dermatology (2013)

Tumor necrosis factor (TNF) inhibitors have become important components of the treatment of multiple chronic inflammatory disorders such as psoriasis, psoriatic arthritis, rheumatoid arthritis, ankylosing spondylitis, juvenile idiopathic arthritis, Crohn disease, and ulcerative colitis. Furthermore, off-label use of TNF inhibitors has been reported for a variety of other diseases. We report a case of refractory acne conglobata treated with the TNF inhibitor adalimumab.
Manson's Tropical Diseases
Authors: Barnett L. Cline
Journal: JAMA (1997)

Tropical Diseases Readers of this review, mostly American physicians, will want to know the merits of this distinctly British product. Since 1898, when Patrick Manson (widely recognized as the "father of tropical medicine" in the English-speaking world) produced the first edition of<i>Manson's Tropical Diseases</i>, the discipline of tropical medicine has changed. It has evolved from its colonial origins to a presentday focus on treating and controlling the major diseases, largely infectious, found predominantly in tropical and developing countries. Although initially concerned with preserving the health of civil servants, merchants, military, clerics, and selected populations of indigenous workers, the discipline of tropical medicine now finds itself with new and broader challenges. It faces a world shrunken drastically by jet travel, with newly emerging and reemerging infectious diseases. It faces new patterns of disease influenced by powerful interrelated global factors, such as rapid urbanization, aging populations, economic stagnation, environmental degradation, and
Doctors' Pay — Safety of Drugs — Hazards of Growing up — Postscript on Fees
Authors: John Lister
Journal: New England Journal of Medicine (1963)

FOR many years after the start of the National Health Service the question of the doctor's pay caused great dissatisfaction and was a major factor in the poor relation that developed between the medical profession and successive governments. No clearly defined method of negotiation on matters of pay appeared to exist, and the record of wranglings that took place reflected no great credit on either party.The Royal Commission appointed in 1957 to advise on remuneration did much to improve matters when it reported in 1960. Immediate grievances were largely satisfied by the increase in pay recommended at that time, . . .
Medical Genetics 1958-1960: An Annotated Review
Authors: Arno G. Motulsky
Journal: JAMA (1962)

Physicians in search of information in medical genetics will welcome the publication of this extensive compilation of literature. For several years now, Dr. McKusick and his colleagues have been sifting a widely scattered literature in this area and have published highly informative abstracts once a year in the<i>Journal of Chronic Diseases</i>. This volume represents a collection of the entire material for 1958-1960. The amount of literature published pertinent to medical genetics is very extensive. Since the field ranges from basic biology to many different clinical specialties, it is extremely difficult to keep up with all developments. This book, therefore, fulfills a real need and will be of value for every physician who has to deal with hereditary disease or wants to keep up with recent developments in medical genetics. The book is useful for getting at the literature of any heritable disease or syndrome and serves as a companion
Local cerebral blood volume determined by three-dimensional reconstruction of radionuclide scan data.
Authors: D E Kuhl, M Reivich, A Alavi, I Nyary, M M Staum
Journal: Circulation Research (1975)

We developed a method to determine in man absolute values of local cerebral blood volume (LCBV) localized throughout the brain in three dimensions and presented in a cross-sectional picture format. Previously, absolute values of LCBV have been determined in vivo by stimulated X-ray fluorescence, but these determinations have been limited to one point in the brain at a time. All other previous estimates of LCBV by external emission counting have been contaminated by the significant contribution of blood in the overlying scalp and cranium. In our method, a transverse section scan is made after the injection of -99m-Tc-labeled red blood cells into a peripheral vein. Data processing then gives a point-to-point estimate of absolute radionuclide concentration analogous to an autoradiograph. After the concentration of blood activity is determined, counting data are converted to a two-dimensional map of LCBV representing a cross section at a known level of the brain. In a series of five baboons, the following equation was obtained for the regression plane that relates LCBV in the center of the brain to arterial carbon dioxide tension (P-ALPHA-CO2) and mean arterial blood pressure (MABP): LCBV equals 2.88 + 0.049P-ALPHA-CO2 MINUS 0.013MABP. In patients, LCBE values ranged from 2 to 4 ml/100 g depending on location; higher values corresponded to regions of cerebral cortex. Differences in blood volumes of focal brain lesions were also quantified.
Investigation and management of pulmonary infiltrates following bone marrow transplantation: an eight year review.
Authors: J H Campbell, N Blessing, A K Burnett, R D Stevenson
Journal: Thorax (1993)

BACKGROUND--Although pulmonary infiltrates are common in bone marrow transplant recipients and add significantly to the morbidity and mortality of this group of patients, there is uncertainty as to the most appropriate investigation and a lack of information on the effects of investigations on management and outcome. METHODS--All bone marrow transplant recipients from one institution referred for respiratory investigation between 1982 and 1990 were reviewed. RESULTS--Of 204 bone marrow transplant recipients 27 developed pulmonary infiltrates which failed to respond to broad spectrum antibiotics. All were examined by bronchoscopy and bronchoalveolar lavage. A specific diagnosis was made in 20 cases, 17 with an infective cause and three with a non-infective aetiology. In 17 of the 27 episodes these investigations led to a positive change in treatment, but in only five did these changes result in patient survival beyond one month. Eighteen of the 20 deaths were due to progressive respiratory failure of an infective aetiology in 14 and non-infective in four. CONCLUSIONS--Bronchoscopy and bronchoalveolar lavage are effective in establishing a diagnosis, but the impact on overall survival is disappointingly poor.
To Breathe or Not to Breathe What Have We Learned about Apneic Spells and Sudden Infant Death?
Authors: Mary Ellen Avery, Ivan D. Frantz
Journal: New England Journal of Medicine (1983)

"The relation of apneic spells, so commonly seen in premature infants, and sudden infant death remains speculative." So it was in 1977, so it is in 1983.A review of some of the studies in the intervening years is timely. In 1977 Shannon et al.1 reported that ventilatory responses to inspired carbon dioxide were depressed in infants who had had apneic episodes from which they had been resuscitated ("near-miss sudden infant death"). This important observation was investigated further to see whether infants at risk could be identified in the neonatal period by depressed responses to carbon dioxide, hypoxic responses, or . . .
Persistent normalization of serum alanine aminotransferase levels improves the prognosis of type 1 autoimmune hepatitis
Authors: Yasuhiro Miyake, Yoshiaki Iwasaki, Ryo Terada, Shinjiro Takagi, Ryoichi Okamaoto, Hiroshi Ikeda, Nobuyuki Sakai, Yasuhiro Makino, Haruhiko Kobashi, Kouichi Takaguchi, Kohsaku Sakaguchi, Yasushi Shiratori
Journal: Journal of Hepatology (2005)
Disappearing Bone Disease
Authors: Joe M. Abell
Journal: JAMA (1961)

THE VERY NAMES "disappearing bone disease" and "phantom bone" imply a lack of understanding of this rare and remarkable disease. It is noteworthy that the first case reported well over a century ago, without benefit of radiography or microscopy, remains as valid a description as any to date. In 1838, Jackson<sup>1, 2</sup>reported a case of a young man with a progressively disappearing humerus, whom he had followed for 18 years. A fracture of the midshaft of the right humerus was followed by nonunion, 2 subsequent pathological fractures, and, finally, complete painless dissolution of the entire humerus over a period of 12 years. His hand could be twisted twice around, giving the arm the appearance of a rope. Perhaps most remarkable is the fact that he maintained full strength in the arm provided it was stablized, either with the other hand or by its dependent position. He lived a
Australia: Medical Research, 1877-1975
Authors: RALPH DOHERTY
Journal: Annals of Internal Medicine (1976)

Abroad1 February 1976Australia: Medical Research, 1877-1975RALPH DOHERTYRALPH DOHERTYSearch for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-84-2-217 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptPlate tectonics have given Australia, the continent, an adventurous past—splitting off from Gondwanaland perhaps 60 million years ago, drifting through the latitudes, impinging on to the island arcs of southern Asia perhaps 20 million years ago—in which man plays a very recent role. Its most characteristic fauna and flora, such as the kangaroo and the eucalyptus, evolved in Gondwanaland days. The aboriginal, his dog the dingo, and the animal and plant species in rain forests of northeast Australia came from Asia, either island-hopping or over ice-age land bridges. Such parvenus as the white man, the rabbit, and the prickly pear... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Queensland Institute of Medical Research Brisbane, Queensland Australia PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 February 1976Volume 84, Issue 2Page: 217-218KeywordsRabbits Issue Published: 1 February 1976 PDF DownloadLoading ...
New England's First Recorded Hydatidiform Mole
Authors: Margaret V. Richardson, Arthur T. Hertig
Journal: New England Journal of Medicine (1959)

HYDATIDIFORM moles have been known for many centuries and have had their existence explained in various, sometimes unique, ways. Diocles of Carystos supposedly had a knowledge of moles in the third century B.C., and Erotianus, in the time of Nero (54–68 A.D.), made suggestions concerning the degenerative nature of the molar villi.1 In 1564 Christopher de Vigo described the expulsion of a 12-pound mole,1 and in 1565 Schenk von Grafensberg has been credited with classic descriptions,2 calling it mola aquea. F. Balleriola believed hydatids developed from ova that had not been impregnated (1573), and F. Mauriceau, in 1664, considered the . . .
Occult Bowen's disease in keratinous cysts
Authors: WALTER B. SHELLEY, MARGARET GRAY WOOD
Journal: British Journal of Dermatology (1981)

Journal Article Occult Bowen's disease in keratinous cysts Get access WALTER B. SHELLEY, WALTER B. SHELLEY Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, U.S.A. Search for other works by this author on: Oxford Academic Google Scholar MARGARET GRAY WOOD MARGARET GRAY WOOD Department of Dermatology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, U.S.A. Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 105, Issue 1, 1 July 1981, Pages 105–108, https://doi.org/10.1111/j.1365-2133.1981.tb00891.x Published: 01 July 1981 Article history Accepted: 31 July 1980 Published: 01 July 1981
<i>In vivo</i>Optical Molecular Imaging of Vascular Endothelial Growth Factor for Monitoring Cancer Treatment
Authors: Sung K. Chang, Imran Rizvi, Nicolas Solban, Tayyaba Hasan
Journal: Clinical Cancer Research (2008)

Vascular endothelial growth factor (VEGF) expression is a critical component in tumor growth and metastasis. Capabilities to monitor VEGF expression in vivo can potentially serve as a useful tool for diagnosis, prognosis, treatment planning, monitoring, and research. Here, we present the first report of in vivo hyperspectral molecular imaging strategy capable of monitoring treatment-induced changes in VEGF expression.VEGF was targeted with an anti-VEGF antibody conjugated with a fluorescent dye and was imaged in vivo using a hyperspectral imaging system. The strategy was validated by quantitatively monitoring VEGF levels in three different tumors as well as following photodynamic treatment. Specificity of the molecular imaging strategy was tested using in vivo competition experiments and mathematically using a quantitative pharmacokinetic model.The molecular imaging strategy successfully imaged VEGF levels quantitatively in three different tumors and showed concordance with results from standard ELISA. Changes in tumoral VEGF concentration following photodynamic treatment and Avastin treatment were shown. Immunohistochemistry shows that (a) the VEGF-specific contrast agent labels both proteoglycan-bound and unbound VEGF in the extracellular space and (b) the bound VEGF is released from the extracellular matrix in response to photodynamic therapy. In vivo competition experiments and quantitative pharmacokinetic model-based analysis confirmed the high specificity of the imaging strategy.This first report of in vivo quantitative optical molecular imaging-based monitoring of a secreted cytokine in tumors may have implications in providing tools for mechanistic investigations as well as for improved treatment design and merits further investigation.
A Lecture ON THE TOXAEMIAS OF PREGNANCY
Authors: A. W. Bourne
Journal: BMJ (1920)

THE exact relation of the mother tolher unborn clhildlhas been debated since Bar' first suggested that botil lived for the mutual advantage of eaclh other.He believed that in return for the protection and nourislhment of tllegrowing fetus afforded by tlle motlher, the fetus conferred certain nutritional advantages, as slhown by an accelerated and 'nsified metabolism, whliclh make for lier improved L'<.ltl, lasting not only during pregnancy but for it 'm '1,c n'.rf-li of tlle cllild.0)&it, -X.th-lieory may be to our sentiment, tlle icet.iti -: ;stigations on pregnant women, notab, r afford strong evidence that the fetus in utre l "it not a symbiotic partner but ratlier a foreign elemenlL, a ,x Nays a source of potential danger to its host.Suclh laboratory findings only support common clinical evidence.Tlhouglh tlle pregnant womnan may be in wlhat slhe calls good hlealtlh fromn the beginning to tlle end of gestation, yet we know that lepartures from tlle normal, sometimes very serious, are only too comImon, and in general it is undeniable that preananit womuen are in a less stable and robust condition tllan whlen not carrying.
Gastrointestinal Physiology: The Essentials
Authors: Robert A. Levine
Journal: JAMA (1980)

This deceptively short introduction to gastrointestinal (GI) physiology is, in reality, a complete review of GI function. The content of the monograph includes general GI functions, secretion, and absorption. Considering its brevity, the book, although it has no references, is well indexed. It succeeds in explaining physiological concepts in a clear manner with simple and original illustrations. Difficult concepts such as the intestinal countercurrent exchange mechanism are presented in a concise and dynamic graphic manner. A unique feature is the brief summaries at the end of all chapters and a comprehensive summary in the final chapter, which can be particularly helpful to the medical and graduate student of GI physiology. Clinical examples of GI pathophysiology are presented for each topic. They include gastric mucosal damage and acid back diffusion, ischemia of the bowel, reflux esophagitis, gastric outlet obstruction, mucosal barrier breakage, carbohydrate malabsorption, and many others. For the most part,
INFANTILE HEAD NODDING AND ROTARY SPASM.
Authors: C. C. WHOLEY
Journal: JAMA (1907)

This condition was described by Henoch many years ago and since his time cases have been reported by Hadden, Peterson and others. In the<i>Lancet</i>, June 14, 1890, Hadden takes up the phenomenon at some length, citing five cases, typifying variations with sufficient constancy to warrant sub-classes. His general title is: "Head Nodding and Head Jerking in Children, Commonly Associated with Nystagmus." The condition is characterized by nodding or lateral movements of the head, singly or associated with one another or with movements of rotation. The rotary spasm is the most frequent. The oscillations may be slow or rapid, and at times almost continuous. An interesting feature is the fact that these movements all cease during sleep and when the child is lying down. There may or may not be an associated nystagmus; it may affect one or both eyes; it may accompany, precede, or follow the head movements, is
Anticonvulsant Drugs And Vitamin D Metabolism
Authors: John C. Leonidas
Journal: JAMA (1973)

To the Editors.—  I would like to take issue with the authors' interpretation of these findings and their conclusion. Rickets and osteomalacia related to antiepileptic drugs are most often mild and subclinical and cannot be excluded by the author's retrospective study, at least at some point in their patients' course. Failure to uncover it in the group of 28 patients only proves that the disorder is not quite that common. A similar study of 50 children attending the neurology clinic at the Children's Mercy Hospital, mainly by wrist roentgenography, showed subclinical rickets in two children. The disease was then confirmed by additional biochemical findings.  In their review, the authors omit the important contributions of Hunter et al, 1,2 who showed hepatic microsomal enzyme induction by anticonvulsant drugs, measuring urinary excretion of D-glucaric acid. More recently Hahn and his associates found lower serum 25-hydroxycholecalciferol levels in the group under therapy with
Preliminary evidence of an association of tumour necrosis factor microsatellites with increased risk of multiple basal cell carcinomas
Authors: A.H. Hajeer, J.T. Lear, W.E.R. Ollier, M. Naves, J. Worthington, D.A. Bell, A.G. Smith, W.P. Bowers, P.W. Jones, R.C. Strange, A.A. Fryer
Journal: British Journal of Dermatology (2000)

Abstract Tumour necrosis factor alpha (TNF-α) appears important in ultraviolet-induced immunosuppression, suggesting that it is a susceptibility candidate for cutaneous basal cell carcinoma (BCC). We now describe data on the association between TNF microsatellite polymorphisms, first on susceptibility in 202 controls and 133 cases each having two to 30 BCCs, and secondly, within the cases, on BCC numbers. The data show that the proportions of individuals with TNF a1- and a7-containing genotypes were significantly different (P = 0·0271, P = 0·0393, respectively) between cases and controls. Secondly, within the cases, TNF alleles d4 (P = 0·023) and d6 (P = 0·006) alone, and the TNF a2–b4–d5 haplotype (P = 0·007), were significantly associated with the number of BCC lesions. These preliminary data provide the first evidence that TNF microsatellite polymorphism may influence the pathogenesis of multiple BCC.
Acute Urethritis in Male College Students
Authors: John A. McChesney
Journal: JAMA (1973)

The cause of acute urethritis was studied prospectively in an unselected group of 62 male university students. Urethral exudate and urine samples were cultured for<i>Neisseria gonorrheae</i>and T-mycoplasmas, and the results were compared with findings in a similar group of 70 healthy controls. Only 8% of the patients were found to have gonorrhea by culture. Of the remaining 57 patients with nongonococcal urethritis, 76% were positive for T-mycoplasmas while 27% of 70 controls were carrying the organism. Symptoms in patients with nongonococcal urethritis cleared during therapy with tetracyclines or erythromycin, and posttherapy cultures for T-mycoplasmas showed only a 28% carriage rate. Nongonococcal urethritis was much more common than gonorrhea in this student population, in spite of the epidemic of gonorrhea occurring in the United States. In addition, the view that T-mycoplasmas may be a cause of nongonococcal urethritis was supported by this study.
Left atrial appendage ligation during mitral valve surgery may increase the risk of late thromboembolic events
Authors: Nour M. Juratil, Bruce L. Wilkoff, Patrick J. Tchou, Delos M. Cosgrove, Bruce W. Lytle, Mina K. Chung, Michael S. Lauer, Luther T. Clark, Mark J. Niebauer, Walid Saliba, Robert A. Schweikert, Andrea Natale
Journal: Journal of the American College of Cardiology (2002)
Lymphoepithelioma-like gastric carcinoma resected by endoscopic submucosal dissection (ESD)
Authors: H. Moon, S. Kang, J. Seong, H. Jeong, K. Song
Journal: Endoscopy (2010)

We report here a rare case of lymphoepithelioma-like gastric carcinoma that presented as a flat depressed lesion and was treated by complete en-bloc resection using endoscopic submucosal dissection (ESD).