tbuckley/cabot-search huggingface dataset:
Abstract 2114: Deletions/Duplications detection by MLPA in Chilean families with hereditary colorectal cancer: Lynch syndrome and FAP
Authors: Claudia Hurtado, Paulina Orellana, Karin Alvarez, Marjorie De la Fuente, Ana María Wieland, Eliana Pinto, Claudio Heine, James Church, Udo Kronberg, Pilar Carvallo, Francisco López-Kostner
Journal: Cancer Research (2010)

Abstract The main variants of colorectal cancer hereditary are Familial Adenomatous Polyposis (FAP) and Lynch Syndrome, which account for approximately 5% of total cases of colorectal cancer. Point mutations in APC and MMR genes are responsible of about 85% and 50% of Chilean FAP (classic phenotype) and Lynch Syndrome (Amsterdam criteria) families, respectively. Different molecular strategies are available for the detection of mutations in these genes. Studies in other populations have identified deletions and duplications of one or more consecutive exons account for around 50% and 10-20% of the total alterations in MMR and APC genes, respectively. The aim of our work was the detection of genomic deletion/duplication through Multiplex Ligation-Dependent Probe Amplification (MLPA) in Lynch Syndrome and FAP patients in Chile. In this study, we analized alterations in MLH1 and MSH2 in 26 Lynch Syndrome families (5 Amsterdam and 21 Bethesda families), and in APC in 10 FAP families (6 classic and 4 attenuated), all of them non carriers of point mutations in these genes. We identified 3 different alterations in the MLH1 in four Amsterdam families, all of them are 0.5 times deletion, which are located: exon 1 in one family, exon 19 in two families, and exons 14 and 15 in one family. In the MSH2, in one Amsterdam family we detected a 0.5 time deletion of exon 2. In the APC, we found 2 different alterations in three classic FAP families: in one family we detected a 0.5 times deletion of the whole gene including promoter region, and in two families we found a 1.5 time amplification of exons 1, 2 and 3. These alterations were confirmed in other relatives of these families and in two independent MLPA analysis. The deletion of exon 19 in MLH1 and the amplification of exons 1, 2 and 3 in APC have not been previously described in other populations. In conclusion, genomic deletions/duplications were only detected in 5 Lynch Syndrome families that fulfilled Amsterdam criteria, and in 3 FAP families with classic phenotype. The detection of different mutations involved in these syndromes, allows the development of prevention strategies of these diseases. Financed by Cleveland Clinic Foundation and Las Condes Clinic. Citation Format: {Authors}. {Abstract title} [abstract]. In: Proceedings of the 101st Annual Meeting of the American Association for Cancer Research; 2010 Apr 17-21; Washington, DC. Philadelphia (PA): AACR; Cancer Res 2010;70(8 Suppl):Abstract nr 2114.
CASE OF DISLOCATION OF THE HUMERUS ON THE DORSUM OF THE SCAPULA
Authors: R. U. West
Journal: BMJ (1854)

OXGINAL' OOMMUNC ATIONS. in which it was contained.This is an obh saeatlon which we have constntly the opportunity of verifying.When a part upon which an artificial inocula- tion has been made, is made to slough, by the application of caustic, within four or five days of the infection, a simple so alone will ordinarily result.After the separation of the slough, the surface of the wound will not furnish an inoculable matter.In like manner, after natural inocula, tion, if the part inoculated sloughs within the first few days, a simple ulcer alone will be left.We find in such cases that there is no suppuration of the inguinal glands, because there is no ulceration of any infected part.There is no contamination of the system, because the viru, by means of which constitutional infection takes place, has been de- stroyed before the process has been gone through.The three cases which we have now considered, may be regarded, as I have stated, as types of three very common classes of affections, differing in their mode of origin, in their effects upon the constitution, and in the treatment which t*hv MrAUiVAThe first presented in its origin a sore surrounded by specific adhesive inflammation.The glands of the groin were in a state of slight chronic enlargement, and the con- stitution was affected with syphilis.The second originated in a sore presenting the characters of acute ulceration.The glands in the groin became in- flamed and suppurated.But I venture to say there will be here no constitutional affection.The third, as far as we have been able to learn, commences as a sloughing sore, and has been accompanied by neither inflammation of the inguinal glands nor syphilitic affection of the system.At our next meeting, I purpose to make some further remarks on the second of these three forms of disease.
ANALYSIS OF LUNG UPTAKE ON THALLIUM-201 IMAGING WITH EXERCISE AND ADENOSINE INFUSION
Authors: P. R. Vande Streek, F. L. Weilnnd, D. A. Belvedere, E. P. Coyne, L. J. Spaccavento, R. E. Evans
Journal: Clinical Nuclear Medicine (1991)

Vande Streek, P. R.; Weilnnd, F. L.; Belvedere, D. A.; Coyne, E. P.; Spaccavento, L. J.; Evans, R. E. Author Information
Letter: Attitudes towards alcoholism.
Authors: M M Glatt
Journal: BMJ (1975)

that on the figures given "the acute myo- ca,rdial inifarction mortality appeared to be twice as high in the beta-blocked patients as in the control group."The further infomiation swplied by Dr. Oram and his colleagues on the two-year survival of 35 of the trial patients on tolamolol is encouraging but irrelevant to the present argument as they are a preselected group.
Points from Letters: "Wriggling Reflex"
Authors: J. Lieber
Journal: BMJ (1965)

African rural population (10 July, p. 111) will come as a shock to those who may have changed from moderate cigarette smoking to pipe smoking as a preventive measure.Contrasting the relative lung-cancer death rates for (1) smokers of up to 20 cigarettes a day and (2) pipe smokers in his survey and that of Hammond and Horn' in America gives the following results: Lung-cancer Lung-cancer Mortality Mortality Compared with Compared with that of that of the Non-smokers Total Average > $ > uS.> d_ U-U ~hU C4 0Hammond and Horn's study of white Americans aged 50- 69 (1952-5)' .. 793% 301% 149% 57%NODean's study of white South Africans aged 45-64 (1947-60) 186% 486% 43%/o 113%
Role of Cyclooxygenase-2 in Oleic Acid–Induced Acute Lung Injury
Authors: RENÉ GUST, JAMES K. KOZLOWSKI, ALAN H. STEPHENSON, DANIEL P. SCHUSTER
Journal: American Journal of Respiratory and Critical Care Medicine (1999)

Eicosanoid production appears to be important to both edemagenesis and the pattern of pulmonary perfusion in experimental acute lung injury (ALI). We hypothesized that these effects could be mediated by the inducible form of cyclooxygenase (COX-2). We used positron emission tomography to evaluate the pulmonary perfusion pattern in dogs given oleic acid (OA) only (n = 6), the novel COX-2 inhibitor SC-236 50 min before OA (n = 3), and SC-236 given 20 min before endotoxin (Etx), followed by OA given 30 min after Etx (n = 5). Thromboxane B(2) (TXB(2)) and prostacyclin (6-keto prostaglandin F(1alpha); 6-keto PGF(1alpha)) metabolite concentrations in plasma and lung tissue were measured in these groups and in another group given Etx + OA (n = 4). Inhibition of COX-2 before administration of OA alone or before administration of Etx and OA did not have any significant effect on plasma or lung tissue concentrations of TXB(2). However, inhibition of COX-2 prior to Etx and OA significantly reduced the plasma and lung tissue concentrations of 6-keto PGF(1alpha) as compared with those in the group given only Etx + OA. Moreover, SC-236 prevented the expected loss of perfusion redistribution associated with Etx + OA only. The effect of endotoxin on pulmonary perfusion in ALI is therefore the result of a COX-2-mediated increase in prostacyclin production in lung tissue.
ABC of General Surgery in Children: ACUTE PROBLEMS OF THE SCROTUM
Authors: M. Davenport
Journal: BMJ (1996)

~~~~' An "acute scrotum" is a common Iniec of commonpresentation in infants and children with several possible causes, some of which require ~~~~~~~~~~~~~~~immediate corrective surgery while others may The likeliestca ineed only reassurance.It is helpful to consider the ossibilities by the age of the child, as knowledge of this can lead in many cases to heriamathe most likely diagnosis.Incidence of common causes of acute scrotal problems in infants and children. Acute problems in newborn infantsThe likeliest cause in a newbor infant is testicular torsion or trauma, usually due to a breech delivery.In infants an irreducible inguinal hernia may mimic an acute scrotal problem Testicular torsionA testicular torsion in newborn infants differs anatomically from that in older boys because it is a twist of the whole spermatic cord, and presumably occurs because of the unfixed nature of the newly .... ... ...... .fdescended testis.Almost all of such torsions present late-at the stage * s . . . . .-. .: ; : of overt testicular necrosis.Pain and tenderness are not prominent features in newborn infants.The scrotum is usually red and swollen
David Duncan Craig
Authors: C. Stossel
Journal: BMJ (2003)

Former general practitioner Chelsea (b 13 July 1932; q Cambridge/London 1959), d 18 July 2003.

David read natural sciences at Cambridge, after national service, and went to St Mary's Hospital, London, for his clinical studies. He joined his father in general practice in Chelsea, eventually becoming a singlehanded practitioner, ably assisted by his wife, Jean. He was a keen swimmer and golfer, and had played a round on the morning of his death. That evening David took part in a traditional half mile swimming race in the river Thames. He was observed swimming strongly 300 yards down the course but he did not complete the race.
Homocystinuria and Ectopia Lentis in Negro Family
Authors: Robert P. Thomas
Journal: JAMA (1966)

HOMOCYSTINURIA was reported in 1962 by Carson and Neill,<sup>1</sup>who detected the condition in two patients while surveying mentally retarded children in Northern Ireland, and by Gerritsen et al,<sup>2</sup>who described the syndrome in an infant with mental retardation and congenital anomalies. Since these two original reports, other cases have been added to the literature.<sup>3-7</sup> The salient clinical features of this condition include dislocation of the lens, mental retardation, and the presence of excessive amounts of the amino acid, homocystine, in the urine. This latter finding is related to deficit of the enzyme, cystathionine synthetase, which is involved in the conversion of homocysteine to cystathionine. In the previously reported cases, the patients had fair hair and skin, blue eyes, and a malar flush. Many had thromboembolic phenomena. Several deaths have been attributed to this latter finding.<sup>8</sup> This paper presents four Negro siblings in a family of
Breast-feeding, α1-Antitrypsin Deficiency, and Liver Disease?
Authors: Tomas Sveger
Journal: JAMA (1985)

<h3>To the Editor.—</h3> Having read with interest the article by Udall and colleagues<sup>1</sup>suggesting a preventive effect of breast milk against severe liver disease in α<sub>1</sub>-antitrypsin (α<sub>1</sub>-AT) deficiency, I should like to report the findings of a Swedish prospective study of children with the protease inhibitor Z genetic variant (PiZ) α<sub>1</sub>-AT deficiency.<sup>2</sup> <h3>Study.—</h3> Between 1972 and 1974, approximately 200,000 Swedish infants were screened for α<sub>1</sub>-AT deficiency. Of the 122 PiZ children identified, 14 had neonatal cholestasis, and another eight had minimal abnormalities in levels of serum bilirubin and hepatic enzyme activity, and hepatosplenomegaly; the remaining 100 PiZ children had no clinical signs of liver disease, although about a third of them had increased serum concentrations of γ-glutamyl transpeptidase (S-GT).<sup>2</sup> In most cases, feeding records were kept at local child welfare clinics for the first six months of life; feeding histories
Differential expression of microRNAs in exhaled breath condensates of patients with asthma, patients with chronic obstructive pulmonary disease, and healthy adults
Authors: Mark Pinkerton, Vernon Chinchilli, Erin Banta, Timothy Craig, Avery August, Rebecca Bascom, Margherita Cantorna, Eric Harvill, Faoud T. Ishmael
Journal: Journal of Allergy and Clinical Immunology (2013)
Effects of chronic right ventricular pressure overload on myocardial glucose and free fatty acid metabolism in the conscious rat
Authors: D. Takeyama, Y. Kagaya, Y. Yamane, N. Shiba, M. Chida, T. Takahashi, T. Ido, N. Ishide, T. Takishima
Journal: Cardiovascular Research (1995)

Journal Article Effects of chronic right ventricular pressure overload on myocardial glucose and free fatty acid metabolism in the conscious rat Get access Daiya Takeyama, Daiya Takeyama aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Yutaka Kagaya, Yutaka Kagaya aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Yuriko Yamane, Yuriko Yamane aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Nobuyuki Shiba, Nobuyuki Shiba aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Masanobu Chida, Masanobu Chida aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Toshihiro Takahashi, Toshihiro Takahashi bDivision of Radiopharmaceutical Research, Cyclotron and Radioisotope Centre, Tohoku University, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Tatsuo Ido, Tatsuo Ido bDivision of Radiopharmaceutical Research, Cyclotron and Radioisotope Centre, Tohoku University, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Nobumasa Ishide, Nobumasa Ishide * aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan *Correspondence to Dr Ishide. Search for other works by this author on: Oxford Academic PubMed Google Scholar Tamotsu Takishima Tamotsu Takishima aFirst Department of Internal Medicine, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai 980, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar Cardiovascular Research, Volume 29, Issue 6, June 1995, Pages 763–767, https://doi.org/10.1016/S0008-6363(96)88610-X Published: 01 June 1995 Article history Received: 20 September 1994 Accepted: 15 December 1994 Published: 01 June 1995
Human herpesvirus 6 infection associated with anticonvulsant hypersensitivity syndrome and reactive haemophagocytic syndrome
Authors: V. DESCAMPS, F. BOUSCARAT, S. LAGLENNE, E. ASLANGUL, B. VEBER, D. DESCAMPS, J-L. SARAUX, M.J. GRANGE, M. GROSSIN, E. NAVRATIL, B. CRICKX, S. BELAICH
Journal: British Journal of Dermatology (1997)

Viral infections are thought to play a part in some cutaneous drug reactions. Human herpesvirus 6 (HHV6), which is the agent of exanthema subitum (sixth disease), has never been implicated in a drug reaction. We report a patient with severe phenobarbital-induced anticonvulsant hypersensitivity syndrome in whom a fulminant haemophagocytic syndrome was associated with HHV6 infection. We discuss the possible role of HHV6 in this reactive condition.
Quality of life after use of environmental control measures together with the application of the acaricide frontac in the environment of patients suffering from allergic respiratory pathology
Authors: Cisteró-Bahíma Anna, Malet Alfonso, Enrique Ernesto, Amat Pau, Alonso Rosario, San miguel-Moncín María Del Mar, Bartra Joan, Pueyo María Gloria
Journal: Journal of Allergy and Clinical Immunology (2002)
The bone and mineral disorder of children undergoing chronic peritoneal dialysis
Authors: Dagmara Borzych, Lesley Rees, Il Soo Ha, Annabelle Chua, Patricia G. Valles, Maria Lipka, Pedro Zambrano, Thurid Ahlenstiel, Sevcan A. Bakkaloglu, Ana P. Spizzirri, Laura Lopez, Fatih Ozaltin, Nikoleta Printza, Pankaj Hari, Günter Klaus, Mustafa Bak, Andrea Vogel, Gema Ariceta, Hui Kim Yap, Bradley A. Warady, Franz Schaefer
Journal: Kidney International (2010)
Extrarenal Abnormalities in Tc-99m DTP A Renal Perfusion Studies Due to Hypervascularized Tumors
Authors: HEINER BIHL, MARIE LUISE SAUTTER-BIHL, GERHARD RIEDASCH
Journal: Clinical Nuclear Medicine (1988)

In cases of impaired renal perfusion and/or function, Tc-99m DTPA renal flow studies are often used as screening procedures. Besides the demonstration of pathological changes in renal perfusion and/or function, various extrarenal abnormalities may sometimes be detected. Three cases of hypervascular tumors were detected during the course of Tc-99m DTPA renography. These findings stimulated further diagnostic clarification revealing extended extrarenal lesions associated with several different etiologies: angiomyolipoma in tuberous sclerosis, extramedullary manifestations of plasmacytoma, and metastasis of renal carcinoma. One should be aware of these extrarenal abnormalities in renal flow studies since these three tumor entities frequently exhibit increased vascularity.
Cardiff infant inflating bag.
Authors: W. W. Mushin, E. K. Hillard
Journal: BMJ (1970)

BmnDICJOL their sera of agglutinins against brucella antigen, it is easy to see that overdiagnosis is something that must constantly be guarded against.At present, the serological tests for brucellosis in any patient must not only be interpreted in the light of his symptonatology, but also with cognizance of the serological values obtained in the community in which he lives, and of his epidemiological history.'2Previous authors have been too ready to accept a history of symptoms obtained by questionnaire as evidence of clinical brucellosis when allied to positive serological tests, resulting in very high reported incidences of the disease in veterinary surgeons.87Critical evaluation of each individual is necessary to give an indication of the true incidence of brucellosis in any occupationally exposed group.5-Iam, etc.,
Living with One Hemisphere — A Large Porencephalic Cyst
Authors: Antonio Trabacca, Franca DiCuonzo
Journal: New England Journal of Medicine (2009)

A 2-year-old girl presented with gait disturbance and difficulty using her right hand. She had been born by normal spontaneous delivery at 38 weeks of gestation after an uncomplicated pregnancy. On admission, she was found to have a normal head circumference and mild spastic right hemiparesis. Neuropsychological testing showed normal comprehension and social skills. She had mild bimanual dyspraxia and mild dysarthria. An electroencephalogram revealed reduced background activity in the left hemisphere. Magnetic resonance imaging of the brain revealed a large, left hemispheric, porencephalic cyst, with extension into the frontal, temporal, and occipital lobes (Panel A). Only residual rims of . . .
Renal Transplantation between HIV-Positive Donors and Recipients
Authors: Elmi Muller, Delawir Kahn, Marc Mendelson
Journal: New England Journal of Medicine (2010)

Investigators in South Africa undertook four renal transplantations involving HIV-positive donors and HIV-positive recipients with end-stage renal disease. At 12 months after transplantation, all recipients had good renal function and had not needed dialysis since the procedure.
Cytokine production by mouse myeloid dendritic cells in relation to differentiation and terminal maturation induced by lipopolysaccharide or CD40 ligation
Authors: Adrian E. Morelli, Alan F. Zahorchak, Adriana T. Larregina, Bridget L. Colvin, Alison J. Logar, Takuya Takayama, Louis D. Falo, Angus W. Thomson
Journal: Blood (2001)
Broncho-oesophageal Fistula with No Pulmonary Symptom
Authors: C. K. Robertson, R. T. Campbell
Journal: BMJ (1945)

arteries can be affected by pathological spasm sufficient to pro- duce migraine.Further investigation into the efficacy of the method described can best be carried out by the general practitioner, who has the opportunity of closely observing his cases.It should thus soon be possible accurately to assess the value of this treatment.
Prescription Drug Abuse
Authors: Catherine S. Hwang, Lydia W. Turner, Stefan P. Kruszewski, Andrew Kolodny, G. Caleb Alexander
Journal: JAMA Internal Medicine (2014)

Jean-Pascal Fournier, MD, PhD; Laurent Azoulay, PhD; Hui Yin, MSc; Jean-Louis Montastruc, MD, PhD; Samy Suissa, PhD
Recent Advances in Gastroenterology
Authors: Robert A. Levine
Journal: JAMA (1977)

The major subjects covered in this new edition continue to emphasize developments in a wide area of adult and pediatric medicine and include the following topics: physiology of the gastroesophageal junction and hiatus hernia, fat absorption, hormone-secreting tumors of the gastrointestinal tract, the effects of massive small-bowel resection, connective tissue disorders affecting the gastrointestinal tract, the use and abuse of laxatives, alcohol and the gastrointestinal tract, endoscopic cannulation of the papilla of Vater, clinical aspects of bile acid metabolism, shunts for hepatic disease, liver disease in infants and children, and cystic fibrosis of the pancreas. This multiple-authored book continues to be an extremely well-written, carefully edited, clear, and informative review of new developments in gastro-enterology. The fund of information it contains is exemplary and its contents diversified. Illustrations are clear and informative. Only rare spelling mistakes can be found. The index is complete. The subheadings in each chapter are helpful.
Interatrial Communication and Left Atrial Hypertension
Authors: JOHN ROSS, EUGENE BRAUNWALD, DEAN T. MASON, NINA S. BRAUNWALD, ANDREW G. MORROW
Journal: Circulation (1963)

The combination of left atrial hypertension and a small atrial septal defect was observed in three patients and was found to be responsible for a continuous heart murmur. Mitral stenosis was present in two patients, and mitral atresia in the third. The continuous murmurs were loudest over the lower sternum, were augmented by inspiration, and were reduced or abolished by the Valsalva maneuver. Cardiac catheterization studies demonstrated the presence of a left-to-right shunt at the atrial level in each instance. The continuous murmurs were localized to the right atrium by intracardiac phonocardiography in two patients, and alterations in the interatrial pressure gradient during respiratory maneuvers were documented.