tbuckley/cabot-search huggingface dataset:
Recurrent KIND1 (C20orf42) gene mutation, c.676insC, in a Brazilian pedigree with Kindler syndrome
Authors: B.C.F. Martignago, J.E. Lai-Cheong, L. Liu, J.A. Mc Grath, T.F. Cestari
Journal: British Journal of Dermatology (2007)

Conflicts of interest: none declared. Sir, Kindler syndrome (KS; OMIM 173650) is a rare autosomal recessive skin and mucous membrane disorder associated with trauma‐induced blisters and erosions, poikiloderma and variable degrees of photosensitivity.1 In 2003, the KS gene KIND1, also known as C20orf42 was identified for this genodermatosis through genetic linkage and candidate gene analysis.2, 3 Loss‐of‐function mutations were found in KIND1 encoding a 677 amino acid protein called kindlin‐1 which is involved in linking the actin cytoskeleton to focal contacts, predominantly in basal keratinocytes.2–5 Previously, our group reported the mutation c.676insC in six Pakistani families, and this frameshift was shown to have occurred on the same allelic background in five of the six families described. In one family, however, the mutated allele displayed an alternative haplotype with six out of the nine intragenic polymorphisms being different.6 In this report, we describe the identification of the same homozygous KIND1 mutation, c.676insC, in a Brazilian pedigree. Interestingly, the Brazilian patients were found to have a different haplotype from the reported Pakistani haplotype. Moreover, two new different KIND1 mutant haplotypes were demonstrated in the affected Brazilian individuals indicating two separate origins for the c.676insC mutant alleles in one pedigree. Of note, in the Brazilian pedigree, we also report the very unusual finding of intragenic nonpathogenic heterozygous single nucleotide polymorphisms (SNPs) alongside the same homozygous pathogenic KIND1 mutation in two branches of the same family.
Multifocal Choroiditis and Choroidal Neovascularization Associated with the Multiple Evanescent White Dot and Acute Idiopathic Blind Spot Enlargement Syndrome
Authors: David Callanan, J. Donald M. Gass
Journal: Ophthalmology (1992)

Background: Several recent articles have described syndromes in which there is enlargement of the blind spot associated with retinal lesions. These have included the multiple evanescent white dot syndrome, acute macular neuroretinopathy, acute idiopathic blind spot enlargement syndrome, and multifocal choroiditis or pseudo presumed ocular histoplasmosis syndrome (pseudo POHS). Methods: The authors reviewed the records of seven patients in whom signs and symptoms of acute enlargement of the blind spot and pseudo POHS developed. Results: All seven patients had photopsia accompanying enlargement of the blind spot during their illness. Four had transient white spots as seen in the multiple evanescent white dot syndrome. All presented with or developed chorioretinal scars or neovascularization similar to that seen in multifocal choroiditis or pseudo POHS. In four of the seven patients, POHS-like scars developed only in the eye that was symptomatic with blind spot enlargement and photopsia. Five of the 7 had visual acuity of 20/25 or better at the last follow-up. Conclusion: It would appear that there is an overlap in the clinical findings of all of these syndromes and that there may be a common link in their etiology. Background: Several recent articles have described syndromes in which there is enlargement of the blind spot associated with retinal lesions. These have included the multiple evanescent white dot syndrome, acute macular neuroretinopathy, acute idiopathic blind spot enlargement syndrome, and multifocal choroiditis or pseudo presumed ocular histoplasmosis syndrome (pseudo POHS). Methods: The authors reviewed the records of seven patients in whom signs and symptoms of acute enlargement of the blind spot and pseudo POHS developed. Results: All seven patients had photopsia accompanying enlargement of the blind spot during their illness. Four had transient white spots as seen in the multiple evanescent white dot syndrome. All presented with or developed chorioretinal scars or neovascularization similar to that seen in multifocal choroiditis or pseudo POHS. In four of the seven patients, POHS-like scars developed only in the eye that was symptomatic with blind spot enlargement and photopsia. Five of the 7 had visual acuity of 20/25 or better at the last follow-up. Conclusion: It would appear that there is an overlap in the clinical findings of all of these syndromes and that there may be a common link in their etiology.
Firearm Laws, Patients, and the Roles of Psychiatrists
Authors: Donna Norris
Journal: American Journal of Psychiatry (2006)

Objective: Persons with mental illness and/or substance abuse are frequently perceived by the public to be dangerous. This has resulted in an increase in state legislation restricting their ability to purchase, possess, register, obtain licensure, retain, and/or carry a firearm of any sort. The purpose of this article is to educate clinicians about the impact of firearms statutes and restrictions for their patients. Many state statutes mandate that treating psychiatrists report such gun possession to state justice or police departments. Psychiatrists may also have a statutory role in an appeals process. Method: The firearms statutes of the 50 states, the District of Columbia, and Puerto Rico and the Federal National Firearms Act were surveyed, with particular attention paid to the ability of persons with mental illness and/or alcohol or substance abuse to obtain firearms. The results were tabulated. Results: These statutes are not uniform. They vary in their definition of mental illness, the type and duration of gun restriction, reporting practices, the confidentiality of medical information, and the immunity of clinician reporters and appeals processes. Conclusion: Clinicians would be wise to familiarize themselves with the provisions of the relevant statutes in their particular states. This will allow them to identify the consequences to their firearm-possessing patients, understand their own roles and obligations—if any—and better consider potential clinical and ethical issues for particular patients.
The Possible Role of the Community Hospital in Graduate Training in Surgery
Authors: Frank Glenn
Journal: New England Journal of Medicine (1947)

AMERICAN medicine and surgery have made great strides since ether anesthesia was first employed in Boston a hundred years ago. Hospitals during this century have become more numerous and greatly improved, the present trend being toward caring for an ever-increasing proportion of the population. These hospitals have become one of the important institutions of almost every community throughout the country. The part that they will fulfill in the health of the Nation in the future, it seems, will be even greater. The possible role of the community hospital in surgical training is but one aspect of the question.In presenting . . .
THE BLOOD PRESSURE OF HEALTHY MEN AND WOMEN
Authors: BRANDRETH SYMONDS
Journal: JAMA (1923)

This study is based on the record of risks accepted at standard rates by the Mutual Life Insurance Company of New York for the years 1907 to 1919, inclusive. More than 95 per cent, of the readings were taken by our New York City examiners and our medical referees and their immediate assistants. In the earlier years, no readings were taken except by these examiners, but in the later years a few reports were made by our other examiners in the field. These reports amounted to less than 6 per cent in the year 1919. In the earlier years, most of the readings were obtained by palpation, but since 1915 nearly all of them have been taken by auscultation. The readings were taken while the applicant was seated, and the apparatus was at about the level of his heart. A wide cuff was employed, and in most cases the Tycos
Controversy over mammography screening.
Authors: J. Reidy, O. Hoskins
Journal: BMJ (1988)

increase in either the number of medical graduates or the length of their postgraduate training.These are controversial matters with financial and pro- fessional implications.Junior doctors have been campaigning against their long working hours, and the BMA has been negotiating with 'the health departments to reduce these hours (p 937).But unless the NHS comes up with a solution soon consumer opinion will force one on them -as has already happened in the United States (p 938). 17After all, would you like to put your well being in the hands of a pilot who has been working without rest for 30 hours or more?
Treatment of fractures of the long bones in brain stem injury.
Authors: P Merianos
Journal: BMJ (1975)

Our patient differs from most others described in that the symptoms and E.C.G. changes were readily reproduced on swallowing, without resort to balloon dilatation of the oesophagus.In addition his syncope was a presenting symptom of oesophageal carcinoma.Since an oesophageal lesion is commonly found in patients with "swallow syncope" we suggest that a barium swallow should be performed in all patients with this syndrome, even in the absence of dysphagia.We are grateful to Dr. R. W. Portal for permission to report on one of his patients and for his help with the preparation of the manuscript, and for the help of Mr. K. Moghissi who performed the operation.
Rubidomycin in Acute Leukaemia in Adults
Authors: J. S. Malpas, R. B. Scott
Journal: BMJ (1968)

In a preliminary study rubidomycin was found capable of inducing remission in adults with acute leukaemia, the remission rate in acute myeloblastic leukaemia comparing favourably with that achieved with previous forms of therapy. Marrow aplasia and cardio-toxicity occurred in a number of patients. Supportive measures during the former and early recognition by frequent electrocardiography can do much to mitigate these toxic effects.
Mucoid Impaction of a Bronchus
Authors: Richard A. Mintzer
Journal: JAMA (1978)

<h3>Common</h3> Allergic bronchopulmonary aspergillosis (ABPA) Asthma, other allergic states <h3>Uncommon</h3> Bronchial adenoma Bronchial atresia Bronchogenic carcinoma Bronchogenic cyst Idiopathic mucoid impaction <h3>Diagnosis</h3> Allergic bronchopulmonary aspergillosis. <h3>Comment</h3> The posteroanterior chest roentgenogram of a 19-year-old asthmatic woman shows a poorly defined homogenous density in the left infrahilar region and linear (toothpaste) shadows extending upward and laterally from the left superior hilar region (Fig 1). A bronchogram shows marked dilation of the central bronchi in both the upper and lower lobes, with a relatively normal appearance peripherally (Fig 2). The homogenous densities demonstrated on the chest roentgenogram conform to the areas of dilated central bronchi and are the result of plugging of these bronchi by retained mucus secretions. Mucoid impaction of a bronchus may result from a number of causes. The impaction is proximal and extends into second-, third-, and fourthorder bronchi, which are filled with
Biological Ablation of Sentinel Lymph Node Metastasis in Submucosally Invaded Early Gastrointestinal Cancer
Authors: Satoru Kikuchi, Hiroyuki Kishimoto, Hiroshi Tazawa, Yuuri Hashimoto, Shinji Kuroda, Masahiko Nishizaki, Takeshi Nagasaka, Yasuhiro Shirakawa, Shunsuke Kagawa, Yasuo Urata, Robert M Hoffman, Toshiyoshi Fujiwara
Journal: Molecular Therapy (2014)

Currently, early gastrointestinal cancers are treated endoscopically, as long as there are no lymph node metastases. However, once a gastrointestinal cancer invades the submucosal layer, the lymph node metastatic rate rises to higher than 10%. Therefore, surgery is still the gold standard to remove regional lymph nodes containing possible metastases. Here, to avoid prophylactic surgery, we propose a less-invasive biological ablation of lymph node metastasis in submucosally invaded gastrointestinal cancer patients. We have established an orthotopic early rectal cancer xenograft model with spontaneous lymph node metastasis by implantation of green fluorescent protein (GFP)-labeled human colon cancer cells into the submucosal layer of the murine rectum. A solution containing telomerase-specific oncolytic adenovirus was injected into the peritumoral submucosal space, followed by excision of the primary rectal tumors mimicking the endoscopic submucosal dissection (ESD) technique. Seven days after treatment, GFP signals had completely disappeared indicating that sentinel lymph node metastasis was selectively eradicated. Moreover, biologically treated mice were confirmed to be relapse-free even 4 weeks after treatment. These results indicate that virus-mediated biological ablation selectively targets lymph node metastasis and provides a potential alternative to surgery for submucosal invasive gastrointestinal cancer patients.
Double-Phase Tc-99m Sestamibi Scintigraphy in the Preoperative Location of Lesions Causing Hyperparathyroidism
Authors: ISABEL BLANCO, JOSE MANUEL CARRIL, IGNACIO BANZO, REMEDIOS QUIRCE, CEFERINO GUTIERREZ, ISABEL URIARTE, ALFONSO MONTERO, NICOLAS KURT VALLINA
Journal: Clinical Nuclear Medicine (1998)

Hyperparathyroidism (HPT) is one of the most prevalent endocrine diseases, for which the only effective treatment is surgery. The use of imaging techniques in the preoperative localization of the hyperfunctioning glands is the subject of controversy. The purpose of this paper is to assess the use of double-phase scintigraphy with Tc-99m sestamibi in the localization of lesions causing HPT. We used scintigraphy to preoperatively examine 41 patients, 31 of whom had primary HPT and 10 with secondary HPT. We acquired two anterior view planar images of the neck and chest 10 minutes and 3 hours after injection of Tc-99m sestamibi. Final diagnosis, determined with biopsy, was adenoma in 26 patients, 24 of whom had a positive scintigraphic study (sensitivity 92%), with only two false negative results. In the 14 cases of parathyroid hyperplasia, scintigraphy was also positive, and 62% (30/48) of the excised glands were identified by Tc-99m sestamibi. The radioisotope study was of particular interest in the six patients who previously had undergone surgery, since all the studies were positive; in two patients, additional diseased glands were located in the neck, and an ectopic adenoma was found in the remaining four patients. A fifth ectopic lesion was also sestamibi-positive and, in this case, the scintigraphic result was a direct indication for mediastinal surgery. There were no false positive results, even in patients with multinodular goiter. We conclude that, due to its high sensitivity and the ease with which it is performed, double-phase scintigraphy with Tc-99m sestamibi is the preferred technique for the preoperative localization of diseased glands in patients with HPT, especially in cases of parathyroid adenoma, including those with aberrant location. Its use is of particular interest in patients who previously have undergone surgery.
Subarachnoid Haemorrhage in Identical Twins
Authors: J. G. O'Brien
Journal: BMJ (1942)

B, excreted and the data subsequently recorded for the placenta these data are here summarized independently.The placentae were collected as soon as possible after labour and weighed without cord and membranes.The fresh tissue was then fed direct to rats, usually 6 for each placenta, at a dose level of 71 g. a rat.The concentrations of vitamin B, We wish to thank Dr. Allen Daley, Chief Medical Officer of the L.C.C., for granting us the facilities for this investigation
868-2 Cardiovascular risk factors and outcomes in patients with definite endocarditis: The international collaboration on endocarditis - prospective cohort study
Authors: Christopher H Cabell, Stamatios Lerakis, Christine Selton-Suty, Andrew Wang, Vance G Fowler, Gilbert Habib, Carlos Mestres, Juan Carlos Pare, Yvette Bernard, Arnold Bayer, Elias Abrutyn, Bruno Hoen, Jose M Miro, G.Ralph Corey, Gail Peterson
Journal: Journal of the American College of Cardiology (2004)
383 Comprehensive HCV genome-wide analysis of CD4+ and CD8+ T cells reveals hierarchy of immunodominance
Authors: S SMYKPEARSON, I TESTER, A SASAKI, H ROSEN
Journal: Hepatology (2003)

Pseudomonas aeruginosa remains one of the major clinical pathogens that burden immuno-compromised patients and patients with cystic fibrosis. The present study aimed to define the role of the lectin pathway of complement in the immune-defence against P. aeruginosa in a mouse model of invasive pneumonia. Using in vitro assays specific for each of the three complement pathways, we demonstrate that some strains of P. aeruginosa bind lectin pathway recognition sub-components and initiate complement activation in a lectin pathway-specific mode. All of the tested strains activated complement via classical and alternative pathways. We assessed the importance of lectin pathway activation in fighting P. aeruginosa infections by testing a lectin pathway activating strain in a mouse model of intra-nasal infection. MASP-2 (mannan binding lectin associated serine protease-2) deficient mice, which have no lectin pathway activity, had no significant survival disadvantage compared to wild type littermates (72.7% and 81.8% survival, respectively, p = 0.48). Likewise, no difference in opsonising activity was seen between MASP-2 sufficient and MASP-2 deficient mouse sera. Moreover, cytokine expression profiles in the lungs of WT mice and MASP-2−/− mice were similar throughout the course of P. aeruginosa infection. We conclude that the lectin pathway does not play an essential role in fighting P. aeruginosa infection in mice.
Misoprostol Reduces Serious Gastrointestinal Complications in Patients with Rheumatoid Arthritis Receiving Nonsteroidal Anti-Inflammatory Drugs
Authors: Fred E. Silverstein
Journal: Annals of Internal Medicine (1995)

Objective: To investigate whether concurrent administration of misoprostol reduces the occurrence of serious upper gastrointestinal complications, such as perforation, gastric outlet obstruction, or bleeding, in patients with rheumatoid arthritis who are receiving nonsteroidal anti-inflammatory drugs (NSAIDs). Design: 6-month randomized, double-blind, placebo-controlled trial. Setting: 664 clinical practices of family medicine, internal medicine, or rheumatology in the United States and Canada. Patients: 8843 men and women (mean age, 68 years) receiving continuous therapy with any of 10 specified NSAIDs for control of symptoms of rheumatoid arthritis. Patients were enrolled between July 1991 and August 1993. Intervention: Patients were randomly assigned to receive 200 µg of misoprostol or placebo four times a day. Measurements: Development of serious upper gastrointestinal complications detected by clinical symptoms or findings (not by scheduled endoscopy). Results: Serious upper gastrointestinal complications were reduced by 40% (odds ratio, 0.598 [95% CI, 0.364 to 0.982; P = 0.049]) among patients receiving misoprostol (25 of 4404 patients) compared with those receiving placebo (42 of 4439 patients). During the first month, more patients receiving misoprostol (20%) than placebo (15%) withdrew from the study, primarily because of diarrhea and related problems (P < 0.001). Risk factors for serious upper gastrointestinal complications were increasing age, history of peptic ulcer or bleeding, and cardiovascular disease. Patients with all four risk factors would have a 9% risk for a major complication in 6 months. Conclusions: In older patients with rheumatoid arthritis, misoprostol reduced serious NSAID-induced upper gastrointestinal complications by 40% compared with placebo.
A DEVICE FOR ECONOMICALLY OILING PONDS AND OTHER WATERWAYS
Authors: William O. Wetmore
Journal: JAMA (1926)

A device has just been perfected for economically oiling ponds and other waterways in mosquito control and is conceived as a practical method for having oil companies deliver oil to boards of health and others. The invention consists of a conical can, which is constructed with a diaphragm near the bottom, the lower chamber thus formed to contain weight, such as sand, and an upper chamber, which will contain oil. Both chambers are equipped with a cap for filling. A tube is soldered to the outside of and runs the length of the oil chamber, with an inlet at the top and opening into the oil chamber at the bottom. The apex of the oil chamber has a wire wick of the desired size to permit the oil to escape in droplets. In practical use, the can is tossed into a pond; the weight sinks it; air escapes
A New Physician Supply Policy Is Needed
Authors: Eli Ginzberg
Journal: JAMA (1983)

THE PUBLICATION of "Estimates of Physician Requirements for 1990 for the Specialties of Neurology, Anesthesiology, Nuclear Medicine, Pathology, Physical Medicine and Rehabilitation, and Radiology: A Further Application of the GMENAC Methodology" (p 2623) covering six specialties that were not included in the original GMENAC report is a reminder that the findings of Dr Alvin Tarlov and his legion of collaborators remain on the nation's health agenda. There are many important questions about the future supply of physicians that warrant attention by members of the profession and its leaders. These include the determination of whether an oversupply threatens or is already here; the criteria for reaching a judgment about the adequacy of the supply; the extent to which factors on the demand side, eg, pressures to reduce reimbursement or the growing number of the elderly, will affect physicians' work loads; conflicts with nurse practitioners and nonmedical providers over "turf"; the rate
Of Apes and Men: The New Chief of Medicine
Authors: GEORGE DUNEA
Journal: Annals of Internal Medicine (1979)

Ad Libitum1 November 1979Of Apes and Men: The New Chief of MedicineGEORGE DUNEA, M.D.GEORGE DUNEA, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-91-5-790 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThe appointment of Dr. Mumbo as Chairman of the Second Chimpanzee Department at the Simian Medical School was greeted with much satisfaction in academic circles. "It is a great day for our school," said Dean Gbonga, swinging from his favorite tree, "and we expect great things from our new chairman."A fine scientist, tree-top-trained Dr. Mumbo has had a distinguished career. He has written 200 papers, 30 books, and 12 000 abstracts on the electrical monocyte in the nuciform sac of the primitive tree-shrew (family Tupaiidae); and he is also credited with developing the polyvalent vaccine that saved the chimpanzee... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 November 1979Volume 91, Issue 5Page: 790-790KeywordsAcademic medicineMonocytesScientistsVaccines ePublished: 1 December 2008 Issue Published: 1 November 1979 PDF downloadLoading ...