tbuckley/cabot-search huggingface dataset:
The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans
Authors: Z. Vajo
Journal: Endocrine Reviews (2000)

Achondroplasia, the most common form of short-limbed dwarfism in humans, occurs between 1 in 15,000 and 40,000 live births.More than 90% of cases are sporadic and there is, on average, an increased paternal age at the time of conception of affected individuals.More then 97% of persons with achondroplasia have a Gly380Arg mutation in the transmembrane domain of the fibroblast growth factor receptor (FGFR) 3 gene.Mutations in the FGFR3 gene also result in hypochondroplasia, the lethal thanatophoric dysplasias, the recently described SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) dysplasia, and two craniosynostosis disorders: Muenke coronal craniosynostosis and Crouzon syndrome with acanthosis nigricans.Recent evidence suggests that the phenotypic differences may be due to specific alleles with varying degrees of ligand-independent activation, allowing the receptor to be constitutively active.Since the Gly380Arg achondroplasia mutation was recognized, similar observations regarding the conserved nature of FGFR mutations and resulting phenotype have been made regarding other skeletal phenotypes, including hypochondroplasia, thanatophoric dysplasia, and Muenke coronal craniosynostosis.These specific genotype-phenotype correlations in the FGFR disorders seem to be unprecedented in the study of human disease.The explanation for this high degree of mutability at specific bases remains an intriguing question.(Endocrine Reviews 21: 23-39, 2000) I. Introduction II.Fibroblast Growth Factor Receptor 3 III.Clinical and Molecular Studies A. The achondroplasia family of skeletal dysplasias B. Craniosynostosis disorders IV. Biochemical Analysis of FGFR3 Mutations V. GH Treatment VI.
Clinical spectrum of pseudomembranous colitis
Authors: R. C. Cammerer
Journal: JAMA (1976)

Five cases of pseudomembranous colitis (PMC) provided the opportunity for observation of clinical, endoscopic, and histologic features, and evaluation of potential modes of therapy. Although PMC may occur postoperatively or concomitantly with staphylococcal infection, it most frequently occurs following the administration of a variety of antibiotics. Patients with this disorder often have chronic, debilitating diseases. The clinical course may vary from a self-limited diarrheal illness to a fatal process. Onset with abdominal pain, diarrhea, and fever is characteristic. Barium enema contrast findings are nonspecific. Proctoscopy usually permits an accurate diagnosis. In the typical case, multiple elevated nodules formed by cream-colored plaques of pseudomembrane are scattered about the inflamed mucosa. Biopsy of these nodular lesions will confirm the diagnosis. Therapy must be individualized. (<i>JAMA</i>235:2502-2505, 1976)
Nurses' Guide to Surgical Bandaging and Dressings.
Journal: JAMA (1904)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Tolbutamide pharmacogenetics and the UGDP controversy
Authors: J. Scott
Journal: JAMA (1979)

We analyzed the relationship between the pharmacogenetics of tolbutamide metabolism and the controversial University Group Diabetes Program (UGDP) study. Before the institution of that study, the extent of genetic control over the variation in the rate of tolbutamide metabolism was unknown, and all subjects included in the tolbutamide treatment group were given 1,500 mg/day of tolbutamide in a fixed dosage. We addressed the hypothesis that high accrued blood levels of tolbutamide in genetically predisposed slow inactivators might have contributed to the toxic effects reported by the UGDP study. This proposal is based on recent findings from population, twin, and family studies that tolbutamide metabolism is under monogenic control, with nearly one fourth of the population classified as slow inactivators. (<i>JAMA</i>242:45-48, 1979)
What the clinician should know about the major histocompatibility complex
Authors: J. N. Goldman
Journal: JAMA (1981)

THE MAJOR histocompatibility complex (MHC) is a closely linked group of genes that provide the code for the structure of cell surface antigens and several plasma proteins, as well as for factors that regulate immune responses to a variety of antigens. The MHC plays a major role in tissue transplantation and in a wide variety of diseases in man. Because of its important relationships to clinical medicine and because of a number of unique properties of the MHC itself, this group of genes has received an enormous amount of attention in recent years. This is underscored by the fact that the Nobel Prize in Medicine and Physiology this year was awarded to three investigators (Drs Baruj Benacerraf, Jean Dausset, and George Snell) for work related to the MHC. It is the purpose of this brief review to outline major aspects of the MHC in man and experimental animals and to
Chemical Laboratory Manual. Prepared to Accompany Bogert's "Fundamentals of Chemistry." A Text-Book for Nurses and Other Students of Applied Science.
Journal: JAMA (1927)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Urokinase pulmonary embolism trial. Phase 1 results: a cooperative study
Journal: JAMA (1970)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Eye protection in the metal working industry.
Journal: BMJ (1990)

gastro-oesophageal reflux disease.Furthermore, the advice to tailor treatment to the condition being treated is, in my view, best achieved by varying the duration of treatment.This is far more pragmatic as the policy of tailoring the degree of acid suppression to the condition being treated would require accurate endoscopic diagnosis in all cases.Though this is desirable, it would be quite impracticable even when open access endoscopy is readily available.
Desipramine Poisoning
Authors: Paul Treitman
Journal: JAMA (1972)

<h3>To the Editor.—</h3> In recent years an increasing number of cases of imipramine hydrochloride (Tofranil) poisonings have been reported. Physicians are now more acutely aware of the potential lethality of excessive ingestion. These dangers characteristically include convulsion, coma, cardiac arrhythmias, respiratory depression, and hypotension. Desipramine hydrochloride (Norpramin) poisoning in childhood has not been reported in the American literature, so far as we know. Desipramine is an antidepressant drug of the tricyclic type with a more rapid onset of action than the chemically related drug, imipramine. Desipramine is thought to be the primary active metabolite of imipramine. Because of this relationship, excessive ingestion of this drug should alert the physician of the potential of rapid onset of severe symptoms requiring immediate vigorous attention. <h3>Report of a Case.—</h3> A previously healthy 19-month-old boy weighing 11 kg (24.3 lb) ingested 28 tablets of desipramine containing 25 mg each. This is equivalent to a
Familial macrocytosis
Authors: Leonardo A. Sechi, Stefano De Carli, Ettore Bartoli
Journal: American Journal of Hematology (1994)

TABLE 1. Two Patients With Benign Familiar MacrocytosisMother Daughter that the specimen from a subject with a silent mutation 1311 COT in the G6PD gene showed a clear mobility shift (Fig. lB).These findings indicate that a sufficient amount of DNA can be prepared from cellulose-treated blood using simple procedures.Since the DNA obtained was sufficiently long and the yield was good enough for the repeated PCR, it may also be suitable for direct sequencing or other PCR based techniques as well as the PCR-SSCP analysis.
Hypoglycemic Treatment
Journal: JAMA (1980)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Medico-Surgical Tributes to Harold Brunn: A Series of Essays on Various Aspects of Surgery and Medicine Written by His Pupils and Friends
Journal: JAMA (1942)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Infectious Disinfectors.
Authors: W. Thornton Parker
Journal: JAMA (1897)

Groveland, Mass. Aug. 21, 1897. <h3>To the Editor:</h3> —The following case was recently reported in the<i>Journal of Hygiene</i>, France: "A child suffering from a light attack of scarlatina is confined to his room for forty days, the room is disinfected by the board of health. Two days later the child presents undoubted symptoms of diphtheria—a patch on one tonsil. The physician in attendance does not doubt that the disinfectors brought this disease, as the child had seen no one but them and the physician who had himself not been exposed." Such a theory seems hardly tenable. I have had cases in my own practice, of mixed infection, and others where diphtheria has followed scarlet fever, the patient ill at first with all the symptoms of scarlet fever and then with those of diphtheria. In none of these cases were cultures made demonstrating the presence of Klebs-Löffler bacilli. More recently
Digest
Authors: I. Forgacs
Journal: Gut (2002)

<b>Objective:</b> To examine the risk of depression and stress related disorders as a function of occupational exposure to violence and threats. <b>Design:</b> Population based nested case-control study. <b>Setting:</b> All gainfully employed Danes. <b>Cases and controls:</b> 14 166 hospital inpatients and outpatients, aged 18–65, treated for affective or stress related disorders during 1995–1998 selected from The Danish Psychiatric Central Research Register and 58 060 controls matched for age, sex, and time, drawn from Statistics Denmark’s Integrated Database for Labour Market Research. <b>Main outcome measure:</b> Clinical psychiatric diagnosis (WHO ICD-10) of affective (F30–39) or stress related (F40–48) disorders compared with controls by the occupation held the year before treatment. The occupation held the year before treatment was used as exposure proxy. <b>Results:</b> Potential exposure to occupational violence is associated with significantly increased relative risks of both disorders in either sex (women: depression RR 1.45 CI 1.27 to 1.65, stress RR 1.32 CI 1.19 to 1.46; men: depression RR 1.48 CI 1.18 to 1.86, stress RR 1.55 CI 1.29 to 1.84). Work related threats are associated with increase in the risk of depression in women (RR 1.48 CI 1.23 to 1.79) and the risk of stress related disorders in men (RR 1.59 CI 1.32 to 1.91). Risks rose with increasing prevalence of violence and threats. The results remain significant and only slightly attenuated after controlling for extent of professional contact with people other than colleagues. <b>Conclusions:</b> Employment in occupations involving exposure to work related threats and violence is a risk factor for depression and stress related disorders in both sexes. These findings have implications for health and safety at work policies.
The mammalian kidney
Authors: D. C. Dobyan
Journal: JAMA (1980)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Miss Mitchell
Authors: JOHN L. COULEHAN
Journal: Annals of Internal Medicine (1985)

Ad Libitum1 July 1985Miss MitchellJOHN L. COULEHAN, M.D.JOHN L. COULEHAN, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-103-1-163 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptThey throw rocks at me, doctor, the hoodlums, delinquents, that's what they are.I don't know how I'll survive when they're out of school for the summer, I won't survive. No one can control them anymore. Why their mothers won't even try! The other woman across the landing stands out in the stairwell and curses at her sons. They can't be more than eight or nine, and the language! They shout obscenity back at their own mother! Good Lord. I don't believe there's an ounce of restraint. Not one. Certainly they don't learn it from the mothers, no restraint, no... This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics 1 July 1985Volume 103, Issue 1Page: 163-163 ePublished: 1 December 2008 Issue Published: 1 July 1985 PDF downloadLoading ...
ABSTRACTS
Authors: STANFORD WESSLER
Journal: Circulation (1960)

Inhalation of amyl nitrite produces an initial drop in systemic blood pressure followed by increased filling of the right heart and increased forward flow.The authors describe its effect on systolic murmurs of various causes and its use in diagnosis.Murmurs were carefully noted and aniyl nitrite was then inhaled.Marked tachycardia and flush signaled the end point.Hypo- tension and tachyeardia persisted for 20 to 30 seconds.The aortic second sound always be- came softer because of hypotension and the first sound much louder because of tachyeardia.A summation gallop frequently developed.Left- sided regurgitant systolic murmurs became shorter and softer, the change being maximal shortly after inhalation.In small ventricular septal defects, the softening and shortening of the murmur were shown to be due to the pronounced drop in pressure gradient between left and right ventricle.In large ventricular septal defects, the effect was less consistent.In patent ductus, a marked reduction of the aorticopulmo- nary gradient accounted for the disappearance of the diastolic component and marked shortening of the systolic murmur.In mitral incompetence, the left ventricular-left atrial gradient was re- duced, and the murmur was shortened but the murmur of tricuspid incompetence was increased.With the exception of Fallot's tetralogy, ejection murmurs became louder.The increase in loudness was much greater and more sustained when the im-urmur resulted from organic stenosis than from
<i>Toxocara</i>-induced Eosinophilic Inflammation: Airway Function and Effect of Anti-IL-5
Authors: Jannie Buijs, Martin W. E. C. Egbers, Wil H. Lokhorst, Huub F. J. Savelkoul, Frans P. Nijkamp
Journal: American Journal of Respiratory and Critical Care Medicine (1995)

The immunoinflammatory response to parasitic nematode infections and allergic diseases have some similarities, the most profound being the increases in eosinophils and serum total IgE concentration. Whether parasitic infections stimulate or inhibit allergic asthma is a matter of debate. We investigated the effect of Toxocara canis (T. canis) infection on airway function in BALB/C mice at various days post-infection. Within 24 h after infection, the trachea responded hyperreactive to carbachol stimulation. Eosinophils, and to a lesser degree lymphocytes, infiltrated the airways causing interstitial and alveolar inflammation (7 d postinfection). Concurrently with cell infiltration, the trachea became hyporesponsive to carbachol whereas the pulmonary resistance was increased and the dynamic compliance decreased. The hyporeactive response could be simulated in vitro by incubating normal tracheae with eosinophil-enriched bronchoalveolar lavage cells obtained from infected mice. The response depended on the number of cells added to the medium, a lower number causing a hyper- and a higher number a hyporeactive response. Anti-interleukin-5 (anti-IL-5) producing hybridoma cells given simultaneously with T. canis infection inhibited eosinophil infiltration in the airways but not that of lymphocytes. Anti-IL-5 treatment prevented tracheal hyporeactivity but not perivascular and peribronchial edema, increased pulmonary resistance, or decreased dynamic compliance. Treatment with isotype control antibody did not affect eosinophil number nor the observed changes in airway functions. It was concluded that T. canis-induced airway inflammation coincided with increased pulmonary resistance, decreased dynamic compliance, and perivascular/peribronchial edema. These phenomena were independent on the presence of eosinophils, whereas tracheal hyporeactivity was clearly associated with airway eosinophilia.
New concepts relating to the preexcitation syndrome
Authors: M. I. Ferrer
Journal: JAMA (1967)

Since its original description in 1930, considerable controversy has centered on the basic explanation for the anomalous atrioventricular (AV) conduction seen in the preexcitation or Wolff-Parkinson-White (WPW) syndrome.<sup>1</sup>An abnormally short PR interval associated with a prolonged QRS containing a delta wave (an initial slurring or thickening of the first wave of the QRS complex, be this an R or an S) in the presence of sinus rhythm is the classic criteria for its electrocardiographic diagnosis.<sup>2</sup>The delta wave represents the early excitation of the ventricles. However, in addition to this form of anomalous AV conduction, several variants have come to be recognized.<sup>3-5</sup>These include a short PR interval (less than 0.12 seconds) with a normal QRS, ie, a QRS with normal duration and no delta wave and a normal or even prolonged PR interval coupled to a prolonged QRS containing a delta wave. Recent and very