tbuckley/cabot-search huggingface dataset:
Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema
Authors: Kristiana Gordon, Dörte Schulte, Glen Brice, Michael A. Simpson, M. Guy Roukens, Andreas van Impel, Fiona Connell, Kamini Kalidas, Steve Jeffery, Peter S. Mortimer, Sahar Mansour, Stefan Schulte-Merker, Pia Ostergaard
Journal: Circulation Research (2013)

Mutations in vascular endothelial growth factor (VEGF) receptor-3 (VEGFR3 or FLT4) cause Milroy disease, an autosomal dominant condition that presents with congenital lymphedema. Mutations in VEGFR3 are identified in only 70% of patients with classic Milroy disease, suggesting genetic heterogeneity.To investigate the underlying cause in patients with clinical signs resembling Milroy disease in whom sequencing of the coding region of VEGFR3 did not reveal any pathogenic variation.Exome sequencing of 5 such patients was performed, and a novel frameshift variant, c.571_572insTT in VEGFC, a ligand for VEGFR3, was identified in 1 proband. The variant cosegregated with the affected status in the family. An assay to assess the biological function of VEGFC activity in vivo, by expressing human VEGFC in the zebrafish floorplate was established. Forced expression of wild-type human VEGFC in the floorplate of zebrafish embryos leads to excessive sprouting in neighboring vessels. However, when overexpressing the human c.571_572insTT variant in the floorplate, no sprouting of vessels was observed, indicating that the base changes have a marked effect on the activity of VEGFC.We propose that the mutation in VEGFC is causative for the Milroy disease-like phenotype seen in this family. This is the first time a mutation in one of the ligands of VEGFR3 has been reported to cause primary lymphedema.
Modern Ophthalmology. In 4 vol. Vol 1: Basic Aspects. Vol 2: Systemic Aspects
Authors: Arnall Patz
Journal: JAMA (1964)

Here we have two volumes of a new four-volume series on modern ophthalmology. Volume I deals with basic sciences related to ophthalmology and Volume II primarily with systemic diseases related to ocular disorders. The author states that Volumes III and IV will contain chapters on topical ophthalmology, with emphasis on etiological aspects. The final section of Volume IV will discuss surgical procedures. In both volumes Dr. Sorsby has gathered an excellent group of contributors. In Volume I the introductory chapter on "History of Ophthalmology," written by Sorsby, is superb. Here he presents a concise but adequate survey of the periods of ophthalmology and the historical aspects of specific ocular disorders. The basic subjects included in Volume I are anatomy, physiology, optics, and pharmacology. All of these sections are clearly written and adequately illustrated. Biochemistry, treated under the general section of physiology, lacks a detailed discussion of many of the biochemical
FOUR-PHASE BONE SCINTIGRAPHY AND OSTEOMYELITIS: A REEVALUATION.
Authors: G. Tronco, M. B. Tomas, C. J. Palestro
Journal: Clinical Nuclear Medicine (1999)

Scientific Abstracts And Posters From The 44Th Annual Meeting Of The Southwestern Chapter Of The Society Of Nuclear Medicine, And From The 12Th Northeastern Regional Scientific Meeting Of The New England And New York Chapters Of The Society Of Nuclear Medicine
Left Ventricular Noncompaction and Athletes
Authors: Sandra Secades, Maria Martín, Cesar Morís
Journal: JAMA Internal Medicine (2015)

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 Internal Medicine HomeNew OnlineCurrent IssueFor Authors Podcast 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) 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 Internal Medicine journal
Immunohistochemical analysis of nasal biopsies during rhinovirus experimental colds.
Authors: D J Fraenkel, P G Bardin, G Sanderson, F Lampe, S L Johnston, S T Holgate
Journal: American Journal of Respiratory and Critical Care Medicine (1994)

Human rhinoviruses (HRV) are an important cause of upper respiratory tract infection and are etiologically linked with asthma exacerbations. However, the mechanisms of virus-induced inflammation are largely unknown. We examined nasal mucosal biopsies for the presence of an associated inflammatory cellular infiltrate during experimental rhinovirus infection. A group of 21 adult volunteers (10 atopic) had baseline nasal biopsies, followed 2 wk later by inoculation with HRV Serotype 16. Nasal biopsies were taken on Day 4 of the cold and again 6-10 wk later. Infection was documented by symptom scores, viral culture, and seroconversion. The biopsies were fixed in acetone and processed into glycol methacrylate resin for semithin sectioning. Mast cells, eosinophils, lymphocytes, and neutrophils were identified with appropriate monoclonal antibodies and a streptavidin-biotin horseradish peroxidase technique. There were no significant changes in the numbers of inflammatory cells present during the cold or the convalescent period compared with baseline biopsies (Wilcoxon paired, p > 0.05). There were also no differences between normal and atopic groups. We suggest that rhinoviral colds are not associated with increased inflammatory cellularity and that other mechanisms, such as increased mediator release, are responsible for coryzal symptoms.
Management of Hypertension
Authors: Marvin Moser
Journal: JAMA (1976)

ARTICLES have recently appeared suggesting ways to improve physician compliance or adherence in the management of hypertension, a disease that requires continuous, long-term treatment and that most frequently is asymptomatic.<sup>1-3</sup>Patients with hypertension, unlike those with bursitis, high fever, or prominent symptoms, do not usually seek medical care and may be reluctant to accept care when it is suggested. Various methods have been used and advocated to increase patient adherence to a treatment program: the pill count, home blood pressures, drug detection tests, visiting nurse services, follow-up notices, and others. Some of these have been effective; often they are impractical. Too little attention is still being paid to the role of the physician in terms of his adherence to the management of hypertension. Several statistics stand out in a recent report from the National Heart and Lung Institute. Specifically, a definite increase has occurred in the number of patients
Congenital Mitral Valve Disease Associated with Coarctation of the Aorta
Authors: GLENN C. ROSENQUIST
Journal: Circulation (1974)

Fifty-three specimens in which the primary diagnosis in life was coarctation of the aorta were examined; only nine had a mitral valve of normal size and configuration. Ten specimens had a normally formed valve mechanism which was small in comparison to both tricuspid valve and left ventricle. Three other specimens had a normally formed but small valve which exhibited a short free margin of the anterior leaflet. The remaining 31 specimens demonstrated various anomalies which included some forms of parachute mitral valve. The spectrum of malformations may be divided into three basic types: some showed fused or closely apposed chordae tendineae, due to nondevelopment of the intervening space; in others the space between the papillary muscles and the ventricular wall was underdeveloped, which prevented the papillary muscles from moving independently of the ventricular wall. The third type was found in a case of parachute mitral valve, where the chordae tendineae were attached solely to the anterolateral papillary muscle, and the posteromedial papillary muscle was inserted directly into the valve, near the annulus. Although the spectrum of congenital anomalies reported here does not include all forms of mitral stenosis, it does indicate that mitral valve disease probably occurs more frequently in coarctation of the aorta than previously was recognized.
p35, the non-cyclin activator of Cdk5, protects podocytes against apoptosis in vitro and in vivo
Authors: Paul T. Brinkkoetter, Jimmy S. Wu, Takamoto Ohse, Ronald D. Krofft, Bernhard Schermer, Thomas Benzing, Jeffrey W. Pippin, Stuart J. Shankland
Journal: Kidney International (2010)
Photolocalized varicella in an adult
Authors: M. Sakiyama, H. Maeshima, T. Higashino, Y. Kawakubo
Journal: British Journal of Dermatology (2013)

Funding sources: none. Conflicts of interest: none declared. Dear Editor, Varicella is characterized by skin lesions in various stages of development that are present at the same time. However, photoinduced varicella presents simultaneous single‐stage eruptions. Therefore, the differential diagnosis between this peculiar type of varicella and small pox is of great importance. We report here a rare adult case of photolocalized varicella. A 19‐year‐old man presented with papulovesicular eruptions that were limited almost entirely to sun‐exposed areas. In the previous 2 days, he had experienced fever over 39 °C, fatigue and myalgia. He had no history of varicella‐zoster virus (VZV) infection. One of his colleagues had been diagnosed with varicella about 2 weeks earlier. At the initial physical examination, he had pruritic papulovesicular eruptions 1–3 mm in diameter with purpura on his trunk and extremities where he had a suntan (Fig. 1a). According to the patient, he had extensive sun exposure 4 days before development of the eruptions. The eruptions appeared to be at the same stage of evolution (Fig. 1b). A few vesicles were also present on skin that was not suntanned. A Tzanck test showed multinucleated balloon cells. In addition, a serological test was positive for IgM and IgG VZV antibodies.
INTUBATION AND TRACHEOTOMY IN DIPHTHERITIC CROUP, WITH REPORT OF CASES.
Authors: WALTER B. JOHNSON
Journal: JAMA (1893)

The operation for intubation of the larynx is growing in favor in this country and abroad, although it is not calculated to, and does not, fulfill all the expectations of some of its most enthusiastic advocates; it is an operation, which if performed with reasonable skill and delicacy, is attended with the minimum amount of danger and results in a high percentage of recoveries, considering the dangerous complications which occur in the course of the frequently fatal diseases for which it is performed. The operation of tracheotomy still has its field of usefulness, and will certainly maintain an important position on the list of scientific surgical procedures, even though it is at present, by many authorities, placed in a secondary position, and in the opinion of the writer of this paper should rarely be performed until after intubation has been thoroughly tried and failed. Could all the statistics of the
REPORT OF A CASE OF HEMORRHAGE IN THE NEW-BORN.
Authors: G. WERLEY
Journal: JAMA (1907)

<h3>History.</h3> —Baby H., female, was born at 6 a. m., March 14, 1907 (vertex presentation). Labor lasted seven hours, the second stage being very short. The child apparently was normal in every way, and weighed 7 pounds. The cord was handled aseptically and dressed with boric acid and alcohol. The infant's father was in the last stages of pulmonary tuberculosis. The mother was healthy but gave a history of epileptic attacks. There were two other children, girls, aged 4 and 5 years respectively. With her first baby the mother had severe mastitis and the child had to be weaned when two weeks old. The second child was not breast-fed at all. The breasts were indurated in a number of places, the result of previous abscesses. The baby was put to the breast five hours after birth, but did not nurse. At 7 p. m. it had a large bowel movement.
The Medics' War: What Happened at Chipyong-ni
Authors: Robert M. Hall
Journal: JAMA (1991)

<h3>To the Editor.—</h3> "Physician bashing" has acquired a new dimension and an international aspect with the publication of<i>The Medics' War</i>.<sup>1</sup>Page 141 states that because of a "deficiency in the... quality of" the "training" of the physicians who were present at the battle of Chipyong-ni, during the Korean Conflict it had been necessary for a sergeant to care for all of the wounded. This statement is false, as are others in the same paragraph. Eight well-trained and experienced French and US medical corps officers and over 100 other medical personnel of both armies treated the wounded at Chipyong-ni. The individual who is credited by Cowdrey with having done this submitted an immediate written denial of the author's statements once he became aware of them. There is no justification for these statements in the reference cited by the author as his authority for making them.<sup>2</sup> The battle at
NICE's decision on dementia drugs was “irrational,” High Court is told
Authors: Clare Dyer
Journal: BMJ (2007)

The regulatory body that decides which treatments the NHS should pay for was accused of “irrational” decision making in the High Court this week for denying drugs to patients in the mild stage of Alzheimer's disease.

The National Institute for Health and Clinical Excellence (NICE), which issues its guidance on the basis of cost benefit analyses, is facing its first legal challenge to a decision to restrict a drug's availability on the NHS.

The unprecedented case was brought to the High Court in London this week by two drug companies and by the Alzheimer's Society, representing patients and carers.

NICE's guidance last year meant that nearly 100 000 patients a year in England, Wales, and Northern Ireland with mild Alzheimer's disease were no …
Studies Reveal Underlying Mechanism for Chemotherapy’s Adverse Effects on Brain
Authors: Tracy Hampton
Journal: JAMA (2008)

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
CELLULAR EVENTS DURING THE INDUCTION OF EXPERIMENTAL THYROIDITIS IN THE RABBIT
Authors: Bruce A. Clinton, William O. Weigle
Journal: The Journal of Experimental Medicine (1972)

With a modification of the Jerne plaque technique to enumerate plaque-forming cells (PFC) to bovine and rabbit thyroglobulin, the cellular kinetics of the antibody response were followed during two 5-day series of injections of an aqueous preparation of bovine thyroglobulin. The results support the suggestion that thyroiditis in the rabbit is mediated by antibody. The peak PFC appear in the spleen at the end of the second series of injections and are considerably greater for bovine than for rabbit thyroglobulin. PFC also appear in the thyroid gland; however, the numbers of PFC for bovine and rabbit thyroglobulin were similar, and they did not reach a peak until 7 days after the peak PFC in the spleen. There was an excellent correlation between the appearance of PFC in the thyroid gland and the appearance of thyroid lesions. The disappearance of antibody to rabbit thyroglobulin from the serum also correlated with the appearance of lesions. Migration inhibition factor (MIF) activity was not produced at any time throughout the study when rabbit thyroglobulin was added to peritoneal exudates of immunized rabbits containing circulating antibody to rabbit thyroglobulin. MIF activity was observed when bovine thyroglobulin was added to similar cells in the later stages of the study after lesions were present.
Increased morbidity and mortality in very preterm/VLBW infants with congenital heart disease
Authors: Angelo Polito, Simone Piga, Paola E. Cogo, Carlo Corchia, Virgilio Carnielli, Monica Da Frè, Domenico Di Lallo, Isabella Favia, Luigi Gagliardi, Francesco Macagno, Silvana Miniaci, Marina Cuttini
Journal: Intensive Care Medicine (2013)
DEATHS IMMEDIATELY FOLLOWING THE INTRAVENOUS ADMINISTRATION OF MERCUPURIN
Authors: GEORGE BROWN
Journal: JAMA (1942)

The fact that there are but few reports of serious accidents following the intravenous administration of mercupurin gives the impression that such reactions are very infrequent. Tyson<sup>1</sup>reported two deaths following the intravenous administration of mercurial diuretics (esidrone and mercupurin) to patients with nephrosis. She also cites other deaths in the literature from other mercurial diuretics. But we know of no reports of deaths following the use of mercupurin in patients with congestive heart failure. Each of us has given a large number of injections of mercurial diuretics during the past six or seven years to patients with congestive heart failure; our combined experience exceeds many thousands of injections, yet none of us had previously seen a serious or fatal reaction. It was with great surprise, therefore, that we learned that within a short space of time we had independently observed deaths immediately following the administration of mercupurin. A
Augmented Natriuretic Response to Acute Sodium Infusion after Blood Pressure Elevation with Metaraminol in Normotensive Subjects *
Authors: Carlos A. Vaamonde, I. Norman Sporn, Ruben G. Lancestremere, Joseph L. Belsky, Solomon Papper
Journal: Journal of Clinical Investigation (1964)

That patients with essential hypertension have an exaggerated natriuretic response to the rapid intravenous administration of sodium is well es- tablished (1-5).Other hypertensive states have also been reported to exhibit an exaggerated natriuretic response to acute salt loading (4, 6- 11).Although the mechanisms responsible for this phenomenon remain unknown (5), one of the possibilities is that the elevation of the blood pressure per se may cause the enhanced natriuresis (10).In the present investigation the natriuretic re- sponse to acutely administered sodium was stud- ied under controlled conditions in normotensive subjects and after elevation of the blood pres- sure with the pressor amine, metaraminol.Sub- jects excreted two to four times as much sodium as when responding to a similar sodium load without metaraminol.
Disappearance of Diabetes Insipidus after Progressive and Complete Destruction of the Pituitary Gland by Metastatic Carcinoma
Authors: H. Chesley Decker, John M. Meredith, John L. Thornton
Journal: New England Journal of Medicine (1955)

METASTATIC tumors in the brain occur in approximately 5 per cent of all fatal cases of cancer, according to Willis.1 A survey of 3946 consecutive autopsies by Earle2 suggests that metastatic brain tumors are more common than primary intracranial tumors in the adult male.Metastatic lesions of the pituitary gland are most uncommon but are not considered rare, for the medical literature is well documented with isolated cases over the past thirty-eight years. In Willis's series the most common source was primary carcinoma of the breast, the lung being second in frequency. In many cases, as in the one reported . . .
Does methylmercury have a role in causing developmental disabilities in children?
Authors: G J Myers, P W Davidson
Journal: Environmental Health Perspectives (2000)

Methylmercury (MeHg) is a potent neurotoxin that in high exposures can cause mental retardation, cerebral palsy, and seizures. The developing brain appears particularly sensitive to MeHg. Exposure levels in pregnant experimental animals that do not result in detectable signs or symptoms in the mother can adversely affect the offspring's development. Studies of human poisonings suggest this may also occur in humans. Human exposure to MeHg is primarily dietary through the consumption of fish: MeHg is present in all fresh and saltwater fish. Populations that depend on fish as a major source of dietary protein may achieve MeHg exposure levels hypothesized to adversely affect brain development. Increasing mercury levels in the environment have heightened concerns about dietary exposure and a possible role for MeHg in developmental disabilities. Follow-up studies of an outbreak of MeHg poisoning in Iraq revealed a dose-response relationship for prenatal MeHg exposure. That relationship suggested that prenatal exposure as low as 10 ppm (measured in maternal hair growing during pregnancy) could adversely affect fetal brain development. However, using the same end points as were used in the Iraq study, no associations have been reported in fish-eating populations. Using a more extensive range of developmental end points, some studies of populations consuming seafood have reported associations with prenatal MeHg exposure, whereas others have found none. This paper reviews the data presently available associating MeHg exposure with development and poses some of the unanswered questions in this field.
Prenatal Screening for Aneuploidy
Authors: Deborah A. Driscoll, Susan Gross
Journal: New England Journal of Medicine (2009)

A 37-year-old woman, gravida 1, seeks prenatal care at 8 weeks' gestation. Her family history and medical history are unremarkable. What would you advise regarding her risk of fetal chromosomal abnormalities such as Down's syndrome and her options for prenatal screening and diagnosis?