tbuckley/cabot-search huggingface dataset:
Receptor tyrosine kinase specific for the skeletal muscle lineage: Expression in embryonic muscle, at the neuromuscular junction, and after injury
Authors: David M. Valenzuela, Trevor N. Stitt, Peter S. DiStefano, Eduardo Rojas, Karen Mattsson, Debra L. Compton, Lorna Nunez, John S. Park, Jennifer L. Stark, David R. Gies, Susan Thomas, Michelle M. Le Beau, Anthony A. Fernald, Neal G. Copeland, Nancy A. Jenkins, Steven J. Burden, David J. Glass, George D. Yancopoulos
Journal: Neuron (1995)

While a number of growth factors have been described that are highly specific for particular cell lineages, neither a factor nor a receptor uniquely specific to the skeletal muscle lineage has previously been described. Here we identify a receptor tyrosine kinase (RTK) specific to skeletal muscle, which we term "MuSK" for muscle-specific kinase. MuSK is expressed at low levels in proliferating myoblasts and is induced upon differentiation and fusion. In the embryo, it is specifically expressed in early myotomes and developing muscle. MuSK is then dramatically down-regulated in mature muscle, where it remains prominent only at the neuromuscular junction; MuSK is thus the only known RTK that localizes to the neuromuscular junction. Strikingly, MuSK expression is dramatically induced throughout the adult myofiber after denervation, block of electrical activity, or physical immobilization. In humans, MuSK maps to chromosome 9q31.3-32, which overlaps with the region reported to contain the Fukuyama muscular dystrophy mutation. Identification of MuSK introduces a novel receptor-factor system that seems sure to play an important and selective role in many aspects of skeletal muscle development and function.
Raloxifene vs Tamoxifen—Reply
Authors: William J. Gradishar, David Cella
Journal: JAMA (2007)

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
Retention of CXCR4 in the endoplasmic reticulum blocks dissemination of a T cell hybridoma
Authors: Ingrid S. Zeelenberg, Lisette Ruuls-Van Stalle, Ed Roos
Journal: Journal of Clinical Investigation (2001)

The dissemination of T cell hybridomas to multiple nonhematopoietic tissues is blocked by pertussis toxin, suggesting the involvement of a chemokine. To study whether this chemokine is SDF-1, we employed a strategy proposed previously for gene therapy of AIDS, whereby the SDF-1 receptor CXCR4 (also a coreceptor for HIV) is retained in the endoplasmic reticulum (ER) and fails to reach the cell surface. We transfected SDF-1, carrying an ER retention sequence, into a T cell hybridoma. This altered chemokine is retained in the ER, where it binds CXCR4 and prevents the latter protein from reaching the surface. These cells failed to migrate toward SDF-1 or to invade fibroblast monolayers, although they could still migrate toward thymus and activation-regulated chemokine (TARC) and invade TARC-treated monolayers. Furthermore, the ability of the transfected cells to disseminate to multiple organs upon intravenous injection into mice was abolished. This dissemination reflects the in vivo migration patterns of activated and memory T cells into nonhematopoietic tissues, which is thus likely to depend on CXCR4. Attempts to block CXCR4 function as a therapy for AIDS may affect this migration with consequences for T cell function. Our results also suggest a decisive role for CXCR4 in the dissemination of hematopoietic malignancies expressing this receptor.
Measurement of aortic and mitral regurgitation by gated cardiac blood pool scans.
Authors: P Rigo, P O Alderson, R M Robertson, L C Becker, H N Wagner
Journal: Circulation (1979)

A simple, noninvasive radionuclide technique which measures the severity of valvular regurgitation has been developed. The technique compares right and left ventricular stroke volume indices (change in counts between diastole and systole over the left and right ventricles) from 45 degrees LAO gated cardiac blood pool scans. In 14 control subjects, the left-to-right ventricular stroke index ratio was near unity (1.15 +/- 0.15 [SD]). In 26 patients with mitral and/or aortic regurgitation it was larger (range 1.36--5.30, mean 2.44). Comparison between the stroke index ratio and qualitative angiographic estimates of regurgitation revealed good agreement (F = 45.5, p less than 0.001). Gated cardiac blood pool scans permit noninvasive assessment of the severity of valvular regurgitation.
The Mechanism of HIV Infection in Patients of the Florida Dentist-Reply
Authors: Carol A. Ciesielski
Journal: JAMA (1991)

<h3>In Reply.</h3> —We do not believe that five patients of a Florida dentist became infected with HIV as a consequence of exposure to the sweat of a dentist with AIDS.<sup>1-3</sup>None of the five infected patients reported any contact with perspiration from the dentist. Furthermore, HIV has not been demonstrated in "natural" eccrine sweat from HIV-infected patients,<sup>4</sup>nor is there evidence to indicate that hepatitis B virus, another bloodborne pathogen with epidemiologic transmission patterns similar to HIV, can be transmitted through this route. Although the precise mode of HIV transmission to these patients remains uncertain, all of the patients had dental care from the dentist after he was diagnosed with AIDS, and multiple opportunities existed for the dentist to sustain needlestick injuries (eg, during administration of local anesthetics, two-handed needle recapping procedures, and suturing) or cuts with a sharp instrument, particularly in poorly visualized operative sites. Alternatively, transmission
Court Ruling on 'Junk Science' Gives Judges More Say About What Expert Witness Testimony to Allow
Authors: Charles Marwick
Journal: JAMA (1993)

THE BALL is back in the lower courts. That's where the Supreme Court has tossed it in a 7-2 decision that tells federal lower court judges that it's up to them to determine whether to allow expert witness testimony in cases that come before them. The case before the Supreme Court,<i>Daubert vs Merrell Dow</i>, was an appeal over a lawsuit alleging that birth defects occurring in two children were caused by Bendectin. The drug for treating nausea of pregnancy had been taken by each child's mother. Lower courts had ruled in favor of the manufacturer of Bendectin, Marion Merrell Dow Inc, Kansas City, Mo. It was one of more than 1000 cases brought by children with birth defects, whose mothers had taken Bendectin during their pregnancy (<i>JAMA</i>. 1993;269:2057). Merrell Dow had argued that in 30 published studies there was no statistically significant association between the use of Bendectin and
Phenotype correction of fanconi anemia group a hematopoietic stem cells using lentiviral vector
Authors: Kaoru Yamada, Ali Ramezani, Robert G Hawley, Wolfram Ebell, Fre Arwert, Larry W Arnold, Christopher E Walsh
Journal: Molecular Therapy (2003)

<h2>Abstract</h2> Fanconi anemia (FA) is an autosomal recessive disease characterized by progressive bone marrow failure due to defective stem cell function. FA patients' cells are hypersensitive to DNA cross-linking agents such as mitomycin C (MMC), exposure to which results in cytogenetic aberrations and cell death. To date Moloney murine leukemia virus vectors have been used in clinical gene therapy. Recently, third-generation lentiviral vectors based on the HIV-1 genome have been developed for efficient gene transfer to hematopoietic stem cells. We generated a self-inactivating lentiviral vector expressing the FA group A cDNA driven by the murine stem cell virus U3 LTR promoter and used the vector to transduce side-population (SP) cells isolated from bone marrow of Fanconi anemia group A (Fanca) knockout mice. One thousand transduced SP cells reconstituted the bone marrow of sublethally irradiated Fanca recipient mice. Phenotype correction was demonstrated by stable hematopoiesis following MMC challenge. Using real-time PCR, one proviral vector DNA copy per cell was detected in all lineage-committed cells in the peripheral blood of both primary and secondary recipients. Our results suggest that the lentiviral vector transduces stem cells capable of self-renewal and long-term hematopoiesis <i>in vivo</i> and is potentially useful for clinical gene therapy of FA hematopoietic cells.
Cholestatic Hepatitis Following the Administration of Sodium Oxacillin
Authors: Andrew Ten Pas
Journal: JAMA (1965)

HEPATIC injury in the form of intrahepatic cholestasis due to allergic drug sensitivity has been reported for many drugs.<sup>1</sup>The prototype most extensively studied is that of cholestatic jaundice caused by chlorpromazine. This report describes a case of cholestatic hepatitis due to sodium oxacillin (Prostaphlin) and documented by liver biopsy. As far as we know, no such case has been reported so far due to this agent or to other natural or semisynthetic penicillins. The antibiotics erythromycin estolate<sup>2,3</sup>and triacetyloleandomycin,<sup>4</sup>however, have caused this reaction. <h3>Report of a Case</h3> A 65-year-old white woman presented herself in the emergency room of Henry Ford Hospital on Feb 3, 1964, with cellulitis of the right leg. She was started on a regimen of sodium oxacillin, 2 gm daily, administered orally. She returned to the clinic on Feb 6; no improvement was found, and she was admitted to the hospital. The
Reinforcement and punishment: Dissociable systems for action and emotion?
Authors: Simon Killcross
Journal: Behavioral and Brain Sciences (2000)

Rolls presents a theory of emotion based on the premise that emotions are evoked by events that are capable of being instrumental reinforcers and punishers. As support for this theory is drawn almost entirely from experiments in non-human primates, valuable insights into the relationship between punishment and reinforcement systems, and the nature of instrumentality, may have been overlooked.
DEATH FROM BROMO-SELTZER.CASE OF ACETANILID POISONING.
Authors: HENRY BIXBY HEMENWAY
Journal: JAMA (1906)

On Oct. 12, 1906, about 5:20 p. m., I was called to attend Mrs. K. H. <h3>Patient.</h3> —Female, white, Irish-American, aged 31. <h3>Family History.</h3> —Father was found dead at age of 50; he possibly died of alcoholism. Mother died of childbirth at 38; father's mother died at 99, and paternal grandfather reached old age. Mother's parents died young. Cause of death of grandparents is unknown. <h3>Personal History.</h3> —Within the past eight years, the patient had had four children and four miscarriages. She has suffered from profuse menstrual hemorrhages, and in June, 1906, was in St. Francis Hospital for curettement. Except at the menstrual period, she had never been subject to headaches, until within the last month. Her husband being away on business during that time she had "grieved much" and had several severe headaches, which had been relieved by bromo-seltzer. Wednesday evening she had a headache. Friday for dinner the
Thyroid Hemiagenesis With Goiter
Authors: Ronald C. Golinger
Journal: JAMA (1973)

<h3>To the Editor.—</h3> Goiter associated with aplasia of one thyroid lobe is rare, although data which would yield its true incidence is unavailable. Harada et al<sup>1</sup>reported seven cases of thyroidal hemiagenesis and reviewed the literature on this subject. They emphasized that the entity is only discovered when the existing lobe contains symptomatic pathology, and that accurate diagnosis usually requires surgical exploration. We have treated a patient in whom the existence of hemiagenesis was not appreciated until surgery was performed. This led to confusion in diagnosis that could have been avoided had the possibility of aplasia been recognized. <h3>Report of a Case.—</h3> A 52-year-old white woman complained of "tiredness" in her neck. During a ten-month period, she was unsuccessfully treated due to several erroneous diagnoses, including globus hystericus, bursitis, and cervical osteoarthritis. Although she had no true dysphagia, the cervical discomfort was aggravated by swallowing. An esophagram performed on
Impact of whooping cough on patients and their families.
Authors: D Birnie, S Benham, R S Bhopal
Journal: BMJ (1985)

mentation which would allow the development of the scars to be observed.Collection of children with new scars from many centres afforded an unusual opportunity (a) to establish that renal scars could be acquired and were not all present from birth as has been suggested and (b) to study the circumstances surrounding their formation.Prolonged symptomatic infection in the presence of vesicoureteric reflux seemed to be the major contributory factor.As we know of no evidence to support Sherwood and Whitaker's pessimistic view that infection must be treated "within hours of onset" to prevent renal scarring,2 we suggested that early recognition and prompt antibacterial treatment of urinary infection in infancy and childhood, with continued prophy- laxis until the cause was determined, might offer the best hope of preventing scarring.What is needed is an accurate means of establishing an immediate diagnosis of urinary infection in children and a non-invasive method of identifying those who have inflammatory renal disease.The nitrite stick and direct microscopy go some way towards the former.Ultrasound unfortunately will not identify areas of impaired function or renal scars, though it may detect gross vesicoureteric reflux.The DMSA scan holds promise.Here are two subjects for further study.
Fracture of Odontoid Process Related to Automobile Head Rest
Authors: Robert A. Beatty
Journal: JAMA (1970)

<h3>To the Editor.—</h3> A patient with a fractured odontoid process recently under my care illustrates a danger of automobile head rests which I have long suspected. At the time the car was struck from behind, the head rest was in the "down" position. It apparently acted as a fulcrum at the craniovertebral junction causing a fracture at this level rather than the usual lower level. Although head rests have been a great contribution to automobile safety, they are not completely protective as this case illustrates. The public should be alerted to this danger.
Factors Potentiating the Risk of Sudden Infant Death Syndrome Associated with the Prone Position
Authors: Anne-Louise Ponsonby, Terence Dwyer, Laura E. Gibbons, Jennifer A. Cochrane, You-Gan Wang
Journal: New England Journal of Medicine (1993)

In several studies the sudden infant death syndrome (SIDS) has been significantly associated with sleeping in the prone position. It is not known how the prone position increases the risk of SIDS.
Vasodilatation by calcitonin gene-related peptide and by substance P: a comparison of their effects on resistance and capacitance vessels of human forearms.
Authors: J R McEwan, N Benjamin, S Larkin, R W Fuller, C T Dollery, I MacIntyre
Journal: Circulation (1988)

A comparison has been made of the effects of the potent vasodilating peptide calcitonin gene-related peptide (CGRP) and substance P (SP) on resistance and capacitance vessels of normal subjects. Brachial artery infusion of 1.25 to 10 pmol/min CGRP and of 0.25 to 1.5 pmol/min SP produced maximal increases in forearm blood flow (177 +/- 75% and 198 +/- 50%, respectively), as measured by venous occlusion plethysmography. The vasodilation due to CGRP was prolonged, with a half-life of biological effect of approximately 18 min, while that due to SP was of short duration, with a half-life of biological effect of approximately 15 sec. There was rapid development of tachyphylaxis to the effects of arterial infusion of SP, but not of CGRP, during a prolonged infusion at one dose. CGRP did not alter the diameter of a superficial hand vein, either at rest or when the vein was constricted by a simultaneous infusion of norepinephrine or by the single deep breath reflex. In contrast, SP caused dilatation of veins preconstricted with norepinephrine, although the effect was only transient and dose-response curves could not be constructed. The venoconstrictor response to a single deep breath was abolished by SP. Simultaneous arterial infusion of both peptides produced at least additive, and possibly synergistic, effects on forearm blood flow. We propose that both CGRP and SP have a role in the regulation of vascular smooth muscle tone.
Turbutest™ in the training of asthmatic Turbuhaler™ users
Authors: M Branco Ferreira, A Santos, MH Clode, AG Palma Carlos
Journal: Allergy (1999)

Correct utilization of inhalation devices is a key factor in asthma management. Objective assessment of the ability to use inhaler devices is therefore fundamental.The objective was to assess objectively the inhalation technique of Turbuhaler users who reported having no difficulty in using such a device. A total of 600 asthmatic patients of our allergology outpatient department, daily users of Turbuhaler devices, were evaluated with Turbutest. This is a simple portable apparatus which connects a Turbuhaler inhaler with an electronic device to allow semiquantitative assessment of inhalation technique, with a score ranging from 0 (worst) to 3 (best), readily visualized on the apparatus. Patients were allowed to practice with Turbutest, assisted by an allergologist, until they improved their scores. A second Turbutest assessment was performed at a 2-month follow-up visit.On the first assessment, one-third of the patients had scores inadequate to allow a good inhalation, and only 20% achieved a score of 3. On the second assessment, significantly higher Turbutest scores were observed.Turbutest is a valuable tool in asthmatic patients' training, allowing identification and improvement of an inadequate inhalation technique with Turbuhaler.
Mirror neurons, the insula, and empathy
Authors: Marco Iacoboni, Gian Luigi Lenzi
Journal: Behavioral and Brain Sciences (2002)

Neurophysiological studies in monkeys and neuroimaging studies in humans support a model of empathy according to which there exists a shared code between perception and production of emotion. The neural circuitry critical to this mechanism is composed of frontal and parietal areas matching the observation and execution of action, and interacting heavily with the superior temporal cortex. Further, this cortical system is linked to the limbic system by means of an anterior sector of the human insular lobe.
More about informed consent
Authors: J. E. Simonaitis
Journal: JAMA (1973)

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 Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More 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 journal
EGFR Dinucleotide Repeat Polymorphism as a Prognostic Indicator in Non-small Cell Lung Cancer
Authors: Sarita Dubey, Patricia Stephenson, Donna E. Levy, Judith A. Miller, Steven M. Keller, Joan H. Schiller, David H. Johnson, Jill M. Kolesar
Journal: Journal of Thoracic Oncology (2006)
Stereotactic body radiation therapy: a novel treatment modality
Authors: Simon S. Lo, Achilles J. Fakiris, Eric L. Chang, Nina A. Mayr, Jian Z. Wang, Lech Papiez, Bin S. Teh, Ronald C. McGarry, Higinia R. Cardenes, Robert D. Timmerman
Journal: Nature Reviews Clinical Oncology (2009)
AN IMPROVED SIGMOIDOSCOPE
Authors: Robert Turell
Journal: JAMA (1952)

After the construction of a sigmoidoscope with proximal and distal illumination,1continued research of the lighting systems resulted in the construction of a sufficiently powerful light bulb that provides excellent and bright illumination even if it is placed at the proximal end (near the examiner's eye) of the shaft of the scope. This improvement led to the construction of a simple endoscope that is useful for the nonproctologic examiner, such as the general practitioner or internist (parts 2 and 3 of the accompanying figure). Furthermore, additional refinements have been developed that make this endoscope very useful for the proctologist (part 10 of the figure).  The endoscope consists of a tubular shaft or sheath made of light noncorrosive metal (also available in plastic materials: bakelite® and lucite®) varying from 3 to 10 in. (7.5 to 25 cm.) in length and ⅝ to ⅞ in. (1.6 to 2 cm.) in diameter.
A newborn with hypotonia and abnormal facies
Authors: L. Rodrigues e Rodrigues, M. Barbosa, S. Ramos, M. Pontes, E. Coelho, E. Proenca
Journal: BMJ (2011)

A baby girl was delivered by caesarean section at 39 weeks after unsuccessful attempts at vacuum extraction vaginal delivery. Her Apgar scores were 3 and 9 at one and five minutes, respectively. Resuscitation measures included bag mask manual ventilation for bradypnoea, bradycardia, cyanosis, and generalised hypotonia. She recovered promptly and was clinically stable.

The mother was a primigravida and the pregnancy was uneventful. The parents were non-consanguineous and declared no medical family history of note. Maternal serology tests were negative, as was Streptococcus group B screening. The antenatal ultrasound scans were normal.

Examination of the newborn showed persistent generalised hypotonia, the presence of an expressionless face, bitemporal flattening, tent shaped upper lips, a carp mouth with a high arched palate, an abnormal receding small jaw, and mild respiratory distress (fig 1⇓). Hyporeflexia was also present. Weight, length, and head circumference measures were appropriate for gestational age. At this point it was noticed that the mother had myopathic facial features, and after direct questioning the father confirmed the presence of “muscle disease” in his wife’s family. The newborn was admitted to the neonatal special care unit.



Fig 1 Newborn facies





### 1 What is the likely diagnosis?

#### Short answer

Myotonic dystrophy.

#### Long answer

Myotonic dystrophy type 1 is one of the most common hereditary neuromuscular diseases.1 2 The phenotypic expression of the disease and its clinical presentation are extremely heterogeneous, and symptoms may go unnoticed or not be taken seriously by carriers, as in the mother of this case. Obstetric problems are common, particularly the need for vacuum extraction (as in this case), …