tbuckley/cabot-search huggingface dataset:
Heritable Q-T Prolongation Without Deafness
Authors: LEONCIO A. GARZA, ROBERT L. VICK, JAMES J. NORA, DAN G. MCNAMARA
Journal: Circulation (1970)

The family, reported on, have a syndrome of prolonged Q-T interval, potentially fatal episodes of ventricular arrhythmias, and normal hearing. The direct familial transmission demonstrated in this pedigree is consistent with an autosomal dominant mode of inheritance. To protect other members of the family from the consequences of ventricular arrhythmia experienced by the irreversibly brain-damaged index patient, a series of physiologic investigations was undertaken on this patient in a search for a suitable prophylactic medical regimen. The attacks of ventricular arrhythmia were found to be precipitated by increase in systemic pressure, sinus tachycardia, and extrasystoles occurring in the supernormal phase of repolarization (R in T syndrome). Propranolol was demonstrated to be an effective agent in preventing the ventricular arrhythmia in the index case and in other family members. Since administration of the beta-adrenergic stimulator isoproterenol did not produce ventricular fibrillation, it is assumed that the action of propranolol in preventing ventricular arrhythmia is not mediated through beta-adrenergic blockade, but through its direct antiarrhythmic properties. The subject experienced no ill effect from the series of investigations.
Hypoparathyroidism, Moniliasis, Addison's and Hashimoto's Diseases
Authors: Frederic M. Kenny, Malcolm A. Holliday
Journal: New England Journal of Medicine (1964)

THE association of superficial moniliasis, idiopathic hypoparathyroidism, Addison's disease and Hashimoto's thyroiditis in a single patient is previously undocumented. One purpose of this paper is to describe such a case. There are reports of 8 patients with moniliasis, idiopathic hypoparathyroidism and Addison's disease.1 2 3 4 5 6 7 Circulating antibodies to adrenal and thyroid tissue were found in the serum of this patient, suggesting the possibility of an underlying autoimmune disorder. Her younger sister has superficial moniliasis and idiopathic hypoparathyroidism; her serum contained no antithyroid or antiadrenal antibodies.In the younger sister severe symptomatic hypercalcemia occurred during the performance of a reputedly safe procedure utilizing . . .
Comprehensive Adolescent Health Care
Authors: Robert J. Senior
Journal: JAMA (1993)

If a professional is to budget for one reference text devoted to the acknowledged, time-tested fundamentals of adolescent and young adult health care, I highly recommend this comprehensive, 1200 plus—page, 1992 publication with 146 contributors. It will be a most useful and often-used addition to a medical library for primary care providers, nurses, surgeons, and mental health and social workers who, because of their education, training, and experience with this specific age group (loosely, 12- to 21-year-olds) are quick to agree with the contributors and editors that adolescence "is not an older child" or "a training period for adulthood." There are indeed special needs and characteristics of adolescents. The index alone is 40 pages, beginning with<i>Aarskog syndrome</i>and ending with<i>zinc</i>. It has become extremely useful to me, especially to refresh quickly and concisely various syndromes and surnamed diseases whose definition and significance may have been lost since professional
116. Functional Comparison of Four CFTR rAAV Vectors with Alternative Transcriptional Elements in Cell Lines and Polarized Human CF Airway Epithelia
Authors: Liang Zhang, Benjamin Dutzar, Keith Munson, Barrie Carter, John F. Engelhardt
Journal: Molecular Therapy (2005)

The limiting packaging capacity (<5 kb) of recombinant adeno-associated virus (rAAV) has restricted the use of large promoters for the delivery of the cystic fibrosis transmembrane conductance (CFTR) cDNA in gene therapy of cystic fibrosis (CF). The relatively large size of the CFTR cDNA (4.5 kb) leaves little space for conventional, strong, promoters to enhance transcription. In clinical trials, the promoter activity of the ITR has been used to drive expression of CFTR. In the present study, we sought to compare different regulatory elements within rAAV2 vectors for their ability to express CFTR mRNA and functionally correct CFTR chloride channel defects. The vectors used in our study included: the current ITR promoter vector used in clinical trials (AVtgCF), a vector with a 83-bp synthetic promoter (AVCF83), a vector utilizing the ITR promoter and a 55-bp consensus sequence optimized intron derived from the rabbit Beta-globin gene (AV55globinCF), or a vector with a synthetic TATA box upstream of the 55-bp Beta-globin gene intron (AVmTATA55globinCF). These vectors were initially compared for their ability to express vector-derived CFTR mRNA following infection of HeLa and IB3 cells. Results from this analysis demonstrated significantly improved mRNA expression for most vectors as compared to the ITR-driven CFTR vector (AVtgCF). The approximate fold increase over that seen with AVtgCF was as follow: AVCF83: 1.1-fold in HeLa and 4.1-fold in IB3; AV55globinCF: 5.7-fold in HeLa and 42-fold in IB3; and AV-mTATA55globinCF: 4.7-fold in HeLa and 32-fold in IB3. These findings suggested that incorporation of the beta-globin intron might significantly improve CFTR correction in polarized human CF airway epithelia. Following apical infection of polarized CF airway epithelia, these regulatory elements showed improvements in the expression of CFTR mRNA as compared to AVtgCF (2.3-fold for AVCF83, 4.0-fold for AV55globinCF, and 3.3-fold for AVmTATA55globinCF). The functional correction of CFTR-mediated chloride transport was then assessed for each vector type as the cAMP-sensitive short-circuit current (Isc) in response to IBMX (100 M) and forskolin (10 M). The differences in the level of functional correction between the alternative promoter vectors and AVtgCF correlated with the increases in vector-derived CFTR mRNA. The delta-Isc in response to IBMX/forskolin for the AVCF83, AV55globinCF and AVmTATA55globinCF groups were 1.59-, 1.48-, and 1.83-fold higher than that observed in the AVtgCF group, respectively. Additionally we examined the kinetics of expression of AVtgCF and AV55globinCF following intranasal delivery to BALB/c mice. CFTR mRNA expression paralleled the in vitro data. AV55globinCF had higher levels of expression at all time points through 90 days ranging from 3-fold to greater than 10-fold. These studies provide further improvements in CFTR AAV vector design.
Targeting Biologic Markers in Asthma — Is Exhaled Nitric Oxide the Bull's-Eye?
Authors: Aaron Deykin
Journal: New England Journal of Medicine (2005)

Clinicians caring for patients with asthma need help. Asthma affects approximately 27 million persons in the United States. Despite the availability of effective therapies, asthma remains a source of significant morbidity and use of health care resources.1 National and international guidelines recommend that patients with persistent symptoms use inhaled corticosteroids as first-line therapy. On the basis of findings such as daytime or nighttime symptoms and impaired pulmonary function (as measured both at home and in the clinic), these guidelines also provide algorithms for increasing the doses of these medicines and adding other treatments.24 However, the practical application of these . . .
Myocardial relaxation. V. Postextrasystolic contraction-relaxation in the intact dog heart.
Authors: A S Blaustein, W H Gaasch, D Adam, H J Levine
Journal: Circulation (1981)

Postextrasystolic (PES) relaxation of the left ventricle was studied in 24 anesthetized dogs using the time constant (tau) of the left ventricular isovolumic pressure decline as an index of global relaxation velocity. Using programmed atrial stimulation and a control RR interval of 500 msec, the "coupling interval/compensatory pause" was varied from 400/600 msec to 250/750 msec, and left ventricular pressure-segment length data from control beats were compared with data from PES beats. Contractile state and fractional shortening increased in the PES beat, but the relaxation time constant remained unchanged (control, 35 +/- 3 msec; PES at 250/750 msec, 36 +/- 3 msec) (p = NS). Pretreatment with propranolol did not qualitatively influence these results. Isoproterenol and calcium were given in doses sufficient to increase the time derivative of isovolumic pressure (maximal positive dP/dt) by an amount equal to that obtained with PES potentiation (approximately 50%); isoproterenol produced a substantial decrease in the relaxation time constant (38 +/- 4 to 30 +/- 6 msec, p less than 0.01), whereas calcium administration produced only a small decrease in the time constant (30 +/- 5 to 27 +/- 5 msec, p less than 0.05). Thus, in the intact dog heart, some positive inotropic interventions augment contraction and speed relaxation, but PES potentiation of contraction is not associated with a change in relaxation velocity.
Changing Morbidity of Schoolboys, 1900 to 1965
Authors: Bruce M. Rodenberger
Journal: JAMA (1966)

A unique compilation of morbidity data uniformly recorded daily over a 65-year period (1900 to 1965) at St. Mark's School, Southboro, Mass, has been analyzed in order to determine the changing patterns of health and disease in this schoolboy population since 1900. Morbidity findings remained relatively stable and at appreciably higher levels from 1900 through World War II than during the past 20 years. Since 1945, a progressive decline to about 20% to 25% of the former values was recorded. These data are similar to data collected by the US Navy and Marine Corps. Factors influencing the post World War II decline in morbidity include antibiotic therapy and decline in communicable diseases.
Guanylin stimulation of Cl- secretion in human intestinal T84 cells via cyclic guanosine monophosphate.
Authors: L R Forte, S L Eber, J T Turner, R H Freeman, K F Fok, M G Currie
Journal: Journal of Clinical Investigation (1993)

Intestinal salt and fluid secretion is stimulated by Escherichia coli heat-stable enterotoxins (ST) through activation of a membrane guanylate cyclase found in the intestine. Guanylin is an endogenous intestinal peptide that has structural similarity to the bacterial peptides. Synthetic preparations of guanylin or E. coli ST 5-17 stimulated Cl- secretion in T84 cells cultured on semipermeable membranes as measured by increases in short circuit current (Isc). The guanylin/ST receptors appeared to be on the apical surface of T84 cells, since addition of guanylin to the apical, but not basolateral, reservoir stimulated Isc. Bumetanide added to the basolateral side effectively inhibited the Isc responses of T84 cells to either guanylin or ST 5-17. Guanylin appeared to be about one-tenth as potent as ST in stimulating transepithelial Cl- secretion. Guanylin and E. coli ST 5-17 both caused massive (> 1,000-fold) increases in cGMP levels in T84 cells, but guanylin was less potent than ST. Both peptides fully inhibited the binding of 125I-ST to receptor sites on intact T84 cells. The radioligand binding data obtained with guanylin or ST 5-17 best fit a model predicting two receptors with different affinity for these ligands. The Ki values for guanylin were 19 +/- 5 nM and 1.3 +/- 0.5 microM, whereas the Ki values for ST 5-17 were 78 +/- 38 pM and 4.9 +/- 1.4 nM. We conclude that guanylin stimulated Cl- secretion via the second messenger, cGMP, in T84 human colon cells. At least two guanylin receptors with different affinities for these ligands may exist in the cultured T84 cells. It may be postulated that guanylin is an endogenous hormone that controls intestinal Cl- secretion by a paracrine mechanism via cGMP and that E. coli ST stimulates Cl- secretion by virtue of an opportunistic mechanism through activation of guanylin receptors.
Intravenous Labetalol in Acute Aortic Dissection
Authors: Blair P. Grubb, Carl Sirio, Robert Zelis
Journal: JAMA (1987)

ACUTE dissection of the aorta is one of the most common clinical catastrophes involving the aorta. At least 2000 new cases occur each year in the United States alone,<sup>1,2</sup>and reports have suggested that the incidence of this disorder may be increasing in the industrialized world, with as many as ten to 20 new cases per million population per year.<sup>3</sup> During the last 20 years, major advances have occurred in our ability to diagnose and treat this devastating disorder. Coupled with the strides made in surgical therapy,<sup>4</sup>prompt medical therapy has dramatically improved survival. Medical therapy consists of lowering both the blood pressure (BP) and the velocity of left ventricular ejection (dV/dt).<sup>5</sup>Agents used include trimethaphan camsylate and the combination of sodium nitroprusside and propranolol hydrochloride. However, these agents are often cumbersome to use and difficult to administer safely during both interhospital and intrahospital transport. Labetalol
Amantadine Hydrochloride Pharmacokinetics in Hemodialysis Patients
Authors: LIAN-SEN SOUNG
Journal: Annals of Internal Medicine (1980)

To study the fate of amantadine hydrochloride in patients with renal failure, we gave 100 mg orally to 12 such patients immediately after hemodialysis. Plasma levels did not decrease between 24 and 44 hours after drug ingestion, suggesting an extremely poor total body clearance. Apparent volume of distribution was 5.1 ± 0.2 (SEM) L/kg of body weight. Between 44 and 48 hours, as a result of 4 hours of hemodialysis, the mean plasma drug level decreased from 268 to 225 ng/mL (P < 0.001). Dialyzer clearance was 67.0 ± 3.9 mL of plasma per minute. The total quantity of drug removed by the dialysis treatment, however, was only 3.9 ± 0.25 mg. The average half-life of amantadine in eight patients studied while receiving maintenance hemodialysis was 24.3 ± 2.4 h of dialysis administered over approximately 13 days. Plasma half-life in six nonuremic control subjects was 12.2 ± 1.6 h. Amantadine is poorly excreted in dialysis patients and has a large volume of distribution. The amount removed by a single dialysis is only a small fraction of the total body store.
Artificial Skin for Grafts
Authors: Bernard A. Schwetz
Journal: JAMA (2001)

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
Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect.
Authors: R H Buckley, R B Gilbertsen, R I Schiff, E Ferreira, S O Sanal, T A Waldmann
Journal: Journal of Clinical Investigation (1976)

Surface markers typical of T and B lymphocytes were present on varying proportions of peripheral blood lymphocytes from three infants with severe combined immunodeficiency disease. Despite this, functions mediated by T and B cells were either absent or very minimal in all three, including cell-mediated responses in vivo; the in vitro proliferative response to mitogens, allogeneic cells, or antigens; effector cell function in lymphocyte-antibody lymphocytolytic interaction assays; and in vitro synthesis of IgG, IgA, and IgM. In contrast, mononuclear cells from one of the infants were tested and found capable of lysing both human and chicken antibody-coated erythrocyte targets normally. Co-cultivation experiments with unrelated normal control lymphocytes failed to demonstrate suppressor cell activity for immunoglobulin synthesis in these infants. Augmentations of immunoglobulin production from 310 to 560% over that expected on the basis of individual culture data were noted in co-cultures of one of the infants' cells with two different unrelated normal control cells. These findings suggest that that infant may have had a T helper cell defect or that his T cells were unable to produce soluble factors necessary for B cell differentiation. The finding of cells with differentiation markers characteristic of T and B lymphocytes in each of these patients, though in variable quantities, is further evidence for heterogeneity among patients with the clinical syndrome of severe combined immunodeficiency and argues against the concept that their immunodeficiency was due to a stem cell defect.
Late Recurrence of Corticosteroid-Responsive Nephrotic Syndrome of Childhood
Authors: John E Engle
Journal: JAMA (1980)

CHILDREN with minimal-change nephrotic syndrome usually respond to corticosteroid therapy and eventually enter complete remission before reaching adulthood. Although this disease entity is relatively common in both children and adults, it is extremely rare to encounter adult nephrotic patients who had nephrotic syndrome during childhood. We describe here a patient who had typical minimal-change nephrotic syndrome as a child and, after a corticosteroidinduced complete remission lasting 19 years, had severe nephrotic syndrome as an adult. <h3>Report of a Case</h3> A 26-year-old woman was seen at The Milton S. Hershey Medical Center in March 1977 with edema. In 1953, at the age of 22 months, she had been hospitalized with edema and ascites. Laboratory values at that time had included proteinuria (4+); serum albumin, 1.6 g/dL; BUN, 9 mg/dL; and serum cholesterol, 952 mg/dL. Following the administration of cortisone, 25 mg four times a day for 11 days, she had become
HAX1 deletion impairs BCR internalization and leads to delayed BCR-mediated apoptosis
Authors: Susanne Wolkerstorfer, Elisabeth Schwaiger, Mark Rinnerthaler, Iris Karina Gratz, Thomas Zoegg, Hans Brandstetter, Gertrude Achatz-Straussberger
Journal: Cellular and Molecular Immunology (2015)

Deletion of HAX1 in mice causes a severe reduction in the numbers of lymphocytes in the bone marrow and in the spleen. Additionally, B220+ B progenitor cells in the bone marrow are reduced, suggesting an important function of HAX1 in B cell development. HAX1 is thought to play a protective role in apoptotic processes; therefore, we investigated the role of HAX1 in bone marrow B progenitor cells and splenic B cells. We did not observe an effect on the survival of Hax1−/− bone marrow cells but detected enhanced survival of splenic Hax1−/− B cells upon in vitro starvation/growth-factor withdrawal. To explain this apparent inconsistency with previous reports of HAX1 function, we also studied the B cell receptor (BCR)-induced apoptosis of IgM-stimulated splenic naïve B cells and found that apoptosis decreased in these cells. We further found impaired internalization of the BCR from Hax1−/− splenic B cells after IgM crosslinking; this impaired internalization may result in decreased BCR signaling and, consequently, decreased BCR-mediated apoptosis. We measured HAX1 binding to the cytoplasmic domains of different Ig subtypes and identified KVKWI(V)F as the putative binding motif for HAX1 within the cytoplasmic domains. Because this motif can be found in almost all Ig subtypes, it is likely that HAX1 plays a general role in BCR-mediated internalization events and BCR-mediated apoptosis.
Suboptimal adherence to the ACC/AHA non-ST elevation acute coronary syndrome practice guidelines for patients with positive troponin levels
Authors: Matthew T. Roe, Eric D. Peterson, Yun Li, Robert A. Harrington, Charles V. Pollack, Ralph G. Brindis, Robert H. Christenson, Sidney C. Smith, Brian Gibler, E. Magnus Ohman
Journal: Journal of the American College of Cardiology (2003)
The Treatment of Differentiated Thyroid Cancer in Children: Emphasis on Surgical Approach and Radioactive Iodine Therapy
Authors: Scott A. Rivkees, Ernest L. Mazzaferri, Frederik A. Verburg, Christoph Reiners, Markus Luster, Christopher K. Breuer, Catherine A. Dinauer, Robert Udelsman
Journal: Endocrine Reviews (2011)

Pediatric thyroid cancer is a rare disease with an excellent prognosis. Compared with adults, epithelial-derived differentiated thyroid cancer (DTC), which includes papillary and follicular thyroid cancer, presents at more advanced stages in children and is associated with higher rates of recurrence. Because of its uncommon occurrence, randomized trials have not been applied to test best-care options in children. Even in adults that have a 10-fold or higher incidence of thyroid cancer than children, few prospective trials have been executed to compare treatment approaches. We recognize that treatment recommendations have changed over the past few decades and will continue to do so. Respecting the aggressiveness of pediatric thyroid cancer, high recurrence rates, and the problems associated with decades of long-term follow-up, a premium should be placed on treatments that minimize risk of recurrence and the adverse effects of treatments and facilitate follow-up. We recommend that total thyroidectomy and central compartment lymph node dissection is the surgical procedure of choice for children with DTC if it can be performed by a high-volume thyroid surgeon. We recommend radioactive iodine therapy for remnant ablation or residual disease for most children with DTC. We recommend long-term follow-up because disease can recur decades after initial diagnosis and therapy. Considering the complexity of DTC management and the potential complications associated with therapy, it is essential that pediatric DTC be managed by physicians with expertise in this area.
Spur cell anaemia in hepatic cirrhosis: incidence, prognosis and reversibility after liver transplantation
Authors: Jose Manuel Sousa, Alvaro Giraldez, Jose Maria De Blas, Concepcion Diaz, Felipe Pareja, Juan Serrano, Inmaculada Garcia, Maria Jesus Tamayo, Miguel Angel Gomez, Jose Benito Perez, Rafael Hinojosa, Manuel Sayago, Angel Bernardos
Journal: Journal of Hepatology (2002)