tbuckley/cabot-search huggingface dataset:
Mutations of<b><i>DNAI1</i></b>in Primary Ciliary Dyskinesia
Authors: Maimoona A. Zariwala, Margaret W. Leigh, Franck Ceppa, Marcus P. Kennedy, Peadar G. Noone, Johnny L. Carson, Milan J. Hazucha, Adriana Lori, Judit Horvath, Heike Olbrich, Niki T. Loges, Anne-Marie Bridoux, Gaëlle Pennarun, Bénédicte Duriez, Estelle Escudier, Hannah M. Mitchison, Rahul Chodhari, Eddie M. K. Chung, Lucy C. Morgan, Robbert U. de Iongh, Jonathan Rutland, Ugo Pradal, Heymut Omran, Serge Amselem, Michael R. Knowles
Journal: American Journal of Respiratory and Critical Care Medicine (2006)

Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia.We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported IVS1+2_3insT (219+3insT) mutation represents a "founder" or "hot spot" mutation.Patients with PCD from 179 unrelated families were studied. Exclusion mapping showed no linkage to DNAI1 for 13 families; the entire coding region was sequenced in a patient from the remaining 166 families. Reverse transcriptase-polymerase chain reaction (RT-PCR) was performed on nasal epithelial RNA in 14 families.Mutations in DNAI1 including 12 novel mutations were identified in 16 of 179 (9%) families; 14 harbored biallelic mutations. Deep intronic splice mutations were not identified by reverse transcriptase-polymerase chain reaction. The prevalence of mutations in families with defined ODA defect was 13%; no mutations were found in patients without a defined ODA defect. The previously reported IVS1+2_3insT mutation accounted for 57% (17/30) of mutant alleles, and marker analysis indicates a common founder for this mutation. Seven mutations occurred in three exons (13, 16, and 17); taken together with previous reports, these three exons are emerging as mutation clusters harboring 29% (12/42) of mutant alleles.A total of 10% of patients with PCD are estimated to harbor mutations in DNAI1; most occur as a common founder IVS1+2_3insT or in exons 13, 16, and 17. This information is useful for establishing a clinical molecular genetic test for PCD.
Learning by Heart: AIDS and Schoolchildren in America's Communities
Authors: Frederic C. Kass
Journal: JAMA (1990)

<h3>AIDS, the True Story: A Comprehensive Guide,</h3> by B. K. Ambati and J. K. Ambati, 175 pp, Buffalo, NY, BJ Publications, 1989. The summer of 1985 and the nine months that followed will be remembered as the year that the acquired immunodeficiency syndrome (AIDS) arrived at the doorsteps of America's public schools. Not since the struggles over racial integration had the nation's schools been the site of such drama, passion, and confrontation. In New York City, for example, school officials announced, on the eve of the school year, that a single, unnamed child with AIDS would be enrolled as a second grader somewhere in the public school system. That announcement touched off a boycott in two Queens school districts; between 9000 and 11000 children were kept at home. Demonstrating parents stood by a mock coffin in which a child had been placed and over which a sign read: "Is This
Editorial: Terms, concepts, and objectives
Authors: Z. Danilevicius
Journal: JAMA (1976)

If the physician who lived and worked only 50 years ago could be recalled to the practice of medicine today, he would be bewildered by the jargon used by his colleagues. He would be dumbfounded by terms like "primary care," "community medicine," "health-care delivery," "health-care centers," "family medicine," "total care," and "regional health centers." Are these terms necessary? Some should not be used at all. For example, I know of obstetrical delivery, but I cannot imagine what "healthcare delivery" is. I never understood what a "walk-in clinic" means. Is it a clinic where the patient walks in when he likes or is it a clinic to which the doctor walks instead of arriving by other means? Other terms, though legitimate, are imprecise. "Community medicine," "healthcare systems," "ambulatory care," and "primary medical care" do not convey the same meaning to all physicians. "Primary care" should mean medical aid at a doctor's
AFLP Analysis of a Collection of Tetraploid Wheats Indicates the Origin of Emmer and Hard Wheat Domestication in Southeast Turkey
Authors: H. Özkan, A. Brandolini, R. Schäfer-Pregl, F. Salamini
Journal: Molecular Biology and Evolution (2002)

Western agriculture and its most important crop plants are thought to have originated about 10,000 years ago in the Fertile Crescent, a geographical region extending from modern-day Israel, Jordan, Lebanon, and western Syria into southeastern Turkey and along the Tigris and Euphrates rivers into Iraq and Iran (Smith 1995; Bar-Yosef 1998; Diamond 1998; Moore, Hillman, and Legge 2000; Zohary and Hopf 2000; Gopher, Abbo, and Lev-Yadun 2002). Two traditional lines of evidence support that view. First, the geographical distributions of wild progenitors of modern cereal species, among them wild wheats (Triticum urartu, T. boeoticum, T. dicoccoides, Aegilops tauschii), wild barley (Hordeum spontaneum), and wild rye (S. vavilovii), intersect in this region (Nesbitt and Samuel 1996; Moore, Hillman, and Legge 2000; Zohary and Hopf 2000; Gopher, Abbo, and Lev-Yadun 2002). Second, seeds of the wild species occur in early archaeological sites of the region, followed in radiocarbon age and stratigraphic succession by the remains of domesticated forms (Moore, Hillman, and Legge 2000; Zohary and Hopf 2000; Gopher, Abbo, and Lev-Yadun 2002). Recently, molecular evolutionary studies have also begun to weigh heavily on this issue. Genetic identification of the natural stands from which wild crops were domesticated addresses the question of where specifically within the Fertile Crescent humans invented agriculture. The approach involves comparing wild and domesticated populations using molecular markers, which give genome-wide estimates of genetic similarity (Heun et al. 1997; Badr et al. 2000; Martin and Salamini 2000). One of the most promising of these techniques is amplified fragment length polymorphism (AFLP), a polymerase chain reaction (PCR)-based procedure that resolves radioactively labeled electrophoretic bands (polymorphic loci) on sequencing gels. Using AFLPs, the site of domestication of einkorn—a diploid wheat—was identified from the analysis of 288 AFLP marker loci (Heun et al. 1997). Those results indicated that wild populations from the Karacadag Mountains of southeastern Turkey are more similar to domesticated einkorn than other wild populations are (Heun et al. 1997). Archaeobotanical remains at early settlements near Karacadag, including Cafer Hoyuk (de Moulins 1993), Cayonu (van Zeist and de Roller 1991–2), Nevali Cori (Pasternak 1998), and Abu Hureyra (de Moulins 2000; Hillman 2000), provided independent evidence for the domestication of einkorn near
Pro-resolving actions and stereoselective biosynthesis of 18S E-series resolvins in human leukocytes and murine inflammation
Authors: Sungwhan F. Oh, Padmini S. Pillai, Antonio Recchiuti, Rong Yang, Charles N. Serhan
Journal: Journal of Clinical Investigation (2011)

E-series resolvins are antiinflammatory and pro-resolving lipid mediators derived from the ω-3 polyunsaturated fatty acid eicosapentaenoic acid (EPA) that actively clear inflammation to promote tissue homeostasis. Aspirin, in addition to exerting antithrombotic actions, also triggers the biosynthesis of these specialized pro-resolving mediators. Here, we used metabolomic profiling to investigate the biosynthesis of E-series resolvins with specific chiral chemistry in serum from human subjects and present evidence for new 18S series resolvins. Aspirin increased endogenous formation of 18S-hydroxyeicosapentaenoate (18S-HEPE) compared with 18R-HEPE, a known resolvin precursor. Human recombinant 5-lipoxygenase used both enantiomers as substrates, and recombinant LTA4 hydrolase (LTA4H) converted chiral 5S(6)-epoxide-containing intermediates to resolvin E1 and 18S-resolvin E1 (RvE1 and 18S-RvE1, respectively). 18S-RvE1 bound to the leukocyte GPCRs ChemR23 and BLT1 with increased affinity and potency compared with the R-epimer, but was more rapidly inactivated than RvE1 by dehydrogenase. Like RvE1, 18S-RvE1 enhanced macrophage phagocytosis of zymosan, E. coli, and apoptotic neutrophils and reduced both neutrophil infiltration and proinflammatory cytokines in murine peritonitis. These results demonstrate two parallel stereospecific pathways in the biosynthesis of E-series resolvins, 18R- and 18S-, which are antiinflammatory, pro-resolving, and non-phlogistic and may contribute to the beneficial actions of aspirin and ω-3 polyunsaturated fatty acids.
The metabolism of tertiary amines
Authors: Janine Rose, Neal Castagnoli
Journal: Medicinal Research Reviews (1983)

The metabolism of tertiary amines is mediated primarily by cytochrome P-450 and MFAO, leading to alpha-C oxidation and N-oxidation, respectively. We have discussed how lipophilicity, basicity, steric hindrance, and stereochemistry can effect the outcome of metabolism as well as species, sex, and age. The proposed oxidation of tertiary amines to iminium ions by cytochrome P-450 may explain the isolation of various intramolecular and cyanide-trapped metabolites. N-oxides may represent a smaller percentage of the overall in vitro metabolism of tertiary amines due to the postmortem inactivation of MFAO. In addition N-oxide reducing enzymes present in vivo and in vitro may influence the extent of N-oxide formation. In general, definite conclusions about substrate requirements have been difficult to formulate because of the numerous biological and physical parameters affecting the outcome of metabolism. More singularly directed research on a single species of animal and a wide variety of substrates or vice versa would greatly increase our understanding of the potential metabolism of tertiary amine xenobiotics.
What's the point of rigorous research on complementary/alternative medicine?
Authors: E Ernst
Journal: Journal of the Royal Society of Medicine (2002)

I have probably heard them all—the often weird and wonderful arguments against applying the principles of science to complementary/alternative medicine (CAM)1. Specifically, the arguments against testing the efficacy of therapeutic approaches in CAM have worried me frequently and profoundly. Here I address eight arguments, all of which find expression in many different ways. I hope that the views expressed, even though doubtless biased, will stimulate constructive debate.
A 45-Year-Old Woman With Premenstrual Dysphoric Disorder, 1 Year Later
Authors: Erin E. Hartman
Journal: JAMA (1999)

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
The accuracy of inferring left ventricular volume from dimension depends on the frequency of information needed to answer a given question.
Authors: B K Slinker, S A Glantz
Journal: Circulation Research (1985)

Left ventricular volume is an important variable in cardiovascular physiology. Because volume cannot be transduced directly, by necessity people measure one or more cardiac dimensions, then implicitly or explicitly estimate volume. Despite its common use, this practice has never been adequately justified. Previous validations of the use of left ventricular dimensions to infer volume have ignored the complexity of the relation between dimensions and volume, particularly over a broad range of hemodynamic states, and have not considered the frequency content of the volume signal needed to answer a given physiological question. We show that, strictly speaking, the assumptions underlying this practice are false. The resulting errors are of little practical consequence under many circumstances, whereas they can be quite important under other circumstances. We consider the frequency content of the volume signal to organize our examples and findings. In this general framework, we find that, for most assessments of volume change from dimension change at or below a frequency of about the heart rate (e.g., beat-to-beat end-diastolic volume), there is no limitation, provided all relevant dimensions are measured. However, for information at frequencies above the heart rate (i.e., rapid changes in volume or dimension), it is probably not possible to draw accurate conclusions about left ventricular volume from dimension data.
How Many 3D Structures Do We Need to Train a Predictor?
Authors: Pantelis G. Bagos, Georgios N. Tsaousis, Stavros J. Hamodrakas
Journal: Genomics Proteomics & Bioinformatics (2009)

Abstract It has been shown that the progress in the determination of membrane protein structure grows exponentially, with approximately the same growth rate as that of the water-soluble proteins. In order to investigate the effect of this, on the performance of prediction algorithms for both α-helical and β-barrel membrane proteins, we conducted a prospective study based on historical records. We trained separate hidden Markov models with different sized training sets and evaluated their performance on topology prediction for the two classes of transmembrane proteins. We show that the existing top-scoring algorithms for predicting the transmembrane segments of α-helical membrane proteins perform slightly better than that of β-barrel outer membrane proteins in all measures of accuracy. With the same rationale, a meta-analysis of the performance of the secondary structure prediction algorithms indicates that existing algorithmic techniques cannot be further improved by just adding more non-homologous sequences to the training sets. The upper limit for secondary structure prediction is estimated to be no more than 70% and 80% of correctly predicted residues for single sequence based methods and multiple sequence based ones, respectively. Therefore, we should concentrate our efforts on utilizing new techniques for the development of even better scoring predictors.
First Complex Disasters Symposium Features Dramatically Timely Topics
Authors: Andrew A. Skolnick
Journal: JAMA (1995)

IT SEEMS tragically prophetic that the first Harvard University Symposium on Complex Disasters was held only 9 days before a terrorist's bomb smashed the federal office building in Oklahoma City, killing 168 men, women, and children and sending psychological shock waves throughout the nation. The bombing and its aftermath illustrate many of the issues discussed at the 2-day conference, which explored ways of meeting the complex medical, public health, psychological, and logistical challenges that follow natural and man-made disasters. The symposium, held in Boston, Mass, and sponsored by Harvard Medical School, Harvard School of Public Health, and the Harvard Forum on Disasters, brought together an interdisciplinary group of experts to examine the ethical and logistical problems that follow disasters—from hurricanes to major airplane crashes, earthquakes to civil wars, floods to acts of terrorism. Among the subjects discussed were ways of improving policy planning for disaster management, handling the logistics of
Coping Behaviors of Severe Diabetics
Authors: Rishun Sinzato, Osamu Fukino, Hitoshi Isizu, Tetsuya Nakagawa, Yujiro Ikemi
Journal: Psychotherapy and Psychosomatics (1985)

In order to study the relationship between personality and the development of diabetic retinopathy in patients with diabetes mellitus, diabetics with retinopathy (severe group) and sex-, age-, and duration-matched diabetics without complications were tested by psychological tests, and interviewed. The result of the Yatabe-Guilford personality test (Y-G) and Spielberger's State and Trait Anxiety Inventory revealed that subjects were emotionally and socially stable and well-adjusted types and less anxious in the severe group than in the mild group. The interview findings reveal that the severe group had neglected the medical treatment and the diet therapy for significantly longer periods of time and the incidence of a childhood parental separation was significantly higher in the severe group than in the mild group. Discussion focuses on the severe diabetics' coping behavior which is characterized by the neglect of medical treatment and diet therapy for extended periods of time, which in turn resulted in diabetic retinopathy and other complications. Such coping behavior is shown to be equivalent to that found in the alexithymic behavioral syndrome.
The Voice and Its Disorders
Authors: Friedrich S. Brodnitz
Journal: JAMA (1965)

This book by a well-known British speech therapist first appeared in 1957. The new edition is in many respects a new book, and in its new form has a more general appeal to physicians as well as to speech therapists. The first edition had serious shortcomings that limited its value. Most of the references were British, the American literature was poorly presented, and practically no notice had been taken of the research done by phoniatrists and laryngologists in the countries outside of the Anglo-Saxon orbit. The phoniatrist will regard the new edition with much approval and some reservations. It is a well-written book, easy to read, and the wide experience of the author in treating all forms of disorders of the voice is quite apparent. For the physician and the speech therapist the many detailed case histories are of great value. A new interesting chapter on dysarthrophonia—the phoniatric counterpart of
ZBTB1 is a determinant of lymphoid development
Authors: Owen M. Siggs, Xiaohong Li, Yu Xia, Bruce Beutler
Journal: The Journal of Experimental Medicine (2011)

In this study, we describe a chemically induced mouse mutation that caused a complete and cell-intrinsic T cell deficiency. Development of other lymphoid lineages was also partially impaired and was severely compromised under competitive conditions. Positional cloning, retroviral transduction, and a somatic reversion event revealed that the causative mutation lay within Zbtb1 (zinc finger and BTB domain containing 1), a gene conserved throughout vertebrate evolution. Our data establish ZBTB1 as a critical determinant of T cell development and lymphopoiesis in general, most likely by acting as a transcriptional regulator.
Carcinoid tumour of the gall bladder: two case reports and a review of published works
Authors: D J Deehan, S D Heys, N Kernohan, O Eremin
Journal: Gut (1993)

This paper reports on two patients with carcinoid tumours of the gall bladder who presented to the Aberdeen hospitals during the period 1970 to 1990 and reviews all previously reported cases in published works.
Continuous 24-hour assessment of the neural regulation of systemic arterial pressure and RR variabilities in ambulant subjects.
Authors: R Furlan, S Guzzetti, W Crivellaro, S Dassi, M Tinelli, G Baselli, S Cerutti, F Lombardi, M Pagani, A Malliani
Journal: Circulation (1990)

In this study, we tested the hypothesis that the neural control of circulation in humans undergoes continuous but in part predictable changes throughout the day and night. Dynamic 24-hour recordings were obtained in two groups of ambulant subjects. In 18 hospitalized patients free to move, direct high-fidelity arterial pressures and electrocardiograms were recorded, and in an additional 28 nonhospitalized subjects, only electrocardiograms were obtained. Spectral analysis of systolic arterial pressure and of RR interval variabilities provided quantitative markers of sympathetic and vagal control of the sinus node and of sympathetic modulation of vasomotor tone. With this approach, the low-frequency (approximately 0.1 Hz) component of RR interval and systolic arterial pressure variabilities is considered a marker primarily of sympathetic activity, whereas the high-frequency (approximately 0.25 Hz) component of RR interval variability, related to respiration, seems to be a marker primarily of vagal activity. We observed a pronounced and consistent reduction in the markers of sympathetic activity and an increase in those of vagal activity during the night. In the invasive studies, while the subjects were still lying in bed after waking up, the markers of sympathetic activity rose rapidly and concomitantly with a simultaneous vagal withdrawal. Noninvasive studies confirmed the early morning rise of the markers of sympathetic activity and the circadian pattern of sympathovagal balance. These data indicate that the ominously increased rate of cardiovascular events in the morning hours may reflect the sudden rise of sympathetic activity and the reduction of vagal tone.
Hepatic Function and Fibrinolysis in Patients with Hereditary Angioedema Undergoing Long‐Term Treatment with Tranexamic Acid
Authors: Angelo Agostoni, Bianca Marasini, Marco Cicardi, Giancarlo Martignoni, Lilj Uziel, Maurezio Pietrogrande
Journal: Allergy (1978)

Prophylactic treatment with antifibrinolytic agents, epsilon-aminocaproic and tranexamic acid, reduces the incidence and severity of attacks in patients with hereditary angioedema. Long-term effectiveness or risk of antifibrinolytic agents has not been established. Sixteen patients needing continuous prophylaxis because of frequency and severity of attacks were treated with tranexamic acid. In four patients this treatment was ineffective and the drug was withdrawn after 2 months. A remission or reduction in the frequency or severity of attacks was observed in 12 patients treated for a period ranging from 8 to 34 months. Hepatic tests and blood fibrinolytic activity were not influenced by long-term oral treatment with tranexamic acid.
Diagnostic Yield and Endoscopic Patterns of Laparoscopy in the Diagnosis of Granulomatous Hepatitis
Authors: M. Moretó, M. Testillano, M. Zaballa, M. Suárez, S. Ibáñez
Journal: Endoscopy (1988)

In reviewing 54 cases of granulomatous hepatitis (GH) diagnosed among 2,620 laparoscopies, we have been able to classify the capsular GH changes into five patterns: Macular, exudative, pinpoint, granular and cord-like. The exudative pattern was the most frequent one, and predominated in brucellosis. The granular pattern was most common in tuberculosis. Furthermore, 35 additional cases, in whom a laparoscopic diagnosis of GH was not confirmed by liver biopsy, showed a trend to a final diagnosis consistent with multifocal diseases, whenever laparoscopic pictures were similar to the patterns described herein. We speculate with the limits associated with the use of only a single biopsy sample. We conclude that laparoscopy permits the establishment of a tentative diagnosis of GH, which could provide us with valuable information about the usefulness of obtaining multiple hepatic biopsies.
Altered 99mTc-Pertechnetate Distribution in a Thyroid Scan After 99mTc-Sn Pyrophosphate Administration
Authors: EDUARDO B. MONTELIBANO, DAN R. FORD, BETTYE A. SAYLE
Journal: Clinical Nuclear Medicine (1979)

MONTELIBANO, EDUARDO B. M.D.; FORD, DAN R. JR. Pharm.D; SAYLE, BETTYE A. M.D. Author Information