tbuckley/cabot-search huggingface dataset:
Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Authors: Vijay G. Sankaran, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan H. Beggs, Colin A. Sieff, Stuart H. Orkin, David G. Nathan, Eric S. Lander, Hanna T. Gazda
Journal: Journal of Clinical Investigation (2012)

Diamond-Blackfan anemia (DBA) is a hypoplastic anemia characterized by impaired production of red blood cells, with approximately half of all cases attributed to ribosomal protein gene mutations. We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. This mutation, which occurred at a splice site of the GATA1 gene, impaired production of the full-length form of the protein. We further identified an additional patient carrying a distinct mutation at the same splice site of the GATA1 gene. These findings provide insight into the pathogenesis of DBA, showing that the reduction in erythropoiesis associated with the disease can arise from causes other than defects in ribosomal protein genes. These results also illustrate the multifactorial role of GATA1 in human hematopoiesis.
EARLY REPOLARIZATION PATTERN: CLINICAL CORRELATES OF SPECIFIC ELECTROCARDIOGRAPHIC SUBTYPES AND GENOME WIDE ASSOCIATION STUDY OF A SARDINIAN POPULATION
Authors: Sameer M. Jamal, James Strait, Osorio Meirelles, Jun Ding, Lindsay D. Mehring, Brett Sperry, Abdulghani Saadi, Tania Singh, John Nayda, Ajoy Karikkineth, Kirill Tarasov, Marco Orru, Pim Van der Harst, Niek Verweij, Mariano Dei, Francesco Cucca, David Schlessinger, Edward Lakatta
Journal: Journal of the American College of Cardiology (2012)
Serum Osteopontin Levels are Highly Prognostic for Survival in Advanced Non-small Cell Lung Cancer: Results from JMTO LC 0004
Authors: Shun-Ichi Isa, Tomoya Kawaguchi, Satoshi Teramukai, Koichi Minato, Yoshinobu Ohsaki, Kazuhiko Shibata, Toshirou Yonei, Kenji Hayashibara, Masanori Fukushima, Masaaki Kawahara, Kiyoyuki Furuse, Philip C. Mack
Journal: Journal of Thoracic Oncology (2009)
Platelet-derived growth factor inhibits bone regeneration induced by osteogenin, a bone morphogenetic protein, in rat craniotomy defects.
Authors: L J Marden, R S Fan, G F Pierce, A H Reddi, J O Hollinger
Journal: Journal of Clinical Investigation (1993)

Platelet-derived growth factor (PDGF) is a potent moderator of soft tissue repair through induction of the inflammatory phase of repair and subsequent enhanced collagen deposition. We examined the effect of recombinant BB homodimer PDGF (rPDGF-BB) applied to rat craniotomy defects, treated with and without bovine osteogenin (OG), to see if bone regeneration would be stimulated. Implants containing 0, 20, 60, or 200 micrograms rPDGF-BB, reconstituted with insoluble rat collagenous bone matrix containing 0, 30, or 150 micrograms OG, were placed into 8-mm craniotomies. After 11 d, 21 of the 144 rats presented subcutaneous masses superior to the defect sites. The masses, comprised of serosanguinous fluid encapsulated by fibrous connective tissue, were larger and occurred more frequently in rats treated with 200 micrograms rPDGF-BB, and were absent in rats not treated with rPDGF-BB. The masses underwent resorption within 28 d after surgery. OG (2-256 micrograms) caused a dose-dependent increase in radiopacity and a marked regeneration of calcified tissue in a dose-dependent fashion within defect sites. However, OG-induced bone regeneration was inhibited 17-53% in the presence of rPDGF-BB. These results suggest that rPDGF-BB inhibited OG-induced bone regeneration and stimulated a soft tissue repair wound phenotype and response.
STEROID-HORMONE RECEPTORS AND SURVIVAL AFTER FIRST RELAPSE IN BREAST CANCER
Authors: A. Howell, R.N.L. Harland, V.H.C. Bramwell, R. Swindell, D.M. Barnes, J. Redford, M.J.S. Wilkinson, D. Crowther, R.A. Sellwood
Journal: The Lancet (1984)
A Comprehensive Alcoholism Program in the Army
Authors: BYRON G. FIMAN, DARYL R. CONNER, A. CARL SEGAL
Journal: American Journal of Psychiatry (1973)

The authors describe the development and operation of a comprehensive alcoholism program at Fort Benning, Ga., that might serve as a model for community alcoholism treatment. The factors that seemed especially important in the success of the Fort Benning program were: establishing working relationships with medical personnel to provide physical examinations and detoxification services; offering a variety of therapies to meet patient needs; establishing an intensive treatment program that maintains community support and does not generate the kind of iatrogenic invalidism associated with classic inpatient care; introducing a systems approach to ensure comprehensiveness and continuity of care; fostering broad community involvement in planning and implementation; staff education and development; and involvement in bringing about changes in civilian and military attitudes toward alcoholism and alcoholics.
CYTOMEGALOVIRUS AND KAPOSI'S SARCOMA IN YOUNG HOMOSEXUAL MEN
Authors: W.Lawrence Drew, RichardC. Miner, JohnL. Ziegler, JohnH. Gullett, DonaldI. Abrams, MarcusA. Conant, Eng-Shang Huang, JamesR. Groundwater, Paul Volberding, Lawrence Mintz
Journal: The Lancet (1982)
Right Upper Lobe Mass in a Shepherd
Authors: James Dexter
Journal: JAMA (1981)

<h3>History</h3> A 44-year-old Basque man (13-year resident of southern California) was hospitalized because of a ten-day episode of cough, right-sided chest pain, and mild hemoptysis. He had been a shepherd in Spain as well as in southern California. His immigration chest x-ray film in 1965 was reported as "normal," and his history was otherwise noncontributory. An intermediate-strength (5-TU biological equivalent) skin test was nonreactive; a Casoni skin test reaction was negative; a complete blood cell count, including levels of eosinophils, was normal. Bilirubin and liver enzymes levels were normal. The liver-spleen scan did not demonstrate focal defects. Posteroanterior and lateral roentgenograms of the chest at the time of admission are shown in Fig 1 and 2. <h3>Section Coordinators:</h3> Thomas C. Beneventano, MD (Case of the Month); Juan A. del Regato, MD (Therapeutic Radiology); Jack Edeiken, MD (Diagnostic Radiology); Barry B. Goldberg, MD (Ultrasonography); E. Robert Heitzman, MD (Diagnostic Radiology); Stanley
Oral Exposure to Bisphenol A Increases Dimethylbenzanthracene-Induced Mammary Cancer in Rats
Authors: Sarah Jenkins, Nandini Raghuraman, Isam Eltoum, Mark Carpenter, Jose Russo, Coral A. Lamartiniere
Journal: Environmental Health Perspectives (2009)

Bisphenol A (BPA) is widely used in the manufacture of polycarbonate plastics, including infant formula bottles.
Cytomegalovirus inclusions in the gastroduodenal mucosa of patients after renal transplantation.
Authors: G Franzin, A Muolo, T Griminelli
Journal: Gut (1981)

Biopsies collected from gastroduodenal mucosa during endoscopic examination of 20 patients having undergone renal transplantation and subsequent immunosuppressive therapy showed cytomegalovirus (CMV) inclusion bodies in nine cases. CMV antibody titres were tested in all patients before and after the transplant procedure. Not all patients exhibited viraemia-related symptoms at the time of endoscopy. No correlation was found between the presence of CMV-type cells within the gastroduodenal mucosa, endoscopic and histological findings, the duration of the transplant, and the dosage of immunosuppressive drugs. The duodenum seems to be the elective site of CMV. The involvement of gastric mucosa seems to represents a worsening of the illness. Eight of nine patients with positive biopsies for CMV inclusion had negative pretransplant antibody titres to CMV. All nine patients were seropositive after transplantation and showed seroconversion. Five of 11 recipients with negative biopsies for CMV inclusion bodies, were seronegative before transplantation. Seroconversion occurred in five patients after the transplant; the other six had no rise in antibody titres. The lack of pre-transplant CMV antibody titre and its subsequent increase after transplantation identifies a greater risk of developing post-transplant CMV infection.
Novel mutations in the inhibitory adaptor protein LNK drive JAK-STAT signaling in patients with myeloproliferative neoplasms
Authors: Stephen T. Oh, Erin F. Simonds, Carol Jones, Matthew B. Hale, Yury Goltsev, Kenneth D. Gibbs, Jason D. Merker, James L. Zehnder, Garry P. Nolan, Jason Gotlib
Journal: Blood (2010)
Two subsets of epithelial cells in the thymic medulla.
Authors: C D Surh, E K Gao, H Kosaka, D Lo, C Ahn, D B Murphy, L Karlsson, P Peterson, J Sprent
Journal: The Journal of Experimental Medicine (1992)

Information was sought on the features of epithelial cells in the murine thymic medulla. The expression of major histocompatibility complex (MHC) molecules on medullary epithelium was defined by light microscopy with the aid of bone marrow chimeras and MHC-transgenic mice. A proportion of medullary epithelial cells was found to show conspicuously high expression of conventional MHC (H-2) class I (K, D, L) and class II (I-A, I-E) molecules. These cells express a high density of the Y-Ae epitope, a complex of an E alpha peptide and I-Ab molecules found on typical bone marrow-derived cells. MHC+ medullary epithelial cells show limited expression of I-O molecules, a class of atypical nonpolymorphic MHC-encoded class II molecules present on B cells. Other medullary epithelial cells express a high density of I-O molecules but show little or no expression of typical MHC class I or II molecules. MHC and I-O expression thus appear to subdivide medullary epithelial cells into two phenotypically distinct subsets. This applies in adults. In the embryonic thymus most medullary epithelial cells express both types of molecules.
Protease resistance and binding of Ig light chains in myeloma-associated tubulopathies
Authors: Marianne Leboulleux, Brigitte Lelongt, Beatrice Mougenot, Guy Touchard, Raifah Makdassi, Anna Rocca, Laure-Helene Noel, Pierre M. Ronco, Pierre Aucouturier
Journal: Kidney International (1995)
It’s Time for a Better Blood Collection Tube to Improve the Reliability of Glucose Results
Authors: Michael J. Peake, David E. Bruns, David B. Sacks, Andrea R. Horvath
Journal: Diabetes Care (2012)

Glucose is unstable in whole blood (1). Fluoride-containing tubes are used to reduce glycolysis, especially when very accurate glucose results are required. Complete inhibition of glycolysis by fluoride can take as long as 4 h, during which time glucose can fall as much as 10 mg/dL (0.6 mmol/L) at room temperature (1), even in samples with normal blood cell counts. This is because fluoride inhibits the enzyme enolase, which acts late in the Embden-Meyerhof pathway, thus allowing the “breakdown” of glucose to intermediate molecules earlier in the glycolytic cycle (2). Is there a better fluoride …
In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR.
Authors: R C Rubenstein, M E Egan, P L Zeitlin
Journal: Journal of Clinical Investigation (1997)

The most common cystic fibrosis transmembrane conductance regulator mutation, delta F508-CFTR, is a partially functional chloride channel that is retained in the endoplasmic reticulum and degraded. We hypothesize that a known transcriptional regulator, sodium 4-phenylbutyrate (4PBA), will enable a greater fraction of delta F508-CFTR to escape degradation and appear at the cell surface. Primary cultures of nasal polyp epithelia from CF patients (delta F508 homozygous or heterozygous), or the CF bronchial epithelial cell line IB3-1 (delta F508/W1282X) were exposed to 4PBA for up to 7 d in culture. 4PBA treatment at concentrations of 0.1 and 2 mM resulted in the restoration of forskolin-activated chloride secretion. Protein kinase A-activated, linear, 10 pS chloride channels appeared at the plasma membrane of IB3-1 cells at the tested concentration of 2.5 mM. Treatment of IB3-1 cells with 0.1-1 mM 4PBA and primary nasal epithelia with 5 mM 4PBA also resulted in the appearance of higher molecular mass forms of CFTR consistent with addition and modification of oligosaccharides in the Golgi apparatus, as detected by immunoblotting of whole cell lysates with anti-CFTR antisera. Immunocytochemistry in CF epithelial cells treated with 4PBA was consistent with increasing amounts of delta F508-CFTR. These data indicate that 4PBA is a promising pharmacologic agent for inducing correction of the CF phenotype in CF patients carrying the delta F508 mutation.
Respiratory symptoms in urban Hispanic and non-Hispanic white women.
Authors: M M David, J P Hanrahan, V Carey, F E Speizer, I B Tager
Journal: American Journal of Respiratory and Critical Care Medicine (1996)

The prevalence and predictors of wheeze syndromes, including asthma, were examined among 475 non-Hispanic (NH) white and 371 Hispanic pregnant women enrolled in a population-based study in East Boston, Massachusetts. Respiratory symptoms and risk factors were ascertained by questionnaire early in pregnancy. Hispanic and NH white women were of similar age (mean +/- SD, 26 +/- 5 yr), but Hispanics reported less schooling (30 versus 50% completed high school), a lower frequency of household pets (4 versus 47%), and a lower frequency of parental asthma (6 versus 12%). Hispanics smoked significantly less than NH whites did, both in prevalence (8 versus 50%) and number of cigarettes per day among current smokers (12 +/- 9 versus 22 +/- 10; p < 0.0001). Hispanics reported a lower frequency than NH whites did of doctor-diagnosed asthma (6 versus 12%), persistent wheeze (5 versus 19%), and either persistent wheeze or asthma (11 versus 30%). In multivariate analysis, active cigarette smoking and parental history of asthma were associated most strongly with wheeze syndromes. When these two factors as well as educational level, presence of household pets, and height2-adjusted FEV1 were controlled, Hispanics remained at lower risk of asthma (odds ratio [OR] 0.71; 95% confidence interval [CI], 0.37-1.37) and persistent wheeze (OR 0.48; 95% CI, 0.25-0.95) than NH whites. These results suggest that chronic wheeze syndromes are common among young urban women and are associated with both active smoking and a parental history of asthma. Hispanic women from Central and South America living in urban environments in the United States may be at less risk for these conditions than NH white women, in contrast to those from Puerto Rico.
Epidemiology of Legionnaires' Disease
Authors: THEODORE C. EICKHOFF
Journal: Annals of Internal Medicine (1979)

Ten recorded epidemics of Legionnaires' disease are reviewed to gain a working perspective on the epidemiology of the disease. Salient features have included a summer-fall seasonality, a male predominance that may largely reflect increased exposure risk among men, and a striking absence of person-to-person spread. That the disease is spread primarily via the airborne route is well established; air-treatment and air-conditioning equipment has been implicated as the amplification and delivery system in four epidemics. Soils and excavation sites have been suggested as sources of the organism in at least one recorded epidemic. Evidence to date suggests that the Legionnaires' disease bacterium may be widespread in nature. More complete epidemiologic understanding must await development of improved microbiologic and immunologic tests.
Active deformation fields: Dense deformation field estimation for atlas-based segmentation using the active contour framework
Authors: Subrahmanyam Gorthi, Valérie Duay, Xavier Bresson, Meritxell Bach Cuadra, F. Javier Sánchez Castro, Claudio Pollo, Abdelkarim S. Allal, Jean-Philippe Thiran
Journal: Medical Image Analysis (2011)
47. A Combination Therapy of Selective Intraarterial Gendicine Infusion with Chemotherapy for Locally Advanced Head and Neck Carcinoma
Authors: Longjiang Li, Yuanding Huang, Lijuan Wang, Yi Li, Yuming Wen, Bo Han
Journal: Molecular Therapy (2006)

Purpose: To evaluate the safety and curative effect of selective intraarterial rAd-p53 infusion combined with chemotherapy for locally advanced HNC, 23 patients were enrolled into a prospective clinical phase II study. Materials and Method: Twenty-three patients with locoregionally advanced SCC or ACC were subdivided into three groups. All patients underwent unilateral or bilateral retrograde selective catheterization of ECA. Through the arterial pumps, rAd-p53 combined with chemotherapeutic agents was administrated to group I (7 patients), rAd-p53 was administrated to group II (6 patients), and chemotherapeutic agents were administrated to group III Results: The complete response (CR) rate of group I (28.57%) was higher than that of group II (16.67%) and group III (10%). No replication-deficient virus was detected in patients' serum, urine or sputum at any assay. Comparing with group III, the clinical toxic syndromes and complications in the combination therapy group were significantly decreased vs. that of chemotherapy group for both the number of cases and the extent (P<0.05). The transactivation of Bax and inactivation of Bcl-2 were only observed in group I and II. Conclusion: Routine chemotherapy combined with rAd-p53 infusion can increase the curative effect and decrease the toxic implication of chemotherapy. Aberration: HNC, head and neck carcinoma; ACC, adenoid cystic carcinoma; SCC, squamous cell carcinoma; ECA, external carotid artery; CR, complete response.
Hematologic Changes in Anorexia Nervosa
Authors: Philip C. Amrein
Journal: JAMA (1979)

WE RECENTLY encountered a patient with anorexia nervosa who demonstrated pancytopenia, a hypoplastic bone marrow, and notable acanthocytosis. Although this constellation of findings has been reported in anorexia nervosa, to our knowledge, it is not fully described in major textbooks of hematology and has not previously been reported in the American medical literature. In addition, we have further verified the association of acanthocytosis and low levels of β-lipoproteins in a patient with anorexia nervosa. <h3>Report of a Case</h3> An 18-year-old woman had been examined for weight loss and amenorrhea in 1975 and had the diagnosis of anorexia nervosa since that time. She had been hospitalized one week before admission because of worsening anorexia and cachexia. At that time the hematocrit value was 40%, and the WBC count was 3,400/cu mm, with a normal differential cell count. No comment was made about an abnormal RBC morphological condition. Following 12 hours of
Successful treatment of pure red cell aplasia with autologous stem cell transplantation
Authors: Jae H. Park, Thomas Spitzer, David J. Kuter
Journal: American Journal of Hematology (2007)

We report a case of 64-year-old patient with pure red cell aplasia (PRCA) who was intolerant of conventional immunosuppressive therapies but achieved a complete long-term remission following autologous hematologic stem cell transplant (HSCT). The patient was initially treated with high-dose prednisone, cyclophosphamide, cyclosporine, antithymocyte globulin, and then rituximab. With the exception of rituximab, all of the above regimens achieved a transient response. However, because of the persistent requirement for red blood cell transfusions and intolerance to the multiple immunosuppressive therapies, autologous HSCT was eventually performed. The patient remains in complete remission and on no other therapy for 36 months following the autologous HSCT.
Should we throw the baby out with the bathwater?
Authors: C. McDonald
Journal: BMJ (2011)

<h3>Abstract</h3> Neural circuits coordinate with muscles and sensory feedback to generate motor behaviors appropriate to an animal’s environment. In <i>C. elegans,</i> the mechanisms by which the motor circuit generates undulations and modulates them based on the environment are largely unclear. We quantitatively analyzed <i>C. elegans</i> locomotion during free movement and during transient optogenetic muscle inhibition. Undulatory movements were highly asymmetrical with respect to the duration of bending and unbending during each cycle. Phase response curves induced by brief optogenetic inhibition of head muscles showed gradual increases and rapid decreases as a function of phase at which the perturbation was applied. A relaxation oscillator model based on proprioceptive thresholds that switch the active muscle moment was developed and is shown to quantitatively agree with data from free movement, phase responses, and previous results for gait adaptation to mechanical loadings. Our results suggest a neuromuscular mechanism underlying <i>C. elegans</i> motor pattern generation within a compact circuit.
ELECTRICITY IN GYNECOLOGY.Read before the Mahoning County Medical Society, February 13,1893.
Authors: H. H. HAHN
Journal: JAMA (1893)

The practice of gynecology, during the last two decades, has undergone more violent revolutions, perhaps, than any other branch of medicine. But a short time ago it was believed and taught that displacements of the uterus were the foundation cause of nearly all pelvic troubles, and laboring under this delusion, but few cases of uterine disease could be properly treated without a carefully adjusted pessary. With nearly all gynecologists it was the<i>sine qua non</i>. To-day, the pessary is practically a thing of the past, and but seldom serves a useful purpose. At one time the most powerful caustics were applied, without reserve, to the endometrium; but soon they were dropped for the milder ones, and still later, the hot water douche and glycerine or boro-glyceride tampon have nearly displaced them all. At another time the lacerated cervix and perineum were the causes of all the ailments to which the
Expectorant promising for treating infant respiratory distress syndrome
Authors: John Henahan
Journal: JAMA (1983)

A drug originally developed as an expectorant for various respiratory conditions appears to reduce the incidence and mortality rate of respiratory distress syndrome (RDS) in preterm infants when administered antenatally to the mothers. It has been estimated that about 30,000 preterm infants die yearly in the United States from the effects of RDS. Called ambroxol, the agent also appears to hasten recovery from RDS when administered to affected infants soon after birth. Preliminary clinical findings indicate that the drug does not have the adverse effects of corticosteroids that currently are given antenatally to hasten lung maturation and avert RDS in infants expected to be born before term with immature lungs. Results with corticosteroids have been erratic, depending on the neonate's sex, race, and time of delivery, among other factors. By suppressing the immune system, the steroids leave both mother and infant highly susceptible to viral and bacterial infections. In addition,
Hodgkin's Disease
Authors: Philip Rubin
Journal: JAMA (1965)

There is much discussion as to whether Hodgkin's disease is unicentric or multicentric in origin. It is the concept of the pathogenesis of the disease that determines the attitude of the physician toward the patient and in turn the vigor and aggressiveness of therapy. If the opinion held is that the disease is multifocal and therefore a systemic process, the therapeutic approach is conservative and minimal therapy is used to control symptoms as they arise. That is, survival cannot be effected by present therapeutic modalities, and one should not overtreat the patient with radical approaches that may add to discomfort and lead to complications and even to the earlier death of the individual. The opposite view is that the disease originates in one site or lymphatic-bearing area. Thomson,' in particular, has developed the view that the thymus gland is the probable primary site of Hodgkin's disease, and that the failure