tbuckley/cabot-search huggingface dataset:
Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
Authors: Sumito Dateki, Kitaro Kosaka, Kosei Hasegawa, Hiroyuki Tanaka, Noriyuki Azuma, Susumu Yokoya, Koji Muroya, Masanori Adachi, Toshihiro Tajima, Katsuaki Motomura, Eiichi Kinoshita, Hiroyuki Moriuchi, Naoko Sato, Maki Fukami, Tsutomu Ogata
Journal: Endocrine Reviews (2010)

ABSTRACT Context Although recent studies have suggested a positive role of OTX2 in pituitary as well as ocular development and function, detailed pituitary phenotypes in OTX2 mutations and OTX2 target genes for pituitary function other than HESX1 and POU1F1 remain to be determined. Objective We aimed to examine such unresolved issues. Subjects We studied 94 Japanese patients with various ocular or pituitary abnormalities. Results We identified heterozygous p.K74fsX103 in case 1, p.A72fsX86 in case 2, p.G188X in two unrelated cases (3 and 4), and a 2,860,561-bp microdeletion involving OTX2 in case 5. Clinical studies revealed isolated GH deficiency in cases 1 and 5; combined pituitary hormone deficiency in case 3; abnormal pituitary structures in cases 1, 3, and 5; and apparently normal pituitary function in cases 2 and 4, together with ocular anomalies in cases 1-5. The wild-type Orthodenticle homeobox 2 (OTX2) protein transactivated the GNRH1 promoter as well as the HESX1, POU1F1, and IRBP (interstitial retinoid-binding protein) promoters, whereas the p.K74fsX103-OTX2 and p.A72fsX86-OTX2 proteins had no transactivation functions and the p.G188X-OTX2 protein had reduced (∼50%) transactivation functions for the four promoters, with no dominant-negative effect. cDNA screening identified positive OTX2 expression in the hypothalamus. Conclusions The results imply that OTX2 mutations are associated with variable pituitary phenotype, with no genotype-phenotype correlations, and that OTX2 can transactivate GNRH1 as well as HESX1 and POU1F1.
Intérêt clinique de la planimétrie par impédance dans la prise en charge de la dysphagie après traitement des cancers ORL
Journal: Endoscopy (2017)

Introduction: La radiochimiothérapie pour les cancers ORL avec ou sans laryngectomie se complique fréquemment de dysphagie, souvent due à une sténose de la jonction pharyngo-oesophagienne (JPO). Cette étude australienne avait pour objectifs, d'une part, de valider une technique de planimétrie par impédance (le système EndoFLIP) en tant qu’outil pour quantifier la distensibilité de la JPO chez des patients souffrant de dysphagie après traitement d'un cancer ORL et, d'autre part, de mesurer les capacités diagnostiques de la distensibilité évaluée par EndoFLIP dans la détection des sténoses de la JPO.
Folate deficiency and oral contraceptives
Authors: R. R. Streiff
Journal: JAMA (1970)

Orally administered contraceptive agents have become an everyday medication for many women in the United States as well as many other countries. A number of untoward effects<sup>1,2</sup>along with an ever increasing number of minor clinical or laboratory changes have been reported in women using orally administered contraceptives.<sup>2-4</sup>Recently folate deficiency and anemia have been associated with the use of orally administered contraceptives.<sup>5,6</sup>This report concerns seven cases of folate deficiency and anemia apparently due to orally administered contraceptives and studies on the effect of this type of medication on folate absorption. <h3>Clinical Observations</h3> Seven women (21 to 39 years of age) with folate deficiency and anemia were treated at the University of Florida or the Clinical Research Center between September 1968 and April 1969. These patients were taking no medication other than orally administered contraceptives and all had been taking them regularly for at least 1
Abstract 1914: Acute myeloid leukemia cell and stem-progenitor cell behavior studied in mimetic bone marrow microenvironment
Authors: Giorgia Simonetti, Marco Malferrari, Maila Becconi, Samantha Bruno, Giovanni Martinelli, Stefania Rapino
Journal: Cancer Research (2019)

Abstract The bone marrow (BM) microenvironment plays a pivotal role in the survival and chemoresistance of leukemia stem cells (LSC) in acute myeloid leukemia (AML). However, conventional culture approaches do not reflect physiological conditions of crucial anatomical districts and signals of incubation-induced dysregulation may confound leukemic transcriptome results. In vivo mimetic cultures of the LSC districts will significantly aid in the disentanglement of LSC mechanisms and in the assessment of the therapy. We engineered Petri dishes able to mimic the “hypoxic” conditions found in the stem cell niches and in BM district. Our approach is based on a patented method which controls the physiological concentrations of oxygen, glucose and pH in the culture environment. Cell proliferation and hypoxia-induced apoptosis in the engineered device were investigated for OCI-AML3 and KG1 AML cell lines. We observed a slight but significant reduction in cell proliferation compared with control cells for OCI AML-3, which is in line with a more quiescent cell condition. No significant differences were obtained by culturing KG-1 cells, which are more resistant to low oxygen concentrations. We have analyzed the effects of cell culturing in the hypoxic dishes on the expression of MYC and p21. Immunofluorescence analysis of HIF-1α levels and HIF-1α nuclear localization as a function of oxygen concentration were determined. Time-lapse experiments of AML cell lines and primary BM cells were performed in the in vivo mimetic device to elucidate the response of CD34+ AML cells to different oxygen concentrations. We tested an innovative cell culturing device able to mimic the dynamical conditions of oxygen content, which are found in vivo. Our results shed light on AML cells and progenitor-stem cells behavior in response to oxygen conditions in the BM niche and allow to disentangle the LSCs complex biology. This ”in vivo mimetic” approach will generate crucial information on the molecular mechanisms preserving LSC in AML, thus providing novel potential therapeutic targets to eradicate leukemia initiating cells in their own microenvironment, contrasting therapy resistance. Supported by: Associazione Italiana per la Ricerca sul Cancro, MFAG id. 19044. Citation Format: Giorgia Simonetti, Marco Malferrari, Maila Becconi, Samantha Bruno, Giovanni Martinelli, Stefania Rapino. Acute myeloid leukemia cell and stem-progenitor cell behavior studied in mimetic bone marrow microenvironment [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 1914.
Names for mycobacteria.
Authors: C H Collins, M Yates, J M Grange
Journal: BMJ (1984)

The Lord of the Rings To the founding fathers of bacteriology the nomenclature of pathogens was straightforward.Tuberculosis was caused by the tubercle bacillus and leprosy was caused by the leprosy bacillus and when these pathogens were allocated to the genus Mycobacterium this posed no problem, they merely became M tuberculosis and M leprae.This golden age of simplicity in nomenclature was, however, short lived as it soon became apparent that tubercle bacilli were not all identical and that some tuberculosis-like infections were caused by other myco- bacterial species that normally existed as saprophytes in the inanimate environment.In our experience mycobacterial nomenclature is a frequent source of confusion to physicians and we will thus attempt to shed some light on this subject. The tubercle bacillusThe name "tubercle bacillus" is derived from Robert Koch's term "Tuberkelbazillus" which included the causative agents of tuberculosis of mammals, especially man and cattle.During the early part of this century, largely as a result of the work of the British Royal Commission on Tuberculosis, two mammalian tubercle bacilli were recognised, human and bovine.(The avian tubercle bacillus was also described but this is now universally recognised as belonging to a distinct species, M avium.)These bacilli eventually became known by the separate specific names M tuberculosis and M bovis.Subsequently, a third member was added to this group-the vole tubercle bacillus or M microti-and more recently the term M africanum was introduced as a label for a heterogeneous group of bacilli responsible for cases of tuberculosis in man in parts of Africa.1 The latter group of strains appears to bridge the gap between the human and bovine types; those from east Africa have features in common with the former while those from west Africa more closely resemble the latter.3In 1975 Runyon proposed that the term "tubercle bacilli" should include M tuberculosis, M bovis, M africanum, and no others.4These three "species" all have official taxonomic status and are included in an internationally accepted list of species names (see table ).5 Nevertheless, these, together with
Nonlinear-dynamical arrhythmia control in humans David J. Christini, Kenneth M. Stein, Steven M. Markowitz, Suneet Mittal, David J. Slotwiner, Marc A. Scheiner, Sei Iwai, Bruce B. Lerman. The New York Hospital - Cornell University Medical Center, New York, NY
Journal: Journal of the American College of Cardiology (2001)
209. Correction of Hunter Syndrome in the MPSII Mouse Model by AAV2/8-Mediated Gene Delivery
Authors: Monica Cardone, Vinicia Assunta Polito, Stefano Pepe, Linda Mann, Alessandra D'Azzo, Alberto Auricchio, Andrea Ballabio, Maria Pia Cosma
Journal: Molecular Therapy (2006)

Mucopolysaccharidosis type II (MPSII; Hunter syndrome) is a lysosomal storage disorder caused by a deficiency in the enzyme iduronate 2-sulfatase. At present, the therapeutic approaches for MPSII are enzyme replacement therapy and bone marrow transplantation, although these therapies have some limitations. The availability of new AAV serotypes that display tissue-specific tropism and promote sustained expression of transgenes offers the possibility of AAV-mediated gene therapy for the systemic treatment of lysosomal diseases, including MPSII.
Reply
Authors: D. Taggart, K. Davidson, C Gray, A Faichney
Journal: Thorax (1988)

160 results in low serum testosterone concentrations,' and while severely hypoxic patients are unlikely to have undergone surgery it is nevertheless important to establish that the findings of Mr Taggart and colleagues cannot be attributable to this factor.From the point of view of follow up of apparently cured patients to detect metastasis, the post- operative reduction of lung function, the further diminution with passage oftime, and indeed the mere aging ofthe patient are all factors that would make the interpretation of such measurements of serum testosterone extremely difficult.
NEMALINE MYOPATHY
Journal: JAMA (1964)

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
Function and Ultrastructure of Transfused, Surviving Human Platelets in Patients with Thrombocytopenic Complicating Disease
Journal: JAMA (1963)

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 Journals 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
Computers and Clinicians
Journal: JAMA (1966)

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
A VISITOR'S OBSERVATIONS.
Journal: JAMA (1901)

In the November issue of the<i>Practitioner</i>its editor, Dr. Malcolm Morris, records some of the impressions he received during his recent visit to this country as the Lane lecturer at the Cooper Medical College in San Francisco. He says some pleasant things about the earnestness he observed in the medical schools visited, especially mentioning the Cooper Medical College, the medical department of the University of California, the Johns Hopkins, and the colleges of Philadelphia and New York. He says: "A European observer feels that Professor Osler's dream that at the end of this century ardent Old World students may go to the other side 'as o'er a brook,' seeking inspiration from great masters, may easily be fulfilled." He goes on to state that even at present they might do worse than go to the places mentioned, "for at all of them post-graduate instruction is to be had, which for
IS WATER CHLORINATION EFFECTIVE AGAINST ALL WATER-BORNE DISEASE?
Journal: JAMA (1922)

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 SANITARY MODE OF OATH ADINISTRATION IN THE COURTS.
Journal: JAMA (1893)

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
Abstract SY25-03: Germline MHC-I and -II variation constrains the somatic mutational landscape
Authors: Rachel Marty
Journal: Cancer Research (2019)

Abstract Tumors arise when cells accumulate genomic alterations that allow them to sustain rapid growth. Since the immune system is capable of eliminating tumor cells, another prerequisite for tumor formation is evasion of immune recognition. Recently, therapies that reactivate the immune system have been able to eliminate some tumors. However, only a small fraction of patients receives a sustained benefit from these immunotherapies, suggesting that we have yet to understand the complexity of tumor-immune interactions. The immune response to tumors is mediated by the major histocompatibility complex (MHC), one of the most variable molecules encoded by the human genome. The MHC communicates cellular health to the immune system by binding and presenting antigen to circulating T cells. Due to technical limitations, the impact of the inter-patient MHC heterogeneity on tumor development has remained understudied. To address this gap, we utilized a large phenotypically-annotated cohort of cancer patient and recent algorithmic advances to assess the role of MHC variation on tumor progression. Though there are two classes of MHC with different functional mechanisms, we found that germline variation in both classes impacts patient somatic mutation susceptibility and population somatic mutation frequencies. The methods we developed expose the role of the immune system in shaping tumor formation and lay the foundation for improved development of immunotherapies. Citation Format: Rachel Marty. Germline MHC-I and -II variation constrains the somatic mutational landscape [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr SY25-03.
Erratum: The microRNA miR-31 inhibits CD8+ T cell function in chronic viral infection
Authors: Howell F Moffett, Adam N R Cartwright, Hye-Jung Kim, Jernej Godec, Jason Pyrdol, Tarmo Äijö, Gustavo J Martinez, Anjana Rao, Jun Lu, Todd R Golub, Harvey Cantor, Arlene H Sharpe, Carl D Novina, Kai W Wucherpfennig
Journal: Nature Immunology (2017)
Transactions of the American Climatological Association.
Journal: JAMA (1892)

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