tbuckley/cabot-search huggingface dataset:
Summative assessment in general practice
Authors: L M Campbell, J R M Lough, T S Murray
Journal: BMJ (1996)

<h3>Background</h3> Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain malformation, oculomotor apraxia, breathing abnormalities and developmental delay. JBTS is genetically heterogeneous, involving genes required for formation and function of non-motile cilia. Here we investigate the genetic basis of JBTS in 12 French–Canadian (FC) individuals. <h3>Methods and results</h3> Exome sequencing in all subjects showed that six of them carried rare compound heterozygous mutations in <i>CC2D2A</i> or <i>C5ORF42</i>, known JBTS genes. In addition, three individuals (two families) were compound heterozygous for the same rare mutations in <i>TMEM231</i>(c.12T&gt;A[p.Tyr4*]; c.625G&gt;A[p.Asp209Asn]). All three subjects showed a severe neurological phenotype and variable presence of polydactyly, retinopathy and renal cysts. These mutations were not detected among 385 FC controls. TMEM231 has been previously shown to localise to the ciliary transition zone, and to interact with several JBTS gene products in a complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. siRNA knockdown of TMEM231 was also shown to affect barrier integrity, resulting in a reduction of cilia formation and ciliary localisation of signalling receptors. <h3>Conclusions</h3> Our data suggest that mutations in <i>TMEM231</i> cause JBTS, reinforcing the relationship between this condition and the disruption of the barrier at the ciliary transition zone.
<i>Notes from the Field:</i>Expanded Chemoprophylaxis Offered in Response to a Case of Meningococcal Meningitis in an Elementary School — Indiana, 2015
Authors: Deborah A. McMahan, Erika D. Pitcher, Mindy R. Waldron, Amanda S. Billman, Shawn M. Richards, Pamela R. Pontones, Joan M. Duwve
Journal: MMWR Morbidity and Mortality Weekly Report (2016)

On December 11, 2015, the Fort Wayne-Allen County (Indiana) Department of Health was notified by a local hospital laboratory of a suspected case of meningococcal meningitis based on Gram stain results of cerebrospinal fluid. The county health department interviewed close family members and friends of the patient to establish an infectious period, timeline of events, and possible exposures. Close medical and household contacts were offered chemoprophylaxis (1). This case was associated with an elementary school. The patient had intermittent, close, potentially face-to-face contact with many students, and was reported to have had a persistent, productive cough throughout the exposure period. In light of these unusual circumstances, and the fact that elementary school-aged children are not routinely vaccinated against meningococcal disease,* local and state health officials, with CDC support, decided to offer chemoprophylaxis to the patient's contacts. A total of 581 child and adult contacts were identified.
Abstract IA19: Towards the next clinical option: Experience from a precision cancer medicine trial
Authors: Mark A. Rubin
Journal: Cancer Research (2015)

Abstract Understanding molecular mechanisms of response and resistance to anticancer therapies requires prospective patient follow-up and clinical and functional validation of both common and low frequency mutations. We describe an evidence-based precision medicine program designed to bring whole exome sequencing (WES) into clinical practice and illustrate how this can be utilized to identify novel predictive biomarkers associated with exceptional systemic response. Metastatic and treatment-resistant cancer patients are prospectively enrolled for paired metastatic tumor and normal WES. Using a comprehensive computational pipeline, point mutations, indels and copy number alterations are detected. Mutations are categorized as Category I-III based on actionability and a report is generated and discussed in tumor board. Patients are followed prospectively for correlation of molecular information with clinical response and patient outcomes. A rapid response functional team follows on key findings to expand actionability based on the WES results. In the first year, 154 tumor-normal pairs from 97 patients were sequenced, with an average coverage of 95X of over 21,000 genes and 16 somatic alterations detected on average per patient. In total, 16 mutations were Category I, 98 were Category II, and 1474 were Category III. Tumor purity ranged from 14 to near 100%. Among unexpected findings, a prostate cancer exceptional responder was identified that harbored a somatic hemizygous deletion of the DNA repair gene FANCA and likely loss of function of the second allele through germline missense variant. Follow-up experiments established that loss of FANCA function was associated with platinum hypersensitivity both in vitro and in patient-derived xenografts, thus providing biologic rationale and functional evidence for his extreme clinical response. The establishment of a clinical program for whole exome sequencing of metastatic tumors with prospective follow-up of patients can help identify candidate predictive biomarkers of response. Citation Format: Mark A. Rubin. Towards the next clinical option: Experience from a precision cancer medicine trial. [abstract]. In: Proceedings of the AACR Special Conference on Translation of the Cancer Genome; Feb 7-9, 2015; San Francisco, CA. Philadelphia (PA): AACR; Cancer Res 2015;75(22 Suppl 1):Abstract nr IA19.
Abstract PR04: Intravital microscopy of prostate cancer lesions in bone: Kinetics of osteolysis and therapy response
Authors: Eleonora Dondossola, Stephanie Alexander, Steve Alexander, Boris Holzapfel, Christopher Logothetis, Dietmar Hutmacher, Peter Friedl
Journal: Cancer Research (2016)

Abstract Bone metastases are the initial site of progression and account for many of the complications experienced by men with metastatic prostate cancer (PCa), including therapy resistance. Besides cell intrinsic mechanisms, the interaction between PCa cells and the bone microenvironment critically contributes to lesion expansion and drug sensitivity. We here developed a mouse model amenable to intravital multiphoton microscopy (iMPM) to longitudinally study PCa-stromal cell interactions and therapy response in a partially humanized neobone, established in the dermis of the mouse. Tissue engineered bone constructs, TEBCs, were generated by functionalizing polymeric polycaprolactone scaffolds with human mesenchymal stem cells (hMSCs) differentiated to osteoblasts followed by cell-derived calcification of the inter-scaffold space. 30 days after implantation of functionalized scaffolds under the skin of the mouse, bone and bone marrow maturation resulted in a 30mm3 cavity surrounded by optically transparent cortical bone of 50-60 μm thickness, as monitored by microCT and iMPM. Intra-bone tumor growth and osteolysis caused by human fluorescent PCa cells (PC3) were three-dimensionally reconstructed by multi-parameter detection through a body window, including collagen and bone matrix (SHG), calcified bone (fluorescent bisphosphonates), osteoclasts (cathepsin K), bone surface (THG), blood vessels and stromal phagocytes (fluorescent dextran), and PC3 cells (nuclear H2B/eGFP, cytoplasmatic DsRed2). As a proof of concept, the efficacy to halt bone remodeling during bisphosphonate therapy was detected, revealing the composition and kinetics of the bone-tumor interface, including oscillating bone loss followed by neo-apposition. Thus, combining engineered neobone with an optical window is suited to detail the 3D organization and dynamics of cancer lesions in bone and provides mechanistic insight and efficacy predictions for therapy response. Citation Format: Eleonora Dondossola, Stephanie Alexander, Steve Alexander, Boris Holzapfel, Christopher Logothetis, Dietmar Hutmacher, Peter Friedl. Intravital microscopy of prostate cancer lesions in bone: Kinetics of osteolysis and therapy response. [abstract]. In: Proceedings of the AACR Special Conference on Tumor Metastasis; 2015 Nov 30-Dec 3; Austin, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(7 Suppl):Abstract nr PR04.
Predictive Factors of Survival for Patients with Bladder Cancer (Bc) in Phase I Clinical Trials
Authors: V. Michalarea, S. Rafii, R. Kumar, K. Rihawi, H.N. Toloui, R. Huddart, S.B. Kaye, U. Banerji, J.S. de Bono, L.R. Molife
Journal: Annals of Oncology (2014)
Cerebral Vasodilators
Authors: Jan Koch-Weser, Peter Cook, Ian James
Journal: New England Journal of Medicine (1981)

MANY drugs described as cerebral vasodilators have been in use for over 20 years. Most were originally developed as peripheral vasodilators and were then used to improve cerebral blood flow in patients with cerebrovascular disease or dementia. These disorders were assumed to be due to progressive cerebral arteriosclerosis and ischemia, and it was logical to suppose that effective cerebral vasodilators would be of clinical value.Unfortunately, this basic assumption has been shown to be incorrect. Dementia is not primarily due to cerebral ischemia. Previous reviews have criticized the use of these drugs, for this and other reasons.1 2 3 Cerebral blood flow . . .
Tc-99m HMPAO and Tl-201 uptake patterns in a malignant undifferentiated orbital neoplasm.
Authors: HATICE DURAK, ISMET DURAK, GAMZE CAPA KAYA, BERNA DEGIRMENCI, EMEL ADA, AYDANUR KARGI
Journal: Clinical Nuclear Medicine (2001)

DURAK, HATICE M.D.; DURAK, ISMET M.D.; ÇAPA KAYA, GAMZE M.D.; DEĞIRMENCI, BERNA M.D.; ADA, EMEL M.D.; KARGI, AYDANUR M.D. Author Information
Case 58-1964
Authors: Earle M. Chapman, Benjamin Castleman
Journal: New England Journal of Medicine (1964)

Presentation of CaseA seventy-three-year-old man entered the hospital because of vomiting and diarrhea.He had been well until three weeks previously, when a headache, vomiting, a cough productive of sputum and fever developed after strenuous physical exertion. Demethylchlortetracycline (Declomycin) was given. The temperature returned to normal but rose again one week later, and the demethylchlortetracycline therapy was resumed. The headache and vomiting recurred, accompanied by diarrhea. The patient was confused for several days before entry. He lost an unknown amount of weight during the three-week period.There was no history of diabetes, rheumatic fever, hypertension or arthritis.Physical examination . . .
Identification of borderline personality disorder with the NIMH Diagnostic Interview Schedule
Authors: M S Swartz, D G Blazer, L K George, I Winfield, J Zakris, E Dye
Journal: American Journal of Psychiatry (1989)

No lay-administered interviews are currently available to identify persons with borderline personality disorder. The authors studied 79 subjects with the NIMH Diagnostic Interview Schedule (DIS), a lay-administered interview, and the Diagnostic Interview for Borderline Patients (DIB) and used the results to construct a DIS-based diagnostic index to identify borderline personality disorder. Using the clinician-administered DIB as the diagnostic standard, the authors found that the DIS borderline index had a sensitivity of 85.7%, a specificity of 86.2%, and a kappa of 0.67. The DIS borderline index is a promising extension of the DIS that will facilitate studies of borderline personality disorder in clinical and community settings.
Other pulmonary applications
Authors: M. J. O’Doherty
Journal: Clinical Nuclear Medicine (1998)

Airway diseases are a major cause of morbidity and mortality in the UK, accounting for a large number of visits of patients to the primary care physicians. The variety of diseases include pulmonary inflammation and infection, as well as lung cancer, the most common cancer in men. The lung presents a huge exposed surface to the air allowing the entrance of a variety of particulate matter onto the epithelial surfaces. These particulate substances encompass a range of pathogens (e.g. bacteria, viruses, fungi, etc.) as well as particulate matter, which may promote an antigenic response (e.g. pollens, house dust, mite, etc.), particles that are potentially carcinogenic as in cigarette smoke, or fibres such as asbestos producing other responses in the pleura.
Cognitive Behavioral Therapy for Patients with Social Anxiety Disorder Who Remain Symptomatic following Antidepressant Treatment: A Randomized, Assessor-Blinded, Controlled Trial
Authors: Naoki Yoshinaga, Satoshi Matsuki, Tomihisa Niitsu, Yasunori Sato, Mari Tanaka, Hanae Ibuki, Rieko Takanashi, Keiko Ohshiro, Fumiyo Ohshima, Kenichi Asano, Osamu Kobori, Kensuke Yoshimura, Yoshiyuki Hirano, Kyoko Sawaguchi, Masaya Koshizaka, Hideki Hanaoka, Akiko Nakagawa, Michiko Nakazato, Masaomi Iyo, Eiji Shimizu
Journal: Psychotherapy and Psychosomatics (2016)

&lt;b&gt;&lt;i&gt;Background:&lt;/i&gt;&lt;/b&gt; Although antidepressants are still a commonly used treatment for social anxiety disorder (SAD), a significant proportion of patients fail to remit following antidepressants. However, no standard approach has been established for managing such patients. This study aimed to examine the effectiveness of cognitive behavioral therapy (CBT) as an adjunct to usual care (UC) compared with UC alone in SAD patients who remain symptomatic following antidepressant treatment. &lt;b&gt;&lt;i&gt;Methods:&lt;/i&gt;&lt;/b&gt; This was a prospective randomized open-blinded end-point study with two parallel groups (CBT + UC, and UC alone, both for 16 weeks) conducted from June 2012 to March 2014. SAD patients who remain symptomatic following antidepressant treatment were recruited, and a total sample size of 42 was set based on pilot results. &lt;b&gt;&lt;i&gt;Results:&lt;/i&gt;&lt;/b&gt; Patients were randomly allocated to CBT + UC (n = 21) or UC alone (n = 21). After 16 weeks, adjusted mean reduction in the Liebowitz Social Anxiety Scale from baseline for CBT + UC and UC alone was −40.87 and 0.68, respectively; the between-group difference was −41.55 (−53.68 to −29.42, p &lt; 0.0001). Response rates were 85.7 and 10.0% for CBT + UC and UC alone, respectively (p &lt; 0.0001). The corresponding remission rates were 47.6 and 0.0%, respectively (p = 0.0005). Significant differences were also found in favor of CBT + UC for social anxiety symptoms, depressive symptoms, and functional impairment. &lt;b&gt;&lt;i&gt;Conclusions:&lt;/i&gt;&lt;/b&gt; Our results suggest that in SAD patients who have been ineffectively treated with antidepressants, CBT is an effective treatment adjunct to UC over 16 weeks in reducing social anxiety and related symptoms.
SOCIETY FOR THE PREVENTION OF VENEREAL DISEASE
Authors: W. de Broke, R. Kipling, H. Elliot, E. R. Lankester, L. Hill, L. R. Philipps, Wm. A. Lane, J. Crichton-Browne, H. B. Donkin, F. Lloyd, R. A. Lyster, J. MacAlister, F. W. Mott, W. Osler, C. W. Saleeby, J. H. Sequeira, H. Rolleston, H. W. Bayly
Journal: BMJ (1919)
Suramin for prostate carcinoma.
Authors: S J Harland
Journal: Journal of Clinical Oncology (1992)

Article Tools Article Tools OPTIONS & TOOLS Export Citation Track Citation Add To Favorites Rights & Permissions COMPANION ARTICLES No companion articles ARTICLE CITATION DOI: 10.1200/JCO.1992.10.12.1985 Journal of Clinical Oncology - published online before print September 21, 2016 PMID: 1280675 Suramin for prostate carcinoma. S J HarlandxS J HarlandSearch for articles by this author https://doi.org/10.1200/JCO.1992.10.12.1985 PDF "Suramin for prostate carcinoma.." Journal of Clinical Oncology, 10(12), pp. 1985–1986© 1992 by American Society of Clinical Oncology
Letter to the editor: Rabid puppy-dog imported into the Netherlands from Morocco via Spain, February 2012
Authors: P Santa-Olalla Peralta, J M Mayoral Cortés, M J Sierra-Moros
Journal: Eurosurveillance (2012)

Preview this article: Letter to the editor: Rabid puppy-dog imported into the Netherlands from Morocco via Spain, February 2012, Page 1 of 1 < Previous page | Next page > /docserver/preview/fulltext/eurosurveillance/17/12/art20123-en-1.gif
Advances in Neurology
Authors: Sid Gilman
Journal: New England Journal of Medicine (1992)

EpilepsyClinical ManifestationsThe term "epilepsy" refers to conditions that are characterized by recurrent epileptic seizures. Seizures consist of paroxysmal spells of transitory alteration in consciousness or in other cerebral cortical functions and may result from episodic neurologic, psychiatric, or cardiovascular dysfunction. Epileptic seizures result from paroxysmal and abnormally synchronous discharges of cerebral cortical neurons that are induced by systemic or neurologic disturbances. Epileptic seizures are symptoms that can result from many different diseases. A single seizure is not sufficient to warrant a diagnosis of epilepsy, because many people who have a single seizure never have another.103 , 104 Approximately 0.5 to . . .
Measles outbreak in the Provence - Alpes - Côte d’Azur region, France, January - July 2003
Authors: C Six, F Franke, K Mantey, C Zandotti, F Freymuth, F Wild, I Parent du Châtelet, P Malfait
Journal: Eurosurveillance (2005)

At the end of May 2003, the Marseilles Hospital Centre's virology laboratory informed the French public heath institute of 5 cases of confirmed measles among young adults living in Marseilles. An investigation was conducted, consulting different community and hospital health services, to determine the virus circulation in the Provence-Alpes-Côte d'Azur (PACA) region by the southern interregional epidemiological cell. The investigation identified 259 cases: 183 clinical, 74 serologically confirmed and 2 epidemiologically linked cases. The first cases were identified during the first six months of 2003, with a peak in April. This outbreak of measles in the PACA region was favoured by poor vaccination coverage, which created groups of susceptible population. The real number of cases was probably higher than the number identified. This investigation has outlined the limitations of the measles surveillance system in France: the sentinel network had not detected any case for this period. France needs to reach the WHO objective of measles elimination by 2010 and the surveillance tools used must be those already used in the most countries that are furthest advanced in the elimination process. To reach this goal, the Direction Générale de la Santé has nominated a working group to be in charge of proposing a national plan to interrupt indigenous measles transmission in France.
Benzodiazepines
Authors: David J. Greenblatt, Richard I. Shader
Journal: New England Journal of Medicine (1974)

Treatment of AnxietyNeurotic anxiety is by far the most common indication for benzodiazepines. In a three-month period, approximately one in 10 American adults will take diazepam because of tension or nervousness. Symptomatic anxiety is extremely common among the adult population, but whether it is severe or prevalent enough to justify this extent of pharmacotherapy is questionable.Anxiety is an elusive clinical syndrome. It describes a psychophysiologic response resembling fear but inappropriate to the reality of the perceived threat. Manifestations can include psychic symptoms (irritability, tension, excessive worry, and inappropriate apprehension), somatic symptoms (palpitations, breathlessness, diaphoresis, tremor, urinary frequency, fatigue, . . .
Narcotic Usage
Authors: David C. Lewis, Norman E. Zinberg
Journal: New England Journal of Medicine (1964)

A RECURRENT problem for many practicing physicians is how to use effectively one of their most powerful pharmacologic tools, narcotic drugs. They tend to dread patients who demand large or continuous doses of narcotics, particularly when the behavior of such patients raises the question of addiction. This concern is understandable in the light of usual medical-school training and the popular view of addicts. Medical-school training describes the addict as invariably increasing his demand for the drug, with the development of a painful syndrome of sweating, nausea, vomiting and diarrhea when the drug is unavailable, and requiring hospitalization to be treated. . . .
Abstract P3-07-21: Non-alcoholic fatty liver disease induced by selective estrogen receptor modulators is a protective factor for breast cancer survival
Authors: S Wang, Q Zheng, M Nie, F Xu, W Xia, Z Yuan, R Peng, X An, T Qin, G Qin
Journal: Cancer Research (2016)

Abstract Purpose: Non-alcoholic fatty liver disease (NAFLD) induced by selective estrogen receptor modulators (SERMs) treatment may be related to treatment efficacy for the antagonism of circulating estrogens. We conducted a retrospective study to investigate the relationship between survival outcomes and NAFLD in breast cancer patients treated with tamoxifen or toremifene. Patients and methods: 785 eligible patients received tamoxifen or toremifene in Sun Yat-sen university cancer center from January 2005 to December 2009 were included in our study. All patients have at less one abdominal ultrasonography measurement at baseline and every year's follow-up. Patients who diagnosed NAFLD by ultrasonography during three-year's follow-up were classified into NAFLD cohort, others were classified into no-NAFLD cohort. Univariate and multivariate Cox regression was utilized to analyse the relationship between NAFLD and disease-free survival (DFS) and overall survival (OS). Results:158 patients had reported NAFLD in the first 3 years' follow-up. Patients who developed NAFLD had better DFS and OS than those not developing NAFLD. The 5-years DFS was 91.56% and 85.01% at NAFLD and no-NAFLD cohort (univariate hazard ratio [HR]: 0.59 [95%CI 0.37-0.96], P=0.034), respectively. The 5-years OS was 96.64% and 93.31% at NAFLD and no-NAFLD cohort (univariate HR: 0.39 [95%CI 0.16-0.99], P=0.047), respectively. Multivariate analysis revealed that NAFLD is an independent prognostic factor on DFS in breast cancer patients with SERMs treated. Women treated with SERMs experienced NAFLD in the first three-year's follow-up had a reduced risk of DFS of 42% (multivariate HR: 0.58; [95%CI 0.36-0.95], P=0.032) compared with patients without NAFLD. Conclusion: NAFLD induced by SERMs seems to be associated with better survival outcomes and may therefore be helpful in predicting treatment responses in breast cancer patients treated with SERMs. Citation Format: Wang S, Zheng Q, Nie M, Xu F, Xia W, Yuan Z, Peng R, An X, Qin T, Qin G. Non-alcoholic fatty liver disease induced by selective estrogen receptor modulators is a protective factor for breast cancer survival. [abstract]. In: Proceedings of the Thirty-Eighth Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2015 Dec 8-12; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2016;76(4 Suppl):Abstract nr P3-07-21.
Relapsing Fever
Authors: J A Newton, P V Pepper
Journal: New England Journal of Medicine (1996)

Figure 1. A 41-year-old woman presented with a four-week history of recurring fever (temperature, 40.5°C), headache, and diffuse myalgias. She was one of three family members in whom relapsing fever developed after they vacationed in a rustic, rodent-infested cabin in northeast Washington State. A Wright's-stained peripheral-blood smear contains two borrelia spirochetes (arrows). The patient was treated with 100 mg of doxycycline orally twice a day and had no further symptoms.
Gonococcal Arthritis
Authors: Gregory Magee
Journal: JAMA (1975)

<h3>To the Editor.—</h3> A short time ago, a 14-year-old girl was admitted to my service with a swollen, tender left thumb and loss of movement around the interphalangeal joint. She had been seen previously at another hospital for migratory polyarthritis involving her right wrist and both her ankles, as well as the left thumb. After a tenday hospital course, she was discharged with a diagnosis of possible juvenile rheumatoid arthritis. Treatment consisted of aspirin and a mixture of magnesium hydroxide and aluminum hydroxide gel (Maalox). Three weeks later, the patient returned with the chief complaint just noted. X-ray films showed a severe degenerative process involving her left thumb, specifically the distal portion of the proximal phalangeal bone and the proximal portion of the distal phalangeal bone, consistent with a septic joint. These changes were not present on x-ray films obtained from the hospital where she was seen initially. On the