tbuckley/cabot-search huggingface dataset:
Clinical and Functional Characterization of TNNT2 Mutations Identified in Patients with Dilated Cardiomyopathy
Authors: Ray Hershberger, Jose Pinto, Sharie Parks, Jessica Kushner, Duanxiang Li, Susan Ludwigsen, Jason Cowan, Ana Morales, Michelle Parvatiyar, James Potter
Journal: Circulation (2009)

Background— A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically important as genetic DCM, usually presenting with advanced, life-threatening disease, may be preventable with early intervention in relatives known to carry the mutation.

Methods and Results— We recently undertook bidirectional resequencing of TNNT2 , the cardiac troponin T gene, in 313 probands with DCM. We identified 6 TNNT2 protein-altering variants in 9 probands, all who had early onset, aggressive disease. Additional family members of mutation carriers were then studied when available. Four of the 9 probands had DCM without a family history, and 5 probands had familial DCM. Only 1 mutation (Lys210del) could be attributed as definitively causative from previous reports. Four of the 5 missense mutations were novel (Arg134Gly, Arg151Cys, Arg159Gln, and Arg205Trp), and one was previously reported with hypertrophic cardiomyopathy (Glu244Asp). Based on the clinical, pedigree, and molecular genetic data, these 5 mutations were considered possibly or likely disease causing. To further clarify their potential pathophysiologic impact, we undertook functional studies of these mutations in cardiac myocytes reconstituted with mutant troponin T proteins. We observed decreased Ca2+ sensitivity of force development, a hallmark of DCM, in support of the conclusion that these mutations are disease causing.

Conclusions— We conclude that the combination of clinical, pedigree, molecular genetic, and functional data strengthen the interpretation of TNNT2 mutations in DCM.

Received January 2, 2009; accepted April 20, 2009. 

# CLINICAL PERSPECTIVE {#article-title-2}
Allogeneic Stem Cell Transplantation In Chronic Myeloid Leukemia In TKIs Era
Authors: Parvez Ahmed, Syed Karman Mahmood, Tariq Mahmood Satti, Qamar Un Nisa Chaudhry, Nighat Shahbaz, Mehreen Ali Khan, Humayoon Shafique Satti
Journal: Blood (2013)
Cisplatin and fluorouracil with or without sodium diethyldithiocarbamate rescue.
Authors: D R Gandara, E A Perez, M W DeGregorio, R Borch
Journal: Journal of Clinical Oncology (1988)

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.1988.6.11.1785 Journal of Clinical Oncology - published online before print September 22, 2016 PMID: 2846792 Cisplatin and fluorouracil with or without sodium diethyldithiocarbamate rescue. D R GandaraxD R GandaraSearch for articles by this author , E A PerezxE A PerezSearch for articles by this author , M W DeGregorioxM W DeGregorioSearch for articles by this author , R BorchxR BorchSearch for articles by this author https://doi.org/10.1200/JCO.1988.6.11.1785 First Page PDF © 1988 by American Society of Clinical Oncology
Vitamin D levels and atopic eczema in infancy and early childhood in Norway: a cohort study
Authors: T.L. Berents, K.C. Lødrup Carlsen, P. Mowinckel, L. Sandvik, H.O. Skjerven, L.B. Rolfsjord, B. Kvenshagen, J.O.G. Hunderi, M. Bradley, A. Lieden, K.‐H. Carlsen, P.M. Thorsby, P. Gjersvik
Journal: British Journal of Dermatology (2016)

Epidemiological data and the effect of sun exposure on atopic eczema (AE) suggest that vitamin D (vitD) may be involved in the pathogenesis.To investigate if vitD levels were associated with the presence or severity of AE in the first 2 years of life in children living in south-east Norway.Infants, recruited to a clinical trial on acute bronchiolitis (n = 404) and from the general population (n = 240), were examined at 1-13 months (first visit) and at 2 years of age (second visit). Caregivers were interviewed using a structured questionnaire. AE was diagnosed clinically, based on well-established criteria. Disease severity was assessed using the SCORing Atopic Dermatitis index. Blood samples were taken for vitD measurements, using liquid chromatography-tandem mass spectrometry and for common filaggrin mutation analyses. Complete data on AE and vitD were available in 596 and 449 children at the first and second visit, respectively.Atopic eczema was diagnosed in 67 children (11%) at the first visit and in 103 children (23%) at the second. Mean vitD levels were 58·2 nmol L(-1) at the first visit and 66·9 nmol L(-1) at the second. Using vitD level tertiles in multivariate regression analysis, there was no association between vitD levels and AE at either visit, regardless of filaggrin mutation. In children without AE at the first visit, vitD levels did not predict AE at the second.In this cohort of young children in Norway, we found no association between vitD levels and the presence or severity of AE.
Antitumor Activity of a <italic>Streptococcus pyogenes</italic> Preparation (OK-432). II. Analysis of the Cytotoxic Lymphocytes Induced by OK-432 Injection Into Tumor-Bearing F344 Rats<xref ref-type="fn" rid="FN2">2</xref><xref ref-type="fn" rid="FN3">3</xref>
Authors: H Fukui, C W Reynolds
Journal: JNCI Journal of the National Cancer Institute (1987)

In the present study, the antigenic phenotype and target cell specificity of the cytotoxic lymphocytes observed in F344 rats following the ip inoculation of a syngeneic MADB106 mammary carcinoma and the single injection of OK-432 were examined. When the cytotoxicity of peritoneal exudate cells (PECs) was measured in a 4-hour 51Cr release assay, appreciable cytotoxicity against MADB106 tumor cells was evident by day 7–14 following OK-432 injection. With the use of an antibody (R1-3B3) and complement depletion of cytotoxic PECs, the MADB106 killer cells appeared to consist of both R1-3B3− (non-T) and R1-3B3+ (T) cells, with most of the anti-MADB106 killing residing in the R1-3B3− cell population. The R1-3B3− killer cells were further defined as: a) phenotypically asialoGM1+, b) present in athymic nude rats, and c) accompanied by some augmentation of YAC-1 killing [the prototype rat natural killer (NK) target], suggesting that some of these R1-3B3− killer cells were typical NK cells. However, it was also observed that most of the R1-3B3− cells that killed MADB106 tumor cells were: 1) phenotypically or functionally different from either cytotoxic T-cells or typical NK cells; 2) observed only in MADB106 tumor-bearing rats challenged with OK-432; 3) not present on day 1–2 following OK-432 injection, the time when YAC-1 killing was maximally augmented; and 4) present in high numbers in a secondary response following reinoculation of the MADB106 tumor cells into cured rats. The in vivo relevance and possible derivation of these various cytotoxic lymphocyte populations in the syngeneic tumor-bearing hosts are discussed.
Transforming Growth Factor β Induces Vascular Endothelial Growth Factor Elaboration from Pleural Mesothelial Cells<i>in Vivo</i>and<i>in Vitro</i>
Authors: Y. C. GARY LEE, DEE MELKERNEKER, PHILIP J. THOMPSON, RICHARD W. LIGHT, KIRK B. LANE
Journal: American Journal of Respiratory and Critical Care Medicine (2002)

Vascular endothelial growth factor (VEGF) increases vascular permeability and is important in pleural effusion formation. In studies using transforming growth factor β (TGF- β ) to produce pleurodesis, we observed that although TGF- β was more effective than talc or doxycycline, it induced transient production of large pleural effusions. We hypothesized that TGF- β stimulates VEGF production in pleural tissues in vivo, and by mesothelial cells in vitro. New Zealand White rabbits (n = 33) were given TGF- β2 (1.7 or 5.0 μ g), talc (400 mg/kg), doxycycline (10 mg/kg), or buffer intrapleurally. Pleural fluid was collected at 24 h. Intrapleural injection of TGF- β2 induced a dose-dependent increase in VEGF production. The pleural fluid VEGF level was 2-fold higher in rabbits given 5.0 μ g of TGF- β2 than in those given 1.7 μ g of TGF- β2 and 3-fold higher than in those given buffer. VEGF levels were higher after the injection of TGF- β2 than after administration of talc or doxycycline. The pleural fluid VEGF correlated significantly with the volume of pleural effusions (r = 0.79, p < 0.00001). In vitro, TGF- β2 stimulated a dose-dependent increase in VEGF production from murine pleural mesothelial cells. At 4 and 24 h, TGF- β2, but not talc or doxycycline, induced a significant increase in VEGF, when compared with controls. The mesothelial cell VEGF production was significantly reduced by anti-TGF- β antibody in the TGF- β2, talc, and control (buffer and medium) groups. In conclusion, mesothelial cells are an important source of VEGF. TGF- β increases the VEGF production by mesothelial cells in vivo and in vitro.
Lecture Notes on Neurology.
Journal: Annals of Internal Medicine (1975)

1 Neurological history taking 2 Consciousness3 Cognitive function4 Vision and other cranial nerves 5 Motor function 6 Sensation7 Autonomic function8 Investigating the patient9 Headache and facial pain10 Epilepsy11 Stroke12 Parkinson's disease and other movement disorders13 Neurosurgical topics: head injury and brain tumour14 Neurological infections 15 Spinal conditions 16 Multiple sclerosis17 Nerve and muscle18 Development and degeneration19 Neurology and other medical specialities20 Neurological emergencies 21 Neurorehabilitation
Involving Parents in Pediatric Patients’ Decisions About Long-Acting Reversible Contraception
Authors: Andrea J. Hoopes, Gina S. Sucato, Douglas S. Diekema
Journal: JAMA Pediatrics (2016)

This Viewpoint discusses the development of strategies to encourage dialogues between adolescent patients, parents, and health care professionals about sexual and reproductive health preventive services, including long-acting reversible contraception.
Differential Growth of Malignant and Nonmalignant Tissues in Rats Bearing Hepatoma 31. Influence of Dietary Protein, Riboflavin, and Biotin&lt;xref ref-type="fn" rid="fn1"&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/xref&gt;
Authors: Carl Voegtlin, J. W. Thompson
Journal: JNCI Journal of the National Cancer Institute (1949)

Journal Article Differential Growth of Malignant and Nonmalignant Tissues in Rats Bearing Hepatoma 31. Influence of Dietary Protein, Riboflavin, and Biotin Get access Carl Voegtlin, Carl Voegtlin University of Rochester School of Medicine and Dentistry, Rochester, and National Cancer Institute, National Institutes of Health, Public Health Service, Bethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar J. W. Thompson J. W. Thompson University of Rochester School of Medicine and Dentistry, Rochester, and National Cancer Institute, National Institutes of Health, Public Health Service, Bethesda, Md. Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 10, Issue 1, August 1949, Pages 29–52, https://doi.org/10.1093/jnci/10.1.29 Published: 01 August 1949 Article history Received: 14 April 1949 Published: 01 August 1949
Mind God's mind: History, development, and teaching
Authors: Andreas Demetriou, Nikos Makris, Dimitris Pnevmatikos
Journal: Behavioral and Brain Sciences (2016)

Abstract We dispute the target article that belief in Big Gods facilitated development of large societies and suggest that the direction of causality might be inverted. We also suggest that plain theory of mind (ToM), although necessary, is not sufficient to conceive Big Gods. Grasp of other aspects of the mind is required. However, this theory is useful for the teaching of religion.
Incest reported by children and adolescents hospitalized for severe psychiatric problems
Authors: G J Emslie, A Rosenfeld
Journal: American Journal of Psychiatry (1983)

This study of 65 children and adolescents hospitalized for psychiatric problems revealed a history of incest in 37.5% of the nonpsychotic female subjects. Ten percent of the psychotic girls and about 8% of all the boys had such a history. A comparison of the nonpsychotic girls who had a history of incest and those who had no known history of incest or sexual abuse showed no specific effects of incest. It seems that social and psychological pathology serious enough to warrant hospitalization is not a simple effect of incest itself but is a consequence of severe family disorganization and the resulting ego impairment.
Misanalysis of Urinalysis
Authors: Kathryn B. Holroyd, Alexander Rittenberg, Amit Pahwa
Journal: JAMA Internal Medicine (2016)

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 Internal Medicine HomeNew OnlineCurrent IssueFor Authors Podcast 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) 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 Internal Medicine journal
Toxin Immunoassays and<i>Clostridium difficile</i>Infection
Authors: Niaz Banaei, Lee Frederick Schroeder
Journal: JAMA Internal Medicine (2016)

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 Internal Medicine HomeNew OnlineCurrent IssueFor Authors Podcast 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) 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 Internal Medicine journal
Longitudinally Extensive Spinal Cord Lesions Disclosing Occult Systemic Sarcoidosis
Authors: Elia Sechi, Alberto Addis, Rosanna Piredda, Anna Laura Rassu, GianFranco Mameli, Chiara Senes, GianPietro Sechi
Journal: JAMA Neurology (2016)

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 Neurology HomeNew OnlineCurrent IssueFor Authors Podcast 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) 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 Neurology journal
Understanding the impact of second-hand smoke exposure on clinical outcomes in participants with COPD in the SPIROMICS cohort
Authors: Nirupama Putcha, R Graham Barr, Meilan K Han, Prescott G Woodruff, Eugene R Bleecker, Richard E Kanner, Fernando J Martinez, Benjamin M Smith, Donald P Tashkin, Russell P Bowler, Mark D Eisner, Stephen I Rennard, Robert A Wise, Nadia N Hansel
Journal: Thorax (2016)

<h3>Background</h3> Second-hand smoke (SHS) exposure has been linked to the development of and morbidity from lung disease. We sought to advance understanding of the impact of SHS on health-related outcomes in individuals with COPD. <h3>Methods</h3> Among the participants with COPD in SPIROMICS, recent SHS exposure was quantified as (1) hours of reported exposure in the past week or (2) reported living with a smoker. We performed adjusted regression for SHS with outcomes, testing for interactions with gender, race, smoking and obesity. <h3>Results</h3> Of the 1580 participants with COPD, 20% reported living with a smoker and 27% reported exposure in the past week. Living with a smoker was associated with worse St George9s Respiratory Questionnaire score (SGRQ, β 3.10; 95% CI 0.99 to 5.21), COPD Assessment Test score (β 1.43; 95% CI 0.52 to 2.35) and increased risk for severe exacerbations (OR 1.51, 95% CI 1.04 to 2.17). SHS exposure in the past week was associated with worse SGRQ (β 2.52; 95% CI 0.47 to 4.58), nocturnal symptoms (OR 1.58; 95% CI 1.19 to 2.10), wheezing (OR 1.34; 95% CI 1.02 to 1.77), chronic productive cough (OR 1.77; 95% CI 1.33 to 2.35) and difficulty with cough and sputum (Ease of Cough and Sputum scale, β 0.84; 95% CI 0.42 to 1.25). SHS was associated with increased airway wall thickness on CT but not emphysema. Active smokers, obese individuals and individuals with less severe airflow obstruction also had higher susceptibility to SHS for some outcomes. <h3>Conclusion</h3> Individuals with COPD, including active smokers, have significant SHS exposure, associated with worse outcomes and airway wall thickness. Active smokers and obese individuals may have worse outcomes associated with SHS. <h3>Trial registration number</h3> NCT01969344 (clinicaltrials.gov).
Puberty and asthma in a cohort of Swedish children
Authors: Jennifer Protudjer, Cecilia Lundholm, Anna Bergström, Inger Kull, Catarina Almqvist
Journal: European Respiratory Journal (2014)

Asthma prevalence and medication use shifts from male to female predominance during the pubertal years, suggesting an involvement of sex-specific factors. We examined associations between pubertal staging and asthma and medication use in a longitudinal cohort of 4089 Swedish children born in 1994-96. At Yr8 and Yr12, asthma was based on parent reports of ≥4 episodes of wheeze, or ≥1 episode of wheeze + inhaled corticosteroid use in the previous 12 months. Pubertal incidence of asthma was defined as no asthma at Yr8, but asthma at Yr12. At Yr12, participants self-reported pubertal development, from which we developed pubertal staging categorisations (Petersen, A.C. et al. J Youth Adolesc. 1988 April;17:117-33). After excluding those with missing data on asthma and/or puberty, our sample size was 2721 (50.2% boys). As most boys (97.8%) were in pre-, early- or mid-puberty and half of girls (47.6%) were in late- or post-puberty, we created sex-specific pubertal staging categories. Using binomial logistic regression, girls had a lower odds of asthma at Yr8 (OR 0.66; 95%CI 0.47-0.92) and Yr12 (OR 0.57; 95% CI 0.42-0.78), compared to boys. In boys, pubertal staging was not statistically significantly associated with asthma or pubertal incidence of asthma. In girls, late/post puberty was inversely associated with asthma (OR 0.35; 95% CI 0.16-0.78), while the odds of pubertal incidence of asthma vs. no asthma at Yr8 or Yr12 decreased with more advanced pubertal staging (mid-puberty: OR 0.36; 95% CI 0.15-0.88; late/post puberty: OR 0.25; 95% CI 0.09-0.68). In neither sex was pubertal staging associated with asthma medication use. To conclude, puberty and asthma prevalence and incidence were inversely associated in girls only.
Absence Of Mutation In Cereblon (CRBN) and DNA Damage Binding Protein 1 (DDB1) Genes In Myeloma Cells and Patients and Its Clinical Significance
Authors: Anjan Thakurta, Anita K Gandhi, Michelle Waldman, Chad C. Bjorklund, Suzanne Lentzsch, Stephen A Schey, Yolanda Calle, Rajani Chelliah, Robert Z. Orlowski, Anup Madan, Yuhong Ning, Derek Mendy, Antonia Lopez-Girona, Peter H Schafer, Herve Avet-Loiseau, Rajesh Chopra
Journal: Blood (2013)
Colonic Disorder and Oral Contraceptives
Authors: G W Ward, J R Stevensen
Journal: New England Journal of Medicine (1968)

Case report with the postulation of a possible etiologic relation between oral contraceptive therapy and localized vascular occlusion of the transverse colon is presented.  The patient a 39-year old premenopausal woman had been in good health until 7 days before admission when she had recurrent cramping pain in the upper abdomen that was worsened by eating.  The only medication had been Ortho-Novum (norethindrone and mestranol) 2 mg cyclically for 5 months.  Barium enema examination showed a 6-cm area of irregular mucosa with thumb printing in the distal transverse colon.  All other tests were unrewarding.  The patient was treated symptomatically with anticholinergics and a brief course of tetracycline.  A follow-up barium enema 11 days later showed almost a complete clearing of the lesion.  She was advised not to take oral contraceptives and on follow-up was asymptomatic.
Abstract 10390: Simvastatin Increases Irisin Concentrations in Human Subjects in Vivo and Irisin Expression and Secretion in Human Skeletal Muscle Cells ex Vivo
Authors: Ioanna Gouni-Berthold, Heiner K Berthold, Joo Young Huh, Wilhelm Krone, Christos S Mantzoros
Journal: Circulation (2013)

Introduction: Irisin is a muscle-tissue-secreted peptide, a myokine, is induced by exercise and can convert white fat into brown fat. Little is known about the association of irisin with metabolic ...