tbuckley/cabot-search huggingface dataset:
Dominantly transmitted glomerulocystic kidney disease
Authors: C K Sharp, S M Bergman, J M Stockwin, M L Robbin, C Galliani, L M Guay-Woodford
Journal: Journal of the American Society of Nephrology (1997)

Glomerulocystic kidney disease (GCKD) is a relatively rare condition with both a sporadic and familial occurrence. Pathologically, GCKD is characterized by cystic dilatation of Bowman's space and the initial proximal convoluted tubule. As a heritable disorder, GCKD has primarily been recognized in infants with a family history of classic, autosomal dominant polycystic kidney disease (ADPKD). Dominantly transmitted GCKD associated with either hypoplastic or normal-sized kidneys has also been reported in older children and adults. A large, three-generation African-American family with familial GCKD is characterized. Of the 20 individuals available for study, seven affected individuals were identified by renal sonogram or renal histopathology. GCKD in this family segregates as an autosomal dominant trait as evidenced by its apparent transmission from a father to his sons. A set of directed linkage strategies indicates that the distinctive GCKD phenotype in this family results from a dominantly acting mutation that disrupts a genetic locus distinct from the ADPKD loci, PKD1 and PKD2, as well the human homologue of mouse jcpk mutation, a newly described murine GCKD. These analyses are the first known genetic studies conducted in a family with heritable GCKD and post-infantile age of onset.
Alpha-synuclein and tau: teammates in neurodegeneration?
Authors: Simon Moussaud, Daryl R Jones, Elisabeth L Moussaud-Lamodière, Marion Delenclos, Owen A Ross, Pamela J McLean
Journal: Molecular Neurodegeneration (2014)

The accumulation of α-synuclein aggregates is the hallmark of Parkinson’s disease, and more generally of synucleinopathies. The accumulation of tau aggregates however is classically found in the brains of patients with dementia, and this type of neuropathological feature specifically defines the tauopathies. Nevertheless, in numerous cases α-synuclein positive inclusions are also described in tauopathies and vice versa, suggesting a co-existence or crosstalk of these proteinopathies. Interestingly, α-synuclein and tau share striking common characteristics suggesting that they may work in concord. Tau and α-synuclein are both partially unfolded proteins that can form toxic oligomers and abnormal intracellular aggregates under pathological conditions. Furthermore, mutations in either are responsible for severe dominant familial neurodegeneration. Moreover, tau and α-synuclein appear to promote the fibrillization and solubility of each other in vitro and in vivo. This suggests that interactions between tau and α-synuclein form a deleterious feed-forward loop essential for the development and spreading of neurodegeneration. Here, we review the recent literature with respect to elucidating the possible links between α-synuclein and tau.
Selective reduction of T cells bearing invariant V alpha 24J alpha Q antigen receptor in patients with systemic sclerosis.
Authors: T Sumida, A Sakamoto, H Murata, Y Makino, H Takahashi, S Yoshida, K Nishioka, I Iwamoto, M Taniguchi
Journal: The Journal of Experimental Medicine (1995)

A novel subset of T cells characterized by the expression of an invariant T cell antigen receptor (TCR) encoded by V alpha 24J alpha Q gene segments was investigated in patients with systemic sclerosis (SSc). Polymerase chain reaction analysis demonstrated that the V alpha 24 TCR repertoire was selectively used in CD4-CD8- double-negative T cells both in patients and in healthy individuals, while almost all families of TCR V alpha were expressed in single-positive T cell fractions. The V alpha 24+ double-negative T cells were increased by approximately fivefold in patients. However, sequence analysis clearly showed significant differences in the V alpha 24 TCR repertoire dominating in patients and healthy donors. In healthy individuals, the invariant V alpha 24J alpha Q was expanded and comprised 20-50% of the total TCR-alpha, while their selective reduction was observed in SSc patients who also showed expansion of invariant V alpha 24 TCR other than V alpha 24J alpha Q. Analogous to murine invariant V alpha 14J alpha 281 TCR, these results suggest that T cells with invariant V alpha 24J alpha Q TCR would function as regulatory T cells, whereas T cells bearing other invariant V alpha 24 TCR in SSc patients could be autoaggressive T cells in nature.
RNA-based determination of ESR1 and HER2 expression and response to neoadjuvant chemotherapy
Authors: C. Denkert, S. Loibl, R. Kronenwett, J. Budczies, C. von Törne, V. Nekljudova, S. Darb-Esfahani, C. Solbach, B.V. Sinn, C. Petry, B.M. Müller, J. Hilfrich, G. Altmann, A. Staebler, C. Roth, B. Ataseven, T. Kirchner, M. Dietel, M. Untch, G. von Minckwitz
Journal: Annals of Oncology (2012)
S11 Inappropriate prescribing of combination inhalers in asthma in Northern Ireland (NI)
Authors: J. Sweeney, A. M. Marley, C. Patterson, L. G. Heaney
Journal: Thorax (2011)

<h3>Introduction</h3> BTS/SIGN asthma management guidelines recommend a stepwise approach to the use of anti-inflammatory therapy, including the addition of inhaled combination therapy (ICT) at Step 3. In NI, ICT accounts for 47% (£23 million) of the entire respiratory drug spend suggesting excessive utilisation of ICT. <h3>Methods</h3> Using data from a large representative sample of GP practices in NI, we looked at subjects who had a new prescription of ICT (Symbicort, Seretide, Fostair). Data were collected from the Information and Registration Unit of the Business Services Organisation for the period January to December 2010 inclusive for subjects aged 5 to 35. We examined treatment prior to ICT, SABA, oral steroid and antibiotic use and, prescription filling in the preceding 6 and 12 months. <h3>Results</h3> 42 665 subjects received 2 or more prescriptions for any respiratory drug (BNF categories 3.1, 3.2, 3.3) and of these 12 989 received ICT with 3953 new ICT prescriptions. 2642 (67%) of these had no ICS in study year or 6 month lead in period. A further analysis of a 12-month lead in period showed 39 315 subjects with 2 or more respiratory prescriptions and out of these 11 962 received ICT with 2609 new ICT prescriptions. 1359 (52%) had no ICS in the study year or 12-month lead in. A sub-group analysis (n=600) showed that 51% of first prescriptions for ICT are made in Jan–April but in the previous 6 months only 23% are issued a SABA, 5% receive OCS and 31% receive an antibiotic. <h3>Conclusion</h3> ICT is initiated in the majority of young asthmatic subjects without prior inhaled steroid therapy. Most prescriptions are initiated in the January–April period and do not appear to be driven by severe asthma exacerbation (oral steroid prescription) or worsening asthma control (SABA use). Significant reductions in ICT, with associated cost savings, would occur if the BTS/SIGN prescribing guidelines were followed in primary care. We are currently trying to identify the drivers and potential economic impact of poor adherence to national prescribing guidelines and examine ICT prescribing in other UK regions to identify if this is a more widespread problem.
Do family physicans, emergency physicians and paediatricians give consistent sport-related concussion management advice?
Authors: Jacqueline Stoller, James Carson, Laura Purcell, Bruce Davidson, Alisha Garel, Margaret Bell, Catherine Snow, Marcus Law
Journal: British Journal of Sports Medicine (2013)

Objective To identify differences and gaps in the recommendations to patients for the management of sport-related concussion among family physicians (FPs), emergency physicians (ERs) and paediatricians (Peds). Design A self-administered multiple-choice survey, which had been validated for content validity. Setting Toronto East General Hospital and Markham Stouffville Hospital, both in Ontario, Canada. Subjects 270 physicians were invited to participate; 104 surveys were completed (39%). Intervention The survey link was emailed to FPs, ERs and Peds from the above hospitals. Data were analysed using SPSS. Frequencies and percentages were calculated with cross-tabulation of data by specialty. Outcome Measures Key survey questions identified sources of concussion management information, usefulness of concussion diagnosis strategies, and whether physicians use common terminology when explaining cognitive rest strategies to patients after a sport-related concussion. Results For making a diagnosis of concussion, 54% of FPs, 86% of ERs and 78% of Peds never used the SCAT2; 49% of FPs, 57% of ERs and 36% of Peds always advised cognitive rest, the mainstay of early management for post-concussion symptoms; 65% of FPs, 71% of ERs and 55% of Peds always advised physical rest; and 49% of FPs, 52% of ERs and 27% of Peds reported no knowledge of any consensus statements on concussion in sport. Conclusions We identified large gaps in the implementation of recommendations for sport-related concussion patients. Although some physicians are recommending physical and cognitive rest, a large proportion fail to consistently advise this strategy. Better knowledge translation efforts should target all three groups of physicians. Acknowledgements Thank you to Babak Aliarzadeh for the statistical analysis. Special thanks go to Paul Krueger, Leigh Hayden and the other 18 participants in the validation of our survey. Competing interests None.
BMA rejects government proposals for longer hours for GPs
Authors: Lynn Eaton
Journal: BMJ (2008)

GPs’ leaders have found themselves fighting back over plans—stemming from 10 Downing Street—to force general practices to open for longer. The government said just before Christmas that it intended to impose a contract on GPs that could mean that practices that don’t comply will lose as much as £36 000 (€49 000; $72 000) a year.

The BMA leaders argue that the proposals don’t reflect what most patients want and that doctors will be too tired to provide a good service.

At a briefing just before Christmas, Laurence Buckman, chairman of the BMA’s General Practitioners Committee, told journalists that the government had “effectively put a gun to our head.”

He said, “We are being bullied so that the prime minister can tick …
HPV Screening for Cervical Cancer in Rural India
Authors: Rengaswamy Sankaranarayanan, Bhagwan M. Nene, Surendra S. Shastri, Kasturi Jayant, Richard Muwonge, Atul M. Budukh, Sanjay Hingmire, Sylla G. Malvi, Ranjit Thorat, Ashok Kothari, Roshan Chinoy, Rohini Kelkar, Shubhada Kane, Sangeetha Desai, Vijay R. Keskar, Raghevendra Rajeshwarkar, Nandkumar Panse, Ketayun A. Dinshaw
Journal: New England Journal of Medicine (2009)

In October 1999, we began to measure the effect of a single round of screening by testing for human papillomavirus (HPV), cytologic testing, or visual inspection of the cervix with acetic acid (VIA) on the incidence of cervical cancer and the associated rates of death in the Osmanabad district in India.
Vitamin D, Parathyroid Hormone Levels, and the Prevalence of Metabolic Syndrome in Community-Dwelling Older Adults
Authors: Jared P. Reis, Denise von Mühlen, Donna Kritz-Silverstein, Deborah L. Wingard, Elizabeth Barrett-Connor
Journal: Diabetes Care (2007)

OBJECTIVE—Accumulating research suggests low-circulating vitamin D concentrations, i.e., 25-hydroxyvitamin-D [25(OH)D], may be associated with an increased prevalence of metabolic syndrome; however, previous studies have not accounted for parathyroid hormone (PTH) levels. We examined the association of 25(OH)D and PTH with the prevalence of metabolic syndrome in a community-based cohort of older adults. RESEARCH DESIGN AND METHODS—Participants included 410 men and 660 women, 44–96 years old, who completed a follow-up clinic visit in 1997–1999 as part of the Rancho Bernardo Study. Sex-specific logistic regression models were fit to estimate the odds of ATP III (Adult Treatment Panel III)-defined metabolic syndrome across quintiles of 25(OH)D and PTH, adjusting for age, season, and major lifestyle factors. RESULTS—In men, there was a significant trend (P = 0.03) of increasing adjusted odds for metabolic syndrome with increasing PTH concentrations, primarily due to an odds ratio of 2.02 (95% CI 0.96–4.24) in men in the top quintile (≥63 ng/l) of PTH concentration. This association remained unchanged after taking into account 25(OH)D levels and excluding men with diabetes or impaired renal function; it was attenuated after adjustment for the homeostasis model assessment of insulin resistance. Neither PTH in women nor 25(OH)D levels in either sex was related to the metabolic syndrome. CONCLUSIONS—These findings suggest an increased risk of metabolic syndrome with elevated PTH levels in older men and no effect of 25(OH)D concentrations in either sex. The reason for the sex difference in the PTH–metabolic syndrome association is unknown. Prospective studies are necessary to better determine the roles of 25(OH)D and PTH in the etiology of metabolic syndrome.
Low-Dose Abdominal CT for Evaluating Suspected Appendicitis
Authors: Kyuseok Kim, Young Hoon Kim, So Yeon Kim, Suyoung Kim, Yoon Jin Lee, Kwang Pyo Kim, Hye Seung Lee, Soyeon Ahn, Taeyun Kim, Seung-sik Hwang, Ki Jun Song, Sung-Bum Kang, Duck-Woo Kim, Seong Ho Park, Kyoung Ho Lee
Journal: New England Journal of Medicine (2012)

Computed tomography (CT) has become the predominant test for diagnosing acute appendicitis in adults. In children and young adults, exposure to CT radiation is of particular concern. We evaluated the rate of negative (unnecessary) appendectomy after low-dose versus standard-dose abdominal CT in young adults with suspected appendicitis.In this single-institution, single-blind, noninferiority trial, we randomly assigned 891 patients with suspected appendicitis to either low-dose CT (444 patients) or standard-dose CT (447 patients). The median radiation dose in terms of dose-length product was 116 mGy·cm in the low-dose group and 521 mGy·cm in the standard-dose group. The primary end point was the percentage of negative appendectomies among all nonincidental appendectomies, with a noninferiority margin of 5.5 percentage points. Secondary end points included the appendiceal perforation rate and the proportion of patients with suspected appendicitis who required additional imaging.The negative appendectomy rate was 3.5% (6 of 172 patients) in the low-dose CT group and 3.2% (6 of 186 patients) in the standard-dose CT group (difference, 0.3 percentage points; 95% confidence interval, -3.8 to 4.6). The two groups did not differ significantly in terms of the appendiceal perforation rate (26.5% with low-dose CT and 23.3% with standard-dose CT, P=0.46) or the proportion of patients who needed additional imaging tests (3.2% and 1.6%, respectively; P=0.09).Low-dose CT was noninferior to standard-dose CT with respect to negative appendectomy rates in young adults with suspected appendicitis. (Funded by GE Healthcare Medical Diagnostics and others; ClinicalTrials.gov number, NCT00913380.).
Effect of Human Alpha Defensin-5 (HAD-5) on Cytokine Expression by CaCo-2 Colonocytes: A Possible Mechanism of THI Predominance in Crohn's Disease
Authors: M.D. Srivastava, R. Rohilla, M.S. Baig, S.M. Zaidi, J. Chintanaboina, M. Moore, K.J. Qazi
Journal: Journal of Allergy and Clinical Immunology (2007)
Improving Diabetes Management and Cardiovascular Risk Factors Through Peer-Led Self-management Support Groups in Western Kenya
Authors: Paul H. Park, Charity K. Wambui, Sabina Atieno, Joseph R. Egger, Lawrence Misoi, Jack S. Nyabundi, Sonak D. Pastakia, Gerald S. Bloomfield, Jemima H. Kamano
Journal: Diabetes Care (2015)

In sub-Saharan Africa, projections anticipate a 110% rise in the number of people with diabetes mellitus (DM) from 19.8 million to 41.5 million by 2035 (1). This growth is attributed primarily to the multiple downstream ramifications of urbanization and westernization. Poor access to medications, finances, transportation, and skilled health care providers trained in DM management is a barrier that contributes to poor outcomes for patients with DM (2). As a result, patients are often forced to rely on self-management without guidance from the formal health care sector. To combat this barrier, diabetes self-management support (DSMS) programs sustain psychosocial support and education by incorporating lay DM patients as peer support group leaders at the community level (3,4). Limited data exist for DSMS outcomes in low- and middle-income countries (LMICs). The imminent rise of DM and the logistical challenges of health delivery in …
Acupuncture compared with oral antihistamine for type <scp>I</scp> hypersensitivity itch and skin response in adults with atopic dermatitis – a patient‐ and examiner‐blinded, randomized, placebo‐controlled, crossover trial
Authors: F. Pfab, M.‐T. Kirchner, J. Huss‐Marp, T. Schuster, P. C. Schalock, J. Fuqin, G. I. Athanasiadis, H. Behrendt, J. Ring, U. Darsow, V. Napadow
Journal: Allergy (2012)

Abstract Background Itch is the major symptom of atopic dermatitis ( AD ). Acupuncture has been shown to exhibit a significant effect on experimental itch in AD . Our study evaluated acupuncture and antihistamine itch therapy (cetirizine) on type I hypersensitivity itch and skin reaction in AD using a patient and examiner‐blinded, randomized, placebo‐controlled, crossover trial. Methods Allergen‐induced itch was evaluated in 20 patients with AD after several interventions in separate sessions: preventive (preceding) and abortive (concurrent) verum acupuncture ( VA p and VA a), cetirizine (10 mg, VC ), corresponding placebo interventions (preventive, PA p, and abortive, PA a, placebo acupuncture; placebo cetirizine pill, PC ) and a no‐intervention control ( NI ). Itch was induced on the forearm and temperature modulated over 20 min, using our validated model. Outcome parameters included itch intensity, wheal and flare size and the D 2 attention test. Results Mean itch intensity ( SE : 0.31 each) was significantly lower following VA a (31.9) compared with all other groups ( PA a: 36.5; VC : 36.8; VA p: 37.6; PC : 39.8; PA p: 39.9; NI : 45.7; P &lt; 0.05). There was no significant difference between VA p and VC ( P &gt; 0.1), although both therapies were significantly superior to their respective placebo interventions ( P &lt; 0.05). Flare size following VA p was significantly smaller ( P = 0.034) than that following PA p. D 2 attention test score was significantly lower following VC compared with all other groups ( P &lt; 0.001). Conclusions Both VA and cetirizine significantly reduced type I hypersensitivity itch in patients with AD , compared with both placebo and NI . Timing of acupuncture application was important, as VA a had the most significant effect on itch, potentially because of counter‐irritation and/or distraction. Itch reduction following cetirizine coincided with reduced attention.
Exercise testing for the evaluation of lipid-lowering therapy. Functional assessment versus quantitative coronary angiography in the low-density-lipoprotein apheresia atherosclerosis regression study
Authors: Wim R. Aengevaeren, Abraham A. Kroon, Tjeerd van der Werf, Gerard J. Uijen, Anton F. Staienhoef
Journal: Journal of the American College of Cardiology (1996)
Naproxen sodium, diflunisal, and placebo in the treatment of chronic back pain.
Authors: H Berry, B Bloom, E B Hamilton, D R Swinson
Journal: Annals of the Rheumatic Diseases (1982)

Thirty-seven patients with chronic back pain were entered into a randomised, 3-way, double-blind, cross-over comparison of naproxen sodium 550 mg twice daily, diflunisal 500 mg twice daily, and placebo. Each treatment was given for 14 days after a preadmission wash-out week during which only paracetamol was allowed. Patients were assessed on admission and at the end of each treatment with respect to global pain, night pain, pain on movement, and pain on standing. Both visual analogue scales and simple descriptive scales were used to measure pain. Side effects were elicited by a nonleading question. Both methods of pain measurement gave similar results and were highly correlated. Naproxen sodium was superior to placebo in relieving global pain and depending on the method of measurement, in relieving night pain and pain on movement. Diflunisal showed no significant differences from placebo. Side effects were similar on all 3 treatments. The final preference of the patients was significantly in favour of the active treatments.
Inhaled drugs as risk factors for community-acquired pneumonia
Authors: J. Almirall, I. Bolíbar, M. Serra-Prat, E. Palomera, J. Roig, I. Hospital, E. Carandell, M. Agustí, P. Ayuso, A. Estela, A. Torres
Journal: European Respiratory Journal (2010)

The effect of inhaled drugs in community-acquired pneumonia (CAP) is unclear. This case–control study was designed to determine whether inhaled drugs were risk factors for CAP. All incident cases of confirmed CAP that occurred over 1 yr in patients with chronic bronchitis (CB), chronic obstructive pulmonary disease (COPD) or asthma were included, as well as CB, COPD and asthma controls. Risk factors for CAP and inhaled treatment were recorded during a personal interview. An effect of inhaled drugs on the risk of CAP was observed in COPD and asthma patients after adjusting for the effect of other respiratory diseases and their concomitant treatments. In COPD patients, inhaled steroids had a risk OR of 3.26 (95% CI 1.07 – 9.98) and in asthma patients inhaled anticholinergics had a risk OR of 8.80 (95% CI 1.02 – 75.7). In CB patients, no association with CAP was observed for any inhaler. These effects were independent of adjusting variables related to severity and other respiratory and non-respiratory risk factors for CAP, including vaccines. Inhaled β 2 -adrenergic agonists did not show a significant effect on the risk of CAP in any of the respiratory diseases. Inhaled steroids may favour CAP in COPD patients, whereas anticholinergics may favour CAP in asthma patients. It is difficult to differentiate the effect of inhaled therapy from the effect of COPD or asthma severity on the risk of CAP, and these relationships may not be causal, but could call attention to inhaled therapy in COPD and asthma patients.