tbuckley/cabot-search huggingface dataset:
Low cognitive ability in patients with bronchiectasis
Authors: Emel Bulcun, Pinar Yildiz Gülhan, Mustafa Gülhan, Dilay Çimen, Aydanur Ekici, Mehmet Ekici
Journal: European Respiratory Journal (2014)

Objective:Patients with bronchiectasis may be associated with low cognitive ability. The goal of this study was to determine the frequency and determinants of low cognitive ability in patients with with stable bronchiectasis.  Methods: Thirty patients with stable bronchiectasis and 25 healthy control subjects underwent a cognitive ability assessment using Wechsler Adult Intelligence Scale. Age, BMI, the Hospital Anxiety and Depression scale and pulmonary function were assessed.  Results:Mean scores on the verbal, performance, and full scale IQ scores were significantly lower in the patients with bronchiectasis than in the healthy volunteers  .  Low cognitive ability in the patients with bronchiectasis was associated with higher depression scores, lower oxygen saturation and poor lung function after adjusting for potential confounders in multivariate analysis.  Borg score after exercise in bronchiectasis patients with low cognitive ability was higher than that of bronchiectasis patients with high cognitive ability, despite the PaO2 and FEV1 in both groups was similar.  Conclusion: Low cognitive ability in patients with bronchiectasis may be associated with reduced lung functions, more serious hypoxemia and higher depressive symptoms. Bronchiectasis patients with low cognitive ability feel more intense dyspnea than high cognitive ability ones.
High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations
Authors: Marijana Peričić, Lovorka Barać Lauc, Irena Martinović Klarić, Siiri Rootsi, Branka Janićijević, Igor Rudan, Rifet Terzić, Ivanka Čolak, Ante Kvesić, Dan Popović, Ana Šijački, Ibrahim Behluli, Dobrivoje Đorđević, Ljudmila Efremovska, Đorđe D. Bajec, Branislav D. Stefanović, Richard Villems, Pavao Rudan
Journal: Molecular Biology and Evolution (2005)

The extent and nature of southeastern Europe (SEE) paternal genetic contribution to the European genetic landscape were explored based on a high-resolution Y chromosome analysis involving 681 males from seven populations in the region. Paternal lineages present in SEE were compared with previously published data from 81 western Eurasian populations and 5,017 Y chromosome samples. The finding that five major haplogroups (E3b1, I1b* (xM26), J2, R1a, and R1b) comprise more than 70% of SEE total genetic variation is consistent with the typical European Y chromosome gene pool. However, distribution of major Y chromosomal lineages and estimated expansion signals clarify the specific role of this region in structuring of European, and particularly Slavic, paternal genetic heritage. Contemporary Slavic paternal gene pool, mostly characterized by the predominance of R1a and I1b* (xM26) and scarcity of E3b1 lineages, is a result of two major prehistoric gene flows with opposite directions: the post-Last Glacial Maximum R1a expansion from east to west, the Younger Dryas-Holocene I1b* (xM26) diffusion out of SEE in addition to subsequent R1a and I1b* (xM26) putative gene flows between eastern Europe and SEE, and a rather weak extent of E3b1 diffusion toward regions nowadays occupied by Slavic-speaking populations.
Assessment of therapeutic benefit of antiviral therapy in chronic hepatitis C: is hepatic venous pressure gradient a better end point?
Authors: A K Burroughs
Journal: Gut (2002)

Chronic hepatitis C is a major healthcare problem. The response to antiviral therapy for patients with chronic hepatitis C has previously been defined biochemically and by PCR. However, changes in the hepatic venous pressure gradient (HVPG) may be considered as an adjunctive end point for the therapeutic evaluation of antiviral therapy in chronic hepatitis C. It is a validated technique which is safe, well tolerated, well established, and reproducible. Serial HVPG measurements may be the best way to evaluate response to therapy in chronic hepatitis C.
A genome-wide association study on African-ancestry populations for asthma
Authors: Rasika A. Mathias, Audrey V. Grant, Nicholas Rafaels, Tracey Hand, Li Gao, Candelaria Vergara, Yuhjung J. Tsai, Mao Yang, Monica Campbell, Cassandra Foster, Peisong Gao, A. Togias, Nadia N. Hansel, Gregory Diette, N. Franklin Adkinson, Mark C. Liu, Mezbah Faruque, Georgia M. Dunston, Harold R. Watson, Michael B. Bracken, Josephine Hoh, Pissamai Maul, Trevor Maul, Anne E. Jedlicka, Tanda Murray, Jacqueline B. Hetmanski, Roxann Ashworth, Chrissie M. Ongaco, Kurt N. Hetrick, Kimberly F. Doheny, Elizabeth W. Pugh, Charles N. Rotimi, Jean Ford, Celeste Eng, Esteban G. Burchard, Patrick M.A. Sleiman, Hakon Hakonarson, Erick Forno, Benjamin A. Raby, Scott T. Weiss, Alan F. Scott, Michael Kabesch, Liming Liang, Gonçalo Abecasis, Miriam F. Moffatt, William O.C. Cookson, Ingo Ruczinski, Terri H. Beaty, Kathleen C. Barnes
Journal: Journal of Allergy and Clinical Immunology (2009)
Identification, Cellular Distribution and Potential Function of the Metalloprotease-Disintegrin MDC9 in the Kidney
Authors: RAJEEV M. MAHIMKAR, WILLIAM H. BARICOS, ORVIN VISAYA, ALLAN S. POLLOCK, DAVID H. LOVETT
Journal: Journal of the American Society of Nephrology (2000)

Abstract. The complex interactions of glomerular and tubular epithelial cells with the basal laminae play a critical role in renal function. Disruption of these interactions has been widely implicated in glomerular diseases and acute renal failure. MDC are a large family of membrane-bound proteins containing m etalloprotease, d isintegrin (integrin interaction sites), and c ysteine-rich domains. Little information is available concerning the presence of MDC in the kidney or their role in renal pathophysiology. Using degenerate PCR primers for the conserved metalloprotease and disintegrin domains of this protein family, cDNA templates from tubules, whole glomeruli, and glomerular epithelial cells (GEC) yielded a single, 195-bp product, which on sequence analysis corresponded to a region in the disintegrin domain of MDC9. Northern analysis of poly(A) + RNA from tubules, whole glomeruli, and GEC revealed a 3.9-kb transcript, identical to that of mouse MDC9. Using antibodies generated against a 21-amino acid peptide present in the metalloprotease domain of MDC9, Western analysis of concanavalinA-enriched glomerular microsomal extracts demonstrated both processed (76 kD) and unprocessed (116 kD) forms of MDC9, which upon reduction changed to the corresponding 84- and 124-kD forms. Histochemical studies revealed a basolateral localization of intrinsic MDC9 protein in renal cortical tubule cells and glomerular visceral epithelial cells, which colocalized with the β1 integrin chain. Expression of green fluorescence protein MDC9 chimeric constructs in GEC or polarized Madin-Darby canine kidney epithelial cells revealed a similar punctate basolateral surface localization. Transient overexpression of the soluble disintegrin domain-green fluorescence protein chimera in GEC led to dramatic changes in cellular morphology with rounding and detachment from cell monolayers. These studies document the presence of MDC9 in renal epithelial cells and suggest an important role for MDC9 in renal epithelial cellular interactions with the basal lamina and adjoining cells.
Pharmacogenetics of Tamoxifen Biotransformation Is Associated With Clinical Outcomes of Efficacy and Hot Flashes
Authors: Matthew P. Goetz, James M. Rae, Vera J. Suman, Stephanie L. Safgren, Matthew M. Ames, Daniel W. Visscher, Carol Reynolds, Fergus J. Couch, Wilma L. Lingle, David A. Flockhart, Zeruesenay Desta, Edith A. Perez, James N. Ingle
Journal: Journal of Clinical Oncology (2005)

Polymorphisms in tamoxifen metabolizing genes affect the plasma concentration of tamoxifen metabolites, but their effect on clinical outcome is unknown.We determined cytochrome P450 (CYP)2D6 (*4 and *6) and CYP3A5 (*3) genotype from paraffin-embedded tumor samples and buccal cells (living patients) in tamoxifen-treated women enrolled onto a North Central Cancer Treatment Group adjuvant breast cancer trial. The relationship between genotype and disease outcome was determined using the log-rank test and Cox proportional hazards modeling.Paraffin blocks were obtained from 223 of 256 eligible patients, and buccal cells were obtained from 17 living women. CYP2D6 (*4 and *6) and CYP3A5 (*3) genotypes were determined from 190, 194, and 205 patient samples and in 17 living women. The concordance rate between buccal and tumor genotype was 100%. Women with the CYP2D6 *4/*4 genotype had worse relapse-free time (RF-time; P = .023) and disease-free survival (DFS; P = .012), but not overall survival (P = .169) and did not experience moderate to severe hot flashes relative to women heterozygous or homozygous for the wild-type allele. In the multivariate analysis, women with the CYP2D6 *4/*4 genotype still tended to have worse RFS (hazard ratio [HR], 1.85; P = .176) and DFS (HR, 1.86; P = .089). The CYP3A5*3 variant was not associated with any of these clinical outcomes.In tamoxifen-treated patients, women with the CYP2D6 *4/*4 genotype tend to have a higher risk of disease relapse and a lower incidence of hot flashes, which is consistent with our previous observation that CYP2D6 is responsible for the metabolic activation of tamoxifen to endoxifen.
Suppression of Endothelial Nitric Oxide Production After Withdrawal of Statin Treatment Is Mediated by Negative Feedback Regulation of Rho GTPase Gene Transcription
Authors: Ulrich Laufs, Matthias Endres, Florian Custodis, Karen Gertz, Georg Nickenig, James K. Liao, Michael Böhm
Journal: Circulation (2000)

Background —Statins improve endothelial function by upregulating endothelial nitric oxide (NO) production that is mediated by inhibiting the isoprenylation of rho GTPase. Withdrawal of statin treatment could suppress endothelial NO production and may impair vascular function. Methods and Results —To test this hypothesis, mice were treated for 14 days with 10 mg/kg atorvastatin per day; this led to the upregulation of endothelial NO synthase expression and activity by 2.3- and 3-fold, respectively. Withdrawal of statins resulted in a dramatic, 90% decrease of NO production after 2 days. In mouse aortas and cultured endothelial cells, statins upregulated the expression of rho GTPase in the cytosol, but statins blocked isoprenoid-dependent rho membrane translocation and GTP-binding activity. Inhibiting the downstream targets of rho showed that rho expression is controlled by a negative feedback mechanism mediated by the actin cytoskeleton. Measuring rho mRNA half-life and nuclear run-on assays demonstrated that statins or disruption of actin stress fibers increased rho gene transcription but not rho mRNA stability. Therefore, treatment with statins leads to the accumulation of nonisoprenylated rho in the cytosol. Withdrawing statin treatment restored the availability of isoprenoids and resulted in a massive membrane translocation and activation of rho, causing downregulation of endothelial NO production. Conclusions —Withdrawal of statin therapy in normocholesterolemic mice results in a transient increase of rho activity, causing a suppression of endothelial NO production. The underlying molecular mechanism is a negative feedback regulation of rho gene transcription mediated by the actin cytoskeleton.
Advising a cardiac disease gene positive yet phenotype negative or borderline abnormal athlete: Is sporting disqualification really necessary?
Authors: Pascale Richard, Isabelle Denjoy, Véronique Fressart, Mathew G. Wilson, François Carré, Philippe Charron
Journal: British Journal of Sports Medicine (2012)

The sudden cardiac death (SCD) of an athlete is a rare and tragic event, often caused by a number of inherited heart muscle disorders, namely the cardiomyopathies and primary arrhythmia syndromes (also known as cardiac ion channelopathies). Recent advances in the understanding of the molecular genetics of these heritable cardiovascular diseases present new challenges for clinicians who manage athletes with these types of heart muscle conditions. Unfortunately, the clinical heterogeneity of many of these SCD diseases are also matched by the genotypic heterogeneity associated with the pathogenesis of the disease. A particularly challenging situation arises when the sports physician and attending cardiologist are presented with an athlete who demonstrates a familial context of inherited cardiac disease or presents mild cardiac abnormalities suggestive of inherited cardiac disease. Alongside the complete cardiac evaluation, genetic testing may be proposed as an additional diagnostic tool in this clinical conundrum. However, debate still remains on how extensive the screening should be, in particular the use and interpretation of genetic testing in that setting. The aim of this review is to examine the role of genetic testing within the diagnostic algorithm of preparticipation screening of athletes. This will be achieved by providing the sports medicine physician with simple current cardiac genetic knowledge for the main inherited cardiac conditions known to cause SCD. Furthermore, it will examine current knowledge for the role of genetic testing upon the prediction of SCD, concluding with its impact on the sport eligibility and disqualification conundrum using case examples from our genetic testing laboratory.
Afferent and Efferent Tracts of the Medulla
Authors: W. A. Turner
Journal: BMJ (1897)

<h3>Objective:</h3> To assess palliation topic preferences amongst ALS patients attending a multidisciplinary clinic. <h3>Background:</h3> Amyotrophic Lateral Sclerosis (ALS), is a rapidly progressive, neurodegenerative disease. Advanced care planning (ACP), palliation, and psychosocial needs must be discussed early. Literature recommends introducing palliation at dynamic points in a multidisciplinary clinic; however, this is inconsistently practiced. There are no guidelines for when, with whom, or how palliation is discussed. Our QI study surveyed patients at our ALS clinic to assess palliative needs and preferences. <h3>Design/Methods:</h3> A nine question survey was given to 30 ALS patients attending a multidisciplinary clinic over one year. Descriptive statistics were performed. <h3>Results:</h3> 30 patients (15 males 27 Caucasians, mean age 66, age range 51–84) enrolled. Patients were “very open” to their provider discussing: ACP 21(70%), planning for when more help is likely needed 20(66.7%), likely disease complications 19(63.3%), end-of-life discussion 20(66.7%). 14(50%) patients ranked planning for when more help is likely needed as most important. 20(71%) patients chose “my neurologist” as their preferred healthcare provider to initiate topics. 17(61%) patients preferred their physician to present topics. 16(53%) patients wanted their neurologists to decide to initiate these topics. Partial correlations showed a positive significant correlation between the ALS-FRS score and importance of discussing life complications (p=0.08, r=0.539) and a trending negative correlation between the ALS-FRS score and discussing end of life care (p=0.051, r=0.411). <h3>Conclusions:</h3> ALS patients want to plan for their future. ACP, needing more help, and end-of-life discussions were ranked highest. Scoring higher on the ALS-FRS is associated with less impairment leading to planning for complications and also less likely to discuss advanced directives until disease progression. Our patients want initiation and discussion by their neurologist, this may be a selection bias, as other providers are unavailable in our clinic. By understanding our patients’ preferences we hope to appropriately introduce this service. <b>Disclosure:</b> Dr. Yogendran has nothing to disclose. Dr. Barcelo has nothing to disclose. Dr. Mortel has nothing to disclose. Dr. Shane has nothing to disclose. Dr. Ibarra has nothing to disclose. Dr. Horak has nothing to disclose. Dr. Johnston has nothing to disclose. Dr. Scherer has nothing to disclose.
Treatment outcome of multidrug/extensively drug-resistant tuberculosis in Latvia, 2000-2004
Authors: V. Leimane, G. Dravniece, V. Riekstina, I. Sture, S. Kammerer, M.P. Chen, G. Skenders, T.H. Holtz
Journal: European Respiratory Journal (2010)

In the present study, we characterised drug-resistance patterns, compared treatment outcome between extensively and nonextensively drug-resistant tuberculosis (non-XDR-TB) cases, and assessed risk factors for poor outcome in a high-prevalence country that screens all TB patients for first-line anti-TB drug resistance. We reviewed drug susceptibility test results among all pulmonary TB cases in Latvia diagnosed from 2000–2004, as well as demographic and clinical characteristics, drug-resistance patterns, and treatment outcomes. During the 5-yr period, 1,027 multidrug-resistant tuberculosis (MDR-TB) cases initiated treatment. Among all cases, the proportion that experienced an outcome of cure or completion increased from 66.2 to 70.2% (p = 0.06 for linear trend). Among the 48 (4.7%) XDR-TB cases, 18 (38%) were cured, four (8%) died, three (6%) defaulted, and treatment failed in 23 (48%). In proportional-hazards analysis, characteristics significantly associated with poor outcome included XDR-TB, being retired, presence of bilateral cavitation, and previous MDR-TB treatment history for those aged ≥55 yrs. Overall, treatment success among all MDR-TB cases increased over time. Strategies to prevent transmission of XDR-TB and to further improve treatment outcome are crucial for the future of TB control in Latvia.
Bone sialoprotein plays a functional role in bone formation and osteoclastogenesis
Authors: Luc Malaval, Ndéyé Marième Wade-Guéye, Maya Boudiffa, Jia Fei, Ralph Zirngibl, Frieda Chen, Norbert Laroche, Jean-Paul Roux, Brigitte Burt-Pichat, François Duboeuf, Georges Boivin, Pierre Jurdic, Marie-Hélène Lafage-Proust, Joëlle Amédée, Laurence Vico, Janet Rossant, Jane E. Aubin
Journal: The Journal of Experimental Medicine (2008)

Bone sialoprotein (BSP) and osteopontin (OPN) are both highly expressed in bone, but their functional specificities are unknown. OPN knockout (-/-) mice do not lose bone in a model of hindlimb disuse (tail suspension), showing the importance of OPN in bone remodeling. We report that BSP(-/-) mice are viable and breed normally, but their weight and size are lower than wild-type (WT) mice. Bone is undermineralized in fetuses and young adults, but not in older (> or =12 mo) BSP(-/-) mice. At 4 mo, BSP(-/-) mice display thinner cortical bones than WT, but greater trabecular bone volume with very low bone formation rate, which indicates reduced resorption, as confirmed by lower osteoclast surfaces. Although the frequency of total colonies and committed osteoblast colonies is the same, fewer mineralized colonies expressing decreased levels of osteoblast markers form in BSP(-/-) versus WT bone marrow stromal cultures. BSP(-/-) hematopoietic progenitors form fewer osteoclasts, but their resorptive activity on dentin is normal. Tail-suspended BSP(-/-) mice lose bone in hindlimbs, as expected. In conclusion, BSP deficiency impairs bone growth and mineralization, concomitant with dramatically reduced bone formation. It does not, however, prevent the bone loss resulting from loss of mechanical stimulation, a phenotype that is clearly different from OPN(-/-) mice.
Alcohol Abuse: A Crucial Factor in the Social Problems of Negro Men
Authors: LUCY JANE KING, GEORGE E. MURPHY, LEE N. ROBINS, HARRIET DARVISH
Journal: American Journal of Psychiatry (1969)

In an interview study of 223 young urban Negro men, the authors found that increasing degrees of alcohol use were associated with increasing evidence of social deviance. Absence of the father from the childhood home and failure to complete high school strongly predict heavy drinking in adult life. Heavy drinking, with or without these negative factors, is equally predictive of social deviance. The authors conclude that alcohol abuse is not simply another symptom of social deviance but an important intervening variable in the ghetto cycle of broken home, delinquency, underemployment, and broken home.
Screening for Gonorrhea and Chlamydia: A Systematic Review for the U.S. Preventive Services Task Force
Authors: Bernadette Zakher, Amy G. Cantor, Miranda Pappas, Monica Daeges, Heidi D. Nelson
Journal: Annals of Internal Medicine (2014)

Previous research has supported screening for gonorrhea and chlamydia in asymptomatic, sexually active women (including pregnant women) who are younger than 25 years or at increased risk but not in other patient populations.To update the 2005 and 2007 systematic reviews for the U.S. Preventive Services Task Force on screening for gonorrhea and chlamydia in men and women, including pregnant women and adolescents.MEDLINE (1 January 2004 to 13 June 2014), Cochrane databases (May 2014), ClinicalTrials.gov, and reference lists.English-language trials and observational studies about screening effectiveness, test accuracy, and screening harms.Extracted study data were confirmed by a second investigator, and study quality and applicability were dual-rated using prespecified criteria.Screening a subset of asymptomatic young women for chlamydia in a good-quality trial did not significantly reduce the incidence of pelvic inflammatory disease over the following year (relative risk, 0.39 [95% CI, 0.14 to 1.08]); however, 1 previous trial reported a reduction. An observational study evaluating a risk prediction tool to identify persons with chlamydia in high-risk populations had low predictive ability and applicability. In 10 new studies of asymptomatic patients, nucleic acid amplification tests demonstrated sensitivity of 86% or greater and specificity of 97% or greater for diagnosing gonorrhea and chlamydia, regardless of specimen type or test.There were few relevant studies of screening benefits and harms. Only screening tests and methods cleared by the U.S. Food and Drug Administration for current clinical practice were included to determine diagnostic accuracy.Chlamydia screening in young women may reduce the incidence of pelvic inflammatory disease. Nucleic acid amplification tests are accurate for diagnosing gonorrhea and chlamydia in asymptomatic persons.Agency for Healthcare Research and Quality.
Does Marijuana Use Cause the Use of Other Drugs?
Authors: Denise B. Kandel
Journal: JAMA (2003)

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