bluuebunny/crossref_metadata_2025_split huggingface dataset:
Improved Molecular Diagnostics of Idiopathic Short Stature and Allied Disorders: Quantitative Polymerase Chain Reaction-Based Copy Number Profiling of SHOX and Pseudoautosomal Region 1
Authors: D'haene Barbara , Hellemans Jan , Craen Margarita , De Schepper Jean , Devriendt Koen , Fryns Jean-Pierre , Keymolen Kathelijn , Debals Eveline , de Klein Annelies , de Jong Elisabeth M. , Segers Karin , De Paepe Anne , Mortier Geert , Vandesompele Jo , De Baere Elfride 
Published: April 2010

AbstractContext: Short stature has an incidence of three in 100 in children. Reliable molecular genetic testing may be crucial in the context of beneficial disease management. Deletions spanning or surrounding the SHOX gene account for a significant proportion of patients with idiopathic short stature (ISS) and allied disorders, such as Leri-Weill dyschondrosteosis.Objective: Several shortcomings of current strategies for copy number profiling of the SHOX region prompted us to develop an improved test for molecular diagnostics of the SHOX region.Design and Results: We introduced a quantitative PCR (qPCR)-based copy number profiling test, consisting of 11 amplicons targeting clinically relevant regions, i.e. the SHOX gene and regulatory regions. To ensure an optimal sensitivity and specificity, this test was validated in 32 controls and 18 probands with previously identified copy number changes. In addition, 152 probands with SHOX-associated phenotypes were screened, revealing 10 novel copy number changes.Conclusion: This highly validated qPCR test supersedes other approaches for copy number screening of the SHOX region in terms of reliability, accuracy, and cost efficiency. In addition, another strong point is the fact that it can be easily implemented in any standard equipped molecular laboratory. Our qPCR-based test is highly recommended for molecular diagnostics of idiopathic short stature and allied disorders.
Effect of Rhythmic Gymnastics on Volumetric Bone Mineral Density and Bone Geometry in Premenarcheal Female Athletes and Controls
Authors: Tournis S. , Michopoulou E. , Fatouros I. G. , Paspati I. , Michalopoulou M. , Raptou P. , Leontsini D. , Avloniti A. , Krekoukia M. , Zouvelou V. , Galanos A. , Aggelousis N. , Kambas A. , Douroudos I. , Lyritis G. P. , Taxildaris K. , Pappaioannou N. 
Published: April 2010

Abstract
Context and Objective: Weight-bearing exercise during growth exerts positive effects on the skeleton. Our objective was to test the hypothesis that long-term elite rhythmic gymnastics exerts positive effects on volumetric bone mineral density and geometry and to determine whether exercise-induced bone adaptation is associated with increased periosteal bone formation or medullary contraction using tibial peripheral quantitative computed tomography and bone turnover markers.
Design and Setting: We conducted a cross-sectional study at a tertiary center.
Subjects: We studied 26 elite premenarcheal female rhythmic gymnasts (RG) and 23 female controls, aged 9–13 yr.
Main Outcome Measures: We measured bone age, volumetric bone mineral density, bone mineral content (BMC), cortical thickness, cortical and trabecular area, and polar stress strength index (SSIp) by peripheral quantitative computed tomography of the left tibia proximal to the distal metaphysis (trabecular) at 14, 38 (cortical), and 66% (muscle mass) from the distal end and bone turnover markers.
Results: The two groups were comparable according to height and chronological and bone age. After weight adjustment, cortical BMC, area, and thickness at 38% were significantly higher in RG (P &lt; 0.005–0.001). Periosteal circumference, SSIp, and muscle area were higher in RG (P &lt; 0.01–0.001). Muscle area was significantly associated with cortical BMC, area, and SSIp, whereas years of training showed positive association with cortical BMC, area, and thickness independent of chronological age.
Conclusions: RG in premenarcheal girls may induce positive adaptations on the skeleton, especially in cortical bone. Increased duration of exercise is associated with a positive response of bone geometry.
Peptide YY Levels across Pubertal Stages and Associations with Growth Hormone
Authors: Lloyd Benjamin , Ravi Praful , Mendes Nara , Klibanski Anne , Misra Madhusmita 
Published: April 2010

Abstract
Context: Changes in appetite-regulating peptides may impact food intake during puberty and facilitate the pubertal growth spurt. Peptide YY (PYY) is an anorexigenic hormone that is high in anorexia nervosa and low in obesity, inhibits GnRH secretion, and is suppressed by GH administration. The relationship between PYY and GH has not been examined across puberty.
Objectives: We hypothesized that PYY would be inversely associated with GH in adolescents and would be lowest when GH is highest.
Design and Setting: We conducted a cross-sectional study at a Clinical Research Center.
Subjects: We studied 87 children, 46 boys and 41 girls ages 9–17 yr at Tanner stages 1–5 of puberty (10th–90th percentiles for body mass index).
Outcome Measures: We measured fasting PYY and nadir GH levels after administration of an oral glucose load. Leptin levels were also measured.
Results: Fasting PYY was lowest and nadir GH highest in boys in Tanner stages 3–4 (P = 0.02) and in girls in Tanner stages 2–3 (P = 0.02). Leptin levels were highest in early pubertal boys and late pubertal girls. For the group as a whole and within genders, even after controlling for body mass index, log nadir GH correlated inversely with log PYY (P = 0.003, 0.07, and 0.02). PYY levels did not correlate with leptin levels.
Conclusions: During mid-puberty, at a time when GH levels are the highest, PYY is at a nadir, and these low PYY levels may facilitate pubertal progression and growth.
Associations of Circulating Adiponectin with Measures of Vascular Function and Morphology
Authors: Gustafsson Stefan , Lind Lars , Söderberg Stefan , Ingelsson Erik 
Published: April 2010

Abstract
Context: Some previous studies have reported an association between circulating adiponectin and selected measures of vascular function and morphology, but most of these studies have been performed in small samples of patients with preexisting disease.
Objective: We aimed to evaluate associations between circulating adiponectin and comprehensive measures of vascular function and morphology in a large sample of individuals from the community.
Design, Settings, and Participants: We conducted a cross-sectional investigation of 981 70-yr-old participants (50% women) of the Prospective Investigation of the Vasculature in Uppsala Seniors (PIVUS).
Main Outcome Measures: Measures of outcome included vascular function [common carotid artery (CCA) distensibility, flow-mediated dilation, endothelium-dependent and endothelium-independent vasodilation using invasive methods] and vascular morphology [intima-media (IM) thickness, plaque presence, gray scale median (GSM) in the IM and plaques].
Results: In age- and sex-adjusted models, adiponectin was positively associated with IM-GSM, plaque GSM, CCA distensibility, endothelium-dependent and endothelium-independent vasodilation. In multivariable models (with additional adjustment for body mass index; systolic blood pressure; antihypertensive, antidiabetic, and lipid-lowering medication; fasting blood glucose; total cholesterol; high-density lipoprotein cholesterol; creatinine; and smoking), adiponectin remained positively associated with IM-GSM [β = 2.06; 95% confidence interval (CI), 0.54, 3.58], plaque GSM (β = 3.11; 95% CI, 0.36, 5.86), and CCA distensibility (β = 0.04; 95% CI, 0.00, 0.07).
Conclusions: Serum levels of adiponectin were positively associated with IM-GSM and plaque GSM (indicating lower fat content in the IM and plaques) and CCA distensibility (indicating higher wall elasticity), independent of potential confounders. Our results imply that adiponectin is associated with less arterial pathology.
Expression Profiling of Nuclear Receptors in the NCI60 Cancer Cell Panel Reveals Receptor-Drug and Receptor-Gene Interactions
Authors: Holbeck Susan , Chang Jianjun , Best Anne M. , Bookout Angie L. , Mangelsdorf David J. , Martinez Elisabeth D. 
Published: April 2010

Abstract
We profiled the expression of the 48 human nuclear receptors (NRs) by quantitative RT-PCR in 51 human cancer cell lines of the NCI60 collection derived from nine different tissues. NR mRNA expression accurately classified melanoma, colon, and renal cancers, whereas lung, breast, prostate, central nervous system, and leukemia cell lines exhibited heterogeneous receptor expression. Importantly, receptor mRNA levels faithfully predicted the growth-inhibitory qualities of receptor ligands in nonendocrine tumors. Correlation analysis using NR expression profiles and drug response information across the cell line panel uncovered a number of new potential receptor-drug interactions, suggesting that in these cases, individual receptor levels may predict response to chemotherapeutic interventions. Similarly, by cross-comparing receptor levels within our expression dataset and relating these profiles to existing microarray gene expression data, we defined interactions among receptors and between receptors and other genes that can now be mechanistically queried. This work supports the strategy of using NR expression profiling to classify various types of cancer, define NR-drug interactions and receptor-gene networks, predict cancer-drug sensitivity, and identify druggable targets that may be pharmacologically manipulated for potential therapeutic intervention.
High-risk sexual behaviours and genital chlamydial infections in high school students in Southern Taiwan
Authors: Hsieh Y-H , Shih T-Y , Lin H-W , Hsieh T-C , Kuo M-J , Lin C-W , Gaydos C A 
Published: April 2010

Summary The objective of this study was to determine the prevalence of high-risk sexual behaviours and sexually transmitted infections (STIs) and associated risk factors in Taiwanese high school students. Students in grades 10 and 11 (mean age: 15.9 ± 0.9; range: 13–20 years) at two schools were recruited. An anonymous online real-time computer-assisted self-interviewing questionnaire was designed to assess demographic factors and sexual behaviours. Urine specimens were tested for genital chlamydial and gonococcal infections. The same survey and screening was conducted one year later on the same group of students. Overall, 670 individual students (993 visits) were enrolled with 323 students in both surveys. Twenty-seven percent had had sexual intercourse, and more than three quarters (79%) of them had engaged in high-risk sexual behaviours. Having friends using drugs increased the odds of practicing high-risk sexual behaviours (odds ratio [OR] 1.99, 95% CI: 1.13 to 3.50). Among 182 sexually active students, 8.8% had chlamydial (female: 12.5%; male: 5.3%) and 1.1% had gonococcal infections. Having sex with someone met on the Internet was the most significant risk factor for acquiring chlamydia (OR 8.14, 95% CI: 2.82 to 23.51). In conclusion, this adolescent population reported high prevalence of high-risk sexual behaviours and had a high prevalence of chlamydia supportive of a potential epidemic of STIs and HIV.
Syphilis and HIV co-infection in an Israeli HIV clinic: incidence and outcome
Authors: Agmon-Levin N , Elbirt D , Asher I , Gradestein S , Werner B , Sthoeger Z 
Published: April 2010

Summary The re-emergence of syphilis among HIV-infected patients has been reported in recent years. We evaluated co-infection among heterosexual immigrants in an Israeli AIDS center. The records of 1060 HIV-infected patients were evaluated for positive syphilis serology between the years 2000 and 2005, and all seropositive patients were further evaluated. We found 150 HIV/syphilis co-infected patients (57% men, 93% of African origin), of who 135 were found to have late latent syphilis. Lumbar puncture (LP) was performed in 51 patients, 16 (31 %) had abnormal cerebrospinal fluid (CSF) compatible with neurosyphilis. Abnormal CSF correlated with the absence of previous anti-syphilis treatment, but not with CD4 count, viral load or Venereal Disease Research Laboratory titres. Penicillin was recommended to all patients according to their disease stages and 81 patients completed 12 months post-treatment follow-up. Twenty-one of 81 (26%) treatments were successful, 33 (41 %) showed ‘serofast reaction’ and 27 (33%) failed therapy. In conclusion, a high incidence of syphilis with CSF reactivity suggestive of neurosyphilis was observed in heterosexual Ethiopian HIV-infected patients. Thus, repeated serological screening and CSF evaluation seems to be indicated in these patients. Penicillin therapy resulted in ‘serofast reaction’ or treatment failure for most patients. More, intensive treatment might be needed for HIV/syphilis in co-infected patients, especially those with severe immune-deficiency and prolonged syphilis infection.
Field collection of rectal samples for sexually transmitted infection diagnostics among men who have sex with men
Authors: Dodge B , Van Der Pol B , Rosenberger J G , Reece M , Roth A M , Herbenick D , Fortenberry J D 
Published: April 2010

Summary Rectal sexually transmitted infections (STIs) are common in men at risk for urethral infections with these pathogens, particularly men who have sex with men (MSM). However, for those individuals not regularly seen by a clinician, screening for rectal STI is not currently a widespread option. Qualitative data and samples (i.e. self-obtained rectal specimens) were collected from 75 MSM in a variety of venues. Upon completion of the rectal self-sampling, each participant completed a brief interview regarding their overall experience with the process. Participants reported an overall high level of acceptability and comfort-level involved with self-sampling for rectal STI. Of the majority of men who agreed to provide a rectal self-sample, all reported that they would provide a sample again in the future. However, many men also appreciated the interaction with a health-care provider that a clinical setting offered. In conclusion, self-sampling is a feasible and acceptable option when offered to MSM in a range of community-based venues. Further research is needed to determine which combinations of STI testing and treatment methods (including self-sampling) are most appropriate for diverse groups of men.
Lymphogranuloma venereum serovar L2b in Portugal
Authors: Castro R , Baptista T , Vale A , Nunes H , Prieto E , Araújo C , Mansinho K , Pereira F Da Luz Martins 
Published: April 2010

Summary Chlamydia trachomatis, serovar L2, is the causative agent of lymphogranuloma venereum (LGV), which during recent years has been responsible for various outbreaks reported among men who have sex with men (MSM) in Western Europe, America, Canada and Australia. Samples from nine patients with chronic proctitis, seen at a local hospital were sent to us for identification of C. trachomatis serovar L2. The presence of C. trachomatis serovar L DNA was identified by realtime polymerase chain reaction (PCR) in two patients. They both had high positive C. trachomatis antibody titres (≥ 10,000) and were found to be infected with serovar L2b by sequencing after amplification of the omp 1 gene by a nested PCR technique. These two individuals met the diagnostic criteria for LGV serovar L2b infection and, to our knowledge, these are the first cases described in Portugal.
Something for the weekend! Saturday services – what do patients want and what do they need?
Authors: Challenor R , Warwick Z 
Published: April 2010

Summary We investigated our patients’ preferences for weekend services at the same time as commencing a new Saturday clinic. Patients were asked for their views on weekend services: 374 questionnaires were returned; 210 (56%) from women and 164 (44%) from men. Saturday services were rated as more important than Sunday services. One hundred and eleven patients (29.7%) said they would be likely/very likely to use a Saturday service, whereas only 67 (17.9%) rated Sunday services as important/very important. We also undertook an evaluation of our new Saturday service. A total of 214 patients (187 new/rebooks and 27 follow-ups) attended during the first 12 weeks; average 18 patients per clinic; 107 (50%) men. Introducing text appointment reminders reduced did not attend (DNA) rates from 19% to 14% (background clinic DNA rate 10%). There were more men (P = 0.01), more patients with symptoms (P < 0.0001) and more with sexually transmitted infections (STIs) (P = 0.02) attending on Saturdays. We have increased access for those patients who have difficulty attending on weekdays (56%), reduced anxiety (44%) and accessed a population with a high prevalence of STIs (44%). We conclude our Saturday service is affordable, sustainable and in patients’ interests. Other clinics may wish to look at the needs of their local population and design services appropriate to their own area.
Previous history of gonococcal infection as a risk factor in patients presenting with gonorrhoea
Authors: Fowler T , Caley M , Johal R , Brown R , Ross J D C 
Published: April 2010

Summary Recidivism is common in patients infected with gonorrhoea. Identifying the factors most closely associated with recurrent gonococcal infection can help to target health promotion and disease prevention interventions. A case-control study design was used to quantify the importance of past infection as a risk marker for gonorrhoea while controlling for other demographic and behavioural factors. Data were available for 134 cases of gonorrhoea and 150 controls. A history of gonorrhoea (odds ratio [OR] 4.36 [95% CI 1.78–10.71]) was the strongest predictor of current infection. The number of partners in the last month (OR 2.19 [95% CI 1.20–4.02]) was also significantly associated with a diagnosis of gonorrhoea. Patients presenting with gonorrhoea are a specific high-risk group who require additional interventions and should be prioritized for evidence-based, enhanced and interactive counselling.
Pilot study of the utility and acceptability of tampon sampling for the diagnosis of Neisseria gonorrhoeae and Chlamydia trachomatis infections by duplex realtime polymerase chain reaction in United Kingdom sex workers
Authors: Phd P T Kimmitt , Phd S N Tabrizi , Crosatti M , Frcpa S M Garland , Frcp P C Schober , Frcpa K Rajakumar , Mrcp C A Chapman 
Published: April 2010

Summary We aimed to evaluate the acceptability of self-collected tampon samples for the screening of female sex workers for sexually transmitted infections. We recruited 65 sex workers, and 63 agreed to provide tampon samples. The tampon samples were processed by realtime polymerase chain reaction (PCR) targeting Neisseria gonorrhoeae and Chlamydia trachomatis. Urethral and endocervical swabs were also obtained from 61 of 63 participants and tested using culture (N. gonorrhoeae) and the BD ProbeTec™ strand displacement amplification (SDA) (C. trachomatis) assay. Tampon sampling was preferred by 95% of the women and all favoured being tested away from genitourinary medicine clinics; the most common reasons cited were avoidance of embarrassment (40%) and convenience (30%). Besides near-universal acceptability of tampon sampling, the tampon sampling–PCR approach described in this study appeared to have enhanced sensitivity compared with conventional testing, suggesting the possibility of a residual hidden burden of N. gonorrhoeae and/or C. trachomatis genital infections in UK female sex workers.
Sampling for Chlamydia trachomatis infection – a comparison of vaginal, first-catch urine, combined vaginal and first-catch urine and endocervical sampling
Authors: Falk L , Coble B-I , Mjörnberg P-A , Fredlund H 
Published: April 2010

Summary The aim of the study was to evaluate the sensitivity of patients’ self-sampled vaginal specimens, first-catch urine (FCU), combined vaginal/FCU specimens and endocervical specimens for detecting chlamydial infection in women. Women attending sexually transmitted disease clinics, youth clinics and a women's health clinic were enrolled. They self-collected a vaginal specimen with two swabs, which were placed into a sterile tube and into a tube containing a buffer medium, respectively. An FCU sample was collected and aliquoted into both an empty tube and the tube containing the vaginal swab. A clinician collected an endocervical swab. The samples were sent to laboratories for analysis using polymerase chain reaction testing and strand displacement amplification testing, respectively. The sensitivities calculated in all 171 Chlamydia trachomatis-infected women were equal for endocervical specimens (97.1 %), vaginal specimens (96.5%) and combined vaginal/FCU specimens (95.3%), whereas the sensitivity for FCU was significantly lower (87.7%). The sensitivity of vaginal specimens for the detection of C. trachomatis is as high as that of combined vaginal/FCU specimens.
Integrated care pathway for diabetes identified in pregnancy
Authors: Jeffrys Amanda , Webster Danny , Gardner Mary , Douek Isy , Fox Robert 
Published: April 2010

Summary We developed an integrated care pathway for diabetes identified in pregnancy largely based on National Institute of Clinical Excellence (NICE) CG063 - Diabetes in Pregnancy (2008). As well as providing the integrated care pathway (ICP) for clinicians to consider using in their units, this article describes the process used, and the lessons learned, during the project. The ICP runs from the point of diagnosis to the early postnatal period. It covers glycaemic management, care of diabetic complications, obstetric care (antenatal and intrapartum), thromboprophylaxis and influenza vaccination. It is used by physicians, obstetricians, dieticians, specialist diabetes nurses and specialist midwives. An audit showed a high degree of compliance with a care bundle derived from NICE CG063 (2008). We felt that it systemized our clinical processes and reduced errors of omission. Alongside the production of the ICP, a patient information leaflet was written to support women in making choices during pregnancy and afterwards.
Optimizing Schedules for Maritime Humanitarian Cooperative Engagements from a United States Navy Sea Base
Authors: Salmerón Javier , Kline Jeffrey , Densham Greta Spitz 
Published: April 2010

This paper introduces Global Fleet Station Mission Planner (GFSMP), an optimization tool to aid in mission planning and the scheduling of humanitarian assistance missions for the US Navy. GFSMP helps fleet staffs to examine how one naval ship, which was deployed for an extended period (e.g., six months), with embarked teams can best provide humanitarian assistance. We illustrate the application of GFSMP using notional data from the fall 2007 Gulf of Guinea African Partnership Station demonstration, which the Commander, US Naval Forces Europe–Commander, Sixth Fleet developed, and by its use in the Trident Warrior 2009 exercise, which the Commander of the US Second Fleet conducted. In contrast to manual planning GFSMP's solutions significantly improve total mission value achieved and reduce costs. Equally important, GFSMP quickly provides decision makers with courses of action, including partial rescheduling of existing plans, in response to exigent changes. “Do good with what thou hast, or it will do thee no good.” William Penn, American colonial leader (1644–1718)