nils-herrmann/clean_scirepeval huggingface dataset:
Pamidronate treatment improves bone mineral density in children with Menkes disease

Menkes disease is a severe multisystem disorder due to defective bioavailability and transport of copper at the cellular level. Deficient activity of lysyl oxidase, a copper-dependent enzyme, causes defective collagen cross-linking leading to osteoporosis and pathological fractures in these children. The objective of the study was to evaluate the changes in bone mineral density following pamidronate treatment in children with Menkes disease. The study design was an open observational study of three children with Menkes disease and significant osteoporosis with or without pathological fractures, all of whom received pamidronate treatment for 1 year. There were 34–55% and 16–36% increases in lumbar spine bone mineral content and areal bone mineral density, respectively, following 1 year of treatment with pamidronate. There were no further fractures in two of the three children treated. No adverse effects of pamidronate treatment were noted. Pamidronate treatment was associated with an increase in bone mineral density and may be an effective treatment modality for the management of osteoporosis in children with Menkes disease.
Randomized clinical trial of a school-based academic and counseling program for older school-age students.

Up to 17% of children in the United States have been diagnosed with asthma; children ages 9-14 years experience higher morbidity and mortality compared with other age groups. An academic and counseling program for older elementary students with asthma was developed in collaboration with school personnel, healthcare professionals, and community members: Staying Healthy-Asthma Responsible and Prepared (SHARP). The life span development perspective and the Acceptance of Asthma Model were used to guide development and implementation.



This study aimed to establish the preliminary efficacy of SHARP to improve cognitive, behavioral, psychosocial, and quality-of-life outcomes.



A two-group, longitudinal, prospective, cluster randomized clinical trial design was used. The sample of fourth- to sixth-grade students (N = 66) with asthma aged 9-12 years (M = 10.5, SD = 0.9) was 52% male, was racially diverse (30% Black, 36% White, and 18% biracial), and had a wide range of incomes. Three schools (n = 38 students) were randomized to receive SHARP, and two schools (n = 28 students) were assigned to usual care. Self-report instruments were used.



Compared with the usual care group, statistically significant improvements in the SHARP group were found in student knowledge of asthma, reasoning about asthma, use of risk reduction behaviors, and participation in life activities (p < .01, effect sizes >0.7). Improvements in use of episode management behaviors and acceptance of asthma outcomes were clinically significant with medium effect sizes of 0.3-0.5.



The SHARP Student and Community Components demonstrated preliminary efficacy for improving asthma knowledge, reasoning about asthma, use of episode management and risk reduction behaviors, acceptance of asthma in taking control and vigilance, and participation in life activities.
Alcohol intake and risk of Parkinson's disease: a meta-analysis of observational studies.

The association of alcohol intake with risk of Parkinson's disease remains unclear.



Pertinent studies were identified in PubMed and EMBASE. The fixed-effect or random-effect model was selected based on heterogeneity. The dose-response relationship was assessed by restricted cubic splines.



We included 32 articles, involving 677,550 subjects (9994 cases). The smoking-adjusted risk of Parkinson's disease for the highest versus lowest level of alcohol intake was relative risk (RR) 0.78 (95% confidence interval [CI], 0.67-0.92) overall, 0.86 (95% CI, 0.75-0.995) in prospective studies, and 0.74 (95% CI, 0.58-0.96) in matched case-control studies. A significant association was found with beer (0.59; 95% CI, 0.39-0.90) but not with wine and liquor, and for males (0.65; 95% CI, 0.47-0.90) after a sensitivity analysis but not for females. The risk of Parkinson's disease decreased by 5% (0.95; 95% CI, 0.89-1.02) for every 1 drink/day increment in alcohol intake in a linear (Pfor nonlinearity  = 0.85) dose-response manner.



Alcohol intake, especially beer, might be inversely associated with risk of Parkinson's disease
Vocational rehabilitation in early psychosis: cluster randomised trial.

Individual placement and support (IPS) is effective in helping patients return to work but is poorly implemented because of clinical ambivalence and fears of relapse.



To assess whether a motivational intervention (motivational interviewing) directed at clinical staff to address ambivalence about employment improved patients' occupational outcomes.



Two of four early intervention teams that already provided IPS were randomised to receive motivational interviewing training for clinicians, focused on attitudinal barriers to employment. 
Of 300 eligible participants, 159 consented to the research. Occupational outcomes were obtained for 134 patients (85%) at 12-month follow-up. More patients in the intervention teams than in the IPS-only teams achieved employment by 12 months (29/68 v. 12/66). A random effects logistic regression accounting for clustering by care coordinator, and adjusted for participants' gender, ethnicity, educational and employment history and clinical status scores, confirmed superiority of the intervention (odds ratio = 4.3, 95% CI 1.5-16.6).



Employment outcomes were enhanced by addressing clinicians' ambivalence about their patients returning to work.
Effects of visually demanding near work on trapezius muscle activity.

Poor visual ergonomics is associated with visual and neck/shoulder discomfort, but the relation between visual demands and neck/shoulder muscle activity is unclear. The aims of this study were to investigate whether trapezius muscle activity was affected by: (i) eye-lens accommodation; (ii) incongruence between accommodation and convergence; and (iii) presence of neck/shoulder discomfort. Sixty-six participants (33 controls and 33 with neck pain) performed visually demanding near work under four different trial-lens conditions. Results showed that eye-lens accommodation per se did not affect trapezius muscle activity significantly. However, when incongruence between accommodation and convergence was present, a significant positive relationship between eye-lens accommodation and trapezius muscle activity was found. There were no significant group-differences. It was concluded that incongruence between accommodation and convergence is an important factor in the relation between visually demanding near work and trapezius muscle activity. The relatively low demands on accommodation and convergence in the present study imply that visually demanding near work may contribute to increased muscle activity, and over time to the development of near work related neck/shoulder discomfort.
The validation of a clinical algorithm for the prevention and management of pulmonary dysfunction in intubated adults--a synthesis of evidence and expert opinion.

Pulmonary dysfunction (PDF) in intubated patients remains a serious and costly complication of intensive care unit care. Optimal cardiopulmonary therapy strategies to prevent and manage PDF need clarification to reduce practice variability. The purpose of this paper is to report on the content validation of an evidence-based clinical management algorithm (EBCMA) aimed at the prevention, identification and management of PDF in critically ill patients.



Forty-four draft algorithm statements extracted from the extant literature by the primary research team were verified and rated by research clinicians (n = 7) in an electronic three-round Delphi process. Statements which reached a priori defined consensus [semi-interquartile range (SIQR) <0.5] were collated into the EBCMA.



One hundred per cent response rate. Forty-four statements were added after round one. Consensus was reached on rating of 83% (73/88) statements. Differences in interpretation of the existing evidence base, and variations in accepted clinical practice were identified. Four themes were identified where panel failed to reach consensus.



The internationally agreed hierarchical framework of current available evidence and clinical expertise developed through this Delphi process provides clinicians with a tool to inform clinical practice. This tool has the potential to reduce practice variability thereby maximizing safety and treatment outcome. The clinical utility of the EBCMA requires further evaluation.
A clinical randomized trial to evaluate the safety of a noninvasive approach in high-risk patients undergoing major vascular surgery: the DECREASE-V Pilot Study.

The purpose of this research was to perform a feasibility study of prophylactic coronary revascularization in patients with preoperative extensive stress-induced ischemia.



Prophylactic coronary revascularization in vascular surgery patients with coronary artery disease does not improve postoperative outcome. If a beneficial effect is to be expected, then at least those with extensive coronary artery disease should benefit from this strategy.



One thousand eight hundred eighty patients were screened, and those with > or =3 risk factors underwent cardiac testing using dobutamine echocardiography (17-segment model) or stress nuclear imaging (6-wall model). Those with extensive stress-induced ischemia (> or =5 segments or > or =3 walls) were randomly assigned for additional revascularization. All received beta-blockers aiming at a heart rate of 60 to 65 beats/min, and antiplatelet therapy was continued during surgery. The end points were the composite of all-cause death or myocardial infarction at 30 days and during 1-year follow-up.



Of 430 high-risk patients, 101 (23%) showed extensive ischemia and were randomly assigned to revascularization (n = 49) or no revascularization. Coronary angiography showed 2-vessel disease in 12 (24%), 3-vessel disease in 33 (67%), and left main in 4 (8%). Two patients died after revascularization, but before operation, because of a ruptured aneurysm. Revascularization did not improve 30-day outcome; the incidence of the composite end point was 43% versus 33% (odds ratio 1.4, 95% confidence interval 0.7 to 2.8; p = 0.30). Also, no benefit during 1-year follow-up was observed after coronary revascularization (49% vs. 44%, odds ratio 1.2, 95% confidence interval 0.7 to 2.3; p = 0.48).



In this randomized pilot study, designed to obtain efficacy and safety estimates, preoperative coronary revascularization in high-risk patients was not associated with an improved outcome.
A replicated molecular genetic basis for subtyping antisocial behavior in children with attention-deficit/hyperactivity disorder.

Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous neurodevelopmental disorder that in some cases is accompanied by antisocial behavior.



To test if variations in the catechol O-methyltransferase gene (COMT) would prove useful in identifying the subset of children with ADHD who exhibit antisocial behavior.



Three independent samples composed of 1 clinical sample of ADHD cases and 2 birth cohort studies.



Participants in the clinical sample were drawn from child psychiatry and child health clinics in England and Wales. The 2 birth cohort studies included 1 sample of 2232 British children born in 1994-1995 and a second sample of 1037 New Zealander children born in 1972-1973.



Diagnosis of ADHD and measures of antisocial behavior.



We present replicated evidence that the COMT valine/methionine polymorphism at codon 158 (COMT Val158Met) was associated with phenotypic variation among children with ADHD. Across the 3 samples, valine/valine homozygotes had more symptoms of conduct disorder, were more aggressive, and were more likely to be convicted of criminal offenses compared with methionine carriers.



The findings confirm the presence of genetic heterogeneity in ADHD and illustrate how genetic information may provide biological evidence pointing to clinical subtypes.
The role of transperineal template prostate biopsies in restaging men with prostate cancer managed by active surveillance.

To evaluate the role of transperineal template prostate biopsies in men on active surveillance.



In all, 101 men on active surveillance for prostate cancer underwent restaging transperineal template prostate biopsies at a single centre. Criteria for active surveillance were ≤75 years, Gleason ≤3+3, prostate-specific antigen (PSA) ≤15 ng/mL, clinical stage T1-2a and ≤50% ultrasound-guided transrectal biopsy cores positive for cancer with ≤10 mm of disease in a single core. The number of men with an increase in disease volume or Gleason grade on transperineal template biopsy and the number of men who later underwent radical treatment were assessed. The role of PSA and PSA kinetics were studied.



In all, 34% of men had more significant prostate cancer on restaging transperineal template biopsies compared with their transrectal biopsies. Of these men, 44% had disease predominantly in the anterior part of the gland, an area often under-sampled by transrectal biopsies. In the group of men who had their restaging transperineal template biopsies within 6 months of commencing active surveillance 38% had more significant disease. There was no correlation with PSA velocity or PSA doubling time. In total, 33% of men stopped active surveillance and had radical treatment.



Around one-third of men had more significant prostate cancer on transperineal template biopsies. This probably reflects under-sampling by initial transrectal biopsies rather than disease progression.
Discrepancy of target sites between clinician and cytopathological reports in head neck fine needle aspiration: Did I miss the target or did the clinician mistake the organ site?

The diagnostic accuracy of fine needle aspiration cytology (FNAC) of head and neck lesions is relatively high, but cytologic interpretation might be confusing if the sample is lacking typical cytologic features according to labeled site by physician. These errors may have an impact on pathology search engines, healthcare costs or even adverse outcomes. The cytology archive database of multiple institutions in southern Iran and Australia covering the period 2001-2011, were searched using keywords: salivary gland, head, neck, FNAC, and cytology. All the extracted reports were reviewed. The reports which showed discordance between the clinician's impression of the organ involved and subsequent fine needle biopsy request, and the eventual cytological diagnosis were selected. The cytological diagnosis was confirmed by histology or cell block, with assistance from imaging, clinical outcome, physical examination, molecular studies, or microbiological culture. The total number of 10,200 head and neck superficial FNAC were included in the study, from which 48 cases showed discordance between the clinicians request and the actual site of pathology. Apart from the histopathology, the imaging, clinical history, physical examination, immunohistochemical study, microbiologic culture and molecular testing helped to finalize the target organ of pathology in 23, 6, 7, 8, 2, and 1 cases respectively. The commonest discrepancies were for FNAC of "salivary gland" , soft tissue (5), lymph node (3), odontogenic (3) and skin (2)], "lymph node" [total: 12 with final pathology in: soft tissue (3), skin (3), bone (1) and brain (1)], "soft tissue" [total: 11 with final pathology in: bone (5), skin (2), salivary gland (1), and ocular region (1)] and "skin" [total: 5 with final pathology in: lymph node (2), bone (1), soft tissue (1) and salivary gland (1)]. The primary physician requesting FNAC of head and neck lesions are incorrect in their clinical impression of the actual site in nearly 0.5 percent of cases, due to the overlapping clinical and imaging findings or possibly due to inadequate history taking or physical examination.
Regular exercise during pregnancy to prevent gestational diabetes: a randomized controlled trial.

To assess whether exercise during pregnancy can prevent gestational diabetes and improve insulin resistance.



A total of 855 women in gestational week 18-22 were randomly assigned to receiving a 12-week standard exercise program (intervention group) or standard antenatal care (control group). The exercise program followed standard recommendations and included moderate-intensity to high-intensity activity 3 or more days per week. Primary outcomes were gestational diabetes and insulin resistance estimated by the homeostasis model assessment method. For the power calculation, we assumed a gestational diabetes prevalence of 9% in the control group and a prevalence of 4% in the exercise group (risk difference of 5%). Under these assumptions, a two-sample comparison with a 5% level of significance and power of 0.80 gave a study population of 381 patients in each group.



At 32-36 weeks of gestation there were no differences between groups in prevalence of gestational diabetes: 25 of 375 (7%) in the intervention group compared with 18 of 327 (6%) in the control group (P=.52). There were no differences in insulin resistance between groups when adjusting for baseline values. Only 55% of women in the intervention group managed to follow the recommended exercise protocol. No serious adverse events related to physical exercise were seen, and the outcomes of pregnancy were similar in the two groups.



There was no evidence that offering women a 12-week standard exercise program during the second half of pregnancy prevents gestational diabetes or improves insulin resistance in healthy pregnant women with normal body mass indexes.
A prospective study of febrile neutropenia in pediatric cancer patients in Jordan.

To describe the characteristics and clinical course of febrile neutropenia (FN) in pediatric patients admitted to a comprehensive cancer center in Jordan.



This is a 6-month prospective observational study. Patients admitted with FN were identified. Patient demographics, duration since last chemotherapy, use of granulocyte colony-stimulating factor, presence of central lines, transfer to the intensive care unit, length of hospital stay, mortality, and the results of all cultures were recorded.



One hundred and nine episodes for 88 patients were included, with a median age of 6 years (range, 1 to 19 y) and 55% were females. Median duration since last chemotherapy was 7 days (range, 1 to 33 d); median duration of hospital stay was 7 days (range, 1 to 81 d). Transfer to the intensive care unit was required for 11% of episodes, and there were no deaths. Positive cultures were reported in 18.4% episodes. Pathogens isolated were gram-positive organisms (50%), gram-negative organisms (20%), viral (25%), and fungal (5%). Positive blood cultures were significantly more in episodes with central lines compared with those with no central lines (P=0.04).



FN episodes had favorable outcomes and were mostly associated with negative cultures. There were differences between the microbiologic profiles reported in this study, compared with what has been previously described.
Association of insulin resistance with salt sensitivity and nocturnal fall of blood pressure.

Insulin resistance was demonstrated in hypertensive patients and in salt-sensitive subjects. It was recently reported that the salt-sensitive state was related to a reduced fall in blood pressure during the night in essential hypertension. In the present study, the relationship among insulin sensitivity, blood pressure response to salt intake, and nocturnal fall in blood pressure was examined in 20 subjects with nondiabetic and nonobese essential hypertension during a low-salt and a high-salt diet. The subjects were maintained on a low-salt diet (50 mmol/d) and a high-salt diet (255 mmol/d) for 1 week each, in random order. On the sixth day of each diet, blood pressure was measured every hour for 24 hours with an automatic device. Insulin sensitivity was measured according to the steady-state plasma glucose (SSPG) method on the seventh day of each diet. Salt-induced increase in blood pressure, which we defined as the change in 24-hour mean arterial pressure between the low and the high dietary salt intakes, was significantly correlated with SSPG (r=0.60, P<0.01) during the high-salt period. There was a significant negative correlation (r=-0.61, P<0.01) between SSPG and a nocturnal fall in mean arterial pressure during the high-salt period. Salt-induced increase in blood pressure was inversely correlated with a nocturnal fall in mean arterial pressure (r=-0.52, P<0.02) with the high-salt diet. These results suggest that insulin resistance, salt sensitivity, and failed nocturnal fall in blood pressure are associated with each other in subjects with essential hypertension.
Cognitive behaviour therapy for adolescent offenders with mental health problems in custody.

Many studies have identified high levels of mental health problems among adolescents in custody and there is increasing evidence that mental health problems in this population are associated with further offending and mental health problems into adulthood. Despite recent improvements in mental health provision within custodial settings there is little evidence of structured interventions being offered or of their effectiveness being evaluated. A cognitively based intervention was developed and offered to adolescents with a variety of mental health problems in different secure settings, and the outcomes compared with a control group. Although this small-scale study did not identify significant differences in outcomes for the two groups, both recruitment and retention in therapy were good, and potential candidates were not excluded on the basis of learning difficulties or co-morbidity. The study demonstrated the viability of a delivering cognitively based intervention for common mental health problems within secure settings.
Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients

Molecular portraits of numerous tumors have flooded oncologists with vast amounts of data. In parallel, effective inhibitors of central pathways have shown great clinical benefit. Together, this promises potential clinical benefits to otherwise end-stage cancer patients. Here, we report a clinical service offering mutation detection of archived samples using the ion Ampliseq cancer panel coupled with clinical consultation.A multidisciplinary think tank consisting of oncologists, molecular-biologists, genetic counselors, and pathologists discussed 67 heavily pretreated, advanced cancer patient cases, taking into account mutations identified using ion Ampliseq cancer panel, medical history, and relevant literature.The team generated a treatment plan, targeting specific mutations, for 41 out of 64 cases. Three patients died before results were available. For 32 patients, the treating oncologists chose not to include the panel recommendation in the treatment plan for various reasons. Nine patients were treated as recommended by the panel, 5 with clinical benefit, and 4 with disease progression.This study suggests that routine use of massive parallel tumor sequencing is feasible and can judiciously affect treatment decisions when coupled with multidisciplinary team-based decision making. Administration of personalized based therapies at an earlier stage of disease, expansion of genetic alterations examined, and increased availability of targeted therapies may lead to further improvement in the clinical outcome of metastatic cancer patients.