bluuebunny/crossref_metadata_2025_split huggingface dataset:
The risk of Parkinson's disease in type 1 Gaucher disease
Authors: Bultron Gilberto , Kacena Katherine , Pearson Daniel , Boxer Michael , Yang Ruhua , Sathe Swati , Pastores Gregory , Mistry Pramod K. 
Published: February 2010

AbstractIn Gaucher disease, defective lysosomal glucocerebrosidase due to mutations in the GBA1 gene results in lysosomal accumulation of glucocerebroside in mononuclear phagocytes and a multisystemic phenotype. Observations of occurrence of Parkinson's disease in some patients with non‐neuronopathic type 1 Gaucher disease (GD1) and their first degree relatives has led to the identification of GBA1 heterozygous mutations as a genetic risk factor for idiopathic Parkinson's disease (PD). However, the magnitude of risk of PD in patients with known GD1 has not been determined, and it is not known whether GD1/PD represents a specific sub‐phenotype of GD1 with distinctive genotype/phenotype characteristics. We estimated the risk of PD in a cohort of 444 consecutively evaluated patients with GD1 compared to that in the general population. Eleven patients developed parkinsonian syndrome during a 12‐year follow‐up period. The adjusted life‐time risk ratio of PD in GD1 compared to that in the general population was 21.4 [95% confidence interval (95% CI) 10.7–38.3], with a higher risk in men compared to women. In our cohort, GD1/Parkinson's disease phenotype (GD1/PD) was characterized by higher GD1 severity score, due to higher incidence of avascular osteonecrosis. The clinical spectrum of PD varied from mild to potentially life‐threatening disease. All but one patient with GD1/PD phenotype had at least one N370S GBA1 allele. In conclusion, compared to the general population, patients with GD1 have an almost 20‐fold increased life‐time risk of developing PD.
Successful Control of an Outbreak ofKlebsiella pneumoniaeCarbapenemase—ProducingK. pneumoniaeat a Long-Term Acute Care Hospital
Authors: Munoz-Price L. Silvia , Hayden Mary K. , Lolans Karen , Won Sarah , Calvert Karen , Lin Michael , Sterner Alexander , Weinstein Robert A. 
Published: February 2010

Objective.To determine the effect of a bundle of infection control interventions on the horizontal transmission ofKlebsiella pneumoniaecarbapenemase (KPC)-producingK. pneumoniaeduring an outbreak.Design.Quasi-experimental study.Setting.Long-term acute care hospital.Intervention.On July 23,2008, a bundled intervention was implemented: daily 2% Chlorhexidine gluconate baths for patients, enhanced environmental cleaning, surveillance cultures at admission, serial point prevalence surveillance (PPS), isolation precautions, and training of personnel. Baseline PPS was performed before the intervention was implemented. Any gram-negative rod isolate suspected of KPC production underwent a modified Hodge test and, if results were positive, confirmatory polymerase chain reaction testing. Clinical cases were defined to occur for patients whose samples yielded KPC-positive gram-negative rods in clinical cultures.Results.Baseline PPS performed on June 17, 2008, showed a prevalence of colonization with KPC-producing isolates of 21% (8 of 39 patients screened). After implementation of the intervention, monthly PPS was performed 5 times, which showed prevalences of colonization with KPC-producing isolates of 12%, 5%, 3%, 0%, and 0% (P< .001). From January 1, 2008, until the intervention, 8 KPC-positive clinical cases—suspected to be due to horizontal transmission—were detected. From implementation of the intervention through December 31, 2008, only 2 KPC-positive clinical cases, both in August 2008, were detected. From January 1 through December 31, 2008, 8 patients were detected as carriers of KPC-producing isolates at admission to the institution, 4 patients before and 4 patients after the intervention.Conclusion.A bundled intervention was successful in preventing horizontal spread of KPC-producing gram-negative rods in a long-term acute care hospital, despite ongoing admission of patients colonized with KPC producers.
Long‐term dynamics of submerged macrophytes and algae in a small and shallow, eutrophic lake: implications for the stability of macrophyte‐dominance
Authors: SAYER CARL D. , BURGESS AMY , KARI KATERINA , DAVIDSON THOMAS A. , PEGLAR SYLVIA , YANG HANDONG , ROSE NEIL 
Published: February 2010

Summary1. Submerged macrophyte and phytoplankton components of eutrophic, shallow lakes have frequently undergone dynamic changes in composition and abundance with important consequences for lake functioning and stability. However, because of a paucity of long‐term survey data, we know little regarding the nature, direction and sequencing of such changes over decadal–centennial or longer timescales.2. To circumvent this problem, we analysed multiple (n = 5) chronologically correlated sediment cores for plant macro‐remains and a single core for pollen and diatoms from one small, shallow, English lake (Felbrigg Hall Lake, Norfolk, U.K.), documenting 250 years of change to macrophyte and algal communities.3. All five cores showed broadly similar stratigraphic changes in macrophyte remains with three distinct phases of macrophyte development: Myriophyllum–Chara–Potamogeton (c. pre‐1900), to Ceratophyllum–Chara–Potamogeton (c. 1900–1960) and finally to Zannichellia–Potamogeton (c. post‐1960). Macrophyte species richness declined from at least 10 species pre‐1900 to just four species at the present day. Additionally, in the final Zannichellia–Potamogeton phase, a directional shift between epi‐benthic and phytoplankton‐based primary production was indicated by the diatom data.4. Based on macrophyte–seasonality relationships established for the region, concomitant with the final shift to Zannichellia–Potamogeton, we infer a reduction in the seasonal duration of plant dominance (plant‐covered period). Furthermore, we hypothesise that this change in species composition resulted in a situation whereby macrophyte populations were seasonally ‘sandwiched’ between two phytoplankton peaks in spring and late summer as observed in the contemporary lake.5. We suggest that eutrophication‐induced reductions in macrophyte species richness, especially if the number of plant‐seasonal strategies is reduced, may constrict the plant growing season. In turn, this may render a shallow lake increasingly vulnerable to seasonal invasions of phytoplankton resulting in further species losses in the plant community. Thus, as part of a slow (over perhaps 10–100s of years) and self‐perpetuating process, macrophytes may be gradually pushed out by phytoplankton without the need for a perturbation as required in the alternative stable states model of plant loss.
No overall stimulation of soil respiration under mature deciduous forest trees after 7 years of CO2 enrichment
Authors: BADER MARTIN K.‐F. , KÖRNER CHRISTIAN 
Published: February 2010

AbstractThe anthropogenic rise in atmospheric CO2 is expected to impact carbon (C) fluxes not only at ecosystem level but also at the global scale by altering C cycle processes in soils. At the Swiss Canopy Crane (SCC), we examined how 7 years of free air CO2 enrichment (FACE) affected soil CO2 dynamics in a ca. 100‐year‐old mixed deciduous forest. The use of 13C‐depleted CO2 for canopy enrichment allowed us to trace the flow of recently fixed C. In the 7th year of growth at ∼550 ppm CO2, soil respiratory CO2 consisted of 39% labelled C. During the growing season, soil air CO2 concentration was significantly enhanced under CO2‐exposed trees. However, elevated CO2 failed to stimulate cumulative soil respiration (Rs) over the growing season. We found periodic reductions as well as increases in instantaneous rates of Rs in response to elevated CO2, depending on soil temperature and soil volumetric water content (VWC; significant three‐way interaction). During wet periods, soil water savings under CO2‐enriched trees led to excessive VWC (>45%) that suppressed Rs. Elevated CO2 stimulated Rs only when VWC was ≤40% and concurrent soil temperature was high (>15 °C). Seasonal Q10 estimates of Rs were significantly lower under elevated (Q10=3.30) compared with ambient CO2 (Q10=3.97). However, this effect disappeared when three consecutive sampling dates of extremely high VWC were disregarded. This suggests that elevated CO2 affected Q10 mainly indirectly through changes in VWC. Fine root respiration did not differ significantly between treatments but soil microbial biomass (Cmic) increased by 14% under elevated CO2 (marginally significant). Our findings do not indicate enhanced soil C emissions in such stands under future atmospheric CO2. It remains to be shown whether C losses via leaching of dissolved organic or inorganic C (DOC, DIC) help to balance the C budget in this forest.
High Notch1 protein expression is an early event in breast cancer development and is associated with the HER‐2 molecular subtype
Authors: Zardawi Sarah J , Zardawi Ibrahim , McNeil Catriona M , Millar Ewan K A , McLeod Duncan , Morey Adrienne L , Crea Paul , Murphy Niamh C , Pinese Mark , Lopez‐Knowles Elena , Oakes Samantha R , Ormandy Christopher J , Qiu Min Ru , Hamilton Anne , Spillane Andrew , Soon Lee Cheok , Sutherland Robert L , Musgrove Elizabeth A , O’Toole Sandra A 
Published: February 2010

Zardawi S J, Zardawi I, McNeil C M, Millar E K A, McLeod D, Morey A L, Crea P, Murphy N C, Pinese M, Lopez‐Knowles E, Oakes S R, Ormandy C J, Qiu M R, Hamilton A, Spillane A, Soon Lee C, Sutherland R L, Musgrove E A & O’Toole S A (2010) Histopathology56, 286–296 High Notch1 protein expression is an early event in breast cancer development and is associated with the HER‐2 molecular subtype Aims:  Activation of Notch signalling results in hyperplasia and tumorigenesis in murine mammary epithelium. However, there is little information regarding the expression of Notch1 in premalignant lesions and early breast cancer. We investigated expression of Notch1 in breast cancer development and its association with molecular subtypes.Methods and results:  Immunohistochemical expression of Notch1 was determined in a murine model of mammary carcinogenesis and in breast tissue from two cohorts of breast cancer patients, the first (n = 222) comprising a histological progression series and the second an outcome series of 228 patients with operable invasive ductal carcinoma. Enhanced expression of Notch1 protein was an early event in both murine and human breast cancer development with progressive increases in expression with the development of hyperplasia and malignancy. High Notch1 was not prognostic in the outcome cohort. There was, however, a highly significant association of high Notch1 protein with the HER‐2 molecular subtype of breast cancer (P = 0.008).Conclusions:  These data demonstrate that aberrant Notch regulation is an early event in mammary carcinogenesis and is associated with the HER‐2 molecular subtype of breast cancer, and suggest the Notch signalling pathway may be a potential therapeutic target worthy of further investigation.
Small cell carcinoma of the lung and large cell neuroendocrine carcinoma interobserver variability
Authors: Den Bakker Michael A , Willemsen Sten , Grünberg Katrien , Noorduijn L Arnold , Van Oosterhout Matthijs F M , Van Suylen Robert J , Timens Wim , Vrugt Bart , Wiersma‐van Tilburg Anne , Thunnissen Frederik B J M 
Published: February 2010

den Bakker M A, Willemsen S, Grünberg K, Noorduijn L A, van Oosterhout M F M, van Suylen R J, Timens W, Vrugt B, Wiersma‐van Tilburg A & Thunnissen F B J M (2010) Histopathology56, 356–363 Small cell carcinoma of the lung and large cell neuroendocrine carcinoma interobserver variability Aims:  To test the hypothesis that the published morphological criteria permit reliable segregation of small cell carcinoma of the lung (SCLC) and large cell neuroendocrine carcinoma (LCNEC) cases by determining the interobserver variation.Methods and results:  One hundred and seventy cases of SCLC, LCNEC and cases diagnosed as neuroendocrine lung carcinoma before LCNEC had been established as a diagnostic category were retrieved from the archives of the assessor’s institutes. A representative haematoxylin and eosin section from each case was selected for review. Batches of cases were circulated among nine pathologists with a special interest in pulmonary pathology. Participants were asked to classify the cases histologically according to the 2004 World Health Organization (WHO) criteria. The diagnoses were collected and κ values calculated. Unanimity of diagnosis was achieved for only 20 cases; a majority diagnosis was reached for 115 cases. In 35 cases no consensus diagnosis could be reached. There was striking variability amongst assessors in diagnosing SCLC and LCNEC. The overall level of agreement for all cases included in this study was fair (κ = 0.40).Conclusions:  Using non‐preselected cases, the morphological WHO criteria for diagnosing SCLC and LCNEC leave room for subjective pathological interpretation, which results in imprecise categorization of SCLC and LCNEC cases.
Assessing reported adherence to pharmacological treatment recommendations. Translation and evaluation of the Medication Adherence Report Scale (MARS) in Germany
Authors: Mahler Cornelia , Hermann Katja , Horne Rob , Ludt Sabine , Haefeli Walter Emil , Szecsenyi Joachim , Jank Susanne 
Published: February 2010

AbstractObjectives  Patients' self‐report of medicine taking is a feasible method of assessing their adherence to prescribed pharmacological treatment. Aim of this study was to assess whether the German version of the Medication Adherence Report Scale (MARS‐D) is an appropriate instrument for measuring patient adherence.Methods  After translation into German, the questionnaire was sent to 1488 patients with chronic diseases and patients with risk factors of cardiovascular disease. Reliability and validity of the MARS‐D were assessed and compared with the psychometric properties of the original English version. The relationship between patients' characteristics and adherent behaviour was estimated using bivariate correlation and a linear regression model.Results  The MARS‐D was analysed if patients were taking medicines and the MARS‐D was complete leaving 523 (35.1%) analysable questionnaires. Internal consistency of the MARS‐D (Cronbach's α 0.60–0.69) was satisfactory and comparable to the English original (Cronbach's α 0.69–0.90). Test–retest reliability was satisfactory (Pearson's r 0.61–0.63), however, lower than in the English sample (r = 0.97). Convergent validity was low but showed statistical significance. Patient socio‐demographic characteristics had weak influence on MARS‐D score indicating high reported adherence for older patients (P < 0.05), patients with German mother tongue (P < 0.05) and high number of medicines (P < 0.01).Conclusions  Preliminary psychometric evaluation of the MARS‐D is encouraging. MARS‐D is an appropriate measure to detect patients at risk of non‐adherence. The MARS‐D could be used in routine care to support communication about the medication taking behaviour, as self‐report of non‐adherent behaviour corresponds to the facts.
Psychosocial impact of Von Hippel–Lindau disease: levels and sources of distress
Authors: Lammens CRM , Bleiker EMA , Verhoef S , Hes FJ , Ausems MGEM , Majoor‐Krakauer D , Sijmons RH , Van Der Luijt RB , Van Den Ouweland AMW , Van Os Tam , Hoogerbrugge N , Gómez García EB , Dommering CJ , Gundy CM , Aaronson NK 
Published: February 2010

Lammens CRM, Bleiker EMA, Verhoef S, Hes FJ, Ausems MGEM, Majoor‐Krakauer D, Sijmons RH, Luijt van der RB, Ouweland van den AMW, Van Os Tam, Hoogerbrugge N, Gomez‐Garcia EB, Dommering CJ, Gundy CM, Aaronson NK. Psychosocial impact of von Hippel–Lindau disease: levels and sources of distress.Von Hippel–Lindau disease (VHL) is a hereditary tumor susceptibility syndrome, characterized by an increased risk of developing multiple benign and malignant tumors at various sites and ages with limited preventive options. This study evaluates the prevalence of distress among VHL family members and factors associated significantly with such distress.Forty‐eight families with a VHL mutation were identified via the nine family cancer clinics in the Netherlands. In total, 171 family members (carriers, 50% at‐risk, non‐carriers) were approached, of whom 123 (72%) completed a self‐report questionnaire. Approximately 40% of the VHL family members reported clinically relevant levels of distress, approaching 50% among the carriers and, possibly even more striking, 36% among the non‐carriers. Having lost a first degree relative due to VHL during adolescence (OR 11.2; 95% CI 1.4–86.9) was related significantly to heightened levels of distress. Approximately, only one‐third of those who reported heightened levels of distress had received professional psychosocial support. A substantial percentage of family members experience clinically relevant levels of distress. We would recommend the introduction of a procedure for screening for distress in this vulnerable population. Special attention should be paid to those individuals who have lost a close relative due to VHL during adolescence.
Biological structures as a source of habitat heterogeneity and biodiversity on the deep ocean margins
Authors: Buhl‐Mortensen Lene , Vanreusel Ann , Gooday Andrew J. , Levin Lisa A. , Priede Imants G. , Buhl‐Mortensen Pål , Gheerardyn Hendrik , King Nicola J. , Raes Maarten 
Published: February 2010

AbstractBiological structures exert a major influence on species diversity at both local and regional scales on deep continental margins. Some organisms use other species as substrates for attachment, shelter, feeding or parasitism, but there may also be mutual benefits from the association. Here, we highlight the structural attributes and biotic effects of the habitats that corals, sea pens, sponges and xenophyophores offer other organisms. The environmental setting of the biological structures influences their species composition. The importance of benthic species as substrates seems to increase with depth as the complexity of the surrounding geological substrate and food supply decline. There are marked differences in the degree of mutualistic relationships between habitat‐forming taxa. This is especially evident for scleractinian corals, which have high numbers of facultative associates (commensals) and few obligate associates (mutualists), and gorgonians, with their few commensals and many obligate associates. Size, flexibility and architectural complexity of the habitat‐forming organism are positively related to species diversity for both sessile and mobile species. This is mainly evident for commensal species sharing a facultative relationship with their host. Habitat complexity is enhanced by the architecture of biological structures, as well as by biological interactions. Colony morphology has a great influence on feeding efficiency for suspension feeders. Suspension feeding, habitat‐forming organisms modify the environment to optimize their food uptake. This environmental advantage is also passed on to associated filter‐feeding species. These effects are poorly understood but represent key points for understanding ecosystems and biodiversity on continental margins. In this paper we explore the contributions of organisms and the biotic structures they create (rather than physical modifications) to habitat heterogeneity and diversity on the deep continental margins.
Deep‐water macrofaunal diversity in the Faroe‐Shetland region (NE Atlantic): a margin subject to an unusual thermal regime
Authors: Narayanaswamy Bhavani E. , Bett Brian J. , Hughes David J. 
Published: February 2010

AbstractThe Faroe‐Shetland Channel, situated in the NE Atlantic, encompasses a number of different sediment types (habitats) as well as being subject to an unusual thermal regime. Our main objective was to assess variations in macrofaunal generic diversity and composition along two transects to gauge the relative influence of regional hydrography and local habitat heterogeneity. We found that generic richness and diversity on a West of Shetland (WoS) transect correlated most strongly with temperature range, whilst along a North of Shetland (NoS) transect, richness and diversity correlated negatively with sedimentary variables, notably total organic carbon. Macrofaunal composition at WoS is also strongly influenced by water temperature with specific genera (e.g. Galathowenia positively associated with the temperature eigenvectors), whereas at NoS it is a combination of temperature, silt + clay fraction and total organic carbon that has an impact on composition (e.g. Proclea and Pseudosphyrapus, showing a negative relationship with the temperature eigenvectors). Although the temperature regime exerts a strong control on regional ecology, local habitat heterogeneity remains a significant factor.
Tension‐free vaginal mesh procedure for pelvic organ prolapse: A single‐center experience of 310 cases with 1‐year follow up
Authors: Takahashi Satoru , Obinata Daisuke , Sakuma Takahiro , Nagane Yusuke , Sato Katsuhiko , Mochida Junichi , Ichinose Taketo , Yamaguchi Kenya 
Published: February 2010

Objective:  To prospectively evaluate the efficacy of a tension‐free vaginal mesh (TVM) procedure for pelvic organ prolapse (POP).Methods:  Between December 2005 and April 2008, 310 female patients (mean age 67.2 years, range 42–84) with POP underwent TVM procedures at our institute. Fifty‐six individuals were qualified as stage 2 according to the POP quantification system and 162 and 92 were stage 3 and 4, respectively. One hundred ninety‐one patients underwent anterior TVM, and seven underwent posterior TVM. One hundred twelve cases underwent both anterior and posterior TVM procedures. Each patient was systematically assessed at 1, 3, 6 and 12 months after surgery. Quality of life (QOL) was also assessed by using the Short Form‐36 and the prolapse‐QOL questionnaires.Results:  Perioperative complications were the following: five bladder injuries (1.6%), no rectal injuries and three hemorrhages greater than 400 mL (1.0%). The anatomical cure rate (% stage 0 cases) at 3, 6 and 12 months after surgery were 94.1%, 93.5%, and 92.3%, respectively. Short Form‐36 and prolapse‐QOL parameters were significantly improved, and maintained during the follow‐up period. Postoperative complications were the following: five pelvic hematomas (1.6%), one wound infection (0.3%), 10 vaginal mesh extrusions (3.2%), and three cases of pelvic pain (1.0%). Complications concerning lower urinary tract function were: eight cases of postoperative stress urinary incontinence (2.6%), three cases of transient urinary retention (1.0%), and two cases of de novo overactive bladder (0.6%).Conclusions:  The TVM procedure provides a good outcome at 1 year with a low incidence of surgical complications and recurrence. Further evaluation with a longer follow up is needed.
Monitoring and evaluation of refractive error and presbyopia for Vision 2020
Authors: Brian Garry , Du Toit Rènée , Ramke Jacqueline , Palagyi Anna 
Published: February 2010

AbstractPurpose:  To develop output and outcome indicators for the correction of refractive error and presbyopia to a level comparable with those advocated by Vision 2020 for cataract.Methods:  World Health Organization, Vision 2020 and published eye care intervention literature were searched to find evidence of best practice. This information was used to construct a suite of indicators for monitoring the correction of refractive error and presbyopia.Results:  Indicators for the monitoring and evaluation of refractive error and presbyopia correction were proposed, addressing refraction and spectacle dispensing outputs and rates, and refractive error correction and presbyopia correction coverage.Conclusion:  Using data collection that should be occurring in everyday clinical practice, the proposed indicators would provide more comprehensive information than those currently suggested by Vision 2020. As such, they would be more useful in the monitoring and evaluation of the correction of refractive error and presbyopia in the context of Vision 2020.