bluuebunny/crossref_metadata_2025_split huggingface dataset:
Serum Sclerostin Levels Are Decreased in Adult Patients With Different Types of Osteogenesis Imperfecta
Authors: Kocijan Roland , Muschitz Christian , Fahrleitner-Pammer Astrid , Amrein Karin , Pietschmann Peter , Haschka Judith , Dinu Sebastian , Kapiotis Stylianos , Resch Heinrich 
Published: November 2013

Context:
There are no specific biochemical bone markers available for osteogenesis imperfecta (OI), and the role of sclerostin as a key regulator of bone formation in OI is unknown.

Objectives:
We aimed to evaluate the role of sclerostin and its association with bone turnover markers as well as body composition parameters in adult patients with different types of OI.

Design, Setting, and Participants:
This was a case-control study in 27 adult patients and 50 healthy age- and gender-matched controls.

Main Outcome Measures:
Serum sclerostin levels and bone turnover markers including serum osteocalcin, amino terminal propeptide of type I procollagen, and CrossLaps as well as body composition parameters were determined in mild OI stage I (OI-I) and moderate-severe OI stages III-IV (OI-III-IV), according to Sillence classification. Data were compared with healthy controls.

Results:
Sclerostin levels were significantly lower in OI-I (19.9 ± 10.9 pmol/L; P &lt; .001) and OI-III-IV (13.3 ± 10.0 pmol/L; P &lt; .001) compared with healthy adults (45.3 ± 14.9 pmol/L), even after adjustment for age, sex, bone mineral content, and body mass index. CrossLaps and PTH were significantly lower in OI-I (0.197 ± 0.15 ng/L; P = .007 and 33.7 ± 19.1 pg/L; P = .033, respectively) and OI-III-IV (0.221 ± 0.18 ng/L; P = .039, and 27.9 ± 14.7 pg/L; P = .001, respectively) than in healthy controls (0.322 ± 0.15 ng/L and 45.0 ± 16.6 pg/L). Amino-terminal propeptide of type I procollagen was below the reference range for OI-I and OI-III-IV. Patients with OI were shorter and lighter and had a decreased bone mineral content (P &lt; .001) but similar fat distribution and lean body mass, compared with controls. Serum sclerostin levels were not related to any bone marker except osteocalcin, the number of prevalent fractures, or body composition readings.

Conclusion:
Decreased sclerostin levels in OI might reflect a down-regulation or negative feedback mechanism to prevent further bone loss.
Jump Power and Force Have Distinct Associations With Cortical Bone Parameters: Findings From a Population Enriched by Individuals With High Bone Mass
Authors: Hardcastle Sarah A. , Gregson Celia L. , Rittweger Jörn , Crabtree Nicola , Ward Kate , Tobias Jon H. 
Published: November 2013

Context:
Little is known of the relationships between muscle function and bone, based on the recently developed technique of jumping mechanography.

Objective:
Our objective was to determine associations between peak ground reaction force and peak power during a 1-legged hopping test and a single 2-legged jump, respectively, and cortical bone parameters.

Design and Setting:
This was a cross-sectional observational study in participants from the high bone mass cohort.

Participants:
Participants included 70 males (mean age 58 years) and 119 females (mean age 56 years); high bone mass cases and controls were pooled.

Main Outcome Measures:
Total hip bone mineral density (BMD) (measured by dual-energy x-ray absorptiometry scanning) and mid-tibial peripheral quantitative computed tomography (Stratec XCT2000L).

Results:
Jump power was positively related to hip BMD (standardized β [95% confidence interval] = 0.29 [0.07, 0.51], P = .01), but hopping force was not (0.03 [−0.16, 0.22], P = .74) (linear regression analysis adjusted for age, gender, height, and weight). In 113 participants with force and peripheral quantitative computed tomography data, both jump power and hopping force were positively associated with tibial strength strain index (0.26 [0.09, 0.44], P &lt; .01; and 0.24 [0.07, 0.42], P = .01 respectively). Although hopping force was positively associated with bone size (total bone area 0.22 [0.03, 0.42], P = .02), jump power was not (0.10 [−0.10, 0.30], P = .33). In contrast, jump power was inversely associated with endocortical circumference adjusted for periosteal circumference (−0.24 [−0.40, −0.08], P &lt; .01) whereas no association was seen for hopping force (−0.10 [−0.26, 0.07], P = .24).

Conclusions:
Although power and force are both positively associated with cortical bone strength, distinct mechanisms appear to be involved because power was primarily associated with reduced endocortical expansion (reflected by endocortical circumference adjusted for periosteal circumference, and hip BMD), whereas force was associated with increased periosteal expansion (reflected by total bone area).
Top Single Nucleotide Polymorphisms Affecting Carbohydrate Metabolism in Metabolic Syndrome: From the LIPGENE Study
Authors: Delgado-Lista Javier , Perez-Martinez Pablo , Solivera Juan , Garcia-Rios Antonio , Perez-Caballero A. I. , Lovegrove Julie A. , Drevon Christian A. , Defoort Catherine , Blaak Ellen E. , Dembinska-Kieć Aldona , Risérus Ulf , Herruzo-Gomez Ezequiel , Camargo Antonio , Ordovas Jose M. , Roche Helen , Lopez-Miranda José 
Published: November 2013

Rationale:
Metabolic syndrome (MetS) is a high-prevalence condition characterized by altered energy metabolism, insulin resistance, and elevated cardiovascular risk.

Objectives:
Although many individual single nucleotide polymorphisms (SNPs) have been linked to certain MetS features, there are few studies analyzing the influence of SNPs on carbohydrate metabolism in MetS.

Methods:
A total of 904 SNPs (tag SNPs and functional SNPs) were tested for influence on 8 fasting and dynamic markers of carbohydrate metabolism, by performance of an intravenous glucose tolerance test in 450 participants in the LIPGENE study.

Findings:
From 382 initial gene-phenotype associations between SNPs and any phenotypic variables, 61 (16% of the preselected variables) remained significant after bootstrapping. Top SNPs affecting glucose metabolism variables were as follows: fasting glucose, rs26125 (PPARGC1B); fasting insulin, rs4759277 (LRP1); C-peptide, rs4759277 (LRP1); homeostasis assessment of insulin resistance, rs4759277 (LRP1); quantitative insulin sensitivity check index, rs184003 (AGER); sensitivity index, rs7301876 (ABCC9), acute insulin response to glucose, rs290481 (TCF7L2); and disposition index, rs12691 (CEBPA).

Conclusions:
We describe here the top SNPs linked to phenotypic features in carbohydrate metabolism among approximately 1000 candidate gene variations in fasting and postprandial samples of 450 patients with MetS from the LIPGENE study.
Impaired embryonic motility indusp27mutants reveals a developmental defect in myofibril structure
Authors: Fero Kandice , Bergeron Sadie A. , Horstick Eric J. , Codore Hiba , Li Grace H. , Ono Fumihito , Dowling James J. , Burgess Harold A. 
Published: November 2013

SummaryAn essential step in muscle fiber maturation is the assembly of highly ordered myofibrils that are required for contraction. Much remains unknown about the molecular mechanisms governing the formation of the contractile apparatus. We identified an early embryonic motility mutant in zebrafish caused by integration of a transgene into the pseudophosphatase dual specificity phosphatase 27 (dusp27). Dusp27 mutants exhibit near complete paralysis at embryonic and larval stages, producing extremely low levels of spontaneous coiling movements and a greatly diminished touch response. Loss of dusp27 does not prevent somitogenesis but results in severe disorganization of the contractile apparatus in muscle fibers. Sarcomeric structures in mutants are almost entirely absent and only rare triads are observed. These findings are the first to implicate a functional role of dusp27 as a gene required for myofiber maturation and provide an animal model for analyzing the mechanisms governing myofibril assembly.
Biselyngbyolide B, a Novel ER Stress-inducer Isolated from the Marine Cyanobacterium Lyngbya sp.
Authors: Ohno Osamu , Watanabe Ayane , Morita Maho , Suenaga Kiyotake 
Published: November 2013

Abstract
A novel cytotoxic macrolide biselyngbyolide B (1) was isolated from the marine cyanobacterium Lyngbya sp., collected on Ishigaki Island, Japan. The structure of 1 was determined to be the aglycone of biselyngbyaside (2) on the basis of 1D and 2D NMR spectra and CD data. The apoptosis-inducing activity of 1 was 30- to 100-fold greater than that of 2. In addition, 1 was found to exhibit ER stress-inducing activity.
Peptidomics of Urine and Other Biofluids for Cancer Diagnostics
Authors: Bauça Josep Miquel , Martínez-Morillo Eduardo , Diamandis Eleftherios P 
Published: November 2013

Abstract

BACKGROUND
Cancer is a leading cause of death worldwide. The low diagnostic sensitivity and specificity of most current cancer biomarkers make early cancer diagnosis a challenging task. The comprehensive study of peptides and small proteins in a living system, known as “peptidomics,” represents an alternative technological approach to the discovery of potential biomarkers for the assessment of a wide variety of pathologies. This review examines the current status of peptidomics for several body fluids, with a focus on urine, for cancer diagnostics applications.

CONTENT
Several studies have used high-throughput technologies to characterize the peptide content of different body fluids. Because of its noninvasive collection and high stability, urine is a valuable source of candidate cancer biomarkers. A wide variety of preanalytical issues concerning patient selection and sample handling need to be considered, because not doing so can affect the quality of the results by introducing bias and artifacts. Optimization of both the analytical strategies and the processing of bioinformatics data is also essential to minimize the false-discovery rate.

SUMMARY
Peptidomics-based studies of urine and other body fluids have yielded a number of biomolecules and peptide panels with potential for diagnosing different types of cancer, especially of the ovary, prostate, and bladder. Large-scale studies are needed to validate these molecules as cancer biomarkers.
Paternally inherited ABCC8 mutation causing diffuse congenital hyperinsulinism
Authors: Chandran Suresh , Yap Kok Peng Fabian , Rajadurai Victor Samuel , Te Lu Yap , Chang Kenneth T E , Flanagan S E , Ellard S , Hussain Khalid 
Published: November 2013

Summary
background: Congenital hyperinsulinism (CHI) is a rare genetic disorder characterised by inappropriate insulin secretion in the face of severe hypoglycaemia. There are two histological subtypes of CHI namely diffuse and focal. Diffuse CHI is most common due to recessive mutations in ABCC8/KCNJ11 (which encode the SUR/KIR6.2 components of the pancreatic β-cell KATP channel) whereas focal CHI is due to a paternally inherited ABCC8/KCNJ11 mutation and somatic loss of heterozygosity for the 11p allele inside the focal lesion. Fluorine-18-l-dihydroxyphenylalanine positron emission tomography/computed tomography (18F-DOPA-PET/CT) is used in the pre-operative localisation of focal lesions prior to surgery. Diffuse CHI if medically unresponsive will require a near total pancreatectomy whereas focal CHI will only require a limited lesionectomy, thus curing the patient from the hypoglycaemia.
Aims: To report the first case of genetically confirmed CHI in Singapore from a heterozygous paternally inherited ABCC8 mutation.
Methods/Results: A term male infant presented with severe hyperinsulinaemic hypoglycaemia (HH) after birth and failed medical treatment with diazoxide and octreotide. Genetic testing (paternally inherited mutation in ABCC8/p.D1472N) suggested focal disease, but due to the unavailability of 18F-DOPA-PET/CT to confirm focal disease, a partial pancreatectomy was performed. Interestingly, histology of the resected pancreatic tissue showed changes typical of diffuse disease.
Conclusion: Heterozygous paternally inherited ABCC8/KCNJ11 mutations can lead to diffuse or focal CHI.

Learning points

HH is a cause of severe hypoglycaemia in the newborn period.

Paternal mutations in ABCC8/KCNJ11 can lead to diffuse or focal disease.

18F-DOPA-PET/CT scan is the current imaging of choice for localising focal lesions.

Gallium-68 tetra-aza-cyclododecane-N
N′N″N-‴-tetra-acetate octreotate PET scan is not a useful imaging tool for localising focal lesions.

The molecular mechanism by which a heterozygous ABCC8 mutation leads to diffuse disease is currently unclear.

Focal lesions are curable by lesionectomy and so genetic studies in patients with HH must be followed by imaging using 18F-DOPA-PET/CT scan.
Phylogenetic revision of the Late Ordovician orthid brachiopod generaPlaesiomysandHebertellafrom Laurentia
Authors: Wright David F. , Stigall Alycia L. 
Published: November 2013

The orthidine brachiopod generaPlaesiomysandHebertellaare significant constituents of Late Ordovician benthic marine communities throughout Laurentia. Species-level phylogenetic analyses were conducted on both genera to inform systematic revisions and document evolutionary relationships. Phylogenetic analyses combined discrete and continuous characters, from which character states were determined using a statistical approach, and utilized both cladistic and Bayesian methodologies.Plaesiomys cutterensis,P. idahoensis, andP. occidentalisare herein recognized as distinct species rather than subspecies ofP. subquadratus. Similarly,Hebertella montoyensisandH. prestonensisare recognized as distinct species separate fromH. occidentalis, andH. richmondensisis recognized as a distinct species rather than a geographical variant ofH. alveata.Hebertella subjugatais removed from its tentative synonymy withH. occidentalisand revalidated.The development of species-level evolutionary hypotheses forPlaesiomysandHebertellaprovides a detailed framework for assessing evolutionary and paleobiogeographic patterns of Late Ordovician brachiopods from Laurentia. The geographic range ofHebertellaexpanded throughout Laurentia during the Richmondian into both intracratonic and marginal basins.Plaesiomys subquadratusparticipated in the Late Ordovician Richmondian Invasion. The recovered phylogenetic topology forPlaesiomyssuggests thatP. subquadratusmay have migrated into the Cincinnati region from a basin situated to the paleo-northeast.
A Disorder of a Vulnerable Self: Anorexia Nervosa Patients’ Understanding of Disorder and Self in the Context of fMRI Brain Scanning
Authors: Coman Alina , Skårderud Finn , Hofmann Bjørn M. 
Published: November 2013

In this article, we aim to explore patient perspectives regarding the etiology of anorexia nervosa (AN) in the context of participating in brain research for AN. This is a qualitative study using semistructured interviews with 12 young AN patients. Data were analyzed according to thematic analysis method. This study shows that patients’ language used to express their understanding of the etiology of AN was characterized by psychological terms such as personality, self-esteem, control, and coping rather than neuroscientific terms.Participants held a complex understanding of the causes of AN, acknowledging a brain–mind relationship. However, participants expressed the hope that brain sciences could contribute to identify an objective, physical proof for AN, that would validate their illness, increase understanding, and reduce blame. The study suggests that prevailing biological explanations promoted by brain research did not encourage simplistic perspectives on causation among patients. Instead, patients viewed biological-based theories and brain science as a means of validating their illness.
Painful Skin Ulcers in a Hemodialysis Patient
Authors: Sprague Stuart M. 
Published: November 2013

Summary
Calciphylaxis, also referred to as calcific uremic arteriolopathy, is a relatively rare but well described syndrome that occurs most commonly in patients with late stage CKD. It is characterized by very painful placques or subcutaneous nodules and violaceous, mottled skin lesions that may progress to nonhealing ulcers, tissue necrosis, and gangrene with a 1-year mortality rate >50%. The pathogenesis of calciphylaxis is poorly understood. Risk factors include female sex, obesity, hyperphosphatemia, hypercalcemia, hyperparathyroidism, longer dialysis vintage, hypercoagulable states, and use of calcium-containing phosphate binders and warfarin. Treatment strategies for calciphylaxis are limited by inadequate understanding of its pathophysiology. Therapy is generally focused on correcting disturbances of calcium, phosphorus, and parathyroid hormone metabolism. Additional therapy focuses on decreasing inflammation and on dissolution of tissue calcium deposits with sodium thiosulfate and/or bisphosphonates. Successful treatment generally results in improvement of pain and healing of the lesions within 2–4 weeks, but the disorder generally takes many months to completely resolve.
Water Quality Assessment of Sukhna Lake of Chandigarh City of India
Authors: Chardhry P. , Sharma M. P. , Bhargava Renu , Kumar S. , Dadhwal P.J.S. 
Published: November 2013

The Sukhna Lake of Chandigarh City is a man-made lake situated in the foothills of the Shivalik range in the north-east corner of the city. This urban lake is one of the prime tourist places of the ‘City Beautiful’ and is mainly used for recreational purposes like boating, morning and evening strolls, exercises, food plaza and sightseeing. The catchment of the lake is mainly hilly and erosion prone, with the Sukhna wildlife sanctuary comprising a major portion of it. The water quality index of the lake water and its dependence on catchment characteristics has been studied. By using the National Sanitation Foundation Water Quality Index (NSFWQI) and Overall Index of Pollution (OIP), the results of the water quality assessment have found the lake water as having ‘good’ and ‘acceptable’ quality respectively based on past seven years’ data. During the last few years, construction activities in the catchment area have speeded up and a few invasive alien plant species have come up in the lake. Inflow of untreated domestic waste water from nearby villages in the catchment, particularly during the rainy season, seems to be the main reason for the weed problem in the lake. Strict enforcement of ban on new construction activities and preventing the release of untreated domestic waste water from the villages located in the catchment are the absolute necessary steps for maintaining and improving the lake water quality.Hydro Nepal: Journal of Water, Energy and EnvironmentVol. 12, 2013, JanuaryPage: 26-31DOI: http://dx.doi.org/10.3126/hn.v12i0.9028Uploaded Date : 10/28/2013
Satellite-Based Precipitation Estimation for Hydropower Development
Authors: Tamrakar Bijaya , Alfredsen Knut 
Published: November 2013

Runoff is one of the major factors that govern the capacity of a hydropower project. Precipitation data are needed for estimation of runoff through runoff simulation using a hydrological model. Dense setup of rain gauge network in a mountainous topography is difficult and expensive. An alternative for this problem is the use of Satellite precipitation data with high spatial and temporal resolution. They have an additional advantage that they represent areal precipitation. But, these data should be duly evaluated before using them. In this study, Tropical Rainfall Measuring Mission (TRMM 3B42) precipitation data are evaluated using ground based precipitation stations over Nepal and fed in a rainfall-runoff model to estimate monthly discharge through four of the major basins of Nepal. A simple water balance model has been used, initially developed by Thornthwaite. Statistical parameters showed significant under-estimation of precipitation over major areas of Nepal. The results from the water balance model presented quiet a good estimation of discharge through basins with an average Nash Sutcliffe Efficiency (R²) value of 0.8. This implies that TRMM data can be used for runoff simulations over Nepal. The TRMM satellite data can be used during the planning stage of hydropower projects as well as on ungauged catchments. Hydro Nepal: Journal of Water, Energy and Environment Vol. 12, 2013, January Page: 52-58DOI: http://dx.doi.org/10.3126/hn.v12i0.9033 Uploaded Date : 10/29/2013
Risk factors and outcomes associated with surgical site infections after craniotomy or craniectomy
Authors: Chiang Hsiu-Yin , Kamath Aparna S. , Pottinger Jean M. , Greenlee Jeremy D. W. , Howard Matthew A. , Cavanaugh Joseph E. , Herwaldt Loreen A. 
Published: November 2013

Object
Many studies that have evaluated surgical site infections (SSIs) after craniotomy or craniectomy (CRANI) did not use robust methods to assess risk factors for SSIs or outcomes associated with SSIs. The authors conducted the current study to identify risk factors for SSIs after CRANI procedures and to evaluate outcomes attributed to SSIs.

Methods
The authors performed a nested case-control study of patients undergoing CRANI procedures between 2006 and 2010 at the University of Iowa Hospitals and Clinics. They identified 104 patients with SSIs and selected 312 controls. They collected data from medical records and used multivariate analyses to identify risk factors and outcomes associated with SSIs.

Results
Thirty-two percent of SSIs were caused by Staphylococcus aureus, 88% were deep incisional or organ space infections, and 70% were identified after discharge. Preoperative length of stay (LOS) ≥ 1 day was the only significant patient-related factor in the preoperative model (OR 2.1 [95% CI 1.2–3.4]) and in the overall model (OR 1.9 [95% CI 1.1–3.3]). Procedure-related risk factors that were significant in the overall model included Gliadel wafer use (OR 6.7 [95% CI 2.5–18.2]) and postoperative CSF leak (OR 3.5 [95% CI 1.4–8.5]). The preoperative SSI risk index, including body mass index, previous brain operation, chemotherapy on admission, preoperative LOS, procedure reason, and preoperative glucose level, had better predictive efficacy (c-statistic = 0.664) than the National Healthcare Safety Network risk index (c-statistic = 0.547; p = 0.004). Surgical site infections were associated with increased LOS during the initial hospitalizations (average increase of 50%) or readmissions (average increase of 100%) and with an increased risk of readmissions (OR 7.7 [95% CI 4.0–14.9]), reoperations (OR 36 [95% CI 14.9–87]), and death (OR 3.4 [95% CI 1.5–7.4]).

Conclusions
Surgeons were able to prospectively assess a patient's risk of SSI based on preoperative risk factors and they could modify some processes of care to lower the risk of SSI. Surgical site infections substantially worsened patients' outcomes. Preventing SSIs after CRANI could improve patient outcomes and decrease health care utilization.