bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation
Authors: Kato Mitsuhiro , Yamagata Takanori , Kubota Masaya , Arai Hiroshi , Yamashita Sumimasa , Nakagawa Taku , FujII Takanari , Sugai Kenji , Imai Kaoru , Uster Tami , Chitayat David , Weiss Shelly , Kashii Hirofumi , Kusano Ryosuke , Matsumoto Ayumi , Nakamura Kazuyuki , Oyazato Yoshinobu , Maeno Mari , Nishiyama Kiyomi , Kodera Hirofumi , Nakashima Mitsuko , Tsurusaki Yoshinori , Miyake Noriko , Saito Kayoko , Hayasaka Kiyoshi , Matsumoto Naomichi , Saitsu Hirotomo 
Published: April 2013

SummaryPurposeKCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy (EOEE). In this study, we aimed to delineate the clinical spectrum of EOEE associated with KCNQ2 mutation.MethodsA total of 239 patients with EOEE, including 51 cases with Ohtahara syndrome and 104 cases with West syndrome, were analyzed by high‐resolution melting (HRM) analysis or whole‐exome sequencing. Detailed clinical information including electroencephalography (EEG) and brain magnetic resonance imaging (MRI) were collected from patients with KCNQ2 mutation.Key FindingsA total of nine de novo and one inherited mutations were identified (two mutations occurred recurrently). The initial seizures, which were mainly tonic seizures, occurred in the early neonatal period in all 12 patients. A suppression‐burst pattern on EEG was found in most. Only three patients showed hypsarrhythmia on EEG; eight patients became seizure free when treated with carbamazepine, zonisamide, phenytoin, topiramate, or valproic acid. Although the seizures were relatively well controlled, moderate‐to‐profound intellectual disability was found in all except one patient who died at 3 months.SignificanceDe novo KCNQ2 mutations are involved in EOEE, most of which cases were diagnosed as Ohtahara syndrome. These cases showed distinct features with early neonatal onset, tonic seizures, a suppression‐burst EEG pattern, infrequent evolution to West syndrome, and good response to sodium channel blockers, but poor developmental prognosis. Genetic testing for KCNQ2 should be considered for patients with EOEE.
What is the role of antimicrobial peptides (AMP) in acne vulgaris?
Authors: Harder Jürgen , Tsuruta Daisuke , Murakami Masamoto , Kurokawa Ichiro 
Published: April 2013

AbstractAcne vulgaris is the most common disorder of the pilosebaceous unit leading to inflamed skin characterized by the formation of comedones, papules, pustules and scarring. There is increasing evidence that the abundance of Propionibacterium acnes (P. acnes) in the inflamed acne lesions triggers inflammation. Therefore, in addition to treatment with retinoids, the use of antimicrobial agents has been established as a treatment option for acne. This indicates that antimicrobial mechanisms to control the growth of P. acnes may have an important influence on the severity of inflammatory acne. One import antimicrobial innate defense system comprises the production of antimicrobial peptides (AMP), small molecules with a broad spectrum of antimicrobial activity as well as immunomodulatory properties. Although the role of AMP in acne is still emerging, there is increasing evidence that AMP may be of importance in acne. The aim of this viewpoint is to provide some hypotheses about the potential function of AMP in the pathogenesis of acne and to discuss potential AMP‐based therapies for the treatment of acne.
Visceral fat predominance is associated with non‐alcoholic fatty liver disease in Japanese women with metabolic syndrome
Authors: Sogabe Masahiro , Okahisa Toshiya , Tsujigami Koji , Fukuno Hiroshi , Hibino Shingo , Yamanoi Akira 
Published: April 2013

AimMetabolic syndrome (MS) is likely to be associated with non‐alcoholic fatty liver disease (NAFLD). The prevalence of NAFLD in visceral fat type MS (V‐type MS) is known to be higher than in subcutaneous fat type MS (S‐type MS) in men with MS, and a larger subcutaneous fat area is reported to be not associated with NAFLD in women. We elucidated differences between V‐type S‐type MS in Japanese women with MS.MethodsThe subjects were 276 women with MS who underwent a medical checkup including abdominal ultrasonography. We examined for the prevalence of fatty liver and investigated biochemical parameters, and we also made a distinction between V‐type and S‐type MS.ResultsTriglyceride, uric acid, alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ‐glutamyltransferase, the frequency of fatty liver and impaired glucose tolerance (IGT) were significantly higher in V‐type MS than in S‐type MS. On logistic regression analysis with NAFLD (in our study, fatty liver with ALT ≥31 IU/L was defined as NAFLD) as a dependent variable, body mass index, dyslipidemia, AST and V‐type MS were significant predictors of an increased prevalence of NAFLD (odds ratios [OR] = 18.85, 3.119, 59.77 and 3.205; 95% confidence intervals [CI] = 3.585–99.15, 1.195–8.142, 18.03–198.2 and 1.198–8.573; P < 0.001, <0.05, <0.001 and <0.05, respectively).ConclusionWomen with V‐type MS are more likely to have fatty liver, IGT and liver dysfunction than those with S‐type MS. V‐type MS is one of the significant predictors for NAFLD in Japanese women with MS.
Women's perspectives are required to inform the development of maternal obesity services: a qualitative study of obese pregnant women's experiences
Authors: Heslehurst Nicola , Russell Sarah , Brandon Helene , Johnston Camilla , Summerbell Carolyn , Rankin Judith 
Published: April 2013

AbstractBackgroundIncreasing maternal obesity trends and accompanying risks have led to the development of guidelines internationally. However, the evidence‐base is poor for effective intervention, and there is a lack of representation from the perspective of obese pregnant women in guidelines. Women's engagement with weight management support services is low.ObjectiveTo explore obese pregnant women's experiences to better understand factors which need to be considered when developing services that women will find acceptable and utilize.PopulationObese women referred to an antenatal dietetic service in the Northeast of England, UK.MethodsLow‐structured depth‐interviews allowed women to freely discuss their own experiences. Discussion prompts were included; however, issues that women raised were explored thoroughly. Women summarized what they considered most important to ensure the analyses placed appropriate emphasis on factors women perceived as important. Thematic analysis identified common themes. Saturation was confirmed after 15 interviews.ResultsKey issues included: women's weight; families; experience of negativity; and priorities and desired outcomes. These combined represented women's perspectives of issues which they considered important and integral to their lived experience of being obese and pregnant. The theme incorporates women's pregnancy‐related experiences, as well as life experiences which contributed to how they felt about their weight during pregnancy.ConclusionsThere are strong associations with women's lived experiences and engagement with antenatal weight management services. Incorporating women's perspectives in the development of these services could encourage engagement by focussing on women's priorities and motivations, while taking into consideration their socially related experiences in addition to their clinical health needs.
Monitoring the t → m Martensitic Phase Transformation by Photoluminescence Emission in Eu3+‐Doped Zirconia Powders
Authors: Marin Riccardo , Sponchia Gabriele , Zucchetta Enrico , Riello Pietro , Enrichi Francesco , De Portu Goffredo , Benedetti Alvise 
Published: April 2013

In this work, we demonstrate that the martensitic t → m phase transformation of ZrO2 powder stabilized with Eu3+ and Eu3+/Y3+ ions, can be effectively monitored by photoluminescence (PL) spectroscopy. As the luminescent properties of Eu3+ from within a host lattice are strongly influenced by the coordination geometry of the ion, we used the emission spectrum to monitor structural changes of ZrO2. We synthesized Eu3+‐doped and Eu3+/Y3+‐codoped samples via the coprecipitation method, followed by calcination. We promoted the martensitic transformation by applying mechanical compression cycles with an increasing pressure, and deduced the consequential structural changes from the relative intensities of the 5D0 → 7F2 hypersensitive transitions, centered, respectively, at 606 and 613 nm whether the Eu3+ is in the eightfold coordinated site of the tetragonal phase or in the sevenfold coordinated site of the monoclinic phase. We suggest that the unique emission profile for Eu3+ ions in different symmetry sites can be exploited as a simple analytical tool for remote testing of mechanical components that are already mounted and in use. The structural changes observed by PL spectroscopy were corroborated by X‐ray powder diffraction (XRPD), with the phase compositions and volume fractions being determined by Rietveld analysis.
Friendship Quality in Adolescents with and without an Intellectual Disability
Authors: Tipton Leigh A. , Christensen Lisa , Blacher Jan 
Published: April 2013

BackgroundHigh friendship quality is often defined by high levels of intimacy, companionship, closeness and low levels of conflict. Quality friendships develop over time and may be influenced by both behaviour problems and social skills.Materials and methodsParticipants were 103, 13‐year‐old adolescents with or without intellectual disabilities in the United States. Adolescents and their mothers participated in an open‐ended interview of friendship quality and completed measures of social skills and behaviour problems. This study addressed differences in friendship quality between children with and without intellectual disabilities and explored early indicators of friendship development.ResultsAdolescents with intellectual disabilities (ID) had friendships characterized by significantly lower levels of warmth/closeness and positive reciprocity than their typically developing peers. Likewise, adolescents with ID spent less time with friends outside of school and were less likely to have a cohesive group of friends. Social skills and behaviour problems at age 9 predicted friendship quality at age 13 above and beyond disability status, with higher levels of social skills and lower levels of behaviour problems related to higher ratings on measures of friendship quality.ConclusionsIt appears that adolescents with intellectual disabilities have friendships that are characterized by less warmth/closeness and less positive reciprocity than the friendships of their typically developing peers. This discrepancy appears to be impacted by early social skills and behaviour problems in addition to the presence of the intellectual disability.
Infectious pancreatic necrosis virus in fish by‐products is inactivated with inorganic acid (pH 1) and base (pH 12)
Authors: Myrmel M , Modahl I , Nygaard H , Lie K M 
Published: April 2013

AbstractThe aquaculture industry needs a simple, inexpensive and safe method for the treatment of fish waste without heat. Microbial inactivation by inorganic acid (HCl) or base (KOH) was determined using infectious pancreatic necrosis virus (IPNV) as a model organism for fish pathogens. Salmonella and spores of Clostridium perfringens were general hygiene indicators in supplementary examinations. IPNV, which is considered to be among the most chemical‐ and heat‐resistant fish pathogens, was reduced by more than 3 log in 4 h at pH 1.0 and pH 12.0. Salmonella was rapidly inactivated by the same treatment, whereas spores of C. perfringens were hardly affected. The results indicate that low and high pH treatment could be particularly suitable for fish waste destined for biogas production. pH treatment at aquaculture production sites could reduce the spread of fish pathogens during storage and transportation without disturbing the anaerobic digestion process. The treatment could also be an alternative to the current energy‐intensive steam pressure sterilization of fish waste to be used by the bioenergy, fertilizer and soil improver industries.
Country of birth and other factors associated with hepatitis B prevalence in a population with high levels of immigration
Authors: Reekie Joanne , Gidding Heather F. , Kaldor John M. , Liu Bette 
Published: April 2013

AbstractBackground and AimWhile hepatitis B virus (HBV) prevalence is known to vary greatly between countries, systematically collected population‐level prevalence data from some countries is limited. Antenatal HBV screening programs in countries with substantial migrant populations provide the opportunity to systematically examine HBV prevalence in order to inform local and regional HBV estimates.MethodsA comprehensive register of Australian mothers giving birth from January 2000 to December 2008 was linked to a register of HBV notifications. Age‐standardized prevalence of chronic HBV were calculated overall and by the mother's country of birth. Multiple logistic regression was used to investigate other factors associated with HBV prevalence.ResultsFive hundred twenty‐three thousand six hundred sixty‐five women were included and linked to 3861 HBV notifications. The age‐standardized HBV prevalence was low (0.75%, 95% confidence interval 0.72–0.79). The highest HBV prevalence rates were observed in women born in Cambodia (8.60%), Taiwan (8.10%), Vietnam (7.49%), China (6.80%), and Tonga (6.51%). Among Australia‐born women, those who smoked during pregnancy, were from a more disadvantaged socioeconomic background, and lived in remote areas were more likely to have HBV. There was also a trend suggesting a decrease in the prevalence of HBV over time.ConclusionsAntenatal screening for HBV can provide systematic population estimates of HBV prevalence in migrants and also identify other high prevalence groups. Longer follow‐up will be required to confirm the small decrease in HBV prevalence observed in this study.
Two‐week schedule of hypofractionated radiotherapy as a local salvage treatment for small hepatocellular carcinoma
Authors: Park Jin‐hong , Yoon Sang Min , Lim Young‐Suk , Kim So Yeon , Shim Ju Hyun , Kim Kang Mo , Lee Han Chu , Cho Byungchul , Park Geumju , Kim Jong Hoon 
Published: April 2013

AbstractBackground and AimIn cases of small hepatocellular carcinoma (HCC) where established curative treatment cannot be applied, stereotactic body radiotherapy (SBRT) has been used as a non‐invasive alternative treatment modality. However, short‐course SBRT may not be safe if the tumor is located around a critical normal organ. Therefore, we applied hypofractionated radiotherapy for these tumors and evaluated outcomes of this treatment.MethodsBetween December 2008 and August 2011, 26 patients (28 lesions) with HCC were treated with hypofractionated radiotherapy. Inclusion criteria were HCC not suitable for surgery or other local ablative therapy, a tumor size < 6 cm, adequate hepatic function, an HCC located within 2 cm of a critical organ, and no evidence of vascular invasion. A dose of 4–5 Gy per fraction was given, with a total dose of 40–50 Gy over 2 weeks.ResultsThe overall response rate was 67.9%, with seven complete responses (25.0%) and 12 partial responses (42.9%) at 3 months after radiotherapy. The overall survival rates at 1 and 2 years were 88.5% and 67.2%, respectively. The local control rate at 2 years was 87.6%. The Intrahepatic recurrence‐free and distant failure‐free survival rates at 2 years were 36.5% and 68.2%, respectively. Grade ≥ 3 hepatic toxicity was observed in one patient.ConclusionsTwo‐week schedule of hypofractionated radiotherapy for small HCC was feasible with good local control and safety. This fractionation schedule can be used as an alternative treatment option for HCC located close to a critical normal organ if short‐course SBRT is not feasible.
Association Between Sedating Medications and Delirium in Older Inpatients
Authors: Rothberg Michael B. , Herzig Shoshana J. , Pekow Penelope S. , Avrunin Jill , Lagu Tara , Lindenauer Peter K. 
Published: April 2013

ObjectivesTo examine the association between Beers criteria sedative medications and delirium in a large cohort of hospitalized elderly adults with common medical conditions.DesignRetrospective cohort and nested case–control studies.Setting374 U.S. hospitals.ParticipantsAll individuals aged 65 and older admitted to the hospital between September 2003 and June 2005 with one of six principal diagnoses (acute myocardial infarction, chronic obstructive pulmonary disease, community‐acquired pneumonia, congestive heart failure, ischemic stroke, urinary tract infection).MeasurementsPrimary outcome was presumed hospital‐acquired delirium, defined as initiation of an antipsychotic medication or restraints on hospital Day 3 or later. Logistic and proportional hazards regression were used to model the associations between sedative exposure and delirium.ResultsThe dataset contained 225,028 participants (median age 82; 58% female). Four percent fit the definition of hospital‐acquired delirium (median onset Day 5). In all, 38,883 (17%) participants received one or more sedative medications. In the cohort study, diphenhydramine (adjusted odds ratio (AOR) = 1.22, 95% confidence interval (CI) = 1.09–1.36) and short‐acting benzodiazepines (AOR = 1.18, 95% CI = 1.03–1.34) were associated with greater risk of subsequent delirium. In the nested case–control study, diphenhydramine, short‐ and long‐acting benzodiazepines and promethazine were associated with delirium. Amitriptyline and muscle relaxants were not associated with delirium in either study. Confounding by indication could not be excluded for drugs that are sometimes used improperly to treat delirium.ConclusionAn association was found between several Beers criteria sedative medications and delirium in hospitalized medical patients. Given the prevalence of these medications and the morbidity associated with delirium, further investigation into the appropriateness of such prescribing is warranted.
Input‐Output‐based Life Cycle Inventory
Authors: Müller Bodo , Schebek Liselotte 
Published: April 2013

SummaryAn input‐output‐based life cycle inventory (IO‐based LCI) is grounded on economic environmental input‐output analysis (IO analysis). It is a fast and low‐budget method for generating LCI data sets, and is used to close data gaps in life cycle assessment (LCA). Due to the fact that its methodological basis differs from that of process‐based inventory, its application in LCA is a matter of controversy. We developed a German IO‐based approach to derive IO‐based LCI data sets that is based on the German IO accounts and on the German environmental accounts, which provide data for the sector‐specific direct emissions of seven airborne compounds. The method to calculate German IO‐based LCI data sets for building products is explained in detail. The appropriateness of employing IO‐based LCI for German buildings is analyzed by using process‐based LCI data from the Swiss Ecoinvent database to validate the calculated IO‐based LCI data.The extent of the deviations between process‐based LCI and IO‐based LCI varies considerably for the airborne emissions we investigated. We carried out a systematic evaluation of the possible reasons for this deviation. This analysis shows that the sector‐specific effects (aggregation of sectors) and the quality of primary data for emissions from national inventory reporting (NIR) are the main reasons for the deviations. As a rule, IO‐based LCI data sets seem to underestimate specific emissions while overestimating sector‐specific aspects.
Response of Rice to Insect Elicitors and the Role of OsJAR1 in Wound and Herbivory‐Induced JA‐Ile Accumulation
Authors: Fukumoto Kaori , Alamgir Kabir Md , Yamashita Yuko , Mori Izumi C. , Matsuura Hideyuki , Galis Ivan 
Published: April 2013

AbstractPlants produce jasmonic acid (JA) and its amino acid conjugate, jasmonoyl‐L‐isoleucine (JA‐Ile) as major defense signals in response to wounding and herbivory. In rice (Oryza sativa), JA and JA‐Ile rapidly increased after mechanical damage, and this increase was further amplified when the wounds were treated with oral secretions from generalist herbivore larvae, lawn armyworms (Spodoptera mauritia), revealing for the first time active perception mechanisms of herbivore‐associated elicitor(s) in rice. In the rice genome, two OsJAR genes can conjugate JA and Ile and form JA‐Ile in vitro; however, their function in herbivory‐induced accumulation of JA‐Ile has not been investigated. By functional characterization of TOS17 retrotransposon‐tagged Osjar1 plants and their response to simulated herbivory, we show that OsJAR1 is essential for JA‐Ile production in herbivore‐attacked, field‐grown plants. In addition, OsJAR1 was required for normal seed development in rice under field conditions. Our results suggest that OsJAR1 possesses at least two major functions in rice defense and development that cannot be complemented by the additional OsJAR2 gene function, although this gene previously showed overlapping enzyme activity in vitro.
Changes in blood parameters in rhesus monkeys (Macaca mulatta) during the first trimester of gestation
Authors: Ibáñez‐Contreras Alejandra , Hernández‐Godínez Braulio , Reyes‐Pantoja Sergio A. , Jiménez‐García Andrea , Solís‐Chavéz Salvador A. , Suarez‐Gutiérrez Rodrigo , Gálvan‐Montaño Alfonso 
Published: April 2013

AbstractBackgroundRegarding the good practice in the laboratory work, it is essential to have a broad spectrum of biochemical and hematological references in pregnant females to determine the health status of the colony.ObjectiveTo establish reference values to reveal changes in hematology and blood chemistry in pregnant rhesus monkeys (Macaca mulatta) in their first trimester of pregnancy.MethodsTwenty‐eight females in reproductive stage were used, divided into two groups: 14 pregnant macaques in their first trimester and 14 non‐pregnant used as the control group. Blood samples were collected for the hematological test and blood chemistry.ResultsThe results showed significant difference in the blood chemistry for the following parameters: glucose, total bilirubin, and total protein. The hematological evaluation revealed significant difference in leukocytes and neutrophils.ConclusionsThese findings offer a reference range and provide a basis for improvement in techniques and refinement of clinical processes in these specimens.
Anatomical Variations in the Posterior Part of the Circle of Willis and Vascular Pathology in Bilateral Thalamic Infarction
Authors: Förster Alex , Nölte Ingo , Wenz Holger , Al‐Zghloul Mansour , Kerl Hans U. , Brockmann Marc A. , Groden Christoph 
Published: April 2013

ABSTRACTBACKGROUND AND PURPOSEBilateral paramedian thalamic infarction is a rare subtype of stroke the etiology of which still remains undetermined in many patients.METHODSFrom a computed tomography (CT)/magnetic resonance imaging report database, we identified and analyzed 48 patients with bilateral paramedian thalamic infarction on diffusion‐weighted imaging. Vascular pathologies were noted on CT angiography (CTA)/magnetic resonance angiography (MRA) and the P1 segments of the posterior cerebral artery (PCA) described as normal, hypoplastic, or absent.RESULTSVascular imaging revealed top of the basilar artery (BA) occlusion in 6 (12.5%), BA occlusion in 4 (8.3%), BA stenosis in 1 (2.1%), and BA hypoplasia in 3 (6.3%), PCA occlusion in 4 (8.3%), and PCA stenosis in 4 (8.3%) patients. In 18 (37.5%) patients, one or both P1 segments of the PCA were hypoplastic or absent. Patients with hypoplastic/absent P1 segments were more likely to have exclusively bilateral paramedian thalamic lesions (P < .001). An embolic source could be identified in 25 (55.6%) patients; there were no significant differences between both groups.CONCLUSIONSVascular imaging is useful to determine underlying vascular pathologies and may support the diagnosis of small vessel disease in those patients with isolated bilateral paramedian thalamic infarction, hypoplastic/absent P1 segment of the PCA, and lack of vascular pathology.