bluuebunny/crossref_metadata_2025_split huggingface dataset:
FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States
Authors: Tassone Flora , Iong Ka Pou , Tong Tzu-Han , Lo Joyce , Gane Louise W , Berry-Kravis Elizabeth , Nguyen Danh , Mu Lisa Y , Laffin Jennifer , Bailey Don B , Hagerman Randi J 
Published: December 2012

Abstract
Background
Population screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified in 1991. Advances in understanding the molecular basis of fragile X syndrome (FXS) and in genetic testing methods have led to new, less expensive methodology to use for large screening endeavors. A core criterion for newborn screening is an accurate understanding of the public health burden of a disease, considering both disease severity and prevalence rate. This article addresses this need by reporting prevalence rates observed in a pilot newborn screening study for FXS in the US.

Methods
Blood spot screening of 14,207 newborns (7,312 males and 6,895 females) was conducted in three birthing hospitals across the United States beginning in November 2008, using a PCR-based approach.

Results
The prevalence of gray zone alleles was 1:66 females and 1:112 males, while the prevalence of a premutation was 1:209 females and 1:430 males. Differences in prevalence rates were observed among the various ethnic groups; specifically higher frequency for gray zone alleles in males was observed in the White group compared to the Hispanic and African-American groups. One full mutation male was identified (>200 CGG repeats).

Conclusions
The presented pilot study shows that newborn screening in fragile X is technically feasible and provides overall prevalence of the premutation and gray zone alleles in the USA, suggesting that the prevalence of the premutation, particularly in males, is higher than has been previously reported.
Employment outcome for people with schizophrenia in rural v. urban China: population-based study
Authors: Yang Lawrence H. , Phillips Michael R. , Li Xianyun , Yu Gary , Zhang Jingxuan , Shi Qichang , Song Zhiqiang , Ding Zhijie , Pang Shutao , Susser Ezra 
Published: December 2012

BackgroundAlthough outcomes among people with schizophrenia differ by social context, this has rarely been examined across rural v. urban settings. For individuals with schizophrenia, employment is widely recognised as a critical ingredient of social integration.AimsTo compare employment for people with schizophrenia in rural v. urban settings in China.MethodIn a large community-based study in four provinces representing 12% of China's population, we identified 393 people with schizophrenia (112 never treated). We used adjusted Poisson regression models to compare employment for those living in rural (n = 297) v. urban (n = 96) settings.ResultsAlthough rural and urban residents had similar impairments due to symptoms, rural residents were three times more likely to be employed (adjusted relative risk 3.27, 95% Cl 2.11-5.07, P<0.001).ConclusionsPeople with schizophrenia have greater opportunities to use their capacities for productive work in rural than urban settings in China. Contextual mechanisms that may explain this result offer a useful focus for future research.
Hypokalaemia: Common Things Occur Commonly — a Retrospective Survey
Authors: Reid Alasdair , Jones Gareth , Isles Chris 
Published: December 2012

Summary Objectives To define the causes of hypokalaemia in an unselected adult population. Design Retrospective survey of biochemistry database. Setting District general hospital in southwest Scotland. Participants and main outcome measures There were 187,704 measurements of urea and electrolytes in 2010. Sixty-one patients had serum potassium <2.5 mmol/L on at least one occasion. Results Average age of the patients was 71 (range 33–99) years. The most common causes were diarrhoea and/or vomiting (51% of cases), diuretic therapy (47%), nutritional causes including poor dietary intake, re-feeding syndrome and inadequate potassium supplementation when patients were nil by mouth (37%). In 25% of patients a transient and profound fall in serum potassium appeared to coincide with their acute illness. Acute alcohol intoxication and/or alcohol withdrawal were prominent features in 11% of patients. More than one cause was commonly present. There were no cases of Bartter's, Gitelman's or Liddle's syndromes or of hypokalaemic periodic paralysis in this study. Conclusions Severe hypokalaemia <2.5 mmol/L occurs at least once a week in a district general hospital with a catchment population of around 150,000, suggesting there may be around 300 cases a week in the UK (population around 50,000,000). Diuretics, vomiting and diarrhoea are commonly implicated as are nutritional causes, acute illness and alcohol. Bartter's, Gitelman's, Liddle's syndrome and hypokalaemic period paralysis are all extremely uncommon.
Efficient Analysis of Single Molecule Spectroscopic Data via MATLAB
Authors: Hill Caleb M. , Pan Shanlin 
Published: December 2012

ABSTRACTA MATLAB program is developed to help analyze single molecule spectroscopic data obtained with a standard inverted optical microscope. The described software has provisions to mitigate the effects of high background signals present in such data sets and greatly streamlines their analysis. Efficient single molecule image analysis and statistical blinking analysis are enabled with these programs to support single molecule imaging in an inverted configuration.
Combined Association of Creatinine, Albuminuria, and Cystatin C with All-Cause Mortality and Cardiovascular and Kidney Outcomes
Authors: Waheed Salman , Matsushita Kunihiro , Astor Brad C. , Hoogeveen Ron C. , Ballantyne Christie , Coresh Josef 
Published: December 2012

Summary

Background
Estimated GFR by serum creatinine (eGFRcreatinine) is a pivotal measure of kidney function in clinical practice but can be affected by several non-GFR determinants, resulting in misclassification. Combining multiple kidney markers to predict risk is an area of substantial interest.

Design, setting, participants, & measurements
This study followed 9489 adults from visit 4 (1996–1998) of the Atherosclerosis Risk in Communities Study for a median of 11.2 years, and assessed joint association of eGFRcreatinine, eGFRcystatin, and urinary albumin/creatinine ratio (ACR) with mortality, coronary heart disease, heart failure, AKI, and ESRD using Cox proportional hazards models. The predictive ability of ACR and eGFRcystatin beyond eGFRcreatinine was also investigated.

Results
Lower eGFRcreatinine and eGFRcystatin as well as elevated ACR were independently associated with risk for all outcomes. eGFRcreatinine <60 was not associated with risk of mortality, coronary heart disease, or heart failure if eGFRcystatin ≥60 with ACR <30 mg/g compared with those with all three markers above CKD cutoffs (i.e., eGFRcystatin ≥60, eGFRcreatinine ≥60, and ACR<30), whereas risk association with kidney outcomes remained: Hazard ratio (95% confidence interval), 0.96 (0.66, 1.39) for mortality, 0.85 (0.55, 1.31) for coronary heart disease, 0.99 (0.60, 1.63) for heart failure, 1.61 (0.92, 2.82) for AKI, and 3.53 (1.06, 11.68) for ESRD. Adding ACR to the fully adjusted model with eGFRcreatinine or adding eGFRcystatin to both eGFRcreatinine and ACR improved risk classification for all outcomes (P ≤ 0.01).

Conclusions
eGFRcystatin can be a useful confirmatory marker in those with eGFRcreatinine <60 and whose ACR is <30 mg/g. This approach improves risk classification, and provides reassurance to a large group of individuals with eGFRcreatinine <60.
Categorification of Hopf algebras of rooted trees
Authors: Kock Joachim 
Published: December 2012

AbstractWe exhibit a monoidal structure on the category of finite sets indexed by P-trees for a finitary polynomial endofunctor P. This structure categorifies the monoid scheme (over Spec ℕ) whose semiring of functions is (a P-version of) the Connes-Kreimer bialgebra H of rooted trees (a Hopf algebra after base change to ℤ and collapsing H 0). The monoidal structure is itself given by a polynomial functor, represented by three easily described set maps; we show that these maps are the same as those occurring in the polynomial representation of the free monad on P.
Decreasing ventricular infections through the use of a ventriculostomy placement bundle: experience at a single institution
Authors: Kubilay Zeynep , Amini Shahram , Fauerbach Loretta Litz , Archibald Lennox , Friedman William A. , Layon A. Joseph 
Published: December 2012

Object
Ventricular infection after ventriculostomy placement carries a high mortality rate. Responding to ventriculostomy infection rates, a multidisciplinary performance improvement team was formed, a comprehensive protocol for ventriculostomy placement was developed, and the efficacy was evaluated.

Methods
A best-practice protocol was developed, including hand hygiene before the procedure; prophylactic antibiotics; sterile gloves changed between preparation, draping, and procedure; hair removal by clipping for dressing adherence; skin preparation using iodine povacrylex (0.7% available iodine) and isopropyl alcohol (74%); full body and head drape; full surgical attire for the surgeon and other bedside providers; and an antimicrobial-impregnated catheter. A checklist of critical components was used to confirm proper insertion and to monitor practice. Procedure-specific infection rates were calculated using the number of infections divided by the number of patients in whom an external ventricular drainage (EVD) device was inserted × 100 (%). Data were reported back to providers and to the committee. Bundle compliance was monitored over a 4-year period.

Results
At the authors' institution, 2928 ventriculostomies were performed between the beginning of the fourth quarter of 2006 and the end of the first quarter of 2012. Although the best-evidence bundle was applied to all patients, only 588 (20.1%) were checklist monitored (increasing from 7% to 23% over the study period). The infection rate for the 2 quarters before bundle implementation was 9.2%. During the study period, the rate decreased quarterly to 2.6% and then to 0%. Over a 4-year period, the rate was 1.06% (2007), 0.66% (2008), 0.15% (2009), and 0.34% (2010); it was 0% in 2011 and the first quarter of 2012. The overall EVD infection rate was 0.46% after bundle implementation.

Conclusions
Bundle implementation including an antimicrobial-impregnated catheter dramatically decreased EVD-related infections. Training and situational awareness of appropriate practice, assisted by the checklist, plus use of the antibiotic-impregnated catheter resulted in sustained reduction in ventriculitis.
Réflexions sur l'identité italienne dans la « question de la langue » au xvie siècle
Authors: D’Amico Silvia 
Published: December 2012

Résumé Au xvi e siècle la langue littéraire du Trecento florentin devient un modèle prestigieux pour toutes les nations européennes qui sont en train de définir leur unité à travers l’affirmation de la langue vernaculaire par rapport au latin. À travers les ouvrages de Castiglione, Bartolomeo Carli Piccolomini, Gabriele Simeoni, Benedetto Varchi et grâce à l’édit de 1561 d’Emmanuel-Philibert, nous pouvons constater l’impact politique de la « question de la langue » et son lien fondamental avec l’identité nationale.
Langue(s) et nation(s) dans une monarchie composite
Authors: Merle Alexandra 
Published: December 2012

Résumé Cet article examine les rapports entre langue et nation dans le cas particulier de la monarchie espagnole, qui se distingue à l’époque moderne par la variété de ses possessions et celles des langues vernaculaires qui y sont parlées, et par une tension constante entre cohésion et séparation, y compris dans la seule péninsule Ibérique. Il s’agira de savoir d’une part si les progrès indéniables de la langue castillane répondent à une politique menée par la couronne, et s’ils vont de pair avec le développement d’une « idée de nation », et d’autre part si la préservation d’autres langues vernaculaires, notamment dans les territoires de la couronne d’Aragon, a une portée « nationaliste ».
Langue et nation : l'invention du « siècle de louis le grand »
Authors: Guion Béatrice 
Published: December 2012

Résumé Les contemporains de Louis XIV s’accordent à célébrer dans le « siècle de Louis le Grand » un double apogée, politique et littéraire, qui permet à la France d’égaler, voire de surpasser, la Rome d’Auguste : on croit pleinement réalisée la translatio imperii et studii , thèse soutenue de longue date par les érudits gallicans. La conviction de l’excellence de la langue, dont on s’accorde à juger, après 1650, qu’elle a atteint un point de perfection ; on s’accorde aussi a voir, dans le « génie de la langue », une expression du « génie français ».
Role of Caveolin‐1 Expression in the Pathogenesis of Pulmonary Edema in Ventilator‐Induced Lung Injury
Authors: Maniatis Nikolaos A. , Kardara Matina , Hecimovich Dan , Letsiou Eleftheria , Castellon Maricela , Roussos Charalambos , Shinin Vasily , Votta‐Vellis E. Gina , Schwartz David E. , Minshall Richard D. 
Published: December 2012

Caveolin‐1 is a key regulator of pulmonary endothelial barrier function. Here, we tested the hypothesis that caveolin‐1 expression is required for ventilator‐induced lung injury (VILI). Caveolin‐1 gene‐disrupted (Cav‐1−/−) and age‐, sex‐, and strain‐matched wild‐type (WT) control mice were ventilated using two protocols: volume‐controlled with protective (8 mL/kg) versus injurious (21 mL/Kg) tidal volume for up to 6 hours; and pressure‐controlled with protective (airway pressure = 12 cm H2O) versus injurious (30 cm H2O) ventilation to induce lung injury. Lung microvascular permeability (whole‐lung 125I‐albumin accumulation, lung capillary filtration coefficient [Kf, c]) and inflammatory markers (bronchoalveolar lavage [BAL] cytokine levels and neutrophil counts) were measured. We also evaluated histologic sections from lungs, and the time course of Src kinase activation and caveolin‐1 phosphorylation. VILI induced a 1.7‐fold increase in lung 125I‐albumin accumulation, fourfold increase in Kf, c’ significantly increased levels of cytokines CXCL1 and interleukin‐6, and promoted BAL neutrophilia in WT mice. Lung injury by these criteria was significantly reduced in Cav‐1−/− mice but fully restored by i.v. injection of liposome/Cav‐1 cDNA complexes that rescued expression of Cav‐1 in lung microvessels. As thrombin is known to play a significant role in mediating stretch‐induced vascular injury, we observed in cultured mouse lung microvascular endothelial cells (MLECs) thrombin‐induced albumin hyperpermeability and phosphorylation of p44/42 MAP kinase in WT but not in Cav‐1−/− MLECs. Thus, caveolin‐1 expression is required for mechanical stretch‐induced lung inflammation and endothelial hyperpermeability in vitro and in vivo.
Uncommon and Atypical Sinonasal Masses: Diagnostic and Therapeutic Challenges
Authors: Sharma Vinit Kumar , Sharma Rohit , Madhok Rajneesh , Agarwal Tanu , Mehrotra Ashish , Kochhar Anisha 
Published: December 2012

ABSTRACT

Introduction
Sinonasal masses are a wide range of pathologies ranging from simple nasal polyps to rare tumors like esthesioneuroblastomas. Early symptoms of all of them are similar to common nasal and sinus problems, hence, producing a delay in diagnosis.

Materials and methods
All the patients presenting with sinonasal masses in the Department of ENT and Head/Neck Surgery, SRMS Institute of Medical Sciences, Bareilly, were included in the study. The study was carried out between January 2007 and December 2011. Detailed history and ENT examination were recorded. Radiological investigation was carried out in the form of computed tomographic (CT) scan of nose and paranasal sinuses. Final diagnosis was made by histopathological examination either before instituting any form of treatment or by a postsurgical biopsy where surgery was carried out. Immunohistochemistry was done in some cases as deemed necessary by the pathologist. Thus, their modes of presentation, radiological and histopathological profiles were studied along with dilemmas in diagnosis and management.

Results
A total of 189 nasal masses were observed during this period. Out of which 126 were diagnosed as nasal polyps and were excluded from the study. Thus, 63 uncommon nasal masses were seen in the study period. A large number of uncommon sinonasal masses had atypical presentation and/or presented in an advanced stage to pose a diagnostic and surgical challenge. Endoscopic techniques are becoming a gold standard in surgical resection in most of them. Interdepartmental cooperation is highly essential.

How to cite this article
Sharma R, Sharma VK, Madhok R, Agarwal T, Mehrotra A, Kochhar A. Uncommon and Atypical Sinonasal Masses: Diagnostic and Therapeutic Challenges. Clin Rhinol An Int J 2012;5(3):114-117.
Small-Cell Neuroendocrine Carcinoma of Nasopharynx
Authors: Shunyu N Brian , Lynrah Zaren , Raphal Vandana 
Published: December 2012

ABSTRACT
Small-cell neuroendocrine carcinoma occurring in nasopharynx are extremely rare. Only three cases of small-cell neuroendocrine carcinoma occurring in nasopharynx have been reported uptodate. To our knowledge this is the fourth case of small-cell neuroendocrine carcinoma of the nasopharynx reported in world literature. We present this case for its rarity.

How to cite this article
Shunyu NB, Lynrah Z, Goyal A, Raphal V. Small-Cell Neuroendocrine Carcinoma of Nasopharynx. Clin Rhinol An Int J 2012;5(3):130-131.
Melanotic Neuroectodermal Tumor of Infancy
Authors: Tripuraneni Satish Chandra 
Published: December 2012

ABSTRACT
Melanotic neuroectodermal tumor of infancy (MNTI) is a relatively uncommon osteolytic-pigmented neoplasm that primarily affects the jaws of newborn infants. Here, we are reporting a case of MNTI presented at the age of 12 years. The objective of this report is to review the incidence, presentation, investigation protocols, management options and outcomes.

How to cite this article
Tripuraneni SC. Melanotic Neuroectodermal Tumor of Infancy. Clin Rhinol An Int J 2012;5(3):138-139.
Entreprises sociale et sociétalement responsable : le fossé est-il si grand ?
Authors: Persais Eric 
Published: December 2012

L’importance des questions de RSE semble donner aux entreprises de l’économie sociale un avantage concurrentiel déterminant sur le marché. Pourtant, la plupart des firmes de l’économie classique se sont converties aux exigences du développement durable. Dès lors, qu’est-ce qui différencie les entités de l’économie sociale, des entreprises sociétalement responsables fondées sur le modèle capitaliste ? Les premières sont-elles réellement perçues comme étant plus responsables que les secondes ? A travers la théorie des droits de propriété, l’auteur tente d’éclairer ces deux questions. Il offre un regard original sur une problématique de la RSE et amène à dépasser les visions dogmatiques pour permettre aux entreprises, qu’elles soient de l’économie sociale ou conventionnelle, d’endosser pleinement leur responsabilité extra-économique.
Genetic risk for earlier menarche also influences peripubertal body mass index
Authors: Johnson William , Choh Audrey C. , Curran Joanne E. , Czerwinski Stefan A. , Bellis Claire , Dyer Thomas D. , Blangero John , Towne Bradford , Demerath Ellen W. 
Published: December 2012

AbstractIt is unclear whether earlier age at menarche is associated with higher body mass index (BMI) because they share a common genetic underpinning. We investigated the impact of single nucleotide polymorphisms (SNPs) influencing menarche timing on peripubertal BMI. For 556 Fels Longitudinal Study children (277 boys/279 girls) born 1928–1992, a genetic risk score (GRS42) was computed as the sum of the number of risk alleles in 42 putative menarche SNPs. Serial BMI Z‐scores within ±6.99 years from each individual's age at peak height velocity (Age@PHV) were grouped into seven time points (−6 years, −4 years, –2 years, Age@PHV, +2 years, +4years, and +6 years). Heritability of BMI ranged from 0.53 to 0.85 across the time points. The effect of GRS42 on BMI Z‐scores at each time point was modeled using variance components‐based procedures. GRS42 had a significant (P < 0.05) effect at every time point; an increase of one risk allele was associated with an increase of 0.03–0.08 BMI Z‐scores. A separate score (GRS29) was computed that excluded 13 of the menarche SNPs previously documented to also influence adiposity; significant main effects were observed at Age@PHV+4 and +6 years. This finding supports a causal effect of advanced sexual development on post‐Age@PHV BMI. Significant positive GRS42 (or GRS29)‐by‐birth year interactions indicate that some genetic influences on BMI have amplified over the 20th century. This gene‐by‐environment interaction also suggests that children with a genetic predisposition to earlier sexual development might avoid elevated BMI through alteration of their nutritional environment. Am J Phys Anthropol, 2013. © 2012 Wiley Periodicals, Inc.
Skeletal growth and the changing genetic landscape during childhood and adulthood
Authors: Duren Dana L. , Seselj Maja , Froehle Andrew W. , Nahhas Ramzi W. , Sherwood Richard J. 
Published: December 2012

AbstractGrowth, development, and decline of the human skeleton are of central importance to physical anthropology. All processes of skeletal growth (longitudinal growth as well as gains and losses of bone mass) are subjected to environmental and genetic influences. These influences, and their relative contributions to the phenotype, can be asserted at any stage of life. We present here the gross phenotypic and genetic landscapes of four skeletal traits, and show how they vary across the life span. Phenotypic sex differences are found in bone diameter and cortical index (a ratio of cortical thickness over bone diameter) at a very early age and continue throughout most of life. Sexual dimorphism in summed cortical thickness and bone length, however, is not evident until shortly after the pubertal growth spurt. Genetic contributions (heritability) to these skeletal phenotypes are generally moderate to high. Bone length and bone diameter (which both scale with body size) tend to have the highest heritability, with heritability of bone length fairly stable across ages (with a notable dip in early childhood) and that of bone diameter peaking in early childhood. The bone traits summed cortical thickness and cortical index that may better reflect bone mass, a more plastic phenomenon, have slightly lower genetic influences, on average. Results from our phenotypic and genetic landscapes serve three key purposes: 1) demonstration of the integrated nature of the genetic and environmental underpinnings of skeletal form, 2) identification of periods of bone's relative sensitivity to genetic and environmental influences, 3) and stimulation of hypotheses predicting the effects of exposure to environmental variables on the skeleton, given variation in the underlying genetic architecture. Am J Phys Anthropol, 2013. © 2012 Wiley Periodicals, Inc.