bluuebunny/crossref_metadata_2025_split huggingface dataset:
Childhood presentation of COL4A1 mutations
Authors: SHAH SIDDHARTH , ELLARD SIAN , KNEEN RACHEL , LIM MING , OSBORNE NIGEL , RANKIN JULIA , STOODLEY NEIL , VAN DER KNAAP MARJO , WHITNEY ANDREA , JARDINE PHILIP 
Published: January 2012

Aim  To describe the clinical and radiological features of four new families with a childhood presentation of COL4A1 mutation.Method  We retrospectively reviewed the clinical presentation. Investigations included radiological findings and COL4A1 mutation analysis of the four cases. Affected family members were identified. COL4A1 mutation analysis was performed in all index cases and, where possible, in affected family members.Results  The three male and one female index cases presented with recurrent childhood‐onset stroke, infantile hemiplegia/spastic quadriplegia, and infantile spasms. Additional features such as congenital cataracts and anterior segment dysgenesis were present. Microcephaly and developmental delay/learning difficulties were present in three cases. Three cases had one or more family member affected in multiple generations, with a total of 11 such individuals identified. The clinical features showed a wide intrafamilial variation. Magnetic resonance imaging (MRI) showed bilateral white matter change in all cases, except in one mutation‐positive family member. Unilateral or bilateral porencephaly was present in cases with infantile hemiplegia, and a diagnosis of clinical stroke was supported by the presence of intracerebral haemorrhage. The age at diagnosis was between 1 year and 6 years for the children with presentation in infancy and 12 months after stroke in a 14‐year‐old male. Three new pathogenic mutations were identified in the COL4A1 gene.Interpretation  COL4A1 mutations can present in children with infantile hemiplegia/quadriplegia, stroke or epilepsy, and a motor disorder. The presence of eye features and white matter change on MRI in childhood can help point towards the diagnosis. Once the diagnosis is made, a careful search can identify affected family members.
Beneficial Impact of Prolonged Dual Antiplatelet Therapy after Drug‐Eluting Stent Implantation
Authors: SARDELLA GENNARO , MANCONE MASSIMO , BIONDI‐ZOCCAI GIUSEPPE , CONTI GIULIA , CANALI EMANUELE , STIO ROCCO , LUCISANO LUIGI , CALCAGNO SIMONE , DE CARLO CARLOTTA , FEDELE FRANCESCO 
Published: January 2012

Background:
Twelve‐month dual antiplatelet therapy (DAT) with aspirin and clopidogrel after drug‐eluting stent (DES) implantation is routinely recommended. It is unclear if prolonged (>12‐month) DAT is also favorable. We compared the outcome of patients discontinuing DAT 12 months after off‐label DES implantation versus those with DAT for >12 months.
Methods:
Baseline, treatment, and outcome data of patients undergoing off‐label DES implantation and free from events 11.5 months after index procedure were retrospectively retrieved. Those discontinuing DAT between 11.5 and 12.5 months (12‐month DAT group) were compared to those discontinuing DAT after 12.5 months (>12‐month DAT group). The primary end‐point was the long‐term (>24‐month) rate of major adverse cerebro‐cardiovascular events (MACCE).
Results:
Two hundred seventy‐two patients met study inclusion criteria: 133 (48.9%) in the 12‐month DAT group and 139 (51.1%) in the >12‐month DAT group (who were on DAT for an average of 24 months). After an average of 36 months after DES implantation, 14 patients (5.1%) developed MACCE, with 6 (3.5%) cardiac deaths, 7 (2.2%) myocardial infarctions, no stroke, and 5 (1.8%) repeat revascularizations. The >12‐month DAT group had a significantly lower risk of MACCE (1 [0.7%] vs. 13 [9.8%] in the 12‐month DAT group, P < 0.001) and myocardial infarction (0 vs. 7 [5.3%], P = 0.006), with such differences confirmed at multivariable propensity‐adjusted analyses. No significant differences in terms of minor or major bleedings occurred.
Conclusions:
In this retrospective registry, patients with off‐label DES implantation receiving prolonged (>12 months) DAT presented with lower rates of MACCE and myocardial infarction. (J Interven Cardiol 2012;25:596–603)
Placental Villous Expression of TNFα and IL‐10 and Effect of Oxygen Tension in Euploid Early Pregnancy Failure
Authors: Calleja‐Agius Jean , Jauniaux Eric , Muttukrishna Shanthi 
Published: January 2012

ProblemThe objective was to investigate placental inflammation in chromosomally normal miscarriages in vivo and in vitro.Method of studyChorionic villous tissue was collected from missed miscarriages and normal gestation‐matched controls and cultured at 6 and 20% O2 concentrations. Tissue was karyotyped. Flowcytometric bead arrays and real‐time PCR were carried out for protein and gene expression studies.ResultsThe levels of TNFα and IL‐10 were significantly (P < 0.005 and P < 0.05) higher, and the levels of TNF‐R1 and TNF‐R2 were significantly (P < 0.01 and P < 0.05) lower in culture conditioned medium of villous explants of miscarriages compared to control group. Villous tissue homogenates from miscarriages contained significantly (P < 0.005) lower levels of TNF‐R1. There was a significant O2‐dependent increase in the secretion of IL‐10 (P < 0.01) and decrease in TNFα/IL‐10 ratio (P < 0.005) in the culture medium in both groups.ConclusionIncreased levels of TNFα and decreased levels of receptors in miscarriage villous tissue confirm an excessive placental inflammation in miscarriage patients.
Marathon of eponyms: 23 Wegener granulomatosis
Authors: Scully C , Langdon J , Evans J 
Published: January 2012

Oral Diseases (2012) 18, 214–216The use of eponyms has long been contentious, but many remain in common use, as discussed elsewhere (Editorial: Oral Diseases. 2009: 15; 185). The use of eponyms in diseases of the head and neck is found mainly in specialties dealing with medically compromised individuals (paediatric dentistry, special care dentistry, oral and maxillofacial medicine, oral and maxillofacial pathology and oral, oral and maxillofacial radiology and maxillofacial surgery) and particularly by hospital‐centred practitioners. This series has selected some of the more recognized relevant eponymous conditions and presents them alphabetically. The information is based largely on data available from MEDLINE and a number of internet websites as noted below: the authors would welcome any corrections. This document summarizes data about Wegener granulomatosis.
A first formal classification of the Hardeveld vegetation in Namaqualand, South Africa
Authors: Luther‐Mosebach Jona , Dengler Jürgen , Schmiedel Ute , Röwer Inga Ute , Labitzky Timo , Gröngröft Alexander 
Published: January 2012

AbstractQuestionsThe Succulent Karoo is a winter‐rainfall desert in southern Africa with a highly diverse flora. Which environmental factors differentiate vegetation composition at the plot level: How can compositional pattern be best represented by a formal phytosociological classification.LocationSoebatsfontein communal area and surroundings in the Namaqualand Hardeveld Bioregion of the Succulent Karoo Biome, Northern Cape Province, South Africa.MethodsWe recorded vascular plant species composition, together with a range of structural and soil parameters as well as grazing intensity, in 355 plots of 100 m² size. This sample covered all vegetation types of the study area except those of river beds and anthropogenic sites. Vegetation classification was carried out using modified TWINSPAN followed by manual re‐arrangement of a subset of plots with the aim of increasing floristic distinctiveness of the vegetation units. For the final vegetation units, we determined diagnostic species and environmental parameters, according to phi‐values and ANOVA, respectively, and translated these into a phytosociological classification.ResultsThe major factor influencing species composition and richness was soil salinity. At a broad scale, the less saline sites could be differentiated into sandy plains and rocky hills, and the saline sites into quartz fields, the centres of heuweltjies (termitaria) and the matrix between. We translated these patterns into two phytosociological classes with four orders, six alliances and 16 associations. Most of the syntaxa are very well defined in floristic terms, and all except the Othonnion cylindricae are new to science. The Hermannio trifurcae‐Zygophylletea morgsanae represents the zonal vegetation of marginally saline soils, the Didelto carnosae‐Cephalophylletea inaequalis the vegetation of saline soils. The vegetation of the extremely saline quartz patches probably belongs to a third class not described here due to the scarcity of representative plots.ConclusionsOur phytosociological approach allowed the various degrees of ecological and floristic similarity to be represented by syntaxa of different ranks. A comparison with previous classifications from the Succulent Karoo revealed a high spatial turnover, with only two of our alliances and none of our associations coinciding with those found in previously studied areas of the Succulent Karoo. Our formal classification has the potential to be a powerful tool for local land use, ecological comparison and conservation, and to contribute to a future national phytosociological classification of South Africa.
The fencing paradigm in woodland conservation: consequences for recruitment of a semi‐arid tree
Authors: Aschero Valeria , García Daniel 
Published: January 2012

AbstractQuestionHow does long‐term fencing against large domestic herbivores affect regeneration of the dominant tree,Prosopis flexuosa, and hence the structure of semi‐arid woodlands?LocationWoodlands in theCentralMonteDesert biome ofArgentina,ÑacuñánMan and theBiosphereReserve area (34° 20′ S, 67° 58′ W) and surrounding cattle‐grazed ranches.MethodsWe compared seedling emergence and survival, the spatial distribution of seedlings and saplings, and the population stage‐based structure ofP. flexuosabetween paired sites inside and outside theReserve ofÑacuñán (Argentina), which has been fenced to exclude domestic cattle for ca. 40 yr.ResultsReserve sites had lower tree recruitment and seedling emergence, in spite of having greater seed production and seedling survival. Outside the reserve, survival was higher for seedlings in high‐density clumps than for isolated seedlings. Seedling clumps occurred mostly near adult individuals, where cattle dung was abundant, suggesting an effect of cattle on seed dispersal. The balance between the effects of cattle exclusion on seedling emergence and on seedling survival was reflected in the stage structure ofP. flexuosawoodlands, as populations at fenced sites were dominated by adult individuals, whereas those at cattle‐grazed areas presented greater proportions of seedlings and saplings.ConclusionFencing is a common practice used worldwide to exclude conservation areas from human disturbance. For example, it is assumed that disturbed woodlands may recover after fencing, thanks to increased tree recruitment after the exclusion of large herbivores. However, the actual effectiveness of fencing as a tool for forest conservation in overgrazed environments could be controversial because sequential effects of herbivores during the tree regeneration cycle may hamper predictions of the overall balance of the recruitment process. Our results suggest that dispersal by cattle influences the regeneration ofP. flexuosawoodlands, and that the positive effects of cattle on seedling emergence compensate for the negative effects on seed production and seedling and sapling survival. Future management ofP. flexuosawoodlands in theCentralMonteDesert should consider that tree recruitment is closely related to land use, and that cattle exclusion does not necessarily guarantee woodland recovery in the long term.
EVALUATION OF THE NUTRITIONAL QUALITY OF NONTOXIC KERNEL FLOUR FROM JATROPHA CURCAS L. IN RATS
Authors: MARTINEZ HERRERA JORGE , JIMENEZ MARTINEZ CRISTIAN , MARTINEZ AYALA ALMA , GARDUÑO SICILIANO LETICIA , MORA ESCOBEDO ROSALVA , DAVILA ORTIZ GLORIA , CHAMORRO CEVALLOS GERMAN , MAKKAR HARINDER , FRANCIS GEORGE , BECKER KLAUS 
Published: January 2012

ABSTRACTThe origin of Jatropha curcas L. is in Central America, probably Mexico, although it is also distributed in South America, Africa and Asia. In Mexico, it grows as nontoxic and toxic J. curcas genotypes. In this work, the protein quality including protein efficiency ratio (PER), net protein ratio (NPR) and true digestibility (TD) of nontoxic genotype defatted flour was assessed using Wistar rats. The probed diets contained flour (3), flour‐lysine, 1% (4), flour‐phytase, 500 FTU (5) and two control diets: nitrogen‐free (1) and casein (2). The rats were fed for 28 days. The PER (1.37, 1.77 and 1.61) and NPR (1.80, 2.29 and 2.12) obtained values for diets (3.4 and 5) were lower than those obtained for casein (2.07 and 2.46), respectively. No statistical differences were found in TD.PRACTICAL APPLICATIONSJatropha curcas defatted flour may be used in the food industry for the development of diets for human and animal consumption. Besides achieving fortification of foods that are made from wheat, which has a low protein content, with the addition of Jatropha meal, these foods will improve the protein quality of many food products.
Perceived weight gain, risk, and nutrition in pregnancy in five racial groups
Authors: Brooten Dorothy , Youngblut JoAnne M. , Golembeski Susan , Magnus Marcia H. , Hannan Jean 
Published: January 2012

AbstractObjective: Examine perceived pregnancy weight gain needed, perceived risks to mother, and infant of excessive weight and underweight, perceptions of actual, ideal, realistic body size, nutritional intake in five racial/ethnic groups.Design: Cross‐sectionalSetting: Physicians’ officesParticipants: A total of 54 women <20 weeks gestationMethods: Questionnaires‐perceived weight gain needed, risks of weight gain for mother, infant, perceptions of body size, food frequency.Results: A total of 39% of women are overweight or obese (57% Caribbean Black, 50% African American). Perceived pregnancy weight gain needed highest in Central American Hispanic women, lowest Caribbean Black women. African‐American women had low perceived risk for mother and infant of gaining too much pregnancy weight, highest perceived risk for both of gaining too little. Caribbean Black women perceived highest risk to mother of gaining too much pregnancy weight, highest risk to infant of gaining too little. White Non‐Hispanic women reported smaller prepregnant, ideal, realistic body sizes than other four groups. Daily caloric intake ranged from 599 to 5856 calories. African‐American women had significantly more calories; protein, total fats, monounsaturated, polyunsaturated, and saturated fats; carbohydrates, sugar; and iron than White Non‐Hispanic women. Women in each racial/ethnic group had less than recommended intake of protein, carbohydrates, calcium, iron, folate, and fiber.Conclusions: Education is needed to raise awareness of risks of prepregnancy weight and excessive weight gain for mother and infant. The need for prenatal nutritional counseling to reduce the intake of calories, fats, sweets, and snacks; increase intake of vegetables, fruits, foods with iron, folate, and fiber.
Prehypertension: A literature‐documented public health concern
Authors: Hernandez Johnanna , Anderson Stoerm 
Published: January 2012

AbstractPurpose: To provide nurse practitioners (NPs) with an overview of prehypertension identification and management. Additionally, the article serves to highlight the prevalence and impact of prehypertension in the United States.Data sources: A comprehensive review of the literature was conducted using multiple databases, including PubMed, Medline, CINAHL, and SAGE Health Sciences databases. The review was not limited by discipline, year of publication, or type of research. Key words used to obtain relevant articles included prehypertension, nurse practitioner, health promotion, disease prevention, hypertension, and chronic disease.Conclusions: Approximately 70 million individuals have been recognized as prehypertensive in the United States, placing them at increased risk for hypertension and cardiovascular disease. Identifying and managing prehypertension has been recognized in national health policy as a priority to improve public health. Prehypertension is managed primarily by eliminating risk factors and implementing lifestyle modification.Implications for practice: Health promotion and disease prevention form the cornerstone of the NP role. The designation of prehypertension serves as an opportunity for NPs to assist in decreasing the burden on the health system from chronic disease and improve patient quality of life.
Exercise‐induced bronchospasm: A case study in a nonasthmatic patient
Authors: Hayden Mary Lou , Stoloff Stuart W. , Colice Gene L. , Ostrom Nancy K. , Eid Nemr S. , Parsons Jonathan P. 
Published: January 2012

AbstractPurpose: To provide an overview of the clinical presentation, diagnosis, and management of exercise‐induced bronchospasm (EIB) without underlying asthma.Data sources: Case presentation and review of the EIB Landmark Survey.Conclusions: EIB is a common and well‐described occurrence in patients with asthma, as well as in patients with no overt respiratory condition. Treatment with a short‐acting beta‐agonist before starting exercise is effective, yet this treatment approach is underutilized in the majority of patients with asthma.Implications for practice: This case highlights the implications of undermanaged EIB and the disconnect between healthcare provider recommendations and the beliefs and behaviors in patients with EIB. Inhaled short‐acting beta‐agonists can attenuate EIB in 80%–95% of patients and are effective during 2–3 h of exercise. Patients with a compromised level of physical activity because of EIB who do not respond to conventional treatment strategies should be referred to a respiratory specialist for diagnostic evaluation and confirmation of underlying asthma. Nurse practitioners should remain vigilant to identify untreated EIB and ensure that affected patients understand the condition and appropriate treatment options.
Trust and Treason: Social Network Structure as a Source of Flexibility in Peace Negotiations
Authors: Lilja Jannie 
Published: January 2012

AbstractTo reach a negotiated peace settlement, the parties to the conflict have to show flexibility in their negotiation positions. This article examines why some rebel groups are flexible on the main issue of contention, whereas others are not. The study explores rebels’ social network structure as a source of negotiation flexibility. The proposition that a rebel group structured as a “trust network” can manage the risks of peace making through a “trust mechanism” of information sharing, verification, and mutual influence between rebel negotiators and non‐negotiating rebel leaders, is consistent with a procedural justice logic. The proposition is analyzed for negotiations between LTTE and the Sri Lankan government, and Gerakan Aceh Merdeka (GAM) and the Indonesian government. The findings support the proposition, and highlight the potential of social network analysis to further the understanding of conflict resolution. Policy wise, the evolution of network structure implies that the likelihood of negotiation success varies over time.
Effects of Substituents on Synthetic Analogs of Chlorophylls. Part 3: The Distinctive Impact of Auxochromes at the 7‐ versus 3‐Positions
Authors: Springer Joseph W. , Faries Kaitlyn M. , Diers James R. , Muthiah Chinnasamy , Mass Olga , Kee Hooi Ling , Kirmaier Christine , Lindsey Jonathan S. , Bocian David F. , Holten Dewey 
Published: January 2012

AbstractAssessing the effects of substituents on the spectra of chlorophylls is essential for gaining a deep understanding of photosynthetic processes. Chlorophyll a and b differ solely in the nature of the 7‐substituent (methyl versus formyl), whereas chlorophyll a and d differ solely in the 3‐substituent (vinyl versus formyl), yet have distinct long‐wavelength absorption maxima: 665 (a) 646 (b) and 692 nm (d). Herein, the spectra, singlet excited‐state decay characteristics, and results from DFT calculations are examined for synthetic chlorins and 131‐oxophorbines that contain ethynyl, acetyl, formyl and other groups at the 3‐, 7‐ and/or 13‐positions. Substituent effects on the absorption spectra are well accounted for using Gouterman’s four‐orbital model. Key findings are that (1) the dramatic difference in auxochromic effects of a given substituent at the 7‐ versus3‐ or 13‐positions primarily derives from relative effects on the LUMO+1 and LUMO; (2) formyl at the 7‐ or 8‐position effectively “porphyrinizes” the chlorin and (3) the substituent effect increases in the order of vinyl < ethynyl < acetyl < formyl. Thus, the spectral properties are governed by an intricate interplay of electronic effects of substituents at particular sites on the four frontier MOs of the chlorin macrocycle.
Phylogenetic clustering increases with elevation for microbes
Authors: Wang Jianjun , Soininen Janne , He Jizheng , Shen Ji 
Published: January 2012

SummaryAlthough phylogenetic approaches are useful for providing insights into the processes underlying biodiversity patterns, the studies of microbial phylogenetic relatedness are rare, especially for elevational gradients. Using high‐throughput pyrosequencing, we examined the biodiversity patterns for biofilm bacterial communities that were scraped from stream stones along an elevational gradient from 1820 to 4050 m in China. The patterns of bacterial species richness and phylogenetic diversity were hollow towards higher elevations. The bacterial communities consisted of closer relatives than expected and displayed increasing terminal phylogenetic clustering towards mountain top. The increasing phylogenetic clustering with elevation contrasts reports for macroorganisms that revealed phylogenetic overdispersion at low or intermediate elevations. Because water temperature showed the strongest correlation with phylogenetic relatedness (r2 = 0.516), the elevational pattern in the bacterial phylogenetic structure indicated that environmental filtering possibly due to lower temperature or more frequent temperature fluctuations increased towards higher elevations. Evidence supporting the environmental filtering on bacteria was also reflected by the orderly succession in the relative abundance of different bacterial phyla along the elevational gradient and in the high evenness of bacterial taxa at higher elevations. Overall, our results indicated that ecological processes possibly related to temperature may play a dominant role in structuring bacterial biodiversity along the elevational gradient.