bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variation in phenotypic appearance of Graves' disease: effect of genetic anticipation and duration of complaints
Authors: Vos Xander G , Smit Natalie , Endert Erik , Tijssen Jan G P , Wiersinga Wilmar M 
Published: May 2009

ObjectiveBoth genetic and environmental factors contribute to susceptibility of Graves' disease. In this study, we evaluated whether the duration of symptoms or a positive family history of autoimmune thyroid disease (AITD) are related to specific phenotypes in patients with a first episode of Graves' hyperthyroidism (GH).DesignCross-sectional multicentre observational study.PatientsTwo hundred and sixty-three consecutive untreated patients (mean age (±s.d.) 42.6±12.4 years; range 16–79 years) with a first episode of GH were included. Biochemical and clinical severity of GH was evaluated. Participants were asked to complete questionnaires about environmental factors (smoking behavior, use of estrogens, stress etc.), the duration of symptoms (interval between start of symptoms and date of referral) and family history for AITD. We ascertained the autoimmune nature of thyroid disease in affected relatives. Family history scores (FHS; high score indicating a close genetic relationship and/or a large number of affected relatives) were calculated for patients with a positive family history for AITD.ResultsThe peak incidence for the diagnosis of GH was 2–3 months after onset of symptoms (32% of patients). Duration of symptoms was negatively associated with age (P for trend=0.04). A positive family history for AITD was present in 42.6% of patients. Patients with the highest FHS were more often male (P=0.01) while age at onset was lower (P=0.02) compared to patients with a lower FHS. Among patient groups with different FHS, no differences were found in exposure to environmental factors, nor in clinical or biochemical severity of hyperthyroidism.ConclusionOur study does not support the hypothesis that a short duration of thyrotoxic symptoms until diagnosis is related to more severe hyperthyroidism in Graves' disease. We have found supporting evidence for the existence of genetic anticipation in Graves' disease by means of a lower age of onset in the group with the highest FHS.
Increased carotid intima-media thickness in pre-pubertal children with constitutional leanness and severe obesity: the speculative role of insulin sensitivity, oxidant status, and chronic inflammation
Authors: Giannini C , de Giorgis T , Scarinci A , Cataldo I , Marcovecchio M L , Chiarelli F , Mohn A 
Published: May 2009

DesignIn order to characterize whether different degrees of adipose tissue storage may be associated with markers of early atherosclerosis, we evaluated oxidant–antioxidant status and inflammatory markers and determined carotid intima-media thickness (cIMT) in healthy constitutional lean and obese pre-pubertal children.MethodsEighty healthy pre-pubertal lean and obese children were recruited and compared with 40 age, gender, and pubertal stage-matched normal controls. Anthropometric measurements, oxidant (urinary isoprostanes (PGF-2α), lag phase, and malondialdehyde (MDA)) and antioxidant status (vitamin E), inflammatory markers (high sensitive C-reactive protein (hs-CRP)), and insulin sensitivity (fasting glucose–insulin ratio, homeostasis model assessment of insulin resistance (HOMA-IR)) were investigated. Furthermore, cIMT was measured by high-resolution ultrasound.Resultshs-CRP was not different between lean and control subjects (P=0.45), while higher values were found in obese compared with lean and control children (P<0.001 and P<0.001 respectively). PGF-2α and MDA were higher while lag phase shorter in lean and obese subjects compared with controls (lean P<0.001; P<0.001; P<0.001 and obese P<0.001; P<0.001; P<0.001 respectively), while no differences were documented between lean and obese subjects (P=0.78, P=0.019, and P=0.53 respectively). Compared with controls, cIMT was increased in lean and in obese subjects (P=0.001; P=0.004), while no differences were documented between obese and lean subjects (P=0.1). In a multiple stepwise linear regression analysis, cIMT was related with PGF-2α (β=0.641, P<0.001) and HOMA-IR (β=0.307; P<0.001).ConclusionsPre-pubertal lean and obese children present increased oxidative stress and impaired inflammation and insulin sensitivity, which in turn seem to result in similar impaired endothelial dysfunction and early signs of atherosclerosis, already in childhood.
A corticotroph pituitary adenoma as the initial presentation of familial glucocorticoid deficiency
Authors: Benoit Isabelle , Drui Delphine , Chaillous Lucy , Dupas Benoît , Mosnier Jean-François , Charbonnel Bernard , Cariou Bertrand 
Published: May 2009

ContextFamilial glucocorticoid deficiency (FGD) is a rare autosomal recessive ACTH-resistance syndrome characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Here, we report the case of a young woman with a corticotroph pituitary adenoma as the initial presentation of FGD.Case reportA 15-year-old girl was referred to our institution for a 16 mm pituitary adenoma associated with glucocorticoid deficiency. Clinical and biological features were evocative of FGD. DNA sequencing did not identify mutations in either the melanocortin 2 receptor (MC2R) or the MC2R accessory protein genes, indicating type 3 FGD. Despite adequate glucocorticoid replacement, plasma ACTH levels remained increased and pituitary magnetic resonance imaging (MRI) showed a progression of the tumour size resulting in optic chiasm compression with intra-tumoural haemorrhaging. When the patient was 26 years old, it was decided that she would undergo transsphenoidal surgery. The histomorphological analysis identified a well-individualized pituitary adenoma immunoreactive for ACTH. The proband's sister also exhibited type 3 FGD associated with pituitary hyperplasia upon MRI.ConclusionThis case highlights the relationship between FGD and hyperplasia of ACTH-producing cells, potentially leading to histologically proven pituitary corticotroph adenomas. This observation raises the question of the pituitary MRI's significance in the follow-up of FGD.
Rapid Maxillary Expansion after Secondary Alveolar Bone Grafting in Patients with Alveolar Cleft
Authors: da Silva Filho Omar Gabriel , Boiani Elaine , de Oliveira Cavassan Arlete , Santamaria Milton 
Published: May 2009

Objective: To test the hypothesis that it is possible to perform rapid maxillary expansion (RME) after alveolar bone grafting in patients with clefts of the lip and palate (CLP) without compromising the final result of the bone graft. Design: Occlusal and periapical radiographs of the grafted area of 17 unilateral and 11 bilateral patients with CLP (n  =  28) were obtained before and after RME. Setting and sample population: Hospital for Rehabilitation of Craniofacial Anomalies (HRAC), University of São Paulo. Twenty-eighty patients with CLP who had undergone RME. Interventions: RME was performed in patients with CLP who had already undergone RME before secondary bone grafting but with relapse of the maxillary dental arch constriction, as well as in patients with CLP who had never undergone expansion before bone grafting. Outcome measure: Qualitative evaluation in occlusal and periapical radiographs after alveolar bone grafting. Results: Findings showed opening of the midpalatal suture in 42.8% of patients in this study. Regardless of the success rate of RME, the alveolar bone grafting was not affected when the procedures were inverted. Conclusion: The hypothesis was accepted. RME can be performed after secondary alveolar bone grafting without affecting it.
Craniofacial and Pharyngeal Cephalometric Morphology in Seven-Year-Old Boys with Unoperated Submucous Cleft Palate and without a Cleft
Authors: Heliövaara Arja , Rautio Jorma 
Published: May 2009

Objective: To evaluate cephalometrically the craniofacial and pharyngeal morphology in 7-year-old boys with unoperated submucous cleft palate and to compare the findings with the morphology of 7-year-old boys without clefts. Setting and Patients: Thirty-two boys with unoperated submucous cleft palate and 49 boys without a cleft were compared retrospectively from lateral cephalograms taken at the mean age of 7 years (range, 5.5 to 8.6 years). Design: A retrospective case-control study. Outcome Measure: Linear and angular measurements were obtained from lateral cephalograms. A Student's t test was used in the statistical analysis. Results: The maxilla of the boys with submucous cleft palate was shorter and slightly more retrusive in relation to the cranial base than that of boys without clefts. Also, the mandible of the boys with submucous cleft palate was smaller, with a steeper mandibular plane. The relationship between the jaws was similar in both groups; although, those without clefts showed higher values for soft tissue maxillary prominence. In the pharyngeal area, the boys with submucous cleft palate had larger nasopharyngeal depths, smaller hypopharyngeal depths, and shorter soft palates than the boys without a cleft. Conclusions: This small study suggests that the boys with unoperated submucous cleft palate have minor distinctive morphological features in the maxillary, mandibular, and pharyngeal areas.
Increased Frequency of Left-Handedness in Patients with Unilateral Coronal Synostosis
Authors: Oh Albert K. , Mulliken John B. , LaBrie Richard A. , Rogers Gary F. 
Published: May 2009

Objective: Left-handedness reportedly has been more common in persons with neurological afflictions (e.g., stroke) and malformations (e.g., cleft lip with or without cleft palate) that demonstrate marked unilateral involvement. Coronal synostosis is also more frequently unilateral, affecting the right side more commonly than the left. We sought to compare left-handedness in patients with unilateral coronal synostosis versus healthy controls. Subjects: All patients aged 3 years or older with nonsyndromic unilateral coronal synostosis and healthy controls recruited by pediatricians blinded to the study. Main Outcome Measures: Prospective data obtained for all participants included age, gender, and handedness. In patients with unilateral coronal synostosis, the side of synostosis and age at surgery were documented. Left-handedness in the study and control groups was compared using chi-square analysis. Left-handedness also was analyzed in the study group according to side of fusion. Results: Eighty-six patients with nonsyndromic unilateral coronal synostosis comprised the study group; there were 96 controls. The mean ages of the study (8.8 years) and control groups (9.8 years) were not statistically different (p > .05). There were more girls in the study group (67%) than in the control group (56%), but this difference was not statistically significant (p > .05). Left-handedness was documented in 30.2% of the study group and 11.4% of the control group (p < .005). Left-handedness was twice as common in patients with left versus right unilateral coronal synostosis (44.4% versus 20.4%; p < .05). Conclusions: Left-handedness is nearly three times more common in patients with unilateral coronal synostosis than in controls and four times more likely in patients with left-sided fusion.
New Diagram for Cleft Lip and Palate Description: The Clock Diagram
Authors: Rossell-Perry Percy 
Published: May 2009

Objectives: The current classification diagrams for cleft lip and palate are descriptions of the components involved in the cleft, but they do not consider in detail the severity of distortion. We sought to establish a new diagram (the Clock Diagram) for cleft lip and palate, which describes the pathology according to the severity of distortion of the nose, lip, and primary and secondary palate, and to apply this classification scheme toward treatment selection. Methods: The method is based on surgical results obtained from 1043 cleft lip and palate patients operated by the author between 1996 and 2007, under the protocol based on our classification. To further illustrate the classification and diagram method, two types of clefts are described, using the proposed diagram and compared with Kernahan's diagram. Results: This new diagram describes the cleft's severity using terminology from our clinic's classification of cleft severity. In comparison with Kernahan's diagram, the Clock Diagram more effectively demonstrates a cleft's severity. I have observed a higher incidence of lip and palate revision in severe clefts. Conclusions: The Outreach Program Lima Clock Diagram classifies the severity of the cleft and affords an individualized description of cleft morphology. I have observed a direct relation between cleft severity and the number of poor outcomes in our patients.
Ontogenetic Mechanisms Underlying a Geographic Size Cline in a Grasshopper, Romalea microptera
Authors: Jannot Jason E , Brinton Jessica , Kocot Kevin , Akman Olcay , Juliano Steven A 
Published: May 2009

Abstract
Geographic clines in body size have been described for many species, but relatively few investigations have tested hypotheses for the ontogenetic mechanisms maintaining geographic clines. We formalize and test the predictions for the role of ontogenetic mechanisms (e.g., hatching timing and size, juvenile developmental time, juvenile growth rate) in maintaining a longitudinal cline in adult body size of lubber grasshoppers [Romalea microptera (Beauvois)]. To obtain hatching timing and size, we collected eggs from wild females from several populations along the longitudinal gradient in 2 yr (2006 and 2007) and measured hatchling size and hatch date. To obtain juvenile developmental time and growth rates, we surveyed populations along the longitudinal gradient during 2 yr (2006 and 2007) and estimated developmental time and growth rates. We found the developmental time (hatching to fourth instar) and female growth rates increase from west to east along the cline. Patterns of hatching timing and hatching size were not consistent with the size cline. The size cline becomes evident in the third instar and is magnified in the fourth and fifth instars. Our data suggest that the size cline arises from some combination of clinal variation in developmental time and female growth rates; prolonged development and greater growth rates lead to larger mean size. Equally important, we found no evidence that differences in hatching time or size are ontogenetic causes of this cline. Our hypotheses for ontogenetic mechanisms producing an adult size cline should serve as a template for ecologists seeking to understand the ontogenetic basis of spatial variation in phenotypes.
Impact of Kerogen Heterogeneity on Sorption of Organic Pollutants. 1. Sorbent Characterization
Authors: Yang Chen , Huang Weilin , Fu Jiamo , Dang Zhi 
Published: May 2009

Abstract
The overall goal of the present study was to establish correlations between organic pollutant sorption and physicochemical properties of kerogen materials. Three coal samples, each representing a typical kerogen type, were used as the starting materials. A thermal technique was employed to treat the kerogen materials under seven different temperatures ranging from 200 to 500C to simulate different diagenetic history. These samples were systematically characterized for their chemical compositions, functionalities, physical rigidity, and optical properties. The results showed that the chemical, spectroscopic, and optical microscopic properties of each kerogen series changed consistently as a function of treatment temperature or kerogen maturation. The oxygen-to-carbon atomic ratio decreased from 0.29, 0.12, and 0.07 for the original lignite (XF0), fusinite (HZ0), and lopinite (LP0) samples, respectively, to 0.07, 0.06, and 0.04 for XF7, HZ7, and LP7, respectively, that underwent the highest temperature treatment. The hydrogen-to-carbon atomic ratio exhibited similar reducing trend, which is consistent with the aromaticity increasing from 45 to 58% of the original samples to 76 to 81% of highly mature samples. Under the fluorescence microscope, the organic matrix changed from yellow (original lignite sample) and red-brown (original lopinite sample) to colorless for the samples of higher maturation. The measured reflecting index increased from the original samples to the highly mature samples. Moreover, the original and the slightly matured samples exhibited very different chemical compositions and structural units among the three types due to the difference in their source materials. As the kerogen maturation increased, such differences decreased, indicating highly mature kerogen became homogenized regardless of the source material.
The Lower Extremity Functional Scale Has Good Clinimetric Properties in People With Ankle Fracture
Authors: Lin Chung-Wei Christine , Moseley Anne M. , Refshauge Kathryn M. , Bundy Anita C. 
Published: May 2009

Background: There is limited information on the clinimetric properties of questionnaires of activity limitation in people after ankle fracture.Objective: The purpose of this study was to investigate the clinimetric properties of the Lower Extremity Functional Scale, an activity limitation questionnaire, in people with ankle fracture.Design: This was a measurement study using data collected from 2 previous randomized controlled trials and 1 inception cohort study.Methods: Participants with ankle fracture (N=306) were recruited within 7 days of cast removal. Data were collected at baseline and at short- and medium-term follow-ups. Internal consistency and construct validity were assessed using Rasch analysis. Concurrent validity, responsiveness, and floor and ceiling effects were evaluated.Results: The Lower Extremity Functional Scale demonstrated high internal consistency (α&gt;.90). The variance in activity limitation explained by the items was high (98.3%). Each item had a positive correlation with the overall scale, and most items supported the unidimensionality of the scale. These findings suggest that the scale has high internal consistency and construct validity. The scale also demonstrated high concurrent validity and responsiveness in the short term and no floor or ceiling effects. However, the scale would benefit from more-challenging items, as evident at the medium-term follow-up.Limitations: This was a secondary analysis of existing data sets.Conclusion: The Lower Extremity Functional Scale is a useful tool to monitor activity limitation in people with ankle fracture up to the short-term follow-up. More- difficult items may need to be added to improve the responsiveness of the scale for longer-term follow-up.
Evaluation of an Item Bank for a Computerized Adaptive Test of Activity in Children With Cerebral Palsy
Authors: Haley Stephen M. , Fragala-Pinkham Maria A. , Dumas Helene M. , Ni Pengsheng , Gorton George E. , Watson Kyle , Montpetit Kathleen , Bilodeau Nathalie , Hambleton Ronald K. , Tucker Carole A. 
Published: May 2009

Background: Contemporary clinical assessments of activity are needed across the age span for children with cerebral palsy (CP). Computerized adaptive testing (CAT) has the potential to efficiently administer items for children across wide age spans and functional levels.
Objective: The objective of this study was to examine the psychometric properties of a new item bank and simulated computerized adaptive test to assess activity level abilities in children with CP.
Design: This was a cross-sectional item calibration study.
Methods: The convenience sample consisted of 308 children and youth with CP, aged 2 to 20 years (X=10.7, SD=4.0), recruited from 4 pediatric hospitals. We collected parent-report data on an initial set of 45 activity items. Using an Item Response Theory (IRT) approach, we compared estimated scores from the activity item bank with concurrent instruments, examined discriminate validity, and developed computer simulations of a CAT algorithm with multiple stop rules to evaluate scale coverage, score agreement with CAT algorithms, and discriminant and concurrent validity.
Results: Confirmatory factor analysis supported scale unidimensionality, local item dependence, and invariance. Scores from the computer simulations of the prototype CATs with varying stop rules were consistent with scores from the full item bank (r=.93–.98). The activity summary scores discriminated across levels of upper-extremity and gross motor severity and were correlated with the Pediatric Outcomes Data Collection Instrument (PODCI) physical function and sports subscale (r=.86), the Functional Independence Measure for Children (Wee-FIM) (r=.79), and the Pediatric Quality of Life Inventory–Cerebral Palsy version (r=.74).
Limitations: The sample size was small for such IRT item banks and CAT development studies. Another limitation was oversampling of children with CP at higher functioning levels.
Conclusions: The new activity item bank appears to have promise for use in a CAT application for the assessment of activity abilities in children with CP across a wide age range and different levels of motor severity.
Relationship between intracranial hemodynamics and microdialysis markers of energy metabolism and glutamate-glutamine turnover in patients with subarachnoid hemorrhage
Authors: Samuelsson Carolina , Howells Timothy , Kumlien Eva , Enblad Per , Hillered Lars , Ronne-Engström Elisabeth 
Published: May 2009

Object
The aim of this study was to explore the relationship between hemodynamics (intracranial and systemic) and brain tissue energy metabolism, and between hemodynamics and glutamate (Glt)-glutamine (Gln) cycle activity.

Methods
Brain interstitial levels of lactate, pyruvate, Glt, and Gln were prospectively monitored in the neurointensive care unit for more than 3600 hours using intracerebral microdialysis in 33 patients with subarachnoid hemorrhage (SAH). Intracranial pressure (ICP), mean arterial blood pressure, and cerebral perfusion pressure (CPP) were recorded using a digitalized system.

Results
Interstitial Gln and pyruvate correlated with CPP (r = 0.25 and 0.24, respectively). Intracranial pressure negatively correlated with Gln (r = −0.29) and the Gln/Glt ratio (r = –0.40). Levels of Gln and pyruvate and the Gln/Glt ratio were higher and levels of Glt and lactate and the lactate/pyruvate ratio were lower during periods of decreased ICP (≤ 10 mm Hg) as compared with values in periods of elevated ICP (> 10 mm Hg). In 3 patients, a poor clinical condition was attributed to high ICP levels (range 15–25 mm Hg). When CSF drainage was increased and the ICP was lowered to 10 mm Hg, there was an instantaneous sharp increase in interstitial Glt and pyruvate in these 3 patients.

Conclusions
Increasing interstitial Gln and pyruvate levels appear to be favorable signs associated with improved CPP and low ICP. The authors suggest that this pattern indicates an energy metabolic situation allowing augmented astrocytic energy metabolism with accelerated Glt uptake and Gln synthesis. Moreover, their data raised the question of whether patients with SAH and moderately elevated ICP (15–20 mm Hg) would benefit from CSF drainage at lower pressure levels than what is usually indicated in current clinical protocols.