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Twenty-seven extant reports from medieval Europe and the Middle East of the total solar eclipse of AD 1133 (+1133) are analysed to set limits on the Earth rotation parameter ∆T. We conclude that at the epoch +1133, ∆T is in the range +720 <ΔT<+1110 seconds. [ABSTRACT FROM AUTHOR]

From a comparison with calculation of the dates and descriptions of the allusions to lunar and solar eclipses recorded in the Anglo-Saxon Chronicle, we confirm the identifications of the eclipses given by Swanton in his 1996 translation and annotation. The details of the analysis on which this is based are given in the supplementary material published as an appendix in the on-line edition of the Journal. [ABSTRACT FROM AUTHOR]

Analysis of 111 Chinese timings of solar and lunar eclipses in the period AD 434–1280 and of 56 Middle-Eastern timings in AD 829–1020 reveals that their accuracy approached the limiting resolution of their clock systems. The Chinese accuracy improved progressively over the period of observation, with the standard deviation reducing from approximately 18 minutes round about AD 600 to 7 minutes circa AD 1200. The Middle-Eastern timings have a standard deviation of 5 minutes around AD 950. [ABSTRACT FROM AUTHOR]

One hundred years ago, J.K. Fotheringham famously derived the "accelerations" of the Sun and Moon from the reports of 11 classical solar eclipses. We review critically the reliability of these eclipse reports and rework his diagrammatic method, treating the deceleration of the Earth's rotation as an unknown, rather than the "acceleration" of the Sun. There is some serendipity in his choice of the critical eclipses, which opportunely facilitated his derivation of seemingly accurate results for the accelerations. [ABSTRACT FROM AUTHOR]

The reports of seven eclipses of the Sun and Moon in Bede's Ecclesiastical History and its Continuation are investigated for their astronomical accuracy using modern-day calculations. The eclipses can all be identified from the given dates, which are accurate to within 2 days, except for one lunar eclipse. There is evidence that the reports were obtained from a range of sources beyond the NE of England, two possibly from as remote as Rome. From the lack of physical detail, we deduce that the interest in the eclipses was their relevance to historical matters, rather than in the phenomena themselves. [ABSTRACT FROM AUTHOR]

We investigate the date of observation of the Hipparchus eclipse using our latest measurement of historical variations in the Earth's rotation to plot the tracks of the potential eclipses. We conclude that Hipparchus most probably analysed the eclipse of −189 in deriving the distance to the Moon, as concluded by Toomer in 1974. [ABSTRACT FROM AUTHOR]

An analysis of the tracks of total and annular solar eclipses crossing China reveals that most of the reports of such eclipses in the treatises in the dynastic histories from 206  BC to AD 1368 were very probably recorded at the capital by the court astronomers. Some of the reports in the annals, on the other hand, could only have been based on observation if they originated from outside the capital, and in some cases from remote regions of China. Particular attention is paid to the eclipse of AD 454, which has importance for delineating the behaviour of the Earth’s rotation parameter ∆T. [ABSTRACT FROM AUTHOR]

The errors in the timings of the Almagest occultations are investigated to ascertain what contribution they made to Fotheringham and Longbottom’s 1915 result for the (tidal) acceleration of the Moon. It is found that their result is quite close to the modern value, once the apparent acceleration of the Moon due to the retardation of the Earth’s spin rate is removed. [ABSTRACT FROM AUTHOR]

Eliza Haywood's Fantomina (1725) and Anti-Pamela (1741) document an increasing social disapprobation for identity play within novels and a return to an understanding of class identity as an innate attribute. Applying Mary Jo Kietzman's theories of serial subjectivity to Haywood's novels brings into view the conflict between two different modes of identity construction in the mid-eighteenth century: identity as a matter of performance, and identity--particularly status--as fixed. Haywood departs from tradition by limiting her serial subjects, indicating an emerging social censure of this figure. The upward social mobility attempted by these protean characters appears to be their most objectionable quality, and as such these figures rehearse and respond to the problems at the centre of the Pamela controversy (1740). Haywood's texts and their engagement in this debate allow us to better conceptualize the intersections between identity and status, and narration and plot, that were central to the development of the early novel. [ABSTRACT FROM AUTHOR]

Objectives. The main aims of the present study were to explore the illness representations of individuals with multiple sclerosis (MS) and investigate the relationship of these beliefs to outcome. Based on Leventhal et al.'s self-regulation model, the commonly accepted generic five-component structure of illness representations including identity, time-line, consequences, cause, and cure/controllability was used. Design. A cross-sectional, correlational design was employed for the study. Interrelationships among the illness representation components and the relationships between the components and outcome were explored using Pearson's r. To determine the contribution of the illness representation components to the explained variance in outcome, a series of stepwise multiple regression analyses was used. Method. A total of 99 participants took part in the study. A series of measures were completed to assess (1) illness representations and (2) five specific areas of outcome. Results. Participants' illness representations of MS were consistent with the medical nature and understanding of this illness indicating that they held the perceptions of a strong illness identity, chronic time-line, no particular cause and no cure. Beliefs in the serious consequences of MS and limited control were also reported. Some important interrelationships among the illness representation components were demonstrated where a strong illness identity, chronic time-line view and perception of low control were related to more serious consequences. Overall, evidence was provided to suggest that illness representations contribute to outcome. The consequences component was associated with, and contributed to, the explained variance for each of the five outcome areas, indicating that the perception that MS has many negative effects on an individual's life was... [ABSTRACT FROM AUTHOR]

Context: Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly(A) binding protein 2 (PABP2) and is found in isolated cohorts throughout the world. We have observed numerous cases of OPMD in New Mexico.Objective: To characterize the clinical, genetic, and demographic features of the OPMD population in New Mexico.Design, Setting, and Participants: Cohort study with analysis of outpatient clinic medical records from 1965 to 2001 at the University of New Mexico Hospital and the New Mexico VA Health Care System in Albuquerque, which serve the entire state.Main Outcome Measures: Clinical phenotype, supplemented with genetic confirmation (n = 10 patients) and in-depth clinical evaluations (n = 49 patients).Results: We identified 216 cases of OPMD (99 women and 117 men) from 39 kindreds of New Mexicans spanning up to 4 generations. All patients were Hispanic, and the majority of probands came from northern New Mexico. In patients who had both ocular and pharyngeal muscle weakness, ptosis was just as likely to occur before or concurrent with dysphagia. Proximal limb muscle weakness and gait abnormalities were common and occurred later than ocular or pharyngeal weakness. The clinical expression of OPMD caused marked debility, although life-table analysis showed no decrease in life expectancy compared with unaffected family members (P =.81). Ten individuals from different kindreds were found to have an identical polyalanine triplet repeat expansion ([GCG](9)) in the PABP2 gene.Conclusions: Individuals in this cohort had clinical and genetic characteristics of classic OPMD. Longevity was not affected, but patients experienced considerable morbidity. The origin of the PABP2 mutation in New Mexican OPMD patients is unclear, although the geographic and genetic isolation of northern New Mexicans with a long ancestry in this region may have contributed to the development of this cohort. This disease cohort represents a large and previously unrecognized health care issue in the state of New Mexico and should serve to raise the awareness of this disorder among clinicians who treat Hispanics in the Southwest and throughout the United States. [ABSTRACT FROM AUTHOR]

Examines the peer mediation and monitoring strategies in improving initiations and social skills for students with autism in the United States. Effects of student interactions with peers; Characteristics of students with autism; Interobserver agreement for social interaction data.

Leslie Morrison and Catherine Hohenkerk consider the future direction of the leap second [ABSTRACT FROM AUTHOR]

Leslie Morrison and F Richard Stephenson explore the records of the Viking eclipse of AD 1263, a cautionary tale about historical accounts of eclipses. [ABSTRACT FROM AUTHOR]

Cerebrovascular malformations occur in both sporadic and inherited patterns. This paper reviews imaging and clinical features of cerebrovascular malformations with a genetic basis. Genetic diseases such as familial cerebral cavernous malformations and hereditary hemorrhagic telangiectasia often have manifestations in bone, skin, eyes, and visceral organs, which should be recognized. Genetic and molecular mechanisms underlying the inherited disorders are becoming better understood, and treatments are likely to follow. An interaction between the intestinal microbiome and formation of cerebral cavernous malformations has emerged, with possible treatment implications. Two-hit mechanisms are involved in these disorders, and additional triggering mechanisms are part of the development of malformations. Hereditary hemorrhagic telangiectasia encompasses a variety of vascular malformations, with widely varying risks, and a more recently recognized association with cortical malformations. Somatic mutations are implicated in the genesis of some sporadic malformations, which means that discoveries related to inherited disorders may aid treatment of sporadic cases. This paper summarizes the current state of knowledge of these conditions, salient features regarding mechanisms of development, and treatment prospects. • Radiologists improve diagnosis and assessment of these diseases by recognizing systemic manifestations. • Features suspicious for CCM or HHT in the CNS or elsewhere in the body should lead to optimized imaging for each. • Understanding genetic and molecular mechanisms underlying these diseases will likely lead to new treatment options. • Molecular mechanisms in these diseases may be relevant to sporadic vascular malformations involving somatic mutations. [ABSTRACT FROM AUTHOR]

Primates can respond to food availability shortages by increasing the energy they invest in searching for alternative food resources or by conserving energy by altering their diet while reducing movement. To gain information on the ecological flexibility of Beni titi monkeys (Plecturocebus modestus), we assessed seasonal variation in the behavior and ranging and feeding patterns of two focal groups across a year. We recorded group behaviors using instantaneous group scan sampling and used all occurrence sampling to collect ranging and feeding data (1,178 observation hours in the dry season, and 1,202 in the wet season). We collected data on food availability via monthly phenology monitoring. We found that during the fruit-scarce dry season, these frugivorous primates significantly reduced their monthly investment in moving and increased their consumption of flowers. They also showed some decrease in fruit consumption, home ranges and daily path length. Our observations of a diet shift to a high intake of alternative foods and reduction of time spent on moving suggest that the P. modestus groups that we studied used an energy-area minimizing strategy when fruits were less available. While we found that P. modestus could find food in the naturally fragmented forests, high levels of ongoing anthropogenic forest fragmentation may lead to reductions in important food resources, threatening the survival of these Endangered primates. This study shows the ecological flexibility of primates and provides important information to be incorporated in the design of specific effective conservation actions for this threatened an endemic species, as well as highlights the importance of mitigating the current threats to these forest ecosystems. [ABSTRACT FROM AUTHOR]

6-Deoxyheptose is found within the surface polysaccharides of several bacterial pathogens. In Yersinia pseudo tuberculosis, it is important for the barrier function of the O-antigen in vitro and for bacterial dissemination in viva. The putative C6 dehydratase DmhA and C4 reductase DmhB, that were identified as responsible for 6-deoxyheptose synthesis based on genetics data, represent potential therapeutical targets. Their detailed biochemical characterization is presented herein. The substrate, GDP-D-glycero-D-manno-heptose, was synthesized enzymaticalty from sedoheptulose 7-phosphate using overexpressed and purified GmhA/B/C/D enzymes from Aneurinibacillus thermoaerophilus. Overexpressed and purified DmhA used this substrate with high efficiency, as indicated by its Km of 0.23 mM and Kcat of 1.1 s-1. The mass spectrometry (MS) analysis of the reaction product was consistent with a C6 dehydration reaction. DmhB could readily reduce this compound in the presence of NAD(P)H to produce GDP-6-deoxy-D-manno-heptose, as indicated by MS and NMR analyses. DmhA also used GDP-mannose as a substrate with a Km of 0.32 mM and a kcat of 0.25 min-1. This kinetic analysis indicates that although the Km values for GDP-mannose and GDP-manno-heptose were similar, the genuine substrate for DmhA is GDP-manno-heptose. DmhB was also able to reduce the GDP-4-keto-6-deoxymannose produced by DmhA, although with poor efficiency and exclusively in the presence of NADPH. This study is the first complete biochemical characterization of the 6-deoxyheptose biosynthesis pathway. Also, it allows the screening for inhibitors, the elucidation of substrate specificity determinants, and the synthesis of carbohydrate antigens of therapeutic relevance. [ABSTRACT FROM AUTHOR]

Background: To investigate whether common variants in EPHB4 and RASA1 are associated with cerebral cavernous malformation (CCM) disease severity phenotypes, including intracranial hemorrhage (ICH), total and large lesion counts. Methods: Familial CCM cases enrolled in the Brain Vascular Malformation Consortium were included (n = 338). Total lesions and large lesions (≥5 mm) were counted on MRI; clinical history of ICH at enrollment was assessed by medical records. Samples were genotyped on the Affymetrix Axiom Genome‐Wide LAT1 Human Array. We tested the association of seven common variants (three in EPHB4 and four in RASA1) using multivariable logistic regression for ICH (odds ratio, OR) and multivariable linear regression for total and large lesion counts (proportional increase, PI), adjusting for age, sex, and three principal components. Significance was based on Bonferroni adjustment for multiple comparisons (0.05/7 variants = 0.007). Results: EPHB4 variants were not significantly associated with CCM severity phenotypes. One RASA1 intronic variant (rs72783711 A>C) was significantly associated with ICH (OR = 1.82, 95% CI = 1.21–2.37, p = 0.004) and nominally associated with large lesion count (PI = 1.17, 95% CI = 1.03–1.32, p = 0.02). Conclusion: A common RASA1 variant may be associated with ICH and large lesion count in familial CCM. EPHB4 variants were not associated with any of the three CCM severity phenotypes. [ABSTRACT FROM AUTHOR]

Purpose: Familial cerebral cavernous malformation (CCM) patients present with multiple lesions that can grow both in number and size over time and are reliably detected on susceptibility-weighted imaging (SWI). Manual counting of lesions is arduous and subject to high variability. We aimed to develop an automated algorithm for counting CCM microbleeds (lesions <5 mm in diameter) on SWI images. Methods: Fifty-seven familial CCM type-1 patients were included in this institutional review board-approved study. Baseline SWI ( n = 57) and follow-up SWI ( n = 17) were performed on a 3T Siemens MR scanner with lesions counted manually by the study neuroradiologist. We modified an algorithm for detecting radiation-induced microbleeds on SWI images in brain tumor patients, using a training set of 22 manually delineated CCM microbleeds from two random scans. Manual and automated counts were compared using linear regression with robust standard errors, intra-class correlation (ICC), and paired t tests. A validation analysis comparing the automated counting algorithm and a consensus read from two neuroradiologists was used to calculate sensitivity, the proportion of microbleeds correctly identified by the automated algorithm. Results: Automated and manual microbleed counts were in strong agreement in both baseline (ICC = 0.95, p < 0.001) and longitudinal (ICC = 0.88, p < 0.001) analyses, with no significant difference between average counts (baseline p = 0.11, longitudinal p = 0.29). In the validation analysis, the algorithm correctly identified 662 of 1325 microbleeds (sensitivity=50%), again with strong agreement between approaches (ICC = 0.77, p < 0.001). Conclusion: The automated algorithm is a consistent method for counting microbleeds in familial CCM patients that can facilitate lesion quantification and tracking. [ABSTRACT FROM AUTHOR]

Background Familial Cerebral Cavernous Malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions. CCM lesions manifest across a range of different phenotypes, including wide differences in lesion number, size and susceptibility to intracerebral hemorrhage (ICH). Oxidative stress plays an important role in cerebrovascular disease pathogenesis, raising the possibility that inter-individual variability in genes related to oxidative stress may contribute to the phenotypic differences observed in CCM1 disease. Here, we investigated whether candidate oxidative stress-related cytochrome P450 (CYP) and matrix metalloproteinase (MMP) genetic markers grouped by superfamilies, families or genes, or analyzed individually influence the severity of CCM1 disease. Methods Clinical assessment and cerebral susceptibility-weighted magnetic resonance imaging (SWI) were performed to determine total and large (≥5 mm in diameter) lesion counts as well as ICH in 188 Hispanic CCM1 patients harboring the founder KRIT1/CCM1 ‘common Hispanic mutation’ (CCM1–CHM). Samples were genotyped on the Affymetrix Axiom Genome-Wide LAT1 Human Array. We analyzed 1,122 genetic markers (both single nucleotide polymorphisms (SNPs) and insertion/deletions) grouped by CYP and MMP superfamily, family or gene for association with total or large lesion count and ICH adjusted for age at enrollment and gender. Genetic markers bearing the associations were then analyzed individually. Results The CYP superfamily showed a trend toward association with total lesion count ( P =0.057) and large lesion count ( P =0.088) in contrast to the MMP superfamily. The CYP4 and CYP8 families were associated with either large lesion count or total lesion count ( P =0.014), and two other families (CYP46 and the MMP Stromelysins) were associated with ICH ( P =0.011 and 0.007, respectively). CYP4F12 rs11085971, CYP8A1 rs5628, CYP46A1 rs10151332, and MMP3 rs117153070 single SNPs, mainly bearing the above-mentioned associations, were also individually associated with CCM1 disease severity. Conclusions Overall, our candidate oxidative stress-related genetic markers set approach outlined CYP and MMP families and identified suggestive SNPs that may impact the severity of CCM1 disease, including the development of numerous and large CCM lesions and ICH. These novel genetic risk factors of prognostic value could serve as early objective predictors of disease outcome and might ultimately provide better options for disease prevention and treatment. [ABSTRACT FROM AUTHOR]

Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy for which validated outcome measures are lacking, posing a barrier to clinical trials. Our goal was to identify factors associated with impaired mobility in OPMD in order to guide development of surrogate endpoints in future clinical trials. One hundred forty-four individuals with OPMD were included in this retrospective, single-center study. We made novel use of parametric time-to-event analysis to model age at initial use of assistive device for ambulation. We hypothesized that limb weakness and other markers of disease severity are associated with earlier use of assistive devices. 23.6% of individuals (34/144) progressed to use of assistive devices (mean age 66.0 ± 9.6 y). Earlier age at assistive device was associated with hip flexion Medical Research Council grade ≤3 ( p  <   0.0001), earlier disease onset ( p  <   0.0001), and lack of blepharoptosis surgery ( p  = 0.011). Markers of dysphagia severity were not associated with earlier progression to assistive devices. Our study is the first to show a statistical association between hip flexion weakness and impaired mobility in OPMD, indicating that hip flexion strength could be explored as a surrogate endpoint for use in clinical trials. Since severity of disease features may be discordant within individuals, composite outcome measures are warranted. [ABSTRACT FROM AUTHOR]

Purpose: We documented speech and voice characteristics associated with oculopharyngeal muscular dystrophy (OPMD). Although it is a rare disease, OPMD offers the opportunity to study the impact of myopathic weakness on speech production in the absence of neurologic deficits in a relatively homogeneous group of speakers. Methods: Twelve individuals with OPMD and 12 healthy age-matched controls underwent comprehensive assessment of the speech mechanism including spirometry (respiratory support), nasometry (resonance balance), phonatory measures (pitch, loudness, and quality), articulatory measures (diadochokinetic rates, segment duration measures, spectral moments, and vowel space), tongue-to-palate strength measures during maximal isometric and speechlike tasks, quality-of-life questionnaire, and perceptual speech ratings by listeners. Results: Individuals with OPMD had substantially reduced tongue strength compared to the controls. However, little impact on speech and voice measures or on speech intelligibility was observed except for slower diadochokinetic rates. Conclusions: Despite having less than half the maximal tongue strength of healthy controls, the individuals with OPMD exhibited minimal speech deficits. The threshold of weakness required for noticeable speech impairment may not have been reached by this group of adults with OPMD. [ABSTRACT FROM AUTHOR]

Purpose: We documented speech and voice characteristics associated with oculopharyngeal muscular dystrophy (OPMD). Although it is a rare disease, OPMD offers the opportunity to study the impact of myopathic weakness on speech production in the absence of neurologic deficits in a relatively homogeneous group of speakers. Methods: Twelve individuals with OPMD and 12 healthy age-matched controls underwent comprehensive assessment of the speech mechanism including spirometry (respiratory support), nasometry (resonance balance), phonatory measures (pitch, loudness, and quality), articulatory measures (diadochokinetic rates, segment duration measures, spectral moments, and vowel space), tongue-to-palate strength measures during maximal isometric and speechlike tasks, quality-of-life questionnaire, and perceptual speech ratings by listeners. Results: Individuals with OPMD had substantially reduced tongue strength compared to the controls. However, little impact on speech and voice measures or on speech intelligibility was observed except for slower diadochokinetic rates. Conclusions: Despite having less than half the maximal tongue strength of healthy controls, the individuals with OPMD exhibited minimal speech deficits. The threshold of weakness required for noticeable speech impairment may not have been reached by this group of adults with OPMD. [ABSTRACT FROM AUTHOR]

Background: Familial cerebral cavernous malformation type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and characterized by multiple brain lesions that often result in intracerebral hemorrhage (ICH), seizures, and neurological deficits. Carriers of the same genetic mutation can present with variable symptoms and severity of disease, suggesting the influence of modifier factors. Evidence is emerging that inflammation and immune response play a role in the pathogenesis of CCM. The purpose of this study was to investigate whether common variants in inflammatory and immune response genes influence the severity of familial CCM1 disease, as manifested by ICH and greater brain lesion count. Methods: Hispanic CCM1 patients (n = 188) harboring the founder Q455X ‘common Hispanic mutation' (CHM) in the KRIT1 gene were analyzed at baseline. Participants were enrolled between June 2010 and March 2014 either through the Brain Vascular Malformation Consortium (BVMC) study or through the Angioma Alliance organization. Clinical assessment and cerebral susceptibility-weighted magnetic resonance imaging were performed to determine ICH as well as total and large (≥5 mm in diameter) lesion counts. Samples were genotyped on the Affymetrix Axiom Genome-Wide LAT1 Human Array. We analyzed 830 variants in 56 inflammatory and immune response genes for association with ICH and residuals of log-transformed total or large lesion count adjusted for age at enrollment and gender. Variants were analyzed individually or grouped by sub-pathways or whole pathways. Results: At baseline, 30.3% of CCM1-CHM subjects had ICH, with a mean ± standard deviation (SD) of 60.1 ± 115.0 (range 0-713) for total lesions and 4.9 ± 8.7 (range 0-104) for large lesions. The heritability estimates explained by all autosomal variants were 0.20 (SE = 0.31), 0.81 (SE = 0.17), and 0.48 (SE = 0.19), for ICH, total lesion count, and large lesion count, respectively. TGFBR2 rs9823731 was significantly associated with ICH as well as with the total and large lesion counts (p ≤ 0.017). Further, IL-4 rs9327638, CD14 rs778588, IL-6R rs114660934 and MSR1 rs62489577 were associated with two markers of disease severity. Finally, the whole pathway was associated with total lesion count (p = 0.005) with TLR-4 rs10759930, CD14 rs778588, IL-6R rs114660934 and IGH rs57767447 mainly bearing this association. Eicosanoid signaling, extracellular pattern recognition, and immune response sub-pathways were also associated with the total lesion count. Conclusions: These results suggest that polymorphisms in inflammatory and immune response pathways contribute to variability in CCM1 disease severity and might be used as predictors of disease severity. In particular, TGFBR2 rs9823731 was associated with all three markers of CCM1 disease severity tested, suggesting that TGFBR2 might be a key participant in the mechanism underlying CCM1 disease severity and phenotype variability. However, further longitudinal studies in larger sample sizes are needed to confirm these findings. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objective: This study assessed the convergent validity of the NIHTB-CB in a sample of children and adolescents with CCM-1 and non-affected relatives. Method: Twenty-two participants with CCM-1 and 7 non-affected relatives completed the NIHTB-CB and traditional neuropsychological measures. The following domains were assessed: memory (NIHTB-CB Picture Sequencing Memory and Child and Adolescent Memory Profile- Screening Index), word reading (NIHTB-CB Oral Reading and Wide Range Achievement Test-4th Word Reading [WRAT-4 WR]), processing speed (NIHTB-CB Pattern Comparison and Symbol Digit Modalities Test), and attention/working memory (NIHTB-CB List Sorting and Digit Span). Results: The non-affected group scored higher than the CCM-1 group on WRAT-4 WR (t = 2.68, p =.02) and NIHTB-CB Oral Reading (t = 2.18, p =.05). The groups did not differ on the other measures (p >.05). Pearson's correlations ranged from.45 for memory to.81 for word reading, demonstrating adequate construct validity for memory, processing speed, and attention/ working memory and good to very good for word reading. The NIHTB-CB was more likely to identify participants as impaired for memory (17.2% vs 6.9%) and processing speed (62.1% vs. 3.4%). The traditional attention/working memory measure was more likely to identify participants as impaired (27.6% vs 3.4%). Impairment rates were similar for the word reading measures. Conclusions: Of the domains considered, convergent validity was best established for word reading. Although correlations were adequate, rates of impairment differed for memory, processing speed, and attention/ working memory, suggesting that caution is warranted when comparing the NIHTB-CB to traditional measures in these areas. [ABSTRACT FROM AUTHOR]

Objective: CCM1 is a rare condition that confers risk for negative neurological sequelae, including hemorrhage, seizures, and chronic headache. This study examines cognitive and psychosocial functioning in pediatric patients with CCM1 and describes emerging clinical care guidelines. Method: Twenty-two children and adolescents with CCM-1 and 7 non-affected relatives participated in this cross-sectional pilot study. Cognitive testing and behavior and emotion questionnaires were completed. A subset of participants with CCM1 (n = 11) had repeat brain MRI (average 4.89 years between scans). Results: Patients with CCM1 and their non-affected relatives did not differ on the NIH Toolbox Fluid and Crystallized composites (p > 0.05). Processing speed also did not significantly differ, although both group means were below average normatively (NIH Toolbox Pattern Comparison T-score; CCM1 = 31.50 [12.02], non-affected relatives = 37.57 [14.58]). In the subgroup with repeat imaging, slower processing speed was associated with an increase in large lesions (p = 0.03) and with younger age at CCM1 diagnosis (p = 0.04). Self- and parent-reported internalizing problems and parent-reported externalizing problems did not differ between groups (p > 05). In the CCM1 group, patient-reported disengaged coping was associated with more internalizing problems (p = 0.03). Conclusions: Neuropsychological evaluation is an important component of long-term, multi-disciplinary care for pediatric patients with CCM1, particularly if lesions are progressive. The pilot sample was overall well-adjusted behaviorally and emotionally. The use of disengaged coping strategies was associated with more internalizing symptoms and coping may be a key modifiable risk factor in this population. Psychosocial monitoring may therefore be warranted. [ABSTRACT FROM AUTHOR]

Background: Cerebral cavernous malformations (CCM) are enlarged vascular lesions affecting 0.1-0.5% of the population worldwide and causing hemorrhagic strokes, seizures, and neurological deficits. Familial CCM type 1 (CCM1) is an autosomal dominant disease caused by mutations in the Krev Interaction Trapped 1 (KRIT1/CCM1) gene, and is characterized by multiple brain lesions whose number and size increase with age. The number of lesions varies widely for unknown reasons, even among carriers of similar ages with the same mutation. The purpose of this study was to investigate whether cardiovascular (CV) risk factors influence potential markers of familial CCM1 disease severity, such as lesion count and history of intracerebral hemorrhage. Methods: We analyzed baseline data from 185 Hispanic subjects, enrolled in the Brain Vascular Malformation Consortium study between June 2010 and March 2013. All subjects were carriers of the founder Q455X 'Common Hispanic Mutation' (CHM) in the KRIT1 gene, and had a clinical diagnosis of CCM or had an affected first- or second-degree relative with CCM. We performed a cross-sectional study, collecting detailed clinical information of CCM1-CHM subjects and cerebral susceptibility-weighted magnetic resonance imaging to assess lesion count. Linear or logistic regression analysis of log-lesion count or history of intracerebral hemorrhage and CV risk factors (age, gender, obesity, diabetes, hypertension, hyperlipidemia and smoking status) and related quantitative traits (body mass index, glycosylated hemoglobin levels, blood pressure, lipids levels and pack-years of cigarette smoking) was performed accommodating familial clustering. Results: CCM1-CHM subjects were mainly female (63.8%) and symptomatic at presentation (63.2%). Lesion count was highly variable (mean ± SD: 57.7 ± 110.6; range: 0-713); 90% of CCM1-CHM subjects had multiple lesions at enrollment. Age (p < 0.001) was positively correlated with lesion count and male gender (p = 0.035) was associated with a greater number of lesions. Obesity (p = 0.001) and higher body mass index (p = 0.002) were associated with fewer lesions. No association with hypertension was detected, however, systolic blood pressure (p = 0.002) was associated with fewer lesions. No significant association with lesion count was observed for diabetes, hyperlipidemia, smoking status or for related quantitative traits. History of intracerebral hemorrhage was not significantly associated with any CV risk factors, however, we found borderline associations of hemorrhage with obesity (p = 0.062), systolic blood pressure (p = 0.083) and pack-years of cigarette smoking (p = 0.055). After correction for multiple testing, age and obesity remained significantly associated with lesion count in CCM1-CHM subjects. Conclusions: These results suggest that several CV risk factors explain some of the variability in lesion count in Hispanic CCM1-CHM subjects. Although age, gender, obesity, body mass index and systolic blood pressure may influence familial CCM1 disease severity, further longitudinal studies in larger sample sizes are essential to confirm these findings. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Purpose: This prospective investigation evaluates oral weakness and its impact on swallow function, weight, and quality of life in patients with oculopharyngeal muscular dystrophy (OPMD). Method: Intraoral pressure, swallow pressure, and endurance were measured using an Iowa Oral Performance Instrument in participants with OPMD and matched controls. Timed water swallow, weight, and quality of life were also assessed. Results: Participants with OPMD were weaker than controls. Oral weakness impacted strength, swallow pressure, swallow capacity, swallow volume, swallow time, and quality of life. Tongue endurance was not affected by oral weakness. Conclusion: This investigation provides further insight into the swallow function of patients with myopathic disease. Muscle fiber loss leads to weakness, which results in reductions in swallow function and quality of life. Weight and endurance are not greatly altered. [ABSTRACT FROM AUTHOR]

Spinal muscular atrophy is a neurodegenerative disease that requires multidisciplinary medical care. Recent progress in the understanding of molecular pathogenesis of spinal muscular atrophy and advances in medical technology have not been matched by similar developments in the care for spinal muscular atrophy patients. Variations in medical practice coupled with differences in family resources and values have resulted in variable clinical outcomes that are likely to compromise valid measure of treatment effects during clinical trials. The International Standard of Care Committee for Spinal Muscular Atrophy was formed in 2005, with a goal o establishing practice guidelines for clinical care of these patients. The 12 core committee members worked with more than 60 spinal muscular atrophy experts in the field through conference calls, e-mail communications, a Delphi survey, and 2 in-person meetings to achieve consensus on 5 care areas: dliagnostic/new interventions, pulmonary, gastrointestinal/nutrition, orthopedics/rehabilitation, and palliative care. Consensus was achieved on several topics related to common medical problems in spinal muscular atrophy diagnostic strategies, recommendations for assessment and monitoring, and therapeutic interventions in each care area. A consensus statement was drafted to address the 5 care areas according to 3 functional levels of the patients: nonsitter, sitter, and walker. The committee also identified several medical practices lacking consensus and warranting further investigation. It is the authors' intention that this document be used as a guideline, not as a practice standard for their care. A practice standard for spinal muscular atrophy is urgently needed to help with the multidisciplinary care of these patients. [ABSTRACT FROM AUTHOR]

Examines the effectiveness of peer-mediated interventions on facilitating social interaction for elementary students with autism. Characteristics of peer mediation program; Strategies used in peer training; Occurrence of reciprocal interaction in autistic students.

Familial cerebral cavernous malformations are autosomal dominant conditions that can result in significant morbidity. A two-hit mechanism is accepted as likely responsible for formation of these malformations. We present two patients with this disease who received therapeutic radiation and developed very high numbers of malformations within the radiation ports, supporting radiation as an accelerator of lesion formation and suggesting implications for risks of radiation in this disease. [ABSTRACT FROM AUTHOR]

The article offers information on Egernia striolata is a species endemic to eastern and central Queensland, most of New South Wales except the coastal regions and the upper parts of the Great Dividing Range in Victoria, and the eastern parts of South Australia. Topics include the purpose of this note is to add to the endoparasite list for E. striolata, and the Animal House at the Bedford Park campus of the College of Science and Engineering of Flinders University in South Australia until 2018.

We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the ATP1A3 gene. In adults, mutations in ATP1A3 cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and samples were collected for mutation analysis. Case 1 presented with fluctuating spells of hypotonia, dysphagia, mutism, dystonia, and ataxia at 9 months. After three episodes of hypotonia, she developed ataxia, inability to speak or swallow, and eventual seizures. Case 2 presented with hypotonia at 14 months and pre-existing motor delay. At age 4 years, he had episodic slurred speech, followed by ataxia, drooling, and dysarthria. He remains mute. Both children had ATP1A3 gene mutations. To our knowledge, these are the earliest presentations of RDP, both with fluctuating features. Both children were initially misdiagnosed. RDP should be considered in children with discoordinated gait, and speech and swallowing difficulties. [ABSTRACT FROM AUTHOR]

Background: Cerebral cavernous malformation is a vascular disease of the brain causing headaches, seizures, and cerebral hemorrhage. Familial and sporadic cases are recognized, and a gene causing familial disease has been mapped to chromosome 7. Hispanic Americans have a higher prevalence of cavernous malformation than do other ethnic groups, raising the possibility that affected persons in this population have inherited the same mutation from a common ancestor. Methods: We compared the segregation of genetic markers and clinical cases of cavernous malformation in Hispanic-American kindreds with familial disease; we also compared the alleles for markers linked to cavernous malformation in patients with familial and sporadic cases. Results: All kindreds with familial disease showed linkage of cavernous malformation to a short segment of chromosome 7 (odds supporting linkage, 4×1010:1). Forty-seven affected members of 14 kindreds shared identical alleles for up to 15 markers linked to the cavernous-malformation gene, demonstrating that they had inherited the same mutation from a common ancestor. Ten patients with sporadic cases also shared these same alleles, indicating that they too had inherited the same mutation. Thirty-three asymptomatic carriers of the disease gene were identified, demonstrating the variability and age dependence of the development of symptoms and explaining the appearance of apparently sporadic cases. Conclusions: Virtually all cases of familial and sporadic cavernous malformation among Hispanic Americans of Mexican descent are due to the inheritance of the same mutation from a common ancestor. (N Engl J Med 1996;334:946-51.) [ABSTRACT FROM AUTHOR]