bluuebunny/crossref_metadata_2025_split huggingface dataset:
Foot drop splints improve proximal as well as distal leg control during gait in Charcot‐Marie‐Tooth Disease
Authors: Ramdharry Gita M. , Day Brian L. , Reilly Mary M. , Marsden Jonathan F. 
Published: February 2012

AbstractIntroduction: During walking, people with Charcot‐Marie‐Tooth (CMT) disease may compensate for distal weakness by using proximal muscles. We investigated the effect of different AFOs on distal leg control and proximal compensatory actions. Methods: Fourteen people with CMT were tested while wearing 3 types of ankle‐foot orthosis (AFO) bilaterally compared with shoes alone. Walking was assessed using three‐dimensional gait analysis. Stiffness of the splints was measured by applying controlled 5‐degree ankle stretches using a motor. Results: The results showed that each AFO significantly stiffened the ankle and increased ankle dorsiflexion at foot clearance compared with shoes alone. At push off, peak ankle power generation was reduced, but only with 1 type of AFO. A significant decrease in hip flexion amplitude during the swing phase was observed with all 3 AFOs. Conclusions: These results indicate that AFOs reduce foot drop and remove the need for some proximal compensatory action. Muscle Nerve 46: 512–519, 2012
Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia
Authors: Tasca Giorgio , Odgerel Zagaa , Monforte Mauro , Aurino Stefania , Clarke Nigel F. , Waddell Leigh B. , Udd Bjarne , Ricci Enzo , Goldfarb Lev G. 
Published: February 2012

AbstractIntroduction: Mutations in the gene that encodes filamin C, FLNC, represent a rare cause of a distinctive type of myofibrillar myopathy (MFM). Methods: We investigated an Italian patient by means of muscle biopsy, muscle and brain imaging and molecular analysis of MFM genes. Results: The patient harbored a novel 7256C>T, p.Thr2419Met mutation in exon 44 of FLNC. Clinical, pathological and muscle MRI findings were similar to the previously described filaminopathy cases. This patient had, in addition, cerebellar ataxia with atrophy of cerebellum and vermis evident on brain MRI scan. Extensive screening failed to establish a cause of cerebellar atrophy. Conclusions: We report an Italian filaminopathy patient, with a novel mutation in a highly conserved region. This case raises the possibility that the disease spectrum caused by FLNC may include cerebellar dysfunction. Muscle Nerve 275–282, 2012
Quadriceps and ankle dorsiflexor strength in chronic obstructive pulmonary disease
Authors: Seymour John M. , Ward Katie , Raffique Abrar , Steier Joerg S. , Sidhu Paul S. , Polkey Michael I. , Moxham John , Rafferty Gerrard F. 
Published: February 2012

AbstractIntroduction: Quadriceps strength and size are commonly reduced in chronic obstructive pulmonary disease (COPD). We wished to assess volitional and nonvolitional ankle dorsiflexor strength in COPD. Methods: Quadriceps and ankle dorsiflexor strength were measured by maximum voluntary contraction (MVC) and by twitch responses to supramaximal femoral and fibular nerve stimulation. Cross‐sectional areas of the tibialis anterior (TACSA) and rectus femoris muscles (RFCSA) were measured by ultrasound. Results: Eighteen elderly subjects and 20 COPD patients [mean(SD) %predictedFEV1 50(20)%] participated. No significant difference in fat‐free mass index, ankle dorsiflexor strength, or TACSA were observed in the presence of reduced quadriceps strength and size in COPD [mean MVC difference: −10.9 kg (95% confidence interval {CI}: −17.1 kg to −4.8 kg, P < 0.01; mean RFCSA difference −119 mm2, 95% CI: −180 mm2 to −58 mm2, P < 0.01)]. Conclusions: Ankle dorsiflexor strength is less attenuated than quadriceps strength in COPD patients with moderate airflow obstruction. Direct quadriceps assessment may be more relevant than measurement of lower limb fat‐free mass. Muscle Nerve 46: 548–554, 2012
Focal and other unusual presentations of facioscapulohumeral muscular dystrophy
Authors: Hassan Anhar , Jones Lyell K , Milone Margherita , Kumar Neeraj 
Published: February 2012

AbstractIntroduction:Facioscapulohumeral dystrophy (FSHD) presents classically with facial and shoulder‐girdle weakness. We report focal atypical presentations of FSHD. Our aim was to identify focal/unusual phenotypes in genetically confirmed FSHD cases.Methods:We undertook a retrospective review of an academic center database of the period from 1996 to 2011. Of 139 FSHD cases, 7 had atypical genetically confirmed disease. Clinical data were abstracted.Results:Seven cases (4 men) had a mean age of 37 years at onset (range 18–63 years) and mean 43 years at diagnosis (range 20–74 years). Presenting symptoms were monomelic lower limb (n = 3) or upper limb (n = 2) atrophy, or axial weakness (n = 2). Five patients had focal weakness on examination. CK was normal to borderline high. Two patients had a relative with FSHD. Coexistent unusual features included dyspnea (n = 1), S1 radicular pain with calf atrophy (n = 2), and peripheral neuropathy (n = 1). Almost all patients had myopathic EMG changes. DNA analysis showed a D4Z4 EcoRI fragment size ranging from 20 to 37 kilobases.Conclusions:FSHD may present with focal weakness, dyspnea and myopathic EMG changes. These findings should raise the possibility of FSHD. Muscle Nerve 46: 421–425, 2012
The electrodiagnostic sensitivity of proximal lower extremity muscles in the diagnosis of L5 radiculopathy
Authors: Burakgazi Ahmet Z. , Kelly John J. , Richardson Perry 
Published: February 2012

AbstractThe aim of this study was to assess the electrodiagnostic (EDx) sensitivity of proximal lower extremity muscles, including tensor fascia lata (TFL) and gluteus medius (GMED), in the diagnosis of L5 radiculopathy.Eleven EDx recordings with L5 radiculopathy were collected. The motor unit action potentials were assessed for morphology, stability, and firing characteristics. A descriptive analysis was performed. In proximal L5‐supplied muscles, 4 of 11 recordings were abnormal in TFL only, with normal GMED; 4 of 11 recordings had similar findings in both muscles; 2 of 11 had abnormal findings in both muscles, but TFL had more noticeable findings; and 1 had abnormal findings in both muscles, but GMED findings were more noticeable. No patient had abnormalities limited to GMED. TFL was more sensitive than GMED in detecting L5 radiculopathy. Knowing which muscles are more likely to show abnormalities can improve the efficiency of EMG and reduce patient discomfort. Muscle Nerve 45: 891–893, 2012
Did giant mitochondria delay muscle maturation? An uncommon congenital myopathy
Authors: Fidziańska Anna , Glinka Zofia 
Published: February 2012

AbstractIntroduction: Mitochondria are semi‐autonomous organelles that are able to change their shape, size, location, and number inside the living cell. Mitochondrial division is an extremely important process, because cell survival depends on there being an adequate number of mitochondria in each cell. The dynamics of these organelles are particularly important for normal embryonic cell development. We studied morphological and ultrastructural features of muscle‐cell immaturity, with the appearance of abnormal giant mitochondria, in a child with an unusual congenital myopathy. Methods: The biceps brachii and quadriceps femoris muscles were analyzed at the light and electron microscopy levels. Results: Ultrastructural features of muscle‐cell immaturity were manifested in the presence of primary and mature myotubes coexisting with abnormal giant mitochondria. Conclusions: Failure of mitochondrial fusion/fission machinery at an early stage of development may lead to delayed muscle‐cell maturation. Muscle Nerve 46: 125–129, 2012
Neuromuscular function after muscle fatigue in Charcot–Marie–Tooth type 1A patients
Authors: Menotti Federica , Bazzucchi Ilenia , Felici Francesco , Damiani Antonello , Gori Maria Cristina , Macaluso Andrea 
Published: February 2012

AbstractIntroduction:The effect of recovery time on neuromuscular function after a fatiguing task was compared in both the upper and lower limbs between patients with Charcot–Marie–Tooth type 1A (CMT1A) and healthy individuals.Methods:Torque of elbow flexors and knee extensors and surface electromyography (sEMG) data of biceps brachii and vastus lateralis were recorded from 8 CMT1A patients and 8 matched, healthy individuals during maximal voluntary contraction (MVC) before (pre‐fatigue MVC), 10 s after (10‐s post‐fatigue MVC), and 10 min after (10‐min post‐fatigue MVC) a fatiguing task at 80% MVC until exhaustion.Results:Only in the lower limb, torque and root mean square of sEMG (RMS) during pre‐fatigue MVC were lower (P < 0.05) in patients (91.93 ± 45.95 Nm, 0.11 ± 0.07 mV) than in controls (161.06 ± 75.5 Nm, 0.24 ± 0.16 mV). In the 10‐min post‐fatigue MVC, muscle‐fiber conduction velocity (MFCV) and RMS, expressed as a percentage of pre‐fatigue MVC, were lower (P < 0.05) in patients (MFCV 90.3 ± 6.91%, RMS 84.50 ± 9.89%) than in controls (MFCV 100.87 ± 5.1%, RMS 92.71 ± 11.84%).Conclusions:CMT1A patients are not only weaker than healthy individuals in the knee extensors, but they also have impaired neuromuscular recovery after fatigue. Muscle Nerve 46: 434–439, 2012
Torsional wave propagation in non‐homogeneous layer between non‐homogeneous half‐spaces
Authors: Chattopadhyay A. , Gupta S. , Kumari Pato , Sharma V. K. 
Published: February 2012

SUMMARYThe study of surface wave in a layered medium has their possible application in geophysical prospecting. In the present work, dispersion equation for torsional wave in an inhomogeneous isotropic layer between inhomogeneous isotropic half‐spaces has been derived. Two cases are discussed separately for torsional wave propagation in inhomogeneous layer between homogeneous and non‐homogeneous half‐spaces, respectively. Further, two possible modes for torsional wave propagation are obtained in case of inhomogeneous layer sandwiched between non‐homogeneous half‐spaces. Closed form solutions for displacement in the layer and half‐spaces are obtained in each case. The study reveals that the layer width, layer inhomogeneity, frequency of inhomogeneity, as well as inhomogeneity in the half‐space has significant effect on the propagation of torsional surface waves. Displacement and implicit dispersion equation for torsional wave velocities are expressed in terms of Heun functions and their derivatives. Effects of inhomogeneity on torsional wave velocity are also discussed graphically by plotting the dimensionless phase velocity against dimensionless and scaled wave number for different values of inhomogeneity parameter. Copyright © 2012 John Wiley & Sons, Ltd.
Energy‐optimal trajectory planning for the Pendubot and the Acrobot
Authors: Gregory John , Olivares Alberto , Staffetti Ernesto 
Published: February 2012

SUMMARYIn this paper, we study the trajectory‐planning problem for planar underactuated robot manipulators with two revolute joints in the presence of gravity. This problem is studied as an optimal control problem. We consider both possible models of planar underactuated robot manipulators, namely with the elbow joint not actuated, called Pendubot, and with the shoulder joint not actuated, called Acrobot. Our method consists of a numerical resolution of a reformulation of the optimal control problem, as an unconstrained calculus of variations problem, in which the dynamic equations of the mechanical system are regarded as constraints and treated by means of special derivative multipliers. We solve the resulting calculus of variations problem by using a numerical approach based on the Euler–Lagrange necessary condition in integral form. In which, time is discretized, and admissible variations for each variable are approximated using a linear combination of the piecewise continuous basis functions of time. In this way, a general method for the solution of optimal control problems with constraints is obtained, which, in particular, can deal with nonintegrable differential constraints arising from the dynamic models of underactuated planar robot manipulators with two revolute joints in the presence of gravity. Copyright © 2012 John Wiley & Sons, Ltd.
A whole‐genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor‐negative and ‐positive breast cancers
Authors: Natrajan Rachael , Mackay Alan , Lambros Maryou B , Weigelt Britta , Wilkerson Paul M , Manie Elodie , Grigoriadis Anita , A'Hern Roger , van der Groep Petra , Kozarewa Iwanka , Popova Tatiana , Mariani Odette , Turajlic Samra , Furney Simon J , Marais Richard , Rodruigues Daniel‐Nava , Flora Adriana C , Wai Patty , Pawar Vidya , McDade Simon , Carroll Jason , Stoppa‐Lyonnet Dominique , Green Andrew R , Ellis Ian O , Swanton Charles , van Diest Paul , Delattre Olivier , Lord Christopher J , Foulkes William D , Vincent‐Salomon Anne , Ashworth Alan , Stern Marc Henri , Reis‐Filho Jorge S 
Published: February 2012

AbstractBRCA1 encodes a tumour suppressor protein that plays pivotal roles in homologous recombination (HR) DNA repair, cell‐cycle checkpoints, and transcriptional regulation. BRCA1 germline mutations confer a high risk of early‐onset breast and ovarian cancer. In more than 80% of cases, tumours arising in BRCA1 germline mutation carriers are oestrogen receptor (ER)‐negative; however, up to 15% are ER‐positive. It has been suggested that BRCA1 ER‐positive breast cancers constitute sporadic cancers arising in the context of a BRCA1 germline mutation rather than being causally related to BRCA1 loss‐of‐function. Whole‐genome massively parallel sequencing of ER‐positive and ER‐negative BRCA1 breast cancers, and their respective germline DNAs, was used to characterize the genetic landscape of BRCA1 cancers at base‐pair resolution. Only BRCA1 germline mutations, somatic loss of the wild‐type allele, and TP53 somatic mutations were recurrently found in the index cases. BRCA1 breast cancers displayed a mutational signature consistent with that caused by lack of HR DNA repair in both ER‐positive and ER‐negative cases. Sequencing analysis of independent cohorts of hereditary BRCA1 and sporadic non‐BRCA1 breast cancers for the presence of recurrent pathogenic mutations and/or homozygous deletions found in the index cases revealed that DAPK3, TMEM135, KIAA1797, PDE4D, and GATA4 are potential additional drivers of breast cancers. This study demonstrates that BRCA1 pathogenic germline mutations coupled with somatic loss of the wild‐type allele are not sufficient for hereditary breast cancers to display an ER‐negative phenotype, and has led to the identification of three potential novel breast cancer genes (ie DAPK3, TMEM135, and GATA4). Copyright © 2012 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
A qualitative investigation of the decision‐making process of couples considering prenatal screening for Down syndrome
Authors: Carroll Fran E. , Owen‐Smith Amanda , Shaw Alison , Montgomery Alan A. 
Published: February 2012

ABSTRACTObjectiveThe aim of this study was to investigate how couples regard screening information and how they make subsequent decisions about undergoing prenatal screening for Down syndrome.MethodsTwenty semi‐structured interviews were conducted to explore aspects of the decision‐making process. Interviews were digitally recorded and transcribed verbatim, and data were analysed using the framework approach.ResultsCouples reported a strong desire for a joint but ultimately private decision‐making process and saw the main role of their midwife as an information provider. Considerable confusion existed over which screening tests were available via the National Health Service and which were offered privately. Provision of experiential information regarding both subsequent diagnostic tests and the experience of living with Down syndrome would have been beneficial.ConclusionThis study shows that couples would benefit from receiving experiential information when they are deciding about Down syndrome screening. Future research should be conducted to establish what form such information should take, the most helpful means to provide such information, and whether such information would also be useful in other contexts where people need to make decisions whether to undergo screening. © 2012 John Wiley & Sons, Ltd.
Early first‐trimester free‐β‐hCG and PAPP‐A serum distributions in monochorionic and dichorionic twins
Authors: Prats Pilar , Rodríguez Ignacio , Nicolau Joan , Comas Carmina 
Published: February 2012

ABSTRACTObjectiveTo examine the distribution of first‐trimester biochemical markers of aneuploidy in twins according to chorionicity.MethodsMaternal serum free‐β‐human chorionic gonadotropin (hCG) and pregnancy‐associated plasma protein A (PAPP‐A) were measured between 8–13 + 6 weeks as a part of a routine first‐trimester screening program in conjunction with fetal nuchal translucency measured at 11 to 13 + 6 weeks’ gestation. Data from 279 twin pregnancies were extracted from our fetal databases. Down syndrome cases were excluded. Individual marker concentrations were expressed as weight, ethnicity, smoking and maternal diabetes corrected. To compare the distributions of the biochemical parameters, a generalized additive model was used adjusted to a smoothing regression model with the values transformed with base 10'' logarithm using R software (generalized additive model‐smoothing spline regression).ResultsFree‐β‐hCG and PAPP‐A distributions, analyzed with a generalized additive model adjusted to a smoothing regression model, were significantly different depending on the chorionicity. We graphically displayed the relationship between the predicted concentration of the free‐β‐hCG and PAPP‐A and the gestational age in days for monochorionic and dichorionic twins adjusted by weight.ConclusionPregnancy‐associated plasma protein A and free‐β‐hCG values are gestational age specific. It is necessary to make a distinction between monochorionic and dichorionic twins because biochemical markers are lower in monochorionic than in dichorionic twins. © 2012 John Wiley & Sons, Ltd.
Acetaminophen overdose in the Military Health System
Authors: Taylor Lockwood G. , Xie Suji , Meyer Tamra E. , Coster Trinka S. 
Published: February 2012

ABSTRACTPurposeWe report the annual trend, distribution, and determinants of acetaminophen overdose using data from the Military Health System. We also assess the proportion of individuals with an acetaminophen overdose who received a prescription for any acetaminophen‐containing medication prior to their event.MethodsDiagnostic International Classification of Diseases, 9th revision (ICD‐9) codes from inpatient medical encounters were used to identify patients with acetaminophen overdose. We used Poisson regression to estimate adjusted prevalence ratios (aPRs) for associations between selected socio‐demographic characteristics and acetaminophen overdose. Pharmacy records for individuals with an acetaminophen overdose were obtained to evaluate the proportion who received a prescription for any acetaminophen‐containing medication prior to their overdose.ResultsAnnual age‐adjusted and sex‐adjusted prevalence of acetaminophen overdose increased by 38.5% from 2004 to 2008. Acetaminophen overdose was significantly more common in female subjects than in male subjects (aPR = 3.24, 95%CI = 2.97–3.55). Individuals aged 15–17 and 18–24 also were significantly more likely to have an overdose compared with those aged 45–64 (aPR = 6.06, 95%CI = 5.25–7.00 and aPR = 4.58, 95%CI = 4.01–5.23, respectively). Among active duty service members, acetaminophen overdose was six times more common in junior enlisted service members than in officers (aPR = 6.06, 95%CI = 3.90–9.40). The proportion of individuals with an inpatient overdose who had any prescription for an acetaminophen‐containing medication in the 365, 30, and 7 days before the overdose was 53.3%, 23.7%, and 16.3%, respectively.ConclusionsIdentification of at‐risk populations will aid the military in ongoing efforts to decrease medication misuse. Findings suggest a potential need for improved labeling of over‐the‐counter medications and medication safety education efforts for unintentional acetaminophen overdose and continued efforts to identify individuals at risk for intentional overdose. Published 2012. This article is a US Government work and is in the public domain in the USA.
High‐efficiency CIGS submodules
Authors: Komaki Hironori , Furue Shigenori , Yamada Akimasa , Ishizuka Shogo , Shibata Hajime , Matsubara Koji , Niki Shigeru 
Published: February 2012

ABSTRACTThe approaches and achievements in the development of high‐efficiency CuInGaSe2 (CIGS) monolithically integrated submodules will be reported. Two types of techniques, the conventional (batch‐process) and the in‐line three‐stage evaporation techniques, have been employed to deposit high‐quality CIGS absorbers on 10 × 10‐cm Mo/soda lime glass substrates. CIGS films deposited by both the conventional and the in‐line evaporation techniques showed an in‐depth compositional grading of In and Ga (referred as the double graded bandgap) which is a fingerprint of the three‐stage evaporation process. The optimization of the integration processes such as mechanical scribing, as well as the improvement in electrical and optical properties of ZnO window layers, made possible the demonstration of high‐efficency CIGS submodules with efficiencies as high as η = 16.6% (aperture area: 67.2 cm2) and η = 15.8% (aperture area: 76.5 cm2) for the conventional and the in‐line evaporation process, respectively. Copyright © 2012 John Wiley & Sons, Ltd.
Relationship between pre‐intervention data and post‐intervention reading fluency and growth: A meta‐analysis of assessment data for individual students
Authors: Scholin Sarah E. , Burns Matthew K. 
Published: February 2012

AbstractCurriculum‐based measurement is commonly used within a response‐to‐intervention framework to assess the effectiveness of intervention and to triage students into intervention tiers (e.g., the lowest 10% receive a Tier 3 intervention, and those in the 11th to 25th percentiles receive a Tier 2 intervention). We conducted a meta‐analysis of 18 studies to examine the relationship between pre‐intervention assessments and post‐intervention level and growth in reading fluency. The results indicated that several pre‐intervention measures were moderately related to post‐intervention fluency, but only a percentage of comprehension questions answered during baseline assessments, reading fluency age or grade‐based standard scores (SS), and word attack SS resulted in even a small to moderate relationship with reading growth. Moreover, there was no significant difference between the correlation of any two pre‐intervention measures with reading growth, which suggested that all of the measures were equally poorly related to reading growth. Implications for research and practice are discussed. © 2012 Wiley Periodicals, Inc.
Fidelity of implementation framework: A critical need for response to intervention models
Authors: Keller‐Margulis Milena A. 
Published: February 2012

AbstractResponse to Intervention (RtI) has gained increased attention with the reauthorization of the Individuals with Disabilities Education Improvement Act. Since RtI was introduced at the policy level as a mechanism for use in the learning disability identification process, much of the implementation work has focused on this application. School‐based implementation of RtI has occurred quickly in response to federal legislation, with little focus on fidelity. Regular and consistent monitoring of implementation fidelity can provide the data required to improve implementation and student performance. This discussion will include a brief review of the literature regarding implementation fidelity and then provide a framework for designing a fidelity system for RtI models. Further systematic research in this area is needed to support the RtI implementation that is currently under way in schools across the country. © 2012 Wiley Periodicals, Inc.