bluuebunny/crossref_metadata_2025_split huggingface dataset:
Horizontal head titubation in infants with Joubert syndrome: a new finding
Authors: Poretti Andrea , Christen Hans‐Jürgen , Elton Lindsay E , Baumgartner Manuela , Korenke Georg Christoph , Sukhudyan Biayna , Hethey Sven , Cross Elizabeth , Steinlin Maja , Boltshauser Eugen 
Published: May 2014

AimHead thrusts are well documented in Joubert syndrome and ocular motor apraxia. We provide a detailed clinical characterization of head titubation in 13 young children with Joubert syndrome.MethodDetailed characterization of head titubation was assessed by targeted clinical evaluation and/or analysis of videos.ResultsIn 12 of 13 children (eight males, five females; median age 6y, range 2mo–15y) head titubation was first recognized in the first 2 months of age and decreased in severity until spontaneous resolution. In all children, the head titubation was horizontal, high frequency (~3Hz), had small amplitude (5–10°), was never present during sleep, and did not interfere with the neurodevelopment during infancy. In the majority of children, emotion, anxiety, and tiredness were worsening factors for head titubation.InterpretationHead titubation is a benign, early presentation of Joubert syndrome. Head titubation in hypotonic infants should prompt a careful search for Joubert syndrome. Awareness of its occurrence in Joubert syndrome may avoid unnecessary investigations.
Extensive motor axonal misrouting after conservative treatment of obstetric brachial plexus lesions
Authors: Anguelova Galia V , Malessy Martijn J A , van Zwet Erik W , van Dijk J Gert 
Published: May 2014

AimThe aim of this cross‐sectional study was to assess systematically motor function and motor misrouting in adults with conservatively treated obstetric brachial plexus lesion (OBPL).MethodSeventeen adults with OBPL (median age 38y; five males, 12 females) and 16 comparison participants (median age 26y; eight males, eight females) were investigated. Motor function in the group with OBPL was assessed through passive and active motion, muscle strength of the deltoid, biceps, and triceps muscles, and Mallet aggregate score and five subscores. Motor misrouting was quantified by electrically stimulating each of 10 arm muscles and recording activity from the other nine in response to this. Motor function and motor misrouting were statistically analysed using the Mann–Whitney U test and Spearman's correlation coefficient.ResultsMotor function testing showed excellent strength but poor functional Mallet scores. Participants with OBPL had significantly more motor misrouting than comparison participants (Mann–Whitney U=31.5 [df=28], p<0.001, median difference=−4.00, 95% confidence interval [CI]=−7.00 to −1.00). Most misrouting was observed when stimulating the biceps (Mann–Whitney U=38.5 [df=31], p<0.001, median difference=−3.00, 95% CI −3.00 to −1.00), deltoid (Mann–Whitney U=68.5 [df=31], p=0.003, median difference=−1.0, 95% CI=−4.00 to 0.00 <0.001) and brachioradialis muscles (Mann–Whitney U=72.0 [df=31], p=0.002, median difference <0.001, 95% CI=−3.00 to 0.00 <0.001). There were no significant correlations between the presence of motor misrouting and impairment of motor function.InterpretationThere is extensive motor misrouting in conservatively treated OBPL. The presence of this, in addition to motor functional impairment, suggests that motor misrouting should be further studied in OBPL.
Speckle Strain Echocardiography Predicts Outcome in Patients with Heart Failure with both Depressed and Preserved Left Ventricular Ejection Fraction
Authors: Stampehl Mark R. , Mann Douglas L. , Nguyen John S. , Cota Francisco , Colmenares Cristina , Dokainish Hisham 
Published: May 2014

BackgroundWhile speckle imaging has been shown to predict outcome in patients with heart failure (HF), it remains unclear whether speckle strain predicts outcome in patients with HF with preserved ejection fraction (HFPEF).MethodsFour hundred twenty patients with HF by Framingham criteria and either: left ventricular (LV) EF <50%, or elevated LV filling pressure by comprehensive echo Doppler study in the setting of left ventricular ejection fraction (LVEF) ≥50%, were enrolled. Speckle tracking was used to measure strain and strain rate in multiple vectors. The primary endpoint was HF hospitalization or cardiovascular death.ResultsFollow‐up was completed in 380/420 patients (90%). The mean age was 55.7 ± 0.8 years, 191/380 (50%) were male, 319/380 (84%) were hypertensive, 183/380 (48%) were diabetic, and 152/380 (40%) had known coronary artery disease. At a mean follow‐up of 369 ± 30 days, 107/380 patients (28%) reached the primary endpoint: 97 HF rehospitalizations and 10 cardiac deaths. The best univariate predictors of outcome were global longitudinal peak strain (GLPS) (χ2 = 25.6, P < 0.001), mitral DT (χ2 = 16.8, P < 0.001), LVEF (χ2 = 16.7, P < 0.0001), longitudinal early diastolic strain (χ2 = 8.7, P = 0.003), and circumferential peak strain (χ2 = 7.9, P = 0.005). On multivariate analysis, GLPS (P < 0.0001), LVEF (P = 0.0002), and mitral DT (P = 0.005) were independent predictors of outcome. In the 100 HF patients with preserved LVEF, there were 17 events. Patients with GPLS ≤−15 had significantly better event‐free survival than patients with GPLS >−15 (χ2 = 4.1, P = 0.04), whereas LVEF did not predict event‐free survival.ConclusionSpeckle strain echocardiography is an important predictor of outcome in HF patients with both depressed and preserved LVEF.
Prognostic Implications of Tissue Doppler Imaging–Derived E/Ea Ratio in Acute Heart Failure Patients
Authors: Santas Enrique , García‐Blas Sergio , Miñana Gema , Sanchis Juan , Bodí Vicent , Escribano David , Muñoz Jaime , Chorro Francisco J , Núñez Julio 
Published: May 2014

BackgroundTissue Doppler–derived transmitral to mitral annular early diastolic velocity ratio (E/Ea), as a noninvasive estimation of left ventricular (LV) filling pressures, is a strong prognosticator in various cardiac scenarios including chronic heart failure; nevertheless, its utility for risk stratification in the whole spectrum of acute heart failure (AHF) patients remains elusive. Thus, the aim of this study was to determine the association between E/Ea ratio and 1‐year mortality in nonselected patients with AHF.MethodsThe study included 417 consecutive patients admitted for AHF. Twenty‐two patients were excluded due to nonaccurate Ea measurements, leaving the final sample to be 395 patients. E‐wave, septal, and lateral Ea velocities were measured following initial stabilization and according to current recommendations. The association of mean E/Ea ratio with all‐cause mortality was assessed using Cox regression analysis.ResultsAt a median follow‐up of 306 days (interquartile range, 118–564), 89 deaths (22.5%) were registered. Mean age and E/Ea ratio were 72 ± 11.5 and 20 ± 3. Proportion of LV ejection fraction ≥50% was 47%. In multivariate analysis, after adjusting for well‐known prognostic factors, including natriuretic peptides, E/Ea ratio was linearly associated with an increase risk of all‐cause mortality (HR 1.04, 95% CI 1.03–1.05; P < 0.001, per increase in one unit of E/Ea). The threshold of risk was identified above 20. No significant interactions among the most important subgroups were found.ConclusionIn AHF patients, tissue Doppler imaging derived E/Ea ratio is independently associated with an increased risk of all‐cause mortality.
Impact of Asymptomatic Acute Cellular Rejection on Left Ventricle Myocardial Function Evaluated by Means of Two‐Dimensional Speckle Tracking Echocardiography in Heart Transplant Recipients
Authors: Ruiz Ortiz Martín , Peña María Luisa , Mesa Dolores , Delgado Mónica , Romo Elías , Santisteban Marta , Puentes Miguel , López Granados Amador , Castillo Juan Carlos , Arizón José María , de Lezo José Suárez 
Published: May 2014

BackgroundOur objective was to evaluate the impact of asymptomatic acute cellular rejection (ACR) in left ventricular myocardial strain in heart transplant (HT) recipients by means of two‐dimensional speckle tracking echocardiography (2DSTE).MethodsFrom September 1, 2009 to December 15, 2010 a conventional echocardiography and 2DSTE exam was performed on all consecutive HT recipients in their first year posttransplantation within 3 hours of the surveillance endomyocardial biopsies, as well as on 14 healthy controls. The association of strain echocardiographic variables with different grades of ACR was investigated.ResultsOf the 78 studies performed 4 ± 3 months after HT in 20 patients, 32 studies were coincident with grade 0R rejection, 41 with grade 1R, and 5 with grade 2R. Significantly lower values of average radial strain were found with higher grades of ACR (29.1 ± 7.7%, 23.2 ± 8.5%, and 14.3 ± 8.8% for grades 0R, 1R, and 2R of ACR, P = 0.001). Average deformation was similar for controls versus transplanted patients, in the absence of acute rejection: radial 29.1 ± 10.0% versus 29.1 ± 7.7%, P = 0.98; circumferential −19.3 ± 3.2% versus −20.2 ± 5.9%, P = 0.62; and longitudinal −20.7 ± 4.1% versus −18.5 ± 5.4%, P = 0.19. An average radial strain <25% presented 100% sensitivity, 48% specificity, 6% positive predictive value, and 100% negative predictive value for the presence of 2R rejection (area under the curve 0.80, IC 95% 0.60–0.99, P = 0.048).ConclusionIn this study, HT recipients showed significantly lower values of average radial left ventricle strain, evaluated by means of 2DSTE, with the presence of ACR.
An Unusual Appearance of Fibrin Sheaths after Implantable Cardioverter‐Defibrillator Removal Because of Infective Endocarditis
Authors: Lacalzada Juan , García‐González Martín J. , de la Rosa Alejandro , González Esther , Díaz Francisco J. , Laynez Ignacio 
Published: May 2014

Mini‐AbstractThe radiological detection of “fibrin sheaths” after removing central catheters is a well‐known delayed complication. “Fibrin sheaths” after implantable cardioverter‐defibrillator (ICD) removal because of infective endocarditis is unusual. We report the case of a 26‐year‐old woman with an ICD who developed infective endocarditis. A transesophageal echocardiography showed an image of “fibrin sleeve” on the superior vena cava (SVC). The patient had no history of SVC central catheter placement. The coexistence of vegetation and “fibrin sheaths” at different moments, as in our case, requires an awareness of this situation for differential diagnosis and treatment.
The Association between Aortic Distensibility and Coronary Flow Reserve in Newly Diagnosed Diabetic Patients
Authors: Yuksel Kalkan Gulhan , Gur Mustafa , Eksi Haydardedeoğlu Filiz , Kırım Sinan , Baykan Ahmet Oytun , Kuloğlu Osman , Uçar Hakan , Sahin Durmuş Yildiray , Elbasan Zafer , Seker Taner , Turkoğlu Caner , Yildirim Arafat , Cayli Murat 
Published: May 2014

IntroductionAortic distensibility (AD) is an important parameter affecting coronary hemodynamics. Coronary flow velocity reserve (CFVR) is a reliable marker of coronary endothelial function in diabetic patients. The aim of this study was to investigate the association between AD and CFVR in newly diagnosed diabetic patients.MethodWe studied 77 patients with newly diagnosed diabetes mellitus (DM) and 30 age‐ and sex‐matched healthy control subjects. CFVR was calculated as the hyperemic to resting coronary diastolic velocities ratio by using transthoracic echocardiography. Pulse pressure (PP) and AD were calculated.ResultsFasting blood glucose, HbA1c and PP were significantly higher in patients with diabetes (P < 0.001, P < 0.001 and P = 0.009, respectively). Other clinical and demographical characteristics, laboratory findings and echocardiographic findings were similar in both groups (P > 0.05, for all). The measurement of CFVR and AD in patients with diabetes were significantly lower compared with the controls (P < 0.001 and P = 0.001, respectively). CFVR was significantly negatively correlated with age, body mass index, HbA1c, systolic blood pressure, and PP, while significantly positively correlated with AD (P < 0.05, for all). Multivariate regression analysis showed that only AD (β = 0.485, P < 0.0001) and HbA1c (β = −0.362, P < 0.0001) were independently associated with CFVR. The cutoff value of AD obtained by the receiver operator characteristic (ROC) curve analysis was 2.44 for the prediction of impaired CFVR.ConclusionAortic distensibility and HbA1c were independently associated with CFVR. The decrease in AD may be used as a marker of impaired coronary microcirculation in asymptomatic diabetic patients.
Fine‐tuning of defences and counter‐defences in a specialised plant–herbivore system
Authors: RASMANN SERGIO 
Published: May 2014

1. The plant–herbivore arms race has been postulated to be a major driver for generating biological and biochemical diversity on Earth. Herbivore feeding is reduced by the production of chemical and physical barriers, but increases plant resistance against subsequent attack. Accordingly, specialisation is predicted to be an outcome of herbivores being able to circumvent plant‐induced defences.2. Using a specialised plant–herbivore system, in which adult chrysomelid beetles (Chrysochus auratus) feed on leaves and larvae feed on roots of dogbane (Apocynum spp.), this study investigated whether root latex and cardenolides are effective against the soil‐dwelling larvae, and whether such defences could be circumvented by the herbivore.3. Across two Apocynum species, C. auratus larvae were not affected by latex production or cardenolide amounts and diversity. By contrast, cardenolide apolarity was detrimental to larval growth. Yet larval feeding decreased average root cardenolide apolarity in A. cannabinum and larvae performed better on those plants. Finally, above‐ground induction rendered the plants more toxic by increasing root cardenolide apolarity and maintaining it, even during subsequent larval herbivory.4. Therefore, the intimate relationship and interaction between Chrysochus and Apocynum are maintained by a delicate balance of herbivore manipulation and plant chemical induction.
Can conservation‐oriented, captive breeding limit behavioural and growth divergence between offspring of wild and captive origin Atlantic salmon (Salmo salar)?
Authors: Wilke Nathan F. , O'Reilly Patrick T. , MacDonald Danielle , Fleming Ian A. 
Published: May 2014

AbstractCaptive rearing is being used increasingly to maintain demographics and genetic diversity of threatened fish populations and species, but its effectiveness can be hindered by domestication, that is, inadvertent selection for performance in captivity at the cost of that in the wild. Some captive rearing programmes have begun to take steps to limit such domestication, but the results are ambiguous, as the degree of generational exposure to captivity is often difficult to control. Using an endangered population of Atlantic salmon (Salmo salar) currently undergoing conservation‐oriented captive rearing, we tested for domestication effects on dominance (dyadic trials) and growth (seminatural stream channels with differing densities and group proportions) of juvenile offspring of wild and captive origin parents. Pedigree data afforded the ability to compare these effects among three specific study groups: wild, single‐generation captives and two to three generation captives. Our results indicate that, despite conservation breeding practices, a divergence in growth can occur in as little as one generation without divergence in dominance behaviour. Further, evidence suggests that trait divergence did not increase with generations in captivity. Given the experimental design, results and supporting literature, we conclude that this contemporary divergence is likely genetic and driven by a combination of factors, including variation in selective histories influencing behaviour.
Effect of therapeutic plasma exchange on plasma levels of oxidative biomarkers in a patient with thrombotic thrombocytopenic purpura
Authors: Gangemi Sebastiano , Allegra Alessandro , Sciarrone Paolo , Russo Sabina , Cristani Mariateresa , Gerace Demetrio , Saitta Salvatore , Alonci Andrea , Musolino Caterina 
Published: May 2014

AbstractBackgroundThe role of oxidative stress in the initiation and progression of endothelial damage in thrombotic thrombocytopenic purpura (TTP) syndrome has been the subject of much speculation in the recent past.ObjectivesThe aim of this study was to measure the concentration of plasma advanced oxidation protein products (AOPPs), advanced glycation end products (AGEs), and carbonyl groups (CG) as markers of oxidative stress in plasma of a patient with TTP during the course of the disease until recovery and to evaluate the effect of plasmapheresis (PE) on these biomarkers.Materials and methodsThe study consisted of plasma analysis of the patient, and 23 healthy subjects served as controls. In the patient with TTP, AOPP, AGE, and CG analysis was performed before and after each PE at the days +1 (Tα), +2, +4, +6, +10, +9, and +17 after the last plasmapheresis (Tω).ResultsPlasma concentrations of AOPPs were increased in the acute phase of TTP, and at Tα, the patient had AOPPs levels higher than 99°‰ of controls. AOPPs decreased in the recovery phase, and at Tω, their values were between 84° and 85°‰ of controls. No significant difference was found in AOPP levels before and after each PE. No significant differences for AGEs or CG concentrations were found at Tα with respect to the control group, while only a trend was observed for reduction of plasma AGEs after each plasmapheresis.ConclusionOur data seem to confirm the hypothesis that oxidative stress is a critical component of the pathogenesis of TTP.
Genomic analysis of clonal eosinophils by CGH arrays reveals new genetic regions involved in chronic eosinophilia
Authors: Arefi Maryam , Robledo Cristina , Peñarrubia María J. , de Coca Alfonso García , Cordero Miguel , Hernández‐Rivas Jesús M. , García Juan Luis 
Published: May 2014

AbstractTo assess the presence of genetic imbalances in patients with myeloproliferative neoplasms (MPNs), 38 patients with chronic eosinophilia were studied by array comparative genomic hybridization (aCGH): seven had chronic myelogenous leukaemia (CML), BCR‐ABL1 positive, nine patients had myeloproliferative neoplasia Ph− (MPN‐Ph−), three had a myeloid neoplasm associated with a PDGFRA rearrangement, and the remaining two cases were Lymphoproliferative T neoplasms associated with eosinophilia. In addition, 17 patients had a secondary eosinophilia and were used as controls. Eosinophilic enrichment was carried out in all cases. Genomic imbalances were found in 76% of all MPN patients. Losses on 20q were the most frequent genetic abnormality in MPNs (32%), affected the three types of MPN studied. This study also found losses at 11q13.3 in 26% of patients with MPN‐Ph− and in 19p13.11 in two of the three patients with an MPN associated with a PDGFRA rearrangement. In addition, 29% of patients with CML had losses on 8q24. In summary, aCGH revealed clonality in eosinophils in most MPNs, suggesting that it could be a useful technique for defining clonality in these diseases. The presence of genetic losses in new regions could provide new insights into the knowledge of these MPN associated with eosinophilia.
Outcomes in RBC transfusion‐dependent patients with Low‐/Intermediate‐1‐risk myelodysplastic syndromes with isolated deletion 5q treated with lenalidomide: a subset analysis from the MDS‐004 study
Authors: Giagounidis Aristoteles , Mufti Ghulam J. , Mittelman Moshe , Sanz Guillermo , Platzbecker Uwe , Muus Petra , Selleslag Dominik , Beyne‐Rauzy Odile , te Boekhorst Peter , del Cañizo Consuelo , Guerci‐Bresler Agnès , Nilsson Lars , Lübbert Michael , Quesnel Bruno , Ganser Arnold , Bowen David , Schlegelberger Brigitte , Göhring Gudrun , Fu Tommy , Benettaib Bouchra , Hellström‐Lindberg Eva , Fenaux Pierre 
Published: May 2014

AbstractObjectiveA subset analysis of the randomised, phase 3, MDS‐004 study to evaluate outcomes in patients with International Prognostic Scoring System (IPSS)‐defined Low‐/Intermediate (Int)‐1‐risk myelodysplastic syndromes (MDS) with isolated del(5q).MethodsPatients received lenalidomide 10 mg/d (days 1–21; n = 47) or 5 mg/d (days 1–28; n = 43) on 28‐d cycles or placebo (n = 45). From the placebo and lenalidomide 5 mg groups, 84% and 58% of patients, respectively, crossed over to lenalidomide 5 or 10 mg at 16 wk, respectively.ResultsRates of red blood cell‐transfusion independence (RBC‐TI) ≥182 d were higher in the lenalidomide 10 mg (57.4%; P < 0.0001) and 5 mg (37.2%; P = 0.0001) groups vs. placebo (2.2%). Cytogenetic response rates (major + minor responses) were 56.8% (P < 0.0001), 23.1% (P = 0.0299) and 0%, respectively. Two‐year cumulative risk of acute myeloid leukaemia progression was 12.6%, 17.4% and 16.7% in the lenalidomide 10 mg, 5 mg, and placebo groups, respectively. In a 6‐month landmark analysis, overall survival was longer in lenalidomide‐treated patients with RBC‐TI ≥182 d vs. non‐responders (P = 0.0072). The most common grade 3–4 adverse event was myelosuppression.ConclusionsThese data support the clinical benefits and acceptable safety profile of lenalidomide in transfusion‐dependent patients with IPSS‐defined Low‐/Int‐1‐risk MDS with isolated del(5q).
Target hematologic values in the management of essential thrombocythemia and polycythemia vera
Authors: Hernández‐Boluda Juan Carlos , Gómez Montse 
Published: May 2014

AbstractTreatment of essential thrombocythemia (ET) and polycythemia vera (PV) is aimed at preventing vascular complications, which are the main cause of morbidity and mortality in these diseases. Over the years, clinical trials have demonstrated that the incidence of thrombosis and bleeding can be reduced by controlling the blood cell counts, but the target hematological levels have varied across the studies. In this article, we review the evidence supporting the use of predefined target hematologic values for the management of ET and PV in routine clinical practice. At present, the recommended target hematocrit in PV is below 45%, regardless of the patients' risk profile. Concerning platelet counts, no direct correlation has been demonstrated with thrombotic risk in either ET or PV. Thus, although cytoreductive treatment reduces the rate of vascular complications in high‐risk patients, no particular threshold of the platelet counts has been shown to be more protective against thrombosis. Extreme thrombocytosis is a risk factor for bleeding, particularly when aspirin or anagrelide are given. Leukocytosis at baseline or during follow‐up appears to be a risk factor for thrombosis, mostly in high‐risk patients. However, the clinical benefit of strictly controlling this parameter is not yet established. Finally, standardized definitions of response to cytoreductive treatment in ET and PV have recently been published. Nevertheless, they have been produced to compare the efficacy of new therapies in clinical trials, whereas its relevance in clinical practice has been questioned in retrospective studies showing that such response definitions do not correlate with the patients' clinical outcome.