bluuebunny/crossref_metadata_2025_split huggingface dataset:
Focal cortical dysplasia: A genotype–phenotype analysis of polymorphisms and mutations in the TSC genes
Authors: Gumbinger Christoph , Rohsbach Constantin B. , Schulze‐Bonhage Andreas , Korinthenberg Rudolf , Zentner Josef , Häffner Monika , Fauser Susanne 
Published: January 2009

SummaryPurpose:  Focal cortical dysplasia (FCD) is a common cause of pharmacoresistant human epilepsy. FCD has frequently been discussed as a “forme fruste” of tuberous sclerosis complex (TSC) because of the radiologic and histologic resemblance of dysplastic areas to tubers in TSC. Mutations or a germ‐line predisposition in terms of increased polymorphisms in the TSC genes have been presumed to influence the pathogenesis of FCD. A detailed genotype–phenotype analysis of these patients has not been performed so far.Methods:  In this study, 33 patients with FCD (among them 23 with FCD type 2 and 4 patients with multifocal FCD) were investigated (1) clinically as to dermatologic manifestations, retinal hamartoma, cardial rhabdomyoma, and renal angiomyolipoma, and (2) genetically by considering lesional brain tissue and blood using single strand conformation polymorphism (SSCP) electrophoresis and sequencing of the TSC1 and TSC2 genes.Results:  In the clinical examinations, no subtle features of TSC could be detected in this large group of patients with FCD, pointing to the fact that this is a different patient group without clinical overlap. Several sequence alterations were found in the TSC1 and TSC2 genes in both lesional brain tissue and blood of FCD patients, however, in similar frequencies to that of the normal population. Moreover, most of these sequence alterations were silent.Discussion:  This study shows that FCD—even multifocal FCD—is not caused by mutations in the TSC genes and seems not to be promoted by polymorphisms in the TSC genes. Therefore, FCD cannot be regarded as a “forme fruste” of TSC.
Palilalia, echolalia, and echopraxia–palipraxia as ictal manifestations in a patient with left frontal lobe epilepsy
Authors: Cho Yang‐Je , Han Sang‐Don , Song Sook Keun , Lee Byung In , Heo Kyoung 
Published: January 2009

SummaryPalilalia is a relatively rare pathologic speech behavior and has been reported in various neurologic and psychiatric disorders. We encountered a case of palilalia, echolalia, and echopraxia–palipraxia as ictal phenomena of left frontal lobe epilepsy. A 55‐year‐old, right‐handed man was admitted because of frequent episodes of rapid reiteration of syllables. Video‐electroencephalography monitoring revealed stereotypical episodes of palilalia accompanied by rhythmic head nodding and right‐arm posturing with ictal discharges over the left frontocentral area. He also displayed echolalia or echopraxia–palipraxia, partially responding to an examiner’s stimulus. Magnetic resonance imaging revealed encephalomalacia on the left superior frontal gyrus and ictal single photon emission computed tomography showed hyperperfusion just above the lesion, corresponding to the left supplementary motor area (SMA), and subcortical nuclei. This result suggests that the neuroanatomic substrate involved in the generation of these behaviors as ictal phenomena might exist in the SMA of the left frontal lobe.
Sleep‐related hypermotor seizures in aspartylglucosaminuria: A case report
Authors: Ambrosetto Giovanni , Santucci Margherita 
Published: January 2009

SummaryFrom the age of 24 years a young man with a definitive diagnosis of aspartylglucosaminuria (AGU) presented short‐lasting sleep‐related paroxysmal events characterized by sudden awakening with a frightened look, hyperventilation, and complex bilateral motor activity. Nocturnal video‐polysomnography recorded several events consistent with a diagnosis of hypermotor epileptic seizures. This pattern of sleep‐related epileptic seizures has been reported in rare familial cases, more often in cryptogenic and symptomatic patients in the spectrum of nocturnal frontal lobe epilepsy. Epilepsy and sleep‐related nonepileptic problems are common in patients with AGU, but no case of hyperkinetic nocturnal frontal lobe seizures has been reported to date. Differential diagnosis of abnormal paroxysmal motor events in sleep is frequently a challenge for the clinician: Video‐polysomnographic recordings might serve to identify the possible epileptic origin of some of the excessive motor activities during sleep referred in patients with AGU.
Epilepsy surgery in the first 3 years of life: A Canadian survey
Authors: Steinbok Paul , Gan Peter Y.C. , Connolly Mary B. , Carmant Lionel , Barry Sinclair D. , Rutka James , Griebel Robert , Aronyk Keith , Hader Walter , Ventureyra Enrique , Atkinson Jeffrey 
Published: January 2009

SummaryObjective:  To determine the clinical characteristics, surgical challenges, and outcome in children younger than 3 years of age undergoing epilepsy surgery in Canada.Methods:  Retrospective data on patients younger than age 3 years who underwent epilepsy surgery at multiple centers across Canada from January 1987 to September 2005 were collected and analyzed.Results:  There were 116 patients from eight centers. Seizure onset was in the first year of life in 82%, and mean age at first surgery was 15.8 months (1–35 months). Second surgeries were done in 27 patients, and a third surgery in 6. Etiologies were malformations of cortical development (57), tumor (22), Sturge‐Weber syndrome (19), infarct (8), and other (10). Surgeries comprised 40 hemispheric operations, 33 cortical resections, 35 lesionectomies, 7 temporal lobectomies, and one callosotomy. There was one surgical mortality. The most common surgical complications (151 operations in 116 patients) were infection (17) and aseptic meningitis in 13. Of 107 patients with seizure outcome assessed more than one year postoperatively, 72 (67.3%) were seizure free (Engel I), 15(14%) had >90% improvement (Engel II), 12 had >50% improvement (Engel III), and 8 did not benefit from surgery (Engel IV). Development improved in 55.3% after surgery.Conclusion:  Epilepsy surgery in children younger than 3 years of age is relatively safe and is effective in controlling seizures. Very young age is not a contraindication to surgery in children with refractory epilepsy, and early surgery may impact development positively.
The spectrum of benign myoclonus of early infancy: Clinical and neurophysiologic features in 102 patients
Authors: Caraballo Roberto H. , Capovilla Giuseppe , Vigevano Federico , Beccaria Francesca , Specchio Nicola , Fejerman Natalio 
Published: January 2009

SummaryPurpose: To redefine benign myoclonus of early infancy (BMEI) through analysis of clinical and neurophysiologic features in 102 patients with the aim to widen the spectrum of the syndrome, including a number of different clinical expressions of transient nonepileptic paroxysmal movements occurring in normal infants.Methods: We recruited patients from one center in Argentina and two in Italy, including infants with normal neurologic and psychomotor development presenting with brief paroxysmal abnormal movements. Children with motor phenomena occurring only during sleep were excluded. Patients with abnormal interictal or ictal electroencephalography (EEG) findings were also excluded. The follow‐up ranged from 2–40 years.Results: One hundred and two infants (60 male) met the inclusion criteria. Age at onset ranged from 1–12 months, with a median age of 6.2 months. The following nonepileptic paroxysmal motor phenomena were recognized: (1) myoclonus, (2) spasms and brief tonic contractions, (3) shuddering, (4) atonia or negative myoclonus, (5) more than one type of motor phenomenon. In the majority of cases the episodes occurred only while awake and repeated several times a day. In 45 (44.1%) of the 102 cases contractions appeared in clusters.Conclusions: Based on the analysis of clinical and EMG features in this large series of infants, we postulate that the spectrum of the syndrome is wider than initially suspected, and that the different transient motor manifestations and their correlation with different EMG patterns will allow recognition of this definitely benign condition comprising a variety of episodic motor phenomena in normal babies.
Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: A critical review and the UCLA experience
Authors: Lerner Jason T. , Salamon Noriko , Hauptman Jason S. , Velasco Tonicarlo R. , Hemb Marta , Wu Joyce Y. , Sankar Raman , Donald Shields W. , Engel Jr Jerome , Fried Itzhak , Cepeda Carlos , Andre Veronique M. , Levine Michael S. , Miyata Hajime , Yong William H. , Vinters Harry V. , Mathern Gary W. 
Published: January 2009

SummaryRecent findings on the clinical, electroencephalography (EEG), neuroimaging, and surgical outcomes are reviewed comparing patients with Palmini type I (mild) and type II (severe) cortical dysplasia. Resources include peer‐reviewed studies on surgically treated patients and a subanalysis of the 2004 International League Against Epilepsy (ILAE) Survey of Pediatric Epilepsy Surgery. These sources were supplemented with data from University of California, Los Angeles (UCLA). Cortical dysplasia is the most frequent histopathologic substrate in children, and the second most common etiology in adult epilepsy surgery patients. Cortical dysplasia patients present with seizures at an earlier age than other surgically treated etiologies, and 33–50% have nonlocalized scalp EEG and normal magnetic resonance imaging (MRI) scans. 2‐(18F)Fluoro‐2‐deoxy‐D‐glucose positron emission tomography (FDG‐PET) is positive in 75–90% of cases. After complete resection, 80% of patients are seizure free compared with 20% with incomplete resections. Compared with type I, patients with type II cortical dysplasia present at younger ages, have higher seizure frequencies, and are extratemporal. Type I dysplasia is found more often in adult patients in the temporal lobe and is often MRI negative. These findings identify characteristics of patients with mild and severe cortical dysplasia that define surgically treated epilepsy syndromes. The authors discuss future challenges to identifying and treating medically refractory epilepsy patients with cortical dysplasia.
Altered Impulse Control in Alcohol Dependence: Neural Measures of Stop Signal Performance
Authors: Li Chiang‐shan Ray , Luo Xi , Yan Peisi , Bergquist Keri , Sinha Rajita 
Published: January 2009

Background:  Altered impulse control has been implicated in the shaping of habitual alcohol use and eventual alcohol dependence. We sought to identify the neural correlates of altered impulse control in 24 abstinent patients with alcohol dependence (PAD), as compared to 24 demographics matched healthy control subjects (HC). In particular, we examined the processes of risk taking and cognitive control as the neural endophenotypes of alcohol dependence.Methods:  To this end, functional magnetic resonance imaging (fMRI) was conducted during a stop signal task (SST), in which a procedure was used to elicit errors in the participants. The paradigm allowed trial‐by‐trial evaluation of response inhibition, error processing, and post‐error behavioral adjustment. Furthermore, by imposing on the subjects to be both fast and accurate, the SST also introduced a distinct element of risk, which participants may or may not avert during the task. Brain imaging data were analyzed with Statistical Parametric Mapping in covariance analyses accounting for group disparity in general performance.Results:  The results showed that, compared to HC, PAD demonstrated longer go trial reaction time (RT) and higher stop success rate (SS%). HC and PAD were indistinguishable in stop signal reaction time (SSRT) and post‐error slowing (PES). In a covariance analysis accounting for go trial RT and SS%, HC showed greater activity in the left dorsolateral prefrontal cortex than PAD, when subjects with short and long SSRT were contrasted. By comparing PAD and HC directly during stop errors (SE), as contrasted with SS, we observed greater activity in PAD in bilateral visual and frontal cortices. Compared to HC, PAD showed less activation of the right dorsolateral prefrontal cortex during PES, an index of post‐error behavioral adjustment. Furthermore, PAD who showed higher alcohol urge at the time of the fMRI were particularly impaired in dorsolateral prefrontal activation, as compared to those with lower alcohol urge. Finally, compared to HC subjects, PAD showed less activity in cortical and subcortical structures including putamen, insula, and amygdala during risk‐taking decisions in the SST.Conclusion:  These preliminary results provided evidence for altered neural processing during impulse control in PAD. These findings may provide a useful neural signature in the evaluation of treatment outcomes and development of novel pharmacotherapy for alcohol dependence.
Healthcare Costs Associated with Depression in Medically Ill Fee‐for‐Service Medicare Participants
Authors: Unützer Jürgen , Schoenbaum Michael , Katon Wayne J. , Fan Ming‐Yu , Pincus Harold A. , Hogan Diane , Taylor Jennifer 
Published: January 2009

OBJECTIVES: To examine the association between depression and healthcare costs in medically ill fee‐for‐service (FFS) Medicare recipients.STUDY DESIGN: Observational analysis of Medicare claims data.SETTING: Medicare Health Support (MHS) program at Green Ribbon Health.PARTICIPANTS: Fourteen thousand nine hundred two participants with diabetes mellitus, congestive heart failure (CHF), or both.MEASUREMENTS: This study examined participant data for a 12‐month period before MHS enrollment (collected between November 2004 and August 2006). Twelve‐month healthcare costs (based on Medicare claims) in 2,108 participants with International Classification of Diseases, Ninth Revision, claims diagnoses of depression, 1,081 participants with possible depression (positive depression screen on the two‐item Patient Health Questionnaire or self reported antidepressant use), and 11,713 participants without depression were compared. Gamma regression models were used to adjust for demographic and clinical differences and nonnormal distribution of cost data.RESULTS: Participants with depression had significantly higher total healthcare costs than those without ($20,046 vs $11,956; P<.01). Higher costs were observed in participants with depression in every cost category except specialty mental health care, which accounted for less than 1% of total healthcare costs. Participants with depression had higher costs in each quartile of increasing medical severity (measured using the Charlson Comorbidity Index). These differences remained statistically significant after adjusting for demographic and other clinical differences.CONCLUSION: Depression is associated with significantly higher healthcare costs in FFS Medicare recipients with diabetes mellitus and CHF. Only a small proportion of the increased costs are spent on mental health specialty care.
Activity of clotting factors in fresh‐frozen plasma during storage at 4°C over 6 days
Authors: Von Heymann Christian , Keller Mareike Kristina , Spies Claudia , Schuster Michael , Meinck Kristian , Sander Michael , Wernecke Klaus‐Dieter , Kiesewetter Holger , Pruss Axel 
Published: January 2009

BACKGROUND: Fresh‐frozen plasma (FFP) requires thawing, which delays availability. We investigated clotting factor activity and bacterial contamination of FFP when stored at 4°C ± 2°C for 6 days.STUDY DESIGN AND METHODS: Plasma of 20 healthy plasma donors was sampled, frozen, and analyzed at baseline and repeatedly over a period of 6 days after thawing. The activity of fibrinogen, Factor (F)II, FV, FVII, FVIII, F IX, FX, XI, FXII, FXIII, antithrombin III (ATIII), von Willebrand factor antigen (VWF‐Ag), protein C (PC), and free protein S (FPS) were determined and analyzed over time.RESULTS: Immediately after thawing there was a significant decrease of fibrinogen (−9%), FII (−7%), FV (−14%), FVII (−12%), FX (−11%), FXIII (−20%), PC (−7%), and ATIII (−4%), whereas FVIII (+8%), F IX (+1%), FXI (+11%), FXII (−1%), FPS (−1%), and VWF‐Ag (−6%) remained stable without significant change. Over 6 days after thawing fibrinogen, ATIII (+2%) and VWF‐Ag (+2%) remained stable whereas FXII (+2%), FXIII (+6%), and PC (+3%) changed significantly over time and increased at the end. FII (−8%), FV (−16%), FVII (−31%), FVIII (−47%), F IX (−12%), FX (−10%), FXI (−25%), and FPS (±0%) changed also significantly over time and decreased at the end. All clotting factors and inhibitors remained within the reference range requested by quality assurance regulations. No FFP bag showed bacterial contamination.CONCLUSION: This provides evidence for maintaining quality of thawed FFP and may improve rapid availability in emergency situations and reduce cost for health care givers.
P‐selectin mRNA is maintained in platelet concentrates stored at 4°C
Authors: Stiegler Gabriele , Fischer Gottfried , Ramanathan Gajalakshmi , Bencur Peter , Weigel Günter , Mannhalter Christine 
Published: January 2009

BACKGROUND: Platelets (PLTs) contain mRNA and synthesize proteins in response to activation. Most guidelines for PLT concentrates (PCs) recommend ambient temperature for storage but the impact of the storage temperature on PLT mRNA content has not yet been investigated.STUDY DESIGN AND METHODS: Ten leukoreduced apheresis PCs were split and stored at 22 and 4°C. P‐selectin mRNA, its expression on PLTs, and its soluble form were quantified. In parallel, cellular (cell count, mean PLT volume), metabolic (pH, pO2, pCO2, HCO3, glucose), and functional markers (swirling, hypotonic shock response, aggregation to collagen) were analyzed. Rotation thrombelastography was used to monitor the hemostatic potential of PLTs. All measurements were performed on Days 1 and 5 of storage.RESULTS: After 5 days of storage at 4°C, only 31 ± 27 percent of P‐selectin mRNA and 29 ± 41 percent of glyceraldehyde‐3‐phosphate dehydrogenase mRNA were lost, while minute amounts of the mRNAs were detectable at 22°C. In PCs stored at 4°C the percentage of P‐selectin–positive PLTs was significantly higher when compared to PCs stored at 22°C. Soluble P‐selectin concentrations did not significantly differ between both storage temperatures. Thrombelastography revealed significantly shorter reaction times in PLTs kept at 4°C.CONCLUSION: Our data indicate that storage at 4°C is accompanied by maintained mRNA levels. PLTs with intact mRNA levels and short reaction times in thrombelastography might be functionally superior to PLTs that are devoid of mRNA and show less augmented P‐selectin surface expression. In therapeutic applications, that is, if PLTs are transfused to control acute bleeding, PLTs kept at 4°C may be advantageous.
Assessment of safety in neonates for transfusion of platelets and plasma prepared with amotosalen photochemical pathogen inactivation treatment by a 1‐month intravenous toxicity study in neonatal rats
Authors: Ciaravino Vic , Hanover Jessica , Lin Lily , Sullivan Theresa , Corash Laurence 
Published: January 2009

BACKGROUND: It is estimated that approximately 300,000 neonates undergo transfusions annually. The neonatal immune system is immature, making such patients more susceptible to the effects associated with transfusion‐transmitted bacteria, viruses, protozoa, and white blood cells (WBCs). The INTERCEPT Blood System is a photochemical process (PCT) utilizing amotosalen and long‐wavelength ultraviolet to inactivate pathogens and WBCs in both platelet (PLT) and plasma components for transfusion. A series of clinical studies has shown PCT PLTs and PCT plasma to be safe and effective for transfusion in adults and pediatric patients. Because clinical studies in neonates are technically difficult and ethically challenging, preclinical toxicologic studies were conducted in neonatal rats to evaluate the safety of PCT blood components for neonates.STUDY DESIGN AND METHODS: This study examined daily intravenous administration to neonatal rats of amotosalen in 35 percent:65 percent plasma:InterSol from 1 µg per kg per day (representing 1‐unit transfusion) to 457 µg per kg per day (representing multiple transfusions) from Postnatal Day 4 (PND4) to PND31. Rats were observed for viability, clinical signs, and body weights until PND31 and then subjected to pathology evaluation. Hematology, clinical chemistry, and urinalysis data were also collected on PND31. Toxicokinetic parameters were evaluated on PND4 and PND31.RESULTS: There were no amotosalen‐related effects on clinical signs, body weight, hematology, clinical chemistry, urinalysis, gross pathology, or histopathology, despite the exposure of neonatal rats to amotosalen concentrations as high as approximately 48 times the standard exposure in adult patients.CONCLUSION: This study demonstrates the safety of PCT for transfusion in neonatal rats and augments data from other studies and clinical use supporting the use of PCT in neonatal patients.
High‐resolution HLA matching in double‐umbilical‐cord‐blood reduced‐intensity transplantation in adults
Authors: Delaney Meghan , Cutler Corey S. , Haspel Richard L. , Yeap Beow Y. , McAfee Steven L. , Dey Bimalangshu R. , Attar Eyal , Kao Grace , Alyea Edwin P. , Koreth John , Ho Vincent T. , Saidman Susan , Liney Deborah , Sese Doreen , Soiffer Robert J. , Spitzer Thomas R. , Antin Joseph H. , Ballen Karen K. 
Published: January 2009

BACKGROUND: Double‐cord‐blood transplantation (DCBT) offers an option for patients receiving reduced‐intensity transplants. These unique transplants have two donors, both of whom are usually HLA mismatched at one to two loci.STUDY DESIGN AND METHODS: Fifty‐three patients were recipients of a reduced‐intensity DCBT. Cords were at least 4/6 allele‐level HLA‐A, ‐B, and ‐DR match with the patient and each other with a minimum combined cell dose of more than 3.7 × 107 total nucleated cells per kg. Twenty‐one patients received cyclosporine/mycophenolate mofetil and 32 patients received sirolimus/tacrolimus (SIR/TAC) for graft‐versus‐host disease prophylaxis. The effect of allele level HLA typing on clinical endpoints of overall survival (OS), disease‐free survival (DFS), engraftment, and acute graft‐versus‐host disease (aGVHD) were assessed.RESULTS: Neutrophil (p = 0.001) engraftment and platelet engraftment (p = 0.027) were significantly faster in patients who have closer Class I (HLA‐A, ‐B, ‐C) matching. Neutrophil engraftment was faster in patients who had closer HLA‐B matching to their combined cords (p = 0.007). There was a low incidence of aGVHD overall, especially in the SIR/TAC group. Class I HLA matching had no effect on aGVHD. HLA‐DR and ‐DQ had no effect on engraftment or aGVHD.CONCLUSION: Class I allele matching, and HLA‐B matching specifically, were associated with faster neutrophil engraftment. High‐resolution HLA matching did not affect OS or DFS.
Myocardial interstitial Cajal‐like cells (ICLC) in caveolin‐1 KO mice
Authors: Gherghiceanu M. , Hinescu M. E. , Popescu L. M. 
Published: January 2009

AbstractWe compared, by transmission electron microscopy (TEM), the ultrastructure of interstitial Cajal‐like cells (ICLC) in normal mammalian myocardium versus caveolin‐1 null mice. TEM showed that myocardial ICLCs of caveolin‐1‐deficient mice retain their main ultrastructural characteristics, for example, location among cardiomyocytes, close vicinity to nerves and/or blood capillaries, specialized cell‐to‐cell junctions, presence of 2–3 typical processes, which are very long (several tens of micrometres), but are very thin (0.1–0.2 μm) and moniliform. However, the most striking modification of myocardial ICLC in caveolin‐1 KO mice was the absence of caveolae. Beyond this main observation, three other findings could be reported: (1) the absence of caveolae in capillary endothelium, (2) persistence of (some) caveolae at the level of cardiomyocte sarcolemma or vascular smooth muscle cell sarcolemma and (3) (un)expected ultrastructural modifications such as increased thickness of capillary basement membrane and increased autophagy of several cardiomyocytes.