bluuebunny/crossref_metadata_2025_split huggingface dataset:
Epilepsy control following intracranial monitoring without resection in young children
Authors: Roth Jonathan , Olasunkanmi Adeolu , Ma Tracy S. , Carlson Chad , Devinsky Orrin , Harter David H. , Weiner Howard L. 
Published: January 2012

SummaryPurpose: Intracranial monitoring (IM) is a key diagnostic procedure for select patients with treatment‐resistant epilepsy (TRE). Seizure focus resection may improve seizure control in both lesional and nonlesional TRE. IM itself is not considered to have therapeutic potential. We describe a cohort of patients with improved seizure control following IM without resective surgery.Methods: Over 12.5 years, 161 children underwent 496 surgeries including intracranial monitoring. We retrospectively reviewed the patients’ charts, operative reports, and radiologic scans, under an institutional review board–approved protocol.Key Findings: Seventeen patients underwent only IM, without additional resective surgery, and seven had a dramatic improvement in their epilepsy; six of the seven patients are seizure‐free (Engel class I), and one rarely has seizures (Engel class II). All seven patients had frequent seizures that led to IM: either daily (five patients) or 1–2 per week (two patients). The mean age (± standard deviation, SD) at seizure onset was 1.6 ± 1.3 years (range 0.5–4 years). Etiologies were tuberous sclerosis (3 patients), trauma (1 patient), and unknown (3 patients). Mean age at surgery (± SD) was 4.1 ± 2 years (range 1–7 years), and duration of epilepsy 2.5 ± 1.1 years (range 0.5–4 years). Duration of IM was 11.7 ± 5.6 days (5–19 days). Six patients had bilateral and one unilateral invasive electrodes. At last follow‐up, four patients required fewer antiepileptic drugs (AEDs), one had the same medication but a higher dose, and two patients were taking additional AEDs. Follow‐up was 30.6 ± 9.5 months (range 19–41 months).Significance: Although uncommon, patients with TRE may improve after IM alone. The explanation for this observation remains unclear; however, perioperative medications including steroids, direct cortical manipulation, or other factors may influence the epileptogenic network.
The new ILAE report on terminology and concepts for the organization of epilepsies: Critical review and contribution
Authors: Panayiotopoulos Chrysostomos P. 
Published: January 2012

SummaryThis critical review refers to the new report on terminology and concepts for the organization of epilepsies by the Commission of the International League Against Epilepsy (ILAE). It is unfortunate that most of the proposals in the Commission’s report are modified interpretations and nomenclature of previous ILAE classifications; new terms are not better than the old ones, and recent advances have not been incorporated. Hence, the new ILAE report met with considerable dissatisfaction from several expert epileptologists. The Commission abandoned (1) the disease‐syndrome distinction, although “disease” is generally differentiated from “syndrome” in most medical texts as well as in the ILAE classification itself; (2) the distinction of “generalized” and “focal” for epileptic syndromes, despite maintaining this distinction for epileptic seizures and despite the fact that most epileptic syndromes manifest exclusively either with generalized or focal epileptic seizures; (4) the terms “idiopathic,”“symptomatic,” and “cryptogenic,” although these terms have been well defined in the previous ILAE classifications; reiterating their true meaning would be sufficient. Genetic epilepsy could be a new category and (5) the designation of “benign” epilepsies, despite the recommendations of experts at the Monreale workshop. In addition, the Commission proposed that “age at onset” be used as a primary dimension for organizing the epilepsies. However, (a) this runs counter to classification efforts of other diseases in medicine and neurology; (b) syndromes that are likely to be linked together on the basis of electroclinical (and often genetic) evidence are now separated and intermixed with a number of heterogeneous epilepsies; and (c) a considerable number of epileptic syndromes have a wide range of age at onset from childhood to adulthood. Furthermore, epilepsy syndromes were given by name only, without definition; thus we remain dependent on previous ILAE definitions, which are often broad and imprecise. The ILAE should commission consensus of opinion from experts in specific fields in order to define each syndrome. Areas of certainties and uncertainties and of agreements and disagreements should be identified and explained. This approach may be the only way toward achieving a scientifically sound and clinically meaningful organizational system for the epileptic seizures and the epilepsies—a process that would incorporate the tremendous advances in our field and would be accepted by the wider community of clinicians and scientists.
Placebo‐corrected efficacy of modern nonenzyme‐inducing AEDs for refractory focal epilepsy: Systematic review and meta‐analysis
Authors: Beyenburg Stefan , Stavem Knut , Schmidt Dieter 
Published: January 2012

SummaryPurpose:  Given serious concerns over the adverse effects of enzyme induction, modern nonenzyme‐inducing antiepileptic drugs (AEDs) may be preferable, provided they have similar efficacy as enzyme‐inducing AEDs. This is currently unclear.Methods:  Therefore, we performed a meta‐analysis of the evidence to determine the placebo‐corrected efficacy of adjunctive treatment with modern nonenzyme‐inducing AEDs versus modern enzyme‐inducing AEDs that are on the market for refractory focal epilepsy.Key Findings:  Of 322 potentially eligible articles reviewed in full text, 129 (40%) fulfilled eligibility criteria. After excluding 92 publications, 37 studies dealing with a total of 9,860 patients with refractory focal epilepsy form the basis for the evidence. The overall weighted pooled‐risk ratio (RR) in favor of enzyme‐inducing AEDs over placebo was 2.37 (95% confidence interval [CI] 1.77–3.18, p < 0.001) for at least 50% seizure reduction and 4.45 (2.26–8.76, p < 0.001) for seizure freedom. The corresponding weighted pooled RR in favor of nonenzyme‐inducing AEDs over placebo was 2.28 (95% CI 2.03–2.57, p < 0.001) for at least 50% seizure reduction and 3.23 (95% CI 2.23–4.67, p < 0.001) for seizure freedom. In a meta‐regression analysis in the same sample with at least 50% seizure reduction as outcome, the ratio of RRs for enzyme‐inducing AEDs (eight studies) versus nonenzyme‐inducing AEDs (29 studies) was 1.01 (95% CI 0.77–1.34, p = 0.92)). Similarly, the ratio of RRs for a seizure‐free outcome for enzyme‐inducing AEDs (six studies) versus nonenzyme‐inducing AEDs (19 studies) was 1.38 (95% CI 0.60–3.16, p = 0.43).Significance:  Although the presence of moderate heterogeneity may reduce the validity of the results and limit generalizations from the findings, we conclude that the efficacy of adjunctive treatment with modern nonenzyme‐inducing AEDs is similar to that of enzyme‐inducing AEDs. Given the negative consequences of enzyme induction, our data suggest that nonenzyme‐inducing AEDs may be useful alternatives to enzyme‐inducing AEDs for treatment of refractory focal epilepsy.
Seasonal association of thrombotic thrombocytopenic purpura
Authors: Park Yara A. , Poisson Jessica L. , McBee Matthew T. , Afenyi‐Annan Araba 
Published: January 2012

BACKGROUND: Thrombotic thrombocytopenic purpura (TTP), a thrombotic microangiopathy, is a clinical diagnosis, characterized by microangiopathic hemolytic anemia and thrombocytopenia without another likely explanation. Some initiators of the disease are well represented in the literature, such as certain drugs, malignancies, and viral illness; however, there are less objective factors still being investigated, with references to hormonal, stress, and seasonal variations considered anecdotally. A better insight of these factors would aid in understanding the pathophysiology of the disease.STUDY DESIGN AND METHODS: We performed a retrospective review of all idiopathic TTP cases treated with therapeutic plasma exchange at our institution from 1999 to 2008 to determine whether there was seasonal variation in TTP presentation. Seasons were defined as follows: winter = December to February; spring = March to May; summer = June to August; and fall = September to November. With the use of Poisson regression models, the incidence between seasons was compared.RESULTS: During this study period, a total of 97 cases were recorded. Summer had the highest occurrence of TTP (35%). This was significant compared to the fall (p = 0.012) and the winter (p = 0.019). There were more cases in the summer compared to the spring, but this was not significant.CONCLUSION: In our population, there was a significant difference in the number of TTP cases presenting in summer compared to fall and winter. This supports a possible environmental, infectious, or physiologic influence associated with the summer.
Radiofrequency Ablation Does Not Induce Apoptosis in the Rat Myocardium
Authors: DOS SANTOS LUIS F. , ANTONIO EDNEI , SERRA ANDREY , VENTURINI GABRIELA , OKADA MIEKO , ARAÚJO SERGIO , TUCCI PAULO , DE PAOLA ANGELO , FENELON GUILHERME 
Published: January 2012

Background:
The mechanisms implicated in the genesis of delayed radiofrequency (RF) effects remain unclear, but may be related to extension of the lesion beyond the region of coagulative necrosis. The role of apoptosis in this process has not been previously reported. We assessed whether RF promotes apoptosis in the region surrounding acute ablation lesions in a rat model.
Methods:
Wistar rats (n = 30; weight 300 g) were anesthesized, the chest was opened, and the heart was exposed. A modified unipolar RF ablation (custom catheter 4.5‐mm‐tip diameter, 12 Watts, 10 seconds) was undertaken on the left ventricular anterolateral epicardial surface and the chest was closed. After 2 hours, animals were killed for histological (hematoxylin and eosin, TdT‐mediated dUTP Nick End‐Labeling [TUNEL] assay) and immunohistochemical (anti‐BAD and anti‐caspase 3 antibodies) analysis (n = 18). Additional animals (n = 12) were sacrificed at 2 (n = 3), 24 (n = 3), 48 (n = 3), and 72 hours (n = 3) after ablation exclusively for anti‐BAD Western Blotting analysis.
Results:
Lesions were characterized by well‐defined regions of coagulative necrosis. In 18/18 (100%) animals, TUNEL assay revealed positive luminescent reaction cells in the region surrounding the lesion, extending up to 2 mm from the border zone. However, microscopic evaluation of the nuclei and immunohistochemical and anti‐BAD Western Blotting analysis were negative in all (100%) rats. Thus, positive TUNEL reaction in the periphery of the ablation lesion likely reflects nonspecific DNA damage.
Conclusion:
RF ablation does not promote apoptosis in the periphery of the myocardial lesion. This finding may have implications for the elucidation of late lesion extension following RF ablation. PACE 2012; 35:449–455)
Transcranial Doppler and Cerebral Augmentation in Acute Ischemic Stroke
Authors: Saqqur Maher , Ibrahim Mohamed , Butcher Ken , Khan Khurshid , Emery Derek , Manawadu Dulka , Derksen Carol , Schwindt Brenda , Shuaib Ashfaq 
Published: January 2012

ABSTRACTBACKGROUNDCollateral flow augmentation using partial aortic occlusion may improve cerebral perfusion in acute stroke. We assessed the effect of partial aortic occlusion on arterial flow velocities of acute stroke patients.METHODSPatients with neurological deficits following thrombolysis were treated with partial aortic occlusion. Transcranial Doppler ultrasound (TCD) was used to measure arterial flow velocities at baseline, before and during balloon inflation. The augmented mean flow velocity (MFV), peak systolic velocity (PSV), and end diastolic velocity flow percentages (aMFV%, aPSV%, aEDV%) were calculated and compared based on outcome.RESULTSOf 11 patients, 3 did not have a temporal window and thus were excluded from our analysis. Six of the remaining 8 patients had middle cerebral artery (MCA) occlusions; the final 2 had terminal internal carotid artery (TICA) occlusions. Three of these 8 patients had good outcome at 90 days (mRS < 3).Before intra‐aortic balloon inflation (IABI), the mean affected artery MFV was 23 ± 11 cm/s; during the procedure it was 26 ± 12 cm/s (P = .2). Mean affected artery PSV at baseline and during balloon inflation were 37 ± 16 and 46 ± 23, respectively (P = .1). Mean augmented affected artery MFV% in patients with good long‐term outcome was 65.4 ± 46, while the result in those with poor outcome was −3.7 ± 21 (P = .03). Three patients developed anterior cross‐filling, and of these 2 had good long‐term outcome.CONCLUSIONTCD monitoring of patients treated with IABI may help in predicting outcome in this novel device.
Target gene analyses of 39 amelogenesis imperfecta kindreds
Authors: Chan Hui‐Chen , Estrella Ninna M. R. P. , Milkovich Rachel N. , Kim Jung‐Wook , Simmer James P. , Hu Jan C‐C. 
Published: January 2012

Chan H‐C, Estrella NMRP, Milkovich RN, Kim J‐W, Simmer JP, Hu JC‐C. Target gene analyses of 39 amelogenesis imperfecta kindreds.  Eur J Oral Sci 2011; 119 (Suppl. 1): 311–323. © 2011 Eur J Oral SciPreviously, mutational analyses identified six disease‐causing mutations in 24 amelogenesis imperfecta (AI) kindreds. We have since expanded the number of AI kindreds to 39, and performed mutation analyses covering the coding exons and adjoining intron sequences for the six proven AI candidate genes [amelogenin (AMELX), enamelin (ENAM), family with sequence similarity 83, member H (FAM83H), WD repeat containing domain 72 (WDR72), enamelysin (MMP20), and kallikrein‐related peptidase 4 (KLK4)] and for ameloblastin (AMBN) (a suspected candidate gene). All four of the X‐linked AI families (100%) had disease‐causing mutations in AMELX, suggesting that AMELX is the only gene involved in the aetiology of X‐linked AI. Eighteen families showed an autosomal‐dominant pattern of inheritance. Disease‐causing mutations were identified in 12 (67%): eight in FAM83H, and four in ENAM. No FAM83H coding‐region or splice‐junction mutations were identified in three probands with autosomal‐dominant hypocalcification AI (ADHCAI), suggesting that a second gene may contribute to the aetiology of ADHCAI. Six families showed an autosomal‐recessive pattern of inheritance, and disease‐causing mutations were identified in three (50%): two in MMP20, and one in WDR72. No disease‐causing mutations were found in 11 families with only one affected member. We conclude that mutation analyses of the current candidate genes for AI have about a 50% chance of identifying the disease‐causing mutation in a given kindred.
Kallikrein‐related peptidase 4, matrix metalloproteinase 20, and the maturation of murine and porcine enamel
Authors: Hu Yuanyuan , Hu Jan C‐C. , Smith Charles E. , Bartlett John D. , Simmer James P. 
Published: January 2012

Hu Y, Hu JC‐C, Smith CE, Bartlett JD, Simmer JP. Kallikrein‐related peptidase 4, matrix metalloproteinase 20, and the maturation of murine and porcine enamel.

Eur J Oral Sci 2011; 119 (Suppl. 1): 217–225. © 2011 Eur J Oral SciThe crowns of matrix metalloproteinase 20 (Mmp20) null mice fracture at the dentino–enamel junction (DEJ), whereas the crowns of kallikrein‐related peptidase 4 (Klk4) null mice fracture in the deep enamel just above the DEJ. We used backscatter scanning electron microscopy to assess enamel mineralization in incisors from 9‐wk‐old wild‐type, Klk4 null, and Mmp20 null mice, and in developing pig molars. We observed a line of hypermineralization along the DEJ in developing wild‐type mouse and pig teeth. This line was discernible from the early secretory stage until the enamel in the maturation stage reached a similar density. The line was apparent in Klk4 null mice, but absent in Mmp20 null mice. Enamel in the Klk4 null mice matured normally at the surface, but was progressively less mineralized with depth. Enamel in the Mmp20 null mice formed as a mineral bilayer, with neither layer looking like true enamel. The most superficial mineral layer expanded during the maturation stage and formed irregular surface nodules. A surprising finding was the observation of electron backscatter from mid‐maturation wild‐type ameloblasts, which we attributed to the accumulation and release of iron. We conclude that enamel breaks in the deep enamel of Klk4 null mice because of decreasing enamel maturation with depth, and at the DEJ in Mmp20 null mice because of hypomineralization at the DEJ.
Cell proliferation and apoptosis in enamelin null mice
Authors: Hu Jan C‐C. , Lertlam Rangsiyakorn , Richardson Amelia S. , Smith Charles E. , McKee Marc D. , Simmer James P. 
Published: January 2012

Hu JC‐C, Lertlam R, Richardson AS, Smith CE, McKee MD, Simmer JP. Cell proliferation and apoptosis in enamelin null mice.  Eur J Oral Sci 2011; 119 (Suppl. 1): 329–337. © 2011 Eur J Oral SciEnamelin is a secreted glycoprotein that is critical for dental enamel formation. Ameloblasts in enamelin (Enam) null mice develop atypical features that include the absence of a Tomes’ process, expanded endoplasmic reticulum, apparent loss of polarity, and pooling of extracellular matrix in all directions, including between ameloblasts and the stratum intermedium. We hypothesized that ameloblast pathological changes may be associated with increased cell apoptosis. Our objective was to assess apoptotic activity in maxillary first molars of wild‐type, Enam+/−, and Enam−/− mice at postnatal days 5, 7, 9, 14, and 17. Mouse maxillae were characterized by light microscopy after terminal deoxynucleotidyl transferase (TdT)‐mediated biotin–dUTP nick‐end labelling (TUNEL) or 5‐bromo‐2′‐deoxyuridine (BrdU) staining. Following the initial deposition of dentin matrix, ameloblasts became highly dysplastic and no enamel crystal ribbons were deposited. Ameloblast apoptosis was observed in the Enam null mice starting in the secretory stage and with no apparent alteration in cell proliferation. We conclude that in the absence of enamelin and subsequent shutdown of enamel formation, ameloblasts undergo pathological changes early in the secretory stage that are evident as radically altered cell morphology, detachment from the tooth surface, apoptosis, and formation of ectopic calcifications both outside and inside the dystrophic enamel organ.
Biphasic influence of hypoxia on tuftelin expression in mouse mesenchymal C3H10T1/2 stem cells
Authors: Deutsch Dan , Silverstein Nechama , Shilo Dekel , Lecht Shimon , Lazarovici Philip , Blumenfeld Anat 
Published: January 2012

Deutsch D, Silverstein N, Shilo D, Lecht S, Lazarovici P, Blumenfeld A. Biphasic influence of hypoxia on tuftelin expression in mouse mesenchymal C3H10T1/2 stem cells.

Eur J Oral Sci 2011; 119 (Suppl. 1): 55–61. © 2011 Eur J Oral SciTuftelin, an acidic protein, thought to play a role in the initial stages of ectodermal enamel mineralization, has since been detected in mesenchymal‐derived tissues. During bone/cartilage development and regeneration, mesenchymal stem cells (MSCs) undergo an avascular period in a hypoxic environment, involving induction of hypoxia‐inducible factor 1‐alpha (HIF‐1‐alpha), a key component in this process. In the present study we investigated, in a mouse mesenchymal C3H10T1/2 stem cell model, the hypothesis that oxygen stress modulates tuftelin 1 expression in relation to HIF‐1‐alpha (Hif1a), in a mouse mesenchymal C3H10T1/2 stem cell model. The results of the present study showed a biphasic induction of tuftelin, similar to the pattern of HIF‐1‐alpha expression, in MSCs subjected to a hypoxic insult of 1% O2 through a period of 2–24 h. Immunocytochemistry analysis of the cells exposed to hypoxic insult for 2–24 h revealed the same biphasic pattern of tuftelin protein expression. Tuftelin localization appears to be mainly in the cytoplasm, and concentrated at the perinuclear region of the cells by 24 h of hypoxic insult. Based on our previous studies using the neuronal PC12 cell model, in which tuftelin induction was mediated by Hif1a, we propose that tuftelin is a member of oxygen‐sensitive genes and implicated in the adaptive mechanisms regulating MSC function.
Identification of a pH‐responsive DNA region upstream of the transcription start site of human NBCe1‐B
Authors: Snead Christian M. , Smith Susan M. , Sadeghein Negar , Lacruz Rodrigo S. , Hu Ping , Kurtz Ira , Paine Michael L. 
Published: January 2012

Snead CM, Smith SM, Sadeghein N, Lacruz RS, Hu P, Kurtz I, Paine ML. Identification of a pH‐responsive DNA region upstream of the transcription start site of human NBCe1‐B.  Eur J Oral Sci 2011; 119 (Suppl. 1): 136–141. © 2011 Eur J Oral SciIn rodent incisors two distinct stages of enamel formation can be identified visually based on cell morphology: the secretory stage and the maturation stage. The expression profiles of many genes characterize both stages, including the bicarbonate transport protein NBCe1. Bicarbonate is a requirement for the mineralizing enamel matrix to buffer excessive protons that form as a consequence of hydroxyapatite formation. NBCe1‐B mRNA is up‐regulated during the maturation stage of amelogenesis, where hydroxyapatite formation predominates. In this study, a presumed 572‐bp NBCe1‐B promoter region was subcloned into a reporter construct, and within this 572‐bp region of DNA we characterized a 285‐bp segment that shows an increase of ∼ 2.3‐fold in gene‐transcription activity when transfected into ameloblast‐like cells and cultured in medium maintained at pH 6.8 (vs. pH 7.4). A presumed pH‐responsive transcriptional factor‐binding domain(s) thus resides in the 285‐bp NBCe1‐B promoter region where candidate domains include the nuclear factor of kappa light polypeptide gene enhancer in B‐cells1(NFKB1), jun proto‐oncogene (JUN), and tumor protein p53(TP53)‐binding sites. Mutagenesis studies identify that both the NFKB1‐ and TP53‐binding sites are responsive to changes in the extracellular pH. These data help to explain how ameloblasts respond to the altered extracellular milieu of protons by changing their gene‐expression profile throughout the stages of amelogenesis.
Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families
Authors: Wang Shih‐Kai , Chan Hui‐Chen , Rajderkar Sudha , Milkovich Rachel N. , Uston Karen A. , Kim Jung‐Wook , Simmer James P. , Hu Jan C‐C. 
Published: January 2012

Wang S‐K, Chan H‐C, Rajderkar S, Milkovich RN, Uston KA, Kim J‐W, Simmer JP, Hu JC‐C. Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.  Eur J Oral Sci 2011; 119 (Suppl. 1): 158–167. © 2011 Eur J Oral SciDentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD‐II) and dentinogenesis imperfecta types II and III (DGI‐II and DGI‐III, respectively). We identified two kindreds with DGI‐II who exhibited vertical bands of hypoplastic enamel. Both families had a previously reported DSPP mutation that segregated with the disease phenotype. Oral photographs and dental radiographs of four affected and one unaffected participant in one family and of the proband in the second family were used to document the dental phenotypes. We aligned the 33 unique allelic DSPP sequences showing variable patterns of insertions and deletions (indels), generated a merged dentin phosphoprotein (DPP) sequence that includes sequences from all DSPP length haplotypes, and mapped the known DSPP mutations in this context. Analyses of the DSPP sequence changes and their probable effects on protein expression, as well as published findings of the dental phenotype in Dspp null mice, support the hypothesis that all DSPP mutations cause pathology through dominant‐negative effects. Noting that Dspp is transiently expressed by mouse pre‐ameloblasts during formation of the dentino–enamel junction, we hypothesize that DSPP dominant‐negative effects potentially cause cellular pathology in pre‐ameloblasts that, in turn, causes enamel defects. We conclude that enamel defects can be part of the dental phenotype caused by DSPP mutations, although DSPP is not critical for dental enamel formation.