Seizures in Klinefelter's syndrome: A clinical and EEG study of five patients

In this study, we report the cases of five unrelated patients with Klinefelter's syndrome and seizures or EEG epileptiform abnomalities; the karyotype was 47,XXY in four, and 47,XXY/46,XX in one. They were aged 13–25 years and followed up both clinically and by means of EEG. Two of the patients had epilepsy, one had only one isolated generalized tonic-clonic seizure, one had febrile convulsions and one presented focal epileptiform EEG abnormalities without seizures. In two of the patients, it was possible to classify the epilepsy (childhood epilepsy with occipital paroxysms and cryptogenic or symptomatic generalized epilepsy). Although the electroclinical patterns appeared to be rather heterogeneous in our patients, it is possible to infer the relative good evolution of seizures in Klinefelter's syndrome.

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Sommario In questo studio sono riportati 5 pazienti con sindrome di Klinefelter e crisi epilettiche o anomalie parossistiche all'EEG. In 4 soggetti il cariotipo era 47,XXY mentre in uno esso era 47,XXY/46,XX. L'età dei pazienti era compresa tra 13 e 25 anni; tutti sono stati seguiti nel tempo da un punto di vista clinico ed EEGrafico. Due pazienti erano affetti da epilessia, uno aveva presentato una crisi generalizzata tonico-clonica isolata, uno aveva presentato convulsioni febbrili e uno mostrava solo anomalie parossistiche focali all'EEG senza aver mai apparentemente presentato crisi. In due pazienti è stato possibile classificare l'epilessia (epilessia dell'infanzia a parossismi occipitali ed epilessia generalizzata criptogenetica o sintomatica). Sebbene il pattern elettroclinico nei nostri pazienti sembri piuttosto eterogeneo, è possibile inferire una certa benignità del quadro epilettologico nella sindrome di Klinefelter.

     

Functional muscle partitioning during voluntary movement: Facial muscle activity for speech

Electromyographic activity was recorded from multiple intramuscular sites in the orbicularis oris muscle for a set of speech and other motor tasks. Because of its geometric heterogeneity and multiple functions, it was hypothesized that this muscle might be partitioned in a task-dependent manner. Comparison of the timing and amplitude of the EMG activity among the multiple recording sites supported this hypothesis. Because some facial motoneurons in primates, including humans, are monosynaptically activated from area 4 of the motor cortex, it is suggested that this task-dependent muscle partitioning may reflect an aspect of cortical organization.     

The smile buccal corridors: aesthetic value for dentists and laypersons

The purpose of this study is to assess the aesthetic value of "buccal corridors" on smile attractiveness as judged by dentists and laypersons. In order to evaluate the aesthetic impact of the "buccal corridors", a pleasant smile (frontal view) was scanned (Scanner HP 5490C, 1200 x 1200 dpi) and modified (Adobe Photoshop 5.0) by a professional computer technician. Three pictures have been produced, one with minimal corridors (no 1), another with evident corridors (no 2), and a third one with moderate corridors (no 3). During a survey 1275 laypersons (413 M, 862 F; 14 to 77 years) and 646 dentists (361 M, 285 F; from 25 to 80 years) were asked to indicate the most pleasant and the most unpleasant smile and to fill in a short questionnaire; the data have been statistically evaluated through an ANOVA test. Among the laypersons: 838 (65.72%) chose the first smile; 91 (7.13%) the second one; whereas 346 (27.13%) the third one. The differences are statistically significant (p .05); no statistical differences were found by analyzing the gender and the age of the groups. Among the dentists: 481 (74.46%) preferred the first smile; 44 (6.81%) the second one; whereas 121 (18.73%) the third one, the differences are statistically significant (p .05), no statistical differences were found by analyzing the gender and the age of the groups. Moreover no statistical differences were found by comparing the two different groups. Therefore, a full, broad smile with minimal "buccal corridors" seems to please dentists as well as laypersons and age and gender were not relevant.     

Perturbations in the fibrinolytic pathway abolish cyst formation but not capillary-like organization of cultured murine endothelial cells

Fibrinolytic activity and its relation to morphogenesis was investigated in several transformed murine endothelial cell lines and primary cultures of endothelial cells. Two in vitro systems, fibrin gels and Matrigel (Collaborative Research, Bedford, MA), were used. Fibrin gels model a fibrin-rich extracellular matrix that frequently supports neovascularization in vivo, and Matrigel models the basement membrane surrounding quiescent endothelial cells in vivo. The transformed endothelial cell lines have higher levels of plasminogen activator (PA) mRNA than primary cultures of endothelial cells, and an increased PA-mediated proteolytic activity was correlated with formation of cysts in fibrin gels. Addition of neutralizing anti- urokinase antibodies, plasminogen depletion, or addition of a plasmin inhibitor prevented cyst formation. Addition of plasminogen restored the ability to form cysts in the plasminogen-depleted system. Normal endothelial cells organized into capillary-like structures in fibrin gels regardless of manipulations affecting the fibrinolytic pathway. In Matrigel, both transformed and primary cultures of endothelial cells rapidly formed a capillary-like network that was not affected by plasminogen depletion or addition of plasmin inhibitors. Thus, elements of the fibrinolytic pathway necessary for cyst formation are not critical in capillary-like structure formation on a reconstituted basement membrane. These results suggest that plasmin is essential for hemangioma formation but is not critical to the organizational behavior of normal endothelial cells.     

Coordination of oral and laryngeal movements in the perceptually fluent speech of adults who stutter.

This work investigated whether stuttering and nonstuttering adults differ in the coordination of oral and laryngeal movements during the production of perceptually fluent speech. This question was addressed by completing correlation analyses that extended previous acoustic studies by others as well as inferential analyses based on the within-subject central tendency and variability of acoustic and physiological indices of oral-laryngeal control and coordination. Stuttering and nonstuttering adults produced the target /p/ as the medial consonant in C(1)V(1)#C(2)V(2)C(3) sequences (C = consonant; V = vowel or diphthong; # = word boundary) embedded in utterances differing in length and location of the target movements. No between-groups differences were found for across- or within-subject correlations between acoustic measures of stop gap and voice onset time (VOT). However, the acoustic data did show longer durations for devoicing interval and VOT in the stuttering versus nonstuttering individuals, in the absence of a difference for a proportional measure specifically reflecting oral-laryngeal relative timing. Analyses of combined kinematic and electroglottographic data revealed that the stuttering individuals' speech was also characterized by (a) longer durations from bilabial closing movement onset and peak velocity to V(1) vocal fold vibration offset and (b) greater within-subject variability for dependent variables that were physiological indices of devoicing interval and VOT, but again no between-groups differences were found for specific indices of oral-laryngeal relative timing. Overall, findings suggest that, for the production of voiceless bilabial stops in perceptually fluent speech, stuttering and nonstuttering adults differ in the duration of intervals defined by events within as well as across the oral and laryngeal subsystems, but the groups show similar patterns of relative timing for the involved oral and laryngeal movements.     

在印度献血者中真正的HIV血清阳性率

在1992年印度政府筹建了国家AIDS病控制署(NACO),它从属于卫生部,作为国家预防AIDS传播的一个关键机构。NACO近期报告表明在一些人群中HIV感染已经到了非常高的警戒水平。如异性性乱者中HIV阳性率38.2％,献血者中8.2％,疑似AIDS病例17.5％,静脉注射毒品者4.9％和其他27.7％。这些数据来源于国内55个HIV血清监测中心。印度一般人群中HIV总血清阳性率,1995年为7/1000,1996年16.5/1000,1997年21.1/1000。HIV感染的增长趋势表明该疾病在社会上迅速传播。然而上面有此数据多和难以置信。例如献血员中达到8.2％。但这些献血者可能不是真正的自愿献血者。由于仅作HIV EIA一次检测,就可能出现假阳性。但是,HIV感染率存