Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

ObjectiveThe clinical and neurophysiological characteristics of myoclonus in Angelman syndrome (AS) have been evaluated in single case or small cohorts, with contrasting results. We evaluated the features of myoclonus in a wide cohort of AS patients.MethodsWe performed polygraphic EEG-EMG recording in 24 patients with genetically confirmed AS and myoclonus. Neurophysiological investigations included jerk-locked back-averaging (JLBA), cortico-muscular coherence (CMC) and generalised partial directed coherence (GPDC). CMC and GPDC analyses were compared to those obtained from 10 healthy controls (HC).ResultsTwenty-four patients (aged 3–35 years, median 20) were evaluated. Sequences of quasi-continuous rhythmic jerks mostly occurred at alpha frequency or just below (mean 8.4 ± 1.4 Hz), without EEG correlate. JLBA did not show any clear transient preceding the jerks. CMC showed bilateral over-threshold CMC in alpha band that was prominent on the contralateral hemisphere in the patient group as compared to HC group. GPDC showed a significantly higher alpha outflow from both hemispheres toward activated muscles in the patient group, and a significantly higher beta outflow from contralateral hemisphere in the HC group.ConclusionsThese neurophysiological findings suggest a subcortical generator of myoclonus in AS.SignificanceMyoclonus in AS has not a cortical origin as previously hypothesised.     

Horizontal advancement flap for lateral dorsal nasal defects

BACKGROUND: Repairing dorsal nasal defects is a frequent challenge for dermatologic surgeons, mainly due to the high frequency of basal cell carcinomas on this site. Obvious scars, mismatched skin and distortion of the nasal contour are the surgical hazards that must be avoided in these cases. AIM: Our aim was to perform surgery involving a simple flap in order to repair medium to large defects on the dorsal side of the nose. METHODS: The dorsal horizontal advancement flap was studied in 12 patients, in order to evaluate the benefits and limits of this surgical procedure. RESULTS: The resulting scars on most of our patients were well-camouflaged among their natural skin lines, and there was neither distortion of the alar contour nor the nostril. CONCLUSIONS: This flap is easy to perform and, in selected cases, provides an outstanding alternative to second-intention healing, full-thickness skin grafts, transposition, rotation and pedicle flaps.     

软硬腭前移鼻咽下口扩大术初步报告

目的:运用软硬腭前移的手术方法扩大鼻咽下口,改善因鼻咽部狭小致阻塞性睡眠呼吸暂停综合征患者的呼吸暂停症状。方法:手术切除硬腭后份使其缩短、悬雍垂软腭成形并将软腭拉向前,扩大鼻咽下口。结果:患者术后自觉症状及客观评价疗效满意。结论:软硬腭前移鼻咽下口扩大显著改善鼻咽下口狭小导致的阻塞性睡眠呼吸暂停患者的症状。     

Discriminative conditioning-related slow potential and single-unit responses in the frontal cortex of urethane-anesthetized rats

A model is described for obtaining long-term and stable discriminative conditioning-related slow-potential and single-unit responses from the frontal cortex of urethane-anesthetized rats. Responses were recorded and analyzed to reinforced (rewarding medial forebrain bundle stimulation) and non-reinforced tone cues. In the present study, cortical event-related slow potentials provided an adequate index of the level of discriminative conditioning. Single-unit response patterns are described for 57 neurons which demonstrated a discriminative response to either the reinforced or non-reinforced tone cue.     

Acute encephalopathy associated with influenza and other viral infections

Acute encephalopathy is the most serious complication of pediatric viral infections, such as influenza and exanthem subitum. It occurs worldwide, but is most prevalent in East Asia, and every year several hundreds of Japanese children are affected by influenza-associated encephalopathy. Mortality has recently declined, but is still high. Many survivors are left with motor and intellectual disabilities, and some with epilepsy. This article reviews various syndromes of acute encephalopathy by classifying them into three major categories. The first group caused by metabolic derangement consists of various inherited metabolic disorders and the classical Reye syndrome. Salicylate is a risk factor of the latter condition. The second group, characterized by a systemic cytokine storm and vasogenic brain edema, includes Reye-like syndrome, hemorrhagic shock and encephalopathy syndrome, and acute necrotizing encephalopathy. Non-steroidal anti-inflammatory drugs, such as diclofenac sodium and mephenamic acid, may aggravate these syndromes. Severe cases are complicated by multiple organ failure and disseminated intravascular coagulation. Mortality is high, although methylprednisolone pulse therapy may be beneficial in some cases. The third group, characterized by localized edema of the cerebral cortex, has recently been termed acute encephalopathy with febrile convulsive status epilepticus, and includes hemiconvulsion-hemiplegia syndrome and acute infantile encephalopathy predominantly affecting the frontal lobes. Theophylline is a risk factor of these syndromes. The pathogenesis is yet to be clarified, but an increasing body of evidence points to excitotoxicity and delayed neuronal death.     

额叶内侧面损伤的临床特点及救治

目的 总结17例额叶内侧面损伤的临床特点及救治经验。方法 对我科1999年7月至2003年4月收治的额叶内侧面损伤患者进行回顾性分析。结果 手术治疗1例，恢复良好，保守治疗16例，其中恢复良好12例，中残2例，死亡2例，全组死亡率11．77％。结论 额叶内侧面损伤一般意识障碍较轻，但易直接发生枕骨大孔疝，严密观察病情及动态CT检查，颅内压监测，不拘泥传统手术指征，及时抓住手术时机，可有效降低致残率及死亡率。     

Outcome after traumatic frontal intracerebral haemorrhage: a comparison of unilateral and bilateral haematomas

Frontal intracerebral haemorrhage (ICH) is a common result of cranial trauma. Outcome differences between bilateral and unilateral frontal ICH are not well studied but would be valuable to predict prognosis in clinical practice. Two aims are proposed in this study: first to compare the risk of developing delayed ICH after bilateral or unilateral frontal ICH, and second to determine the variables helpful to predict outcome according to the Glasgow Outcome Scale (GOS). Between January 1993 and December 1997, 694 consecutive patients with traumatic ICH were admitted to the Chang Gung Medical Center within 24 h of the trauma. Patients with ICH in sites other than the frontal lobes were excluded. A total of 161 cases (mean age 46.3+/-20.3 years), including 57 bilateral (mean age 52.5+/-18.7 years) and 104 unilateral (mean age 42.9+/-20.5 years) traumatic frontal ICH were studied. Twenty-eight of 57 patients (49%) with bifrontal ICH versus 17 of 104 patients (16%) with unilateral frontal ICH had a further, delayed ICH. In 42 of 45 patients (93%) with delayed ICH, this occurred within 5 days of the initial trauma. Multivariate logistic regression was used to select significant predictors of outcome. We found that delayed ICH (p<0.001), age (p=0.004) and mechanism of injury (p=0.001) explained the worse outcome in patients with bifrontal ICH. The best-fitting logistic regression model included three variables: delayed ICH (p=0.011), initial GCS (p=0.023), and a sum score of clinical and radiological variables (p=0.003). Bifrontal ICH tended to occur in older patients after a fall and was associated with a higher risk of developing delayed ICH or brain stem compression compared to unilateral ICH damage. Using these three variables - delayed ICH, initial GCS, and the sum score - in a logistical regression model is useful to predict outcome in patients with traumatic frontal ICH and may aid patient management.