Atypical absences and recurrent absence status in an adult with Angelman syndrome due to the UBE3A mutation.

Angelman syndrome is a neurogenetic disorder resulting in refractory epilepsy and profound psychomotor retardation in its most prevalent form, caused by deletion of maternal chromosome 15q11-13. We report the case of a 29-year-old, mentally retarded man with unusual electroencephalographic changes during periods of atypical absence status epilepticus, a previously unreported manifestation of the usually milder, drug-responsive epilepsy associated with Angelman syndrome due to the UBE3A mutation.[Published with video sequences].     

Neurons in the Primate Superior Colliculus are Active Before and During Arm Movements to Visual Targets

The activity of single neurons in the superior colliculus was recorded while a rhesus monkey made arm movements to visual targets located on a screen in front of him. It was found that the activity of a subpopulation of cells was clearly related to these arm movements. The neurons began to discharge either with the onset of the movement, during the movement period, or well before the onset of electromyogram (EMG) activity and movement, and could be active for the entire duration of EMG activity. While the discharge pattern of some of these'reach'neurons was not different for movements to different target positions, other cells showed graded changes in activity depending on the direction of movement. The peak discharge rate could rise to > 100 impulses/s. Some units received somatosensory input; other reach cells exhibited a visual response and/or presaccadic activity. It is likely that the primate superior colliculus is not only involved in the initiation and control of orientating movements of the eyes but also in reaching movements of the arms.     

Unaltered immunoglobulin expression in hybridoma cells modified by targeting of the heavy chain locus with an integration vector.

Chimeric antibodies against the murine T-cell antigen Thy-1.2 were generated in amounts sufficient for in vivo studies by substituting the constant gene segments via homologous recombination in the hybridoma cell. We show that an integration vector targets the heavy chain locus at high frequency even in a non-isogenic situation. Using this vector type, for the first time expression rates were obtained that were identical to the parental hybridoma. The use of the gpt selection marker seems to be crucial for efficient expression, and may overcome a recently claimed drawback of vector integration. A chimeric antibody produced by gene targeting was characterized in vitro and in vivo.     

CMSS-VEPs: Contrast modulated steady state visual evoked potentials: Its neuronal origin and clinical use

CMSS-VEPs are presented as a sensitive, non-invasive functional investigation technique of the visual function, applicable in clinical practice. New improvements of the technique are presented. The underlying neuronal mechanisms are discussed. The clinical use is illustrated in a case of optic neuritis.     

Evaluation of postsurgical crestal bone levels adjacent to non‐submerged dental implants

In most of the studies on long-term radiographic evaluations of crestal bone levels adjacent to dental implants, no baseline radiographs taken immediately post-surgically had been obtained.The aim of this study was to test the reproducibility of a simple radiographic method for linear measurements of changes in bone levels and to evaluate changes in crestal bone levels adjacent co non-submerged ITI® implants 1 year following the surgical procedure. From 128 patients enrolled in a clinical and radiographic longitudinal study 40 patients also had radiographs taken immediately postsurgically. They were, however, not obtained as “identical” images. The radiographs were mounted onto slides and projected on a screen. Mesially and distally from 57 implants triplicate linear measurements of the distance implant shoulder to bone crest were taken, using known dimensions of the implants as internal reference distances. The median difference of 213 (out of 228 possible) duplicate measurements was 0.00 mm (ranging from ?1.72 mm to +1.47 mm when comparing the second co the third reading). Some 81% of the double measurements were within ±0.5 mm and the precision was 0.30 mm. In the immediate postoperative radiographs the median mesial bone level was located at 2.07 mm (distally 2.19 mm) from the implant shoulder. A statistically significant amount of bone loss in the first year was observed mesially (median=?0.78 mm) and distally (0.85 mm)(Wilcoxon matched pairs signed rank test ±0.001). No statistically significant influence of the implant location, the implant length, type of the implant (screw; cylinder) was observed (Kruskal-Wallis P>0.05).The age of the patients was not correlated significantly to the amount of bone loss observed. In conclusion, methodological limitations existed when evaluating linear bone changes in non-identical radiographs using reference dimensions of the implants. The amount of postsurgical bone loss estimated in other studies was confirmed when using an immediate postoperative radiograph as a baseline.     

牛胎盘中肝细胞生长因子的纯化

用高速离心、分段盐析、亲和层析、超滤和阴离子交换层析法，从牛胎盘中分离纯化出一种肝细胞生长因子。结果表明，此因子的最终得率为０．００５ｍｇ／ｇ牛胎盘，其分子量约为９９０００ｕ，它能强烈刺激原代培养大鼠肝细胞的ＤＮＡ合成。提示利用自制的亲和层析凝胶，通过此提纯流程可以得到一种肝细胞生长因子。     

Selective laser trabeculoplasty in phakic and pseudophakic eyes.

BACKGROUND AND OBJECTIVE: To evaluate the effect of pseudophakia on the success of selective laser trabeculoplasty in lowering intraocular pressure (IOP). PATIENTS AND METHODS: In this retrospective, nonrandomized clinical trial, a chart review of all patients who underwent selective laser trabeculoplasty from September 2002 to June 2004 using a frequency-doubled Q-switched 532-nm Nd:YAG laser was performed. Changes in IOP and statistical significance were determined at each follow-up period. Average decrease in IOP and success rates for phakic and pseudophakic eyes were compared statistically at each time period. RESULTS: In the phakic group, mean IOP decreased from 18.1 to 15.5 mm Hg (P < .0005) and mean glaucoma medication use decreased from 2.1 to 1.6 medications after 24 months of follow-up. In the pseudophakic group, mean IOP decreased from 18.3 to 15.2 mm Hg (P < .005) and mean glaucoma medication use decreased from 2.2 to 1.6 medications. Success rates ranged from 54% to 67% in the phakic group and 52% to 65% in the pseudophakic group. No statistically significant difference between phakic and pseudophakic eyes in decreased IOP or success rates was seen at any time point (P > .05). No significant complications occurred in either group. CONCLUSIONS: Selective laser trabeculoplasty is effective in lowering IOP in both phakic and pseudophakic patients.     

Isolation of short-wavelength-sensitive cone photoreceptors in 4-6-week-old human infants

Spectral sensitivity was measured for nine infants, 4-6 weeks of age, and three adults under conditions of chromatic adaptation chosen to reveal the presence of short-wavelength-sensitive cones. Monochromatic test stimuli (400-550 nm) were presented at 2 Hz superimposed on a broadband, yellow background. Following 4 min of adaptation to the background, test stimuli were presented while recording the steady-state, visually-evoked cortical potential (VECP). Response averages were obtained for several radiance levels at each test wavelength, and the amplitude of the fundamental frequency was extracted from the digitized response with a fast-Fourier transform. These data were used to construct response vs intensity functions for each wavelength. A fixed criterion response was chosen from the latter family of functions to generate individual spectral sensitivity curves. These VECP spectral sensitivity functions matched the psychophysically-determined functions of adults, measured by the method of adjustment and with the same stimulus configuration. Peak sensitivity for infants and adults under these conditions occurred at about 440 nm, and the main lobe of the curve (400-500 nm) was well fitted by the Vos-Walraven short-wavelength cone fundamental. The only major difference between the infant and adult data was in the relative sensitivity of the secondary mode of the curves (above 500 nm). These results demonstrate the presence of short-wavelength-sensitive cones and a functional pathway to the visual cortex by 4-6 weeks of age.