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排序方式: 共有417条查询结果,搜索用时 15 毫秒
91.
Epilepsy is frequent in fragile X syndrome (FXS), the most common cause of inherited mental retardation. Status epilepticus (SE), however, seems exceptional in FXS, particularly as an initial epileptic manifestation. To our knowledge, SE was reported in only four FXS patients. We report the clinical features and electroencephalography (EEG) findings of five children with FXS, who presented with SE as their initial seizure. 相似文献
92.
Spontaneous spinal epidural hematomas in children are very rare and, until now, have not been described in infants. Spontaneous spinal epidural hematomas is characterized by a sudden onset of acute back pain followed by acute neurological deterioration within a few hours, but in younger children the initial symptoms are often nonspecific, leading to a delay in diagnosis and treatment. Although some cases have been reported, controversy persists as to its origin, diagnosis, and timing of treatment. We present 2 new cases of this rare condition: a 7-month-old girl who suffered from acute paraplegia and, unfortunately, did not recover after adequate spinal decompression. To our knowledge, this is the first reported case of spontaneous spinal epidural hematomas in an infant. We also report a similar observation in a 13.5-year-old boy who also suffered from acute paraplegia and had only a partial recovery after urgent decompression. 相似文献
93.
Ramelli GP Gallati S Weis J Krähenbühl S Burgunder JM 《Journal of child neurology》2006,21(3):253-255
We report on a family with a 12-year-old boy who suffered from a maternally inherited syndrome characterized by a combination of sensorineural hearing loss, myoclonus epilepsy, ataxia, severe psychomotor retardation, short stature, and diabetes mellitus. First, he showed a muscular hypotonia with hearing loss; later, he developed a myoclonus epilepsy, growth failure, and severe psychomotor retardation. At the age of 10 years, he developed diabetes mellitus. After initiation of combined ubiquinone and vitamin C treatment, we observed a progression in psychomotor development. Lactate and pyruvate levels in blood and cerebrospinal fluid were normal. No ragged red fibers or ultrastructural abnormalities were seen in a skeletal muscle biopsy. Biochemical assays of respiratory chain complex activities revealed decreased activity of complexes I and IV. By sequence analysis of mitochondrial DNA encoding transfer ribonucleic acids (RNAs), a homoplasmic T to C substitution at nucleotide position 7512 was found affecting a highly conserved base pair in the tRNA(ser(UCN)) acceptor stem. Asymptomatic family members of the maternal line were heteroplasmic for the mutation in blood samples. Analysis of mitochondrial DNA in patients with hearing loss and myoclonus epilepsy is recommended, even in the absence of laboratory findings. Therapeutically, ubiquinone and antioxidants can be beneficial. 相似文献
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96.
Ursula Antonini Emiliano Alessandro Soldini Vincenzo D’Apuzzo Rainhald Brunner Gian Paolo Ramelli 《Brain & development》2013
Aim: The aim of this study was to evaluate the longitudinal neurodevelopmental evolution in children with severe non-progressive encephalopathy. Methods: Between 1984 and 2005, 17 patients diagnosed with severe non-progressive encephalopathy under the care of the Institute Provvida Madre underwent neurodevelopmental evaluation on an annual basis for at least five consecutive years using the Munich Functional Developmental Diagnostics (MFDD). The severity of each patient’s encephalopathy was assessed using the Capacity Profile (CAP). Longitudinal development trends were assessed by means of linear regression analysis, while the degree of discontinuity of the development trajectories was quantified using the Mean Absolute Deviation from Perfect Linear Development (MADPLD). Spearman’s rank correlation coefficient and the Mann–Whitney test have been used to investigate the statistical significance of the relationships among the various parameters. Results: We found that patients with severe non-progressive encephalopathy showed, on average, a linear maturation of 1.5–2.5 months per year, irrespective of the neurodevelopmental area considered. Nevertheless, we also discovered that the development trajectories could be discontinuous. Indeed, a given child can show no development sign at all for many years and then suddenly encounter a “development jump”, especially in the active language and autonomy areas. However, the long-term development linearity hypothesis seemed to hold true in our study. We also found evidences suggesting that faster development in a given domain could be linked to faster development in other domains, that higher discontinuity in a given area could be associated with higher discontinuity in other areas and that higher degrees of discontinuity could be related to lower developmental evolutions. Conclusions: The main findings of this study are important for physicians to form prognoses, counsel effectively and appropriately target therapeutic interventions. In this perspective, there is a strong need to collect long-term repeated follow-up data concerning this group of infants in order to reinforce the findings presented. In fact, these results should be considered as a starting point for further research because they are based on a limited number of patients and more data are needed to confirm the findings. 相似文献
97.
Evaluation of the chronic toxicity and oncogenicity of N,N-diethyl-m- toluamide (DEET) 总被引:1,自引:0,他引:1
Schoenig GP; Osimitz TG; Gabriel KL; Hartnagel R; Gill MW; Goldenthal EI 《Toxicological sciences》1999,47(1):99-109
Chronic toxicity and/or oncogenicity studies were conducted in rats, mice,
and dogs with the insect repellent DEET. DEET was mixed in the diet and
administered to CD rats for two years at concentrations that corresponded
to dosage levels of 10, 30 or 100 mg/kg/day for males and 30, 100, or 400
mg/kg/day for females; to CD-1 mice for 18 months at dosage levels of 250,
500, or 1000 mg/kg/day; and to dogs for one year, via gelatin capsules, at
dosage levels of 30, 100, or 400 mg/kg/day. In the rodent studies, each
group consisted of 60 animals of each sex, and two concurrent independent
control groups, each containing 60 animals/sex were included in each study.
Each group in the dog study consisted of four male and four female dogs and
one control group was included in the study. Treatment-related effects were
observed at the highest dose level in all three studies. For rats, the
effects included decreases in body weight and food consumption and an
increase in serum cholesterol in females only. In mice, the effects
observed were decreases in body weight and food consumption in both sexes.
The effects observed in dogs included increased incidences of emesis and
ptyalism, and levels of transient reduction in hemoglobin and hematocrit,
increased alkaline phosphatase (males only), decreased cholesterol, and
increased potassium. One male dog in the high-dose group also exhibited
ataxia, tremors, abnormal head movements, and/or convulsions on several
occasions during the study. The highest no- observed-effect levels (NO-ELs)
for rats, mice and dogs were determined to be 100, 500, and 100 mg/kg/day,
respectively. No specific target organ toxicity or oncogenicity was
observed in any of the studies.
相似文献
98.
99.
Two arterial banding prostheses were developed that could be dilated by an intraluminal balloon dilator. One prosthesis consisted of radiopaque umbilical tape with a pleat secured by four 8-0 silk sutures thinly coated with silicone type A medical adhesive. This design was used to band the main pulmonary artery in five dogs, the subclavian artery in five, and the aorta in one. The second prosthesis, a stainless steel fatigued helix encased in a siliconized shield, was used to band the main pulmonary artery in two dogs and the descending aorta in two. After a mean duration of 89 days the bands were dilated with an intraluminal balloon dilator at 6 atm (608 kPa) of pressure for 30 seconds. In all 15 experiments the bands dilated and the gradient at the band was reduced. The stainless steel helix was more successful and has technical advantages for clinical application. 相似文献
100.