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排序方式: 共有1358条查询结果,搜索用时 15 毫秒
1.
Phillip F. Chance 《Neuromolecular medicine》2006,8(1-2):159-173
Hereditary neuropathy with liability to pressure palsies (HNPP; also called tomaculous neuropathy) is an autosomal-dominant
disorder that produces a painless episodic, recurrent, focal demyelinating neuropathy. HNPP generally develops during adolescence,
and may cause attacks of numbness, muscular weakness, and atrophy. Peroneal palsies, carpal tunnel syndrome, and other entrapment
neuropathies may be frequent manifestations of HNPP. Motor and sensory nerve conduction velocities may be reduced in clinically
affected patients, as well as in asymptomatic gene carriers. The histopathological changes observed in peripheral nerves of
HNPP patients include segmental demyelination and tomaculous or “sausage-like” formations. Mild overlap of clinical features
with Charcot-Marie-Tooth (CMT) disease type 1 (CMT1) may lead patients with HNPP to be misdiagnosed as having CMT1. HNPP and
CMT1 are both demyelinating neuropathies, however, their clinical, pathological, and electrophysiological features are quite
distinct. HNPP is most frequently associated with a 1.4-Mb pair deletion on chromosome 17p12. A duplication of the identical
region leads to CMT1A. Both HNPP and CMT1A result from a dosage effect of the PMP22 gene, which is contained within the deleted/duplicated region. This is reflected in reduced mRNA and protein levels in sural
nerve biopsy samples from HNPP patients. Treatment for HNPP consists of preventative and symptom-easing measures. Hereditary
neuralgic amyotrophy (HNA; also called familial brachial plexus neuropathy) is an autosomal-dominant disorder causing episodes
of paralysis and muscle weakness initiated by severe pain. Individuals with HNA may suffer repeated episodes of intense pain,
paralysis, and sensory disturbances in an affected limb. The onset of HNA is at birth or later in childhood with prognosis
for recovery usually favorable; however, persons with HNA may have permanent residual neurological dysfunction following attack(s).
Episodes are often triggered by infections, immunizations, the puerperium, and stress. Electrophysiological studies show normal
or mildly prolonged motor nerve conduction velocities distal to the affected brachial plexus. Pathological studies have found
axonal degeneration in nerves examined distal to the plexus abnormality. In some HNA pedigrees there are characteristic facial
features, including hypotelorism. The prognosis for recovery of normal function of affected limbs in HNA is good, although
recurrent episodes may cause residual deficits. HNA is genetically linked to chromosome 17q25, where mutations in the septin-9 (SEPT9) gene have been found. 相似文献
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Kindergarten and first grade: A time for developing and nurturing gifted behaviors in young children
Patti L. Chance 《Early child development and care》1990,63(1):75-81
This article concludes that there is a tremendous need for gifted programs at the kindergarten and first grade levels. A review of the literature suggests that it is difficult to identify young gifted children through traditional screening techniques. The author concludes that Renzulli's Enrichment Triad Model may prove useful for identifying young gifted children. 相似文献
6.
SUMMARY A case congenital dislocation of both knees and dislocation of the left hip in an infant whose mother had a chronic amniotic fluid leakage after mid-trimester amniocentesis. 相似文献
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8.
M K Campbell G W Chance R Natale N Dodman E Halinda L Turner 《Canadian Medical Association journal》1991,144(3):305-312
OBJECTIVE: To determine whether perinatal care in southwestern Ontario is regionalized, to identify trends over time in referral patterns, to quantify trends in perinatal death rates and to identify trends in perinatal death rates that give evidence of regionalization. DESIGN: Cohort study. SETTING: Thirty-two hospitals in southwestern Ontario (1 level III, 1 modified level III and 30 level II or I). PATIENTS: All pregnant women admitted to the hospitals and their infants. MAIN OUTCOME MEASURES: Antenatal and neonatal transfer status, live-born with discharge home alive from hospital of birth, stillborn, and live-born with death before discharge. RESULTS: Between 1982 and 1985 the antenatal transfer rate increased from 2.2% to 2.8% (p less than 0.003). The proportion of births of infants weighing 500 to 1499 g increased from 49% to 69% at the level III hospital. The neonatal transfer rate increased from 26.2% to 47.9% (p less than 0.05) for infants in this birth-weight category and decreased from 10.2% to 7.1% (p less than 0.03) for infants weighing 1500 to 2499 g. The death rate among infants of low birth weight was lowest among those born at the level III centre and decreased at all centres between 1982 and 1985. CONCLUSIONS: Perinatal care in southwestern Ontario is regionalized and not centralized; regionalization in southwestern Ontario increased between 1982 and 1985. 相似文献
9.
高效液相色谱法测定右旋儿茶素血浆浓度及药代动力学参数 总被引:1,自引:0,他引:1
本文建立了体液中右旋儿茶素的RP-HPLC测定方法。采用C_(18)键合相硅胶为填料的固相提取柱进行样品预处理,右旋儿茶素的提取回收率为79.8%.应用二极管阵列检测器对色谱峰纯度进行鉴定。该法精密度好,方法回收率近100%,日内、日间的变异系数为2.4~5.6%,血浓69.6~1160 ng/ml范围内呈线性关系,r=0.9993。家兔静注右旋儿茶素18mg/kg,其药代动力学过程符合二室模型,分布相半衰期为0.129 h,消除相半衰期为1.19h。 相似文献
10.
Insulin and acivicin improve host nutrition and prevent tumor growth during total parenteral nutrition. 总被引:2,自引:1,他引:1 下载免费PDF全文
The effect that a 14-day treatment program of total parenteral nutrition (TPN) combined with the glutamine antimetabolite, acivicin, and anabolic hormone, insulin, has on carcass weight and muscle sparing was investigated in tumor-bearing rats. Although TPN resulted in increased carcass weight gain as compared to chow-fed tumor-bearing rats, no savings in gastrocnemius muscle could be demonstrated. The combination of TPN with daily insulin treatment elicited significant increases in both carcass weight and muscle savings, with no alteration in tumor growth. Although combining acivicin with TPN halted tumor growth and increased carcass weight, the change in carcass weight was less than that observed with the insulin-TPN combination. No muscle savings were observed in the acivicin-TPN-treated rats. Yet when acivicin and insulin were combined with TPN, tumor growth was stopped, carcass weight was gained, and muscle mass was saved. Therefore, these experiments suggest that it is possible to add lean body tissue and stabilize tumor growth in rats that receive TPN through anabolic hormone treatment combined with an inhibitor of tumor metabolism. 相似文献