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排序方式: 共有1957条查询结果,搜索用时 15 毫秒
81.
82.
Christodoulou K Zamba E Tsingis M Mubaidin A Horani K Abu-Sheik S El-Khateeb M Kyriacou K Kyriakides T Al-Qudah AK Middleton L 《Annals of neurology》2000,48(6):877-884
Distal hereditary motor neuronopathies (dHMNs) form a heterogeneous group of rare disorders characterized by distal weakness and wasting in the limbs with no significant sensory involvement. Harding has classified dHMNs into seven categories based on clinical and genetic criteria. We report a novel form of autosomal recessive dHMN in 7 consanguineous families located in the Jerash region of Jordan. Onset of the disease is between 6 and 10 years of age and is characterized by weakness and atrophy of the lower limbs associated with pyramidal features. Within 2 years, symptoms progress to the upper limbs. Neurophysiological studies typically show normal conduction velocities, reduced compound motor action potential amplitudes, normal sensory nerve action potentials, and chronic neurogenic changes on needle electromyography. No significant abnormalities are seen on sural nerve biopsy. We call this novel form of dHMN Jerash hereditary motor neuronopathy. We studied the families at the molecular genetic level and mapped the Jerash hereditary motor neuronopathy gene to an approximately 0.54-cM region on chromosome 9p21.1-p12, flanked by microsatellite polymorphic marker loci D9S1845 and D9S1791. A maximum LOD score of 19.80 at theta = 0.001 was obtained between the disease and locus D9S1878. 相似文献
83.
Dimitris Loutradis Konstantinos Stefanidis Ioannis Kousidis Ritsa Bletsa Peter Drakakis Spyros Milingos Nikolaos Makris Stylianos Michalas 《Gynecological endocrinology》2005,20(1):26-29
The aim of this study was to investigate the effect of human hydrosalpinx fluid (HF) on the development and blastulation of mouse embryos and the role of the concentration of growth factors in culture medium with and without HF. In total, 2100 mouse embryos were cultured. Female mice were induced to superovulate and then mated with males. Two-cell-stage embryos were recovered from the oviduct and cultured in Ham's F-10 medium with bovine serum albumin and HF. Epidermal growth factor (EGF) and insulin-like growth factor-I (IGF-I) were analyzed by quantitative enzyme immunoassay. Mean blastulation index of 1.11, 0.97 and 0.98 was found at HF concentration of 5%, 20% and 30%, respectively (p = 0.8). The mean value of EGF in the control culture medium without HF was 11.2 pg/ml, which was statistically significantly different from that in culture medium containing HF (p < 0.001). The mean value of IGF-I in the control group without HF was 1.30 pg/ml and was not statistically significantly different from that in culture medium containing HF. Development of the two-cell-stage embryos was not affected at low (< 30%) HF concentrations. In conclusion, the present study demonstrates that even apparently normal blastulation is affected by any concentration of HF because of low embryonic EGF. 相似文献
84.
H Gogas C Papadimitriou H P Kalofonos D Bafaloukos G Fountzilas D Tsavdaridis A Anagnostopoulos A Onyenadum P Papakostas T Economopoulos C Christodoulou P Kosmidis C Markopoulos 《Annals of oncology》2002,13(11):1737-1742
BACKGROUND: To determine the activity and safety of the combination of paclitaxel and pegylated liposomal doxorubicin (Caelyx) in patients with locally advanced breast cancer. PATIENTS AND METHODS: This was a multicenter phase II study. Thirty-five newly diagnosed patients with locally advanced breast cancer were included in the study. Histological or cytological diagnosis was necessary for inclusion. Median age was 54 years (range 26-73 years). Fifteen patients were premenopausal and 20 postmenopausal. Paclitaxel was administered at a dose of 175 mg/m(2) and pegylated liposomal doxorubicin 35 mg/m(2) every 3 weeks for six cycles. RESULTS: Twenty-five patients (71%) responded. Six (17%) had a complete response, 19 (54%) had a partial response, four remained stable, two progressed and four were not evaluated for response due to discontinuation of chemotherapy. Three patients had a pathologically complete response. A total of 173 cycles were administered. The primary toxicity observed was skin toxicity. Grade 3 skin toxicity was noted in four patients (11%). Palmar-plantar erythrodysesthesia (PPE) grade 3 was experienced by three (9%). Two patients presented with PPE and skin toxicity. Hematological toxicities included grade 3 leukopenia in four patients (3%). Other grade 3 toxicities were uncommon and included only alopecia in 29 patients (83%). Grade 3 or 4 neurotoxicity was not observed in any patient. Dose reduction was necessary in seven patients; in six due to skin toxicity and in one due to neutropenia. Four patients discontinued treatment due to skin toxicity. There were no treatment-related deaths. CONCLUSIONS: The combination of pegylated liposomal doxorubicin and paclitaxel was active in locally advanced breast cancer. The primary toxicity was cutaneous toxicity and it was manageable. 相似文献
85.
86.
Leonard H Fyfe S Dye D Hockey A Christodoulou J 《Journal of paediatrics and child health》2000,36(4):336-339
BACKGROUND: Rett syndrome is a neurological disorder, almost exclusively affecting girls. METHODOLOGY: Between 1993 and 1995 pedigree data were obtained from families of girls registered with the Australian Rett syndrome database. RESULTS: Although 21 individual disorders were reported to be present in family members of affected girls, there was no apparent clustering of the same disorder in different families. However it was certain that a geneticist had been involved in only 10.9% of cases. CONCLUSIONS: Mutations in the MECP2 gene have now been reported in a proportion of sporadic cases. Thus, it will be important to examine this phenotype-genotype correlation in the Australian cohort. Where a mutation is found, prenatal diagnosis in a subsequent pregnancy will be a possibility. Using the Australian population database and in conjunction with the clinical genetic services in each state it is planned to contact families with an affected girl to offer testing and counselling. 相似文献
87.
88.
Penelope Korkolopoulou Panayota Christodoulou Athanasios Papanikolaou Artemis Tsenga Euphemia Thomas-Tsagli 《Journal of cancer research and clinical oncology》1994,120(7):393-398
The proliferative activity in 70 cases of soft-tissue tumours was estimated immunohistochemically using the monoclonal antibody PC-10, which recognizes proliferating-cell nuclear antigen (PCNA) in paraffin sections. The PCNA index (i.e. the percentage of positive neoplastic nuclei) and to a lesser degree the PCNA count (i.e. the number of positive neoplastic nuclei per ten high-power fields) positively correlated with the malignancy grade (PCNA index:P<0.001; PCNA count:P<0.01). However, the range of values of PCNA index and PCNA count was similar between benign and grade I tumours. A statistically significant positive correlation was also established between PCNA index and PCNA count on the one hand and mitotic count on the other, but the correlation coefficient was low (r=0.351,P<0.01, andr=0.290,P<0.05 respectively). These results indicate that PCNA immunostaining may successfully be used as an adjunct to the conventional histopathological parameters in assessing the malignancy grade in soft-tissue tumours although it is of limited value in distinguishing between benign and grade I tumours.Abbreviations PCNA
proliferating-cell nuclear antigen
- HPF
high-power field 相似文献
89.
90.
P. M. Rinteris G. N. Christodoulou A. M. Souvatzoglou D. A. Koutras C. N. Stefanis 《Acta psychiatrica Scandinavica》1978,58(1):56-60
The mean free-thyroxine index value of a group of 25 psychotic depressive patients was found to be significantly lower than that of an age- and sex-matched group of 20 neurotic depressives (P>0.01). These findings support the view that psychotic and neurotic expression, are differentiated not only with respect to their clinical expression, but also on account of their biological substrate. Comparison of free-thyroxine index values of each group of patients with a group of 240 euthyroid subjects hospitalized for various somatic illnesses revealed a lower mean free-thyroxine index value in the group of psychotic depressives (P>0.001). The neurotic depressives were not differentiated from the group of euthyroid subjects. The decreased thyroid activity in psychotic depression might be interpreted in the light of recent findings implicating catecholamines in both the release of hypothalamic hormones and the neurochemical mechanism of the affective disorders. 相似文献