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41.
A de novo case of hereditary neuropathy with liability to pressure palsies (HNPP) of maternal origin: a new mechanism for deletion in 17p11.2? 总被引:2,自引:1,他引:2
LeGuern E; Gouider R; Ravise N; Lopes J; Tardieu S; Gugenheim M; Abbas N; Bouche P; Agid Y; Brice A 《Human molecular genetics》1996,5(1):103-106
Hereditary neuropathy with liability to pressure palsies (HNPP) is an
autosomal dominant neuropathy, most often associated with a deletion of the
17p11.2 region, which is duplicated in 70% of patients with Charcot-
Marie-Tooth type 1 (CMT1A). Most de novo CMT1A and HNPP cases have been of
paternal origin. A rare case of de novo HNPP of maternal origin was
analysed to determine the underlying mechanism. Affected individuals in the
family carried a deletion corresponding to the CMT1A/HNPP monomer unit
associated with a rearrangement of the CMT1A-REP sequences. Segregation
analysis of 17p11-p12 markers in the family indicated that the deletion was
not generated by unequal crossing over between homologous 17 chromosomes,
as in de novo cases from paternal origin, but rather by an intrachromosomal
rearrangement. Two distinct mechanisms can therefore lead to the same
17p11.2 deletion. This result suggests that intrachromosomal rearrangement
may be specific to maternal transmissions.
相似文献
42.
Mahmoud Hassanein El-Saied A. Aly Yousf A. Abbas Samia M. El-Sigeny 《Macromolecular chemistry and physics.》1993,194(6):1817-1825
To overcome mass transfer limitations which are usually encountered on immobilizing active catalysts, cationic latex particles were used as support for the cobalt(II) complex of disodium N,N′-bis(salicylidene)ethylenediamine-5,5′-disulfonate ( 1 ). The cationic latex 2 was prepared by emulsion copolymerization of chloromethylstyrene (m/p-isomer mixture 60/40) and divinylbenzene (m/p-isomer mixture) followed by treatment with trimethylamine. The latexbound catalyst from 1 and 2 was found to considerably increase the reaction rate of the autoxidation of 2,6-di-tert-butylphenol in water as compared with the conventional polymer-free system. Reaction products were identified as the oxidative coupling product 3,3′,5,5′-tetra-tert-butyldiphenoquinone (3,3′,5,5′-tetra-tert-butyl-4,4′-dioxo-1,1′-bicyclohexa-2,5-dienylidene) and 2,6-di-tert-butyl-1,4-benzoquinone. All reactions showed an induction period before the start of dioxygen consumption. The rate of autoxidation in the three-phase mixtures of water, latex particles, and phenol droplets was not affected significantly by the method of mixing. The reaction rate increased as the concentration of 1 increased. Increasing the partial pressure of dioxygen in the range between 0,25 and 1,0 atm (2,53. 104 – 1,01. 105 Pa) gave a small increase in rate. The colloidal latex catalyst from 1 and 2 showed some loss of activity after successive runs. 相似文献
43.
Hosal SA Apel RL Freeman JL Azadian A Rosen IB LiVolsi VA Asa SL 《Endocrine pathology》1997,8(1):21-28
Molecular analyses of thyroid tumors have documented mutations in the tumor suppressor p53 gene almost exclusively in anaplastic
carcinomas. In contrast, immunohistochemistry has localized p53 in differentiated papillary and follicular thyroid cancers.
To establish the significance of p53 immunolocalization in these lesions, 78 thyroid tumors of follicular derivation were
examined. All tumors were classified by strict criteria and the extent of tumor was determined morphologically. Immunohistochemical
staining for p53 was performed on paraffin sections of formalin-fixed tumor tissue. The results of staining were correlated
with diagnosis, tumor extent and clinical outcome. Immunopositivity for p53 was diffuse and strong in all five anaplastic
carcinomas examined. There was no staining in five of six follicular adenomas. Four of nine follicular carcinomas had some
degree of nuclear staining, but this was focal; all nine tumors were confined to the thyroid at the time of examination. Of
49 papillary carcinomas, 26 were intrathyroidal, and 7 of these were occult; there was no p53 positivity in any occult lesion
and only 5 of the 19 palpable lesions stained. In contrast, among 23 papillary carcinomas with extrathyroidal extension or
metastases, only 9 were negative for p53 immunoreactivity. Five of seven tall cell papillary carcinomas and one of two insular
carcinomas had p53 immunopositivity and this correlated with aggressive behavior. These results support the tumorigenic role
of p53 mutations postulated for anaplastic thyroid carcinomas and indicate that localization of p53 by immunohistochemistry
is a useful prognostic index of clinical behavior in differentiated thyroid carcinomas of follicular cell derivation. 相似文献
44.
Patterns of cytokine secretion in murine leishmaniasis: correlation with disease progression or resolution. 总被引:9,自引:12,他引:9 下载免费PDF全文
Susceptibility or resistance to infection with Leishmania major correlates with the ability of mice to produce characteristic panels of lymphokines in response to the parasite. To investigate the role of antigen-presenting cells in this phenomenon, we developed a model system which used congenic (H-2d) susceptible and resistant mice. L. major-specific T cells were isolated from infected BALB/c and B10.D2 mice, and the cells were restimulated in vitro on syngenic or congenic antigen-presenting cells. BALB/c L. major-reactive T cells restimulated with either antigen-presenting cell produced high levels of interleukin-4 and low levels of gamma interferon. In contrast, T cells from B10.D2 mice produced gamma interferon. Radiation-induced chimeras reconstituted with BALB/c bone marrow also produced more interleukin-4 in response to L. major than did chimeras reconstituted with B10.D2 bone marrow. To test whether this pattern of cytokine secretion was unique to infection with L. major, we infected the mice with a second intracellular pathogen, Mycobacterium bovis BCG. Mycobacterium-specific T cells from both BALB/c and B10.D2 mice produced interleukin-2 and no interleukin-4. Finally, when BALB/c mice were vaccinated with avirulent L. major, the induced resistance correlated with reduced production of interleukin-4 but no increase in gamma interferon production. Instead, T cells from the vaccinated mice produced high levels of tumor necrosis factor. This suggests that tumor necrosis factor, in addition to gamma interferon, may be involved in resistance to L. major and that interleukin-4 may inhibit the leishmanicidal activity of tumor necrosis factor and/or gamma interferon. 相似文献
45.
NeJhaddadgar Nazila Ziapour Arash Zakkipour Ghader Abbas Jaffar Abolfathi Mitra Shabani Masoud 《Zeitschrift fur Gesundheitswissenschaften》2022,30(5):1301-1306
Journal of Public Health - Screening services for early detection of patients is one of the important capabilities of the health system with a proper referral system. In the crisis of respiratory... 相似文献
46.
Shayan Taheri Farshid Davoodi Abbas Raisi Amir Zakian Asghar Rajabzadeh Mohammad Hassan Hablolvarid Abdolrahman khezri Hassan Ahmadvand 《Andrologia》2021,53(6):e14049
Testicular torsion/detorsion is one of the important emergencies that requires fast surgical intervention. This study aimed to investigate the effects of Salvia miltiorrhiza hydroalcoholic extract combined with verapamil on testicular ischaemia/reperfusion damage in Wistar albino rats. All animals were distributed in 3 groups (n = 8), including the sham-operated group, torsion/detorsion (TD) group and torsion/detorsion + pretreatment with 200 mg/kg Salvia miltiorrhiza extract combined with 0.3 mg/kg verapamil (SMV) group. Oxidative stress biomarkers (MDA, GPx, CAT and TAC) both in plasma and testicular tissue, sperm parameters (motility, vitality, concentration and morphology) and histopathological parameters (MSTD, GECT, Johnson's score, Cosentino's score and testicular cell thickness) were assessed in all groups. Ischaemia/reperfusion significantly increased MDA and decreased GPx, CAT and TAC levels (p < .05). Pretreatment with SMV significantly increased GPx, CAT and TAC levels (p < .05). SMV group increased progressive sperm motility and vitality and reduced non-progressive motility of spermatozoon (p < .05). Testicular torsion significantly decreased all histopathological parameters compared to the sham group (p < .05). SMV pretreatment remarkably increased MSTD, GECT and Cosentino's score in comparison with the TD group (p < .05). A combination of Salvia miltiorrhiza with verapamil could reduce damages triggered by testicular torsion detorsion and improve sperm functionality parameters and oxidative stress defence systems. 相似文献
47.
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49.
Mohamad Kassem Ali El Habhab Guillaume Kreutter Lamia Amoura Philippe Baltzinger Malak Abbas Noura Sbat Fatiha Zobairi Valérie B. Schini-Kerth Laurence Kessler Florence Toti 《Transplantation proceedings》2021,53(5):1736-1743
BackgroundIschemia-driven islet isolation procedure is one of the limiting causes of pancreatic islet transplantation. Ischemia-reperfusion process is associated with endothelium dysfunction and the release of pro-senescent microvesicles. We investigated whether pro-senescent endothelial microvesicles prompt islet senescence and dysfunction in vitro.Material and methodsPancreatic islets were isolated from male young rats. Replicative endothelial senescence was induced by serial passaging of primary porcine coronary artery endothelial cells, and microvesicles were isolated either from young passage 1 (P1) or senescent passage 3 (P3) endothelial cells. Islet viability was assessed by fluorescence microscopy, apoptosis by flow cytometry, and Western blot. Function was assessed by insulin secretion and islet senescence markers p53, p21, and p16 by Western blot. Microvesicles were stained by the PKH26 lipid fluorescent probe and their islet integration assessed by microscopy and flow cytometry.ResultsRegardless of the passage, half microvesicles were integrated in target islets after 24 hours incubation. Insulin secretion significantly decreased after treatment by senescent microvesicles (P3: 1.7 ± 0.2 vs untreated islet: 2.7 ± 0.2, P < .05) without altering the islet viability (89.47% ± 1.69 vs 93.15% ± 0.97) and with no significant apoptosis. Senescent microvesicles significantly doubled the expression of p53, p21, and p16 (P < .05), whereas young microvesicles had no significant effect.ConclusionPro-senescent endothelial microvesicles specifically accelerate the senescence of islets and alter their function. These data suggest that islet isolation contributes to endothelial driven islet senescence. 相似文献
50.
Tsilimigras Diamantis I. Dalmacy Djhenne Hyer J. Madison Diaz Adrian Abbas Alizeh Pawlik Timothy M. 《Annals of surgical oncology》2021,28(13):8162-8171
Annals of Surgical Oncology - Racial/ethnic disparities in cancer outcomes may relate to variations in receipt of National Comprehensive Cancer Network (NCCN) guideline compliant... 相似文献