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51.
A human recessive neurosensory nonsyndromic hearing impairment locus is a potential homologue of the murine deafness (dn) locus 总被引:1,自引:1,他引:1
Jain Pawan K.; Fukushima Kunihiro; Deshmukh Dilip; Ramesh Arabandi; Thomas Elizabeth; Lalwani Anil K.; Kumar Subrinder; Ploplis Barbara; Skarka Hana; Srisailapathy C.R.Srikumari; Wayne Sigrid; Zbar Ross I.S.; Verma Ishwar C.; Smith Richard J.H.; Wilcox Edward R. 《Human molecular genetics》1995,4(12):2391-2394
A locus for recessive neurosensory nonsyndromic hearing impairmentmaps to chromosome 9q13q21 in two regionally separateconsanguineous families from India. Each family demonstratesa LOD score greater than 4.5 to this region. D9S15, tightlylinked to the Friedreich's ataxia locus, a region that has beendefined with over 1 Mb of YAC contig information and severalexpressed sequences, is one of the flanking markers. In mice,the deafness (dn) locus maps to mouse chromosome 19 and flankingloci are syntenic to human chromosome 9q11q21. The dnmouse is a potential model for the hearing impairment foundin both these families. 相似文献
52.
Narayan P. Verma Cynthia D. Nichols Manfred F. Greiffenstein Rajinder P. Singh Deborah Hurst-Gordon 《Brain topography》1989,1(3):183-191
Summary Thirty subjects (normal controls, patients with putative subcortical dementia and non-demented patient controls) were studied using advanced neurophysiological (16 scalp-electrode positions, computer-assisted brain electrical activity mapping, auditory oddball paradigm) and neuropsychological techniques. Our study suggests that waves earlier than P3 (N1, P2 and N2) are all correlated with global measures of cognitive functions. They are, however, differentially correlated with specific measures of cognitive functions, N1 and P2 with mental speed and N2 with short-term memory. The abnormalities of these waves (earlier than P3) may be an electrophysiologic marker of dementia in patients with putative subcortical states. 相似文献
53.
The chronological activation of the signaling molecules following whole body gamma-irradiation was investigated in mouse liver. The activity of two kinases, tyrosine kinase and protein kinase C (PKC), was found to respond differently to gamma-irradiation. Tyrosine kinase was found to respond to much lower doses of irradiation (10 cGy), whereas PKC was found to be activated at comparatively higher doses (3 Gy). Tyrosine kinase showed a sharp activation at 30 min and then a decline to normal values at 1 h. Activation of PKC was apparent at as early as 15 min of irradiation and showed a maximal increase at 30 min. This was followed by a decline to normal values at 1 h. The response of the whole organ was found to be different from that of reported effects on a single cell. These results suggest that the data obtained from the single-cell studies would have limited application in the experiments involving the whole animal. Interruption of these signals at various steps is currently being used to manipulate tumor response to radiotherapy. In such cases, the difference in response of a single cell and a whole animal must be considered. 相似文献
54.
Seventy six cases of neonatal tetanus were studied. There was preponderance of males. Short incubation period, short period of onset, low birth weight, presence of fever and tachycardia were associated with a poor prognosis. The cases were divided into 2 groups of 46 and 30. First group was given TIG while second group was given ATS. All other therapies were kept identical. Mortality rate in two groups was 97.5% and 96.5%. Corrected mortality due to tetanus per se was 22.5% and 28.5% (p-0.5). Fifteen cases (32.7%) and 12 cases (40%) in group A & B respectively were born to mothers who had already received one to three doses of tetanus toxoid. The potency of the vaccine should be ensured before it is administered to mothers, through proper maintenance of cold chain. It is concluded that TIG is not superior to ATS in managing moderate and severe grade cases. 相似文献
55.
Stress-induced analgesia: adaptive pain suppression 总被引:7,自引:0,他引:7
In this paper we have examined the phenomenon of stress-induced analgesia. We have described the procedures used to measure analgesia and have suggested that the tests can be designed not only to indicate changes in pain threshold but also to allow for the determination of the capacity to execute adaptive behavior. Aside from enabling the analysis of responses, tests that induce reflexive as well as nonreflexive behavior may have the capacity to separate the more complex aspects of pain such as the possible presence of two components of pain, sensory/discriminative and motivational/affective. These components may be of fundamental importance for any attempt to understand the biological significance of SIA. Our examination of the neurotransmitter and neuropeptide systems has revealed that they are affected by the same manipulations that induce SIA. These amines and perhaps peptides play an integral role in learning, motivation, and performance. We conclude that the functional advantage of a reduction of pain during stressful situations is significant because it allows the animal to react in threatening and perhaps critical situations as if there were no pain. Once the pain system is inhibited, other systems modulate and mediate adaptive responses that expedite the survival of the animal. 相似文献
56.
R. S. Verma R. A. Conte M. J. Macera A. S. S. I. Khan S. Hebi A. A. Masoud A. Al Zaman M. Al Bader 《American journal of medical genetics. Part A》1993,46(1):104-108
A newborn infant was referred because of low-set ears, mild downward slant of the palpebral fissues, micrognathia with higharched palate, a flat midface, small mouth, and thin upper lip with cupid bow configuration. To some extent her cry resembled that associated with cri du chat syndrome. Cytogenetic findings with G- and Q-banding alone failed to characterize precisely the complex translocations. By the chromosome in situ suppression (CISS) hybridization technique using whole chromosome specific probes, a complex 4 breakpoint rearrangement involving both arms of a single chromosome 1 with the long arms of chromosome 5 and 11 was disclosed, i.e., 46,XX, der(1),t(1;5) t(1;11) (5qter→5q31::1p31.3→1q44::11q23→11qter;5pter→5q31::1p31.3→1pter;11pter→11q23::1q44→1qter). Gene deregulation and position effect may explain the multiple anomalies in individuals with apparently balanced translocations may shed some light towards unveiling the clinical consequences associated with aberrations which are presumably balanced. © 1993 Wiley-Liss, Inc. 相似文献
57.
The rel-associated pp40 protein prevents DNA binding of Rel and NF-kappa B: relationship with I kappa B beta and regulation by phosphorylation 总被引:71,自引:0,他引:71
L D Kerr J Inoue N Davis E Link P A Baeuerle H R Bose I M Verma 《Genes & development》1991,5(8):1464-1476
The product of proto-oncogene Rel associates with a number of cellular proteins. We have studied the effect of one of them, a phosphoprotein of 40 kD (pp40), on the DNA-binding activity of the Rel protein. We demonstrate that purified pp40 not only inhibits the binding of Rel, but also NF-kappa B (p50-p65) heterocomplex to DNA. Additionally, I kappa B beta, but not I kappa B alpha, also prevented the binding of Rel to the kappa B site. I kappa B beta and pp40 are related proteins because (1) they share a number of common tryptic peptides, (2) their inhibitory effect on DNA binding can be abolished by preincubation with pp40-specific antiserum, and (3) labeled I kappa B beta can be immunoprecipitated with pp40 antibodies. pp40 is part of the Rel complex present in the cytoplasm and nuclear extracts of WEHI-231 cells. The activity of pp40 to inhibit the DNA binding of Rel and NF-kappa B is modulated by phosphorylation. 相似文献
58.
Primary primitive neuroectodermal tumor of the cauda equina 总被引:5,自引:0,他引:5
Primitive neuroectodermal tumors (PNETs) are aggressive neoplasms composed predominantly of undifferentiated cells that show evidence of neural differentiation. Although their classification has been controversial, PNETs are well recognized primary tumors of both central and peripheral nervous systems. PNETs must be distinguished from other round-cell tumors, including Ewing's sarcoma, lymphoma, rhabdomyosarcoma, and small cell carcinoma. Intraspinal PNETs are rare neoplasms that are usually metastatic in origin. We describe the eighth reported primary PNET of the cauda equina that developed in a 52-year-old man with no significant medical history. The tumor was characterized by Homer-Wright rosettes and immunoreactivity for CD99, glial fibrillary acidic protein, neuron-specific enolase S100, and synaptophysin. The anatomic location of primary intrathecal PNETs is important as those arising in the spinal cord develop in the central nervous system, whereas those arising in the cauda equina develop in the peripheral nervous system. The histogenesis of intrathecal PNETs may be multifactorial. 相似文献
59.
60.
Szabo Gyongyi Mandrekar Pranoti Verma Bikash Isaac Ann Catalano Donna 《Journal of clinical immunology》1994,14(6):340-352
The hypothesis that acute ethanol uptake plus trauma can synergize to increase immunosuppression was tested. We found that, unlike non-alcohol-exposed patients, patients with acute alcohol use prior to trauma have a transient decrease in monocyte tumor necrosis factor (TNF) production during the very early postinjury (0–3 days) period. However, TNF production by these alcoholexposed patients' monocytes (MØ) became hyperelevated late postinjury (>9 days). Consequently, these massively elevated MØ TNF levels can contribute to posttrauma immunosuppression after acute alcohol use. We also demonstrate that normal monocyte activation with the superantigen,Staphylococcus enterotoxin B (SEB), results in a preferential induction of cellassociated MØ TNF production, described as characteristic of immunosuppressed trauma patients. Acutein vitro ethanol treatment down-regulated the elevated TNF production by trauma patients' MØ after either SEB, muramyl-dipeptide (MDP), interferon- plus MDP, or lipopolysaccharide (LPS) stimulation. Both SEB- and LPS-induced TNF mRNA induction was inhibited by acute alcohol treatment in normal MØ, indicating that ethanol can regulate cytokine gene expression. An additional immunosuppressive effect of acute ethanol's stimulation was suggested by its induction of elevated transforming growth factor production in trauma patients' activated MØ. 相似文献