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31.
Anita S. Kulharya Mark Maberry Mary K. Kukolich Donald W. Day Nancy R. Schneider Golder N. Wilson Vijay Tonk 《American journal of medical genetics. Part A》1995,55(2):165-170
We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. © 1995 Wiley-Liss, Inc. 相似文献
32.
Inhibition of p38MAP kinase suppresses fibrotic reaction of retinal pigment epithelial cells 总被引:3,自引:0,他引:3
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The authors examined the role of the ventral tegmental area (VTA) and nucleus accumbens (NAc) in the expression of ethanol-induced conditioned place preference (CPP). After cannulas were implanted, male DBA/2J mice underwent an unbiased Pavlovian-conditioning procedure for ethanol-induced CPP. Before preference testing, the mice were injected intra-VTA (Experiments 1 and 3) or intra-NAc (Experiment 2) with the nonselective opioid antagonist methylnaloxonium (0-ng, 375-ng, or 750-ng total infusion; Experiments 1 and 2) or the gamma aminobutyric acid (GABA(B)) agonist baclofen (0-ng, 25-ng, or 50-ng total infusion; Experiment 3). Intra-VTA methylnaloxonium or baclofen decreased ethanol-induced CPP, whereas intra-NAc methylnaloxonium had no effect. These findings indicate that the conditioned rewarding effect of ethanol is expressed through a VTA-dependent mechanism that involves both opioid and GABA(B) receptors. 相似文献
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Anita Samuelsson MSc Monica Ahlmn MD Marianne Sullivan PhD 《Patient education and counseling》1993,20(2-3):77-91
During the last few years, studies have revealed that the need for psychosocial support and concrete social services are great in the early stages of the treatment of rheumatic diseases. The ability to keep a job, to do household chores, to participate in leisure activities and to maintain social relations is clearly impaired. Anxiety and depression are not unusual and often associated with weak support from relatives, loneliness and disturbed family relations. Nevertheless, the patients report resilience and determination to cope with the impacts of illness. Crisis intervention, vocational guidance and counselling about problems concerning the disease should be available and offered to the patients. As the patients seem to be unaccustomed to talking about their psychosocial problems, an empathetic and information-seeking attitude on the part of the health care staff is essential. 相似文献
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Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3 总被引:4,自引:2,他引:4
Cruts Marc; Backhovens Hubert; Wang Sheng-Yue; Van Gassen Geert; Theuns Jessie; De Jonghe Chris; Wehnert Anita; De Voecht Joke; De Winter Goedele; Cras Patrick; Bruyland Marc; Datson Nicole; Weissenbach Jean; Dunnen Johan T.den; Martin Jean-Jaques; Hendriks Lydia; Van Broeckhoven Christine 《Human molecular genetics》1995,4(12):2363-2371
Genetic linkage studies have indicated that chromosome 14q24.3harbours a major locus for early-onset (onset age <65 years)Alzheimer's disease (AD3). Positional cloning efforts have identifieda novel gene S182 or presenilin 1 as the AD3 gene. We have mappedS182 in the AD3 candidate region between D14S277 and D14S284defined by genetic linkage studies in the two chromosome 14linked, early-onset AD families AD/A and AD/B. We have shownthat S182 is expressed in lymphoblasts and have determined thecomplete cDNA in both brain and lymphoblasts by RT-PCR sequencing.S182 is alternatively spliced in both brain and lymphoblastswithin a putative phosphorylation site located 5' in the codingregion. We identified two novel mutations, Ile143Thr and Gly384Alalocated in, respectively, the second transmembrane domain andin the sixth hydrophilic loop of the putative transmembranestructure of S182. As families AD/A and AD/B have a very similarAD phenotype our observation of two mutations in functionallydifferent domains suggest that onset age and severity of ADmay not be very helpful predictors of the location of putativeS182 mutations. 相似文献
40.
Implications of urine pO2 for renal medullary blood flow 总被引:2,自引:0,他引:2