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101.
Mutations in three different genes of phosphorylase kinase (Phk) subunits,
PHKA2, PHKB and PHKG2, can give rise to glycogen storage disease of the
liver. The autosomal-recessive, liver-specific variant of Phk deficiency is
caused by mutations in the gene encoding the testis/liver isoform of the
catalytic gamma subunit, PHKG2. To facilitate mutation detection and to
improve our understanding of the molecular evolution of Phk subunit
isoforms, we have determined the structure of the human PHKG2 gene. The
gene extends over 9.5 kilonucleotides and is divided into 10 exons;
positions of introns are highly conserved between PHKG2 and the gene of the
muscle isoform of the gamma subunit, PHKG1. The beginning of intron 2
harbors a highly informative GGT/GT microsatellite repeat, the first
polymorphic marker in the PHKG2 gene at human chromosome 16p11.2-p12.1.
Employing the gene sequence, we have identified homozygous
translation-terminating mutations, 277delC and Arg44ter, in the two
published cases of liver Phk deficiency who developed cirrhosis in
childhood. As liver Phk deficiency is generally a benign condition and
progression to cirrhosis is very rare, this finding suggests that PHKG2
mutations are associated with an increased cirrhosis risk.
相似文献
102.
目的:探讨先天性动脉窦瘤(CASV)的外科治疗方法。方法:对55例动脉窦行外科治疗,其中窦瘤切除修补术22例(40%),窦瘤切除加房、室间事缺损修补25例(42%),窦瘤切除加主动脉成形3例,窦瘤切除修补加主动脉瓣置换5例。结果:全组手术死亡2例,其中1例死于手术后急性肾功衰竭,另1例死于手术后纵隔感染致心脏大出血,余患者均痊愈出院,结论:心脏超声(UCG)具有确诊和手术指导意义。窦瘤的破裂对心功 相似文献
103.
104.
105.
矽宁对肺泡巨噬细胞功能的影响 总被引:1,自引:0,他引:1
矽宁、梯络龙等药物具有明显降低由Zymosan刺激的大鼠肺泡巨噬细胞的耗氧量,抑制其释放超氧离子、过氧化氢及化学发光量。矽宁具有较强的亲合肺巨噬细胞的能力,并有剂量-效应关系。 相似文献
106.
MW Blom PR Bartel DK Sommers CH Van Der Meyden PJ Becker 《Fundamental & clinical pharmacology》1992,6(1):5-9
This study compares the effects of buspirone (5 mg), chlordiazepoxide (5 mg), hydroxyzine (10 mg) and placebo on psychomotor function and EEG, when taken thrice daily for a period of two weeks, with those after a single dose administration. Nine healthy volunteers participated in the study. The battery of psychomotor tests included peak velocity of saccadic eye movements (SEM), a Sternberg memory scanning and choice reaction time test (SMS-CRT) and critical flicker fusion frequency (CFFF). The peak velocity of saccadic eye movements was significantly impaired by the single dose of hydroxyzine (P = 0.03) in comparison to the multidose results. A similar comparison regarding buspirone only approached significance (P = 0.07). The SMS-CRT and CFFF did not reveal any difference between the multi and single dose regimens. Spectral analysis of the EEG did not distinguish between the multi and single dosage schedules regarding the respective drugs in the low doses administered. 相似文献
107.
108.
109.
Strudwick S 《International journal of pediatric otorhinolaryngology》2003,67(Z1):S101-S102
Babies and children with gastro-oesophageal reflux often have significant feeding difficulties. The symptoms of reflux are described, including the higher risk of aspiration. Babies can present with motor and sensory feeding disorders and can quickly develop aversive reactions to the feeding process. This effect can be long term, and speech and language therapists use various techniques to provide babies and young children with positive sensory experiences to reduce the aversion and promote successful oral feeding. Advice on grading the introduction of textures to the child's diet, messy play and advice on communication and interaction will also form part of the feeding plan. The stress on the parents will be discussed. Research shows that a truly collaborative multidisciplinary approach is likely to be the most successful, encompassing the nutritional, medical, psychosocial, and developmental aspects of the child. 相似文献
110.
P-31 MR spectroscopy of normal human brain and brain tumors 总被引:2,自引:0,他引:2
Hubesch B; Sappey-Marinier D; Roth K; Meyerhoff DJ; Matson GB; Weiner MW 《Radiology》1990,174(2):401-409
Image-guided phosphorus-31 magnetic resonance (MR)-localized image-selected in vivo spectroscopy was performed on normal human brain and brain tumors. Peak area ratios, absolute molar concentrations of metabolites, and pH were determined. T1 values in normal brain were measured. The most important finding was that the metabolite concentrations detectable with MR spectroscopy in brain tumors were reduced from 20% to 70%. Phosphomonoesters, phosphodiesters, and phosphocreatine (PCr) showed the greatest decreases, while inorganic phosphate (Pi) showed the least change. The PCr-Pi ratio was significantly reduced in tumors. The pH of brain tumors (7.12 +/- 0.03) was more alkaline than that of normal brain (6.99 +/- 0.01). The authors conclude that the metabolite concentrations and pH in human brain tumors differ significantly from those in normal brain. These differences may be ultimately useful in characterizing tumors in man. 相似文献