Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome

Deletions of the distal short arm of chromosome 1 (1p36) represent a common, newly delineated deletion syndrome, characterized by moderate to severe psychomotor retardation, seizures, growth delay, and dysmorphic features. Previous cytogenetic underascertainment of this chromosomal deletion has made it difficult to characterize the clinical and molecular aspects of the syndrome. Recent advances in cytogenetic technology, particularly FISH, have greatly improved the ability to identify 1p36 deletions and have allowed a clearer definition of the clinical phenotype and molecular characteristics of this syndrome. We have identified 14 patients with chromosome 1p36 deletions and have assessed the frequency of each phenotypic feature and clinical manifestation in the 13 patients with pure 1p36 deletions. The physical extent and parental origin of each deletion were determined by use of FISH probes on cytogenetic preparations and by analysis of polymorphic DNA markers in the patients and their available parents. Clinical examinations revealed that the most common features and medical problems in patients with this deletion syndrome include large anterior fontanelle (100%), motor delay/hypotonia (92%), moderate to severe mental retardation (92%), growth delay (85%), pointed chin (80%), eye/vision problems (75%), seizures (72%), flat nasal bridge (65%), clinodactyly and/or short fifth finger(s) (64%), low-set ear(s) (59%), ear asymmetry (57%), hearing deficits (56%), abusive behavior (56%), thickened ear helices (53%), and deep-set eyes (50%). FISH and DNA polymorphism analysis showed that there is no uniform region of deletion but, rather, a spectrum of different deletion sizes with a common minimal region of deletion overlap.     

关于棉纺织厂总平面布置的探讨

本文阐述了棉纺织厂总平面布置的重要性和目前总平面布置设计中存在的问题,讨论了厂址选择,各专业设计与总平面布置的关系,提出了建筑区城划分及布置的探索性意见和总平面布置应注意的几个问题。     

Distribution of myosin heavy chain isoforms in non-weight-bearing rat soleus muscle fibers

The effects of 14 days of spaceflight (SF) or hindlimb suspension (HS) (Cosmos 2044) on myosin heavy chain (MHC) isoform content of the rat soleus muscle and single muscle fibers were determined. On the basis of electrophoretic analyses, there was a de novo synthesis of type IIx MHC but no change in either type I or IIa MHC isoform proportions after either SF or HS compared with controls. The percentage of fibers containing only type I MHC decreased by 26 and 23%, and the percentage of fibers with multiple MHCs increased from 6% in controls to 32% in HS and 34% in SF rats. Type IIx MHC was always found in combination with another MHC or combination of MHCs; i.e., no fibers contained type IIx MHC exclusively. These data suggest that the expression of the normal complement of MHC isoforms in the adult rat soleus muscle is dependent, in part, on normal weight bearing and that the absence of weight bearing induces a shift toward type IIx MHC protein expression in the preexisting type I and IIa fibers of the soleus.     

Value of reversed saphenous vein in minimally invasive direct coronary artery bypass graft procedures

BACKGROUND: Minimally invasive direct coronary artery bypass graft procedures are gaining acceptance for revision as well as primary coronary revascularization. When suitable, the left and right internal mammary arteries are preferred as bypass conduits; in other cases, the greater saphenous vein, used for standard coronary artery bypass graft procedures, may be useful to revascularize coronary artery branches during minimally invasive direct coronary artery bypass graft procedures. METHODS: We used the greater saphenous vein on three occasions during minimally invasive direct coronary artery bypass graft procedures (1) to revascularize the left anterior descending coronary artery by anastomosis to the left axillary artery in the infraclavicular region, (2) as an extension to the left internal mammary artery to reach the left anterior descending coronary artery, and (3) as a bridge from the splenic artery to bypass the distal right coronary artery. RESULTS: Postoperatively, all 3 patients had relief from symptoms of coronary artery insufficiency and none has been readmitted to the hospital with symptoms. Angiography or thallium studies were not performed to confirm graft patency because all patients were elderly and the risks of these procedures were considered to outweigh their potential benefit. CONCLUSIONS: The greater saphenous vein is a potential bypass conduit for use in minimally invasive direct coronary artery bypass graft procedures as well as for coronary artery bypass graft procedures.