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Holoprosencephaly (HPE) is a rare brain abnormality characterized by an incomplete cleavage of the primitive prosencephalon of forebrain during early embryogenesis. To determine the clinical characteristics and outcome of fetuses with HPE, we retrospectively analyzed nine patients who were prenatally diagnosed as fetal HPE by ultrasounds. The mean diagnostic weeks were 20 weeks of gestation. Two cases died within one day after birth. The chromosomal examinations were performed in seven cases (trisomy 18: n = 2; trisomy 13: n = 2; 45,XX,der(18)t(18;21)(p10;p10)mat: n = 1; normal karyotype: n = 2). In our HPE cases, most cases had serious facial anomalies and poor prognosis. Our data suggested that the early prenatal diagnosis of HPE allowed time for parental counseling and delivery planning.  相似文献   
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Ribulose-1,5-bisphosphate carboxylase/oxygenase consists of large subunits (LS) and small subunits. In plants, the LS is encoded in chloroplast DNA and the small subunit, in nuclear DNA. In cyanobacteria, both subunits are thought to be encoded in chromosomal DNA because of prokaryotes. The gene for the LS of ribulose-1,5-bisphosphate carboxylase/oxygenase from a cyanobacterium, Anacystis nidulans 6301, has been cloned in pBR322 and subjected to sequence analysis. The coding region contains 1,416 base pairs (472 codons). The deduced amino acid sequence of A. nidulans LS protein shows 80% homology with sequences of maize, spinach, and tobacco LS proteins; the nucleotide sequence of A. nidulans LS gene shows 70% homology with sequences of the plant genes. Between A. nidulans LS and the plant LS proteins there is exact sequence homology around the lysine residue to which the activator CO2 binds and around the two lysine residues to which ribulose 1,5-bisphosphate binds. The amino acid sequence where the LS binds to the small subunit is also highly conserved. From comparison of the LS proteins of A. nidulans and the three plants, the rate of amino acid substitution is estimated to be 0.25-0.5 × 10-9 per year per site, which is far below the median value of various types of proteins (1.2 × 10-9 for hemoglobin α). The LS protein is thus a conserved protein.  相似文献   
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[Purpose] The difficulty levels of level-2 OSCE (examination and measurement skills) items were examined, with a view to providing reference data for the determination of students’ skills. [Subjects] A total of 284 graduates of physical (PT) and occupational (OT) therapy classes of 2011 (59 and 40), 2012 (46 and 36), and 2013 (61 and 42, respectively) were studied, with PT or OT faculty members as OSCE examiners and a simulated patient. [Methods] Scores for 11 level-2 OSCE items were compared between before and after clinical training. [Results] Scores markedly increased after clinical training. On comparison among the items, scores for sensory examination were the highest, and those for interviews were the lowest. [Conclusion] The results of this study indicate the necessity of considering an appropriate combination of different difficulty levels when adopting OSCE-based educational approaches.Key words: OSCE, Clinical skill, Physical and occupational therapists  相似文献   
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The effects of transjugular intrahepatic portosystemic shunt (TIPS) placement on esophageal motor function and gastroesophageal reflux were investigated in patients with esophageal varices. In six men with esophageal varices, esophageal manometry and upper gastrointestinal endoscopy were performed before and 15–20 days after TIPS placement. Intraesophageal pH monitoring was performed in the four patients with severe esophageal varices (defined as the largest sized varices) following TIPS placement. Findings were compared with those in six healthy men (controls) who underwent esophageal manometry and intraesophageal pH monitoring. The esophageal varices resolved or were reduced after TIPS placement. Resting lower esophageal sphincter (LES) pressures were similar in the study group before and after TIPS placement and in the control subjects. The incidence and progression of esophageal contractions were similar in the study group before and after TIPS placement and in the control subjects. At 3 cm above the LES, the amplitude of esophageal contraction after TIPS placement was significantly higher than that before TIPS placement. At 3 and 8 cm above the LES, the amplitude of esophageal contraction in the control subjects was significantly higher than that in the study group before and after TIPS placement. Esophageal acid exposure time after TIPS placement was similar to that in the controls. TIPS placement is a useful treatment that improves esophageal motor function without the occurrence of pathologic gastroesophageal reflux. (Received May 28, 1997; accepted Sept. 26, 1997)  相似文献   
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Background

Lipid transfer protein (LTP) is a major fruit allergen. It has, however, recently been revealed that the systemic reaction in peach-allergic patients is related not only to LTP (Pru p 3) but also to gibberellin-regulated protein (Pru p 7). We investigated recombinant Pru p 7 (rPru p 7) for its potential use in worldwide standardization for the diagnosis of peach allergy.

Methods

Natural Pru p 7 (nPru p 7) was purified from peach crude extract using a monoclonal antibody affinity column. Complementary DNA for Pru p 7 was cloned and expressed in Escherichia coli and Pichia pastoris. Serum immunoglobulin (Ig) E in peach-allergic patients was examined by enzyme-linked immunosorbent assay (ELISA) using nPru p 7 and rPru p 7 (E. coli product: erPru p 7 and P. pastoris product: prPru p 7).

Results

Peach-allergic patients (n = 27) were diagnosed and categorized into oral reaction (n = 10) or systemic reaction (n = 17). The nPru p 7 positivity based on serum IgE levels was 52% in the systemic-reaction group and 0% in the oral-reaction group (P < 0.05). In the systemic-reaction group, there was no significant difference in reactivity between nPru p 7 and prPru p 7, but the reactivity of erPru p 7 was significantly lower than those of nPru p 7 and prPru p 7 (P < 0.05).

Conclusions

We found that prPru p 7 exhibited reactivity in ELISA comparable to that of nPru p 7 for the diagnosis of peach allergy with systemic reaction.  相似文献   
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