先天性心脏病重度肺动脉高压性质的综合评价

目的探讨先天性心脏病（简称先心病）合并重度肺动脉高压患儿器质性肺动脉高压（简称肺高压）的诊断标准。方法３７例经手术治疗后早期肺动脉压力降至正常的患儿作为动力性肺高压组；７例经手术治疗后仍持续性肺动脉高压及６例临床诊断为器质性肺高压而未予手术的共１３例患儿作为器质性肺高压组，对比两组心导管检查血液动力学指标。结果两组肺血管阻力、肺小动脉楔压、肺循环血流量与体循环血流量之比（Ｑｐ／Ｑｓ）及降主动脉血氧饱和度（ＳａＯ２）差异均有显著意义，如按年龄大于２岁、肺动脉阻力＞７２ｋＰａ·ｓ－１·Ｌ－１（９Ｗｏｏｄ单位）、肺小动脉楔压≤１．６ｋＰａ（１２ｍｍＨｇ）、Ｑｐ／Ｑｓ＜２和动脉血氧饱和度＜０．９０作为临床诊断器质性肺高压的指标，则本组动力性肺高压组仅有５．４％的患儿符合上述指标３项或３项以上，而器质性肺高压组所有病例均符合上述指标３项或３项以上。结论先心病合并重度肺动脉高压存在上述５项指标中３项或３项以上，高度提示患儿存在器质性肺动脉高压     

三氧化二砷对神经母细胞瘤细胞增殖的影响

目的探讨三氧化二砷（Ａｓ２Ｏ３）对儿童神经母细胞瘤有无潜在的治疗价值及伍用细胞因子有无增强疗效的作用。方法应用四甲基偶氮唑蓝法于体外观察Ａｓ２Ｏ３对神经母细胞瘤细胞株ＳＪ－Ｎ－ＳＨ增殖的影响；并观察Ａｓ２Ｏ３伍用重组人γ－干扰素、肿瘤坏死因子、白细胞介素４、６、１０后的情况。结果０．５～４μｍｏｌ／Ｌ的三氧化二砷明显抑制ＳＪ－Ｎ－ＳＨ细胞的增殖，Ａｓ２Ｏ３伍用γ－干扰素、白细胞介素４可明显增强Ａｓ２Ｏ３对ＳＪ－Ｎ－ＳＨ细胞增殖的抑制，而其他几种细胞因子无明显作用。结论Ａｓ２Ｏ３为治疗神经母细胞瘤的有效药物，联合应用合适的细胞因子可增强Ａｓ２Ｏ３的疗效。     

癫痫儿童生活质量的研究

目的研究癫痫儿童的生活质量。方法应用美国癫痫生活质量量表，对１９２例癫痫儿童进行生活质量的评估，探讨影响因素并与正常儿童进行比较。结果癫痫儿童的生活质量明显低于正常儿童，主要表现在对发作的恐惧、长期用药的担忧、认知功能的障碍及社会交往的困难。即使发作已被控制，其生活质量并无明显改善。生活质量高低因发作类型不同而各异。结论对癫痫儿童应加强综合治疗，特别要进行心理干预，才能提高其生活质量。     

Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan

Recent molecular cytogenetic studies have elucidated the origin and nature of extra structurally abnormal chromosomes (ESACs) or small supernumerary chromosomes, which are often associated with developmental delay and malformations. We studied the prevalence of inv dup(15) in a nationwide screening programme for mentally retarded children in Taiwan and tried to correlate the genotype and phenotype in those patients. Fluorescence in situ hybridization (FISH) analysis using D15Z, D15Z1, and the cosmids from the Prader-Willi/Angelman syndrome chromosome region (PW/ASCR) was performed on 54 patients (0.45%) with ESACs from 11893 probands within a 5-year period. Of them, inv dup(15) was confirmed in 25 children (46.3%) by FISH analysis. The PW/ASCR probes were used to clarify the size and DNA composition of the markers. Patients with inv dup(15) chromosomes, containing only the heterochromatin or little euchromatin of the proximal 15q (i.e., pter→q11:q11→pter) may have a rather mild or nearly normal phenotype (group 1). Only one patient had some features suggestive of Angelman syndrome, but was considered to be a result of deleted (15)(q12) in the chromosome 15 homologue. Additional copies within D15S11 through GABRB3 (15q11.2-13) resulted in an abnormal phenotype which involved mental and developmental delay but was different from the classical phenotype of PW/AS (groups 2, 3). Signs of autistic behavior did occur in each group. FISH combined with microsatellite analyses showed that the marker was often of maternal origin in de novo cases (n = 12, 86%), or inherited from the mother in only one familial case. Down-inv dup(15) was mentioned in two cases. Unusual features including diaphragmatic eventration, hyperlaxity of joints, arachnodactyly, brain atrophy, epilepsy (particularly infantile spasm), ataxia, genital abnormalities, and cleft lip/palate were noted in those patients. This observation expands the range of phenotypic expression associated with this relatively common ESAC. Conclusion Marked phenotypic diversities exist in children with inv dup(15), dependent upon the size or genetic composition of the markers, degree of mosaicism, parental origin and familial occurrence or not. Patients with a larger inv dup(15) marker chromosome including the PW/ASCR may have a higher risk of abnormalities, but not the typical Prade-Willi/Angelman syndrome phenotype. Received: 11 February 1997 and in revised form: 20 May 1997 / Accepted: 20 May 1997     

上颌骨掀翻复位术在良性涉颅鼻腔鼻窦肿瘤中的应用

目的探讨涉颅良性鼻腔、鼻窦肿瘤的手术治疗方法。方法报道６例鼻腔、鼻窦良性肿瘤侵及颅底的病例，其中骨化纤维瘤３例，骨瘤１例，骨软骨瘤１例，骨巨细胞瘤（Ｉ～Ｉ级）１例，均采用１侧上颌骨掀翻复位术及颅面联合进路手术切除肿瘤，全部切除肿瘤４例，近次全切除２例。结果无手术并发症，术后随访２～３年，５例无异常，１例骨化纤维瘤术后２年复发。结论上颌骨掀翻术是一种较好的治疗涉颅良性鼻腔、鼻窦肿瘤的手术方法。     

Evaluation of the effectiveness of preoperative embolization in surgery for nasopharyngeal angiofibroma

We retrospectively analyzed the clinical data of 21 patients (22 procedures) with histologically proven nasopharyngeal angiofibromas. Eleven patients underwent preoperative intra-arterial digital subtraction angiography (IADSA) and embolization with Gelfoam. Embolization reduced the intraoperative blood loss from an average of 1136 ml in the non-embolized patients to 677 ml in the embolized cases (P < 0.05) and transfusions from an average of 836 ml to 400 ml (P < 0.01). Results again show that preoperative embolization is effective in reducing intraoperative blood loss. Received: 10 May 1997 / Accepted: 21 October 1997     

Genotypic analysis of tumor suppressor genes PTEN/MMAC1 and p53 in head and neck squamous cell carcinomas

Objectives: Tumor suppressor gene mutations in both p53 and PTEN/MMAC1 genomic DNA have been detected in many types of cancer. The purpose of this study was to investigate the presence and importance of PTEN/MMAC1 mutations in squamous cell carcinomas. Methods: Exons of each gene were amplified after polymerase chain reaction (PCR) using genomic DNA derived from cell lines of squamous cell carcinoma of the head and neck (SCCHN) and snap-frozen biopsy specimens from primary established head and neck tumors. The amplified and purified DNA was then sequenced directly. Result: As anticipated, point mutations of the p53 gene were found in 80% of cell lines examined. A single base mutation in codon 151 was found in six of 10 cell lines studied. PTEN/MMAC1 gene mutations were found in neither the cell lines tested nor the tumor biopsy samples. Conclusion: This study, as well as a large volume of data, confirms that mutations of the p53 gene are frequent events in head and neck cancer cell lines. Although PTEN/MMAC1 gene mutations have been found in a variety of carcinomas, this gene was not found to be mutated in SCCHN cell lines or in primary squamous cell carcinomas of the head and neck. This information is useful for further studies of mutations in these cell lines. Laryngoscope, 108:1553–1556, 1998     

Analyses of mutation and loss of heterozygosity of coding sequences of the entire transforming growth factor beta type II receptor gene in sporadic human gastric cancer

Mutations in the transforming growth factor beta type II receptor (TGFbetaRII) gene have been detected in several human cancer types exhibiting microsatellite instability. Using intron primers previously reported for examination of the entire coding region of the TGFbetaRII gene, 29 sporadic gastric cancers were screened with non-radioactive single strand conformation polymorphism and subsequent DNA sequencing analysis. Mutations of the TGFbetaRII gene were detected in three out of 29 tumors (10%). Two cases showed deletions in a polyadenine tract in both alleles and was positively associated with replication error. One case had an insertion of GA dinucleotide sequence in one allele. Mutations of the TGFbetaRII gene were restricted to exon 3 and other coding regions were not affected. Loss of heterozygosity was detected by analyzing a polymorphic site in intron 2. Three out of nine (33%) informative cases, which were all of intestinal type and advanced cases, showed loss of heterozygosity but neither TGFbetaRII mutation nor replication error was found in these cases. Immunoreactivity of TGFbetaRII in tumor tissues was reduced to a different extent in the gastric cancer with genetically abnormal transforming growth factor. Although the numbers studied are small, homozygous (A)10 deletion or loss of heterozygosity of TGFbetaRII is involved in tumorigenesis and progression of at least some part of sporadic gastric cancer.      

RER phenotype and its associated mutations in familial gastric cancer

To clarify the genetic background of gastric cancer, we collected 28 familial gastric cancers (FGCs) with reference to the Amsterdam criteria in hereditary non-polyposis colorectal cancer (HNPCC) and investigated the frequency of replication error (RER) at six microsatellite loci and frameshift mutations in its related genes in these tumors. RER was detected in seven (25%) of the 28 gastric cancers. Five (18%) cases showed RER at more than two loci. The apparent increased incidence of RER in FGC was not detected compared with that reported in sporadic gastric cancers previously. Among four cases with RER at more than three loci, frameshift mutations in the (A)8 track of the hMSH3 gene were detected in all the four cases and mutations in the (A)10 track of the transforming growth factor-beta type II receptor (TGF-beta RII) gene were detected in the three of them. Histologically, three of the four cases were of the intestinal type, and the other one was the diffuse type. No mutation was detected in the (C)8 and (GT)3 tracks of the hMSH6 and TGF-beta RII genes respectively. These results indicate that the acquisition of the RER phenotype equally influences the gastric carcinogenesis of both sporadic and familial cases, and that the majority of FGC is pathogenetically distinct from HNPCC.      

骨转移瘤的放射治疗

目的探讨关于骨转移瘤常规分割放疗组与低分割放疗组的止痛效果。方法４８例病人，２８例采用常规分割，ＤＴ２００ＣＧＹ／次，每周５次，ＤＴ３０００～５０００ＣＧＹ；２０例采用低分割照射，ＤＴ４００～５００ＣＧＹ／次，每周２～３次，ＤＴ２５００～３０００ＣＧＹ。结果放疗起到了明显的止痛作用，常规分割放疗组与低分割放疗组止痛效果大致相同，无统计学意义（Ｐ＞０．０５）。结论放疗原则应根据病情及预计生存期长短来决定。对一般情况好，预计生存期长的病人应采取积极的治疗，给予大剂量长疗程的常规分割，而对于那些病情相对较重，行动又不方便，无望长期生存的病人，应采取低分割照射，且见效快，同样起到止痛作用