目的 探讨6野切线射野方式调强放疗(6F-IMRT)用于左侧乳腺癌根治术后放疗的临床价值。方法 纳入我院70例左侧乳腺癌根治术患者为研究对象,进行模拟CT增强扫描,三维重建后勾画大体靶区,分别对每个患者靶区设计4F-IMRT、5F-IMRT、6F-IMRT三种治疗计划,规定计划靶区(PTV)达到95%的处方剂量前提下,分析三种治疗计划PTV所受照射的平均剂量、最大剂量、最小剂量,95%、100%等剂量线包绕的靶区体积(V₉₅、V₁₀₀),适形度指数(CI)及剂量不均匀指数(HI),并比较三种计划下心脏、双肺、右乳受照射剂量。结果 各治疗计划靶区最大剂量、最小剂量、平均剂量比较无统计学意义(P＞0.05)。6F-IMRT的V₉₅、V₁₀₀均高于4F-IMRT、5F-IMRT,差异有统计意义(P＜0.05)。4F-IMRT、5F-IMRT、6F-IMRT的CI呈递增趋势,HI呈递减趋势,各组间比较差异有统计学意义(P＜0.05)。三种放疗计划中心脏的平均剂量、V₃₀,双肺的平均剂量、V₂₀、右乳平均剂量比较无显著差异(P＞0.05)。三种放疗计划中,4F-IMRT右乳V₁₀显著低于5F-IMRT、6F-IMRT,差异有统计学意义(P＜0.05),但均在最大耐受剂量范围内。结论 与4F-IMRT、5F-IMRT相比,6F-IMRT用于左侧乳腺癌根治术后放疗有明显剂量学优势,可提高靶区照射剂量,靶区适形程度及剂量均匀性均较好,而且并不会增加周围正常器官照射剂量。

目的 探讨原发性肉碱缺乏症的诊断与治疗方案,对2例原发性肉碱缺乏症患儿及其家系行SLC22A5基因检测,确定基因突变位点,为家系提供遗传疾病的咨询。方法 用串联质谱技术对1例疑似患儿进行游离肉碱及多种酰基肉碱检测,对游离肉碱降低的患儿行SLC22A5基因突变检测,确诊PCD,对其姐姐行上述检查。对2例确诊PCD患儿补充左旋肉碱治疗,随访11个月。并对其家系行SLC22A5基因检测。结果 2例确诊PCD患儿,1例为临床患儿,另1例为其姐姐,无明显临床表现。2例患儿均检测到基因突变。2例患儿血游离肉碱水平低于参考值,伴多种酰基肉碱显著降低,均给予补充左旋肉碱治疗,1例治疗2月后症状改善,另1例未曾未发病,血游离肉碱及其他酰基肉碱水平上升至正常。2例患儿SLC22A5 c.760C>T,(p.Arg254X)纯合,致病突变;患儿父母亲SLC22A5基因的c.760C位点检测,发现:均携带c.760C>T,(p.Arg254X)杂合突变。结论 应用串联质谱技术检测血游离肉碱、多种酰基肉碱水平及SLA22A5基因突变检测诊断了2例PCD,均补充左旋肉碱取得较好疗效。SLC22A5基因c.760C>T,(p.Arg254X)突变是本家系中患有PCD的致病突变,用错义突变和剪切改变的分析手段对SLC22A5基因的外显子编码区进行直接测序可为PCD家系提供遗传咨询。

Objective To explore the diagnosis and treatment of primary carnitine deficiency. To identify potential mutation of SLC22A5 gene in two children affected with primary carnitine deficiency and provide genetic counseling. Methods We measured the free camitine(Co)and acylcamitine levels in a suspected clinical inherited metabolic diseases by tandem mass spectrometry. The SLC22A5 gene mutations were tested to the children with low Co level and the diagnosis was made. Then, We measured the free camitine(Co)and acylcamitine levels and SLC22A5 gene mutations in her sister. The children with PCD were treated with carnitine and followed up for 11 months. The SLC22A5 gene was detected in their family. Results In two children affected with PCD, 1 case was clinical children, another case of their sister was no obvious clinical manifestations. Mutations were found in all of them.The average C0 level in patients was lower than the reference value,along with decreased level of different acylcamitines. Two cases were treated with earnitine. Their clinical symptoms reduced 2 months later. Another case had not been sick. The CO level and different acylcamitines level in the blood rose to normal. A homozygous mutation C. 760C>T (P. Arg254X)of the SLC22A5 gene was detected in the two cases.Heterozygous mutation C. 760C>T (P.Arg254X) was also found in other family members. Conclusion Two patients were diagnosed with PCD by the test levels of free carnitine and acylcarnitines in blood with tandem mass spectrometry,and gene mutation test. L-carnitine supplement had a good effect in treatment of the PCD patients.C.760C> T (P.Arg254X) mutations of the SLC22A5 gene is the deleterious mutations for PCD families, The analysis method of the wrong mutagenesis and shear changes which is used to directly sequence the exons codes of the SLC22A5 gene can provide genetic counseling for PCD families.