Severe form of Freeman-Sheldon syndrome associated with brain anomalies and hearing loss

We describe a child with whistling face and multiple contractures, including ulnar deviation of fingers, compatible with a diagnosis of Freeman-Sheldon syndrome (FSS). This patient also presented severe hypertonicity, multiple episodes of pneumonia, difficulty in swallowing, and poor weight gain, which are characteristic of the most severe cases of FSS. A brain CT scan showed cerebellar and brainstem atrophy. Auditory brainstem responses were absent. The child died at 5 months of respiratory failure. This case suggests the possibility that, especially in the most severe forms, brain abnormalities may be responsible for some of the clinical manifestations of this syndrome, i.e., respiratory problems, difficulty in swallowing and severe hypertonicity. We assume that there is more than one pathogenetic mechanism (muscular, skeletal, and neurological) underlying FSS, which, together with the genetic heterogeneity and the wide range of clinical symptoms leads us to suggest that it is more appropriate to speak of a Freeman-Sheldon spectrum rather than syndrome and that thorough investigation for CNS and auditory abnormalities should be part of the initial work-up of these patients. © 1996 Wiley-Liss, Inc.     

Central precocious puberty in Klinefelter syndrome: A case report with longitudinal follow-up of growth pattern

We report idiopathic central precocious puberty in a boy with Klinefelter syndrome and describe the pattern of linear growth and body proportion from the onset of precocious puberty to final height. The patient was not treated for precocious puberty. He reached adequate adult height, for both general population and normative values of Klinefelter syndrome and normal body proportions. We conclude that precocious puberty in Klinefelter syndrome may result in normal body proportion by inducing a major growth spurt of the trunk rather than in the limbs, and that adult height prognosis is not altered by precocious puberty. Given the possible occurrence of precocious puberty in Klinefelter syndrome, we advise a karyotype analysis in boys with sexual precocity, mainly in those who show small rather than enlarged testes. © 1996 Wiley-Liss, Inc.     

Neuroimaging findings of linear scleroderma of the head and face: a case report

Linear scleroderma of the head and face is a rare connective tissue disorder characterized by linear depressed scarring in the frontoparietal area of the face. Here, we report a patient with linear scleroderma of the head and face with neurological symptoms such as spontaneous epilepsy and numbness of the right limb as well as the presence of white matter lesions. The patient underwent computed tomography and 3.0-T magnetic resonance examinations including diffusion weighted imaging, diffusion tensor imaging, and perfusion imaging. The imaging findings suggested a disrupted fiber tract and decreased relative cerebral blood flow. Our observation may help to improve the diagnosis and treatment of linear scleroderma of the head and face.     

乳腺导管内癌:附123例(125侧)报告

目的 加深对导管内癌(DCIS)的认识,以提高其诊断率和治疗效果.方法 回顾性分析中国医科大学附属第一医院普通外科收治的123例DCIS患者的临床资料.包括发病年龄、临床表现、体检特征、超声和钼靶检查、病理特点、免疫组织化学检查和手术方式.结果 (1)该组发病的平均年龄为(47.7±9.3)岁.(2)体检特点以乳腺肿块79例,乳头溢液19例,乳房疼痛伴腺体增厚30例等为主要表现.(3)超声、钼靶45例,可能为恶性者分别为27例(60%),30例(66.7%),方法准确率差异无统计学意义.综合2种方法后,诊断可能恶性者37例(82.2%).(4)65例超声表现为实质性肿见块43例(66%);血流信号41例(63%);可见导管扩张52例(80%)和导管内点状强光团33例(50.7%).(5)52例钼靶摄影主要表现有泥沙样钙化,肿物伴簇状钙化,腺体局限性致密和乳腺肿物.(6)免疫组织化学检查包括雌激素受体(ER),孕激素受体(PR),p53和c-erbB-2.DCIS与DCISMI的阳性表达率差异均无统计学意义.(7)行乳腺癌标准根治术6例(其中3例为DCIS-MI).共行乳腺癌改良根治术86例,包括59例DCIS,27例DCIS-MI.DCIS伴有淋巴结转移者2例,DCIS-MI有淋巴结转移者5例.结论 乳腺超声检查和钼靶摄像联合诊断可提高DCIS的诊断率.     

乳腺癌中MTA1，ER的表达及其相关性研究

目的 观察MTA1,ER在乳腺癌中的表达,探讨两者与乳腺癌侵袭能力的相关性.方法 应用原位核酸分子杂交和免疫组织化学分别检测正常乳腺组织、癌前病变组织及乳腺癌组织中MTA1,ER的表达;并以Spearman等级相关分析它们的相关性.结果 在正常乳腺组织、癌前病变组织、乳腺癌组织中,原位杂交对MTA1,ER的阳性检出率高于免疫组化,原位杂交检测中MTA1 mRNA的表达率分别为12.2%,33.3%,81.1%;免疫组化检测中MTA1的表达率分别为11.1%,31.1%,72.2%;原位杂交检测中ER mRNA的表达率分别为83.3%.61.1%,37.8%,免疫组化检测中ER的表达率分别为70.9%,56.7%和35.6%.MTA1在ER阴性组中的阳性表达率为86.2%,高于阳性组中的46.9%.结论 原位杂交和免疫组化联合检测增加MTA1,ER基因的检出率;随疾病的进展和肿瘤分化程度的降低,MTA1表达逐渐增强,ER表达逐渐减弱,甚至丧失.MTA1与ER表达呈负相关(r=-0.466,P＜0.01).提示MTA1,ER可作为乳腺癌预后及治疗重要的分子标记物.     

Fascin1基因表达对胃癌细胞系MKN45增殖与凋亡的影响

目的：探讨fascin1基因表达对胃癌细胞系MKN45增殖与凋亡的影响及其意义。方法：利用RNA interference(RNAi)技术稳定沉默fascin1基因的表达,Western blotting及RT-PCR检测干扰效率,用MTT比色法和平板克隆形成实验检测转染前后细胞体外增殖能力,用流式细胞术（FCM）及Hochest33258荧光染色法检测细胞凋亡的变化。结果：在稳定转染fascin1干扰质粒后,胃癌细胞系MKN45的fascin1表达明显下降;与未转染组和空白质粒转染组相比,fascin1干扰质粒转染组的增殖能力明显降低,但细胞凋亡变化不明显。结论：fascin1的表达与胃癌细胞系MKN45的增殖有关,而与凋亡无明显相关。     

肝移植治疗原发性肝癌的存活率及预后因素分析

目的：探讨肝移植治疗肝细胞型肝癌的术后存活率及其影响因素。方法：回顾分析8年来89例接受肝移植治疗且随访时间≥6 个月的肝细胞型肝癌患者的临床资料。计算患者术后1,2,3年生存率,并通过单因素和多因素分析寻找影响存活率的影响因素。结果：89例患者肝移植术后1,2,3年存活率分别为91.2%,68.5%,59.4%;单因素分析显示,肿瘤最大径、门静脉癌栓、肿瘤分化程度和肿瘤TNM 分期是影响存活率的重要因素;Cox 风险模型多因素分析显示,肿瘤最大径、肿瘤分化程度和肿瘤TNM 分期均是影响存活率的独立危险因素。结论：肝移植是目前治疗肝细胞型肝癌的有效方法;肿瘤最大径>5 cm、肿瘤分化程度差和肿瘤TNM分期高均会严重影响患者的存活率。