双白蛋白血症一家系10年追踪调查分析

目的 为探讨双白蛋白血症与恶性疾病之间的关系。方法采用家系调查、蛋白电泳分析和资料检索查新等方法，对一个双白蛋白血症家族进行了10年追踪研究。结果 该家系直系三代查出7／14例双白蛋白阳性，其中2例死于恶性伴发病：1例伴MM；1例伴肝癌。资料检索发现国内从1976年至今正式发表的研究文章有十四篇17个家系，其中有四位研究者在不同地域先后检出4例双白蛋白血症者均伴发恶性血液病：2例同伴MM；2例同伴白血病。结论 提示双白蛋白血症与恶性疾病(恶性血液病)的发生有密切关系。     

遗传性双白蛋白血症一家系初步调查分析

目的探讨分析双白蛋白的遗传特点类型及与疾病的关系。方法采用蛋白电泳分析、家系调查分析等方法,对双白蛋白血症家族进行了初步调查分析。结果遗传性双白蛋白血症群体发病频率为1/3043,直系三代发病率61.54%(8/13),且连续传递。结论该家系双白蛋白血症符合常染色体显性遗传病,为慢泳率型(As),可能与感染有关,是否与原发性高血压、糖尿病、某些血液病有关,需进一步积累资料。     

双白蛋白血症一例家系调查分析及其基因表达特征

Knedel首先发现双白蛋白血症（Bisalbuminemia）者的血清经电泳后可分离出2条白蛋白区带。其遗传方式由常染色体的1对等位基因控制，并在白蛋白合成中有相同作用；当1个等位基发生遗传变异时，可产生2种白蛋白（杂合子），若1对等位基因同时发生变异，可产生单一异型蛋白（纯合子）。本院于2006年1月发现1例双白蛋白血症患者，通过追访调查确定为双白蛋白血症家系，且先证者出现明显临床症状。     

双白蛋白血症一例报告及其家系初步调查

双白蛋白血症是人血清在碱性缓冲液中电泳后存在有两个白蛋白成分,其中一个成分的电泳迁移率比正常白蛋白较快或较慢,并以此分为3种类型:1.持续慢速型,2.持续快速型,3.暂时快速型。前两种是遗传性异常双白蛋白血症,为常染色体显性遗传。本症在人群中较罕见。1986年9月我们发现1例持续慢速型双白蛋白血症,并作了家系调查,报告如下。     

遗传性双白蛋白血症一家系的调查分析

目的 探讨分析1例遗传性双白蛋白血症的类型与临床关系.方法 用家系调查、全自动电泳系统等方法,一家系中4例双白蛋白血症患者进行检测分析.结果 遗传性双白蛋白血症群体发病频率为1/8863,病例后代发病率为57％(4/7),符合染色体显性遗传.4例患者双白蛋白血症类型均属As型(慢泳率).结论 该例双白蛋白血症为遗传性双白蛋白慢泳率型.     

双白蛋白血症一家族报告

双白蛋白血症是一种家族性血清白蛋白的异常现象，它与遗传有关。国内外曾有一些报道，我院多年来只发现一例，笔者进行了其家系调查，现报告如下：1病例资料患者于素勤，女性，28岁，浙江人，以乙型肝炎、表面抗原阳性收住我院传染科。蛋白电泳发现双白蛋白阳性。其父于淙理，59岁，母亲周进花，57岁，其妹于素珍，26岁，外甥女徐妮娜，4岁，其弟已死亡。家系调查结果如图。2实验方法取患者血清用醋酸纤维薄膜蛋白电泳发现在白蛋白位置出现双峰形白蛋白区带，经查阅有关文献”’，认为这是异常的双白蛋白，同时与正常人血清白蛋白电泳对照…     

伴复杂核型异常的髓系恶性血液病8号染色体异常分析

为研究伴复杂核型异常（complex chromosome abnormalities，CCA）的髓系恶性血液病的8号染色体异常，采用常规染色体分析和多重荧光原位杂交技术检测81例伴CCA的髓系恶性血液病患者的染色体异常，其中急性髓系白血病（AML）25例、慢性髓系白血病（CML）35例和骨髓增生异常综合征（MDS）21例。结果表明：81例标本中CCA涉及所有染色体，而8号染色体异常发生率为35．8％（29／81），其中AML为56％（14／25）、CML为28．6％（10／35）、MDS为23．8％（5／21），CML加速期、急变期发生率分别为20％（1／5）、33．3％（9／27）。29例伴8号染色体异常的髓系恶性血液病中有15例为非平衡易位，占51．7％。结论：8号染色体异常是伴CCA的髓系恶性血液病中常见的染色体异常，可能与疾病进展相关，多为不平衡性易位。     

十二指肠球后狭窄46例分析

十二指肠球后狭窄临床报道较少；本院1992年10月至2006年10月治疗十二指肠球后狭窄患者46例，疗效满意，报告如下。 1资料与方法 1．1一般资料 46例患者，男35例，女11例；年龄19～82岁，平均39．2岁。所有患者均有不同程度的腹胀、腹痛、呕吐症状，进食后症状加重，其中伴呕血1例；伴黑便或大便潜血强阳性10例；伴黄疸7例；伴低热4例、中等热2例；伴有消瘦、低蛋白血症及贫血5例。[第一段]     

多发性骨髓瘤的诊断探讨

多发性骨髓瘤（MM）又名浆细胞骨髓瘤[1]，是临床较常见的恶性血液病，也是容易发生误诊的疾病之一。为提高认识，现报道我院有完整病历记载的24例MM患者，结合文献分析讨论。豆！临床资料1．1一般资料我院自1980年1月一1999年1月期间共收治MM24例，男20例，女4例，男女比为6：l。年龄40－68岁，平均年龄SO．8岁。确诊前病程已超过3月一18月不等。平均生存时间3．sa。1．2临床表现起病较慢，首发症状：骨痛18例（7％），主要在胸、腰椎及肋骨等。纳差ZO例（83．3％），浮肿12例（SO．O％），粘膜出血6例（25．0％），反复咳嗽2例（8．…     

双白蛋白实验室检查的进展

1955年Scheurlen 首先报告用pH7.8纸电泳发现分开的两条白蛋白区带,随后,Knedel 报告了一个家系发生这种类型的双白蛋白,Wieme 描述了第二个家系,Tarnoky 报告了第三个家系双白蛋白血症。以后陆续有一些报告。国内奚为乎及杨忠义先后报道了五个家系双白蛋白血症。     

Four cases of fast-type bisalbuminemia in an irish population

Four cases of bisalbuminemia detected during routine electrophoresis on cellulose acetate have been investigated. Available members of the families have also been studied. The variant albumins which are all of the fast type were found to possess the same properties in terms of electrophoretic mobility, dyebinding, thyroxine binding, temperature stability and immunochemical reactivity.     

Fibronectin receptor on polymorphonuclear leukocytes in families of Ehlers-Danlos syndrome and other hereditary connective tissue diseases

Studies were made on the fibronectin receptor on polymorphonuclear leukocytes of patients with hereditary connective tissue diseases and of healthy members of their families. In four patients with Ehlers-Danlos syndrome type II (family E) and type VI (family M), the maximum number of binding sites (Bmax) of fibronectin receptor was significantly decreased to 2.2 to 2.9 x 10(3) sites/cell (normal range 6.3 +/- 1.5 x 10(3) sites/cell). The Bmax values of healthy members of their families were normal or moderately decreased to 3.8 to 5.1 x 10(3) sites/cell. In a patient with osteogenesis imperfecta type III (family K) the Bmax was significantly decreased to 1.1 x 10(3) sites/cell, but healthy members of his family had normal Bmax values. In a patient with Marfan syndrome (family A) the Bmax was decreased to 4.3 x 10(3) sites/cell. The dissociation constant of the fibronectin receptor was normal in all subjects examined. Some healthy members of the families of the patients with Ehlers-Danlos syndrome had moderately decreased Bmax values, suggesting that they are carriers of an abnormal gene causing this disorder. These data suggest that fibronectin receptor is closely related to the pathogenesis of hereditary connective tissue diseases.     

遗传性双白蛋白血症四例先证患者分析

目的 探讨分析4例遗传性双白蛋白血症的类型与临床关系及其双白蛋白分子结构特点。方法 用家系调查、全自动电泳系统和氨基酸测序等方法，对4例遗传性双白蛋白血症患者及一家系中18例双白蛋白血症患者进行检测分析。结果 遗传性双白蛋白血症群体发病频率为1／6050，病例4后代发病率为46％（18／39），符合染色体显性遗传。4例患者双白蛋白血症类型均属As型（慢泳率），N-端氨基酸分析排除最常见慢泳率型的基因型白蛋白原突变。结论 4例遗传性双白蛋白血症均为双白蛋白非白蛋白原突变所致的慢泳率型，各病例间未见明显一致的临床表现。     

Families and hospitalized elders: A typology of family care actions

The extensive care provided by families to their elderly relatives in the home is well documented. Although family caregiving is likely to be continued during hospitalization of elderly relatives, limited research has been conducted to address the nature of family care for hospitalized elders. The main purpose of this qualitative study was to refine the content domain of family care for hospitalized elders. Altogether 25 interviews were done. Of the 16 participants, 6 were family members, 6 were patients, and 4 were nurses; 7 participants were interviewed once and 9 participants were interviewed twice. Qualitative analysis based on Lofland and Lofland's (1984, 1995) approach resulted in the identification of three major content domains: family members providing care to the patient, working together with the health care team, and taking care of themselves. This typology suggests a shift of research in this area from its current focus on family needs to a view of family caregivers as partners with the health care team.     

Budd-Chiari综合征——两个家系调查

目的探讨Ａ、Ｂ两个家系家族性Ｂｕｄｄ－Ｃｈｉａｒｉ综合征（ＢＣＳ）相关病因。方法对４例ＢＣＳ光证及其家系成员进行血管造影、超声波检查、病因调查及因子Ｖ Ｌｅｉｄｅｎ（ＦＶ：Ｑ＾５０６）突变分析。结果４例ＢＣＳ先证的诊断经血管造影证实。超声波检查ＡⅢ１１,１６诊断为ＢＣＳ。Ａ家系１０名成员有下肢静脉曲张。６例ＢＣＳ中,４例（ＡⅢ７,１１,１５,ＢⅡ１０）ＦＶ Ｌｅｉｄｅｎ突变阳性。两家系成员中,     

Opinions of families,staff, and patients about family participation in care in intensive care units

PurposeThe aims of the study were to assess opinions of caregivers, families, and patients about involvement of families in the care of intensive care unit (ICU) patients; to evaluate the prevalence of symptoms of anxiety and depression in family members; and to measure family satisfaction with care.Materials and MethodsBetween days 3 and 5, perceptions by families and ICU staff of family involvement in care were collected prospectively at a single center. Family members completed the Hospital Anxiety and Depression Scale (HADS) and a satisfaction scale (Critical Care Family Needs Inventory). Nurses recorded care provided spontaneously by families. Characteristics of patient-relative pairs (n = 101) and ICU staff (n = 45) were collected. Patients described their perceptions of family participation in care during a telephone interview, 206 ± 147 days after hospital discharge.ResultsThe numbers of patient-relative pairs for whom ICU staff reported favorable perceptions were 101 (100%) of 101 for physicians, 91 (90%) for nurses, and 95 (94%) for nursing assistants. Only 4 (3.9%) of 101 families refused participation in care. Only 14 (13.8%) of 101 families provided care spontaneously. The HADS score showed symptoms of anxiety in 58 (58.5%) of 99 and of depression in 26 (26.2%) of 99 family members. The satisfaction score was high (11.0 ± 1.25). Among patients, 34 (77.2%) of 44 had a favorable perception of family participation in care.ConclusionsFamilies and ICU staff were very supportive of family participation in care. Most patients were also favorable to care by family members.     

Fibroblast growth factor receptor 3 inhibition by short hairpin RNAs leads to apoptosis in multiple myeloma

The presence of t(4;14)(p16.3;q32.3) in multiple myeloma cells results in dysregulated expression of the fibroblast growth factor receptor 3 (FGFR3). FGFR3 acts as an oncogene to promote multiple myeloma cell proliferation and antiapoptosis. These encourage the clinical development of FGFR3-specific inhibitors. Three short hairpin RNAs (shRNA) targeting different sites of FGFR3 were selected and subsequently transfected into KMS-11, OPM-2, and NCI-H929 human myeloma cell lines, all of which are characterized by t(4;14) and FGFR3 over expression. The combination of these three shRNAs can effectively inhibit FGFR3 expression in all three cell lines. Sequential immunocytochemistry/fluorescence in situ hybridization was employed to validate that the shRNAs specifically inhibited FGFR3 expression in OPM-2 cells. Decreased expression of B-cell chronic lymphocytic leukemia/lymphoma 2 (BCL2) and myeloid cell leukemia sequence 1 (MCL1) proteins and increased staining of Annexin V-positive cells showed that inhibition of FGFR3 induces apoptosis. After confirming down-regulation of FGFR3 by real-time PCR, HU-133 plus 2.0 array was employed to compare the gene expression profile of shRNA-treated sample with that of the control. Besides the down-regulation of FGFR3, expression of the antiapoptotic genes CFLAR, BCL2, MCL1, and some members of NF-kappaB family decreased, whereas expression of the proapoptotic genes CYC, BID, CASP2, and CASP6 increased. Microarray results also revealed changes in genes previously implicated in multiple myeloma pathogenesis (RAS, RAF, IL-6R, and VEGF), as well as others (TLR4, KLF4, and GADD45A) not previously linked to multiple myeloma. Our observations indicate that shRNAs can specifically and effectively inhibit FGFR3 expression. This targeted approach may be worth testing in multiple myeloma patients with t(4;14) and FGFR3 overexpression in the future.     

8个家族性特发性基底节钙化家系的临床特点及遗传规律研究

【目的】探讨8个家族性特发性基底节钙化(FIBGC)家系的临床特点及遗传规律。【方法】收集8个 FIBGC 家系,根据临床表现分为运动受损组和精神症状组,绘制家系图,分析先证者及家系其他患者的发病年龄、临床表现、基底节区钙化的体积,总结遗传规律。【结果】8个家系均呈常染色体显性遗传,先证者的性别比：男/女=4/4;患者的性别比：男/女=18/17,两组先证者人数构成比：运动受损/精神症状=4/4,运动受损组与精神症状组性别比(男/女)无显著性差异[(3/1)vs (1/3),P >0.05]。两组先证者的发病年龄[(43.00±3.16)岁 vs(29.50±6.95)岁]和基底节区钙化的体积[(1.526±0.679)cm3 vs(0.233±0.114)cm3]比较差异具有统计学意义(P <0.05)。临床特点：患者均表现为一个系统损害的症状,运动系统受损或者精神症状。以运动受损的4个家系其他成员发病的症状也以运动受损为特点,精神症状为主的4个家系仅5人有精神症状,其他成员均没有临床症状。【结论】FIBGC 临床表现具有明显的异质性,以运动受损的患者其病情严重程度与基底节区钙化病灶的大小相关,且发病年龄较晚,家系成员临床症状具有遗传性;以精神症状为主的患者其基底节区钙化病灶小,发病年龄早,家系成员临床症状遗传性不明显。     

影响精神病患者家属疾病知识水平的相关因素调查

目的了解精神病患者家属精神疾病知识水平,分析其影响因素,为有针对性地开展健康教育提供依据。方法采用自行设计的患者家属疾病相关知识调查表对265例门诊和住院患者家属进行调查。结果家属对精神疾病相关知识测评的总体正确回答率为55．6％;在调查的9个知识条目中,患者有哪些精神症状条目的回答正确率最高（89．8％）,患者所服药物的副作用（36．2％）及精神病的病因是什么条目的回答正确率最低（37．0％）。患者为女性、调查时正在住院、诊断为精神分裂症、病程〉24个月、年龄26岁一45岁等临床特征的家属,其疾病知识水平显著高于其他类别患者的家属（P均〈0．05或0．01）;家属为大学以上文化、脑力工作为主／退休工作者、通过医护宣教获得相关知识等临床特征的家属,其疾病知识水平显著高于其他类别的家属（P均〈0．05或0．01）。结论精神病患者家属精神疾病知识水平较低;患者的临床特征和家属自身特征均可影响其知识水平高低,有针对性地对患者家属开展疾病知识的健康教育非常必要。     

Tet2突变与恶性血液病

Tet2（tet癌基因家族成员2）是新发现的骨髓恶性肿瘤患者4q24上的肿瘤抑制基因,有发生功能缺失突变的潜能。最近研究表明,在真性红细胞增多症（polyeythemia vera,PV）、原发性血小板增多症（essential thrombocythemia,ET）、骨髓纤维化（myelofibrosis）、系统性肥大细胞增多症（systemic mastocytosis,SM）和骨髓增生异常综合征（myelodysplastic syndrome,MDS）等骨髓恶性疾病中均可发现tet2突变的存在,但tet2在恶性血液系统疾病中的作用仍需要通过大量的前瞻性研究来探索。本文就tet2突变与骨髓增殖性肿瘤、系统性肥大细胞增生症、骨髓增生异常综合征、急性髓系白血病及其它恶性血液病的关系进行了综述。