腹痛,腹胀,恶心,抽风,昏迷

病历摘要:患者,男,60岁,因上腹痛、腹胀、恶心、精神萎靡3天于1996年5月26日入院.患者3天前无明显诱因出现上腹阵发性绞痛伴腹胀恶心及食欲下降,精神萎靡.在当地医院给抗感染止痛治疗未缓解,故来我院诊治.既往健康,嗜好饮酒,每日喝老白干约500ml.查体:T36.5℃,P98次/分,R22次/分,BP21/14kPa.神志清、贫血貌.皮肤无出血点,无皮疹,无蜘蛛痣及肝掌.巩膜轻度黄染.浅表淋巴结不肿大.颈软,甲状腺无肿大.双肺呼吸音清,未闻及干湿罗音及胸膜摩擦音.心界无扩大,心率98次/分,     

高血压,浮肿,贫血,恶心,呕吐

病历摘要吕××,女51岁,工人。高血压22年,浮肿14年,贫血、恶心、呕吐5个月,于1988年3月2日入院。 22年前开始发现高血压,血压在22.7～24/12～13.2kPa,经常口服降血压药物,具体药名不详,14年前突然不明原因全身浮肿,乏力,即以“急性肾小球肾炎”住本厂职工医院治疗,经治疗后浮肿消退,但尿常规检查蛋白一直在(++)～(+++),血压21.3～24/14.7kPa,浮肿时有时无,休息后消退,曾多次住院治疗,缓解后能上班及做家务劳动,     

四肢麻木,口干,腹胀,排尿困难

主治医师 请住院医师汇报病历.住院医师 患者,男,58岁.因四肢麻木、乏力半月,腹胀10天于1998年5月28日来院.半月前受凉后出现发热、流涕,当地医院经抗炎治疗一周后热退,但却感四肢肿痛及远端肢体麻木、乏力,走路困难,经治疗4天(具体用药不详),关节肿痛消退,但麻木感逐渐加重,由远端向近端发展,同时伴腹胀、恶心、呕吐,口、唇、脸、四肢皮肤干燥,声音嘶哑,口齿不清,无明显腹痛,无排便排气, 但排尿困难,既往体健.查体:T37℃,P70次/分,R20次/分,BP14/10kPa,神清,瞳孔散大5.5mm,直接及间接对光反射消失,双眼无复视,眼球活动自如,悬雍垂居中,咽反射消失,臂中段以下感觉减退,握力略差,下肢膝以下浅感觉减退,肌力4级,腱反射消失,无锥体束征.心肺(一),腹软,肝脾未及,肠鸣音消失.实验室检查:WBC12.7×10~9/L,中性     

浮肿,发热,胸痛,咯血

病历摘要患者，男，25岁，因尿少、浮肿1个月，发热、咳嗽、胞癌、咯血4天，于1997年10月7日入院。患者于1个月前出现尿少、面部及双下肢浮肿．尿量每日700～800ml，无血尿，当地医院诊为“急性肾炎”，用青霉素、强的松等治疗。4天前咳嗽，咳少量粘痰，咯血，每日50～60ml，胸痛，咳嗽及深吸气时较著，胸闷憋气，发热（体温38℃左右），无盗汗，X线胸片报告为“左肺炎”，用先锋霉素后无好转，胸痛加重，仍发热，近2日每日尿量约200～300ml，给速尿静推后尿量仍不增多，转来本院。查体：体温38．1℃，脉搏88次／分，呼吸26次／分，血压14…     

发热,胸痛,腹痛,贫血

1病例简介患者,女,18岁,主因腰背痛、贫血伴发热10 d,门诊以“肾盂肾炎”于2000-12-28收住院。患者于10 d前因受凉出现“感冒”症状,腰背部疼痛,发热,体温38·0~40·0℃,门诊给予先锋V、甲硝唑、清开灵治疗1周,无效,门诊查血常规,WBC 16·8×109/L,N 0·86,L 0·14,Hb 95 g/L,血沉48 mm/h,尿酮(+),改用头孢曲松钠2·0 g静滴3 d,体温36·0~40·5℃,仍有胸痛、腹痛、肌肉关节痛,初步诊断“发热待查”收住血液科。患者既往体健,无疫源物(区)接触史。入院查体:T 38·0℃、P 86次/m in、R 21次/m in、Bp 127/60 mm Hg(1 mm Hg=0·133 kPa)…     

面色苍白,黄疸,发热,昏迷

<正> 病历摘要患男,3岁,于1989年6月24日入院。8d前患儿家长发现面黄、精神差、食欲减退,未引起注意。3d前因食入油炸蚕豆(约50g)后,于次日开始发热,体温38.5℃,伴     

3' base-specific-PCR technique and its application to prenatal diagnosis of beta-thalassemia]

A novel technique names 3' Base-Specific-PCR was used to detect the gene mutations of beta-thalassemia directly without ASO(Allele-specific Oligonucleotide) dot hybridization. Four oligonucleotide primers with 3' Base-Specificity was designed and synthesized according to 3 most common mutations in beta globin gene among Chinese (codon 41-42-(-TTCT) frameshift, codon 17 (A-T) and IVS-II-654(C-T) point mutation). Two fetuses at high risk for beta-thalassemia were diagnosed in early pregnancy by using the 3'-Base-Specific PCR technique. The results were confirmed by means of PCR combined with ASO techniques.     

四川地区重型β-地中海贫血患儿及双亲基因突变的研究

目的 探讨四川地区重型β-地中海贫血患儿及其双亲突变基因类型的特点。方法 对27例β-地中海贫血患儿及双亲采用盐水渗透性试验测定红细胞渗透脆性、碱变性法测定抗碱血红蛋白(HbF)、醋酸纤维薄膜电泳比色法测定血红蛋白A2(HbA2)和氰化高铁血红蛋白法测定Hb等β-地中海贫血血液学检查。用常规方法抽提外周血白细胞DNA，多重等位基因特异聚合酶链反应(MASPCR)分析其基因类型。结果 27例重型β-地中海贫血患儿及其双亲共81例标本中检测出最常见的3种基因突变是CD17(A→T)、CD41-42(-TTCT)、IVS-Ⅱ-654(C→T)，占总数的94．54％。结论 采用MASPCR法进行基因诊断，具有操作简单、快速准确，一次可检测多种突变基因型，提高了基因诊断率。     

肇庆地区人群中β-地中海贫血的基因型分析

摘要：目的了解广东省肇庆地区人群中β-地中海贫血的基因类型及分布频率。方法应用聚合酶链反应技术（PCR）结合反向点杂交（RDB）技术检测β-地中海贫血基因。结果239例β-地中海贫血患者的基因突变类型包括209例杂合子占87．44％,21例双重杂合子占8．79％,9例纯合子占3．77％。其中最常见的基因突变类型为CD41_42占50．96％。其余常见的B-地中海贫血基因突变位点有,-28,A—G;IVS-2nt654,c—T;CDl7,A_T和CD71-72,＋A;BECD26（G-A）;CD27—28,＋C;分另0占14,56％、11．15％、6．51％、6．13％、4．21％和4．21％。结论肇庆地区β-地中海贫血基因最常见的突变类型为CD41-42,双重杂合子及纯合子β-地中海贫血较多见。做好婚前、产前检查和遗传咨询,对预防β-地中海贫血患儿出生极有必要。     

广东省β珠蛋白基因簇RFLP分析及β地中海

RFLP haplotypes of 69 chromosomes from members of 18 families affected with beta-thalassemia (beta T) in Guangdong Province were analyzed. 17 haplotypes were found. Haplotypes 1, 2 and 3 accounted for most of them and 4 new haplotypes were identified, three of which were associated with beta T genes. In 9 families, the haplotype data could be used for definitive prenatal diagnosis. In 7 families, 50% exclusive diagnosis could be achieved. In order to know the frequencies of various beta T genes in Guangdong Province and to improve prenatal diagnosis, we identified the beta T genes of 46 affected children in Guangdong Province by amplifying beta-globin gene sequences with the polymerase chain reaction (PCR) and hybridization with allele specific oligonucleotide (ASO) probes. 82 beta T genes hybridized with 6 probes. The most common beta T mutations were frameshift 41/42-TCTT, -28 A----G and IVS-2 nt654 G----T, accounting for 80% of the total. In 36 families PCR combined with hybridization using 6 ASO probes could provide definitive prenatal diagnosis.     

Chinese in west Malaysia: the geography of beta thalassaemia mutations

The overseas Chinese in West Malaysia are almost exclusively from the south-eastern provinces of China-Kwangtung, Fukien, and Kwangsi. To institute a comprehensive thalassaemia control programme for this region we have characterised the beta thalassaemia mutations in 16 Chinese patients from West Malaysia: 4 beta thalassaemia mutations were seen: a) an A----G substitution in the TATA box [-28 base pairs (bp)], an A----T substitution in codon 17 [17 A----T], c) a 4 base pairs - TCTT deletion in codon 41-42 [frameshift mutation (FSC 41-42)], and d) a C----T substitution at the second intervening sequence (IVS 11) position 654. Similar mutations have been described in patients from the south-eastern provinces of China. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta thalassaemia of ethnic Chinese in West Malaysia to be instituted.     

β地中海贫血一个特殊基因突变的家系分析

目的：对一个国人罕见的重型地中海贫血基凶突变[CD41／42（-TCTT）·-90（C→T）]及其父母进行基因分析。方法：采用PCR／ASO探针杂交法检测中国人常见17种β-地贫基因突变，β-珠蛋白基因全长DNA克隆测序技术分析其突变基闲型。结果：发现先证者父亲携带中国人常见基因突变CD41／42（-TCTT），母亲则为中国少见地中海贫血基因突变-90（C→T），而先证者则为密码子CD41／42（-TCTT）缺失突变复合-90（C→T）转录子突变。结论：-90（C→T）在我国目前仅发现1例家系突变。     

Birth of healthy children after preimplantation diagnosis of β-thalassemia

Background Clinical programs for preventing β-thalassemia are presently based on prospective carrier screening and prenatal diagnosis. This paper report an achievement of a pregnancy with unaffected embryos using in vitro fertilization and embryo transfer (IVF-ET), in combination with preimplantation genetic diagnosis (PGD), for a couple at risk of having children with β-thalassemia.Methods A couple carrying different thalassemia mutations, both a codon 41-42 mutation and the IVS Ⅱ 654 mutation, received standard IVF treatment, with intracytoplasmic sperm injection, embryo biopsiy, single cell polymerase chain reaction (PCR) and DNA analysis. Only unaffected or carrier embryos were transferred to the uterine cavity. After confirmation of pregnancy, a prenatal diagnosis was performed.Results Of a total of 13 embryos analyzed for β-globin mutations, PGD indicated that 2 were normal,3 were affected, and 6 were carriers. Diagnosis could not be made in the other 2 embryos. Three embryos were transferred to the uterus on the third day after oocyte retrieval. Ultrasonography revealed a twin pregnancy with one blighted ovum. The prenatal genetic diagnosis revealed that both fetuses were unaffected, and two healthy boys were born, confirming the results of PGD.Conclusions We developed a single-cell based primer extension preamplification (PEP)-PCR assay for the detection of β-thalassemia mutations. The assays were efficient and accurate at all stages of the procedure, and resulted in the birth of PGD-confirmed β-thalassemia free children in China. PEP was used here in PGD for β-thalassemia.     

Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome

Background Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease. STK11/LKB1 gene germline mutations have been identified as responsible for PJS. In our study, we investigated the molecular basis of PJS and evaluated correlation between the STK11 mutations and the Chinese population.Methods We collected three pedigrees of PJS and screened the 9 exons and their flanking intronic sequences of STK11/LKB1 gene in the probands and normal individuals in the families using polymerase chain reaction (PCR) and direct sequencing.Results Sequencing of the STK11 gene in the probands of 3 families revealed two novel mutations (c180C→G and c998-1002delGCAGC) in exon 1 and exon 8, respectively. The mutation of c180C→G resulted in a premature termination codon. The other mutation, a deletion of five nucleotides (998-1002delGCAGC) in exon 8, predicted to generate a translational frameshift and a termination at codon 1070.Conclusions The growing number of mutations in PJS pedigrees suggests the molecular basis of PJS. STK11 gene mutation can be detected in most patients with PJS.     

中国不同省区β地中海贫血基因变异的分布特征

β地中海贫血是一种具有高发病率的常染色体遗传病,临床上表现为溶血性贫血,也是我国常见的遗传性疾病之一。已证实β地中海贫血的相关基因有200多个变异位点,我国现已报道了34种突变。β地中海贫血的基因突变分布具有明显的种族特征和地域差异。广东、广西、海南、福建、台湾五个地区基因变异存在一定的相似性;云南和贵州两个地区基因变异存在一定的相似性;云南、贵州两地区和广东、广西、海南、福建、台湾五个地区之间基因变异相差较大。现就我国不同地区和群体主要基因突变类型予以综述。     

Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas

Background  Multiple osteochondromas (MO), an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate biosynthesis.

Methods  In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in China.

Results  Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T>A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c.1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the father.

Conclusions  Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.