以中枢神经系统症状为首发表现的干燥综合征1例并文献复习

目的:探讨干燥综合征累及中枢神经病变的临床表现及诊断、鉴别诊断、治疗。方法:报告中国人民解放军第175医院1例累及中枢神经病变的干燥综合征患者的临床资料并复习相关文献,对其临床表现、诊断、容易混淆的鉴别诊断及治疗进行分析。结果:1例累及中枢神经病变的干燥综合征患者经治疗病情好转出院。结论:累及中枢神经病变的干燥综合征,尤其以中枢神经系统症状为首发表现者,极易误诊为多发性硬化,遇可疑病例应及时完善检查,避免因忽视其它系统症状而导致漏诊和误诊,影响患者的预后。     

先天性心脏病相关综合征的遗传学研究

先天性心脏病(congenitalheartdisease,CHD)是儿科常见的疾病,现已发现约有300多种临床综合征伴有CHD.对Alagille综合征、CHARGE联合征、Holt-Oram综合征、Noonan综合征、Turner综合征、VACTERL联合征、Williams综合征、22q11缺失综合征和13、18、21三体综合征与CHD相关流行病学、临床表型、遗传病因和诊断及其再发风险进行了综述,为产前和产后临床诊断,了解疾病预后和再发概率提供资料.     

以疲乏为主诉的肿瘤内分泌副综合征一例并文献复习

目的:肿瘤内分泌副综合症是肿瘤病人需警惕的并发症,抗利尿激素分泌异常综合症是其较常见的一种,常无明显临床表现,容易忽视和漏诊,其与肿瘤发病率,死亡率相关.本文旨在探讨肿瘤内分泌副综合症的早期诊治以便有助于改善患者的生存质量及预后.方法:通过报道一例以疲乏为主诉的肿瘤副综合症并进行相关文献的回顾性复习与分析.结果:准确诊断内分泌副肿瘤综合症是临床医生必须高度重视的,对部分肿瘤内分泌副综合症为排除性诊断,需要完善的临床资料,不可轻易诊断.治疗以控制肿瘤为主结合控制引起综合症的内分泌原因.结论:肿瘤内分泌综合症需要受到临床医师重视,尽量减少漏诊误诊,完善资料准确诊断,积极治疗可改善预后.     

属性层次模型在中医证候诊断中的应用

目的：研究一种综合考虑专家主观经验和机器学习客观规则的中医证候诊断模型。方法：基于属性层次分析模型,提出了一种可以应用于中医证候识别的方法,并编程实现了智能系统。系统融合中、西医多个特征构建决策属性,集成中医专家主观经验和机器学习客观规则联合辨证,实现了离散属性测度、相对属性权和合成属性权的计算方法。结果：构建了中医证候诊断系统,针对肝硬化样本病例学习辨证规则,并识别新样本的证候。结论：通过中医肝硬化数据进行系统的实例验证研究,表明该系统所得辨证结果与临床诊断吻合较好。     

脆性X综合征的分子遗传学研究进展

脆性X综合征是常见的遗传性智力低下性疾病,其发病率高,临床表现复杂,遗传规律独特,对脆性X 综合征的发病机理和脆性X综合征筛查与诊断方法等方面的一些研究进展进行了综述.     

Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)

We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.     

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen

Cohen syndrome is an autosomal recessive condition associated with developmental delay, facial dysmorphism, pigmentary retinopathy, and neutropenia. The pleiotropic phenotype, combined with insufficient clinical data, often leads to an erroneous diagnosis and has led to confusion in the literature. Here, we report the results of a comprehensive genotype-phenotype study on the largest cohort of patients with Cohen syndrome assembled to date. We found 22 different COH1 mutations, of which 19 are novel, in probands identified by our diagnostic criteria. In addition, we identified another three novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who did not fulfill the diagnostic criteria ("Cohen-like" syndrome). This study provides a molecular confirmation of the clinical phenotype associated with Cohen syndrome and provides a basis for laboratory screening that will be valuable in its diagnosis.     

Langer-Giedion syndrome associated with submucous cleft palate

We report a 4-year-old girl with characteristic features of the Langer-Giedion syndrome (trichorhinophalangeal syndrome type II) who also had submucous cleft palate. When she underwent a palatoplasty, a diagnosis of Langer-Giedion syndrome was made because of the characteristic facial features, multiple exostoses, and partial deletion of the long arm of chromosome 8. This is the first case of trichorhinophalangeal syndrome associated with cleft palate. We review the clinical alterations of trichorhinophalangeal syndromes and differential diagnosis of Langer-Giedion syndrome from trichorhinophalangeal syndrome type I and hereditary multiple exostoses. We also describe the importance of trichorhinophalangeal syndrome in plastic surgery.     

Mirizzi症合症 32 例临床分析

目的：探讨Mirizzi综合症的诊治。方法：将32例经手术证实的Mirizzi综合症的诊断与治疗加以归纳分析。结果：31例均一期手术治愈,7例并发胆管狭窄,2例出现漏胆。另有一例反复发作胆管炎12年。结论：术前诊断以胆道造影学检查为主,其中确诊是正确手术的关键。     

Gilbert 综合征肝活检的超微结构特征*

目的:确定Gilbert综合征患者肝组织的超微结构特征,为Gilbert综合征的诊断和鉴别诊断提供新的方法。方法:按电镜常规进行标本制备,应用透射电镜对20例Gilbert综合征患者肝穿刺活检组织进行超微结构观察。结果:肝细胞可出现巨大线粒体,常含有副晶格样包涵体、较明显的基质致密颗粒。肝细胞常见脂褐素颗粒增多,多分布于毛细胆管周围肝细胞内。可出现较有特征性的色素颗粒,大小不等,卵圆形或不规则形,含有电子致密块状颗粒,与电子密度略低的聚集物以及脂滴互相混杂。这些溶酶体颗粒的基质由细小的、弱嗜锇性的颗粒组成。少数颗粒类似Dubin-Johnson综合征的颗粒。但颗粒较小,缺少致密核芯结构。结论:特征性的含粗大电子致密物的溶酶体对Gilbert综合征的诊断有重要参考价值。     

Apert syndrome with partial preaxial polydactyly.

Acrocephalosyndactyly type I or Apert syndrome is characterized by craniosynostosis, particular dysmorphic features and abnormalities of the hands and feet. Rarely, polydactyly of the toes has been reported, and in this event the diagnosis of Carpenter syndrome must be discussed. A case of atypical Acrocephalosyndactyly type I syndrome with partial preaxial polydactyly is reported. Despite this preaxial polydactyly a diagnosis of Apert syndrome consecutive to a new mutation was made, and the possibility of recurrence considered to be highly improbable.     

肾病综合征合并肺栓塞的临床研究进展

肾病综合征是一种临床常见疾病,其患者体内常呈高凝状态,极易发生血栓栓塞事件,而其中以肾静脉血栓、肺动脉栓塞和 下肢深静脉血栓最为常见。由于肺动脉栓塞早期缺乏特征性的临床表现,病情隐匿,所以极易误诊或漏诊,发现时患者病情往往 已十分严重,致死率极高。目前,对于肾病综合征合并肺栓塞的发生率国内外报道不一,尚无准确的流行病学资料,而对于其发病 原因、危险因素、早期诊断及是否需要预防性抗凝治疗等均存在争议,本文主要结合文献对肾病综合征合并肺栓塞的流行病学、 病因及发病机制、诊断、高危因素和治疗进行了综述,尤其是对目前争议较大的肾病综合征合并肺栓塞患者是否需要早期抗凝治 疗。     

Prenatal and postnatal prevalence of Turner's syndrome: a registry study.

OBJECTIVE--To study prevalence of Turner''s syndrome in Denmark and to assess validity of prenatal diagnosis. DESIGN--Study of data on prenatal and postnatal Turner''s syndrome in Danish Cytogenetic Central Register. SUBJECTS--All registered Turner''s syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. MAIN OUTCOME MEASURES--Prevalence of Turner''s syndrome karyotypes among prenatally tested fetuses and Turner''s syndrome among liveborn infants. RESULTS--Among infant girls, prevalence of Turner''s syndrome was 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner''s syndrome karyotypes was 176/100,000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100,000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner''s syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner''s syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner''s syndrome of between 21% and 67%. There was no significant relation between mother''s age and risk of Turner''s syndrome. CONCLUSIONS--Discrepancy between prenatal and postnatal prevalence of Turner''s syndrome challenges specificity of prenatal examination in diagnosing Turner''s syndrome.     

Detection of chromosomal abnormalities using cordocentesis]

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum. Comparison of ultrasonic examination of fetuses with the data on abortus autotopsia was undertaken. The results demonstrate importance of ultrasonic, cytogenetic, biochemical and morphological research in prenatal malformation diagnosis.     

The changing role of the clinical laboratory in the investigation of polycystic ovarian syndrome

In this review we outline clinical features, presentation and pathogenesis of polycystic ovarian syndrome (PCOS), treatment objectives and therapeutic options. We focus on and outline the changing role of the clinical laboratory in diagnosis and treatment of this condition. We also review recent information on the involvement of insulin resistance in the syndrome. We provide some explanation for confusion over the selection of the best hormone measurements for diagnosis. Finally, we outline the best current and future laboratory support for this common condition in young women.     

Incomplete EcoRI digestion may lead to false diagnosis of fragile X syndrome

Molecular diagnosis of fragile X syndrome is usually performed using Southern blot analysis of DNA digested with EcoRI. In the course of diagnostic studies, we observed that a specific EcoRI restriction site in the fragile X gene (FMR1) is sometimes refractory to digestion, generating additional fragments on a Southern blot suggestive of a full mutation in FMR1. This may lead to a false-positive diagnosis of fragile X syndrome. Such additional bands are avoided by the use of HindIII instead of EcoRI. Therefore, we recommend the use of HindIII for the molecular diagnosis of fragile X syndrome. Received: 11 September 1997 / Accepted: 25 September 1997     

The diagnosis and differential diagnosis of Cushing's syndrome

Cushing's syndrome is defined as the symptoms and signs of glucocorticoid excess, but the precise diagnosis may be difficult to establish and harder to localise. The clinicial, biochemical and imaging features of the syndrome are discussed in the light of our own extensive experience and the published literature. We describe the optimal diagnostic routines currently recommended in major centres, and analyse the sensitivities and specialities of the various tests employed. Only by means of establishing a precise diagnosis can the disorder be successfully treated.     

Elejalde syndrome: clinical and histopathological findings in an Egyptian male

Elejalde syndrome is a rare disorder. An Egyptian male patient with Elejalde syndrome is presented. He had silvery hair since birth, generalized hypopigmentation, severe primary central nervous system dysfunction, and normal hematological and immunologic profiles. Magnetic resonance of the brain revealed prominent cerebellar atrophy with mild fronto-parietal cortical atrophic changes. Microscopic analysis of his hair showed melanin clumps irregularly distributed along the hair shafts, and a skin biopsy showed increased pigmentation in the basal melanocytes. The differential diagnosis of silvery hair disorders includes Elejalde syndrome, Griscelli and Chediak-Higashi syndromes. In the present report, we review the literature on Elejalde syndrome and discuss the differential diagnosis.     

Kabuki syndrome and trisomy 10p

Kabuki syndrome (KS) (MIM 147920) is a multiple congenital anomalies/mental retardation syndrome of unknown cause. There is multisystem involvement of anomalies, including 1) unique facial features, 2) postnatal growth retardation, 3) mild-to-moderate mental retardation, 4) skeletal anomalies and 5) dermatoglyphic abnormalities. Kabuki syndrome remains a clinical diagnosis despite significant research on detection of the genetic cause. We present 10 patients with Kabuki syndrome with a brief overview of the syndrome. An additional male patient and his affected aunt, both with trisomy 10p due to unbalanced segregation of a familial translocation, are also discussed for overlapping features and differential clinical diagnosis of the two conditions. Considering a significant overlap in clinical pictures of Kabuki syndrome and trisomy 10p in these two patients, as well as the previous patients with chromosomal abnormalities, we conclude that chromosome analysis is an important step in clinical work-up of patients with Kabuki syndrome.