Baraitser–Winter cerebrofrontofacial syndrome: Report of two adult siblings

Baraitser–Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.     

基于Client／Server结构的医院图像处理系统

作者介绍了一种医院图像处理系统，可将医院的各种设备所产生的医疗图象资料，动用先进的可读写光盘为存储介质有效地进行存储，再通过通信网络及时地传送到医院的各个部门，辅助医生进行临床诊断及科研，提高有关科室及整个医院的工作效率及经济效益。     

Interstitial deletions 4q21.1q25 and 4q25q27: Phenotypic variability and relation to Rieger anomaly

We describe clinical and chromosomal findings in two patients with del(4q). Patient 1, with interstitial deletion (4)(q21.1q25), had craniofacial and skeletal anomalies and died at 8 months of hydrocephalus. Patient 2, with interstitial deletion (4)(q25q27), had craniofacial and skeletal anomalies with congenital hypotonia and developmental delay. These patients shared certain manifestations with other del(4q) patients but did not have Rieger anomaly. Clinical variability among patients with interstitial deletions of 4q may be related to variable expression, variable deletion, or imprinting of genes within the 4q region. © 1995 Wiley-Liss, Inc.     

Classical Noonan syndrome is not associated with deletions of 22q11

Deletions of 22qll cause DiGeorge sequence (DGS), velo-cardio-facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22qll deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22qll deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22qll deletion. A 2-month-old infant with several findings suggestive of NS did have a 22qll deletion, suggesting that a small number of 22qll deletion propositi may present with a NS-like picture. However, most cases of NS must have another cause. © 1995 Wiley-Liss, Inc.     

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes,diagnosis, and care

Arthrogryposis or AMC, arthrogryposis multiplex congenita, is defined as multiple congenital joint contractures in more than two joints and in different body areas. The common cause of all AMC is lack of movement in utero, which in turn can have different causes, one of which is CNS involvement. Intellectual disability/CNS involvement is found in approximately 25% of all AMC. AMC with CNS involvement includes a large number of genetic syndromes. So far, more than 400 genes have been identified as linked to AMC, with and without CNS involvement. A number of neonatally lethal syndromes and syndromes resulting in severe disability due to CNS malfunction belong to this group of syndromes. There are several X‐linked disorders with AMC, which are primarily related to intellectual disability. A number of neuromuscular disorders may include AMC and CNS/brain involvement. Careful clinical evaluation by a geneticist and a pediatrician/pediatric neurologist is the first step in making a specific diagnosis. Further investigations may include MRI of the brain and spinal cord, electroencephalogram, blood chemistry for muscle enzymes, other organ investigations (ophtalmology, cardiology, gastrointestinal, and genitourinary systems). Nerve conduction studies, electromyogram, and muscle pathology may be of help when there is associated peripheral nervous system involvement. But most importantly, genetic investigations with targeted or rather whole exome or genome sequencing should be performed. A correct diagnosis is important in planning adequate treatment, in genetic counselling and also for future understanding of pathogenic mechanisms and possible new treatments. A multidiciplinary team is needed both in investigation and treatment.     

老年抑郁症和焦虑障碍共病患者的临床特征

目的探讨老年抑郁症和焦虑障碍共病患者的临床特征。方法根据美国精神障碍诊断手册第四版(DSM-IV)的诊断标准,把78例老年抑郁症患者分为两组,单纯抑郁症组(抑郁症组,N=44)及抑郁症和焦虑障碍共病组(共病组N=34)。对所有对象评定一般人口学资料及老年抑郁量表(GDS)、汉密顿抑郁量表(HAMD)、汉密顿焦虑量表(HAMA)、简易智能状态评定量表(MMSE)和健康状况调查问卷(SF-36)等,比较两组患者间差异。结果抑郁症组与共病组患者的性别、年龄、病程、居住情况、家族史、民族、发病诱因和受教育年限等方面的差异无统计学意义(均P>0.05)。GDS总分(14.0±1.2/12.1±2.0,t=4.92)、HAMD(38.1±4.0/33.4±4.7,t=4.35)和HAMA总分(22.6±5.5/11.7±2.7,t=10.93)及其因子分、HAMD第3项(自杀)条目分、SF-36躯体功能(79.2±13.6/69.1±13.6,t=3.25)、社交功能(70.0±21.2/50.0±22.5,t=4.02)评分共病组均高于抑郁症组差异有统计学意义(均P<0.05)。结论老年抑郁症和焦虑障碍共病患者较单纯抑郁患者的抑郁和焦虑症状更重、自杀风险大、生活质量更差。     

急性冠脉综合症与补体激活

目的： 评价各种类型急性冠脉综合症 (ACS) 病人补体激活的情况和补体激活与心肌损伤的关系。方法： 研究对象分为ACS组110例和正常对照组18人。 ACS组包括ST段抬高型心肌梗死（STEMI）51例，非ST段抬高型心肌梗死（NSTEMI）28例和不稳定性心绞痛（UA）31人。检测病人和正常对照健康人血浆C₃和C₄，CK-MB和肌钙蛋白T (TnT)浓度。结果： STEMI和 NSTEMI病人峰值C₃ 水平［分别为（1 525±302） mg/L和（1 516±289）mg/L］ 和C₄［分别为（423±123） mg/L和（396±68） mg/L］水平高于UA病人和对照组的C₃［分别为（1 275±172） mg/L和（1 072±196） mg/L,P<0.01］ 和C₄［分别为（356±91）mg/L和（182±73） mg/L,P<0.01］。UA病人的 C₃ ［(1 275±172） mg/L］和C₄ ［（356±91） mg/L］均高于对照组（P<0.01）。 ACS病人C₃和C₄水平在住院的前7 d均有明显的变化（P<0.01）。ACS病人峰值C₃和C₄水平与峰值CK-MB（分别为r=0.51和r=0.46，P<0.01）和肌钙蛋白T（分别为r=0.48和r=0.39，P<0.01）呈正相关。结论： ACS病人血浆C₃和C₄均明显升高。C₃和C₄水平与ACS的联系提示补体激活与心肌坏死有关。     

经皮锁定加压钢板固定胫骨多段骨折21例疗效分析

目的探讨经皮锁定加压钢板(locking compression plate,LCP)手术治疗胫骨多段骨折的临床疗效。方法将2010年6月~2011年12月收治的胫骨多段骨折患者,根据AO分类方法筛选出C2型骨折21例:左侧9例,右侧12例;男性14例,女性7例;年龄15~71岁,平均(44±2.1)岁。入选病例均采用微创经皮插入LCP钢板手术内固定治疗。结果随访8~15个月,术后3~4月骨折线变模糊,术后6~9月骨折处出现大量骨痂;膝关节屈曲为(147±3.2)°,伸直为(0±0.5)°;踝关节背伸(9±1.2)°,跖屈(43±2.1)°;Johner-Wruhs评分标准:优17例,良3例,可1例,差0例;优良率95.24%。结论经皮LCP钢板固定胫骨多段骨折安全、有效,是值得推广的手术方式。     

Short rib-polydactyly syndrome and pericentric inversion of chromosome 4

We report on a newborn infant with clinical and radiological manifestations of some type of short rib-polydactyly syndrome who died soon after birth. Chromosomal studies on peripheral blood lymphocytes and chondrocytes demonstrated an apparently balanced pericentric inversion of chromosome 4 (present in the mother also). This association may have occurred by chance but, if not, the chromosomal breakpoints could interrupt the gene responsible for short rib-polydactyly syndromes, or else be related to the mechanism of short rib-polydactyly syndromes. © 1994 Wiley-Liss, Inc.