胆管囊肿的诊治分析(附41例报告)

目的：探讨胆管囊肿的诊断及治疗方法。方法：回顾性分析41例先天性胆管囊肿的临床资料。结果：临床表现为腹痛32例（78．0％），黄疸18例（43．9％），腹部包块14例（34．1％），发热，寒颤6例（14．6％），出现胆管囊肿三联征6例（14．6％），30例行B超检查，26例见胆管扩张；18例行CT检查，15例发现胆管扩张；10例行MR检查，9例有胆管扩扩长。37例患者施行手术治疗，27例行胆管空肠吻合（23例行Roux-en-Y吻合），3例行单纯胆管十二指肠吻合，3例行外引流术，2例行肝叶（段）部分切除，2例行单纯囊肿切除，胆管重建。结论：伴腹痛，肿块，黄疽，胆管囊肿，三联征者不多见。I型在临床上多见，B超，CT和MR有重要诊断价值。能代替有创检查如PTC或ERCP。目前最佳手术方法为囊肿切除，胆管空肠吻合术。     

An additional case of craniodigital syndrome: variable expression of the Filippi syndrome?

We report on a boy with severe growth and mental retardation, syndactyly of toes and facial anomalies. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.     

聚合酶链反应检测疱疹Ⅱ型病毒先天性宫内感染的研究

以人工合成的单纯疱症Ⅱ型病毒DNA多聚基因片段为引物，采用聚合酶链反应技术(PCR)检查早孕绒毛标本中疤疹I型病毒感染，以80例自发和人工流产的早孕绒毛组织标本进行基因扩增，31例绒毛标本中检出HSV—Ⅱ，并与同一绒毛标本的免疫组织化学结果进行比较，PCR技术免除了昂贵繁杂的分子杂交过程，具有极高的敏感和特异性，为早期、快速产前诊断HSV先天性宫内感染的最佳技术。     

Renpenning syndrome in an Indian patient

Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent.     

Oligodontia, short stature and small head circumference with normal intelligence

Complete absence of third molars and mandibular permanent second molars is reported in a 19-year-old female, with occipito-frontal head circumference and height at the 3rd centile. The patient's intelligence, appearance and physical examination were normal. Direct count of the patient's sweat pores in different areas of the palms and digits was normal. Microcephaly, short stature and normal intelligence have been reported in two families as a distinct autosomal dominant syndrome. To the best of our knowledge, oligodontia, in addition to these findings, has not been previously reported.     

A new syndrome with cardiac malformation,cleft lip-palate,microcephaly and digital anomalies?

A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.     

Dominantly inherited syndrome of microcephaly and congenital lymphedema

A Chinese family is reported in which microcephaly and congenital lymphedema have been observed in at least 4 generations. This combination of symptoms can be presumed to represent a rare but well defined hereditary syndrome transmitted by an autosomal dominant gene.     

Radio-ulnar synostosis,short stature,microcephaly, scoliosis,and mental retardation

We report on a 9-year-old boy with radioulnar synostosis, short stature, microcephaly, soliosis, and mental retardation. We propose that he has a new syndrome. © 1995 Wiley-Liss, Inc.     

Potential Association between Zika Infection and Microcephaly during 2007 Fever Outbreak,Gabon

Although Zika virus (ZIKV) circulates in sub-Saharan Africa, no case of ZIKV-associated microcephaly has thus far been reported. Here, we report evidence of a possible association between a 2007 outbreak of febrile illness and an increase in microcephaly and possibly ZIKV infection in Gabon.     

Engineered NS1 for Sensitive,Specific Zika Virus Diagnosis from Patient Serology

Dengue virus (DENV) and Zika virus (ZIKV) belong to the Flaviviridae family of viruses spread by Aedes aegypti mosquitoes in tropical and subtropical areas. Accurate diagnostic tests to differentiate the 2 infections are necessary for patient management and disease control. Using characterized ZIKV and DENV patient plasma in a blind manner, we validated an ELISA and a rapid immunochromatographic test for ZIKV detection. We engineered the ZIKV nonstructural protein 1 (NS1) for sensitive serologic detection with low cross reactivity against dengue and developed monoclonal antibodies specific for the ZIKV NS1 antigen. As expected, the serologic assays performed better with convalescent than acute plasma samples; the sensitivity ranged from 71% to 88%, depending on the performance of individual tests (IgM/IgG/NS1). Although serologic tests were generally less sensitive with acute samples, our ZIKV NS1 antibodies were able to complement the serologic tests to achieve greater sensitivity for detecting early infections.