侧脑室－头静脉分流术治疗梗阻性脑积水

通过对２５例成人尸体的解剖学调查及应用＂侧脑室─头静脉分流术＂治疗２３例梗阻性脑积水的临床疗效观察，旨在确立一种脑积水症手术分流的新途径。２３例手术病人显效率９２％（２１／２３）。１８例（７８％）基本恢复正常。３例（１３％）明显好转。２例轻度改善。分析表明：头静脉具备位置浅表恒定、管径适宜、瓣膜可防止血液返流等解剖学特点。是一条可供选择的较为理想的脑积水症分流途径。     

Central nervous system malformations in the Kraków region. II. Case control studies on the human leukocyte antigen genotype and haplotype frequenciess

A case control study of human leukocyte antigen haplotypes was performed on a sample of 44 index families of children with central nervous system (CNS) malformation and 36 families of healthy newborn infants. HLA typing for antigens determined by loci A, B, and C was done on parents and offspring. The HLA genotypes were inferred from segregation in families and the HLA gene and haplotype frequencies were obtained by direct gene counting. Casecontrol comparison did not uncover significant differences at any HLA allele. The haploytype pattern in the group of index cases did not show association with CNS malformations. The HLA phenotype compatibility among the probands' and controls' parents was within the same range except for locus C where parents of children with neural tube defects (NTD) less frequently shared common HLA-C antigens. The segregation of paternal haploytypes showed significant deviation in the families of NTD infants.     

CNS malformations in the kraków region. I. Birth prevalence and seasonal incidence during 1979–1981

The birth prevalence of CNS malformations in the region of Krakow from 1979 to 1981 was determined to be 1.26/1000 from records of all live- and still-birth deliveries. The frequency of anencephaly was 0.23/1,000; spina bifida and encephalocele, 0.70/1000; isolated hydrocephaly, 0.26/1,000; and other CNS anomalies, 0.06/1,000. The observed rates are below the median European level. Female preponderance was found among the probands with anencephaly, encephalomeningocele, and myelomeningocele. Cytogenetic examination of 35 newborns with CNS malformations documented normal karyotypes in all neonates. The analysis of seasonal distribution of proband's birthdate and of date of mother's last menstrual period showed no significant seasonal trend.     

Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis,brain malformation and digital hypoplasia

We describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube-neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.     

精氨酸对阻塞性黄疸大鼠的免疫调节作用

阻塞性黄疸患者围手术其易感性明显高于非黄疸者，其发病原因尚不完全清楚。本文研究了阻塞性黄疸大鼠脾脏淋巴细胞白细胞介素２生成能力及抑制性Ｔ淋巴细胞功能的变化；同时观察了精氨酸对阻塞性黄疸大鼠免疫功能的影响。结果显示：胆管结扎大鼠脾脏淋巴细胞白细胞介素２生成能力明显下降，抑制性Ｔ淋白细胞活性明显增强；应用精氨酸治疗的阻塞性黄疸大鼠脾脏淋巴细胞白细胞介素２生成能力较单纯胆管结扎大鼠明显增强；抑制性Ｔ淋巴     

“Holoprosencephaly-polydactyly” (pseudotrisomy 13) syndrome: Expansion of the phenotypic spectrum

Analysis of familial cases of the so called “holoprosencephaly-polydactyly” (“pseudotrisomy 13”) syndrome shows that neither holoprosencephaly, nor polydactyly are obligatory manifestations of this condition. This review of previous case report shows that each of these anomalies is only found in approximately 60% of affected sibs, and therefore these sentinel abnormalities are not required for diagnosis. We propose a widening of the phenotypic spectrum of this syndrome and consideration of the use of an eponomic name, such as the Cohen-Gorlin syndrome, or clear recognition that the sentinel findings of holoprosencephaly and polydactyly are not essential for diagnosis. We propose the following diagnostic criteria for the syndrome. The diagnostic criteria for sporadic cases would include a normal karyotype and either (1) a combination of holoprosencephaly and postaxial polydactyly with or without other characteristics, or (2) a combination of holoprosencephaly with other characteristics but without polydactyly, or (3) a combination of postaxial polydactyly, brain defects (microcephaly, hydrocephaly, agenesis of corpus callosum) and other characteristics. The diagnostic criteria for the familial cases would be the same, except that, as long as the other sibs have no abnormalities contradicting the diagnosis, a normal karyotype would be required in only one affected sib. © 1993 Wiley-Liss, Inc.     

Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome

We report on the prenatal ultrasonographic diagnosis of Walker-Warburg syndrome based on cerebral and ocular findings. The ultrasound study done at 37 weeks gestation documented hydrocephalus and retinal nonattachment consistent with this syndrome. The ability to detect retinal nonattachment prenatally may have implications for the prenatal diagnosis of other conditions which have early retinal nonattachment as one of their findings. However, it is uncertain how early in pregnancy this defect can be detected. © 1995 Wiley-Liss, Inc.     

Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile

A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an esophageal atresia and hydrocephaly. Protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. However, DNA analysis of the COL3A1 gene revealed a pathogenic mutation (388G-->T) in both the mother and the son. The possible relationship between the observed congenital anomalies and EDS IV are discussed. We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis.     

A ubiquitous membrane fusion protein αSNAP: a potential therapeutic target for cancer,diabetes and neurological disorders?

Alpha soluble NSF attachment protein (αSNAP) is a ubiquitous and indispensable component of membrane fusion machinery. Deletion of αSNAP is embryonically lethal. Yet, there is accumulating evidence that milder alterations in expression levels of αSNAP may be associated with a number of specific pathological conditions, such as several neurological disorders, Type 2 diabetes and aggressive neuroendocrine tumours. Here, the authors review the evidence available for animal models and for humans, and discuss possible therapeutic approaches that may target αSNAP.