Two Autopsied Cases of Familial Sudanophilic Leukodystrophy

Abstract: Two autopsied female sibling cases of sudanophilic leukodystrophy are reported. Case A and case B were the second and third of seven siblings, and a sister and a brother died from severe progressive neurological disease with similar symptoms. Consanguineous marriages were noted in the family of both cases through the past three generations. Case A gradually developed intellectual deterioration and tetraplegia at the age of 29, progressed to akinetic mutism within one year and thereafter survived for 14 years. Neuropathologically, a severe atrophy and degeneration were noted in the white matter of the whole cerebrum, sparing the subcortical U-fibers. Myelin and axons were severely damaged with peripheral astrocytic gliosis. Case B developed similar clinical symptoms at the age of 20 and survived for 7 years in the state of akinetic mutism. Similar postmortem findings as those of case A were found in the white matter of the cerebrum with formation of sudanophilic breakdown products and with thick fibrillary gliosis. The pyramidal tract was completely degenerated. There was no accumulation of abnormal lipid in the brains of both cases.     

PETHEMA ALL-93研究结果:成人高危急性淋巴细胞白血病缓解后维持治疗、异基因和自体造血干细胞移植的疗效比较

4背景 近年，成人急性淋巴细胞白血病（acute lymphoblastic leukemia，ALL）诱导完全缓解（complete remission，CR）率可达80％～85％．5年无病生存率（diseases-free survival，DFS）30％-40％。成人ALL预后的改善可能与采用了包括以大剂量甲氨蝶呤联合阿糖胞苷的强烈巩固治疗方案有关．并与根据疾病危险度进行分级分层治疗、根据疾病亚型制定个体化的治疗方案有关。     

Medulloblastoma in adulthood: Prognostic factors influencing survival and recurrence

Summary Thirty adult patients presenting with medulloblastoma between 1974 and 1991 were studied and treated at Puerta de Hierro Clinic. After diagnosis, all patients were treated by surgery followed by radiotherapy and eight of them received adjuvant chemotherapy. We have studied the influence of some factors such as age, sex, location of tumour in the cerebellum, amount of surgical resection and histological variants on survival and recurrence of the disease. Only the histological type has a statistically significant influence on survival and recurrence: we have found that patients presenting classic medulloblastoma have a long survival and a long relapse-free interval.     

Neurotrophin-like immunoreactivity in the human pre-term newborn, infant, and adult cerebellum

The immunohistochemical occurrence of the neurotrophin (NT) proteins nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin-4 (NT-4), and neurotrophin-3 (NT-3) is shown in the pre-term newborn, infant, and adult human post-mortem cerebellum. The NT-like immunoreactive structures were unevenly distributed and showed regional differences among cerebellar lobules and folia. NGF-, NT-4-, and NT-3-positive neuronal perikarya were observed in all specimens examined. At variance with the other neurotrophins, the BDNF antiserum labelled neuronal cell bodies only in newborn life and infancy, as well as extensive nerve fibre systems, whose density increased with age. The NT-antibodies, tested by Western blot on human cerebellum homogenates, revealed immunoreactive bands corresponding to proteins of heterogenous molecular weight. The results obtained provide a first demonstration of the tissue localization of the NTs in the human cerebellum from perinatal to adult age, thus suggesting their involvement in the development, differentiation and maintenance of the cerebellar connectivity. Codistribution of the four NTs or sets of them was observed in cortical and deep nuclei neurons. Multiple trophic roles for NTs, encompassing the classic target-derived and local mechanisms of support, are envisaged as significant in development, differentiation, and maintenance of the human cerebellar connectivity.     

Case Report: Giant choledochal cyst

We report an adult female with a rare giant choledochal cyst. The patient presented following a normal pregnancy with the classical triad of an abdominal mass associated with jaundice and right upper quadrant abdominal pain. The cyst was excised using an intramural technique and biliary reconstruction achieved with a Roux-en-Y hepaticojejunostomy. Our patient has remained well with no evidence of malignancy over a 12 year review period. The aetiology and current management of this condition are discussed.     

各型成人高原心脏病的临床特点

本文报告了303例各型成人高原心脏病的临床分析结果。成人高原心脏病单纯型比混合型具有发病急、心脏传导系统损害重、病变累及全心及治疗反应较好的特点。混合型系继发于高原红细胞增多症与高原高血压的慢性心脏损害。其消化系统与神经系统损害重。心高型以左心损害为主,左室扩大、左室肥厚、主动脉增宽弯曲及心律失常率分别高于心红型(P<0.05～0.01);心红型以右心损害为主,右室扩大、右室肥厚、肺动脉段与圆锥隆突率分别高于心高型(P<0.05～0.01);心红高型全心损害常见而且严重。根据各型成人高原心脏病的病理机制而采用不同治疗方法对提高该病的治愈率有重要意义。     

Glial cell line-derived neurotrophic factor (GDNF) gene expression in the human brain: A post mortem in situ hybridization study with special reference to Parkinson's disease

Summary Glial cell line-derived neurotrophic factor (GDNF) is a potent neurotrophic factor for dopaminergic neurons. Since dopaminergic neurons degenerate in Parkinson's disease, this factor is a potential therapeutical tool that may save dopaminergic neurons during the pathological process. Moreover, a reduced GDNF expression may be involved in the pathophysiology of the disease. In this study, we tested whether altered GDNF production may participate in the mechanism of cell death in this disease. GDNF gene expression was analyzed by in situ hybridization using riboprobes corresponding to a sequence of the exon 2 human GDNF gene. Experiments were performed on tissue sections of the mesencephalon and the striatum from 8 patients with Parkinson's disease and 6 control subjects matched for age at death and for post mortem delay. No labelling was observed in either group of patients. This absence of detectable expression could not be attributed to methodological problems as a positive staining was observed using the same probes for sections of astroglioma biopsies from human adults and for sections of a newborn infant brain obtained at post-mortem. These data suggest that GDNF is probably expressed at a very low level in the adult human brain and its involvement in the pathophysiology of Parkinson's disease remains to be demonstrated. GDNF may represent a powerful new therapeutic agent for Parkinson's disease, however.     

Distributive profiles of free and protein-incorporated tryptophan and valine in cerebral cortex slices from adult and 2-day-old rats

The distribution of the specific radioactivity and the incorporation into protein of [³H]-tryptophan and [³H]valine at varying layers from surface to centre were measured in incubated slices of cerebral cortices from infant and adult rats. Specific radioactivity in free amino acids was in both age groups highest in the intact surface layer. Incorporation of tryptophan into protein was even in slices from adult rats but much less than the average in the surface layers in slices from infant rats. Incorporation of valine exhibited similar heterogeneity in both age groups. The results suggest in brain slice preparations a zonal compartmentation of amino acid and protein metabolism which varies for different amino acids.     

新生鼠和成年鼠脑7种微量元素含量的比较

利用高频电感耦合等离子体原子发射光谱法（ICP－AES）测定Sprunge－Dawley大鼠新生期大脑皮层、海马、小脑、间脑和脑桥等部位的锌、铁、铜、锰、铬、锶、钼等7种微量元素的含量，并与成年动物做了比较。结果表明：（1）新生期大鼠全脑7种微量元素含量的多寡依次为：锌、铁、铬、锶、锰、铜、钼；成年期时钢跃居第四位，总含量低于新生期。（2）脑内不同部位微量元素的含量不同。新生大鼠海马和小脑内多数元素含量高于其他脑区，钼在间脑和海马中含量较高。成年鼠皮层、海马微量元素含量较高，皮层内铜、锶、钼含量最低。