Fatal outcome in a case of pontocerebellar hypoplasia type 2

Pontocerebellar hypoplasia (PCH) is a very rare congenital (autosomal recessive) condition with fetal onset. Only a few cases have been published on the basis of both clinical data (symptoms/neuroradiological imaging) and autopsy results. This paper reports on such a case involving a 1.5-year-old male infant. The child suffered from severe psychomotor delay, extrapyramidal dyskinesia and epileptic seizures, but did not exhibit signs of spinal muscular atrophy as related to PCH type 1. Magnetic resonance imaging (MRI) at the age of 6 months demonstrated olivo-pontine and bilateral cerebellar hypoplasia. The boy was unexpectedly found dead. Autopsy disclosed a severe aspiration of gastric contents as the final cause of death. The neuropathological examination confirmed PCH type 2 (according to Barth [Brain Dev., 15 (1993) 411-422]) with marked microcephaly and olivopontocerebellar hypoplasia. Histologically, decreased density of olivo-pontine neurons, reduction of granular and Purkinje's cell layers of the cerebellum, slight astroglial proliferation and fragmented appearance of the dentate nuclei were observed. The immunohistochemical expression pattern was determined using antibodies against glial fibrillary acidic protein, synaptophysin and neurofilament protein. Summarizing, typical features of PCH type 2 were present and proved by clinical course, MRI and autopsy. Despite severe symptoms due to a natural disease this rare neurogenetic entity can become of forensic interest, when sudden unexpected death occurs.     

A sandwich enzyme immunoassay for human pancreatic elastase III

To develop a method for the determination of pancreas injuries using a pancreas-specific antigen as a marker, human elastase III was purified from the pancreas by chromatographic methods. A rabbit anti-human elastase III antibody was prepared, and this antibody was confirmed using immunoblotting to react only with elastase III among proteins from the pancreas. A sensitive sandwich enzyme immunoassay for human elastase III was developed. The detection limit for human elastase III was 0.3 pg (10 amol) per assay. Proteins extracted from the pancreas showed the strongest response, whereas reactions of the other organs were less than the detection limit. These results suggest that a sandwich enzyme immunoassay for human elastase III is useful for the determination of pancreas injury.     

Papillary fibroelastoma of the aortic valve: a sudden death case of coronary embolism with myocardial infarction

Papillary fibroelastoma is a rare benign tumor, occasionally causing angina or sudden death. We report an autopsy case of an aortic valve papillary fibroelastoma with coronary artery embolism. The patient was a 68-year-old Japanese man who had collapsed suddenly in his house. He was a heavy drinker and had a history of liver disease but no notable cardiac event. The autopsy revealed extensive transmural infarction of the inferior wall of the left and right cardiac ventricles. The distal portion of the right coronary artery (segment 4, NYHA) was completely occluded by tumor emboli of the fibroelastoma. At the site of closure of the aortic non-coronary cusp, there was a typical papillary fibroelastoma, which was considered to have originated the coronary embolization.     

Recent developments in cornea transplantation (1997-1999)

Between 1997 and 1999 a steady increase in cornea donations was achieved, but the number of transplantations remained stable because many grafts did not pass quality control. Intermediate organ culture of entire bulbi was examined as a possible solution to reduce post-mortem times and increase suitability for transplantation.     

体外培养FBs损伤模型的建立及细胞免疫组化研究

首次应用培养人胎肺成纤维细胞 (FBs)损伤模型 ,体外研究创缘FBs合成细胞型纤维连接蛋白 (cellu larfibronectins,cFn)的变化与损伤时间的关系。结果表明 ,损伤使处于静息状态的融合FBs成为具有运动能力和增殖能力的活跃细胞。应用免疫组化ABC法结合图像分析技术 ,观察伤后不同时间创缘FBs内cFn的含量变化。伤后 1h ,可以检测到cFn有变化 ,且在伤后 6h内 ,cFn逐渐增多 ,其变化与损伤时间呈正相关。这对今后应用cFn与损伤时间推断的研究提供了科学依据 ,同时为法医学损伤时间研究开辟了新的途径。     

Human rights and the AIDS crisis: the debate over resources

In his plenary presentation of 11 July 2000 at the XIII International AIDS Conference, Kenneth Roth, the Executive Director of Human Rights Watch, the largest US-based human rights organization, reflects on whether a human-rights perspective can help us confront the AIDS crisis. More specifically, he asks the question whether human rights can help us meet the urgent challenge of securing the vast resources we need for treatment and prevention. Mr Roth believes they can. He argues that human rights are a powerful tool for meeting basic human needs, but that their contribution to the fight against AIDS is not as simple or straightforward as many often assume. In his presentation, he explains why.     

Studying schizophrenia outside the psychiatric setting

Two groups of college students were identified using the MMPI as a screening device: those with normal profiles and those with schizophrenic profiles. All those with previous psychiatric treatment were eliminated. A third group of hospitalized schizophrenics was matched to the first two along lines of age, sex and socioeconomic status. The three groups were then studied via a semistructured interview and compared for the clinical features of hospitalized schizophrenics and for objective enironmental stresses. As predicted, a group of well-functioning, untreated schizophrenics was delineated. The usefulness of the MMPI as a screening device is clarified, and the question of the true prevalence of schizophrenia is discussed. Contrary to prediction, the well-functioning schizophrenics were similar to the hospitalized schizophrenics, not to the normal controls, with regard to objective environmental stresses. The possible meaning of this is discussed considering the concept of subjective environmental stresses.This research is in part supported by USPHS grants MH-18991, MH-19477-01, and State of Illinois 131-13-RD, State of Illinois 218-12-RD.This reasearch is part of an extensive program investigating schizophrenia which is being conducted jointly by the Psychosomatic and Psychatric Institute of Michael Reese Hospital, the Department of Psychiatry, Pritzker School of Medicine, the University of Chicago, and the Illinois State Psychiatric Institute.Received M.D. from Northwestern University. Served psychiatric residency at the Psychosomatic and Psychiatric Institute of Michael Reese Hospital. Main interest is in psychotherapy and psychodynamics of youth.