Linkage of chromosome 13q32 to schizophrenia in a large veterans affairs cooperative study sample

Several prior reports have suggested that chromosomal region 13q32 may harbor a schizophrenia susceptibility gene. In an attempt to replicate this finding, we assessed linkage between chromosome 13 markers and schizophrenia in 166 families, each with two or more affected members. The families, assembled from multiple centers by the Department of Veterans Affairs Cooperative Studies Program, included 392 sampled affected subjects and 216 affected sib pairs. By DSM-III-R criteria, 360 subjects (91.8%) had a diagnosis of schizophrenia and 32 (8.2%) were classified as schizoaffective disorder, depressed. The families had mixed ethnic backgrounds. The majority were northern European-American families (n = 62, 37%), but a substantial proportion were African-American kindreds (n = 60, 36%). Chromosome 13 markers, spaced at intervals of approximately 10 cM over the entire chromosome and 2-5 cM for the 13q32 region were genotyped and the data analyzed using semi-parametric affected only linkage analysis. For the combined sample (with race broadly defined and schizophrenia narrowly defined) the maximum LOD score was 1.43 (Z-score of 2.57; P = 0.01) at 79.0 cM between markers D13S1241 (76.3 cM) and D13S159 (79.5 cM). Both ethnic groups showed a peak in this region. The peak is within 3 cM of the peak reported by Brzustowicz et al. [1999: Am J Hum Genet 65:1096-1103].     

Report of a child with aortic aneurysm,orofacial clefting,hemangioma, upper sternal defect,and Marfanoid features: Possible PHACE syndrome

We report a female patient who had a scalp hemangioma, a cleft uvula, an upper sternal defect, pectus excavatum, arachnodactyly, pes planus, and joint hypermobility. She had rupture of an aortic aneurysm after minor trauma at 11 years of age. At 17 years of age, elective repair of a dilated, ectatic aorta was complicated by cerebral ischemia. Other vascular abnormalities in the proband included an aneurysm of the left subclavian artery, atresia of the right carotid artery, and calcified cerebral aneurysms. We believe that the proband's physical anomalies are best described by the PHACE (posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) phenotypic spectrum. This spectrum of physical anomalies also includes sternal clefting and hemagiomas as part of the sternal malformation/vascular dysplasia (SM/VD) association, as found in our patient, and the acronym PHACES has also been used. We consider that the PHACE phenotypic spectrum is likely to be broader than previously recognized and includes orofacial clefting and aortic dilatation and rupture. Our patient also had skeletal anomalies that lead to consideration of Marfan syndrome as a diagnosis. It should be recognized that there is clinical overlap between PHACE syndrome and Marfan syndrome when aortic dilatation is present. We would also like to emphasize the minor nature of the cutaneous findings in our patient despite her severe vascular complications. This is in contrast to previous reports of large or multiple hemangiomas in PHACE syndrome. Published 2002 Wiley‐Liss, Inc.     

Contribution to the problem of giant cell astrocytomas

Histological, immunocytochemical, and biological features of 38 giant cell gliomas were investigated. The invasion of these tumors and its giant cells by histiocytes, lymphocytes, plasma cells, and especially by eosinophilic granulocytes is viewed as an immune response, which may explain a favorable clinical course. Fifty-three percent of the patients were younger than 45 years at the time of surgery. The average postoperative survival of 27.4 months was clearly longer than in glioblastoma. These biological features suggest a differentiation from glioblastoma multiforme. The classification of this entity as "monstrocellular astrocytoma" is proposed.     

Biochemical Binding and Distribution of Protactinium-233 in the Rat

Summary

Following intravenous injection into male Sprague–Dawley rats ²³³Pa, like other elements, deposits predominantly in the skeleton (ca. 70–80 per cent), but unlike Pu and Am the liver deposition of ²³³Pa is low, about 2–3 per cent between 1 and 7 days. About 99 per cent of the injected ²³³Pa is lost from the plasma compartment in 3 days, a clearance comparable to that of Pu but much slower than that of Np, Am or Cm. On entering the liver cell cytosol ²³³Pa is bound rapidly to an unidentified protein of molecular mass 200 kDa and to a protein of 80 kDa, which is probably transferrin. Within a few hours the metal migrates to bind to a protein of > 400 kDa which has been tentatively identified as ferritin. Some ²³³Pa remains bound to small ligands until virtually all the intracellular ²³³Pa has been deposited in the lysosomes, or to a lesser extent in some other, as yet, unidentified organelles.     

Measuring the polymerization stress of self-adhesive resin composite cements by crack propagation

Clinical Oral Investigations - To test the polymerization stress of nine self-adhesive resin composite cements (G-CEM, iCEM, Bifix SE, Maxcem Elite, PANAVIA SA, SoloCem, SmartCem 2, SpeedCEM, RelyX...