Noninvasive studies of cerebral metabolism were performed with use of localized proton MR spectroscopy (MRS) in both healthy controls (n = 4, age 6 weeks to 2 years) and infants (n = 4, age 3-15 months) who had impaired peroxisomal functions classified as variants of Zellweger syndrome. All patients revealed a marked decrease of N-acetylaspartate in white and gray matter, thalamus, and cerebell...

In humans, defects in peroxisome biogenesis are the cause of lethal diseases typified by Zellweger syndrome. Here, we show that inactivating mutations in human PEX3 cause Zellweger syndrome, abrogate peroxisome membrane synthesis, and result in reduced abundance of peroxisomal membrane proteins (PMPs) and/or mislocalization of PMPs to the mitochondria. Previous studies have suggested that PEX3 ...

At least 11 complementation groups (CGs) have been identified for the peroxisome biogenesis disorders (PBDs) such as Zellweger syndrome, for which seven pathogenic genes have been elucidated. We have isolated a human PEX19 cDNA (HsPEX19) by functional complementation of peroxisome deficiency of a mutant Chinese hamster ovary cell line, ZP119, defective in import of both matrix and membrane prot...

The reports on familial Down's syndrome (mongolism) date in the medical literature from the 20th years of this century. Familial Down's syndrome is now well-described event but relatively rare. Penrose states that pairs of affected sibs appear about once for every 100 single cases of mongolism collected at random (quoted by Soltan et al. 1964). About two-thirds of the mongoloids are close relat...

PURPOSE The purpose of this study was to compare the linear sintering behavior of presintered zirconia blocks of various densities. The mechanical properties of the resulting sintered zirconia blocks were then analyzed. MATERIALS AND METHODS Three experimental groups of dental zirconia blocks, with a different presintering density each, were designed in the present study. Kavo Everest® ZS bla...

Citation: Barzilay S, Yaseen ZS, Hawes M, Gorman B, Altman R, Foster A, Apter A, Rosenfield P and Galynker I (2018) Emotional Responses to Suicidal Patients: Factor Structure, Construct, and Predictive Validity of the Therapist Response Questionnaire-Suicide Form. Front. Psychiatry 9:104. doi: 10.3389/fpsyt.2018.00104 emotional responses to suicidal Patients: Factor structure, construct, and Pr...

1 Rosancff, A. J., and Florence Orr, A study of insanity in the light of the Mendelian theory, Amer. J. Insanity, 68, 221-261 (1911), also Eugenics Record Ofice BsU., No. 5. 2 Ridin, E., Einige Wege und Ziele der Familienforschung, mit Rucksicht auf die Psychiatrie, Zs. ges. Neurol. Psychiat., 7 (Hft. 5), 487-585 (1911). 8 Galton, F., History of Twins, in Inquiries into human faculty and its de...

A. Ornelas†a, D. Galaviza, Zs. Fülöpb, Gy. Gyürkyb, G. Kissb, Zs. Mátéb, P. Mohrc, T. Rauscherd, E. Somorjaib, K. Sonnabende and A. Zilges f aCentro de Física Nuclear, University of Lisbon, 1649-003 Lisbon, Portugal bATOMKI, H-4001 Debrecen, POB. 51, Hungary cDiakonie-Klinikum, D-74523 Schwäbisch Hall, Germany dDepartement für Physik und Astronomie, Universität Basel, CH-4056 Basel, Switzerland...