Hermansky-Pudlak syndrome: albinism with lipofuscin storage

The Hermansky-Pudlak Syndrome, a tyrosinase positive form of oculocutaneous albinism, is a triad comprising albinism, a hemorrhagic diathesis and ceroid-lipofuscin storage. A pedigree is presented showing consanguinity with a pattern of pseudodominance.Electroretinography in two isolated Hermansky-Pudlak subjects was distinctly abnormal, showing decreased rod and cone responses (as well as abnormal flicker fusion responses) in one patient, and reduced photopic and scotopic responses in another. The decreased ERG responses are discussed with reference to the known retinal abnormalities in both generalized oculocutaneous albinism and Batten's disease, another ceroidlipofuscin storage disorder.     

The impact of anticipation of job loss on psychological distress and worksite blood pressure.

The impact of occupational stressful life events on psychological distress and blood pressure was examined among employees of a major New York City brokerage firm undergoing massive layoffs. One hundred thirty-nine employees of the firm, who had participated in a blood pressure screening in 1986, were rescreened during the period of layoffs within their company in 1989. About two-thirds of the 139 employees reported being "somewhat" or "very" anxious or upset in 1989 during the period of layoffs, and psychological distress was significantly elevated among those employees reporting possible or definite layoff or job change and/or difficulty in obtaining a comparable job. However, we found no increase in overall blood pressure level, and no effect of anticipation of job loss on 1989 blood pressure when controlling for 1986 blood pressure level, age, body mass index, work hours, and other demographic variables. On the other hand, employment in a department sold to another employer on the day of screening, as well as employment in a clerical job title, were both associated with significant increases in diastolic blood pressure of about 5 mm Hg.     

Personal pronouns and the autistic child

The long-recognized difficulties of the speaking autistic child with the use and nonuse of personal pronouns [reversals and avoidance] have been generally attributed either to the nondifferentiation of the self or to the frequently coexisting symptom of echolalia. These explanations are reconsidered in this eclectic analysis from the perspective of current theory and research in development of self and of language. Emphasis is on studies of normal development of personal pronouns and the roles played in that process by listening, echoic memory, mitigated echolalia [recoding], and person deixis. It is concluded that multiple developmental obstacles of a social, cognitive, and grammatical nature underlie the more obvious symptoms and militate against the child's resolution of labels and their referents. Treatment alternatives that deemphasize the primacy of Iare offered.