Responses to acoustic stimuli of units in the auditory cortex of awake squirrel monkeys

Summary The responses of single units in the superior temporal gyrus of awake squirrel monkeys to tone pips, noise, clicks, and frequency-modulated sounds were recorded with extracellular microelectrodes. A majority of the units responded to acoustic stimulation, pure tone pips being the most effective in terms of the percentage of units responding (71%). No simple catalogue of response types could be elicited. Units varied in terms of the combinations of stimuli to which they were responsive, the frequency range over which pure tones were effective, and the temporal pattern of discharge to different frequencies and different types of stimuli. A substantial majority of units gave precise timed responses to the onset or offset of the stimuli, while a few introduced long delays between the stimulus and the response. With regard to the area studied, acoustic units could be found between stereotaxic coordinates A3 and A10, both on the lateral surface of the hemisphere and in the superior temporal plane, as well as in the caudal insular region. No precise tonotopic organization could be discerned.Peter Winter died in a skiing accident in March, 1972.     

Short stature/short limb skeletal dysplasia with severe combined immunodeficiency and bowing of the femora: report of two patients and review.

We report two patients with severe combined immunodeficiency and short stature/short limb skeletal dysplasia. Case 1 presented at birth with rhizomelic shortening of the extremities and bowing of the femora. She developed clinical signs of severe combined immunodeficiency at 13 months and died at 21 months. Case 2 had severe prenatal shortening and bowing of the extremities and a small, malformed chest. Symptoms of severe combined immunodeficiency and severe failure to thrive developed soon after birth and she died at 5 months. The diagnosis of severe combined immunodeficiency in our patients was based on their clinical course and necropsy findings, supported in case 1 by the results of immune function tests. The results of investigation of immune function (immunoglobulins, lymphocyte subpopulations, lymphocyte function) are very variable in this syndrome as in other variants of severe combined immunodeficiency. Bone histopathology in both patients showed grossly irregular costochondral junctions, but normal transition of proliferating to hypertrophic chondrocytes. These cases belong to early lethal type 1 short limb skeletal dysplasia with severe combined immunodeficiency. Review of previously published cases with severe combined immunodeficiency and well documented skeletal findings show eight patients with prenatal onset of bowing and shortening of the extremities and metaphyseal abnormalities. These include two sib pairs concordant for the skeletal changes. In these cases, adenosine deaminase levels were not reported. An additional four published cases with associated adenosine deaminase deficiency had only mild metaphyseal abnormalities, but subsequently showed no linear growth.(ABSTRACT TRUNCATED AT 250 WORDS)     

Alagille syndrome: family studies.

Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incidence of new mutations. To determine more accurately the rate of new mutations and to develop criteria for detecting the disorder in parents we systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmological assessment, and chromosome analysis. Six parents had typical anomalies in two or more systems pointing to the presence of autosomal dominant inheritance. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counselling.     

Client choice of treatment and client outcomes

Participants in this study suffered from severe mental illness and were homeless at baseline. They were given their choice of five different treatment programs. The current study investigated two major questions: (1) what is the impact of positive expectancies about the efficacy of the chosen program on number of contacts with the chosen program and client outcomes; and (2) what is the impact of positive views about nonchosen programs (alternative choice variables) on contact with the chosen program and client outcomes. Client outcomes assessed were psychotic symptoms, days homeless, and client satisfaction. Positive expectancy variables were the number of reasons for choosing a program and confidence that the program would help. Alternative choice variables were the number of nonchosen programs visited and the attractiveness of a nonchosen program. Only the number of reasons for choosing the program was significantly related to program contact with the chosen program. Both of the positive expectancy variables and program contact were significantly correlated with consumer satisfaction. In general, neither the positive expectancy variables nor the alternative choice variables predicted changes in psychotic symptoms nor days homeless. © 2003 Wiley Periodicals, Inc. J Comm Psychol 31: 339–348, 2003.     

Epiphyseal dysplasia of the femoral head, mild vertebral abnormality, myopia, and sensorineural deafness: report of a pedigree with autosomal dominant inheritance.

A family is presented with short stature, femoral epiphyseal dysplasia, mild vertebral changes, and sensorineural deafness inherited as an autosomal dominant trait. Myopia and retinal detachment presenting in adult life were also present in some affected members. We suggest that this disorder may be a distinct entity within the spondyloepiphyseal dysplasia group of disorders.     

Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases

Cranial sclerosis with osteopathia striata was diagnosed in four members of a family in three generations. The expression of the gene varied from mild cranial enlargement to cranial abnormality associated with severe Pierre-Robin triad. The disorder was diagnosed prenatally in the most severely affected member of the family from the finding of an increased biparietal diameter of the fetal head on ultrasound examination.     

Die Brauchbarkeit der quantitativen Agglutininabsorption zur Typendifferenzierung bei den Brucellosen des Menschen

Zusammenfassung An Hand von 15 Fällen bakteriologisch gesicherter Brucellosen wird der Nachweis geführt, daß die Methodik der quantitativen Agglutininabsättigung eine serologische Typendifferenzierung zwischen Brucella abortus und Brucella melitensis ermöglicht. Die beschriebene Methode kann routinemäßig in die Brucellosediagnostik eingebaut werden.     

Primary structure of human amphiphysin, the dominant autoantigen of paraneoplastic Stiff--Man syndrome, and mapping of its gene (AMPH) to chromosome 7p13-p14

Amphiphysin is a protein peripherally associated with synapticvesicles. It is expressed in many neurons, certain endocrinecell types, and spermatocytes. Autoantibodies against amphiphysinoccur in patients afflicted with a rare neurologic autoimmunedisease, paraneoplastic Stiff—Man syndrome. To providea basis for the understanding of antl-amphiphysin autolmmunity,we have cloned cDNAs and determined the primary structure ofhuman amphiphysin. Comparison with chicken amphiphysin definesdomains of low and high amino acid sequence conservation. Asa candidate for heritable disorders of the nervous system, endocrinetissues or male fertility, the human amphiphysin gene was mappedto chromosome 7, region p13–p14.     

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3

Genetic linkage studies have indicated that chromosome 14q24.3harbours a major locus for early-onset (onset age <65 years)Alzheimer's disease (AD3). Positional cloning efforts have identifieda novel gene S182 or presenilin 1 as the AD3 gene. We have mappedS182 in the AD3 candidate region between D14S277 and D14S284defined by genetic linkage studies in the two chromosome 14linked, early-onset AD families AD/A and AD/B. We have shownthat S182 is expressed in lymphoblasts and have determined thecomplete cDNA in both brain and lymphoblasts by RT-PCR sequencing.S182 is alternatively spliced in both brain and lymphoblastswithin a putative phosphorylation site located 5' in the codingregion. We identified two novel mutations, Ile143Thr and Gly384Alalocated in, respectively, the second transmembrane domain andin the sixth hydrophilic loop of the putative transmembranestructure of S182. As families AD/A and AD/B have a very similarAD phenotype our observation of two mutations in functionallydifferent domains suggest that onset age and severity of ADmay not be very helpful predictors of the location of putativeS182 mutations.