Linkage analysis in juvenile neuronal ceroid lipofuscinosis.

Neuronal ceroid lipofuscinosis (NCL, Batten disease) is an autosomal recessive disease characterized by progressive mental retardation, cortical atrophy, seizures, and retinal degeneration. Several subtypes have been delineated on the basis of age-at-onset and histological characteristics; the most common is the juvenile (JNCL) form. Recently, the gene for JNCL was shown to reside on chromosome 16 through linkage studies to the haptoglobin locus and anonymous DNA markers using numerous European families. We have now examined 8 families from North America with JNCL for linkage to markers in 16q21-23. Results in 3 families tend to support linkage to chromosome 16;3 families remained uninformative, and 2 families produced negative lod scores in this region. A test of homogeneity was suggestive, but could not significantly reject the null hypothesis of homogeneity. We are continuing to collect families, particularly those with multiple living affecteds, and are identifying other probes in this region. Given close localization on chromosome 16 for JNCL, molecular strategies, including candidate gene strategies, are being explored.     

Intelligent medical record—Entry (IMR-E)

This paper describes an automated medical record designed to allow providers to enter patient data at the point of care. The system runs on PCs and Macintoshes and uses a graphical user interface and object-oriented programming to take advantage of current mouse and pen technologies. The provider acquires all relevant patient data by pointing and clicking at selections on input screens, many of which contain anatomical drawings to help the provider quickly and accurately describe patient findings. The system also generates a grammatically correct progress note using the problem-oriented structure. Furthermore, items identified in the assessment and plans portion of the program can be ported to expert systems for medical decision assistance or to billing systems. The system allows the provider to obtain the necessary information on a focused patient visit in less than 5 min or to enter a complete history and physical.     

Evaluation of the use of brief screening instruments for dementia, depression and problem drinking among elderly people in general practice.

BACKGROUND. Use of brief screening instruments for detection of psychological morbidity among elderly people is being promoted, although the appropriateness and effectiveness of available instruments have not been evaluated in general practice. AIM. This study set out to determine the outcome of opportunistic use of brief screening instruments for dementia, depression and problem drinking in randomized trials in two group practices in north west London. METHOD. Screening instruments were inserted into a random sample of medical records for people aged 75 years and over in each practice. Medical records of those seen by their general practitioners over a six month period were reviewed for new diagnoses of dementia (or confusion), depression or problem drinking, and the scores obtained on screening instruments noted. The records of all those identified as possibly demented, depressed or drinking heavily were reviewed one year after screening and all relevant referrals and new treatments were noted. RESULTS. In one practice use of screening instruments resulted in a significant increase in the detection of possible dementia, but not of depression. In the second practice screening instruments yielded significantly higher numbers with possible dementia or depression. Heavy drinking was uncommon in either population. There was no difference in the proportions of cases identified by screening instrument or by clinical judgement alone who received treatment or referral. CONCLUSION. These results suggest that in the absence of agreed guidelines and resources, information derived from screening instruments may not alter clinical practice.     

Connections between the cerebellum and hypothalamus in the tree shrew (Tupaia glis)

Following injections of a wheat germ agglutinin-horseradish peroxidase (WGA-HRP) conjugate into representative areas of cerebellar cortex of tree shrew (Tupaia glis) retrogradely labeled cells were found in posterior, lateral and dorsal hypothalamic areas and in the lateral mammillary nucleus. These represent monosynaptic hypothalamocerebellar cortical projections. Anterogradely labeled axons were also traced into various areas of the contralateral hypothalamus subsequent to injections of WGA-HRP into the cerebellar nuclei. These results identify a direct cerebellar nucleohypothalamic pathway. These hypothalamocerebellar and cerebellohypothalamic connections represent potential circuits through which the cerebellum may interact with visceral centers.     

Recurrent nasopharyngeal carcinoma--two long term disease-free remissions with non-cisplatinum based combination chemotherapy

Two cases of locally recurrent nasopharyngeal carcinoma following maximal radiotherapy are presented. Both patients had complete resolution of disease with outpatient combination chemotherapy using Vincristine, Adriamycin and Cyclophosphamide (VAC), and are disease free, and working full time, 3 and 4 years later, respectively. The significant relapse rate of nasopharyngeal carcinoma after initial radiotherapy is outlined, and the reported limitations of radiotherapy and chemotherapy in this situation are discussed. The survival curve for this disease appears to plateau at 2-3 years. This appears to be the first reported outpatient combination chemotherapy programme to produce long term disease-free remission in recurrent disease.     

Behavior predicts genes structure in a wild primate group.

The predictability of genetic structure from social structure and differential mating success was tested in wild baboons. Baboon populations are subdivided into cohesive social groups that include multiple adults of both sexes. As in many mammals, males are the dispersing sex. Social structure and behavior successfully predicted molecular genetic measures of relatedness and variance in reproductive success. In the first quantitative test of the priority-of-access model among wild primates, the reproductive priority of dominant males was confirmed by molecular genetic analysis. However, the resultant high short-term variance in reproductive success did not translate into equally high long-term variance because male dominance status was unstable. An important consequence of high but unstable short-term variance is that age cohorts will tend to be paternal sibships and social groups will be genetically substructured by age.