Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome.
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Acrocephalosyndactylia↗
Biomedical subjects
M Hudler
Publications and source records attributed to M Hudler.
Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome.
Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including ptosis, facial asymmetry, and prominent ear crura. Previously, we identified a yeast artificial chromosome that encompassed the breakpoint of an apparently balanced t(6;7) (q16.2;p15.3) translocation associated with a mild form of Saethre-Chotzen syndrome. We now describe, at the DNA sequence level, the region on chromosome 7 affected by this translocation event. The rearrangement occurred approximately 5 kb 3' of the human TWIST locus and deleted 518 bp of chromosome 7. The TWIST gene codes for a transcription factor containing a basic helix-loop-helix (b-HLH) motif and has recently been described as a candidate gene for Saethre-Chotzen syndrome, based on the detection of mutations within the coding region. Potential exon sequences flanking the chromosome 7 translocation breakpoint did not hit known genes in database searches. The chromosome rearrangement downstream of TWIST is compatible with the notion that this is a Saethre-Chotzen syndrome gene and implies loss of function of one allele by a positional effect as a possible mechanism of mutation to evoke the syndrome.
Acrocephalosyndactylia↗
Interprofessional collaboration: who is doing it? Who isn't?
A questionnaire about practice in the area of physician-educator collaboration and behavioral-developmental pediatrics was obtained from 239 California primary care pediatricians. The survey examined the characteristics of physicians who do and do not collaborate, as well as their perceptions of the advantages of and barriers to interprofessional collaborations. The results indicated that, whereas most (88%) respondents indicate that communication among educators and physicians is sometimes or frequently useful when patients have behavioral, developmental, and chronic health disorders, only 17% actually communicate frequently by telephone or meeting with educators. The characteristics of physicians who collaborate the most frequently include factors such as small groups or solo practices in rural areas, use of routine developmental screening, training in working with teachers, training in behavioral and developmental pediatrics, and higher estimates of the number of patients with behavioral and developmental disorders in their practice. The relationship between physician characteristics and frequency of collaboration is analyzed and discussed. Physicians' perceptions of the collaboration process and suggestions for improving collaboration are discussed.
Attitude of Health Personnel↗
A community model for physician, educator, and parent collaboration for management of children with developmental and behavioral disorders.
This article describes a model for physician, educator, and parent collaboration in the management of children with developmental and behavioral disorders. The results of implementing the model with 256 professionals and parents of developmentally disabled children are described and discussed. The benefits of using the model in school districts and/or communities seeking to improve interprofessional collaboration and work with families are presented. The model has been demonstrated to be effective in producing practical solutions for improving collaboration that is relevant to local community barriers and based on input from physicians, educators, and parents.
Child↗
Physician/school teacher collaboration. Some practical considerations.
Physician/school teacher collaboration is crucial if exceptional students are to receive appropriate educational services mandated by Public Law 94-142 and Public Law 99-457. There is little in the professional literature to guide physicians who may be interested in working more closely with school personnel. The present article provides specific suggestions and recommendations to private practitioners for initiating and managing interprofessional collaboration with school personnel.
Child↗