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1.
BJS Open ; 2(5): 293-300, 2018 Sep.
Article in English | MEDLINE | ID: mdl-30263980

ABSTRACT

BACKGROUND: An institutional registry covering all surgical specialties could be an implementation tool in quality benchmarking between hospitals and aid determination of their cost-effectiveness. The objective of this systematic literature review was to evaluate original articles on existing prospective surgical registries that can be used by single institutions across surgical specialties. METHOD: A systematic review of the literature using PRISMA guidelines was conducted for articles focusing on hospital-wide surgical registries. Single-specialty retrospective registries, non-defined outcome measures or system protocols, and studies not in English were excluded. RESULTS: Five articles were included for analysis. Evaluation of the articles revealed wide methodological heterogeneity in the classification and categorization of complications and data collection methods. CONCLUSION: Ideal surgical quality monitoring systems should be real-time, contain patient-related risk factors, and encompass all surgical specialties. At present, such institutional registries are rarely reported and no consensus exists on their standard definitions and methodology.

3.
Am J Med Genet ; 7(2): 115-22, 1980.
Article in English | MEDLINE | ID: mdl-7193412

ABSTRACT

We describe a 22-year-old woman with primary amenorrhea, bilateral gonadoblastomas, and short stature (148.0 cm), but no other signs of the Ullrich-Turner syndrome. There were three cell lines identified in peripheral blood lymphocytes - 45,X (30%), 46,XY (60%), and 46,X,tan dic(Y) (10%). Cells cultured from gonadal biopsies showed only the 45,X karyotype. However, frozen sections of the biopsies showed frequent single and rare double-Y-chromatin bodies. Lymphocytes were H-Y antigen-negative. This previously undescribed structurally abnormal chromosome probably consists of two Y chromosomes attached end-to-end in a tandem translocation. One of the centromeres forms the primary (functional) constriction, the other being detectable only as C-positive material on each chromatid, so presumably inactive. The discrepancy between the presence of Y-chromatin in frozen sections of the gonads and its absence from karyotype in gonadal cultures is indicative of cell selection in tissue culture. Finally, the case confirms the high risk of gonadoblastoma in women with a Y chromosome, even in the absence of H-Y antigen.


Subject(s)
Mosaicism , Sex Chromosomes/ultrastructure , Translocation, Genetic , Turner Syndrome/genetics , Y Chromosome/ultrastructure , Adult , Dermatoglyphics , Dysgerminoma/genetics , Female , H-Y Antigen/genetics , Humans , Karyotyping , Male , Ovarian Neoplasms/genetics , Sex Chromatin , Turner Syndrome/diagnosis
5.
J Med Genet ; 14(4): 281-3, 1977 Aug.
Article in English | MEDLINE | ID: mdl-926142

ABSTRACT

A 21-year-old woman with a ring-20 chromosome is described. The clinical findings, behaviour problems, epilepsy, and low grade mental retardation are the same as in the 3 cases described earlier. It seems to be justified to speak of a specific ring-20 syndrome.


Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, 19-20 , Epilepsy , Intellectual Disability , Adult , Female , Humans , Syndrome
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