The Use of Medical Record Linkage for Population and Genetic Studies

1969 ◽  
Vol 08 (01) ◽  
pp. 07-11 ◽  
Author(s):  
H. B. Newcombe
Keyword(s):  
Record Linkage ◽  
Large Scale ◽  
Medical Record Linkage ◽  
Canadian Province ◽  
Genetic Studies ◽  
Parental Characteristics ◽  
Family Histories ◽  
The Family ◽  
Large Populations ◽  
Machine Readable

Methods are described for deriving personal and family histories of birth, marriage, procreation, ill health and death, for large populations, from existing civil registrations of vital events and the routine records of ill health. Computers have been used to group together and »link« the separately derived records pertaining to successive events in the lives of the same individuals and families, rapidly and on a large scale. Most of the records employed are already available as machine readable punchcards and magnetic tapes, for statistical and administrative purposes, and only minor modifications have been made to the manner in which these are produced.As applied to the population of the Canadian province of British Columbia (currently about 2 million people) these methods have already yielded substantial information on the risks of disease: a) in the population, b) in relation to various parental characteristics, and c) as correlated with previous occurrences in the family histories.

A Family With Autosomal-Dominant Progressive Sensorineural Hearing Loss

1996 ◽  
Vol 5 (1) ◽  
pp. 23-32 ◽  
Author(s):  
Chris Halpin ◽  
Barbara Herrmann ◽  
Margaret Whearty
Keyword(s):  
Speech Production ◽  
Hearing Aids ◽  
Role Models ◽  
Speech Intelligibility ◽  
Large Scale ◽  
Speech Language Pathology ◽  
The Family ◽  
Patient Will ◽  
Language Pathology

The family described in this article provides an unusual opportunity to relate findings from genetic, histological, electrophysiological, psychophysical, and rehabilitative investigation. Although the total number evaluated is large (49), the known, living affected population is smaller (14), and these are spread from age 20 to age 59. As a result, the findings described above are those of a large-scale case study. Clearly, more data will be available through longitudinal study of the individuals documented in the course of this investigation but, given the slow nature of the progression in this disease, such studies will be undertaken after an interval of several years. The general picture presented to the audiologist who must rehabilitate these cases is that of a progressive cochlear degeneration that affects only thresholds at first, and then rapidly diminishes speech intelligibility. The expected result is that, after normal language development, the patient may accept hearing aids well, encouraged by the support of the family. Performance and satisfaction with the hearing aids is good, until the onset of the speech intelligibility loss, at which time the patient will encounter serious difficulties and may reject hearing aids as unhelpful. As the histological and electrophysiological results indicate, however, the eighth nerve remains viable, especially in the younger affected members, and success with cochlear implantation may be expected. Audiologic counseling efforts are aided by the presence of role models and support from the other affected members of the family. Speech-language pathology services were not considered important by the members of this family since their speech production developed normally and has remained very good. Self-correction of speech was supported by hearing aids and cochlear implants (Case 5’s speech production was documented in Perkell, Lane, Svirsky, & Webster, 1992). These patients received genetic counseling and, due to the high penetrance of the disease, exhibited serious concerns regarding future generations and the hope of a cure.

Marguerite Wood and Margaret Simpson, two pioneering Scottish women

2019 ◽  
Vol 41 (1) ◽  
pp. 108-118
Author(s):  
David J. Breeze ◽  
Rosalind K. Marshall ◽  
Ian Ralston
Keyword(s):  
Family Histories ◽  
The Family ◽  
Ancient Monuments

In the 1920s and 1930s Marguerite Wood and Margaret Simpson collaborated with James Richardson, Inspector of Ancient Monuments for Scotland, in writing guide-books to several medieval monuments in state care. The involvement of women in such activities was unusual for the time. The family histories and careers of these two pioneering Scottish women are investigated in order to explain their participation, and their activities are placed in the wider context of the emerging professionalism of women in history and archaeology in Scotland at this time.

scholarly journals CFTR Lifecycle Map—A Systems Medicine Model of CFTR Maturation to Predict Possible Active Compound Combinations

2021 ◽  
Vol 22 (14) ◽  
pp. 7590
Author(s):  
Liza Vinhoven ◽  
Frauke Stanke ◽  
Sylvia Hafkemeyer ◽  
Manuel Manfred Nietert
Keyword(s):  
Large Scale ◽  
Synergistic Effects ◽  
Small Scale ◽  
Systems Medicine ◽  
Promising Candidate ◽  
Cftr Mutations ◽  
Machine Readable ◽  
High Throughput Screens ◽  
Readable Format ◽  
Machine Readable Format

Different causative therapeutics for CF patients have been developed. There are still no mutation-specific therapeutics for some patients, especially those with rare CFTR mutations. For this purpose, high-throughput screens have been performed which result in various candidate compounds, with mostly unclear modes of action. In order to elucidate the mechanism of action for promising candidate substances and to be able to predict possible synergistic effects of substance combinations, we used a systems biology approach to create a model of the CFTR maturation pathway in cells in a standardized, human- and machine-readable format. It is composed of a core map, manually curated from small-scale experiments in human cells, and a coarse map including interactors identified in large-scale efforts. The manually curated core map includes 170 different molecular entities and 156 reactions from 221 publications. The coarse map encompasses 1384 unique proteins from four publications. The overlap between the two data sources amounts to 46 proteins. The CFTR Lifecycle Map can be used to support the identification of potential targets inside the cell and elucidate the mode of action for candidate substances. It thereby provides a backbone to structure available data as well as a tool to develop hypotheses regarding novel therapeutics.

Learning from tragedy–The Jessica Barnett story: challenges in the diagnosis of long QT syndrome

Diagnosis ◽  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Mark L. Graber ◽  
Andrew P. J. Olson ◽  
Tanya Barnett
Keyword(s):  
Anxiety Disorder ◽  
Long Qt Syndrome ◽  
Adolescent Girl ◽  
Ventricular Cardiomyopathy ◽  
Long Qt ◽  
Genetic Studies ◽  
The Family ◽  
Qt Syndrome ◽  
Hyperventilation Test ◽  
Congenital Long Qt Syndrome

Abstract We describe the case of Jessica Barnett, an adolescent girl whose repeated episodes of syncope and near-syncope were ascribed to a seizure or anxiety disorder. The correct diagnoses (congenital long QT syndrome; arrythmogenic right ventricular cardiomyopathy) were established by autopsy and genetic studies only after her death at age 17. The perspective of the family is presented, along with an analysis of what went right and what went wrong in Jessica’s diagnostic journey. Key lessons in this case include the value of family as engaged members of the diagnostic team, that a ‘hyperventilation test’ should not be used to exclude cardiac origins of syncope or pre-syncope, and the inherent challenges in the diagnosis of the long QT syndrome.

High-throughput quantification of the mechanical competence of murine femora — A highly automated approach for large-scale genetic studies

Bone ◽  
2013 ◽  
Vol 55 (1) ◽  
pp. 216-221 ◽  
Author(s):  
D. Ruffoni ◽  
T. Kohler ◽  
R. Voide ◽  
A.J. Wirth ◽  
L.R. Donahue ◽  
...  
Keyword(s):  
High Throughput ◽  
Large Scale ◽  
Genetic Studies

FAMILY TENSION AS A CAUSE OF COLIC IN INFANTS

PEDIATRICS ◽  
1956 ◽  
Vol 18 (5) ◽  
pp. 835-836
Author(s):  
John C. Cobb
Keyword(s):  
Family History ◽  
Allergic Disease ◽  
Family Members ◽  
Clinical Impression ◽  
Family Histories ◽  
The Family

A study of colic in infancy was undertaken as part of the Yale Rooming-In Project. The longitudinal records of 98 infants who were study subjects were analyzed with respect to incidence, duration, and severity of colic. Forty-eight of the infants were classified as fussy or colicky and 50 as contented. Because I had formed the clinical impression that allergy was an important contributing factor in the causation of colic, careful family histories were taken for all of these infants with particular attention to allergic disease in any member of either parent's family. An adequate family history was obtained in 95 of these infants. These data were analyzed both according to the incidence of allergic disease and according to the severity of allergic disease in family members. Among the relatives of the 45 "fussy" or "colicky" infants 7.3 per cent had severe allergy, 17.7 pen cent had mild allergy and 74 per cent had little or no allergy. Among the relatives of the 50 contented infants 7.6 per cent had severe allergy, 14.7 per cent had mild allergy and 77 per cent had no allergy. The family histories included a total of 957 relatives. The 45 families of the babies who were fussy or colicky were divided as follows as to amount of allergy among the relatives. In 7 families there was much allergy, in 30 families there was some allergy and in 8 families there was little or no allergy. The [See Table I in Source PDF] families of the 50 contented infants were divided as follows, in 7 families there was much allergy, in 33 there was some allergy and in 10 there was little on no allergy.

CULTIVATING THE FAMILY

PEDIATRICS ◽  
1975 ◽  
Vol 55 (5) ◽  
pp. 639-639
Author(s):  
Lewis Mumford
Keyword(s):  
Family Tree ◽  
Family Histories ◽  
The Family

The culture of the family requires time, patience, and fuller participation by all its members; and for its personal sustenance, interest must be awakened on its spiritual side: its history and biography. The antiquarian search for a family tree is too often the lowest snobbism; but the actual planting and cultivating of the family tree is a different matter. That is worthy of everyone's highest skill and immediate attention. . . . So for us the widespread keeping of family records is at least mechanically an easy job: spiritually it will require immense effort, before we pour into the work all the love and skill that it demands. The writing of journals, psychological records, and family histories beginning with the here and now should be one of the most grateful tasks for parents: the gathering of souvenirs, memorabilia, drawings, the recording of anecdotes and stories—all these things will build up that past which will form a bridge, over the most turbid autumnal torrent, to a firmer, finer future.

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