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1.  A randomised trial of weekend and evening breast screening appointments 
British Journal of Cancer  2013;109(3):597-602.
There is a need to research interventions that improve access to and convenience of breast cancer screening services.
We conducted a randomised trial comparing invitations to out-of-hours appointments with standard office hour appointments. Women who were to be invited for routine breast screening were randomised (3 : 1 : 1 : 1) to one of these screening invitations: standard office hour appointment, office hour appointment with the option to change to an out-of-hours appointment, weekday evening appointment, or weekend appointment.
A total of 9410 women were invited to an office hour, 3519 to an office hour with the option to change, 3271 to a weekday evening, and 3162 to a weekend appointment. The offer of an initial out-of-hours appointment was associated with a non-significant decrease in attendance rates (73.7% vs 74.1%). The highest attendance was observed in the group offered an initial office hour appointment with the option to change to out-of-hours (76.1% vs 73.3% for standard office hour, P=0.001), with 7% of invitees exercising the option to change.
The optimum strategy for improving attendance at breast screening is to offer a traditional office hour appointment and including in the letter of invitation an option to change to an evening or weekend appointment if wished.
PMCID: PMC3738129  PMID: 23867998
mammography; breast cancer; breast screening; attendance; evening appointment; weekend appointments
3.  A linkage study of a large pedigree with X linked centronuclear myopathy. 
Journal of Medical Genetics  1990;27(5):281-283.
Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.
PMCID: PMC1017075  PMID: 2352255
4.  Unilateral absence of the hand in second cousins. 
Journal of Medical Genetics  1989;26(3):190-192.
This paper reports two second cousins with absence of the left hand.
PMCID: PMC1015581  PMID: 2709395

Results 1-4 (4)