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Two patients were lost from follow-up at 1 year, one of them did not want to participate and for the other, the examination failed due to technical problems.
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Despite this, some of the examinations failed because the shoulder joint was not adequately visualized or the arch of motions was too small due to poor synchronization between the film exchangers and the patient.
The pedigree examination failed to identify a close common ancestor for the parents of case DK 1. Remote shared ancestors were found in generation 7 or earlier and these were also shared with the dam of case DK2, but interpretation of such findings in relation to transmission of a mutant allele is uncertain.
Interval DCIS was classified as DCIS detected within the two-year interval between two subsequent screening rounds, when the earlier examination failed to reveal an abnormality.
Patients with DCIS that had been detected within the two-year interval between two subsequent screening rounds were classified as interval patients, when the earlier examination failed to reveal an abnormality (n = 20).
Regarding the control subjects, microscopic examination failed to detect significant degenerative changes in any of the control brains, except for a limited cerebral amyloid angiopathy, if present at all, and the sporadic presence of some neurofibrillary (pre tangles or diffuse senile plaques, all of which were considered age-related.
Screen-detected DCIS was classified as DCIS detected by screening mammography, when the two-year earlier examination failed to reveal an abnormality.
Further, immunohistochemical examination failed to detect the PilC mutant in the epithelial cell layer, although minor amounts were detected in the submucosa (Figure 5B, lower panel).
In the two discordant cases, electromyographic examination failed to show any myogenic component, whereas muscle histology suggested severe myopathy with necrotic fibres and vacuolization zones.
A post-mortem examination failed to establish the cause of death.
Dermatological examination failed to unfold other skin lesions, except the one on the face strictly related to the patient's age.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com