4 research outputs found
Clinical manifestations in 10 female patients with IP: Clinical score analysis.
<p>The score represents the number of clinical manifestations in each organ system.</p><p>Skin defects include: vesicles, pustules, hyperkeratotic lesions, pigmented spots, and hypopigmentation.</p><p>Ocular defects include: refractive errors; nystagmus, strabismus, optic atrophy, and iris pigmentary abnormalities.</p><p>Dental defects include: partial anodontia, dental dystrophy, dental pulp defects, cone/peg shaped teeth, malocclusion, and gingival defects.</p><p>Hair defects include: hair atrophy, alopecia, and wooly hair naevus.</p><p>Nail defects include: ungual dystrophy.</p><p>CNS (central nervous system) defects include: ischemia, seizures, and cerebral atrophy.</p><p>Other defects include: congenital clubfoot, frequent infections, vascular diseases, cranial asymmetry, and breast atrophy.</p
Performance scores of seven educated IP participants with IQs above 70 on reading, writing and mathematics tests.
<p>*<b>pathological performance;</b> # borderline performance; np  =  test not performed.</p><p>Scores for learning abilities are z-scores; pathological performances are defined in accordance with the normative data of the tests.</p
Correlation between WAIS-R scales, learning tests and number of IP symptoms.
<p>The numbers in the table indicate Pearson's correlation coefficients (r).</p><p>*p<0.05;</p><p>**p<0.01 FSIQ: Full scale IQ; VIQ: Verbal IQ; PIQ: Performance IQ.</p
Common conditions of use elements. Atomic concepts for consistent and effective information governance
Myriad policy, ethical and legal considerations underpin the sharing of biological resources, implying the need for standardised and yet flexible ways to digitally represent diverse ‘use conditions’. We report a core lexicon of terms that are atomic, non-directional ‘concepts of use’, called Common Conditions of use Elements. This work engaged biobanks and registries relevant to the European Joint Programme for Rare Diseases and aimed to produce a lexicon that would have generalised utility. Seventy-six concepts were initially identified from diverse real-world settings, and via iterative rounds of deliberation and user-testing these were optimised and condensed down to 20 items. To validate utility, support software and training information was provided to biobanks and registries who were asked to create Sharing Policy Profiles. This succeeded and involved adding standardised directionality and scope annotations to the employed terms. The addition of free-text parameters was also explored. The approach is now being adopted by several real-world projects, enabling this standard to evolve progressively into a universal basis for representing and managing conditions of use.</p