We report a large inbred kindred from Oman with a distinct type of spondyloepiphyseal dysplasia (SED). We evaluated eight individuals from two consanguineous sibships, one male and seven females between the ages of 2 and 22. The pedigrees strongly suggest autosomal recessive inheritance and both families are likely to be related through distant consanguineous loops. The clinical features include near to normal length at birth, short stature with final height of 110-130 cm, shortening of the upper segment due to severe progressive kyphoscoliosis, severe arthritic changes with joint dislocations, rhizomelic limbs, genu valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence. Minor radiographic metaphyseal changes were found, but major manifestations were in the spine and the epiphyses. During the first year of life the vertebral bodies are of normal height but the endplates are irregular and intervertebral space is narrow. With age, the vertebral endplates become increasingly irregular, the intervertebral space diminishes further and individual vertebrae start to fuse resulting in a severe short trunk dwarfism with kyphoscoliosis. The epiphysis are small and precocious osteoarthropathy was observed involving small and large joints. The elbow, wrist, and hip joints were affected starting in infancy and showed restricted movement. Osteoarthropathy and spinal involvement resulted in physical handicap in early adulthood. Comparison of these patients with other skeletal dysplasias suggests that they represent a previously undescribed variant of SED.
Objective The attitudes about the usage of artificial intelligence in healthcare are controversial. Unlike the perception of healthcare professionals, the attitudes of patients and their companions have been of less interest so far. In this study, we aimed to investigate the perception of artificial intelligence in healthcare among this highly relevant group along with the influence of digital affinity and sociodemographic factors. Methods We conducted a cross-sectional study using a paper-based questionnaire with patients and their companions at a German tertiary referral hospital from December 2019 to February 2020. The questionnaire consisted of three sections examining (a) the respondents’ technical affinity, (b) their perception of different aspects of artificial intelligence in healthcare and (c) sociodemographic characteristics. Results From a total of 452 participants, more than 90% already read or heard about artificial intelligence, but only 24% reported good or expert knowledge. Asked on their general perception, 53.18% of the respondents rated the use of artificial intelligence in medicine as positive or very positive, but only 4.77% negative or very negative. The respondents denied concerns about artificial intelligence, but strongly agreed that artificial intelligence must be controlled by a physician. Older patients, women, persons with lower education and technical affinity were more cautious on the healthcare-related artificial intelligence usage. Conclusions German patients and their companions are open towards the usage of artificial intelligence in healthcare. Although showing only a mediocre knowledge about artificial intelligence, a majority rated artificial intelligence in healthcare as positive. Particularly, patients insist that a physician supervises the artificial intelligence and keeps ultimate responsibility for diagnosis and therapy.
Eighty-five patients with widespread psoriasis were treated with daily short-term applications of dithranol and salicylic acid in yellow soft paraffin. Two different schedules were used: (1) '3-h' therapy using increasing dithranol concentrations (o.I, o.25, o.5, I, 2%) for 3 h; (2) 'minutes' therapy using high dithranol concentrations (I, 2, 3%) for only 10-20 min. In comparison with the standard dithranol therapy, applied for 24 h each day, the '3-h' therapy showed equal efficacy clinically and histologically, and the 'minutes' therapy was significantly better than the standard therapy, reducing the mean clearing time by 6.8 days. Daily short-term ('minutes') therapy combines all the advantages of dithranol with a convenient and readily acceptable mode of application for home use.
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