Ondine curse and neurocristopathy

Two newborns, 1 male and 1 female, had both Ondine curse, also known as congenital, central hypoventilation syndrome, and Hirschsprung disease. Both infants demonstrated insufficient respiration while asleep and normal respiration when awake. The lesser affected child had an otherwise normal neurologic examination, but suffered from seizures. He died at 18 months of age; neuropathologic examination of the brain was unremarkable. The girl had a severe and ultimately fatal form of this disorder and manifested a variety of neurologic abnormalities indicative of developmental failure of the neural crest-derived tissues. These abnormalities included unreactive pupils and deafness. She died at 40 days of age; autopsy permission was denied. The etiology of sleep apnea is not known. Mechanisms of central integration may be abnormal but the association with neural crest maldevelopment implicates the peripheral nervous system.     

Treatment of duplicated thumb using a ligamentous/periosteal flap

Since 1975, 22 duplicated thumbs in 21 children were treated by ablation of one of the digits, elevation of a ligament and periosteal flap from the proximal bone, reduction osteotomy to narrow the widened proximal bone, centralization of the retained thumb, and stabilization of the joint by reattaching the ligament and periosteal flap. In addition to improving the cosmetic appearance by centralizing the retained thumb on the narrowed proximal bone, good joint stability was provided. Three patients had subsequent joint arthrodesis because of laxity of the contralateral collateral ligament. The procedure is preferred to the reconstruction of a single digit by using component parts of both duplicated thumbs because the described procedure is technically simpler and does not potentially interfere with physeal growth or leave a nail matrix defect.     

Controlling for occasion-specific effects when assessing the test–retest reliability of self-report health questionnaires

OBJECTIVE: This study proposes a method for self-report health questionnaires to adjust test-retest reliability for changes during the test-retest interval based on an external measure, and to distinguish such changes from random response errors. METHODS: In our application, eighty participants completed the Symptoms of Illness Checklist (SIC) on two occasions, two weeks apart, immediately before interviews given on each occasion by one of two physicians in a crossover design. The physician interview scores served as external measures, and structural equation modeling was used to estimate the parameters of a model that corrected for the occasion-specific effect of participants' responses using information from the interviews. RESULTS: Correcting for changes in symptoms during the test-retest interval increased SIC test-retest reliability from .744 to .804 and significantly improved model fit (chi2(diff)(1) = 30.78, p < .001). CONCLUSIONS: The results suggest methods that can improve the evaluation of self-report health questionnaire test-retest reliability by identifying changes using an external measure, and distinguishing these from random response errors; these increased the estimated SIC test-retest reliability and indicated that the SIC was indeed able to measure changes over the studied time interval. This method can be applied across a broad range of questionnaires.