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Prenatal diagnosis for Schmid metaphyseal chondrodysplasia in twins.

We report prenatal diagnostic studies for metaphyseal chondrodysplasia of the Schmid type. Identification of a specific COL10A1 gene mutation in an affected father allowed prenatal diagnosis by chorionic villus sampling in a twin pregnancy. Neither of the nonidentical twins received the abnormal COL10A1 gene from their affected father. This result was confirmed by postnatal DNA analysis. Prenatal diagnosis can be offered to all families with characterized COL10A1 gene mutations.

Chorionic Villi Sampling↗

PubMedDate not supplied

Distressful events in the ICU as perceived by patients recovering from coronary artery bypass surgery.

OBJECTIVE: To determine what events are perceived as most stressful to patients in the surgical intensive care unit (SICU). DESIGN: Descriptive cross-sectional survey. PATIENTS: One hundred twenty-seven patients who had undergone coronary artery bypass graft (CABG) at 48 hours after their transfer from the SICU. OUTCOME MEASURE: Stressful events as perceived by patients while in the SICU determined by 25 specific items on a questionnaire rated on a Likert scale ranging from 1 (no distress) to 4 (extremely distressful). RESULTS: Two stressors, being intubated and not being able to talk, were significantly more stressful, by Newman-Keuls multiple range test, than all the other stressors. The mean stressfulness score for all other stressors was between no distress and mild distress. CONCLUSION: Overall stress associated with specific events during a short stay in the SICU was minimal. Intubation and inability to communicate were the most stressful experiences.

Adult↗