Craniofacial distraction osteogenesis: a review of 3278 cases

The nascent field of craniofacial distraction osteogenesis has not yet been subjected to a rigorous evaluation of techniques and outcomes. Consequently, many of the standard approaches to distraction have been borrowed from the experience with long bones in orthopedic surgery. The ideal "latency period" of neutral fixation, rate and rhythm of distraction, and consolidation period have not yet been determined for the human facial skeleton. In addition, because the individual craniofacial surgeon's experience with distraction has generally been small, outcomes and meaningful complication rates have not yet been published.In this study, a four-page questionnaire was sent to 2476 craniofacial and oral/maxillofacial surgeons throughout the world, asking about their experiences with distraction osteogenesis. Information about the types of cases, indications for surgery, surgical techniques, postoperative management, outcomes, and complications were tabulated. Of 274 respondents (response rate, 11.4 percent), 148 indicated that they used distraction in their surgical practice. One hundred forty-five completed surveys were entered into a database that provided information about 3278 craniofacial distraction cases. Statistical analyses were performed comparing the rates of premature consolidation, fibrous nonunion, and nerve injury, on the basis of the use of a latency period and different rates and rhythms of distraction. In addition, the rates of all complications were determined and compared on the basis of the number of distraction cases performed per surgeon.The results of the study clearly show a wide variation in the surgical practice of craniofacial distraction osteogenesis. Although the cumulative complication rate was found to be 35.6 percent, there is a pronounced learning curve, with far fewer complications occurring among more experienced surgeons (p < 0.001). The presence of inferior alveolar nerve injury as a result of mandibular distraction was much lower for respondents whose distraction regimens consisted of no more than 1 mm of distraction per day (19.5 percent versus 2.4 percent; p < 0.001). No evidence was found to support the use of a latency period or to divide the daily distraction regimen into more than one session per day. Conclusions could not be drawn from this study regarding the length of the consolidation period. Overall, the surgeon-reported outcomes are comparable with those published for other craniofacial procedures, despite the higher incidence of complications.Although conclusions made on the basis of a subjective questionnaire need to be interpreted cautiously, this study has strength in the large numbers of cases reviewed. Because of the anonymity of responses, it has been assumed that surgeons who responded to the survey reported accurate numbers of complications and successful outcomes. Finally, additional clinical and animal studies that will be of benefit in advancing the field of craniofacial distraction osteogenesis are outlined.     

Evidence for an early evolutionary emergence of γ-type carbonic anhydrases as components of mitochondrial respiratory complex I

Background  

The complexity of mitochondrial complex I (CI; NADH:ubiquinone oxidoreductase) has increased considerably relative to the homologous complex in bacteria. Comparative analyses of CI composition in animals, fungi and land plants/green algae suggest that novel components of mitochondrial CI include a set of 18 proteins common to all eukaryotes and a variable number of lineage-specific subunits. In plants and green algae, several purportedly plant-specific proteins homologous to γ-type carbonic anhydrases (γCA) have been identified as components of CI. However, relatively little is known about CI composition in the unicellular protists, the characterizations of which are essential to our understanding of CI evolution.     

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Background

Neurofibromatosis 1 (NF1), a common autosomal dominant disorder, was shown in one study to be associated with a 15-year decrease in life expectancy. However, data on mortality in NF1 are limited. Our aim was to evaluate mortality in a large retrospective cohort of NF1 patients seen in France between 1980 and 2006.

Methods

Consecutive NF1 patients referred to the National French Referral Center for Neurofibromatoses were included. The standardized mortality ratio (SMR) with its 95% confidence interval (CI) was calculated as the ratio of observed over expected numbers of deaths. We studied factors associated with death and causes of death.

Results

Between 1980 and 2006, 1895 NF1 patients were seen. Median follow-up was 6.8 years (range, 0.4-20.6). Vital status was available for 1226 (65%) patients, of whom 1159 (94.5%) survived and 67 (5.5%) died. Overall mortality was significantly increased in the NF1 cohort (SMR, 2.02; CI, 1.6-2.6; P < 10^-4). The excess mortality occurred among patients aged 10 to 20 years (SMR, 5.2; CI, 2.6-9.3; P < 10^-4) and 20 to 40 years (SMR, 4.1; 2.8-5.8; P < 10^-4). Significant excess mortality was found in both males and females. In the 10-20 year age group, females had a significant increase in mortality compared to males (SMR, 12.6; CI, 5.7-23.9; and SMR, 1.8; CI, 0.2-6.4; respectively). The cause of death was available for 58 (86.6%) patients; malignant nerve sheath tumor was the main cause of death (60%).

Conclusions

We found significantly increased SMRs indicating excess mortality in NF1 patients compared to the general population. The definitive diagnosis of NF1 in all patients is a strength of our study, and the high rate of death related to malignant transformation is consistent with previous work. The retrospective design and hospital-based recruitment are limitations of our study. Mortality was significantly increased in NF1 patients aged 10 to 40 years and tended to be higher in females than in males.