Congenital rubella cataract: a timely reminder in the new millennium?

Maternal infection with rubella in the first trimester is an important cause of congenital cataract. Any injury affecting the foetus following maternal rubella infection in the phase of organogenesis results in congenital defects collectively termed as congenital rubella syndrome (CRS). Although rubella embryopathy is a less common cause for congenital cataract than in the past, it is still seen. The number of cases reduced to one in 1997 after which there were no new cases till 2002. However, there have been two new cases of CRS in 2003. Herein another one in early 2004 is reported. Outbreaks of CRS will continue until the percentage of susceptible individuals is reduced to a minimum through immunization. The majority of rubella cases in Australia are confined to young female immigrants, many coming for marriage. We must continue to immunize children, identify and immunize vaccine failures and susceptible women before they become pregnant, and to screen pregnant women so they can be vaccinated after delivery.     

Recurrent laryngeal nerve palsy after anterior cervical spine surgery: the impact of endotracheal tube cuff deflation, reinflation, and pressure adjustment

BACKGROUND: Vocal fold immobility (paresis or paralysis) from recurrent laryngeal nerve injury remains an important cause of morbidity after anterior cervical spine surgery. A maneuver involving endotracheal tube (ETT) cuff manipulation has been proposed to reduce its incidence. This study is a randomized, prospective, double-blind investigation to test the hypothesis that ETT cuff manipulation reduces the incidence of postoperative vocal fold immobility after anterior cervical spine surgery. METHODS: One hundred patients scheduled to undergo anterior cervical spine surgery were randomly assigned to one of two groups. After inducing general endotracheal anesthesia, patients in the intervention group had their ETT cuff pressures maintained at 20 mmHg or less. After placement of self-retaining retractors, the ETT cuff was deflated for 5 s and then reinflated. Patients in the control group had no further manipulation of their ETT once the cuff was inflated after intubation. Cuff pressures in both groups were recorded before skin incision (baseline) and after placement of self-retaining retractors (peak). Patients' vocal fold motion was evaluated by indirect laryngoscopy performed preoperatively and postoperatively. The examination was videotaped and reviewed by a blinded otolaryngologist. Postoperative vocal fold motion was graded as normal, paretic, or paralyzed. RESULTS: Complete data were available in 94 patients. The incidence of vocal fold paralysis was 3.2% (95% confidence interval, 0.7-9.4%). Cuff manipulation decreased ETT cuff pressure but did not reduce the incidence of vocal fold immobility (15.4% vs. 14.5%). CONCLUSION: Endotracheal tube cuff deflation/reinflation and pressure adjustment do not reduce the incidence of vocal fold immobility in anterior cervical spine surgery.     

Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay

Single-nucleotide substitutions and small in-frame insertions or deletions identified in human breast cancer susceptibility genes BRCA1 and BRCA2 are frequently classified as variants of unknown clinical significance (VUS) due to the availability of very limited information about their functional consequences. Such variants can most reliably be classified as pathogenic or non-pathogenic based on the data of their co-segregation with breast cancer in affected families and/or their co-occurrence with a pathogenic mutation. Biological assays that examine the effect of variants on protein function can provide important information that can be used in conjunction with available familial data to determine the pathogenicity of VUS. In this report, we have used a previously described mouse embryonic stem (mES) cell-based functional assay to characterize eight BRCA2 VUS that affect highly conserved amino acid residues and map to the N-terminal PALB2-binding or the C-terminal DNA-binding domains. For several of these variants, very limited co-segregation information is available, making it difficult to determine their pathogenicity. Based on their ability to rescue the lethality of Brca2-deficient mES cells and their effect on sensitivity to DNA-damaging agents, homologous recombination and genomic integrity, we have classified these variants as pathogenic or non-pathogenic. In addition, we have used homology-based modeling as a predictive tool to assess the effect of some of these variants on the structural integrity of the C-terminal DNA-binding domain and also generated a knock-in mouse model to analyze the physiological significance of a residue reported to be essential for the interaction of BRCA2 with meiosis-specific recombinase, DMC1.     

Intraoperative transillumination to determine the extent of frontal sinus in subcranial approach to anterior skull base

We sought to determine the extent of the frontal sinus by intraoperative transillumination through the superomedial orbital wall in a subcranial approach to the anterior skull base. After raising a bicoronal flap, the frontal sinus was transilluminated through the superomedial orbital wall with a fiber-optic light source, delineating the extent of the frontal sinus. The frontal sinus boundary was marked with a marker pen. A frontal sinus anterior wall osteotomy was performed with a sagittal saw, staying within the confines of the frontal sinus marking. A bone flap was removed, and the posterior wall was drilled out. The remaining procedure was performed in a standard fashion. At the end of the procedure, the bone flap was fixed with a titanium plate. A total of 58 patients had undergone craniofacial resection from January 2004 to December 2007. In 13 patients, a subcranial approach was employed using the transillumination technique. Transillumination was successful in delineating the frontal sinus periphery in all 13 patients. Intraoperative transillumination of the frontal sinus through the superomedial orbital wall is a simple and effective method to delineate the frontal sinus periphery in a subcranial approach to the anterior skull base.     

Current issues in health policy: a primer for the orthopaedic surgeon

Political, social, and economic forces occupy an increasingly larger role in health care. It is essential that orthopaedic surgeons become familiar with the ever-changing landscape within which they practice. Greater comprehension of the current issues in health policy will enable practitioners to appreciate these issues and understand the importance of the involvement of the AAOS in the political process. Five topics in particular will continue to have a great impact on the practice of orthopaedic surgery: the flawed Medicare payment formula, implementation of a pay-for-performance program, the creation of gainsharing agreements between hospitals and physicians, the medical liability crisis, and the importance of advocacy with the political action committee of the AAOS.