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1.
Orthop J Sports Med ; 4(12): 2325967116677709, 2016 Dec.
Article in English | MEDLINE | ID: mdl-28203590

ABSTRACT

BACKGROUND: As value becomes a larger component of heath care decision making, cost data can be evaluated for regional and physician variation. Value is determined by outcome divided by cost, and reducing cost increases value for patients. "Third-party spend" items are individual selections by surgeons used to perform procedures. Cost data for third-party spend items provide surgeons and hospitals with important information regarding care value, potential cost-saving opportunities, and the total cost of ownership of specific clinical decisions. PURPOSE: To perform a cost review of isolated rotator cuff repair within a regional 7-hospital system and to document procedure cost variation among operating surgeons. STUDY DESIGN: Economic and decision analysis; Level of evidence, 4. METHODS: Current Procedural Terminology (CPT) codes were used to retrospectively identify subjects who received an isolated rotator cuff repair within a 7-hospital system. Cost data were collected for clinically sensitive third-party spend items and divided into 4 cost groups: (1) suture anchors, (2) suture-passing devices and needles, (3) sutures used for cuff repair, and (4) disposable tools or instruments. RESULTS: A total of 62 isolated rotator cuff repairs were performed by 17 surgeons over a 13-month period. The total cost per case for clinically sensitive third-party spend items (in 2015 US dollars) ranged from $293 to $3752 (mean, $1826). Four surgeons had a mean procedure cost that was higher than the data set mean procedure cost. The cost of an individual suture anchor ranged from $75 to $1775 (mean, $403). One disposable suture passer was used, which cost $140. The cost of passing needles ranged from $140 to $995 (mean, $468). The cost per repair suture (used to repair cuff tears) varied from $18 to $298 (mean, $61). The mean suture (used to close wounds) cost per case was $81 (range, $0-$454). A total of 316 tools or disposable instruments were used, costing $1 to $1573 per case (mean, $624). CONCLUSION: This study demonstrates significant cost variation with respect to cost per case and cost of individual items used during isolated rotator cuff repair. Suture anchors represent the most expensive and variable surgeon-directed cost. The wide cost variation seen in all cost categories illustrates both the effect of surgeon choice in procedure cost and the opportunity for significant cost savings in cases of isolated rotator cuff repair. Engaging surgeons in discussion on cost can positively influence the value of care provided to patients if costs can be reduced without affecting the quality of patient outcomes.

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J Bone Miner Res ; 23(10): 1576-83, 2008 Oct.
Article in English | MEDLINE | ID: mdl-18466071

ABSTRACT

No major susceptibility genes for sporadically occurring congenital vertebral malformations (CVM) in humans have been identified to date. Body patterning genes whose mutants cause axial skeletal anomalies in mice are candidates for human CVM susceptibility. T (also known as Brachyury) and TBX6 are critical genes needed to establish mesodermal identity. We hypothesized that mutations in T and/or TBX6 contribute to the pathogenesis of human CVMs. The complete T and TBX6 coding regions, splice junctions, and proximal 500 bp of the promoters were sequenced in 50 phenotyped patients with CVM. Three unrelated patients with sacral agenesis, Klippel-Feil syndrome, and multiple cervical and thoracic vertebral malformations were heterozygous for a c.1013C>T substitution, resulting in a predicted Ala338Val missense alteration in exon 8. A clinically unaffected parent of each patient also harbored the substitution, but the variant did not occur in an ethnically diverse, 443-person reference population. The c.1013C>T variant is significantly associated with CVM (p < 0.001). Alanine 338 shows moderate conservation across species, and valine at this position has not been reported in any species. A fourth patient harbored a c.908-8C>T variant in intron 7. This previously unreported variant was tested in 347 normal control subjects, and 11 heterozygotes and 2 T/T individuals were found. No TBX6 variants were identified. We infer that the c.1013C>T substitution is pathogenic and represents the first report of an association between a missense mutation in the T gene and the occurrence of sporadic CVMs in humans. It is uncertain whether the splice junction variant increases CVM risk. TBX6 mutations do not seem to be associated with CVM. We hypothesize that epistatic interactions between T and other developmental genes and the environment modulate the phenotypic consequences of T variants.


Subject(s)
Fetal Proteins/genetics , Mutation, Missense , Spine/abnormalities , T-Box Domain Proteins/genetics , Adult , Base Sequence , Child , Cohort Studies , DNA Primers , Humans , Radiography , Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization , Spine/diagnostic imaging
6.
Scoliosis ; 2: 13, 2007 Sep 23.
Article in English | MEDLINE | ID: mdl-17888180

ABSTRACT

BACKGROUND: Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes associated with human vertebral development are not feasible. We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations. METHODS: A pilot study was performed using a cohort of patients with congenital vertebral malformations spanning the entire vertebral column was characterized. DNA sequence analysis of the WNT3A gene in these 50 patients with congenital vertebral malformations was performed. RESULTS: A female patient of African ancestry with congenital scoliosis and a T12-L1 hemivertebrae was found to be heterozygous for a missense variant resulting in the substitution of alanine by threonine at codon 134 in highly conserved exon 3 of the WNT3A gene. This variant was found at a very low prevalence (0.35%) in a control population of 443 anonymized subjects and 1.1% in an African population. CONCLUSION: These data suggest that WNT3A does not contribute towards the development of congenital vertebral malformations. Factors such as phenotypic and genetic heterogeneity may underlie our inability to detect mutations in WNT3A in our patient sample.

7.
Am J Med Genet A ; 140(22): 2447-53, 2006 Nov 15.
Article in English | MEDLINE | ID: mdl-17041936

ABSTRACT

Investigations have not identified a major locus for congenital vertebral malformations. Based on observations in mice, we hypothesized that mutations in DLL3, a member of the notch-signaling pathway, might contribute to human vertebral malformations. We sequenced the DLL3 gene in 50 patients with congenital vertebral malformations. A Caucasian male patient with VACTERL manifestations including a T5-T6 block vertebrae was heterozygous for a "G" to "A" missense mutation changing glycine to arginine at codon 269. This residue is conserved in mammals, including chimpanzee, mouse, dog, and rat. Additional testing in the patient did not show evidence of chromosome abnormalities. The patient's asymptomatic mother was also heterozygous for the missense mutation. Since this mutation was not observed in a control population and leads to an amino acid change, it may be clinically significant. The mutation was not found in a control population of 87 anonymous individuals. Several established mechanisms could explain the mutation in both the patient and his asymptomatic mother (susceptibility allele requiring additional environmental factors, somatic mosaicism, multigenic inheritance). Documenting the absence of the mutation in a larger control population or the presence of the mutation in additional affected patients, or documenting a functional difference in DLL3 would provide further evidence supporting its causal role.


Subject(s)
Intracellular Signaling Peptides and Proteins/genetics , Membrane Proteins/genetics , Spine/abnormalities , Adult , Alleles , Amino Acid Substitution , Animals , Base Sequence , Case-Control Studies , Child , DNA Primers/genetics , Female , Gene Frequency , Heterozygote , Humans , Male , Mutation, Missense , Scoliosis/congenital , Scoliosis/genetics , Signal Transduction
8.
J Am Coll Surg ; 202(6): 938-42, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16735209

ABSTRACT

BACKGROUND: We retrospectively query the clinical records of patients with cervical osteophytes to distinguish the clinical features of those presenting with symptomatic dysphagia and airway obstruction. STUDY DESIGN: Retrospective review of all patients presenting over a 20-year period (1985 to 2005) with the diagnosis of cervical osteophytes and dysphagia with or without airway compromise. Two hundred thirty-four patients were identified at Marshfield Clinic between 1985 and 2005; 9 (3.8%) met criteria for inclusion. RESULTS: Eight of nine patients presented with dysphagia. Three of nine patients presented with acute airway obstruction requiring intubation and tracheotomy. Osteophytes occurred at multiple levels, with C4, C5, and C6 being most commonly involved. Surgical decompression resulted in complete resolution of symptoms in four of five patients. CONCLUSIONS: Although commonly found and usually asymptomatic in the older population, anterior cervical osteophytes can be a source of considerable morbidity and potential life-threatening airway obstruction. Recognizing this clinical entity is imperative in establishing a diagnosis and initiating appropriate treatment. Surgical decompression appears to be beneficial in relieving symptoms.


Subject(s)
Airway Obstruction/etiology , Deglutition Disorders/etiology , Hyperostosis, Diffuse Idiopathic Skeletal/complications , Voice Disorders/etiology , Aged , Aged, 80 and over , Airway Obstruction/diagnostic imaging , Airway Obstruction/surgery , Cervical Vertebrae/diagnostic imaging , Cervical Vertebrae/surgery , Decompression, Surgical/methods , Deglutition Disorders/diagnostic imaging , Deglutition Disorders/surgery , Female , Follow-Up Studies , Humans , Hyperostosis, Diffuse Idiopathic Skeletal/diagnostic imaging , Hyperostosis, Diffuse Idiopathic Skeletal/surgery , Male , Retrospective Studies , Severity of Illness Index , Tomography, X-Ray Computed , Treatment Outcome , Voice Disorders/diagnostic imaging , Voice Disorders/surgery
11.
Spine (Phila Pa 1976) ; 28(14): 1608-13, 2003 Jul 15.
Article in English | MEDLINE | ID: mdl-12865853

ABSTRACT

STUDY DESIGN: Case crossover design was conducted. OBJECTIVES: The purpose of the current study was to determine the radiation exposure level of operators performing fluoroscopically assisted vertebroplasty and to determine optimal techniques to reduce this exposure. SUMMARY OF BACKGROUND DATA: The use of ionizing radiation to provide quality imaging during minimally invasive orthopedic procedures has dramatically increased. One such procedure, vertebroplasty, which is the percutaneous fixation of fractured vertebrae with polymethylmethacrylate, requires the use of ionizing radiation of biplanar fluoroscopy. The adverse effects of excessive radiation exposure to occupational personnel may not be realized for several years. METHODS: Twelve months of occupational dose data for a single operator were evaluated and correlated to the modifications of practice habits implemented and shielding techniques used to reduce the operator's exposure while maintaining adequate image quality. RESULTS: Before the implementation of radiation-reduction procedures, the average whole-body dose per vertebroplasty procedure was 1.44 mSv/vertebrae, and the measured hand dose was 2.04 mSv/vertebrae. After implementation of radiation-reducing procedures and shielding techniques, the average whole-body dose per vertebroplasty procedure was 0.004 mSv/vertebrae, and the average hand dose was 0.074 mSv/vertebrae. Testing of the shielding device indicated a significant reduction in whole-body and hand doses. For the fluoroscopic modes investigated, the shielding used resulted in reductions ranging from 42.9% to 86.1%. CONCLUSION: It is critical that operators performing vertebroplasty procedures have a fundamental understanding of radiation physics and radiation protection to minimize radiation exposure.


Subject(s)
Medical Staff , Occupational Exposure/prevention & control , Orthopedic Procedures/methods , Radiation Protection/methods , Fluoroscopy , Humans , Occupational Exposure/analysis , Radiation Protection/instrumentation , Radiation, Ionizing , Radiometry/methods , Radiometry/statistics & numerical data , Time Factors
12.
Clin Med Res ; 1(2): 125-36, 2003 Apr.
Article in English | MEDLINE | ID: mdl-15931299

ABSTRACT

OBJECTIVE: Genetic and environmental factors influencing spinal development in lower vertebrates are likely to play a role in the abnormalities associated with human congenital scoliosis (CS) and idiopathic scoliosis (IS). An overview of the molecular embryology of spinal development and the clinical and genetic aspects of CS and IS are presented. Utilizing synteny analysis of the mouse and human genetic databases, likely candidate genes for human CS and IS were identified. DESIGN: Review and synteny analysis. METHODS: A search of the Mouse Genome Database was performed for "genes," "markers" and "phenotypes" in the categories Neurological and neuromuscular, Skeleton, and Tail and other appendages. The Online Mendelian Inheritance in Man was used to determine whether each mouse locus had a known human homologue. If so, the human homologue was assigned candidate gene status. Linkage maps of the chromosomes carrying loci with possibly relevant phenotypes, but without known human homologues, were examined and regions of documented synteny between the mouse and human genomes were identified. RESULTS: Searching the Mouse Genome Database by phenotypic category yielded 100 mutants of which 66 had been mapped. The descriptions of each of these 66 loci were retrieved to determine which among these included phenotypes of scoliosis, kinky or bent tails, other vertebral abnormalities, or disturbances of axial skeletal development. Forty-five loci of interest remained, and for 27 of these the comparative linkage maps of mouse and human were used to identify human syntenic regions to which plausible candidate genes had been mapped. CONCLUSION: Synteny analysis of mouse candidate genes for CS and IS holds promise due to the close evolutionary relationship between mice and human beings. With the identification of additional genes in animal model systems that contribute to different stages of spine development, the list of candidate genes for CS and IS will continue to grow.


Subject(s)
Databases, Genetic , Scoliosis/genetics , Spine/abnormalities , Animals , Humans , Mice , Scoliosis/congenital
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