Background
Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to ...mutations in COL1A1 (17q21.33) or COL1A2 (7q21.3) resulting in quantitative or qualitative defects in type I collagen, a key structural constituent of bone. OI due to complete COL1A1 deletion is rare.
Methods
We present a case of OI type I in a Caucasian female referred at 10 months of age for investigation of multiple fractures associated with minimal or no known trauma, small stature, and blue sclera. Her father has four to five lifetime fractures, blue sclera, normal stature, and a 14.5 kilobase (kb) deletion of COL1A1 detected by targeted array performed at an outside institution. Microarray comparative genomic hybridization was performed on the proband and all members of the family.
Results
A previously unreported 235 kb deletion at 17q21.33 encompassing COL1A1, ITGA3, PDK2, SGCA, and HILS1 was detected in the proband. Also identified in both the proband and sibling is a maternally inherited 283 kb gain at 8p21.3 encompassing CSGALNACT1 and a 163 kb loss at 10q21.3 encompassing CTNNA3. Analysis in the father revealed the same size deletion at 17q21.33 as in the proband.
Conclusion
Together with previously reported cases of COL1A1 deletions, this case report emphasizes the importance of a whole‐genome DNA copy number assessment in patients suspected for OI, which will elucidate the presence of precise COL1A1 deletions and any pathogenic secondary copy number variations.
Whole‐genome DNA copy number assessment in patients suspected for OI will elucidate the presence of precise COLIA1 deletions and any secondary pathogenic copy number variations. This case report highlights the importance of large COLIA1 deletions and secondary copy number variations in identifying clinical features which may establish as yet unknown variants of OI and lead to improved management and genetic counseling of patients.
OBJECTIVES:To compare the early complications with operative treatment of acetabular fractures in morbidly obese (body mass index ≥40) patients when compared with all other patients.
...DESIGN:Retrospective review.
SETTING:University medical center.
PATIENTS/PARTICIPANTS:Four hundred thirty-five consecutive patients with acetabular fractures operatively treated by a single surgeon. Forty-one of these patients were morbidly obese (group 1) and were compared with the remaining patients (group 2). Group 2, therefore, included patients who were clinically overweight and obese.
INTERVENTION:Operative repair of acetabular fracture.
MAIN OUTCOME MEASUREMENTS:Outcome variables included patient positioning time, total operative time, estimated intraoperative blood loss, length of hospital stay, perioperative complications, and late complications.
RESULTS:The average total operative time was 293 minutes for group 1 and 250 minutes (P = 0.008) for group 2. The hospital stay for group 1 averaged 26 days versus 15 days in group 2 (P < 0.01). There were 19 (46%) wound complications in group 1 compared with 49 (12%) in group 2 (P < 0.0001). Overall, there were complications in 26 of the 41 patients (63%) in group 1 and in 96 of the 394 patients (24%) in group 2. Group 1ʼs relative risk of having a complication was 2.6 (95% confidence interval = 2.4-2.8) when compared with group 2.
CONCLUSIONS:Our morbidly obese population had a statistically higher complication rate, longer operative times, and greater estimated intraoperative blood loss. The majority of complications were related primarily to wound healing problems and successfully controlled with aggressive approach to surgical debridement.
BACKGROUND:Increasing attention is being paid to the influences that the body habitus and weight of the pediatric patient impose upon the fixation methods for femur fractures. Of the widely accepted ...treatment options, little biomechanical or clinical data exist comparing flexible intramedullary nailing and locked plating. The aim of this study was to compare the mechanical stability of unstable pediatric diaphyseal femur fractures fixed with titanium flexible intramedullary nails or a titanium locking plate using a synthetic femur model.
METHODS:Fracture stabilization was carried out with either 4.0-mm titanium elastic nails or 16-hole 4.5-mm narrow titanium locking compression plates. Axial and rotational testing of each specimen was performed. The axial loading rate was 0.20 mm/s. The torsional loading rate was 0.1 degrees rotation per second. The axial compressive modulus was defined as the compressive stress divided by the compressive strain. The rotational stiffness was defined as the torque moment applied to the femoral head divided by the resulting rotational displacement (in radians). The yield point or load to failure of the simulated fracture constructs was recorded for each specimen.
RESULTS:The modulus for comminuted fractures measured during the application of axial compression was 0.657 GPa for plate constructs and 0.326 GPa for elastic nail constructs (P=0.021). The modulus for oblique fractures during axial loading treated with plate fixation or titanium elastic nails was 1.63 and 0.466 GPa, respectively (P<0.0001). The yield point for comminuted fractures occurred at an axial load of 2304.7 N (SD±315.77) for plate constructs and 383.6 N (SD±139.2) for elastic nail constructs (P<0.001). For oblique fractures, the yield load occurred at 3111.9 N (SD±821.9) for plate constructs and at 1367.0 N (SD±98.9) for elastic nail constructs (P<0.0001).
CONCLUSIONS:Locked plating provides a biomechanically more stable construct than elastic intramedullary nailing. Its use as part of the technique of indirect reduction and submuscular plating remain a viable alternative in the treatment of length-unstable pediatric femur fracture patterns.
CLINICAL RELEVANCE:Provide biomechanical evidence supporting the use of plating techniques in the pediatric femur fracture population.
We report a case of Kawasaki disease with significant coronary artery aneurysms subsequently associated with reactive hemophagocytic lymphohistiocytosis in a young child with low T-cell perforin ...expression and NK-cell dysfunction. The patient was treated with a selective T-cell costimulation modulator in an effort to regulate T-cells. This case is unique for several reasons(1) the severe degree of coronary artery aneurysms; (2) low T-cell perforin and NK-cell values; and (3) treatment with a selective T-cell costimulation modulator, none of which has been described in prior cases.
One potential mechanism contributing to the increased risk for encephalopathies in women with preeclampsia is altered cerebral vascular autoregulation resulting from impaired myogenic tone. Whether ...placental ischemia, a commonly proposed initiator of preeclampsia, alters cerebral vascular function is unknown. This study tested the hypothesis that placental ischemia in pregnant rats (caused by reduced uterine perfusion pressure RUPP) leads to impaired myogenic responses in middle cerebral arteries. Mean arterial pressure was increased by RUPP (135±3 mm Hg) compared with normal pregnant rats (103±2 mm Hg) and nonpregnant controls (116±1 mm Hg). Middle cerebral arteries from rats euthanized on gestation day 19 were assessed in a pressure arteriograph under active (+Ca) and passive (0 Ca) conditions, whereas luminal pressure was varied between 25 and 150 mm Hg. The slope of the relationship between tone and pressure in the middle cerebral artery was 0.08±0.01 in control rats and was similar in normal pregnant rats (0.05±0.01). In the RUPP model of placental ischemia, this relationship was markedly reduced (slope=0.01±0.00; P<0.05). Endothelial dependent and independent dilation was not different between groups, nor was there evidence of vascular remodeling assessed by the wall:lumen ratio and calculated wall stress. The impaired myogenic response was associated with brain edema measured by percentage of water content (RUPP P<0.05 versus control and normal pregnant rats). This study demonstrates that placental ischemia in pregnant rats leads to impaired myogenic tone in the middle cerebral arteries and that the RUPP model is a potentially important tool to examine mechanisms leading to encephalopathy during preeclamptic pregnancies.
OBJECTIVES:To evaluate the radiographic and computed tomographic reduction qualities after acetabular fracture repair in obese and nonobese patients.
DESIGN:Retrospective review.
SETTING:University ...medical center.
PATIENTS/PARTICIPANTS:Two hundred forty-two patients were treated with open reduction internal fixation for displaced acetabular fractures. The nonobese group (Group 1) consisted of 149 patients and the obese group (Group 2) had 93 patients. A nonmorbidly obese group (Group 3 = 221 patients) and a morbidly obese group (Group 4 = 21 patients) were also created from the same patient population.
INTERVENTION:Operative repair of acetabular fractures.
MAIN OUTCOME MEASUREMENTS:Reductions on postoperative radiographs were classified as anatomic with less than 1 mm, imperfect with 2 to 3 mm, and poor with greater than 3 mm of residual displacement. On postoperative computed tomographic scans, reductions were considered nonanatomic with persistent gap or step displacements greater than or equal to 2 mm.
RESULTS:Anatomic radiographic reductions were achieved in 72% of the nonobese patients, 70% of the obese patients, 72% of the nonmorbidly obese patients, and 61% of the morbidly obese patients. (P = 0.379) On postoperative computed tomographic scans, an acceptable reduction was obtained in 47% of the nonobese patients, 44% of the obese patients, 47% of the nonmorbidly obese patients, and 31% of the morbidly obese patients. (P = 0.232).
CONCLUSIONS:Anatomic or satisfactory reductions can be similarly achieved in all classes of nonmorbidly obese patients who have sustained displaced acetabular fractures. In the morbidly obese, anatomic reductions may be more difficult to obtain.
•EQIP is an innovative quality improvement project for surgical training programs.•Thirty-six surgical training programs with 1264 trainees and 1500 faculty members were included in the dataset.•The ...APDS has proved the concept that a highly secure database for the purpose of continuous risk-adjusted quality improvement in surgical education can be successfully deployed.•Risk-adjusted multivariable analysis suggests that increased time in a technical skills lab was associated with increased success on the ABS's Qualifying Examination, alone.•Increased time in a technical skills lab and the presence of a formal teaching curriculum were associated with increased success on both the ABS's Qualifying and Certifying Examination.•Program type may be of some consequence in predicting success on the Qualifying Examination.
To describe the first year of the Educational Quality Improvement Program (EQIP)
The Educational Quality Improvement Program (EQIP) was formed by the Association of Program Directors in Surgery (APDS) in 2018 as a continuous educational quality improvement program. Over 18 months, thirteen discrete goals for the establishment of EQIP were refined and executed through a collaborative effort involving leaders in surgical education. Alpha and beta pilots were conducted to refine the data queries and collection processes. A highly-secure, doubly-deidentified database was created for the ingestion of resident and program data.
36 surgical training programs with 1264 trainees and 1500 faculty members were included in the dataset. 51,516 ERAS applications to programs were also included. Uni- and multi-variable analysis was then conducted.
EQIP was successfully deployed within the timeline described in 2020. Data from the ACGME, ABS, and ERAS were merged with manually entered data by programs and successfully ingested into the EQIP database. Interactive dashboards have been constructed for use by programs to compare to the national cohort. Risk-adjusted multivariable analysis suggests that increased time in a technical skills lab was associated with increased success on the ABS's Qualifying Examination, alone. Increased time in a technical skills lab and the presence of a formal teaching curriculum were associated with increased success on both the ABS's Qualifying and Certifying Examination. Program type may be of some consequence in predicting success on the Qualifying Examination.
The APDS has proved the concept that a highly secure database for the purpose of continuous risk-adjusted quality improvement in surgical education can be successfully deployed. EQIP will continue to improve and hopes to include an increasing number of programs as the barriers to participation are overcome.
BACKGROUND:The treatment of complex diaphyseal malunions is challenging, requiring extensive preoperative planning and precise operative technique. We have developed a simpler method to treat some of ...these deformities.
METHODS:Ten patients with complex diaphyseal malunions (including four femoral and six tibial malunions) underwent a clamshell osteotomy. The indications for surgery included pain at adjacent joints and deformity. After surgical exposure, the malunited segment was transected perpendicular to the normal diaphysis proximally and distally. The transected segment was again osteotomized along its long axis and was wedged open, similar to opening a clamshell. The proximal and distal segments of the diaphysis were then aligned with use of an intramedullary rod as an anatomic axis template and with use of the contralateral extremity as a length and rotation template. The patients were assessed clinically and radiographically at a mean of thirty-one months (range, six to fifty-two months) after the osteotomy.
RESULTS:Complete angular correction was achieved in each case; the amount of correction ranged from 2° to 20° in the coronal plane, from 0° to 32° in the sagittal plane, and from 0° to 25° in the axial plane (rotation). Correction of length ranged from 0 to 5 cm, and limb length was restored to within 2 cm in all patients. All osteotomy sites were healed clinically by six months. While no deep infections occurred, superficial wound dehiscence occurred in two patients along the approach for the longitudinal portion of the osteotomy, emphasizing the importance of careful soft-tissue handling and patient selection.
CONCLUSIONS:The clamshell osteotomy provides a useful way to correct many forms of diaphyseal malunion by realigning the anatomic axis of the long bone with use of a reamed intramedullary rod as a template. This technique provides an alternative that could decrease preoperative planning time and complexity as well as decrease the need for intraoperative osteotomy precision in a correctly chosen subset of patients with diaphyseal deformities.
LEVEL OF EVIDENCE:Therapeutic Level IV. See Instructions to Authors for a complete description of levels of evidence.
ORIGINAL ABSTRACT CITATION:“The Clamshell OsteotomyA New Technique to Correct Complex Diaphyseal Malunions” (2009;91:314-24).
Multiple myeloma is a cancer of plasma cells that is characterized by osteolytic bone destruction.
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The bone disease can lead to pain, pathologic fractures, spinal cord compression, and ...hypercalcemia and is a major cause of morbidity and mortality in affected patients.
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These complications result from increased osteoclastic resorption of bone that is not accompanied by increased bone formation.
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The increase in osteoclastic activity in patients with multiple myeloma is mediated by the release of osteoclast-stimulating factors by myeloma cells.
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,
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Bisphosphonates inhibit osteoclastic activity and are effective in the treatment of cancer-associated hypercalcemia.
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,
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These drugs have been evaluated as . . .
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