Imaging features of intraosseous hemangiomas: beyond the mobile spine and calvarium.

OBJECTIVE: Describe imaging features of intraosseous hemangiomas located outside of the mobile spine and calvarium. MATERIALS AND METHODS: Imaging and medical records were retrospectively reviewed for cases of intraosseous hemangiomas located outside of the calvarium and mobile spine. Evaluation included patient demographics, histologic confirmation, and imaging characteristics. RESULTS: Thirty-six patients were included (25 F, 11 M; mean age 54 ± 17 years, range 10-84 years) with 37 total lesions (70% axial and 30% appendicular skeleton). Mixed lytic and sclerotic features were identified on 83-85% radiographs and CTs. Amorphous increased density mimicking osteoid matrix was present on 38-45% radiographs and CTs. Classic honeycomb or radial pattern was identified on 45% of CTs. Osseous expansion and cortical permeation were common features. CT identified periosteal reaction in 24% of lesions. All hemangiomas had heterogeneous MRI signal and most moderately or avidly enhanced. Intralesional fat was identified on 78% MRIs, often as a minor component and only detected on 24% of CTs. A soft tissue mass was present on 52% of MRIs. FDG PET/CT mean SUVmax of 3.2 ± 0.6 (range 1.9-5.0). Lesional FDG activity relative to background marrow was increased in 75% of lesions. Lesions with cortical permeation had higher metabolic activity versus those without (3.5 ± 0.7 versus 2.2 ± 0.3, p = 0.041). CONCLUSION: Intraosseous hemangiomas outside of the mobile spine and calvarium demonstrate more aggressive imaging features compared to vertebral hemangiomas, including cortical permeation, soft tissue mass, amorphous increased density mimicking osteoid matrix, and increased FDG activity.

Associations of marijuana with markers of chronic lung disease in people living with HIV.

OBJECTIVES: The relationship between marijuana use and markers of chronic lung disease in people living with HIV (PLWH) is poorly understood. METHODS: We performed a cross-sectional analysis of the Examinations of HIV-Associated Lung Emphysema (EXHALE) study, including 162 HIV-positive patients and 138 participants without HIV. We modelled marijuana exposure as: (i) current daily or weekly marijuana smoking vs. monthly or less often; or (ii) cumulative marijuana smoking (joint-years). Linear and logistic regression estimated associations between marijuana exposure and markers of lung disease, adjusted for tobacco smoking and other factors. RESULTS: In PLWH, current daily or weekly marijuana use was associated with a larger forced vital capacity (FVC), larger total lung capacity and increased odds of radiographic emphysema compared with marijuana non-smokers in adjusted models; these associations were not statistically significant in participants without HIV. Marijuana joint-years were associated with higher forced expiratory volume in 1 s and FVC in PLWH but not with emphysema. CONCLUSIONS: In PLWH, marijuana smoking was associated with higher lung volumes and potentially with radiographic emphysema. No consistently negative associations were observed between marijuana and measures of chronic lung health.

Comparing the Pemberton osteotomy and modified San Diego acetabuloplasty in developmental dysplasia of the hip.

PURPOSE: Patients with developmental dysplasia of the hip (DDH) may require a pelvic osteotomy to treat acetabular dysplasia. The Pemberton osteotomy and modified San Diego acetabuloplasty are two options available when surgically treating DDH. The purpose of this study was to compare outcomes following the Pemberton and modified San Diego when treating patients with acetabular dysplasia in typical DDH. METHODS: We included 45 hips in the modified San Diego group and 38 hips in the Pemberton group. Hips with less than two years follow-up and patients with a neuromuscular diagnosis were excluded. Clinical outcomes were rated using the modified McKay criteria with radiographic outcomes graded using the Severin score. Avascular necrosis (AVN) was assessed using the Kalamchi and MacEwen criteria. RESULTS: Mean follow-up was 4.9 years (2.1 to 11.2). Both procedures produced similar decreases in the acetabular index (modified San Diego: 17.0˚ versus Pemberton: 15.2˚; p = 0.846). Most hips had good/excellent results using the modified McKay criteria (modified San Diego: 78%, Pemberton: 94%; p = 0.055). Most hips were rated as good/excellent on the Severin scale (modified San Diego: 100%, Pemberton: 97%, p = 0.485). The proportion of hips with AVN grade 2 or higher were similar between groups (modified San Diego: 0%, Pemberton: 3%; p = 0.458). CONCLUSION: The modified San Diego acetabuloplasty is a safe and effective alternative to treat acetabular dysplasia in patients with typical DDH. By maintaining an intact medial cortex, acetabular reshaping can be customized to address each patient's specific acetabular deficiency. LEVEL OF EVIDENCE: Level III retrospective comparison.

Should paediatricians initiate orthopaedic hip dysplasia referrals for infants with isolated asymmetric skin folds?

PURPOSE: Asymmetric skin folds (ASFs) have been linked to developmental dysplasia of the hip (DDH) in select studies, leading to their inclusion in paediatric practice guidelines regarding orthopaedic referral for hip evaluation. The purpose of this study was to investigate the utility of isolated ASFs as a screening tool for DDH in a series of patient referrals evaluated at a single institution. METHODS: We performed a retrospective review of consecutive patients between 0 and 12 months of age referred to orthopaedic clinics for isolated ASFs. We recorded radiographic findings (acetabular inclination or alpha angle), diagnosis rendered and treatment administered. RESULTS: A total of 66 patients were included (mean age 6.4 months; 2.47 to 10.76). All patients received pelvic radiographs or ultrasound. In all, 36 patients (55%) were considered normal by their treating physician and 25 (38%) were considered dysplastic and underwent brace treatment. One hip with an isolated ASF was found to have a dislocated hip on radiograph prior to their initial orthopaedic visit. None of the patients in this study have required surgery to date. CONCLUSION: Using ASFs as a reason for referral led to increased diagnosis of mild dysplasia resulting in orthotic treatment. Thus, in our particular clinical environment, isolated ASFs can be an indicator of mild dysplasia and warrant further workup or referral. Because treatment philosophies regarding recognition and treatment of mild dysplasia vary amongst centres, the value of screening with ASFs likewise depends on the treating orthopaedic surgeon's threshold for treatment of mild dysplasia. LEVEL OF EVIDENCE: Level IV- Retrospective.

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Consistent with a tentative diagnosis of neuronal ceroid lipofuscinosis (NCL), autofluorescent cytoplasmic storage bodies were found in neurons from the brains of 2 related Shiba Inu dogs with a young-adult onset, progressive neurodegenerative disease. Unexpectedly, no potentially causal NCL-related variants were identified in a whole-genome sequence generated with DNA from 1 of the affected dogs. Instead, the whole-genome sequence contained a homozygous 3 base pair (bp) deletion in a coding region of HEXB. The other affected dog also was homozygous for this 3-bp deletion. Mutations in the human HEXB ortholog cause Sandhoff disease, a type of GM2 gangliosidosis. Thin-layer chromatography confirmed that GM2 ganglioside had accumulated in an affected Shiba Inu brain. Enzymatic analysis confirmed that the GM2 gangliosidosis resulted from a deficiency in the HEXB encoded protein and not from a deficiency in products from HEXA or GM2A, which are known alternative causes of GM2 gangliosidosis. We conclude that the homozygous 3-bp deletion in HEXB is the likely cause of the Shiba Inu neurodegenerative disease and that whole-genome sequencing can lead to the early identification of potentially disease-causing DNA variants thereby refocusing subsequent diagnostic analyses toward confirming or refuting candidate variant causality.

Patient-specific 3D models aid planning for triplane proximal femoral osteotomy in slipped capital femoral epiphysis.

PURPOSE: Slipped capital femoral epiphysis (SCFE) can result in a complex three-dimensional (3D) deformity of the proximal femur. A three-plane proximal femoral osteotomy (TPFO) has been described to improve hip mechanics. The purpose of this study was to evaluate the benefits of using 3D print technology to aid in surgical planning. PATIENTS AND METHODS: Fifteen children treated with TPFO for symptomatic proximal femoral deformity due to SCFE were included in this study. Ten patients were treated by a single surgeon with (model group, n = 5) or without (no-model group, n = 5) a 3D model for pre-operative planning, and compared with patients treated by two senior partners without the use of a model (senior group, n = 5) to evaluate for a learning curve. Peri-operative data including patient body mass index (BMI), surgical time and fluoroscopy time were recorded. RESULTS: Children in all three groups had similar BMIs at the time of the TPFO. Post-operative radiographic parameters were equally improved in all three groups. On average, surgical time decreased by 45 minutes and 38 minutes, and fluoroscopy time decreased by 50% and 25%, in the model group compared with the no-model and senior groups, respectively. CONCLUSIONS: Patient-specific 3D models aid in surgical planning for complex 3D orthopaedic deformities by enabling practice of osteotomies. Results suggest that 3D models may decrease surgical time and fluoroscopy time while allowing for similar deformity correction. These models may be especially useful to overcome steep learning curves for complex procedures or in trainee education through mock surgical procedures.

Residual hip dysplasia at 1 year after treatment for neonatal hip instability is not related to degenerative joint disease in young adulthood: a 21-year follow-up study including dGEMRIC.

OBJECTIVE: Developmental dysplasia of the hip (DDH) is associated with an increased risk of early hip osteoarthritis (OA). We aimed to examine the outcome at the completion of growth in a cohort of children who had residual acetabular dysplasia at age 1 year following early treatment for neonatal instability of the hip (NIH). DESIGN: We examined 21 of 30 subjects who had been treated with the von Rosen splint neonatally for NIH and had residual acetabular dysplasia at age 1 year. Mean follow-up time was 21 years (range 17-24). Signs of OA and acetabular dysplasia were assessed by radiography. Cartilage quality was assessed by delayed Gadolinium Enhanced Magnetic Resonance Imaging of Cartilage (dGEMRIC), a tool for molecular imaging of cartilage quality, at 1.5 T. Patient reported outcome (PRO) was assessed by the 12-item WOMAC score. RESULTS: No study participant had radiographic OA (defined as Kellgren-Lawrence grade ≥2) or minimum joint space width (JSW) ≤2 mm. The mean dGEMRIC index was 630 ms (95% CI: 600-666, range: 516-825) suggesting good cartilage quality. The mean 12-item WOMAC score was 1.2. Two of three radiographic measurements of DDH correlated positively to the dGEMRIC index. CONCLUSIONS: Children treated neonatally for NIH have good hip function and no signs of cartilage degeneration at 21-year follow-up, despite residual dysplasia at age 1 year. Unexpectedly, radiographic signs of dysplasia were associated with better cartilage quality, as assessed with dGEMRIC. This may indicate cartilage adaptation to increased mechanical stress in mild hip dysplasia.

Lipoma arborescens: comparison of typical and atypical disease presentations.

AIM: To determine whether the aetiology differed between typical cases of lipoma arborescens with unilateral knee involvement and atypical cases involving joints other than the knee, polyarticular disease, and disease outside of the knee joint. MATERIALS AND METHODS: Cases of lipoma arborescens involving the knee joint were evaluated for the distribution of the disease and severity of degenerative arthritis. Joints other than the knee were evaluated for the presence and severity of degenerative arthritis, and the distribution was classified as either intra-articular, extra-articular, or both. Clinical history was reviewed for patient age at presentation, a history of inflammatory arthritis, diabetes mellitus, and known steroid use. Fisher's exact test was used to determine whether there was a statistically significant difference between typical and atypical presentations of the disease. RESULTS: Lipoma arborescens was identified in 45 joints in 39 patients. Twenty-eight patients were classified as "typical" and 11 patients had "atypical" disease. There was no significant difference in age at presentation, presence of degenerative arthritis, or known inflammatory arthritis when comparing typical and atypical presentations of the disease. CONCLUSION: Twenty-eight percent of patients in the present study had atypical presentation of lipoma arborescens with multifocal lipoma arborescens or disease in joints other than the knee. There was no significant difference in age at presentation, presence of degenerative arthritis, or known inflammatory arthritis when comparing typical and atypical presentations of the disease. Of the 39 patients, only three had no evidence of degenerative arthritis, which suggests that many cases of lipoma arborescens are secondary to chronic reactive change in association with degenerative arthritis.

A seven-crystal Johann-type hard x-ray spectrometer at the Stanford Synchrotron Radiation Lightsource.

We present a multicrystal Johann-type hard x-ray spectrometer (~5-18 keV) recently developed, installed, and operated at the Stanford Synchrotron Radiation Lightsource. The instrument is set at the wiggler beamline 6-2 equipped with two liquid nitrogen cooled monochromators--Si(111) and Si(311)--as well as collimating and focusing optics. The spectrometer consists of seven spherically bent crystal analyzers placed on intersecting vertical Rowland circles of 1 m of diameter. The spectrometer is scanned vertically capturing an extended backscattering Bragg angular range (88°-74°) while maintaining all crystals on the Rowland circle trace. The instrument operates in atmospheric pressure by means of a helium bag and when all the seven crystals are used (100 mm of projected diameter each), has a solid angle of about 0.45% of 4π sr. The typical resolving power is in the order of E/ΔE ~ 10,000. The spectrometer's high detection efficiency combined with the beamline 6-2 characteristics permits routine studies of x-ray emission, high energy resolution fluorescence detected x-ray absorption and resonant inelastic x-ray scattering of very diluted samples as well as implementation of demanding in situ environments.

Sphingomyelin lipidosis (Niemann-Pick disease) in a juvenile raccoon (Procyon lotor).

A wild caught juvenile male raccoon with neurological disease was humanely destroyed due to poor prognosis. Necropsy examination revealed hepatomegaly, splenomegaly and multicentric lymphadenomegaly with diffuse hepatic pallor and pulmonary consolidation with pinpoint pale subpleural foci. Microscopically, there was marked pale cytoplasmic swelling of the central and peripheral neurons as well as the glial cells in the brain, accompanied by multiorgan infiltration by abundant foamy macrophages. Ultrastructural investigation revealed accumulation of concentrically arranged lamellar material within lysosomes of the affected neurons, macrophages and endothelial cells. Biochemical enzymatic analysis detected sphingomyelinase deficiency and lysosomal storage disease consistent with sphingomyelin lipidosis (Niemann-Pick disease [NPD]) was diagnosed. This is the first report of NPD in a raccoon.

Investigation of high-temperature bright plasma X-ray sources produced in 5-MA X-pinch experiments.

Using solid, machined X-pinch targets driven by currents rising from 0 to 5-6 MA in 60 ns, we observed bright spots of 5-9-keV continuum radiation from 5±2-µm diameter regions. The >6-keV radiation is emitted in about 0.4 ns, and the bright spots are roughly 75 times brighter than the bright spots measured at 1 MA. A total x-ray power of 10 TW peak and yields of 165±20 kJ were emitted from a 3-mm height. The 3-5-keV continuum radiation had a 50-90-GW peak power and 0.15-0.35-kJ yield. The continuum is plausibly from a 1275±75-eV blackbody or alternatively from a 3500±500-eV bremsstrahlung source.

A high resolution and large solid angle x-ray Raman spectroscopy end-station at the Stanford Synchrotron Radiation Lightsource.

We present a new x-ray Raman spectroscopy end-station recently developed, installed, and operated at the Stanford Synchrotron Radiation Lightsource. The end-station is located at wiggler beamline 6-2 equipped with two monochromators-Si(111) and Si(311) as well as collimating and focusing optics. It consists of two multi-crystal Johann type spectrometers arranged on intersecting Rowland circles of 1 m diameter. The first one, positioned at the forward scattering angles (low-q), consists of 40 spherically bent and diced Si(110) crystals with 100 mm diameters providing about 1.9% of 4π sr solid angle of detection. When operated in the (440) order in combination with the Si (311) monochromator, an overall energy resolution of 270 meV is obtained at 6462.20 eV. The second spectrometer, consisting of 14 spherically bent Si(110) crystal analyzers (not diced), is positioned at the backward scattering angles (high-q) enabling the study of non-dipole transitions. The solid angle of this spectrometer is about 0.9% of 4π sr, with a combined energy resolution of 600 meV using the Si (311) monochromator. These features exceed the specifications of currently existing relevant instrumentation, opening new opportunities for the routine application of this photon-in/photon-out hard x-ray technique to emerging research in multidisciplinary scientific fields, such as energy-related sciences, material sciences, physical chemistry, etc.

Compact, rugged in-chamber transmission spectrometers (7-28 keV) for the Sandia Z facility.

We describe a pair of time-integrated transmission spectrometers that are designed to survey 7-28 keV (1.9 to 0.43 Å) x-ray photons produced by experiments on the Sandia Z pulsed power facility. Each spectrometer uses a quartz 10-11 crystal in a Cauchois geometry with a slit to provide spatial resolution along one dimension. The spectrometers are located in the harsh environment of the Z vacuum chamber, which necessitates that their design be compact and rugged. Example data from calibration tests and Z experiments are shown that illustrate the utility of the instruments.

Radiation energetics of ICF-relevant wire-array Z pinches.

Short-implosion-time 20-mm diameter, 300-wire tungsten arrays maintain high peak x-ray powers despite a reduction in peak current from 19 to 13 MA. The main radiation pulse on tests with a 1-mm on-axis rod may be explained by the observable j x B work done during the implosion, but bare-axis tests require sub-mm convergence of the magnetic field not seen except perhaps in >1 keV emission. The data include the first measurement of the imploding mass density profile of a wire-array Z pinch that further constrains simulation models.

Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf.

A 5-month-old Hereford calf with neurologic disease was euthanatized, and a necropsy was done. No gross lesions were seen in the brain. Microscopically, neurons throughout the brain and spinal cord had distended, foamy vacuolated cytoplasm. Ultrastructure showed clear vacuoles filling the neuronal cytoplasm. A lysosomal storage disease was suspected. Sphingomyelinase deficiency was confirmed by biochemical analysis of liver and brain.

Surgical approach to a large dumbbell-shaped pelvic lipoma extending through the obturator foramen.

Lipomas are the most commonly occurring mesenchymal tumors. We report a technique used to manage a patient with a large dumbbell-shaped pelvic lipoma passing through the obturator foramen. Using the combined expertise of an orthopedic and pelvic surgeon, successful and safe removal of this benign dumbbell-shaped pelvic lipoma was achieved.

Influence of baseline deformity definition on subsequent vertebral fracture risk in postmenopausal women.

INTRODUCTION: Approaches for recognizing vertebral fractures remain controversial. METHODS: An age-stratified population sample of 512 postmenopausal women was followed with serial radiographs for up to 12 years (4455 person-years). RESULTS: 112 women experienced a new vertebral fracture (20% reduction in any vertebral height from baseline) within this study period, for an annual age-adjusted (to US white women > or =50 years of age in 2000) incidence of 23 per 1000. Depending on the morphometric definition used, the prevalence of vertebral deformities at baseline ranged from 3 to 90%. A recent method to standardize vertebral heights produced the best agreement with a qualitative clinical reading of the films [kappa (kappa), 0.53]. Almost all of the different baseline definitions predicted future vertebral fractures, but most of the predictive power was attributable to the severe (e.g., 4 SD) deformities included within more generous (e.g., 3 SD) classifications. Whereas the generous definitions were more sensitive, and the restrictive ones more specific, their overall abilities to predict a new vertebral fracture were roughly comparable as evaluated by the c-index (analogous to the area under an ROC curve). CONCLUSION: This result suggests that the choice of a morphometry definition depends on the particular application and, in particular, on whether it is more important to maximize sensitivity or specificity.

Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease.

Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy disease, is an inherited disorder of glycosaminoglycan catabolism caused by deficient activity of the lysosomal hydrolase, N-acetylgalactosamine 4-sulphatase (4S). A variety of prominent visceral and skeletal defects are characteristic, but primary neurological involvement has generally been considered absent. We report here that the feline model of MPS VI exhibits abnormal lysosomal storage in occasional neurones and glia distributed throughout the cerebral cortex. Abnormal lysosomal inclusions were pleiomorphic with some resembling zebra bodies and dense core inclusions typical of other MPS diseases or the membranous storage bodies characteristic of the gangliosidoses. Pyramidal neurones were shown to contain abnormal amounts of GM2 and GM3 gangliosides by immunocytochemical staining and unesterified cholesterol by histochemical (filipin) staining. Further, Golgi staining of pyramidal neurones revealed that some possessed ectopic axon hillock neurites and meganeurites similar to those described in Tay-Sachs and other neuronal storage diseases with ganglioside storage. Some animals evaluated in this study also received allogeneic bone marrow transplants, but no significant differences in neuronal storage were noted between treated and untreated individuals. These studies demonstrate that deficiency of 4S activity can lead to metabolic abnormalities in the neurones of central nervous system in cats, and that these changes may not be readily amenable to correction by bone marrow transplantation. Given the close pathological and biochemical similarities between feline and human MPS VI, it is conceivable that children with this disease have similar neuronal involvement.