Homocystinuria, typical brain MRI findings

An 8-year-old male presented with recent history of headache, several episodes of convulsion and visual field deficits. Brain MRI revealed multiple T2 hypersignal intensity foci within the left cerebral peduncle, basal ganglia, thalami and left parietal cortex, believed to represent ischemia. There was also iso–slightly hyperintense signal at the site of superior sagittal sinus, replacing the normal flow void pattern, suggestive for dural sinus thrombosis. After gadolinium injection thrombosis of superior sagittal sinus was confirmed (Fig A). Evaluation of orbits disclosed posterior dislocation of the right lens (Fig B). These findings were compatible with the diagnosis of homocystinuria which was later confirmed by laboratory data

Deferoxamine preconditioning to restore impaired HIF-1α-mediated angiogenic mechanisms in adipose-derived stem cells from STZ-induced type 1 diabetic rats

Objectives: Both excessive and insufficient angiogenesis are associated with progression of diabetic complications, of which poor angiogenesis is an important feature. Currently, adipose-derived stem cells (ADSCs) are considered to be a promising source to aid therapeutic neovascularization. However, functionality of these cells is impaired by diabetes which can result from a defect in hypoxia-inducible factor-1 (HIF-1), a key mediator involved in neovascularization. In the current study, we sought to explore effectiveness of pharmacological priming with deferoxamine (DFO) as a hypoxia mimetic agent, to restore the compromised angiogenic pathway, with the aid of ADSCs derived from streptozotocin (STZ)-induced type 1 diabetic rats ('diabetic ADSCs'). Materials and methods: Diabetic ADSCs were treated with DFO and compared to normal and non-treated diabetic ADSCs for expression of HIF-1α, VEGF, FGF-2 and SDF-1, at mRNA and protein levels, using qRT-PCR, western blotting and ELISA assay. Activity of matrix metalloproteinases -2 and -9 were measured using a gelatin zymography assay. Angiogenic potential of conditioned media derived from normal, DFO-treated and non-treated diabetic ADSCs were determined by in vitro (in HUVECs) and in vivo experiments including scratch assay, three-dimensional tube formation testing and surgical wound healing models. Results: DFO remarkably enhanced expression of noted genes by mRNA and protein levels and restored activity of matrix metalloproteinases -2 and -9. Compromised angiogenic potential of conditioned medium derived from diabetic ADSCs was restored by DFO both in vitro and in vivo experiments. Conclusion: DFO preconditioning restored neovascularization potential of ADSCs derived from diabetic rats by affecting the HIF-1α pathway. © 2015 John Wiley & Sons Ltd

Guided random walk calculation of energies and <\sq {r^2} > values of the 1Σg^1\Sigma_g state of H_2 in a magnetic field

Energies and spatial observables for the $^1\Sigma_g$ state of the hydrogen molecule in magnetic fields parallel to the proton-proton axis are calculated with a guided random walk Feynman-Kac algorithm. We demonstrate that the accuracy of the results and the simplicity of the method may prove it a viable alternative to large basis set expansions for small molecules in applied fields.Comment: 10 pages, no figure

An unusual case of persistent groin pain after total hip arthroplasty: a case report

ABSTRACT: INTRODUCTION: Arthroplasty is a well-established routine elective surgical procedure in orthopaedics. To a great extent, diagnosis, treatment and post-operative rehabilitation in these patients is standardised. In a busy clinic, surgeons from time to time tend to focus their attention on common causes of joint pain, but it may lead them to overlook sinister but less common pathologies. Here we report a case of a patient with groin pain due to pre-operatively undetected pelvic metastases from a pyeloureteral carcinoma who underwent total hip arthroplasty. There are several case reports which deal with primary or secondary tumours which were either discovered at the time of replacement surgery or developed at the site of prosthesis years after total hip or knee replacement. To the best of our knowledge, this is the first case report in which a metastatic cancer was missed pre-operatively and intra-operatively both by the radiologist and by the orthopaedic surgeon and should be reported so that surgeons are reminded to be careful when dealing with seemingly routine cases. CASE PRESENTATION: A 79-year-old Caucasian woman presented to the arthroplasty clinic with groin pain. Initial radiographs showed subtle bilateral abnormalities in the pelvis. Neither the radiologist nor the orthopaedic surgeon recognized it. A diagnosis of osteoarthritis of the hip was established, and she underwent total hip arthroplasty. Despite initial improvement, the patient came back with worsening hip pain three months later. Further radiological examination revealed multiple metastatic lesions throughout the pelvis due to a pyeloureteral carcinoma. CONCLUSIONS: This case report emphasizes the importance of meticulous, unbiased pre-operative assessment of patients and their radiographs, even in so-called routine clinical cases. Often subtle radiological changes are classed as normal, especially if they are bilateral. Further radiological imaging should be recommended in all cases where unexplained clinical features or radiological findings are present

The trochlear isometric point is different in patients with recurrent patellar instability compared to controls: a radiographical study

Purpose: The purpose of the study was to investigate the theoretical isometric point based of the curve of the femoral groove and relating it to the origin of the MPFL femoral tunnel on lateral radiograph by comparing a patellar instability cohort with a control cohort. Methods: From a Patellar Instability database the radiographs of 40 consecutive patients were analysed to define Schöttle’s point, and the arc of the circle of the trochlear groove. A comparison population of 20 radiographs from comparable patients with tibiofemoral joint disorders was used as a control. The distance from Schöttle’s point to the most anterior part of the groove (extension) was also compared to the distance to the distal end of the roof of the notch (flexion). Results: The trochlea was circular in the controls but not the Patellofemoral Instability cohort where trochlear dysplasia is usually present. The difference between the extension and flexion length was a mean of − 2.0 ± 0.5 mm in the controls and + 6.0 ± 0.5 mm in the patellofemoral cohort. In neither cohort did the centre of the circle correspond to Schöttle’s point. The extension distance correlated with the boss height. Conclusions: The dysplastic trochlea is not circular and the centre of the best matched circle was different to the control trochleae which were circular. The circle centres did not correlate with Schöttle’s point for either cohort, and was more proximal in the Patellofemoral Instability cohort. Clinical relevance: For the MPFL to have equal tension throughout flexion within the groove, the length should not change. In normal knees the MPFL does not behave isometrically. The change in length, as measured from Schöttle’s point to the trochlea, was greater for patellofemoral instability patients explaining why an isolated MPFL reconstruction in the presence of severe trochlear dysplasia risks poor outcomes

The global burden of cancer attributable to risk factors, 2010-19 : a systematic analysis for the Global Burden of Disease Study 2019

Background Understanding the magnitude of cancer burden attributable to potentially modifiable risk factors is crucial for development of effective prevention and mitigation strategies. We analysed results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 to inform cancer control planning efforts globally. Methods The GBD 2019 comparative risk assessment framework was used to estimate cancer burden attributable to behavioural, environmental and occupational, and metabolic risk factors. A total of 82 risk-outcome pairs were included on the basis of the World Cancer Research Fund criteria. Estimated cancer deaths and disability-adjusted life-years (DALYs) in 2019 and change in these measures between 2010 and 2019 are presented. Findings Globally, in 2019, the risk factors included in this analysis accounted for 4.45 million (95% uncertainty interval 4.01-4.94) deaths and 105 million (95.0-116) DALYs for both sexes combined, representing 44.4% (41.3-48.4) of all cancer deaths and 42.0% (39.1-45.6) of all DALYs. There were 2.88 million (2.60-3.18) risk-attributable cancer deaths in males (50.6% [47.8-54.1] of all male cancer deaths) and 1.58 million (1.36-1.84) risk-attributable cancer deaths in females (36.3% [32.5-41.3] of all female cancer deaths). The leading risk factors at the most detailed level globally for risk-attributable cancer deaths and DALYs in 2019 for both sexes combined were smoking, followed by alcohol use and high BMI. Risk-attributable cancer burden varied by world region and Socio-demographic Index (SDI), with smoking, unsafe sex, and alcohol use being the three leading risk factors for risk-attributable cancer DALYs in low SDI locations in 2019, whereas DALYs in high SDI locations mirrored the top three global risk factor rankings. From 2010 to 2019, global risk-attributable cancer deaths increased by 20.4% (12.6-28.4) and DALYs by 16.8% (8.8-25.0), with the greatest percentage increase in metabolic risks (34.7% [27.9-42.8] and 33.3% [25.8-42.0]). Interpretation The leading risk factors contributing to global cancer burden in 2019 were behavioural, whereas metabolic risk factors saw the largest increases between 2010 and 2019. Reducing exposure to these modifiable risk factors would decrease cancer mortality and DALY rates worldwide, and policies should be tailored appropriately to local cancer risk factor burden. Copyright (C) 2022 The Author(s). Published by Elsevier Ltd. This is an Open Access article under the CC BY 4.0 license.Peer reviewe

The global burden of cancer attributable to risk factors, 2010–19: a systematic analysis for the Global Burden of Disease Study 2019

BACKGROUND: Understanding the magnitude of cancer burden attributable to potentially modifiable risk factors is crucial for development of effective prevention and mitigation strategies. We analysed results from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019 to inform cancer control planning efforts globally. METHODS: The GBD 2019 comparative risk assessment framework was used to estimate cancer burden attributable to behavioural, environmental and occupational, and metabolic risk factors. A total of 82 risk–outcome pairs were included on the basis of the World Cancer Research Fund criteria. Estimated cancer deaths and disability-adjusted life-years (DALYs) in 2019 and change in these measures between 2010 and 2019 are presented. FINDINGS: Globally, in 2019, the risk factors included in this analysis accounted for 4·45 million (95% uncertainty interval 4·01–4·94) deaths and 105 million (95·0–116) DALYs for both sexes combined, representing 44·4% (41·3–48·4) of all cancer deaths and 42·0% (39·1–45·6) of all DALYs. There were 2·88 million (2·60–3·18) risk-attributable cancer deaths in males (50·6% [47·8–54·1] of all male cancer deaths) and 1·58 million (1·36–1·84) risk-attributable cancer deaths in females (36·3% [32·5–41·3] of all female cancer deaths). The leading risk factors at the most detailed level globally for risk-attributable cancer deaths and DALYs in 2019 for both sexes combined were smoking, followed by alcohol use and high BMI. Risk-attributable cancer burden varied by world region and Socio-demographic Index (SDI), with smoking, unsafe sex, and alcohol use being the three leading risk factors for risk-attributable cancer DALYs in low SDI locations in 2019, whereas DALYs in high SDI locations mirrored the top three global risk factor rankings. From 2010 to 2019, global risk-attributable cancer deaths increased by 20·4% (12·6–28·4) and DALYs by 16·8% (8·8–25·0), with the greatest percentage increase in metabolic risks (34·7% [27·9–42·8] and 33·3% [25·8–42·0]). INTERPRETATION: The leading risk factors contributing to global cancer burden in 2019 were behavioural, whereas metabolic risk factors saw the largest increases between 2010 and 2019. Reducing exposure to these modifiable risk factors would decrease cancer mortality and DALY rates worldwide, and policies should be tailored appropriately to local cancer risk factor burden

Dithered sweep lengths - A new technique for attenuating harmonic noise in vibroseis data

A significant drawback of the use of hydraulic vibrators as the source for land seismic surveys is the contamination of their transmitted signal with harmonics. The variphase technique involves transmitting multiple sweeps with different initial phases. After the records are stacked together the harmonics are attenuated. In this paper we describe an alternate approach which involves stacking sweeps with slightly varying (dithered) lengths. The efficiency of the technique improves as the number of sweeps and the range of sweep lengths are increased. Ideally, the sweep lengths should be regularly spaced rather than randomly selected. Overall, the technique is not as effective as variphase, although the difference is relatively minor. However, the dithered sweep-length technique does have advantages in that it is not sensitive to missing sweeps, and it offers the ability to reduce harmonics if phase rotation is not possible