Organ-specific hemosiderosis and functional correlation in Chinese patients with thalassemia intermedia and hemoglobin H disease.

We performed MRI assessment in 37 adult Chinese patients with thalassemia intermedia and hemoglobin H disease. Despite abnormal ferritin and liver T2*, only 5% of patients had cardiac hemosiderosis. The two patients with reduced ejection fraction had normal cardiac T2*. Half of the cases showed pituitary and pancreatic iron loading. Subclinical endocrine abnormalities (HOMA, insulin growth factor) showed correlation with pancreatic, pituitary, and cardiac MRI values. Prospective data with serial functional and imaging monitoring is needed to verify the utility for chelation to improve cardiac and endocrine function in this group of patients.

Characterisation of brain disorders and evaluation of therapy by functional and molecular magnetic resonance techniques.

OBJECTIVES: To review advanced functional and molecular magnetic resonance techniques that are currently clinically useful or with potential clinical use in the near future. DATA SOURCES AND EXTRACTION: Literature search of Medline to December 2007 was conducted. Key words search terms were: 'magnetic resonance imaging', 'magnetic resonance spectroscopy', 'brain', 'functional', 'perfusion', 'diffusion', 'diffusion tensor', 'magnetic transfer', 'molecular imaging', 'superparamagnetic iron oxide'. Relevant original papers and review articles were retrieved. STUDY SELECTION: A total of 83 original papers and review articles were systematically analysed. DATA SYNTHESIS: The introduction of modern neuroimaging modalities in recent years has revolutionised investigation of the normal and diseased brain. Among others, magnetic resonance has emerged as the pre-eminent imaging modality, which can produce both high-resolution anatomical images and maps that reflect a variety of physiological parameters relevant to functional assessment and tissue characterisation. Magnetic resonance imaging techniques are now capable of visualising physiological and diseased processes at cellular and molecular levels, including cerebral blood flow, capillary perfusion and permeability, blood oxygenation level-dependent neuronal activation, microscopical motion of water (water diffusion), integrity of axonal fibres, and the molecular transfer of magnetisation within tissues. Magnetic resonance cell trafficking can evaluate the macrophage activity in areas of brain inflammation. Magnetic resonance cell-labelling strategies can be used to monitor the seeding and migration of embryonic stem cells. Magnetic resonance spectroscopy allows the detection of various metabolites that pertain to different biochemical processes in brain tissues. Such metabolites/spectra include: N-acetyl aspartate used as a neuronal marker, choline as a cell membrane metabolism marker, myo-inositol as a glial marker in proton spectrum, and phosphorous whose spectrum provides an in-vivo assessment of the bio-energetic status of tissues. Besides characterisation of brain disorders, magnetic resonance imaging and spectroscopy can improve the planning and monitoring of therapy and contribute to the development of new therapies. CONCLUSION: Advances in neuroimaging have made a great leap in the morphological, metabolic, and functional assessment of the neurological diseases, enabling better diagnosis and management of patients.

The role of immunohistochemistry for smooth-muscle actin, p63, CD10 and cytokeratin 14 in the differential diagnosis of papillary lesions of the breast.

BACKGROUND: Histological differentiation of mammary papillary lesions can be difficult. The evaluation of myoepithelial cells can be helpful, with benign papilloma showing a continuous myoepithelial cell layer, which becomes attenuated or absent in malignant papillary lesions. METHODS: A large series of 100 papillomas (28 papillomas with florid epithelial hyperplasia) and 68 papillary carcinomas (9 invasive, 44 in situ, and 15 ductal carcinomas in situ (DCIS) involving papillomas) of the breast were stained for myoepithelial cells by immunohistochemistry using antibodies to smooth-muscle actin (SMA), p63, CD10 and cytokeratin (CK) 14. RESULTS: In the papillomas, using these four antibodies, myoepithelial cells were positive in 88%, 99%, 91% and 95% of cases, respectively, with SMA showing marked stromal component cell staining and CD10 showing epithelial and stromal staining. CK14 also showed epithelial staining in 71% of papillomas and 96% of papillomas with florid epithelial hyperplasia. In the papillary carcinomas, 36 (53%) cases showed staining of myoepithelial cells that were scattered, discontinuous and diminished in number and the remaining 32 (47%) cases did not show myoepithelial cells. Invasive papillary carcinoma has the lowest proportion (33%) with myoepithelial cells, and DCIS involving papillomas had the highest proportion (87%). CONCLUSIONS: p63 had the highest sensitivity and did not cross-react with stromal cells and only rarely with epithelial cells. CK14 has the added ability to distinguish between florid epithelial hyperplasia involving papilloma and DCIS involving papillomas. CK14 and p63 may be used as an adjunct in assessing difficult papillary lesions of the breast.

Apolipoprotein E epsilon4 allele is associated with the volume of white matter changes in patients with lacunar infarcts.

The relationship between the apolipoprotein E (APOE) exon 4 polymorphism and white matter changes (WMC) in elderly subjects or patients with Alzheimer's disease is controversial. To investigate this polymorphism in relation to WMC in patients with lacunar infarcts, we prospectively observed 67 patients with acute lacunar infarct and 134 age- and sex-matched controls. Genotypes were determined using a nested polymerase chain reaction. WMC were measured quantitatively and were divided into two groups, severe and mild, with the mean volume of WMC as the cut point. Twenty-two patients (33%) had severe WMC. There was a significant difference in the distribution of APOE epsilon2, epsilon3, and epsilon4 alleles between severe and mild WMC groups (P = 0.002). The frequency of epsilon4 alleles was higher in patients with severe WMC than in those with mild WMC (25% vs. 7%, P = 0.003). These results suggest that APOE epsilon4 may exacerbate WMC in patients with lacunar infarcts. Further studies are required to confirm this finding.

Role of radiologic features in the management of papillary lesions of the breast.

OBJECTIVE: The purpose of our study was to assess the role of imaging and core biopsy in the management of patients with papillary lesions of the breast. MATERIALS AND METHODS: Clinical records and mammographic and sonographic findings of 40 women with papillary lesions in the breast were retrieved. The imaging features and cytologic findings were correlated with histologic findings. RESULTS: Fifty-six papillary lesions in 40 patients underwent either mastectomy, segmental duct resection, or excision biopsy. There were three papillary carcinomas, 13 papillaryal lesions with carcinoma in situ, one atypical papilloma, four sclerosed papillomata, and 35 papillomata. Of these lesions, 37.5% (21/56) and 82.1% (46/56) could be detected on mammography and sonography, respectively. Galactography and dilated ducts helped to suggest the papillary nature of the lesions. However, mammography and sonography were not able to predict malignancy (sensitivity, 69% and 56%, respectively; specificity, 25% and 90%; positive predictive value [PPV], 60% and 75%; and negative predictive value [NPV], 33% and 90%). Combined interpretation of mammography and sonography gave a sensitivity of 61%, specificity of 33%, PPV of 85%, and NPV of 13%. Fine-needle aspiration gave a sensitivity of 44%, specificity of 68%, PPV of 31%, and NPV of 79%, whereas core biopsy gave a sensitivity of 82%, specificity of 100%, PPV of 100%, and NPV of 83% in the diagnosis of malignancy. CONCLUSION: Radiologic features are not sufficiently sensitive or specific to differentiate benign from malignant papillary lesions. Fine-needle aspiration and core biopsy have pitfalls, and the need for surgical excision of all papillary lesions should be revisited.

Intravenous leiomyomatosis: computed tomography diagnosis.

Intravenous leiomyomatosis is a rare neoplastic condition characterised by nodular masses of histologically benign smooth muscle growing within veins. In most cases, the disease is confined to the pelvic veins, but involvement may extend to the inferior vena cava and right heart chamber. We report the computed tomography features of a woman who developed extensive intravenous leiomyomatosis and lung metastases, and presented with acute-onset lower limb swelling.

Curve correction effect of rigid spinal orthosis in different recumbent positions in adolescent idiopathic scoliosis (AIS): a pilot MRI study.

In this pilot cross-sectional study, the effectiveness of rigid spinal orthoses in the correction of spinal curvature of 14 patients with moderate adolescent idiopathic scoliosis (AIS) at different recumbent positions (supine, prone, right and left decubitus) was investigated. Using magnetic resonance (MR) imaging and multi-planar reconstruction technique, evaluation of the scoliotic spine in the coronal, sagittal and axial planes and the effect of spinal orthosis on AIS at different recumbent positions was studied. There was significant reduction of coronal Cobb's angle (p < 0.05) with bracing at all four recumbent positions and the maximal reduction was found in the prone position (18% reduction). The sagittal Cobb's angle was only significantly reduced at the supine position while the axial rotation did not change significantly in all positions.

Neuroimaging determinants of cognitive performances in stroke associated with small vessel disease.

BACKGROUND AND PURPOSE: Controversies still exist as to the neuroimaging determinants of cognitive impairment in cerebral small vessel disease (SVD). The authors studied the neuroimaging correlates of cognitive performances among patients with stroke associated with SVD. METHODS: The authors per formed cerebral computed tomography, magnetic resonance imaging, and diffusion-weighted imaging among 74 consecutive patients admitted to the acute stroke unit because of stroke associated with SVD. They examined the association between cognitive performances and the following neuroimaging features: volume of white matter changes (WMC), multiplicity of lacunae, location of lacunae, total cerebral atrophy, and frontal and medial temporal lobe atrophy. RESULTS: Apart from age and education, univariate linear regression analyses revealed that WMC volume, presence of thalamic lacunae, cerebral atrophy, and left frontal lobe atrophy predicted performance on the Mini-Mental State Examination while WMC volume, presence of thalamic infarcts, cerebral atrophy, and frontal lobe atrophy of both sides predicted performance on the Mattis Dementia Rating Scale-Initiation/Preservation subscale. In the multivariate analyses, education (R2=0.22, P<.001), left frontal lobe atrophy (R2=0.10, P=.004), and presence of thalamic lacunae (R2=0.04, P=.049) were found to predict performance on the Mini-Mental State Examination while age (R2=0.23, P<.001) and presence of thalamic lacunae (R2=0.08, P=.011) were found to predict performance on the Mattis Dementia Rating Scale-Initiation/Preservation. CONCLUSIONS: Among patients with stroke associated with SVD, thalamic lacunae and frontal lobe atrophy are key determinants of cognitive performances.

Magnetic resonance coronary angiography with 3D TrueFISP: breath-hold versus respiratory gated imaging.

To compare the diagnostic accuracy of coronary magnetic resonance angiography with three-dimensional (3D) trueFISP breath-hold and respiratory gated techniques for the detection of significant coronary artery stenosis. 15 patients who recently underwent elective coronary angiogram were studied and a total of 60 arteries and 48 arteries were assessed by breath-hold and respiratory gated 3D trueFISP techniques, respectively. The image quality, length of artery visualized and the presence or absence of significant coronary artery stenosis were recorded. 83.3% and 81.7% of the arteries obtained with the respiratory gated and the breath-hold techniques, respectively, had an image quality suitable for further analysis. There was no significant difference in the length of artery visualized. Sensitivity and specificity of 80%, 100% and 75% and 100%, respectively, were obtained with the breath-hold and respiratory gated techniques in detecting significant stenosis in the coronary arteries. Both techniques have moderate sensitivity and high specificity in detection of significant stenosis in the visualized segments of the major coronary arteries. However, they cannot replace conventional coronary angiogram for diagnosing coronary artery disease at present. Further studies are required to evaluate whether breath-hold approach is more efficient, therefore should be performed first and respiratory gated approach reserved for those who cannot breath-hold.

Cerebral blood flow (CBF)-directed management of ventilated head-injured patients.

OBJECTIVE: Ischaemic brain damage has been shown to be an important contributing factor causing head injury fatality. Maintenance of an adequate cerebral perfusion pressure is difficult in patients with elevated intracranial pressure (ICP) and deranged cerebral vasoreactivity. Thirty-five cases of ventilated moderate-to-severe head-injured patients were prospectively studied, correlating their cerebral haemodynamic abnormalities, neurochemical disturbances (using microdialysis methodology) and clinical outcome. METHODS: Cerebral haemodynamic abnormalities were defined and classified by transcranial Doppler ultrasonography (TCD) and stable xenon-CT cerebral blood flow measurements (XeCT) into their status of CO2 reactivity, pressure autoregulation, hyperaemia or non-hyperaemia. Two-hour episodes of these abnormalities with and without haemodynamic intervention were followed in their changes in ICP, CPP, intracerebral metabolites and finally their clinical outcome. RESULTS: Loss of CO2 reactivity was associated with a significantly higher ICP, increasing intracerebral metabolites (lactate, glutamate and glycerol) and invariably a fatal outcome. Impaired pressure autoregulation was also associated with an elevated ICP, but no significant difference in intracerebral metabolites and incidence of favourable clinical outcome. Patients with intact CO2 reactivity and impaired pressure autoregulation were treated with an elevated CPP in 32 episodes, resulting in a significant reduction in ICP, intracerebral glutamate and glycerol and non-survival. In patients with intact CO2 reactivity and impaired pressure autoregulation, eleven episodes of hyperaemia were identified by XeCT. A modest 20%, blood pressure reduction resulted in a trend towards a reduction of ICP, intracerebral glutamate and glycerol and non-survival. CONCLUSIONS: The need for haemodynamic intervention in this group of ventilated patients with moderate-to-severe head inury can be made logical when these abnormalities are identified daily. The success of management was reflected by a stable or improved ICP, CPP, intracerebral metabolic deranagement and survival.

B0 images obtained from diffusion-weighted echo planar sequences for the detection of intracerebral bleeds.

BACKGROUND AND PURPOSE: To evaluate the accuracy of B0 echo planar imaging (EPI) sequences for the detection of intracerebral bleeds. METHODS: One hundred patients with acute strokes had magnetic resonance imaging and computed tomography (CT) examinations performed within 48 hours after the onset of symptoms. The detectability of intracerebral bleeds by the B0 EPI sequences was assessed. The results were compared to the gradient echo (GRE) sequence and CT brain examinations. The results of the GRE sequences were used as the gold standard. RESULTS: The B0 EPI sequences detected 11 out of 11 acute, intracerebral hematomas; 6 out of 8 acute hemorrhagic strokes; 2 out of 2 acute, intraventricular hemorrhages; 8 out of 8 old hemorrhagic infarcts; 1 out of 1 subarachnoid hemorrhages; and 11 out of 22 patients with microbleeds. For the detection of acute, intracerebral hematomas and acute, hemorrhagic infarcts, B0 EPI sequences had a sensitivity of 89.5%, a specificity of 100%, and an accuracy of 98%. CT had a sensitivity of 57.9%, a specificity of 100%, and an accuracy of 92%. B0 EPI sequences did not miss any acute or chronic hemorrhages detected by CT examinations. CONCLUSIONS: B0 EPI sequences could not replace GRE images for the detection of both acute and chronic hemorrhages. Their sensitivity for the detection of acute and chronic blood products, however, was comparable, if not superior, to that of CT examinations.

Magnetic resonance cholangiography in children.

Magnetic resonance cholangiography has been shown to be useful in the evaluation of hepatobiliary problems in paediatric patients. Its clinical application in biliary atresia, choledochal cyst, cholelithiasis, bile plug syndrome and liver transplant are illustrated by the following cases.

Is transcranial Doppler ultrasonography (TCD) good enough in determining CO2 reactivity and pressure autoregulation in head-injured patients?

Disturbance of cerebral haemodynamic status, cerebral vasoreactivity (CVR) to carbon dioxide (CO2) and pressure autoregulatory response (PAR) have been shown to be associated with severity of head injury and to correlate with neurological condition and clinical outcome. Information regarding impaired CVR and/or lost PAR has been shown to be of prognostic value in treating head-injured patients. The classic method of evaluating cerebral haemodynamic status requires an invasive measurement of cerebral blood flow (CBF) such as the technique of Kety and Schmidt or by the 133Xe inhalation method. Transcranial Doppler ultrasonography (TCD) is a simple and non-invasive method for its assessment. In this study, cerebral haemodynamic status as determined by TCD was compared with that of stable xenon-enhanced cerebral blood flow (XeCBF) which is generally regarded as a gold standard in CBF measurement with minimal complication, suggesting that employing CO2 and blood pressure challenge with TCD measurement to assess the CVR and PAR in head-injured patients, provides a relatively less invasive method and can be repeated at least daily to assess the cerebrovascular autoregulatory reserve.

Magnetic resonance imaging in ischaemic heart disease.

Magnetic resonance imaging has an increasing role in the assessment of ischaemic heart disease. Its superb spatial and temporal resolution currently allows accurate assessment of cardiac function, regional wall motion, and the extent of myocardial infarction. Regional myocardial perfusion can also be assessed, most commonly by a first-pass technique. Non-invasive imaging of the coronary arteries by various magnetic resonance imaging techniques represents a major advance in recent years. In the foreseeable future, magnetic resonance imaging may become a single, comprehensive examination for the assessment of ischaemic heart disease.

Restrictive right ventricular physiology and right ventricular fibrosis as assessed by cardiac magnetic resonance and exercise capacity after biventricular repair of pulmonary atresia and intact ventricular septum.

BACKGROUND: The hypertrophic myocardium, myocardial fiber disarray, and endocardial fibroelastosis in pulmonary atresia and intact ventricular septum (PAIVS) may provide anatomic substrates for restrictive filling of the right ventricle. HYPOTHESIS: Restrictive right ventricle (RV) physiology is related to RV fibrosis and exercise capacity in patients after biventricular repair of PAIVS. METHODS: A total of 27 patients, age 16.5 +/- 5.6 years, were recruited after biventricular repair of PAIVS. Restrictive RV physiology was defined by the presence of antegrade diastolic pulmonary flow and RV fibrosis assessed by late gadolinium enhancement (LGE) cardiac magnetic resonance. Their RV function was compared with that of 27 healthy controls and related to RV LGE score and exercise capacity. RESULTS: Compared with controls, PAIVS patients had lower tricuspid annular systolic and early diastolic velocities, RV global longitudinal systolic strain, systolic strain rate, and early and late diastolic strain rates (all P < 0.05). A total of 22 (81%, 95% confidence interval: 62%-94%) PAIVS patients demonstrated restrictive RV physiology. Compared to those without restrictive RV physiology (n = 5), these 22 patients had lower RV global systolic strain, lower RV systolic and early diastolic strain rates, higher RV LGE score, and a greater percent of predicted maximum oxygen consumption (all P < 0.05). CONCLUSION: Restrictive RV physiology reflects RV diastolic dysfunction and is associated with more severe RV fibrosis but better exercise capacity in patients after biventricular repair of PAIVS.

Genetic predisposition of white matter infarction with protein S deficiency and R355C mutation.

BACKGROUND: The association between protein S deficiency (PSD) and ischemic stroke is controversial and warrants further investigation. METHODS: We conducted a genotype and MRI correlation study in a Chinese family in which hereditary PSD cosegregated with premature ischemic strokes. Six out of 11 family members inherited PSD type III in an autosomal dominant manner. RESULTS: Among all PSD members, a novel missense mutation 1063C→T in exon 10 of protein S alpha (PROS1) was identified, which encoded a substitution of arginine to cysteine at position 355 (R355C) in the first globular domain of laminin A of protein S. Wild-type PROS1 sequences were retained in non-PSD members. MRI detected deep white matter infarctions predominantly distributed in the borderzone regions. The infarct topography was homogeneous in all adult mutant carriers. By contrast, cerebral infarction was absent in nonmutant carriers. Extensive investigation in the family did not reveal any confounding stroke risk. Haplotype analysis with high-density single nucleotide polymorphism markers revealed a 6.1-Mb minimally rearranged region (rs12494685 to rs1598240) in 3q11.2, lod = 3.0. Among the 7 annotated genes in this region, PROS1 is known to be associated with thrombotic disorders. MRI screening in an additional 10 PSD families without R355C showed no cerebral infarction. CONCLUSIONS: PROS1 R355C mutation cosegregated with PSD type III and premature white matter infarctions in the index family. The findings substantiate an association between PSD and stroke. Study of the mechanism underlying this association may improve our understanding of premature cryptogenic white matter infarction.

New two-dimensional global longitudinal strain and strain rate imaging for assessment of systemic right ventricular function.

OBJECTIVES: To determine the usefulness of new two-dimensional strain indices, based on speckle tracking imaging, for assessment of systemic right ventricular (RV) function after an atrial switch operation for transposition of the great arteries. DESIGN: Cross-sectional study. SETTING: Tertiary paediatric cardiac centre. METHODS: 26 patients, mean (SD) age 21.0 (3.6) years at 19.9 (3.2) years after an atrial switch operation, and 27 age-matched controls were studied. Two-dimensional imaging at the four-chamber view was obtained with tracing of the entire RV endocardial border. The RV global longitudinal strain (GLS) and GLS rate were derived using automated software (EchoPAC, GE Medical) and correlated with tissue Doppler-derived RV isovolumic acceleration (IVA), and, in the patient cohort, with cardiac magnetic resonance-derived RV ejection fraction. RESULTS: Intra- and interobserver variability for measurement of GLS, as determined from the mean (SD) of differences in two consecutive results from 20 studies, were 0.06 (1.39)% and 0.24 (1.77)%, respectively. Compared with controls, patients had lower RV GLS (17.1 (1.9)% vs 26.3 (2.9)%, p<0.001), a reduced GLS rate (0.78 (0.11)/s vs 1.33 (0.23)/s, p<0.001), lower RV IVA (1.10 (0.36) m/s(2) vs 1.56 (0.53) m/s(2), p<0.001) and increased RV myocardial performance index (0.52 (0.09) vs 0.38 (0.09), p<0.001). Both RV GLS and GLS rate correlated positively with RV IVA (r = 0.43, p = 0.001 and r = 0.46, p<0.001, respectively), and negatively with RV myocardial performance index (r = -0.65, p<0.001 and r = -0.57, p<0.001, respectively). In patients, the GLS rate correlated positively with RV ejection fraction (r = 0.62, p = 0.001). CONCLUSIONS: Two-dimensional RV GLS and GLS rate are new, potentially useful indices for assessment of systemic RV function.

Factors affecting the palpability of breast lesion by self-examination.

INTRODUCTION: This study aims to assess the accuracy of detection of breast lesion by breast self-examination and to assess different factors affecting the accuracy. METHODS: All consecutive Chinese female patients, who attended our breast imaging unit in 2001, completed our questionnaire, had retrievable hard copy films, and had more than three years clinical follow-up, were recruited for this study. Different factors, such as age, menopausal status, previous experience of breastfeeding, family history of breast cancer, previous history of mastectomy or lumpectomy, hormonal therapy, oral contraceptive pills and previous history of mammography, were correlated with accuracy in self-detection of breast lesions retrospectively. The nature, size and location of the lesion, and breast size based on imaging, were also correlated with the accuracy in self-detection of breast lesions. RESULTS: A total of 163 questionnaires were analysed. 111 patients detected a breast lesion themselves and 24 of these lesions were false-positives. A total of 173 lesions (27 cancerous, 146 benign lesions) were documented by either ultrasonography and/or mammography, and confirmed by either histology or three-year clinical follow-up. The overall sensitivity in detecting both benign and malignant breast lesions was 71% when number of breast lesions was used as the denominator, and up to 78% sensitivity was achieved when number of patients was used as the denominator. History of mastectomy, and size and nature of the lesions were found to affect the accuracy of self-detection of breast lesions. CONCLUSION: Overall, breast self-examinations were effective in the detection of breast lesions and factors such as size of lesion, nature of the lesion and history of mastectomy affect the accuracy of the detections. Breast self-examination should be promoted for early detection of breast cancer.