Biomedical subjects

Serena Counsell

Publications and source records attributed to Serena Counsell.

13 recordsLinked to original sources

PubMed2006

Current and future applications of magnetic resonance imaging and spectroscopy of the brain in hepatic encephalopathy.

Hepatic encephalopathy (HE) is a common neuro-psychiatric abnormality, which complicates the course of patients with liver disease and results from hepatocellular failure and/or portosystemic shunting. The manifestations of HE are widely variable and involve a spectrum from mild subclinical disturbance to deep coma. Research interest has focused on the role of circulating gut-derived toxins, particularly ammonia, the development of brain swelling and changes in cerebral neurotransmitter systems that lead to global CNS depression and disordered function. Until recently the direct investigation of cerebral function has been difficult in man. However, new magnetic resonance imaging (MRI) techniques provide a non-invasive means of assessment of changes in brain volume (coregistered MRI) and impaired brain function (fMRI), while proton magnetic resonance spectroscopy (1H MRS) detects changes in brain biochemistry, including direct measurement of cerebral osmolytes, such as myoinositol, glutamate and glutamine which govern processes intrinsic to cellular homeostasis, including the accumulation of intracellular water. The concentrations of these intracellular osmolytes alter with hyperammonaemia. MRS-detected metabolite abnormalities correlate with the severity of neuropsychiatric impairment and since MR spectra return towards normal after treatment, the technique may be of use in objective patient monitoring and in assessing the effectiveness of various treatment regimens.

Astrocytes↗

PubMed2006

Magnetic resonance imaging in perinatal brain injury: clinical presentation, lesions and outcome.

Neonatal MR imaging is invaluable in assessing the term born neonate who presents with an encephalopathy. Successful imaging requires adaptations to both the hardware and the sequences used for adults. The perinatal and postnatal details often predict the pattern of lesions sustained and are essential for correct interpretation of the imaging findings, but additional or alternative diagnoses in infants with apparent hypoxic ischaemic encephalopathy should always be considered. Perinatally acquired lesions are usually at their most obvious between 1 and 2 weeks of age. Very early imaging (<3 days) may be useful to make management decisions in ventilated neonates, but abnormalities may be subtle at that stage. Diffusion-weighted imaging is clinically useful for the early identification of ischaemic white matter in the neonatal brain but is less reliable in detecting lesions within the basal ganglia and thalami. The pattern of lesions seen on MRI can predict neurodevelopmental outcome. Additional useful information may be obtained by advanced techniques such as MR angiography, venography and perfusion-weighted imaging. Serial imaging with quantification of both structure size and tissue damage provides invaluable insights into perinatal brain injury.

Brain↗

PubMed2006

Reduced fractional anisotropy on diffusion tensor magnetic resonance imaging after hypoxic-ischemic encephalopathy.

OBJECTIVE: Apparent diffusion coefficients (ADC) that are measured by diffusion-weighted imaging are reduced in severe white matter (WM) and in some severe basal ganglia and thalamic (BGT) injury in infants who present with hypoxic-ischemic encephalopathy (HIE). However, ADC values may pseudonormalize or even be high during this time in some less severe but clinically significant injuries. We hypothesized that fractional anisotropy (FA), a measure of the directional diffusivity of water made using diffusion tensor imaging, may be abnormal in these less severe injuries; therefore, the objective of this study was to use diffusion tensor imaging to measure ADC and FA in infants with moderate and severe hypoxic-ischemic brain injury. METHODS: Twenty infants with HIE and 7 normal control infants were studied. All infants were born at >36 weeks' gestational age, and MRI scans were obtained within 3 weeks of delivery. Data were examined for normality, and comparisons were made using analysis of variance or Kruskal-Wallis as appropriate. RESULTS: During the first week, FA values were decreased with both severe and moderate WM and BGT injury as assessed by conventional imaging, whereas ADC values were reduced only in severe WM injury and some severe BGT injury. Abnormal ADC values pseudonormalized during the second week, whereas FA values continued to decrease. CONCLUSION: FA is reduced in moderate brain injury after HIE. A low FA may reflect a breakdown in WM organization. Moderate BGT injury may result in atrophy but not overt infarction; it is possible that delayed apoptosis is more marked than immediate necrosis, and this may account for normal early ADC values. The accompanying low FA within some severe and all moderate gray matter lesions, which is associated with significant later impairment, may help to confirm clinically significant abnormality in infants with normal ADC values.

Anisotropy↗

PubMed2006

Nonlinear phase correction of navigated multi-coil diffusion images.

Cardiac pulsatility causes a nonrigid motion of the brain. In multi-shot diffusion imaging this leads to spatially varying phase changes that must be corrected. A conjugate gradient based reconstruction is presented that includes phase changes measured using two-dimensional navigator echoes, coil sensitivity information, navigator-determined weightings, and data from multiple coils and averages.A multi-shot echo planar sequence was used to image brain regions where pulsatile motion is not uniform. Reduced susceptibility artifacts were observed compared to a clinical single-shot sequence. In a higher slice, fiber directions derived from single-shot data show distortions from anatomical scans by as much as 7 mm compared to less than 2 mm for our multi-shot reconstructions. The reduced distortions imply that phase encoding can be applied in the shorter left-right direction, enabling time savings through the use of a rectangular field of view. Higher resolution diffusion imaging in the spine permits visualization of a nerve root.

Algorithms↗

PubMed2004

Magnetic resonance imaging in neonatal encephalopathy.

Magnetic resonance imaging may provide invaluable information in the term born neonate with encephalopathy. However, both hardware and sequences may need adaptation from normal adult protocols. Sedation is often required to obtain good quality imaging, but anaesthesia is not necessary in this population. The perinatal history may predict the pattern of brain lesions, which, in turn, may be used to predict the neurodevelopmental outcome. Image interpretation is not easy and requires a full clinical history in addition to experience of both normal and abnormal neonatal brain appearances. Lesions evolve rapidly, and perinatally acquired leasions are at the most obvious 1-2 weeks from delivery. Early imaging in the first few days from presentation should always include diffusion-weighted sequences to identify early ischaemic change. Advanced techniques such as venography, angiography and perfusion-weighted imaging may be useful in certain situations, and serial imaging may help differentiate perinatal-acquired lesions from other pathologies.

Angiography↗

PubMed2004

Correction of high-order eddy current induced geometric distortion in diffusion-weighted echo-planar images.

Diffusion-weighted images acquired with the echo-planar imaging technique are highly sensitive to eddy current induced geometric distortions that vary with the magnitude and direction of the diffusion sensitizing gradients. Such distortions cause misalignment of images acquired with different diffusion strengths and orientations. This in turn can result in errors when calculating maps of the apparent diffusion coefficient and diffusion tensor. Previous correction methods either require separate calibration data or only deal with low-order errors. In this study, we demonstrate a method that can correct for higher-order errors. The method relies on collecting pairs of images with diffusion sensitizing gradients reversed. This paired data are first corrected for shifts and linear distortion and then combined to cancel higher-order errors. All acquired data contribute to the final results. The method has been tested by simulation, on phantoms, on adult volunteers, and on neonatal brain examinations.

Adult↗

PubMed2004

MR imaging of the neonatal brain at 3 Tesla.

3 Telsa MR scanners are now becoming more widely available and 3 Telsa is likely to become the filed strength of choice for clinical imaging of the brain. The neonatal brain can be safely and successfully imaged at 3 Telsa. The improved signal to noise afforded by a higher field strength may be used to improve image quality or shorten acquisition times. This may be exploited for conventional T1 and T2 weighted imaging and also for advanced techniques such as diffusion tensor imaging, angiography and functional magnetic resonance studies.

Blood Vessels↗

PubMed2004

Magnetic resonance imaging of muscle in nemaline myopathy.

We report muscle MRI findings of 10 patients from 8 families with nemaline myopathy. Patients with involvement of the nebulin (NEB) gene showed a consistent pattern of selective muscle involvement corresponding to clinical severity. In mild cases, there was complete sparing of thigh muscles and selective involvement of tibialis anterior and soleus. In moderate cases, there was predominant involvement of rectus femoris, vastus lateralis and hamstring muscles and diffuse involvement of anterior compartment and soleus. Patients with nemaline myopathy secondary to mutations in the skeletal muscle alpha-actin (ACTA1) gene showed diffuse involvement of thigh and leg muscles with relative sparing of the gastrocnemii. Selective muscle involvement in both genetic categories was distinct from what has been reported in other congenital myopathies. We conclude that muscle MRI may be applied to distinguish nemaline myopathy from other conditions with similar clinical and histopathological features, to supplement clinical assessment in individual patients and to help direct genetic testing.

Actins↗

PubMed2004

Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations.

Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are associated with a wide range of phenotypes, comprising central core disease and distinct subgroups of multi-minicore disease. We report muscle MRI findings of 11 patients from eight families with RYR1 mutations (n=9) or confirmed linkage to the RYR1 locus (n=2). Patients had clinical features of a congenital myopathy with a wide variety of associated histopathological changes. Muscle MR images showed a consistent pattern characterized by (a) within the thigh: selective involvement of vasti, sartorius, adductor magnus and relative sparing of rectus, gracilis and adductor longus; (b) within the lower leg: selective involvement of soleus, gastrocnemii and peroneal group and relative sparing of the tibialis anterior. Our findings indicate that patients with RYR1-related congenital myopathies have a recognizable pattern of muscle involvement irrespective of the variability of associated histopathological findings. Muscle MRI may supplement clinical assessment and aid selection of genetic tests particularly in patients with non-diagnostic or equivocal histopathological features.

Adolescent↗

PubMed2004

Diffusion-weighted magnetic resonance imaging in term perinatal brain injury: a comparison with site of lesion and time from birth.

OBJECTIVE: The aim of this study was to establish a more objective method for confirming tissue injury in term neonates who present with early seizures that are believed to be hypoxic-ischemic in origin. METHODS: We studied the relationship between contemporaneous diffusion-weighted magnetic resonance imaging and conventional magnetic resonance imaging in 63 symptomatic term-born neonates and 15 control term infants performed in the neonatal period. Apparent diffusion coefficients (ADC) were obtained for multiple regions of the brain. RESULTS: ADC values in the 15 control infants were 1 (1-1.15) (median [range]) x 10(-3)/mm2/second in the thalami and 1.1 (1-1.3) x 10(-3)/mm2/second in the lentiform nuclei, 1.5 (1.3-1.7) x 10(-3)/mm2/second in the centrum semiovale, 1.6 (1.46-1.7) x 10(-3)/mm2/second in the anterior white matter (WM), and 1.55 (1.35-1.85) x 10(-3)/mm2/second in the posterior WM with little variation over time. ADC values were significantly reduced in the first week after severe injury to either WM or basal ganglia and thalami (BGT), but values normalized at the end of the first week and then increased during week 2. ADC values were either normal or increased in moderate BGT and WM lesions when compared with controls. ADC values < 1.1 x 10(-3)/mm2/second were always associated with WM infarction and values <0.8 x 10(-3)/mm2/second with thalamic infarction. CONCLUSION: A reduced ADC soon after delivery allows the presence of tissue infarction to be confirmed at a time when conventional imaging changes may be subtle. However, as both moderate WM and BGT lesions may have normal or increased ADC values, a normal ADC value during the first week does not signify normal tissue. ADC values should always be measured in combination with visual analysis of both conventional and diffusion-weighed images for maximum detection of pathologic tissue, and the timing of the scan needs to be taken into account when interpreting the results.

Brain↗

PubMed2002

Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

We report clinical and imaging findings in six cases from five families affected by the form of congenital muscular dystrophy with rigid spine linked to the locus rigid spine muscular dystrophy 1 on chromosome 1p35-36. All cases showed rigidity of the spine, predominant neck and trunk weakness and frequent and severe thoracic scoliosis. Respiratory impairment was always observed in the first decade. Muscle imaging showed a marked involvement of adductors, sartorius and biceps femoris while rectus femoris and gracilis were relatively spared. This pattern of selective muscle involvement was consistent in all six cases and could be easily observed on either computerised tomography or magnetic resonance imaging. The results of this study suggest that muscle imaging, in combination with clinical assessment can help to identify the rigid spine muscular dystrophy 1 form of congenital muscular dystrophy and can help to target the appropriate genetic investigations.

Adolescent↗

PubMed2002

A short protocol for muscle MRI in children with muscular dystrophies.

The use of muscle magnetic resonance imaging in patients with muscular dystrophies or congenital myopathies has been limited. We describe the development of a short protocol to be used in young patients with neuromuscular disorders. The protocol includes transverse T1-weighted spin echo sequence images of thighs and calves. The total scanning time is less than 30 minutes, and can be easily applied to patients over the age of 4 years without any need for sedation. Although only the leg muscles are imaged, the images obtained can still help to identify specific patterns of muscle involvement and provide additional help in the differential diagnosis of muscle disorders with overlapping clinical features.

Atrophy↗

PubMed2002

Muscle MRI findings in a three-generation family affected by Bethlem myopathy.

We report clinical and muscle magnetic resonance imaging (MRI) findings in three individuals (aged 6, 26 and 73 years) from a three-generation family with Bethlem myopathy, confirmed by molecular genetic analysis which showed an exon skipping mutation in the COL6A1 gene. The clinical severity ranged from mild proximal weakness and distal laxity in the younger patients, to inability to stand or walk and severe contractures in the 76-year-old grandmother. The pattern of muscle involvement showed variable severity in parallel with the severity of motor function impairment. Although there was a marked variability in the severity of the MRI findings, it was possible to recognize a specific pattern of muscle involvement in all three patients. This consisted of involvement of the peripheral region of the vastus lateralis and hamstrings muscles with relative sparing of their central part. This was best appreciated in the third decade of life, but could also be identified both in the younger patient with minimal MRI changes and in the oldest patient, despite her more severe and diffuse muscle involvement. This report suggests that muscle MRI could be used as an additional tool to establish the pattern and the degree of muscle involvement in patients with Bethlem myopathy. Further studies in a larger cohort are needed to evaluate the specificity of these findings.

Adult↗