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Biomedical subjects

S Counsell

Publications and source records attributed to S Counsell.

16 recordsLinked to original sources
PubMed2003

Muscle magnetic resonance imaging in patients with congenital muscular dystrophy and Ullrich phenotype.

The aim of this study was to evaluate muscle magnetic resonance imaging findings in patients with congenital muscular dystrophy and Ullrich phenotype. Fifteen children with congenital muscular dystrophy and Ullrich phenotype were included in the study. All patients had collagen VI studies in muscle and, when family structure was informative, linkage studies to the collagen 6 loci. Three of the 15 patients had reduced collagen in muscle. One of the three was from an informative family and linked to one of the collagen 6 loci. Another patient was linked to one of the collagen 6 loci but had normal expression of collagen in muscle. The remaining 11 all had normal collagen expression in muscle. Only two of these 11 were from informative families and linkage to collagen 6 loci was excluded in them. All patients had muscle magnetic resonance imaging of their leg muscles using transverse T1 sequences. With the exception of the two patients in whom linkage to the collagen 6 loci was excluded, the other 13 patients showed the same pattern of selective involvement on magnetic resonance imaging of thigh muscles. This consisted of relative sparing of sartorius, gracilis, adductor longus and rectus. This pattern was also found in the case linked COL6A1/A2 locus but with normal collagen. This finding, and the striking clinical and magnetic resonance imaging concordance between patients with normal and reduced collagen VI in muscle suggest that collagen VI could still be the culprit in several cases with normal collagen expression, or alternatively a primary defect in a protein that closely interacts with collagen VI. Mutation analysis of the collagen 6 genes in cases with normal collagen VI expression is needed to resolve this issue.

Adolescent↗
PubMed2002

Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy.

OBJECTIVE: The aim of this study was to evaluate the spectrum of muscle involvement on MRI in patients with autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2) due to mutations in the lamin A/C gene and to compare it to the pattern found in other conditions with similar phenotype. PATIENTS AND METHODS: Nine patients with a diagnosis of EDMD2 had MRI scanning of their leg muscles. Seven other patients, four with the X-linked form of Emery-Dreifuss muscular dystrophy (EDMD) and three with an Emery-Dreifuss-like phenotype but no detectable mutations in either the emerin or the lamin A/C gene were also scanned as disease controls. RESULTS: All patients with EDMD2 showed a characteristic involvement of the posterior calf muscles. The medial head of the gastrocnemius was always predominantly involved while the lateral head was relatively spared. This pattern was more obvious in mildly affected patients in whom the other calf muscles were spared or only mildly involved but was also recognisable in the patients with more advanced disease. In contrast, none of the patients with the X-linked EDMD or with Emery-Dreifuss-like phenotype but no mutation in either genes showed this pattern of muscle involvement. CONCLUSIONS: Our results suggest that patients with EDMD2 have a specific pattern of muscle involvement and that muscle MRI can be used, in combination with other techniques, to distinguish various genetic forms of Emery-Dreifuss muscular dystrophy.

Adolescent↗
PubMed2002

MRI lesions and infants with neonatal encephalopathy. Is the Apgar score predictive?

OBJECTIVE: The aim of this study was to establish whether, in full-term infants presenting with neonatal encephalopathy, the 1 minute Apgar score gives an indication of the presence, site or type of lesions observed on brain MRI in the neonatal period. PARTICIPANTS AND METHODS: The study cohort included 157 full-term infants who had neurological abnormalities during the first 48 hours after delivery. Infants with developmental, genetic, infective or metabolic diagnoses were excluded from the study. The infants were subdivided according to their 1 minute Apgar score into three groups as follows: Apgar score 0 - 3 (n = 108/157, 69 %), 4 - 7 (n = 29, 19 %), 8 - 10 (n = 21, 12 %). Results. Severe and moderate basal ganglia and thalamic (BGT) lesions, with one exception, were only observed in the group with an Apgar score of 3 or below. Minimal BGT lesions were, with one exception, associated with scores below 7 and mainly below 3. However, not all the infants with low Apgar scores had BGT lesions and 28 % of the patients with Apgar scores below 3 had normal scans or only minimal white matter changes. White matter lesions without BGT involvement were equally distributed in the cohort, irrespective of the Apgar scores. Cerebral infarction and scattered white matter haemorrhages were the most common findings in infants with Apgar scores of 4 and above. The Apgar scores were not always predictive of motor outcome at 2 years but the presence and severity of the sequelae mainly reflected the site and severity of MRI findings. CONCLUSIONS: These findings stress the importance of subdividing neonatal encephalopathy into diagnostic categories according to brain lesions if one wishes to study either causative factors or outcome.

Apgar Score↗
PubMed2001

Early white matter changes on brain magnetic resonance imaging in a newborn affected by merosin-deficient congenital muscular dystrophy.

In 1996 we reported sequential magnetic resonance imaging study in an infant with merosin-deficient congenital muscular dystrophy with normal brain magnetic resonance imaging at 3 weeks and white matter changes by 6 months. We now report an infant with merosin-deficient congenital muscular dystrophy with a mild degree of white matter changes already present on brain magnetic resonance imaging at 5 days of age. The difference may be due to a difference in the T2 sequences used. The images in this present case were obtained with a fast spin echo sequence (echo time: 210 ms). The increased T2 weighted may be responsible for a better detection of the white matter changes at an early stage, when they can be missed on conventional, less weighting T2 sequences. These results suggest that, by using appropriate sequences, mild white matter changes may be detectable on brain magnetic resonance imaging in the first days of life in infants with merosin-deficient congenital muscular dystrophy.

Age of Onset↗
PubMed2001

Neonatal arthrogryposis and absent limb muscles: a muscle developmental gene defect?

We describe a child who presented at birth with arthrogryposis. Following a muscle biopsy a diagnosis of congenital muscular dystrophy was made and a skin biopsy 12 years later confirmed the presence of merosin. Her clinical picture was unusual, however, for merosin-positive congenital muscular dystrophy. She had extreme wasting and weakness of her arms and legs. In contrast, she had good neck and trunk control, and no facial or respiratory muscle weakness. We have used magnetic resonance imaging to examine the pattern of muscle involvement in this case. No recognizable muscle could be identified in the limbs. In contrast, the axial muscles were preserved. This striking pattern of virtual absence of muscles in the limbs with sparing of the axial muscle suggests that a gene responsible for the migration and/or proliferation of limb muscle precursor cells may be involved in the disease process. It is recognized that merosin-positive congenital muscular dystrophy is a heterogeneous disease. Magnetic resonance imaging is a useful tool for examining in detail the pattern of muscle involvement and identifying individual phenotypes. Understanding more about which muscles are affected in children with congenital myopathies may provide information on the underlying pathological process and help in the search for candidate proteins and genes.

Arthrogryposis↗
PubMed2001

Neurologic examination in infants with hypoxic-ischemic encephalopathy at age 9 to 14 months: use of optimality scores and correlation with magnetic resonance imaging findings.

OBJECTIVES: To evaluate whether a structured and scorable neurologic examination (The Hammersmith Infant Neurological Examination) correlates with early magnetic resonance imaging findings in a group of infants with hypoxic-ischemic encephalopathy (HIE) and whether the scores of this assessment can predict the locomotor function in these children. STUDY DESIGN: A total of 53 term infants fulfilling the criteria for HIE underwent scanning within 4 weeks from delivery with a 1 Tesla HPQ magnet. The scores from the neurologic examination performed between 9 to 14 months were correlated to the neonatal magnetic resonance imaging findings and to the maximal locomotor function defined at the ages of 2 and 4 years. RESULTS: The scores were always optimal in the infants with normal or minor neonatal magnetic resonance imaging findings. The lowest scores were associated with severe basal ganglia and white matter lesions. All the infants who had a global score between 67 and 78 at 1 year were able to walk independently at 2 years and without restrictions at 4 years. Scores between 40 and 67 were associated with restricted mobility and scores <40 with severely limited self-mobility at 2 and 4 years. CONCLUSIONS: The use of a standardized neurologic optimality scoring system gives additional prognostic information, easily available in the clinic, on the severity of the functional motor outcome in infants with HIE.

Female↗
PubMed2000

Occipital sawtooth: a physiological EEG pattern in very premature infants.

OBJECTIVE: To evaluate EEG maturational features in preterm infants below 27 weeks postmenstrual age. METHODS: EEGs recorded from 5 preterm infants (postmenstrual age 24-26 weeks) were examined and selected maturational features were scored and quantified. The five infants also had serial cranial ultrasound scans (US) and magnetic resonance images of the brain within the first weeks after birth. RESULTS: Background activity was markedly discontinuous in all patients and very variable. Temporal sawtooths occurred but less frequently than in older preterm infants. All 5 infants also showed a particular novel feature, characterized by rhythmic, regularly shaped, medium-high amplitude 4-7 Hz activities, lasting 0.5-3 s and located in the occipital regions. This pattern was symmetrical but sometimes asynchronous. CONCLUSIONS: Occipital sawtooth, so called because it shares shape and frequency with temporal sawtooth but has an occipital localisation, constitutes a physiological EEG pattern characteristic of premature infants between 24 and 26 weeks of postmenstrual age.

Electroencephalography↗
PubMed2000

Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

We describe two Scottish siblings affected by a form of congenital muscular dystrophy characterised by a severe clinical phenotype, similar to that observed in the 6q-linked merosin-deficient CMD but in whom brain MRI and cognitive development were normal. The maximal function achieved in the 2 siblings was sitting independently. Serum CK were grossly elevated and the skin and muscle biopsies showed a severe reduction of merosin in both. The normal brain MRI and normal cognitive development distinguish this form from Fukuyama congenital muscular dystrophy, muscle-eye-brain disease or other forms of CMD with secondary partial merosin deficiency and abnormal brain MRI and/or mental retardation. Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD.

Biopsy↗
PubMed1999

Cognitive abilities in children with congenital muscular dystrophy: correlation with brain MRI and merosin status.

The aim of the study was to evaluate whether children with merosin-positive or merosin-deficient congenital muscular dystrophy (CMD) show any cognitive impairment and whether this is related to brain abnormalities on magnetic resonance imaging (MRI). Twenty-two patients (age range: 5.8-15.3 years) were assessed by the Wechsler Intelligence Scales. Twelve were merosin-positive and ten merosin-deficient. One child had severe mental retardation and could not be tested. The full scale IQ in the remaining 21 ranged from 51 to 134, the verbal IQ ranged from 78 to 136 and the performance from 51 to 136. Of the twelve children with normal merosin one had a mild delay (IQ < 75) and two were borderline (IQ 75-95). Of the ten children with merosin-deficiency, one showed severe mental retardation and could not be tested, one showed a mild delay and two had borderline results. While the children with merosin deficiency with the typical diffuse white matter changes on MRI had normal scores, the children who in addition had cerebellar hypoplasia had lower performance IQ. The child with cortical dysplasia had severe mental retardation. Our results suggest that the spectrum of cognitive abilities in CMD is very wide even within genetically homogeneous conditions.

Adolescent↗
PubMed1999

Neonatal neurological examination in infants with hypoxic ischaemic encephalopathy: correlation with MRI findings.

Neurological examination and magnetic resonance imaging were performed in the neonatal period in 58 full-term infants who presented with hypoxic-ischaemic encephalopathy. The aim of this study was to evaluate the patterns of neurological abnormalities and their correlation to brain lesions on MRI. The prognostic value of the neurological examination performed at different times in the neonatal period was also evaluated. Our results showed that specific clinical patterns can be observed in infants with HIE and these can be related to the pattern of lesion on brain MRI. In particular, while infants with normal MRI or minimal changes tend to show only minor tone abnormalities after the first week of life, infants with more severe lesions such as basal ganglia lesions show persistent and diffuse neurological abnormalities. Infants with white matter changes but intact basal ganglia show a different clinical pattern with improved sucking reflex and behaviour and less severe tone abnormalities. Our results also suggested that the neurological examination performed after the second week of life is a reliable indicator of outcome in these infants.

Asphyxia Neonatorum↗
PubMed1999

Early prognostic indicators of outcome in infants with neonatal cerebral infarction: a clinical, electroencephalogram, and magnetic resonance imaging study.

OBJECTIVE: The aim of this study was to identify prognostic factors in newborns with cerebral infarction. DESIGN: Antenatal and perinatal factors and early clinical, electroencephalogram (EEG), and magnetic resonance imaging (MRI) findings were compared with neurodevelopmental outcome in 24 children with evidence of cerebral infarction on neonatal MRI. RESULTS: Out of 24 infants, 19 had an infarction in the territory of a major cerebral vessel and 5 in the borderzone between cerebral arteries. Neuromotor outcome was normal in 17 and abnormal in 7 infants. Of these 7 infants, 5 infants showed a definite hemiplegia, whereas the other 2 showed some asymmetry of tone or function but no definite hemiplegia. None of the adverse antenatal or perinatal factors was significantly associated with abnormal outcome. Neonatal clinical examination was also not always predictive of the outcome. The extent of the lesion on MRI was a better predictor. In particular, it was the concomitant involvement of hemisphere, internal capsule and basal ganglia that was always associated with an abnormal outcome whereas the involvement of only one or two of the three tended to be associated with a normal outcome. EEG was also very helpful. Abnormal background activity either unilateral or bilateral was found in 6 infants and 5 out of 6 developed hemiplegia. In contrast, the presence of seizure activity in presence of a normal background was not related to abnormal outcome. CONCLUSIONS: Early MRI and EEG can help to identify the infants with cerebral infarction who are likely to develop hemiplegia.

Cerebral Infarction↗
PubMed1998

Physiological stability of preterm infants during magnetic resonance imaging.

AIM: This study looked for evidence of physiological disturbance in preterm infants undergoing magnetic resonance imaging (MRI). METHODS: Intensive care was continued, as appropriate, throughout scanning in each infant. The heart rate, oxygen saturation (SaO2), temperature and mean arterial blood pressure (BP) was monitored during MRI in preterm infants, median gestational age at birth 27 (range 23-32) weeks and median postnatal age at initial MRI, 3 days (range 1-42). The acoustic noise level during imaging was also measured. RESULTS: 2087 min of data were obtained from 39 examinations in 23 infants. The median heart rate was 159 and no bradycardia < 100 or tachycardia > 200 bpm occurred. Although 42 episodes of desaturation < 90% were detected only three were < 80, and these occurred in one infant due to endotracheal tube blockage. The median axillary temperature was 36.9 degrees C (range 35.7-37.8) and median BP (n = 6) was 37 mmHg (24-48). The ambient noise level in the MR system during scanning was 67-72 dBA. CONCLUSION: In preterm infants who required intensive care during scanning, MRI could be performed without major physiological instability.

Blood Pressure↗
PubMed1998

Orientation-reversal and phase-reversal visual evoked potentials in full-term infants with brain lesions: a longitudinal study.

The onset and maturation of visual cortical mechanisms can be recorded by using steady-state visual evoked potentials. The aim of this study was to evaluate and compare orientation-reversal (OR) and phase-reversal (PH) VEP as indicators of the maturation of cortical function in a population of fullterm infants with brain lesions on neonatal MRI. Forty-six infants with brain lesions on neonatal MRI were tested on both PH and OR VEP at 8 reversals/second at the age of 5 months and, if the responses were not significant, at a lower temporal frequency (4 reversals/second). Children whose VEPs were not significant at 5 months were tested longitudinally at 6, 9, 12 and 18 months. The results showed that 23 of the 46 infants (50%) did not show significant responses at 5 months and that while in 7 of the 23 (14% of the whole cohort) the responses became significant between 5 and 12 months, in the other 16 infants (34%) the VEP responses were persistently abnormal. Children with focal lesions, such as focal infarction or haemorrhages, tended to show normal or only mildly delayed VEP while more generalised lesions, such as the ones seen in infants with hypoxic-ischaemic encephalopathy grade 2 and 3, tended to be associated with abnormal VEP responses. The involvement of the optic radiations and occipital cortex was not always associated with abnormal VEP responses but the concomitant involvement of the basal ganglia was always associated with abnormal VEP. We were also able to demonstrate that VEP can be also used as a prognostic indicator: while normal OR VEP are reliably associated with a normal visual and neurodevelopmental outcome, abnormal 4 OR or 8 PH at 5 months are consistently associated with abnormal outcome.

Brain Diseases↗
PubMed1998

Magnetic resonance imaging of the neonatal brain.

Advances in magnetic resonance technology have revolutionized our ability to obtain detailed images of the neonatal brain without the use of ionizing radiation. Magnetic resonance imaging has now become the modality of choice for the in-vivo assessment of brain development, myelination and pathology.

Brain↗
PubMed1998

Clinical intervention trials: the ACE unit.

The loss of independent self-care by older patients during hospitalization for an acute illness can be modified by specific interventions. Acute care geriatric units appear to be the most effective intervention, but geriatric consultation on specific units, comprehensive discharge planning, and nutritional support also appear to have beneficial effects on clinical outcomes of hospitalization. These studies highlight the potential of geriatricians, in the setting of interdisciplinary care, to improve the process of patient care and to serve as directors of medical units that focus on management of acutely ill older patients.

Acute Disease↗