Online evaluation of fetal second-trimester four-chamber view images: a comparison of six evaluation methods.

OBJECTIVE: To compare six online evaluation methods for auditing routine second-trimester four-chamber view still images. METHODS: We evaluated three different scoring grids (subjective, five-item score and seven-item score), which were applied with or without access to online help, resulting in a total of six evaluation methods. For the subjective scoring grid, images were rated as excellent, good, fair, poor or very poor. For the five-item score, 1 point was allocated for visualization (vs non-visualization or non-evaluable) of each of: heart crux, atria, ventricles, apex and aorta, yielding a score of 0-5. For the seven-item score, 1 point was allocated for clear (vs unclear) visualization of each of: moderator band at the apex, interventricular septum, atrioventricular valves, non-linear insertion of atrioventricular valves (normal offset), septum primum, aorta and pulmonary vein. Each evaluation method was used via the Internet by three randomly selected reviewers, who evaluated the same set of 80 images. Reviewers were experienced in fetal ultrasound, but were not involved in the design of the study. Interrater agreement was the main outcome. RESULTS: The five-item scoring grid with online help achieved the best interrater agreement (interrater intraclass correlation coefficient = 0.7). CONCLUSIONS: Evaluation of the second-trimester sonographic four-chamber view is apparently best achieved with a simple five-item scoring grid.

Responsiveness of different rating instruments in spinocerebellar ataxia patients.

OBJECTIVE: To determine the longitudinal metric properties of recently developed clinical assessment tools in spinocerebellar ataxia (SCA). METHODS: A subset of 171 patients from the EUROSCA natural history study cohort (43 SCA1, 61 SCA2, 37 SCA3, and 30 SCA6) were examined after 1 year of follow-up. Score changes and effect size indices were calculated for clinical scales (Scale for the Assessment and Rating of Ataxia [SARA], Inventory of Non-Ataxia Symptoms [INAS]), functional tests (SCA Functional Index [SCAFI] and components), and a patient-based scale for subjective health status (EQ-5D visual analogue scale [EQVAS]). Responsiveness was determined in relation to the patient's global impression (PGI) of change and reproducibility described as retest reliability for the stable groups and smallest detectable change. RESULTS: Within the 1-year follow-up period, SARA, INAS, and SCAFI but not EQVAS indicated worsening in the whole group and in the groups with subjective (PGI) worsening. SCAFI and its 9-hole pegboard (9HPT) component also deteriorated in the stable groups. Standardized response means were highest for 9HPT (-0.67), SARA (0.50), and SCAFI (-0.48) with accordingly lower sample size estimates of 143, 250, or 275 per group for a 2-arm interventional trial that aims to reduce disease progression by 50%. SARA and EQVAS performed best to distinguish groups classified as worse by PGI. All scales except EQVAS reached the criterion for retest reliability. CONCLUSION: While both the Scale for the Assessment and Rating of Ataxia and the SCA Functional Index (SCAFI) (and its 9-hole pegboard component) had favorable measurement precision, the clinical relevance of SCAFI and 9-hole pegboard score changes warrants further exploration. The EQ-5D visual analogue scale proved insufficient for longitudinal assessment, but validly reflected patients' impression of change.

Elderly POSSUM, a dedicated score for prediction of mortality and morbidity after major colorectal surgery in older patients.

BACKGROUND: Several scores have been developed to evaluate surgical unit mortality and morbidity. The Physiological and Operative Severity Score for the enUmeration of Mortality and morbidity (POSSUM) and derivatives use preoperative and intraoperative factors, whereas the Surgical Risk Scale (SRS) and Association Française de Chirurgie (AFC) score use four simple factors. To allow for advanced age in patients undergoing colorectal surgery, a dedicated score-the Elderly (E) POSSUM-has been developed and its accuracy compared with these scores. METHODS: From 2002 to 2004, 1186 elderly patients, at least 65 years old, undergoing major colorectal surgery in France were enrolled. Accuracy was assessed by calculating the area under the receiver operating characteristic curve (AUC) (discrimination) and calibration. RESULTS: The mortality and morbidity rates were 9 and 41 per cent respectively. The E-POSSUM had both a good discrimination (AUC = 0.86) and good calibration (P = 0.178) in predicting mortality and a reasonable discrimination (AUC = 0.77) and good calibration (P = 0.166) in predicting morbidity. The E-POSSUM was significantly better at predicting mortality and morbidity than the AFC score (P(c) = 0.014 and P(c) < 0.001 respectively). CONCLUSION: The E-POSSUM is a good tool for predicting mortality, and the only efficient scoring system for predicting morbidity after major colorectal surgery in the elderly.

Influence of sensory inputs and motor demands on the control of the centre of mass velocity during gait initiation in humans.

Human gait requires the simultaneous generation of goal-directed continuous movement (locomotion) and the maintenance of balance (postural control). In adults, the centre of mass (CoM) oscillates in the vertical plane while walking. During the single support phase of gait initiation, its vertical (vCoM) velocity increases as the CoM falls and is actively reversed prior to foot-contact. In this study we investigated whether this active control, which is thought to reflect balance control during gait initiation, is controlled by visual and somatosensory inputs (Experiment 1) and whether it is modified by a change in motor demands, two steps versus one step (Experiment 2). In all healthy adults, the vCoM velocity was braked, or controlled, by contraction of the soleus muscle of the stance leg. The elimination of visual input alone had no effect on braking, although its amplitude decreased when somatosensory inputs were disrupted (-47%), and further decreased when both visual and somatosensory inputs were disrupted (-83%). When subjects performed only one step, with no trailing of the stance foot, the vCoM velocity braking also decreased (-42%). These results suggest that active braking of the CoM fall during the transition to double support, an indicator of balance control, is influenced by both multisensory integration and the demands of the current motor program. The neural structures involved in this mechanism remain to be elucidated.

A multidisciplinary study of patients with early-onset PD with and without parkin mutations.

OBJECTIVE: To establish phenotype-genotype correlations in early-onset Parkinson disease (EOPD), we performed neurologic, neuropsychological, and psychiatric evaluations in a series of patients with and without parkin mutations. BACKGROUND: Parkin (PARK2) gene mutations are the major cause of autosomal recessive parkinsonism. The usual clinical features are early-onset typical PD with a slow clinical course, an excellent response to low doses of levodopa, frequent treatment-induced dyskinesias, and the absence of dementia. METHODS: A total of 44 patients with EOPD (21 with and 23 without parkin mutations) and 9 unaffected single heterozygous carriers of parkin mutations underwent extensive clinical, neuropsychological, and psychiatric examinations. RESULTS: The neurologic, neuropsychological, and psychiatric features were similar in all patients, except for significantly lower daily doses of dopaminergic treatment and greater delay in the development of levodopa-related fluctuations (p < 0.05) in parkin mutation carriers compared to noncarriers. There was no major difference between the two groups in terms of general cognitive efficiency. Psychiatric manifestations (depression) were more frequent in patients than in healthy single heterozygous parkin carriers but did not differ between the two groups of patients. CONCLUSION: Carriers of parkin mutations are clinically indistinguishable from other patients with young-onset Parkinson disease (PD) on an individual basis. Severe generalized loss of dopaminergic neurons in the substantia nigra pars compacta in these patients is associated with an excellent response to low doses of dopa-equivalent and delayed fluctuations, but cognitive impairment and special behavioral or psychiatric symptoms were not more severe than in other patients with early-onset PD.

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.

OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6. METHODS: To measure the severity of ataxia we used the Scale for the Assessment and Rating of Ataxia (SARA). In addition, nonataxia symptoms were assessed with the Inventory of Non-Ataxia Symptoms (INAS). The INAS count denotes the number of nonataxia symptoms in each patient. RESULTS: An analysis of covariance with SARA score as dependent variable and repeat lengths of the expanded and normal allele, age at onset, and disease duration as independent variables led to multivariate models that explained 60.4% of the SARA score variance in SCA1, 45.4% in SCA2, 46.8% in SCA3, and 33.7% in SCA6. In SCA1, SCA2, and SCA3, SARA was mainly determined by repeat length of the expanded allele, age at onset, and disease duration. The only factors determining the SARA score in SCA6 were age at onset and disease duration. The INAS count was 5.0 +/- 2.3 in SCA1, 4.6 +/- 2.2 in SCA2, 5.2 +/- 2.5 in SCA3, and 2.0 +/- 1.7 in SCA6. In SCA1, SCA2, and SCA3, SARA score and disease duration were the strongest predictors of the INAS count. In SCA6, only age at onset and disease duration had an effect on the INAS count. CONCLUSIONS: Our study suggests that spinocerebellar ataxia (SCA) 1, SCA2, and SCA3 share a number of common biologic properties, whereas SCA6 is distinct in that its phenotype is more determined by age than by disease-related factors.

Neurosurgery at an earlier stage of Parkinson disease: a randomized, controlled trial.

BACKGROUND: Stimulation of the subthalamic nucleus is an effective treatment for advanced Parkinson disease (PD) and is currently performed after a mean disease duration of 14 years, when severe motor complications have resulted in marked loss of quality of life. We examined whether surgery at an early stage would maintain quality of life as well as improve motor function. METHODS: Twenty patients with PD of short duration (time elapsed since first symptom +/- SD: 6.8 +/- 1.0 years) with mild to moderate motor signs (Unified Parkinson's Disease Rating Scale III "off" medication: 29 +/- 12) who responded well to levodopa treatment were included in pairs, matched for age, duration and severity of disease, and impairment in socioprofessional functioning. Patients were prospectively randomized to undergo bilateral subthalamic nucleus stimulation (n = 10) or receive optimized medical treatment (n = 10). Parkinsonian motor scores, quality of life, cognition, and psychiatric morbidity were assessed at inclusion and at 6, 12, and 18 months after randomization. RESULTS: Quality of life was improved by 24% in surgical and 0% in nonsurgical patients (p < 0.05). After 18 months, the severity of parkinsonian motor signs "off" medication, levodopa-induced motor complications, and daily levodopa dose were reduced by 69%, 83%, and 57% in operated patients and increased by 29%, 15%, and 12% in the group with medical treatment only (p < 0.001). Adverse events were mild or transient, and overall psychiatric morbidity and anxiety improved in the surgical group. CONCLUSIONS: Subthalamic nucleus stimulation should be considered a therapeutic option early in the course of Parkinson disease.

[Diagnostic value of a two-dimensional echocardiographic score for left ventricular hypertrophy validated by the Imatron CT scan in familial hypertrophic cardiomyopathy]. / Valeur diagnostique d'un score echocardiographique bidimensionnel d'hypertrophie du ventricule gauche validé par scanner Imatron dans la cardiomyopathie hypertrophique familiale.

The aim of this study was to validate a two-dimensional echocardiographic score for left ventricular hypertrophy in familial hypertrophic cardiomyopathy (HCM) by fast CT scan and to study the diagnostic value by an indexed threshold value in affected and genotyped families in comparison with the classical diagnostic method of maximal wall thickness (E max). The study was performed successively in two patient groups with HCM. The echo/CT scan population comprised 26 patients. They underwent echocardiography and Imatron CT scanning. The E max and 2D echo score (sum of the thickness of 4 segments) were measured by echocardiography and compared to the left ventricular mass obtained by the CT method. The 2D echo score was closely correlated to the CT left ventricular mass (r = 0.85) with a higher correlation coefficient than the E max (r = 0.78). The echo/generic population comprised 109 genotyped adults with an identified mutation. The E max and 2D echo score were measured. The genotype was the reference for diagnosis. A theoretical value of the 2D echo score was determined in healthy individuals by a multiple linear regression model of ages, sex and body surface area. A threshold value for abnormality was established after analysis of the ROC. The sensitivity and specificity were 63% and 100% respectively for E max and 73% and 96% respectively for the indexed 2D echo score. The improvement in sensitivity was marked in young adults (< 50 years) with 69% for the indexed 2D echo score versus 54% for E max, p < 0.04. The authors conclude that the indexed 2D score has been validated as an index of hypertrophy by the Imatron CT and has a better diagnostic value than E max, especially in young adults. This echocardiographic criterion could be proposed as an alternative diagnostic sign for screening families.

Scale for the assessment and rating of ataxia: development of a new clinical scale.

OBJECTIVE: To develop a reliable and valid clinical scale measuring the severity of ataxia. METHODS: The authors devised the Scale for the Assessment and Rating of Ataxia (SARA) and tested it in two trials of 167 and 119 patients with spinocerebellar ataxia. RESULTS: The mean time to administer SARA in patients was 14.2 +/- 7.5 minutes (range 5 to 40). Interrater reliability was high, with an intraclass coefficient (ICC) of 0.98. Test-retest reliability was high with an ICC of 0.90. Internal consistency was high as indicated by Cronbach's alpha of 0.94. Factorial analysis revealed that the rating results were determined by a single factor. SARA ratings showed a linear relation to global assessments using a visual analogue scale, suggesting linearity of the scale (p < 0.0001, r(2) = 0.98). SARA score increased with the disease stage (p < 0.001) and was closely correlated with the Barthel Index (r = -0.80, p < 0.001) and part IV (functional assessment) of the Unified Huntington's Disease Rating Scale (UHDRS-IV) (r = -0.89, p < 0.0001), whereas it had only a weak correlation with disease duration (r = 0.34, p < 0.0002). CONCLUSIONS: The Scale for the Assessment and Rating of Ataxia is a reliable and valid measure of ataxia, making it an appropriate primary outcome measure for clinical trials.

Parkinson disease, brain volumes, and subthalamic nucleus stimulation.

BACKGROUND: High-frequency stimulation of the subthalamic nucleus (STN) is an effective treatment for advanced Parkinson disease (PD). The clinical and preoperative predictive factors of the best postoperative outcome have been identified. Radiologic predictive factors were investigated. METHODS: Forty patients with PD underwent surgery for bilateral STN stimulation. MRI was performed in stereotactic conditions before surgery. Brain parenchyma, caudate nucleus, putamen, pallidum, and red nucleus volumes and the surface of the mesencephalon were measured and normalized as percentages of the intracranial volume. Clinical evaluation was performed 1 month before and 6 months after surgery. RESULTS: The normalized brain parenchyma volume was lower in patients who were older and had a longer disease duration or a lower frontal score and was not predictive of the postoperative outcome. The residual scores for activities of daily living and parkinsonian motor disability were higher in patients with a smaller normalized mesencephalon. The normalized caudate nucleus volume was predictive of the pre- and postoperative levodopa-equivalent dosage. CONCLUSIONS: Brain atrophy is not an exclusion criterion for neurosurgery, indicating that patients' neurologic, psychiatric, and neuropsychological characteristics are the best predictive factors for neurosurgery. The fact that a smaller normalized mesencephalon surface was associated with a lower beneficial effect of the subthalamic nucleus stimulation on the parkinsonian motor disability suggests that the normalized mesencephalon surface is a predictive factor of the postoperative outcome.