Sex differences in the prevalence of congenital anomalies: a population-based study.

BACKGROUND: Limited data is available concerning the sex distribution of various congenital anomaly subtypes. This study investigated sex differences in the prevalence of congenital anomalies, overall and by subtype, using high quality population-based data from the North of England. METHODS: Information on congenital anomalies occurring among singleton pregnancies during 1985-2003 were extracted from the Northern Congenital Abnormality Survey (NorCAS). Anomalies were categorized by groups, subtypes, and syndromes according to the European Surveillance of Congenital Anomalies guidelines. Relative risks (RRs) comparing the prevalences in males to that in females were calculated for a range of congenital anomaly subtypes. RESULTS: A total of 12,795 eligible cases of congenital anomaly were identified during the study period, including 7019 (54.9%) males and 5776 (45.1%) females. Overall, male fetuses were significantly more prevalent in pregnancies affected by a congenital anomaly than female fetuses (RR, male vs. female = 1.15; 95% confidence interval [CI], 1.11-1.19), but there was significant heterogeneity between subtypes (p < 0.001). Forty-four of 110 (40%) unique subtypes were at least 40% more prevalent in males than females, with affected subtypes occurring across all major anomaly groups. Thirteen of 110 (12%) unique subtypes were at least 40% more prevalent in females than males, but the female-biased RR of a neural tube defect was less pronounced than previously reported (RR = 0.84; 95% CI, 0.73-0.95). CONCLUSION: This study adds to the growing evidence of sex-specific differences in the prevalence of a wide range of congenital anomaly subtypes.

Electrophysiological sensory demyelination in typical chronic inflammatory demyelinating polyneuropathy.

BACKGROUND: The presence of electrophysiological demyelination of sensory nerves is not routinely assessed in the evaluation of suspected chronic inflammatory demyelinating polyneuropathy (CIDP). Whether this can be useful is unknown. METHODS: We compared, using surface recording techniques, in 19 patients with typical CIDP and 26 controls with distal large fibre sensory axonal neuropathy, the forearm median sensory conductions, sensory nerve action potential (SNAP) amplitudes and durations and sensory nerve conduction velocities (SNCVs) of median, radial and sural nerves. RESULTS: Median nerve sensory conduction block (SCB) across the forearm was greater in CIDP patients than in controls (P = 0.005). SNAP durations were longer in CIDP patients for median (P = 0.001) and sural nerves (P = 0.004). Receiver operating characteristic (ROC) curves provided sensitive (>40%) and specific (>95%) cut-offs for median nerve SCB as well as median and sural SNAP durations. SNCVs were significantly slower for median and sural nerves in CIDP patients, but ROC curves did not demonstrate cut-offs with useful sensitivities/specificities. Median SCB or prolonged median SNAP duration or prolonged sural SNAP duration offered a sensitivity of 73.7% for CIDP and specificity of 96.2%. Used as additional parameters, they improved diagnostic sensitivity of the American Academy of Neurology (AAN) criteria for CIDP of 1991, from 42.1% to 78.9% in this population, with preserved specificity of 100%. DISCUSSION: Sensory electrophysiological demyelination is present and may be diagnostically useful in typical CIDP. SCB detection and SNAP duration prolongation appear to represent more useful markers of demyelination than SNCV reduction.

Course and outcome of acute limbic encephalitis with negative voltage-gated potassium channel antibodies.

BACKGROUND: Limbic encephalitis is a potentially treatable immunological condition. The presence of voltage-gated potassium channel antibodies (VGKC-Ab) in the cerebrospinal fluid (CSF) and serum of patients with the condition is a marker of the disease associated with a non-paraneoplastic form and good response to treatment. Recent work has highlighted absent serum VGKC-Ab and distinct immunology in patients with the paraneoplastic form of limbic encephalitis. METHODS: The cases of four patients with the typical clinical presentation, neuropsychological features and brain imaging of acute limbic encephalitis, in the absence of any evidence for associated cancer during a follow-up of at least 18 months are described here. RESULTS: All patients had negative testing for VGKC-Ab measured during their acute presentation. All patients made some recovery, although they were left with marked cognitive deficits and persistent seizures. CONCLUSION: These cases demonstrate that the absence of VGKC-Ab in limbic encephalitis does not necessarily imply a paraneoplastic form. Further work is required to establish the immunological basis for the disorder in these patients, and the optimal treatment regimen.

Exact cone beam CT with a spiral scan.

A method is developed which makes it possible to scan and reconstruct an object with cone beam x-rays in a spiral scan path with area detectors much shorter than the length of the object. The method is mathematically exact. If only a region of interest of the object is to be imaged, a top circle scan at the top level of the region of interest and a bottom circle scan at the bottom level of the region of interest are added. The height of the detector is required to cover only the distance between adjacent turns in the spiral projected at the detector. To reconstruct the object, the Radon transform for each plane intersecting the object is computed from the totality of the cone beam data. This is achieved by suitably combining the cone beam data taken at different source positions on the scan path; the angular range of the cone beam data required at each source position can be determined easily with a mask which is the spiral scan path projected on the detector from the current source position. The spiral scan algorithm has been successfully validated with simulated cone beam data.

Multiple sclerosis lesion quantification using fuzzy-connectedness principles.

Multiple sclerosis (MS) is a disease of the white matter. Magnetic resonance imaging (MRI) is proven to be a sensitive method of monitoring the progression of this disease and of its changes due to treatment protocols. Quantification of the severity of the disease through estimation of MS lesion volume via MR imaging is vital for understanding and monitoring the disease and its treatment. This paper presents a novel methodology and a system that can be routinely used for segmenting and estimating the volume of MS lesions via dual-echo fast spin-echo MR imagery. A recently developed concept of fuzzy objects forms the basis of this methodology. An operator indicates a few points in the images by pointing to the white matter, the grey matter, and the cerebro-spinal fluid (CSF). Each of these objects is then detected as a fuzzy connected set. The holes in the union of these objects correspond to potential lesion sites which are utilized to detect each potential lesion as a three-dimensional (3-D) fuzzy connected object. These objects are presented to the operator who indicates acceptance/rejection through the click of a mouse button. The number and volume of accepted lesions is then computed and output. Based on several evaluation studies, we conclude that the methodology is highly reliable and consistent, with a coefficient of variation (due to subjective operator actions) of 0.9% (based on 20 patient studies, three operators, and two trials) for volume and a mean false-negative volume fraction of 1.3%, with a 95% confidence interval of 0%-2.8% (based on ten patient studies).

Computer-assisted quantitation of enhancing lesions in multiple sclerosis: correlation with clinical classification.

PURPOSE: To study the utility of a computer-assisted method of quantitating enhancing multiple sclerosis (MS) lesions and to correlate this quantitation with the type and duration of disease. METHODS: Forty untreated patients with MS were studied. The patients had been classified clinically as having either relapsing-remitting (n = 27) or chronic-progressive (n = 13) disease. Postcontrast contiguous 3-mm-thick MR images of the brain were obtained for up to 3 years. The computer program selected potential lesion sites automatically on the basis of the theory of "fuzzy connectedness," which was incorporated into 3DVIEWNIX software. True lesions were selected from these previously detected potential lesions by means of yes/no responses to the program query. The number of enhancing lesions and the enhancing lesions volume were subsequently computed. RESULTS: The enhancing lesion volume in patients with relapsing-remitting disease was statistically significantly higher than that of patients with chronic-progressive disease. There was a strong positive correlation between the number of enhancing lesions and the enhancing lesion volume. No significant correlation was noted between the change in score on the expanded disability status scale (EDSS) and the change in the number of enhancing lesions, or between the change in EDSS score and the change in enhancing lesion volume. A negative correlation was found between enhancing lesion volume and duration of disease, and between the number of enhancing lesions and duration of disease in the patients who had enhancing lesions. CONCLUSIONS: Our data suggest that enhancing lesion volume reflects differences in the classification of clinical MS and in the disease activity over time. Computer-assisted quantitation of enhancing lesion volume is a robust, practical, and objective measure of MS activity.

A new computer-assisted method for the quantification of enhancing lesions in multiple sclerosis.

PURPOSE: Our goal is to describe a new computerized method for the detection and quantification of enhanced multiple sclerosis (MS) lesions. METHOD: Gd-DTPA-enhanced, thin section, T1-weighted images of seven patients (involving 336 slice images) with definite MS were analyzed using a new method based on the theory of "fuzzy connected components," developed and implemented on the 3DVIEWNIX software system. Four neuroradiologists selected "true" lesions from the computer-detected potential lesions with a yes/no response to the program query on 2 different days. The enhanced lesion volume and number of enhancing lesions for each image and each observer were subsequently computed. Additional studies involving 720 slices were conducted to determine lesions that were missed by the system. RESULTS: The intra- and interobserver variability in the system was 0%. It took approximately 1 min of operator time per 3D study. The system output has no false positives and a mean false-negative volume of 1.3%. CONCLUSION: The novel system calculates enhancing lesion volume and the number of enhancing lesions with very little operator time, inter- and intraoperator variability, or false-positive and false-negative volumes. Computer-based quantification of enhancing lesion volume is an important objective measure of the activity of MS. The system is now in routine use in clinical investigations that study the role of enhancing lesions in the MS disease.

New method of studying joint kinematics from three-dimensional reconstructions of MRI data.

A new method of measuring the kinematic parameters of joints has been developed. This article describes the procedure, using tarsal joints as examples. The method uses the technique of computerized three-dimensional reconstruction from magnetic resonance images, taken at regular intervals throughout a foot's range of motion. From these reconstructions, various kinematic information, such as orientation of instantaneous axes, amounts of rotation, amounts and direction of translation, and bony contact areas, is derived. The method is noninvasive and can be applied to individual subjects or patients.