ABSTRACT
Idiopathic infantile arterial calcificationI (IIAC) is a rare disorder characterized by calcium deposition in the internal elastica lamina of medium and large arteries and it has been defined in term of molecular genetics. It is usually fatal, approximately 85% of all patients die within the first months of life owing to ischemia of vital organs. Death from myocardial infarction usually occurs in the first 6 months. Calcification in a peripheral artery with electrocardiogram (ECG) changes of occlusive coronary artery disease suggests the diagnosis. It is caused by mutations in the ENPP1 gene localized on chromosome 6q22 and has OMIM number 208000. A case with fatal evolution at the end of the first month is presented.
Subject(s)
Arteries/pathology , Calcinosis/pathology , Abdominal Cavity/diagnostic imaging , Arteries/diagnostic imaging , Calcinosis/genetics , Coronary Artery Disease/complications , Coronary Artery Disease/pathology , Fatal Outcome , Female , Humans , Infant, Newborn , Myocardial Infarction/etiology , Myocardial Infarction/pathology , Tomography, X-Ray Computed , UltrasonographyABSTRACT
OBJECTIVE: This study aimed to describe the use of the P300 event-related potential as a control signal in a brain computer interface (BCI) for healthy and paralysed participants. METHODS: The experimental device used the P300 wave to control the movement of an object on a graphical interface. Visual stimuli, consisting of four arrows (up, right, down, left) were randomly presented in peripheral positions on the screen. Participants were instructed to recognize only the arrow indicating a specific direction for an object to move. P300 epochs, synchronized with the stimulus, were analyzed on-line via Independent Component Analysis (ICA) with subsequent feature extraction and classification by using a neural network. RESULTS: We tested the reliability and the performance of the system in real-time. The system needed a short training period to allow task completion and reached good performance. Nonetheless, severely impaired patients had lower performance than healthy participants. CONCLUSIONS: The proposed system is effective for use with healthy participants, whereas further research is needed before it can be used with locked-in syndrome patients. SIGNIFICANCE: The P300-based BCI described can reliably control, in 'real time', the motion of a cursor on a graphical interface, and no time-consuming training is needed in order to test possible applications for motor-impaired patients.
Subject(s)
Brain/physiopathology , Event-Related Potentials, P300/physiology , Paralysis/physiopathology , User-Computer Interface , Adult , Aged , Biofeedback, Psychology , Electroencephalography/methods , Female , Humans , Male , Middle Aged , Pattern Recognition, Visual/physiology , Photic Stimulation/methods , Reproducibility of Results , Signal Processing, Computer-AssistedABSTRACT
Midgut malrotation with volvulus is a life-threatening surgical emergency. Because the consequences of malrotation associated with midgut volvulus may be catastrophic, prompt diagnosis and treatment are required to prevent mortality and short-gut syndrome. Intestinal malrotation is usually observed in the neonatal period. Bilious vomiting and bloody stools are the two most common clinical presentations, but the patients exhibit often no abnormal physical findings on abdominal examination. Imaging techniques (Rx, US) of the upper gastrointestinal tract must be very accurate in order to diagnose volvulus but frequently they fail to identify this illness. If any doubt exists, refer with pediatric surgical support for consultation.
