Factors predicting disease progression in C9ORF72 ALS patients

Journal of Neurology - To unveil clinical features, comorbidities, disease progression and prognostic factors in a population-based cohort of ALS patients carrying C9ORF72 expansion...     

Heart-type fatty acid binding protein is an early marker of myocardial damage after radiofrequency catheter ablation

ObjectivesRadiofrequency (RF) ablation of arrhythmias induces myocardial damage and release of biomarkers. This study aimed to assess the kinetics of heart-type fatty acid-binding protein (h-FABP), a cytosolic protein released after myocardial injury incurred by both atrial and ventricular RF ablation, compared to other markers of myocardial injury.Design and methodsh-FABP, cTnI, CK-MB_mass and myoglobin were evaluated in 30 patients with atrial or ventricular tachyarrhythmias before, immediately after and at 3, 6 and 24 h after the procedure.Resultsh-FABP increased immediately after the procedure in all subjects (6.6 ± 1.2 μg/L vs 2.7 ± 0.3, p < 0.001) but increased significantly only in ventricular ablations. The peak of h-FABP significantly correlates with the values of time for mean power of RF application in both the entire patient cohort and in ventricular ablations.Conclusionsh-FABP may be an early parameter for monitoring RF-induced lesions and the site of ablation was relevant for biomarker increase.     

Nijmegen Breakage Syndrome-associated T-cell-rich B-cell Lymphoma: Case Report

In 1981 Weemaes et al. first described the Nijmegen breakage syndrome (NBS), a rare autosomal recessive disorder characterized by stunted growth, microcephaly, immunodeficiency, spontaneous chromosome instability, and a peculiar predisposition to cancer development. Most NBS-related malignancies are lymphomas, but their pathologic features have rarely been specified. We report here the case of a northern Italian 8-year-old child who, 2 years after the diagnosis of NBS, developed a diffuse large B-cell lymphoma (T cell–rich B-cell lymphoma variant). The histological and immunobiological features of the lymphoma population are analyzed and discussed in detail. Received March 29, 1999; accepted June 18, 1999.     

Mesothelioma of the tunica vaginalis testis: report of 2 cases with asbestos occupational exposure

We report here 2 cases of malignant mesothelioma of the tunica vaginalis testis. A 67-year-old man with a left testicular mass was referred for left inguinal orchidectomy. Histologic examination showed a malignant mesothelioma of epithelial type. There is no evidence of recurrence at 2-year follow-up. The patient had been exposed to asbestos 12 years previously for a 30-year period. An 80-year-old man presented a 5-year history of scrotal swelling. Clinical examination revealed a hydrocele. The patient underwent resection of the tunica vaginalis through scrotal incision. Microscopic examination showed a malignant mesothelioma of biphasic type. There is no evidence of recurrence at 2-year follow-up. The patient had been exposed to asbestos 52 years previously for a 5-year period.     

Visually cued motor synchronization: modulation of fMRI activation patterns by baseline condition

A well-known issue in functional neuroimaging studies, regarding motor synchronization, is to design suitable control tasks able to discriminate between the brain structures involved in primary time-keeper functions and those related to other processes such as attentional effort. The aim of this work was to investigate how the predictability of stimulus onsets in the baseline condition modulates the activity in brain structures related to processes involved in time-keeper functions during the performance of a visually cued motor synchronization task (VM). The rational behind this choice derives from the notion that using different stimulus predictability can vary the subject's attention and the consequently neural activity. For this purpose, baseline levels of BOLD activity were obtained from 12 subjects during a conventional-baseline condition: maintained fixation of the visual rhythmic stimuli presented in the VM task, and a random-baseline condition: maintained fixation of visual stimuli occurring randomly. fMRI analysis demonstrated that while brain areas with a documented role in basic time processing are detected independent of the baseline condition (right cerebellum, bilateral putamen, left thalamus, left superior temporal gyrus, left sensorimotor cortex, left dorsal premotor cortex and supplementary motor area), the ventral premotor cortex, caudate nucleus, insula and inferior frontal gyrus exhibited a baseline-dependent activation. We conclude that maintained fixation of unpredictable visual stimuli can be employed in order to reduce or eliminate neural activity related to attentional components present in the synchronization task.     

Effects of an orientation illusion on motor performance and motor imagery

Although the effect of visual illusions on overt actions has been an area of keen interest in motor performance, no study has yet examined whether illusions have similar or different effects on overt and imagined movements. Two experiments were conducted that compared the effects of an orientation illusion on an overt posture selection task and an imagined posture selection task. In Experiment 1 subjects were given a choice of grasping a bar with the thumb on the left side or right side of the bar. In Experiment 2 subjects were instructed to only imagine grasping the bar while remaining motionless. Subjects then reported which side of the bar their thumb had been placed in imagined grasping. Both the overt selection and imagined selection tasks were found to be sensitive to the orientation illusion, suggesting that similar visual information is used for overt and imagined movements, with both being sensitive to an orientation illusion. The results are discussed in terms of the visual processing and representation of real and imagined actions.     

Respiratory mechanics in COPD patients who failed non-invasive ventilation: Role of intrinsic PEEP

The purpose was to determine if 2 weeks of buspirone suppressed post-hypoxic breathing instability and pauses in the C57BL/6J (B6) mouse. Study groups were vehicle (saline, n=8), low-dose (1.5 mg/kg, n=8), and high-dose buspirone (5.0 mg/kg, n=8). Frequency, measured by plethysmography, was the major metric, and a pause defined by breathing cessation >2.5 times the average frequency. Mice were tested after 16 days of ip injections of vehicle or drug. On day 17, 4 mice in each group were tested after buspirone and the 5-HT(1A) receptor antagonist, 4-iodo-N-{2-[4-(methoxyphenyl)-1-piperazinyl] ethyl}-N-2-pyridinyl-benzamide (p-MPPI, 5 mg/kg). A post-hypoxic pause was present in 6/8 animals given vehicle and 1/16 animals given buspirone at either dose, but always present (8/8) with p-MPPI, regardless of buspirone dose. Post-hypoxic frequency decline was blunted by buspirone (-10% vehicle vs. -5% at both doses) and restored by p-MPPI; ventilatory stability as described by the coefficient of variation which was reduced by buspirone (p<0.04) was increased by p-MPPI (0.01). In conclusion, buspirone administration after 2 weeks acts through the 5-HT(1A) receptor to reduce post-hypoxic ventilatory instability in the B6 strain.