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Biomedical subjects

L Trojano

Publications and source records attributed to L Trojano.

At least 19 recordsLinked to original sources

Two novel Italian CADASIL families from Central Italy with mutation CGC-TGC at codon 1006 in the exon 19 Notch3 gene.

Here we describe clinical, neuropsychological and neuroradiological findings in 6 subjects belonging to two unrelated Italian cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) kindreds from the same geographic area who shared a common Arg1006Cys mutation. Subjects from Family A were virtually asymptomatic, and yet showed MRI pathological findings and a cluster of sub-clinical neuropsychological defects mainly centred on the visuospatial domain; patients from Family B had presented several clinically relevant episodes and showed a general cognitive impairment compatible with the clinical picture of vascular dementia. The present clinical observations are consistent with the hypothesis of a geographical clustering for CADASIL, and highlight that sub-clinical cognitive impairment may help to identify this syndrome in families presenting with only migraine.

Aged↗

Post-exercise facilitation and depression of motor evoked potentials to transcranial magnetic stimulation: a study in multiple sclerosis.

OBJECTIVE: To evaluate motor cortex excitability changes by transcranial magnetic stimulation (TMS) following repetitive muscle contractions in patients with multiple sclerosis (MS); to state whether a typical pattern of post-exercise motor evoked potentials (MEPs) is related to clinical fatigue in MS. METHODS: In 41 patients with definite MS (32 with fatigue and 9 without fatigue according to Fatigue Severity Scale) and 13 controls, MEPs were recorded at rest: at baseline condition, following repetitive contractions until fatigue, and after fatigue, to evaluate post-exercise MEP facilitation (PEF) and depression (PED). RESULTS: After exercise, MEP amplitude significantly increased both in patients and controls (PEF). When fatigue set in, MEP amplitude was significantly reduced in normal subjects (PED), but not in patients. Post-exercise MEP findings were similar both in patients with and without fatigue. CONCLUSIONS: Our findings suggest an intracortical motor dysfunction following a voluntary contraction in MS patients, possibly due to failure of depression of facilitatory cortical circuits, or alternatively of inhibitory mechanisms.

Adult↗

Verbal memory impairment in congestive heart failure.

Cognitive dysfunction, mainly memory impairment, characterizes congestive heart failure (CHF). Aim of this study was to verify whether: (1) CHF has differential effects on primary and secondary memory; (2) memory dysfunction can be diagnosed by a screening instrument. In a multicenter study we enrolled 369 patients with stable CHF who underwent a structured assessment of verbal memory mechanisms and selected cognitive functions. Performance on some verbal memory indexes (Recency, Rey's immediate and delayed recall, Learning efficiency) progressively decreased from II to IV New York Heart Association (NYHA) class. Rate of forgetting was uniformly high across NYHA classes II-IV. Verbal memory indexes were highly correlated with most nonverbal scores. The Mini Mental State Examination (MMSE) had poor sensitivity and specificity versus primary or secondary verbal memory dysfunction. Therefore, a deficit of both primary and secondary memory is relatively common in CHF but cannot be accurately recognized by a screening neuropsychological test.

Activities of Daily Living↗

On selective left neglect during walking in a child.

In this article we describe a child affected by right parieto-occipital lesion due to head injury. The patient showed left hemianopia, but not unilateral spatial neglect on traditional paper-and-pencil tests and on "ecological" tests. However, his parents reported frequent collisions with obstacles on the left side. A specific test was set up: The patient had to kick down skittles put on both sides of a route traced on the floor. He kicked down 89% of skittles on the right, but only 38% on the left side. These findings are discussed in light of recent theories on unilateral neglect.

Brain Injuries↗

Relative lymphocyte count: a prognostic indicator of mortality in elderly patients with congestive heart failure.

BACKGROUND: A reduction in the relative lymphocyte count is a marker of the stress response; however, its prognostic value remains undetermined. The objective of this study was to investigate the predictive value of the relative lymphocyte count for survival in elderly patients with congestive heart failure (CHF). METHODS AND RESULTS: One thousand two hundred seventy-four consecutive patients above the age of 65 years hospitalized with heart disease were enrolled in the CHF Italian Study and followed up for 3 years. Of these, 413 patients were excluded because of factors that could affect the lymphocyte count. Of the remaining 861 patients, 423 (49%) met the criteria for the diagnosis of CHF (mean age 76 +/- 7 years, 51% men), of whom 162 patients (38%) had a relative lymphocyte count < or = 20%. The 3-year all-cause mortality in patients with CHF and a relative lymphocyte count < or = 20% was 64% compared with 40% in patients with a relative lymphocyte count > 20% (P < .0001). The age- and sex-adjusted hazard ratio for death in patients with CHF and low relative lymphocyte count was 1.76 (95% confidence interval 1.34-2.32, P = .0001). After adjustment for baseline differences and variables associated with or known to affect lymphocyte count, the hazard ratio remained significantly different from 1.0 (hazard ratio 1.73, 95% confidence interval 1.21-2.48, P = .0026). CONCLUSION: A low relative lymphocyte count is an independent marker of poor prognosis in elderly patients with CHF. The relative lymphocyte count is a simple, accurate, widely available, and inexpensive marker that can help to identify elderly patients with CHF who are at increased risk for mortality. The pathophysiologic mechanism of this observation remains to be determined.

Aged↗

Spatial cognition in children. I. Development of drawing-related (visuospatial and constructional) abilities in preschool and early school years.

The present study aimed to investigate the acquisition of visuospatial and graphomotor capacities during the pre-school and early schooling years in order to follow the normal development of drawing-related abilities and spatial cognition. Eighty children aged 3-5 years, divided in four subgroups each different for a 6-month period, and 80 children aged 8-9 years were administered a neuropsychological battery for visuospatial and visuoconstructional analysis. The battery explored five cognitive domains: visual scanning, visuospatial perceptual and representational abilities, visuomotor control and graphomotor skills. Results showed that the total scores significantly improved in each group of children with respect to the previous one, but the pattern of skill acquisition was not homogeneous. We observed a gradient from explorative and visuomotor to perceptive, representational and graphomotor abilities. Explorative and visuomotor abilities were almost mature at a time when visuoperceptual capacities began to develop. On the contrary, at that time we found very low performances at representational and constructional tasks. Our findings could suggest that constructional abilities need both perceptual and representational competences to develop properly.

Child Development↗

Spatial cognition in children. II. Visuospatial and constructional skills in developmental reading disability.

Cognitive models for developmental dyslexia are nowadays centered on the hypothesis of a specific deficit within the phonologic module of the language system. To ascertain whether defects of spatial cognition are associated with developmental reading disability, we investigated a sample of 43 school children (aged 8-9 years) found to be reading impaired during a wide screening survey for developmental dyslexia in the province of Naples, Italy. After one year all children were tested again and only 9/43 still presented reading impairment, while the remaining had achieved a variable range of spontaneous recovery. A detailed analysis was performed on all children to characterize their cognitive performances using on one hand classical conventional tests for constructional praxis, visuospatial cognition, and visuospatial memory and on the other a specific neuropsychological battery for constructional disorders. The results of our study demonstrated that children with long-lasting reading impairment exhibited normal performances on spatial cognition tasks. Moreover, one single child was found with relevant visuospatial deficits pointing to the possible existence of a visuospatial subtype for developmental dyslexia.

Child↗

Patterns of motor control reorganization in a patient with mirror movements.

OBJECTIVE: To explore motor control reorganization in a 40-year-old, left-handed patient with perinatally acquired mirror movements. METHODS: We performed simultaneous bilateral recordings of motor evoked potentials (MEPs) following focal transcranial magnetic stimulation (fTMS) and of central silent period (cSP) during unilateral voluntary contraction in abductor pollicis brevis (APB) and abductor digiti minimi (ADM) muscles. RESULTS: For both muscles the MEP study showed bilateral fast-conducting corticospinal projections from the right undamaged hemisphere, and residual contralateral projections from the left hemisphere. The cSP findings differed in the two muscles: the mirror phenomenon was bilateral in the ADM, but present only on the right side in the APB muscles; the mirror activity of right ADM and APB muscles was inhibited only by fTMS of the ipsilateral right motor cortex; the mirror phenomenon in the left ADM muscle was inhibited only by fTMS of the contralateral right motor cortex. CONCLUSIONS: Mirror movements of right APB and ADM muscles were sustained by the ipsilateral connections from the undamaged motor cortex, while the mirror phenomenon in the left ADM muscle could be explained by hypothesizing a bilateral activation of motor cortices. This previously unreported electrophysiological picture demonstrates that different patterns of motor control may realize after perinatal cerebral lesions, even in different distal muscles of the same patient.

Adult↗

Matching two imagined clocks: the functional anatomy of spatial analysis in the absence of visual stimulation.

Do spatial operations on mental images and those on visually presented material share the same neural substrate? We used the high spatial resolution of functional magnetic resonance imaging to determine whether areas in the parietal lobe that have been implicated in the spatial transformation of visual percepts are also activated during the generation and spatial analysis of imagined objects. Using a behaviourally controlled mental imagery paradigm, which did not involve any visual stimulation, we found robust activation in posterior parietal cortex in both hemispheres. We could thus identify the subset of spatial analysis-related activity that is involved in spatial operations on mental images in the absence of external visual input. This result clarifies the nature of top-down processes in the dorsal stream of the human cerebral cortex and provides evidence for a specific convergence of the pathways of imagery and visual perception within the parietal lobes.

Adult↗

Effect of beta-blockade on the premature ventricular beats/heart rate relation and heart rate variability in patients with coronary heart disease and severe ventricular arrhythmias.

We examined the effects of beta-blockers on the associations between heart rate and number of premature ventricular beats (PVBs) and on heart rate variability and myocardial ischemia in patients with coronary heart disease. After 2 weeks of run-in placebo treatment, 18 patients with coronary artery disease were randomized to a 7-day treatment with either propranolol (40 mg) three times a day or placebo. During run-in and after 7 days of treatment, patients underwent 24-hour Holter monitoring and exercise tests. We analyzed the 24-hour Holter recordings with customized software that computes the correlation between heart rate and occurrence of PVBs. We also computed spectral measures of heart rate variability on the same recordings. Propranolol caused a significant decrease in the log-transformed total number of PVBs recorded over 24 hours and during the day. The number of PVBs was much lower during the night than during the day both after placebo and after propranolol. There were no differences between the two treatments. During the day, there was a positive correlation between heart rate and the number of PVBs in all 18 patients. The mean correlation coefficients between heart rate and number of PVBs increased significantly after propranolol treatment both during the 24-hour monitoring (p < 0.05) and during the day (p < 0.05). The night-recorded correlation coefficients between heart rate and number of PVBs were not significantly different in the placebo versus propranolol group. Propranolol significantly increased the total power during the day. Placebo caused a significant decrease in the low-frequency band (LF) and a significant increase in the high-frequency band (HF) during the night compared with the day. During the day, propranolol significantly reduced LF power and increased HF power, with respect to placebo. After propranolol treatment, the values of LF and HF power during the day were comparable to those recorded at night. The LF/HF ratio decreased significantly after propranolol treatment with respect to placebo in the day and became similar to that recorded during sleep. Propranolol significantly reduced heart rate and systolic blood pressure at rest and at peak exercise and reduced signs of myocardial ischemia. Propranolol administration reduces PVBs in patients with coronary artery disease and severe ventricular arrhythmias possibly through an improvement of cardiac autonomic regulation and through anti-ischemic effects, antiarrhythmic effects, or both.

Adrenergic beta-Antagonists↗

Neglect-associated constructional disorders: a paradoxical phenomenon?

Five neglect patients without diffuse cognitive impairment or overt constructional disabilities were asked to bisect lines and rectangles and to copy rectangles bisected in their midplane. As a group, patients showed the usual rightward bias in bisecting lines and a milder deviation in bisecting horizontally-aligned rectangles, but showed a leftward deviation of the subjective midline in the copying task. This was due to drawing the left half shorter with respect to normal controls but three patients also drew the right half longer (the total length was the same as that of controls). A possible interpretation of rectangle copying results in these three patients is that they could create a representation of the stimulus to be copied accurately enough to reproduce its total length correctly but the subjective distribution of right and left space within that representation was unbalanced. However, specific experimental work is needed to verify why our patients with mild to moderate unilateral spatial neglect overrepresented the left side in a line bisection task and underrepresented it in a copying task.

Aged↗

Determinants of cognitive disorders in Autosomal Dominant Cerebellar Ataxia type 1.

We assessed neuropsychological performances of 22 patients affected by Autosomal Dominant Cerebellar Ataxia type 1. All subjects completed a comprehensive battery of standardized tests requiring a verbal response, without time constraints. In order to verify the hypothesis that disease severity is the major factor in determining the cognitive status in this syndrome, patients were divided into three groups according to the severity of the clinical picture, as evaluated by the Inherited Ataxias Progression Scale (IAPS). Statistical analysis of the three groups' raw scores showed a significant decrement in patients with more severe clinical pictures on verbal short-term memory tasks. A similar trend, but not significant, was seen for general intelligence tests and verbal learning tasks. The decrement of verbal short-term memory could be related to motor speech problems. On the other hand, the decline of cognitive abilities over the course of the Autosomal Dominant Cerebellar Ataxia type 1 was not homogeneous enough to ensure statistically reliable trends. Therefore, this cross-sectional study suggests that the progression of the disease is a necessary factor in determining cognitive decline, but it is not sufficient. Other disease-related factors (age at onset, genotypic variety) could play a critical role: among these, the size of the expanded CAG repeats is significantly related to a decline of verbal intelligence and short-term memory in SCA2 patients.

Adult↗

Development and validation of a clinical history form for the diagnosis of congestive heart failure.

Our aim was to develop and validate a new diagnostic tool for congestive heart failure (CHF) based only on clinical examination, medical history and current drug use. In the developmental phase, we enrolled 520 consecutive patients with heart disease of different etiology; the diagnosis of CHF was made by means of Smith's clinical and radiological criteria, and the Boston criteria, with a substantial interscale agreement (kappa = 0.89). The initial version of our Form included 37 items on clinical examination, medical history and drug use information. After an item reduction process, the final version of the Clinical History Form (CH Form) included 15 items, each with a score 1 to 4. The CH Form score showed a progressive, significant increase as NYHA Class increased. With a cut-off of 4 points, sensitivity was 88.6% and specificity 86.8% against Smith's criteria for diagnosis of CHF. Substantial interrater agreement was observed for all the 15 items (kappa > 0.6) on a subsample of 250 patients. In the validation phase, we studied an independent sample of 72 patients with heart disease. The CH Form was significantly correlated with left ventricular ejection fraction (r = 0.42; p < 0.0005) and peak oxygen consumption (r = 0.69; p < 0.0001). In the 64 (89%) patients who underwent non-emergent right-heart catheterization, the CH Form score was significantly correlated with pulmonary capillary wedge pressure (r = 0.84; p < 0.0001). The CH Form may represent a useful instrument for the diagnosis of CHF.

Aged↗

A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). A 2-year neuropsychological follow-up.

We report a 2-year prospective neuropsychological study of five asymptomatic subjects with magnetic resonance imaging (MRI) abnormalities from an Italian kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). These subjects completed tests for attention capacities, processing speed, abstract thinking, short-term memory, learning and constructional praxis. Seven normal subjects matched for age and education, belonging to the same pedigree and not having MRI hyperintensities were examined as controls. The results did not show significant differences between asymptomatic subjects and normal controls. Cognitive performance of asymptomatic subjects did not deteriorate during a 2-year follow-up. Our findings suggest that, at this stage of the disease process, the presence of diffuse leukoencephalopathy does not imply subtle cognitive defects.

Adult↗

Effects of delapril in combination with indapamide on blood pressure and left ventricular mass in elderly hypertensive patients.

We present a single-blinded, placebo-controlled trial of the effects on blood pressure and left ventricular mass and of the safety of a combined antihypertensive treatment with delapril, a new nonsulfhydryl angiotensin-converting enzyme inhibitor, and indapamide, a sulfonamide diuretic. We studied 28 elderly patients aged 65-85 years (mean age, 69 +/- 1) with sitting systolic/diastolic blood pressure of 160-200/95-115 mm Hg (at the end of the placebo period). After a 2-week placebo run-in, patients took 30 mg delapril in combination with 1.25 mg indapamide once daily for 24 weeks. Twenty-four-hour ambulatory blood pressure was monitored and M- and B-mode echocardiography were performed before and after 24 weeks of treatment. Blood pressure decreased from 156 +/- 1.5/101 +/- 1 mm Hg before treatment to 133 +/- 1/73 +/- 1 mm Hg after treatment. The total blood pressure burden also decreased; the percentage of measurements with a systolic blood pressure > or = 140 mm Hg and a diastolic blood pressure > or = 90 mm Hg decreased from 48.7% +/- 5%/31.5% +/- 4.3% to 23.5% +/- 4%/20.5% +/- 2.9% (p < 0.0005 and p < 0.05). The area under the curve of the 24-hour blood pressure decreased from 250 +/- 41/103 +/- 21 mm Hg to 97 +/- 21/37 +/- 8.5 mm Hg (p < 0.001 and p < 0.005). The left ventricular mass index (LVMI) in the 15 patients with pretreatment left ventricular hypertrophy was reduced after therapy from 167.5 +/- 8.5 g/m 2 to 152.2 +/- 7.6 g/m 2 (p < 0.05). A positive correlation was observed between percent changes of the area under the curve of the 24-hour diastolic blood pressure and percent changes of LVMI (r = 0.6; p < 0. 05) in the 15 patients with left ventricular hypertrophy. Only 2 patients reported side effects: 1 developed skin rash and 1 developed headache. The safety of the treatment was confirmed by laboratory tests. In elderly hypertensive patients, the combination of delapril and indapamide at low doses reduced blood pressure and had favorable effects on LVMI with few side effects.

Age Factors↗

The selective inability to draw horizontal lines: a peculiar constructional disorder.

A patient is described who was affected by degenerative dementia and who developed severe constructional apraxia. She showed a dissociation between the construction of horizontal lines (impaired) and oblique or vertical lines (spared) which has never been reported previously. A battery of tests disclosed that this phenomenon was consistent across a range of experimental conditions and that a similar dissociation was evident in perceptual and representational domains. This peculiar clinical finding suggests that mental representations of horizontal and vertical spatial relations in an egocentric coordinate system are functionally dissociated.

Apraxias↗