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Biomedical subjects

V Bonavita

Publications and source records attributed to V Bonavita.

At least 19 recordsLinked to original sources

Hypnic headache: an update.

Hypnic headache (HH) is a rare sleep-associated primary headache disorder, usually affecting aged people, first described by Raskin in 1988. The headache attacks, single or multiple in one night, occur exclusively during sleep and tend to present at a consistent time each night, sometimes during a dream. Compared to the original description, newly reported cases have expanded the clinical spectrum of the disorder to include unilateral forms (about 40%, half of which are side-locked), forms with a longer duration (up to 3 h) and cases with onset in juvenile/adult age. The male predominance found in Raskin's series has not been confirmed by subsequent observations. To date the reported F/M ratio is 1.7/1. Pain is of severe intensity in less then one-third of cases and mild-moderate in about two-thirds. The location of pain is fronto-temporal in over 40% of cases; headache is throbbing in 38% of cases, dull in 57% and stabbing in less than 5%. Nausea is reported in 19% of cases; photophobia, phonophobia or both are present in 6.8%. Mild autonomic signs (lacrimation, nasal congestion, ptosis) may rarely be present. In 2004, HH was included in Group 4 of the International Classification of Headache Disorders-II (Other primary headaches). Sufficient evidence, mainly from polysomnographic studies, indicates that HH is a primary rapid eye movement (REM) sleep-related headache disorder of chronobiological origin. Lithium, melatonin, indomethacin and caffeine at bedtime are among the most effective therapeutic options. The pathophysiology of HH is still unclear. Available data allow speculation that, in predisposed subjects, an age-related impairment of suprachiasmatic nucleus could cyclically activate a disnociceptive mechanism leading to both a sudden awakening and headache. The mechanism may be precipitated by neurophysiologic events such as the strong reduction of firing occurring in the dorsal raphe nucleus during a REM sleep phase.

Headache Disorders, Primary↗

The end of the central dogma of neurobiology: stem cells and neurogenesis in adult CNS.

Until the 1990s, neurologists were practising their profession under the doctrine established in the late 19th to early 20th century by the prominent histologist Ramon y Cajal: "Once the development was ended, the founts of growth and regeneration of the axons and dendrites dried up irrevocably. In the adult centers, the nerve paths are something fixed, ended, and immutable. Everything may die, nothing may be regenerated. It is for the science of the future to change, if possible, this harsh decree." Similarly, Giulio Bizzozero, the most prominent Italian histologist and mentor of Camillo Golgi, classified the tissues of the human body into "labile, stable and perennial". Among the latter were the nerve cells, believed to be unable to proliferate in the postnatal brain. This classification was taught until a few years ago to generations of medical students and biologists all over the world. We have investigated the historical, methodological and technical reasons why this "central dogma of neurology", so influential in clinical and experimental neurology, has lasted so long. We examined how this dogma was broken and who contributed, and the difficulties encountered by the "heretical" researchers who contributed to this goal, especially between the 1960s and the early 1990s, when at last neurogenesis in the adult brain could no longer be denied. Finally, we propose that the understanding of the mechanisms underlying various neurological diseases and the interpretations of clinical syndromes, as well as the design of new therapies, are being revolutionised by the breaking of this dogma and the discovery of the presence of neural stem cells in the adult brain.

Cell Differentiation↗

Brain atrophy and lesion load in a large population of patients with multiple sclerosis.

OBJECTIVE: To measure white matter (WM) and gray matter (GM) atrophy and lesion load in a large population of patients with multiple sclerosis (MS) using a fully automated, operator-independent, multiparametric segmentation method. METHODS: The study population consisted of 597 patients with MS and 104 control subjects. The MRI parameters were abnormal WM fraction (AWM-f), global WM-f (gWM-f), and GM fraction (GM-f). RESULTS: Significant differences between patients with MS and control subjects included higher AWM-f and reduced gWM-f and GM-f. MRI data showed significant differences between patients with relapsing-remitting and secondary progressive forms of MS. Significant correlations between MRI parameters and between MRI and clinical data were found. CONCLUSIONS: Patients with multiple sclerosis have significant atrophy of both white matter (WM) and gray matter (GM); secondary progressive patients have significantly more atrophy of both WM and GM than do relapsing-remitting patients and a significantly higher lesion load (abnormal WM fraction); lesion load is related to both WM and even more to GM atrophy; lesion load and WM and GM atrophy are significantly related to Expanded Disability Status Scale score and age at onset (suggesting that the younger the age at disease onset, the worse the lesion load and brain atrophy); and GM atrophy is the most significant MRI variable in determining the final disability.

Adolescent↗

Sudden re-opening of collapsed transverse sinuses and longstanding clinical remission after a single lumbar puncture in a case of idiopathic intracranial hypertension. Pathogenetic implications.

The aetiopathogenetic role of sinus venous obstructions carried by most idiopathic intracranial hypertension (IIH) patients is controversial. We report the case of a young woman diagnosed with IIH with papilloedema and narrowing of transverse sinuses, in which lowering of intracranial pressure by a single 20 ml cerebrospinal fluid (CSF) resulted in a strong dimensional increase of the transverse sinuses. Changes were followed by clinical remission and normalisation of optical nerve calibre, maintained after a 2-month follow-up. Our findings indicate that, although secondary to CSF hypertension, venous sinuses compression may have an important role in hypertensive status maintenance. Pathogenetic implications of venous sinus compression by hypertensive CSF in IIH are discussed.

Adult↗

A clinical comparison of trigeminal neuralgic pain in patients with and without underlying multiple sclerosis.

Despite clinical similitude, there is a tendency to consider trigeminal pain in multiple sclerosis (MS) as a distinct condition. To evaluate clinical differences in trigeminal pain presentation in patients with and without underlying MS, we compared clinical characteristics of facial pain found in 15 consecutive MS patients with those reported by 13 consecutive subjects diagnosed with classical trigeminal neuralgia. The only significant difference between MS and non-MS neuralgic patients was the age of onset of pain (43.4+/-10.5 in MS vs. 59.6+/-11.50 in non-MS patients, p=0.000629, unpaired Student's t-test). No differences were observed for side, duration and quality of pain, trigeminal branches involved, presence of trigger areas or factors, pain refractive period, remitting-relapsing or chronic course. There was only a trend without statistical significance in interval pain and trigeminal hypoesthesia, more frequent in MS population. Only one patient in the MS group presented with long-lasting episodes (45-60 min) of atypical odontalgia. Our findings support the view of a common pathogenetic mechanism underlying TN in the two groups, possibly related to demyelination of the trigeminal entry root in the pons. Typical TN in MS patients should be considered as "symptomatic trigeminal neuralgia".

Adult↗

Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease.

OBJECTIVE: To investigate whether the presence of parkin gene mutations is associated with different nigrostriatal impairment than other early-onset parkinsonism. METHODS: Eighteen consecutive early-onset Parkinson disease (PD) patients (nine parkin and nine nonparkin patients) and six controls were studied with [123I]FP-CIT SPECT. RESULTS: Parkin patients had longer disease duration (15 +/- 9 vs 6 +/- 2 years, p = 0.008) and higher Unified Parkinson's Disease Rating Scale (UPDRS) motor score (35.8 +/- 13.7 vs 22.8 +/- 7.9, p = 0.025) than nonparkin patients. Caudate and putamen DAT density were reduced by 60% and 79% in parkin and by 43% and 70% in nonparkin patients. Multiple regression analysis showed that the UPDRS and the presence of parkin gene mutations, but not the disease duration, were significantly correlated with the striatal DAT density. Parkin patients showed a more symmetric DAT loss in both caudate and putamen as compared with nonparkin patients. CONCLUSIONS: Parkin-related disease may be associated with a higher degree of nigrostriatal impairment, independently of the clinical severity of the disease, and a more symmetric involvement as compared with non-parkin early-onset disease.

Adolescent↗

Physical therapy in Parkinson's disease: an open long-term rehabilitation trial.

The aim of this study was to evaluate the effects of prolonged physical therapy on disability in patients with Parkinson's disease. The study was designed as an open long-term trial over 20 weeks. Twenty slightly to moderately affected parkinsonian patients were included (Hoehn & Yahr stages: 1.5-3). A comprehensive rehabilitation program was applied three times a week in all patients. Pharmacological treatment was kept stable. Evaluations were performed at baseline, at the end of treatment and after 3 months. Following physical rehabilitation, there was a significant improvement in UPDRS (ADL and motor sections) scores, Self-assessment Parkinson's disease Disability Scale, Ten-Meter Walk test and Zung scale for depression. At 3-month follow-up clinical improvements were largely maintained. A sustained improvement of motor skills in PD patients can be achieved with a long-term comprehensive rehabilitation program.

Aged↗

Headache and neurology.

The aim of this lecture is to analyse the position of headaches and especially of migraine within the body of neurological knowledge. Historical, clinical and pathophysiological data have been selected for discussion.

Biological Evolution↗

Towards the computerisation of ANIRCEF Headache Centres. Presentation of AIDA CEFALEE, a computer assisted diagnosis database for the management of headache patients.

Because of the lack of biochemical or neuroradiological markers, the diagnostic assessment of primary headaches rests on a clinical history collected by an experienced physician; the articulated criteria of the International Headache Society (IHS) represent the only available tool to test objectively the diagnostic hypothesis rising from clinical interview. However, the complexity reached by IHS criteria still represents its major limit to extensive application, at least in common clinical settings. The use of modern information technology (IT), which is specifically designed to manage complex problems with a large number of variables, seems to be the best choice to counteract the complexity of IHS classification. In this paper AIDA CEFALEE, a user-friendly client-server database for the management of headache patients, is presented. The system integrates a computer assisted diagnosis module, which may help to extend the correct use of IHS diagnostic criteria to any clinical setting. The interoperability of the system may represent the possible infrastructure of a National Network of ANIRCEF Headache Centres.

Databases, Factual↗

Validation of the Guidelines for the Diagnosis of Dementia and Alzheimer's Disease of the Italian Neurological Society. Study in 72 Italian neurological centres and 1549 patients.

The objective of this study was to verify the adherence of Italian family physicians and neurologists to the Guidelines on Diagnosis of Dementia of the Italian Society of Neurology. A multicentre survey was carried out, in 72 neurological centres. The centres included at least 15 consecutive subjects suspected of having a dementia. The adherence of family physicians to the guidelines was poor. Neurologists performed a complete neuropsychological evaluation in a minority of the cases. Patients who had a decrease of Mini Mental Status Examination scores after six months higher than or equal to 4 were more represented among those patients for whom one or more recommendations were not respected. In Italy the adherence to the Guidelines on Diagnosis of Dementia and AlzheimerValidation studys Disease of the Italian Society of Neurology is very poor for family physicians (GPs) and satisfactory, albeit improvable, on the part of neurologists. Respect for the guidelines might improve the outcome of patients with dementia.

Aged↗

Deep brain stimulation for intractable chronic cluster headache: proposals for patient selection.

Cluster headache is the most severe of the primary headaches. Positron emission tomography and functional MRI studies have shown that the ipsilateral posterior hypothalamus is activated during cluster headache attacks and is structurally asymmetric in these patients. These changes are highly specific for the condition and suggest that the cluster headache generator may be located in that brain area; they further suggest that electrical stimulation of that region might produce clinical improvement in chronic cluster headache sufferers refractory to medical therapy. In five patients with severe intractable chronic cluster headache, hypothalamic electrical stimulation produced complete and long-term pain relief with no relevant side-effects. We therefore consider it essential to propose criteria for selecting chronic cluster headache patients for hypothalamic deep brain stimulation before this procedure is undertaken at other academic medical centres.

Cluster Headache↗

Treatment of migraine with aura: comments and perspectives.

Migraine with aura (MwA) is a primary headache that affects about 30% of migraine sufferers. The main questions for the physician caring for the patient who has MwA are: when to use preventive medications, what medications to use in acute and preventive treatment, and whether the aura should be treated. The aim of this paper is to review the various therapeutic options for MwA proposed in the current literature and to evaluate their efficacy.

Adolescent↗

Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy.

OBJECTIVE: To perform a clinical and molecular study of a large autosomal dominant family with a complex neurologic syndrome that comprises early-onset dementia, extrapyramidal and cerebellar features, and epilepsy. BACKGROUND: Early-onset forms of dementia often are caused by genetic factors. Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. Linkage to chromosome 3 has been found in familial nonspecific dementia (FND) and linkage to chromosome 20 has been found in Huntington disease (HD)-like neurodegenerative disease. Dementia may be a feature of other neurodegenerative diseases such as HD, dentatorubro-pallidoluysian atrophy (DRPLA), diseases caused by mutations of the prion protein gene (PRNP), spinocerebellar ataxias (SCA), and familial parkinsonism. METHODS: A southern Italian family with autosomal dominant dementia-plus was observed. The family includes 57 individuals in 5 generations (14 affected, 7 personally observed). The authors performed linkage analysis to APP, PS-1, PS-2, FTDP-17, BRI, PI12, FND, HD-like, SCA4, SCA5, SCA10, SCA11, SCA13, PARK1, PARK2, PARK3 loci; direct mutation analysis of HD, DRPLA, SCA1, SCA2, SCA3, SCA6, SCA7, SCA8, SCA12, and PRNP genes; and sequencing of the PRNP open reading frame. RESULTS: Linkage to the examined loci was excluded. All of the direct mutation analyses were negative excluding mutations in the examined genes. CONCLUSIONS: This family has a peculiar phenotype and molecular analyses excluded genes known to cause hereditary dementias.

Adult↗

T2 relaxometry of brain in myotonic dystrophy.

We investigated the nature and extent of brain involvement in myotonic dystrophy (DM), examining possible T2 relaxation abnormalities in the brain of 20 patients with adult-onset DM and 20 sex- and age-matched normal controls. Brain MRI was performed at 0.5 T, and T2 values were calculated from signal intensity in two echoes. Regions of interest included: frontal, parietal, temporal, occipital and callosal (rostral and splenial) normal-appearing white matter; frontal, occipital, insular and hippocampal cortex; caudate nucleus, putamen, globus pallidus and thalamus. All white-matter and occipital and right frontal cortex regions showed a significantly longer T2 in the patients. Multiple regression analysis, including grey- and white-matter T2 as dependent variables, plus age at onset and at imaging, disease duration, muscular disability, brain atrophy and CTG trinucleotide repeats as independent variables, revealed that only white-matter T2 elongation and disease duration correlated positively. White-matter involvement in DM is more extensive than previously reported by MRI and neuropathological studies and seems to be progressive in the course of disease.

Adolescent↗