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I Bonaventura

Publications and source records attributed to I Bonaventura.

At least 19 recordsLinked to original sources
PubMed2006

NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study.

The 8993 T>G mutation in mitochondrial DNA has been associated with variable syndromes of differing severity ranging from maternally inherited Leigh's syndrome (MILS) to neuropathy, ataxia, retinitis pigmentosa (NARP), depending on the mutation loads in affected patients. We report a kindred with several members in the same generation suffering NARP or Leigh's syndrome due to a 8993 T>G mutation. Post-mortem studies of the brain in one affected member clinically presenting with a neurological disorder intermediate between adult Leigh's syndrome and NARP showed symmetrical lesions of the basal ganglia and brainstem closely resembling those usually described in typical Leigh's syndrome. Analysis of mtDNA in different tissues showed a high proportion of mutant genome in brainstem, cerebral cortex, putamen, cerebellum and thalamus. These observations illustrate the continuum of clinical and neuropathological manifestations associated with the 8993 T>G mutation of the mtDNA.

Adenosine Triphosphatases↗
PubMed2006

[Survey on the current situation of the young neurologists in Spain: analysis of their current working stability and degree of social protection].

INTRODUCTION: The aims of this study were to evaluate the working stability and degree of social protection of the Spanish young neurologists, and to know their opinion about their own situation. METHODS: The 343 neurologists that became specialists in Spain between 2000 and 2004 were asked to participate in two consecutive surveys. The first, conducted online, included questions about the availability to change the place of work and the opinion about the situation of young neurologists, and obtained 66 answers. The second was a telephonic and online survey, answered by 217 neurologists, whose questions referred to: places of neurological education and work, type of working contract, and degree of social protection (estimated by the percentage of worked time during which they paid Social Security contributions). RESULTS: Sixty-three per cent (136/217) of the Spanish young neurologists had an unstable job. The most frequent unstable working contracts were: eventual (n=65; 31%), on-call contracts (n=54; 25%) and grants (n=53; 24%). Forty-eight per cent of the neurologists who ended their specialization in 2000 still remained working-unstable. The mean percentage of worked time with full social protection was 71.01+/-36.74%. Less than a half (n=101; 46%) had social protection during the entire worked time, 60 (28.6%) were socially protected during <50% of the worked time, and 23 (11%) never had social protection. A direct relationship was observed 68 between working instability and lower social protection (p=0.0002). The working situation of the Spanish young neurologists was seen as problematic by 97% of the 66 participants in the first survey. CONCLUSIONS: The current situation of the Spanish young neurologists, attending their working stability and degree of social protection, seems precarious and problematic. Urgent actions should be taken by the Administration to improve it.

Data Collection↗
PubMed2005

Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.

Two sisters presented with olivopontocerebellar atrophy, neuronal loss in the substantia nigra, intranuclear ubiquitin-, ataxin-2-positive inclusions in neurons, and severe demyelination and axon loss of the cerebral white matter with no accompanying inflammatory pathology. The genetic study demonstrated a 22/36 CAG triplet expansion in the SCA2 gene in one of the sisters; SCA1, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPL were ruled out in this patient. The present report shows that severe cerebral white matter pathology may occur in the context of SCA2.

Adult↗
PubMed2004

Corticosteroids, ibuprofen, and acetaminophen for IFNbeta-1a flu symptoms in MS: a randomized trial.

OBJECTIVE: To compare the efficacy of acetaminophen, ibuprofen, and prednisone in the treatment of interferon beta-1a (IFNbeta-1a) flu-like syndrome (FLS). METHODS: Patients with relapsing-remitting multiple sclerosis initiating treatment with IM IFNbeta-1a were randomized in a multicenter, randomized, double-blind, controlled trial to receive acetaminophen 500 mg before and 6 and 12 hours after each injection, ibuprofen 400 mg before and 6 and 12 hours after each injection, or prednisone 60 mg daily for 1 week, plus tapering. Patients were instructed to keep a daily diary of fever severity, myalgia, chills, headache, and asthenia for 27 days. The sum of the scores of individual symptoms was used to obtain a daily FLS index. The primary outcome was the FLS index area under the curve (AUC) corrected by the number of measurement days. RESULTS: Eighty-four patients were randomized at 11 hospitals: acetaminophen (n = 28), ibuprofen (n = 28), and corticosteroids (n = 28). No differences were detected between treatments in the mean AUC of the FLS index. With limitation of the analysis to the days of IM IFNbeta-1a injection, differences favoring ibuprofen were observed in the mean FLS index (p = 0.0007). CONCLUSIONS: No prophylactic treatment for flu-like syndrome seems to be superior to another in terms of overall well-being during the first month of IM IFNbeta-1a therapy. However, ibuprofen confers better control of symptoms immediately following IM IFNbeta-1a injection.

Acetaminophen↗
PubMed2000

Neuroradiological and clinical findings in rhombencephalosynapsis.

Rhombencephalosynapsis is an unusual disorder characterised by maldevelopment of the rhombencephalon, sometimes with supratentorial midline anomalies. We report MRI findings in a 39-year-old woman, the oldest in the literature. MRI demonstrated hypoplasia of the cerebellar vermis, with fusion of the cerebellar hemispheres and abnormally oriented folia. Supratentorial anomalies were also seen.

Adult↗
PubMed1996

[Antiaggregant treatment for cerebral ischemia: ticlopidine versus aspirin].

INTRODUCTION: There at present exists marked controversy as to the possible greater efficacy of ticlopidine as opposed to aspirin in brain ischaemia secondary prophylaxis. In our study we compare the efficacy and safety of antiaggregant treatment with ticlopidine as opposed to aspirin in a group of 310 patients admitted to the 'Hospital Mutua de Terrassa' between the years 1990 and 1994. RESULTS: In the group of patients treated with ticlopidine we found a larger number of new cerebrovascular incidents (p = 0.02) and peripheral vascular incidents (p = 0.01). New cerebrovascular incidents were more frequent in males (p = 0.03), in those patients with substantiated infarct (p = 0.02) and in patients with ischaemia in the carotidal region (p = 0.04). On the other hand, the group of patients treated with ticlopidine presented more secondary effects than the group treated with aspirin at the digestive (p < 0.001) and haematologic (p < 0.001) levels. The most frequent digestive secondary effects were diarrhoea (p < 0.001) and hepatopathy (p = 0.02); abnormalities in the leucocyte count were more frequent in patients treated with ticlopidine (p < 0.001), neutropenia being found in 0.8% of cases. CONCLUSION: In the patients we studied ticlopidine was less efficacious than aspirin in the secondary prophylaxis of new vascular incidents (both cerebrovascular and peripheral vascular) and also presented a greater incidence of secondary (digestive and haematological) effects.

Aged↗
PubMed1996

[Voluntary changes of visual evoked potentials in cases with hysteria and/or simulation].

We report a 25-year-old woman with gradual loss of visual acuteness, during puerperium and blindness in fifteen days. Two months latter she remain steady. Visual evoked potentials using monocular checkerboard pattern-reversal, were abnormal. Clinical suspicion of voluntary alteration of VEP was considered. A second VEP exploration with binocular stimulation and maneuvers of distraction were carried out. Normal VEP were recorded. Deliberate alteration of the visual evoked potential should be considered in patients suspicious of hysteria or malingering.

Adult↗
PubMed1994

Indolent anti-Hu-associated paraneoplastic sensory neuropathy.

Paraneoplastic sensory neuropathy (PSN) usually runs a subacute progressive course, leaving the patient with severe sensory dysfunction in weeks to months. We describe five patients with PSN, high titers of anti-Hu antibodies (type 1 antineuronal nuclear autoantibodies), and an indolent clinical course. The patients had a median age of 55 years (range, 41 to 72). Four had small-cell (3) or undifferentiated large-cell (1) lung cancer. Patients presented with mild, asymmetric sensory symptoms; in two, the neuropathy was predominant in the arms. Two patients also had a visceral neuropathy causing gastrointestinal dysfunction. The PSN was stable or progressed very slowly without treatment for a median of 18 months (range, 5 to 32) and remained so after treatment with immunoglobulins (1 patient), chemotherapy (3), or both therapies (1). All patients were ambulatory, leading an independent life up until the time of the last visit or until death from the tumor (2 patients). The median follow-up was 36 months (range, 22 to 52). A paraneoplastic origin should be considered in patients with mild, very slowly progressive sensory neuropathies.

Adult↗
PubMed1994

[Congenital muscular dystrophy: report on 10 cases].

Clinical features in 10 cases (3 males, 7 females) with congenital muscular dystrophy (CMD) are reported. Six patients suffered from pure forms of CMD. Two patients had diffuse cerebral white matter involvement of both hemispheres, demonstrated by computerized tomography and magnetic resonance imaging. Two patients were diagnosed as having Walker-Warburg syndrome on the basis of clinical and neuroradiological findings. The present series of patients further illustrates the heterogeneity of the various entities included under the term CMD even when central nervous system involvement is not suspected.

Biopsy↗
PubMed1993

[Pancoast's syndrome: difficulties in its diagnosis].

We present four patients with pancoast tumor diagnosed between 6 to 13 months after the appearance of symptoms. In three of the patients, the presence of old pulmonary apical fibrous lesions complicated diagnosis by simple radiology. Clinical suspicion of the tumor provided the basis for further complementary explorations which confirmed the apical lesion: TC in two patients and RM in the third. Three patients histological diagnosis was obtained by aspirative transthoracic punction. The late diagnosis resulted in the treatment being purely palliative in three cases. It should be stressed that when presented with persistent shoulder pain, clinicoradiological assessment need to be exhaustive in order to make an early diagnosis.

Adult↗
PubMed1992

Plasmapheresis and antineoplastic treatment in CNS paraneoplastic syndromes with antineuronal autoantibodies.

We retrospectively evaluated the effect of plasmapheresis (PE) in seven patients with paraneoplastic encephalomyelitis (PEM), small-cell lung carcinoma, and anti-Hu antibodies, and four patients with paraneoplastic cerebellar degeneration (PCD), ovarian or breast cancer, and anti-Yo antibodies. In addition to PE, patients received prednisone (nine), cyclophosphamide (eight), or treatment of the tumor (five). All but one patient were severely disabled by the time PE began. The clinical outcome was compared with that of five patients (PEM, four; PCD, one) who only had treatment of the tumor. Only one of these five patients had a severe neurologic deficit at the onset of the antineoplastic treatment. No patient improved. Two patients treated with PE and antineoplastic therapy and three who only received treatment of the tumor remained stable for at least 6 months. Four of the five patients with a stable course started the treatment when the neurologic deficit was not severe. We conclude that the efficacy of PE with other immunosuppressive therapies in the stabilization of the neurologic deficit is uncertain.

Aged↗
PubMed1989

[Nuclear resonance in intracranial venous thrombosis].

We have reviewed the nuclear resonance NR images in three patients with intracranial venous thrombosis. Tomodensitometric findings are not reliable in intracranial venous thrombosis and cerebral angiography is required for the diagnosis. The usefulness of NR for the investigation of venous disease has been recently demonstrated. Ten patients in whom a diagnosis of intracranial venous thrombosis was made with NR have been reported. Initially, the vacuum signal in the T1 enhanced sequences disappears and the thrombus becomes hypointense in the T2 enhanced sequences. In the following phase, proton relaxation is impaired by methemoglobin production and thrombosis appears as hyperintense in both the T1 and T2 enhanced sequences. During the resolution phase, the vacuum signal in the vascular lumen reappears and the hyperintensity of the thrombus signal becomes attenuated. In our study we have shown the different stages of intracranial venous thrombosis with NR. In addition, we have demonstrated the close relation between these images and the clinical evolution. NR is a useful noninvasive investigation in patients with suspected intracranial venous thrombosis.

Aged↗
PubMed1989

Platelet aggregation in transient global amnesia.

We found a correlation between increased platelet aggregation parameters and transient global amnesia and no differences between patients with transient global amnesia and transient ischemic attacks. Our findings support the theory of a vascular mechanism for transient global amnesia.

Amnesia↗