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Biomedical subjects

J F Martí Massó

Publications and source records attributed to J F Martí Massó.

At least 19 recordsLinked to original sources
PubMed2006

[Total dream loss secondary to left temporo-occipital brain injury].

INTRODUCTION: Recently the case of a woman who reported cessation of dreaming after a bilateral PCA stroke but without REM sleep loss has been reported, suggesting that deep bilateral occipital lobe damage including the right inferior lingual gyrus may represent the "minimal lesion extension" necessary for dream loss. CASE REPORT: We report the case of a 24-year-old man who ceased dreaming after a unilateral left temporo- occipital hematoma. The polysomnographic characteristics in rapid eyes movements (REM) sleep were otherwise normal. CONCLUSION: Our patient demonstrates that a unilateral left temporo-occipital injury could be sufficient for losing dreams.

Brain Injuries↗
PubMed2005

[Analysis of gait and movement of upper limbs in muscular dystrophies].

INTRODUCTION: The objective is to analyze gait and upper extremity movement in a sample of healthy individuals and patients with different muscular dystrophies and to determine the relationship of the obtained variables with the pattern of muscular involvement. SUBJECTS AND METHODS: Gait and upper limb movement was analyzed with a three-dimensional photogrammetry system. Convenience sample of 28 healthy volunteers, 40 patients with myotonic dystrophy (MD), 9 patients with facioscapulohumeral dystrophy (FSHD) and 14 patients with limb-girdle muscular dystrophy type 2A (LGMD2A). Spatio-temporal and kinematic variables were analyzed. RESULTS: Patients had lower velocity, cadence and shorter stride duration than healthy subjects. Gait and upper extremity kinematic variables suggested proximal muscular involvement in LGMD2A patients and distal muscular abnormalities in MD patients. The most characteristic finding in FSHD patients was related with dorsiflexor muscles' weakness. Some of the variables were also correlated to the patients' functional stage. CONCLUSIONS: This analysis allows the distinction of kinematic and spatio-temporal patterns of gait and upper extremity movement that correlate with muscular dystrophy's phenotype. The use of this analysis in the clinical setting to assess disease progression or the potential effects of treatments requires further studies.

Adult↗
PubMed2004

[Trimetazidine-induced parkinsonism].

Eight patients, six women and two men, ages between 72 and 94 years (mean age 80), suffered from parkinsonism while taking trimetazidine, seven of them for a 6 to 12 months time period and the other for 9 years. The parkinsonism reverted after drug withdrawal. This is the first report of trimetazidine induced parkinsonism. It is important to know this side effect in order to avoid its administration to patients with any parkinsonism, especially those suffering dementia with Lewy bodies.

Aged↗
PubMed2000

[Sleep apnea syndrome and cerebral infarction].

OBJECTIVES: To analyze the relationship between snoring and sleep apnea with brain infarction. METHODS: We studied 79 consecutive patients of both sexes with cerebral infarction and 248 age and sex matched controls. We obtained data reflecting arterial hypertension, diabetes mellitus, hypercholesterolemia, smoking and drinking habits, coronary heart disease, cardiopathy, snoring, respiratory pauses during sleep and daytime sleepiness, by using a standard questionnaire to interview every subject and his/her spouse. RESULTS: 53% of patients and 46% of controls snored often or always (p = 0.27). Snoring was significantly more frequent in men. Thirty four percent of patients and 27% of controls were snorers and suffered apnea during sleep (p = 0.19). Nineteen per cent of patients and 11% of controls presented snoring, respiratory pauses during sleep and daytime sleepiness simultaneously, suggesting obstructive sleep apnea syndrome (OSAS) (p = 0.06). However, by separately analyzing people younger than 65 years, the frequency of OSAS was significantly higher in patients (29%) than in controls (7%) (p = 0.006). Finally, 10% of patients and 3% of controls presented snoring, respiratory pauses during sleep and moderate or severe daytime sleepiness simultaneously, suggesting moderate-severe OSAS (p = 0.01). A multiple logistic regression analysis confirmed the independent contribution of moderate-severe OSAS as a risk factor for ischemic stroke, with an adjusted odds ratio of 4.54. In people younger than 65 years, OSAS, regardless of its severity, was also an independent risk factor for ischemic stroke, with an adjusted odds ratio of 5.78. CONCLUSIONS: Clinically diagnosed obstructive sleep apnea syndrome is an independent risk factor for ischemic stroke, especially in people younger than 65 years.

Adult↗
PubMed2000

[Dementia with Lewy bodies].

Dementia with Lewy bodies (DLB) is the second most frequent cause of primary degenerative dementias, following Alzheimer's disease (AD). The nosologic situation of this disease has fragile limits. There is controversy as to whether Parkinson's disease (PD) and DLB are two different entities or whether they make up part of the same spectrum. The terms diffuse Lewy bodies disease and the variant of Lewy bodies in senile dementia or AD have been used to describe pathologic changes with clinical manifestations of dementia and parkinsonism. At present, DLB should be understood as an entity with the essential feature being the presence of Lewy bodies in the brain stem and cerebral cortex. From the point of view of clinical examination, DLB is characterized by the presence of subcortical or progressive cortical dementia, at times without severe memory disorders, with great fluctuations and well detailed recurrent visual hallucinations. These cognitive alterations are associated with parkinsonism. Other frequent disorders are falls, syncopes, transitory alterations in consciousness, great sensitivity to neuroleptic drugs and visual illusions with pseudoperception. The correct diagnosis of this entity is important to administer adequate treatment, to avoid classical neuroleptic drugs and to establish precise prognosis. From a therapeutic point of view, cholinesterase inhibitors show some efficacy in the treatment of cognitive alterations.

Aged↗
PubMed1999

Marchiafava-Bignami disease with widespread extracallosal lesions and favourable course.

We report a 61-year-old alcoholic man who presented with subacute physical deterioration and severe dysarthria. MRI, suggestive of corpus callosum demyelination with associated white matter involvement in both cerebral hemispheres, indicated the diagnosis of Marchiafava-Bignami disease. During his stay in hospital the patient showed remarkable improvement, and was discharged 22 days after admission. On MRI 2 months later, the extracallosal lesions had disappeared. This case raises questions about some previous ideas on this disease, such as the prognosis of its acute forms and the significance of the extracallosal lesions seen on neuroimaging.

Alcoholism↗
PubMed1998

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

The concept of limb-girdle muscular dystrophy (LGMD) is changing rapidly due to the advances in molecular genetics. Recently, seven different gene loci have been described, demonstrating that limb-girdle muscular dystrophy is a heterogeneous syndrome, which includes different diseases with a similar phenotype. In isolated populations which have little genetic exchange with neighbouring populations, an accumulation of cases may be found. We carried out an epidemiological study in Guipúzcoa, a small mountainous Basque province in northern Spain, and found the highest prevalence rate of LGMD described so far: 69 per million. Genetic studies demonstrated that 38 cases corresponded to the LGMD2A type, due to calpain-3 gene mutations. Only one patient with alpha-sarcoglycanopathy was found, and in 12 patients the genetic defect was not identified. Moreover, the particular calpain-3 mutation predominant in Basque chromosomes (exon 22, 2362AG-->TCATCT), has only been rarely found in the rest of the world. This observation strongly suggests a founder effect in the indigenous population of Guipúzcoa. The clinical characteristics of the patients with calpain-3 gene mutations were quite homogeneous and different from the other groups (sarcoglycanopathy and unknown gene defect), allowing for a precise clinical diagnostic. The disease onset was between the ages of 8 and 15 years, in most cases in the pelvic girdle, and the patients became wheelchair-bound between 11 and 28 years after onset. No pseudohypertrophy of calves or contractures were observed. No clear correlations were found between the nature and site of the mutation and the resulting phenotype.

Adult↗
PubMed1997

[Spontaneous intravascular rupture of a giant neuroepithelial cyst].

We report the case of a woman presenting with a gait disorder. Magnetic resonance the brain showed a large parieto-neuroepithelial cyst. Surgery was ruled out and a new image taken nearly two years later showed the cyst cavity had collapsed spontaneously. The benign course of this type of lesion and the possibility of spontaneous recurrence suggest that a wait-and-see attitude can be chosen over surgery in patients with few clinical manifestations.

Cerebral Ventricles↗
PubMed1996

Frequency of myotonic dystrophy gene carriers in cataract patients.

DNA samples from 231 unselected patients with cataracts were studied to determine the frequency of the DM mutation in cataract patients. A previous epidemiological study established a high prevalence of DM in the population of Guipúzcoa (Basque Country, Spain), 26.5 cases/100,000. We have found two carriers (0.9%) of the DM mutation in patients who are not related to any previously known DM family. The screening of the DM mutation in cataract patients should be restricted to young patients or people with multicoloured and iridescent opacities, in which the risk of carrying the DM premutation could be higher. Our results suggest that subjects with 38 to 80 repeats could constitute the genetic reservoir of the DM mutation.

Adult↗
PubMed1996

[Drug treatment of frequent disorders in patients with Parkinson's disease].

The patient with Parkinson's disease often needs concomitant treatment for disorders that accompany the disease, such as depression, insomnia or constipation, or for frequent concomitant alterations such as dizziness, high blood pressure or heart disease. The many drugs that can worsen motor symptoms in Parkinson's disease must be avoided, especially if use will be prolonged. Not all drugs that induce or aggravate parkinsonism have the same potency. We describe 3 groups: 1) drugs that invariably induce or aggravate parkinsonism if taken long enough or at high enough doses; 2) drugs that only provoke parkinsonism in some individuals, and 3) drugs that interfere with the action of levodopa. Knowledge of these drugs is essential for all doctors who treat patients with Parkinson's disease.

Anticonvulsants↗
PubMed1996

[Drug-induced or aggravated parkinsonism: clinical signs and the changing pattern of implicated drugs].

To determine the prevalence, clinical signs and course of drug-induced Parkinsonism (DIP) in a general neurology practice, as well as to study the changing pattern of drugs implicated. Retrospective study of DIP patients seen between January 1981 and December 1993. Of the 306 cases of parkinsonism seen, 56.8% were induced or aggravated by drugs. This side effects is more frequent in women and often occurs in old age. The drugs implicated most often were cinnarizine, sulpiride and flupentixol. Forty-two patients took 2 drugs simultaneously, whereas 6 took 3. The number of DIP seen increased after 1986 and then remained stable through 1993. Between 1981 and 1988, the drug most often implicated was cinnarizine, though its relative impact decreased in later years. The most frequently seen form of presentation was rigidakinetic syndrome. Neither drug nor age influenced clinical presentation. Parkinsonism disappeared completely within a mean of 5 months in 142 (82%) patients. Twenty-eight (16%) developed Parkinson's disease. Six of them were symptom-free for 12 to 72 months (mean 40 months), whereas 22 never experienced relief from parkinsonism. Sixteen suffered tardive dyskinesia, a complication that was not associated with the use of any particular drug. More than half of the cases of parkinsonism seen in a neurology practice are drug induced or aggravated, generally by psychotropic drugs. The frequency has held steady for the past 6 years. The drugs implicated change as knowledge of their inducement of parkinsonism becomes known. The clinical picture is usually reversible.

Adult↗
PubMed1994

Tardive akathisia due to sulpiride.

A 56 year-old woman who suffered from parkinsonism, oro-lingual dyskinesia (OLD) and tardive akathisia (TA) due to sulpiride is reported. OLD and TA appeared after sulpiride withdrawal. The patient was successfully treated with tetrabenazine even a mild parkinsonism was present. TA seems to be related with an apparent dopaminergic hyperactivity and it has to be differentiated of other neuroleptic-induced movement disorders such as restless legs syndrome in order of an appropriate treatment. Sulpiride has the same possible side effects than classic neuroleptics.

Akathisia, Drug-Induced↗