Search PubMed⌕ Search

Biomedical subjects

J Berciano

Publications and source records attributed to J Berciano.

At least 217 records · Page 12Linked to original sources
PubMed1982

Olivopontocerebellar atrophy. A review of 117 cases.

Fifty-four cases of familial OPCA (FOPCA) and sixty-three cases of sporadic OPCA (SOPCA) have been gathered from the literature. The data concerning age at onset, duration of the disease, frequency of symptoms and the various localizations of lesions have been evaluated. In comparison with SOPCA, the disease begins earlier in FOPCA and lasts longer (P less than 0.001). The differences in the percentages of clinical manifestations and associated lesions are also significant with regard to the greater frequency in FOPCA of abnormal movements, ophthalmoplegia, spinal symptoms and lesions located in the dentate nucleus and spinal cord, except for the pyramidal tract. The clinical signs and symptoms are reviewed, special emphasis being given to dysphagia and urinary incontinence, their relevance having been underestimated in previous studies. After a critical analysis of the classifications in current use, I conclude that that of Greenfield (1954) remains the most appropriate.

Atrophy↗
PubMed1982

Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency.

A family with familial cerebellar ataxia and hypogonadotropic hypogonadism is described. The condition was inherited as an autosomal recessive defect. CT scan in one case revealed cerebellar and brain stem atrophy. Endocrinological tests showed abnormalities only in two patients who were clinically affected. In both cases raised gonadotropic levels were found after repetitive stimulation with luteining hormone-releasing hormone which suggests that the hypogonadism was due to a primary hypothalamic disturbance.

Adult↗
PubMed1982

Occipitoatlantal instability and vertebrobasilar ischemia: case report.

A 37-year-old woman had occipitoatlantal instability due to hypoplasia of the occipital condyles. Neck pain and transient ischemic attacks in the vertebrobasilar territory occurred with extension of the neck, which also caused convergence spasm. Angiography demonstrated that these manifestations were due to compression of the vertebral arteries during neck extension. Immobilization of the neck in a Minerva cast resulted in complete relief of symptoms.

Adult↗
PubMedDate not supplied

Intravenous lidocaine for status epilepticus.

Intravenous lidocaine successfully controlled convulsive status epilepticus in eight patients. Lidocaine was administered, as a diazepam substitute, to elderly patients with chronic obstructive lung disease and to those patients unresponsive to the stated doses of intravenous diazepam. Although transient disappearance of seizures was noted after an initial dose of 100 mg, infusion of 200 mg was necessary to effectively control status. Continuous lidocaine infusion (3.5 mg/kg/h) was used in one case with good results. Undesirable side effects were not seen. The basic mechanisms for possible anticonvulsant action are reviewed. Lidocaine seems to be an effective and safe drug in convulsive status epilepticus. We suggest that lidocaine may be used as a first-line drug, as a diazepam substitute, in the treatment of convulsive status epilepticus in patients in whom respiratory depression is undesirable and in those who do not respond to intravenous diazepam.

Adult↗
PubMedDate not supplied

Orgasmic epilepsy.

We studied a 41-year-old woman who had nocturnal somatosensory seizures followed by orgasm. The interictal EEG showed discrete left central parietal region paroxysmal activity that markedly increased during sleep. Eight electroclinical seizures were recorded during sleep polygraphic recording. Orgasms occurred coinciding with generalization of paroxysmal activity. No abnormalities were found on serial neurologic examination or computed tomography scan. The attacks were completely controlled with antiepileptic drugs.

Adult↗
PubMedDate not supplied

[From the genetics to the prevention of stroke].

Genetic risk factors implicated in stroke are reviewed. There is evidence that family history of vascular disease is an independent risk factor for stroke. Twin studies demonstrated that there is a genetic component for stroke. I review the possible pathogenetic relevance of several vascular risk factors, namely dyslipoproteinemia, Lp(a), ApoE, homocystein, and prothrombotic states. Finally, I carry out an overview of genetic monogenic disorders manifesting with embolic stroke, thrombotic stroke or hemorrhagic stroke. This review corroborates that there are many genetic risk factors of stroke, though further studies will be necessary to establish whether or not these factors are pathogenetically independent from acquired factors.

Apolipoproteins↗
PubMedDate not supplied

[Buttock mass and malignant sciatic nerve tumor].

Malignant peripheral nerve sheath tumors (MPNST) are rare. We report a case of a MPNST of the proximal sciatic nerve in the thigh, unassociated with pre-existing type 1 neurofibromatosis or history of radiation therapy. A 71-year-old man had a 6 month history of constant, severe, burning pain affecting the sole of the left foot. One month after the onset, the pain radiated to the left calf, posterior aspect of the thigh and buttock, and distal leg weakness followed. Three months prior to admission, the patient developed a large and painful mass in the buttock, that occupied the entire left gluteal region on examination. There was severe weakness of ankle and toe dorsiflexion and plantarflexion, decreased sensation on the lateral and posterior aspect of the left leg as well as on the dorsal and plantar surfaces of the foot, and absent ankle jerk. EMG showed denervation and motor unit loss in the short head of biceps femoris and muscles supplied by tibial and peroneal nerves on the left side. Magnetic resonance imaging revealed a 10-cm enhancing mass of the left sciatic nerve from the upper thigh to the greater sciatic notch. In surgery, a large MPNST with a high Ki67 labeling index (> 60 %) was subtotally removed from the sciatic nerve, and adjuvant radiation therapy was administered. In the ensuing months the tumor invaded the entire pelvic region. A high sciatic malignant tumor can present with a rapidly growing buttock mass and unilateral, neuropathic foot pain imitating the tarsal tunnel syndrome.

Aged↗
PubMedDate not supplied

[Depressive states in multiple sclerosis. Critical bibliographic review].

The aim of this paper is to review the question of depression in patients with multiple sclerosis (MS). Morbidity and methodological difficulties in the investigation of depressive states in MS are analyzed. Prevalence of depression in MS in previous series is critically compared. The role of chronic invalidity and topography of demyelinating lesions in the development of depression are considered. We also review the treatment of depressive states and future guidelines for investigation of this topic.

Brain↗
PubMedDate not supplied

CT findings in spinocerebellar degeneration.

Thirty-five CT scans were studied from patients with several forms of spinocerebellar degeneration. Atrophy was determined by objective measurements of the number and width of cerebellar sulci, transverse diameter and surface area of the fourth ventricle, brainstem ratio, cerebellopontine angle cistern, and Evans' index. Two-thirds of the patients with Friedreich's ataxia showed moderate cerebellar atrophy and an increase in the surface area of the fourth ventricle. Severe cerebellar atrophy and enlargement of the cerebellopontine angle cistern was seen in patients with olivopontocerebellar (OPC) atrophy and idiopathic cortical cerebellar atrophy. In the OPC atrophy group there was also prominent atrophy of the brainstem and an increase in the fourth ventricle parameters. Alcoholic cerebellar degeneration showed a specific pattern of cerebellar atrophy most prominent in the superior vermis, together with a slight increase in the fourth ventricle surface, a reduction in the size of the brainstem, and an enlargement of the cerebellopontine angle cistern. Supratentorial atrophy was present only in the OPC and alcoholic atrophy groups. In one patient with spastic ataxia, CT was normal but MR imaging revealed prominent atrophy of the spinal cord. These CT patterns appear to be distinctive enough to permit the diagnosis and classification of the various forms of spinocerebellar degeneration.

Adolescent↗