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Biomedical subjects

B Anciones

Publications and source records attributed to B Anciones.

At least 19 recordsLinked to original sources
PubMed1997

GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.

Phenotypic variants in Friedreich's ataxia include late onset, preservation of the lower limbs tendon reflexes, and slow progression. We describe clinical and electrophysiological features from three families with Friedreichlike phenotypes. Friedreich's ataxia diagnosis was confirmed by finding two allelic expansions of the GAA trinucleotide repeat at the X25 gene. In family 1 both patients had a late-onset phenotype with preservation of knee and ankle jerks, lack of cardiomyopathy, and preserved H reflex. One of them did not have electrophysiologic evidence of sensory axonal neuropathy. Patients from family 2 showed variability in the age of onset, and 2 out of 3 affected children had hyperactive lower limbs reflexes with preserved H reflex. Disease progression in a patient from family 3 was very slow after onset at the age of 21. The finding of two expanded alleles in these families confirms the wide variability of the clinical spectrum of Friedreich's ataxia.

Action Potentials↗
PubMed1994

Adrenergic receptors in the cerebellum of olivopontocerebellar atrophy.

Using autoradiographic techniques we studied the changes that in adrenergic receptors occurred in the cerebellum of two olivopontocerebellar atrophy (OPCA) patients as compared with a control group. In OPCA cerebellum the densities of total beta-adrenoceptors were reduced along the cortex but increased in the white matter. Although mainly the beta 1 subtype was decreased along the cerebellar cortex, the increase of beta-receptors over the white matter was due to a selective raise in the beta 2 subtype. These findings suggest a postsynaptic neuronal location for the beta 1 subtype and a glial location for the beta 2-adrenoceptor. On the other hand, alpha 2-adrenoceptors were clearly reduced all along the cerebellar cortex of these OPCA brains, this probably being secondary to the loss of presynaptic adrenergic terminals arising from the locus coeruleus. These results help clarify both the subcellular location of adrenoceptors in human cerebellum and the neurochemical pathophysiology of OPCA.

Aged↗
PubMed1992

Long-term undiagnosed syphilis with clinical presentation of meningitis.

A 43-year-old woman, with an 11-year history of progressive cutaneous lesions, was considered to have granuloma annulare and was treated as such for 4 years. She then developed chronic meningitis. Serological investigation revealed active syphilis. Appropriate antibiotic treatment led to a rapid resolution of the clinical symptoms. The recent reports of similar cases indicate the importance of an adequate knowledge of clinical manifestations and pathological patterns of syphilis.

Adult↗
PubMed1992

Central motor conduction to upper and lower limbs after magnetic stimulation of the brain and peripheral nerve abnormalities in 20 patients with Friedreich's ataxia.

Central motor conduction time (CMCT) to thenar and soleus muscles was measured after magnetic stimulation of the cortex in 20 cases of Friedreich's ataxia (FA) and was abnormal in all. CMCT values were related to disease duration and disability. The amplitude of CMAP after cortex stimulation was severely reduced in the most disabled patients. Reduction in amplitude of the nerve evoked potentials was related neither to disease duration nor grade of disability. These results suggest that clinical worsening in FA is mainly due to progressive central motor pathway involvement. CMCT study is a better index of disease progression than peripheral nerve examination. Abnormalities in CMCT may be the third electrophysiological diagnostic criterion in FA, after reduced amplitude of nerve action potentials and absent H reflex.

Adult↗
PubMed1992

Intramedullary spinal cord abscess.

We report a patient with a chronic intramedullary spinal cord abscess who suffered an episode of acute meningitis due to rupture of the abscess into the subarachnoid space.

Abscess↗
PubMed1991

Central motor pathways conduction after magnetic stimulation of the brain in Cockayne's syndrome.

Central motor pathways conduction abnormalities after magnetic stimulation of the brain are reported in two siblings with Cockayne's syndrome. Reduced amplitude of the responses with large central conduction time were the main changes. These results are consistent with signs of diffuse white matter hypomyelination found on MRI. Conversely, only mild changes in conduction velocity of the peripheral nerves were found. Central nervous system involvement can be more severe than peripheral neuropathy in Cockayne's syndrome.

Adolescent↗
PubMed1989

[Recurrent Miller-Fisher syndrome associated with brachial neuritis].

The clinical and electrophysiological evolution of a 24-year-old patient with Miller-Fisher's syndrome and findings of mild peripheral neuropathy in the electromyographic study is reported. The patient had been treated six years previously for a similar disease and he recovered in 2 months. During the plasmapheresis therapy of the second episode he developed pain and weakness of the left shoulder girdle, and the EMG was consistent with bilateral brachial neuritis. The disease had improved clinically after 6 weeks, except for supracapsular brachial neuropathy; this territory remained denervated after 3 months of evolution. A diagnosis of Crohn's disease had been made between both episodes. The discussion focuses on the rarity of recurrent forms of Miller-Fisher's syndrome and the association of the reported case with brachial neuritis and Crohn's disease.

Adult↗
PubMed1987

Electrophysiologic follow-up in Whipple's disease.

Neurologic and electrophysiologic findings in a 57-year-old man with Whipple's disease are reported. The patient had severe proximal weakness and weight loss of more than 20 kg. Conventional electromyography and nerve conduction studies suggested mild neuropathy in distal segments of lower limbs and myopathy in proximal muscles. Automatic analysis of the electromyogram in proximal muscles was consistent with myopathy. Conduction velocity of muscle fibers in situ showed low propagation velocity of the impulse. Weakness, weight loss, and all the electrophysiologic parameters improved after treatment, including a compression of the peroneal nerve at the knee, perhaps related to weight loss (slimmer's paralysis).

Body Weight↗
PubMed1985

Electrophysiologic study in benign human botulism type B.

Conventional electromyography (EMG) and single fiber EMG (SFEMG) were performed in a 64-year-old diabetic woman with mild type B botulism. The main clinical signs were autonomic dysfunction and cranial nerves paresis. Conventional EMG was normal, except for small changes that were consistent with mild mixed peripheral neuropathy in the lower limbs and were related to diabetes. Repetitive stimulation and results of single stimulus before and after full effort were normal. SFEMG showed increased jitter and impulse blocking in clinically normal muscles. The jitter was frequency dependent and improved at a higher innervation rate. Impulse blocking in potentials with only slightly increased jitter was found. The follow-up showed improvement of the jitter in agreement with clinical recovery. Jitter abnormalities were recorded after 16 weeks, when clinical signs of botulism had been reversed to normal. Motor unit fiber density increased progressively, and on examination at 8 weeks, some potentials showed very high jitter values. Both findings might suggest new endplate formation, perhaps due to ultraterminal sprouting development.

Botulism↗
PubMed1985

The spectrum of neurological manifestations in myeloma.

Thirty-two patients with myelomatosis (3 with a solitary plasmocytoma and 29 with multiple myeloma) and neurological complications, from a group of 110 unselected patients with myelomatous disease were recorded. Spinal cord compression was the most frequent complication seen in 12 cases. In 9 subjects, it was the presenting symptom, and in 11 cases was caused by extradural plasmocytoma of the thoracic spine. Early decompressive laminectomy was curative in 3 cases, but in the rest, delay in diagnosis resulted in only partial recovery even with radiotherapy. Of the 6 patients with nerve root involvement, radiotherapy led to full recovery in 2 of 3 cases, and laminectomy resulted in complete improvement in 2 other cases. Peripheral polyneuropathy was seen in 8 cases, 2 related to systemic amyloidosis and 6 unassociated with amyloidosis. Both forms of neuropathy shared a slow progression, independent of the course of the myeloma. Acute encephalopathy, found in 6 cases, was due to hypercalcemia and/or serum hyperviscosity, and led to a significant shortening of mean survival. One patient had third cranial nerve palsy due to the overlying lesion of the skull base, and another suffered acute bacterial meningitis.

Aged↗