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Biomedical subjects

J Berciano

Publications and source records attributed to J Berciano.

At least 163 records · Page 9Linked to original sources
PubMed1990

Prevalence of primary Sjögren's syndrome in patients with multiple sclerosis.

Sixty-four consecutive patients with clinically or laboratory-supported definite multiple sclerosis (MS) were evaluated prospectively for evidence of primary Sjögren's syndrome (SS). This diagnosis was established when a patient had objective keratoconjunctivitis sicca, xerostomia, or both together with positive labial salivary gland biopsy. We found 2 patients (3.1%) with clinical evidence of primary SS. Whether this association is fortuitous or whether there is pathogenetic linkage between MS and primary SS remains to be established.

Adult↗
PubMed1990

Creutzfeldt-Jakob disease with severe involvement of cerebral white matter and cerebellum.

We describe a patient with Creutzfeldt-Jakob disease (CJD) of the ataxic and panencephalopathic type. Postmortem examination revealed the characteristic lesions of CJD in the grey matter and profound white matter involvement was seen with immunocytochemical techniques. Ultrastructural white matter lesions were identical to those described in experimentally transmitted CJD. There was marked loss of cerebellar granule cells with virtual disappearance of parallel fibres, but Purkinje cells were only slightly reduced. Electron microscopic studies revealed extensive degenerative changes including cytoplasmic vacuoles in both cell types. Silver methods disclosed massive impregnation of white matter and striking abnormalities of Purkinje cells consisting of hypertrophy and flattening of thick dendritic branches, reduction in the number of terminal branchlets, segmentary loss of spines and polymorphic spines. These findings show the extensive involvement of all three cerebellar cortical layers and the reactive plasticity of Purkinje cells to deafferentiation. They favour the hypothesis that demyelination represents a primary lesion of the white matter.

Brain↗
PubMed1990

Basichondrocranium anomalies in adult Chiari type I malformation: a morphometric study.

The purpose of this study was to determine the frequency of anomalies of the basichondrocranium in a series of 42 patients with Chiari type I malformation compared with a control group of 46 subjects. Sixteen patients also had syringomyelia. Linear, angular and posterior fossa surface area measurements were taken on conventional lateral skull x-rays. Posterior fossa volume was estimated by CT scanning. In patients there was shortening of clivus length, Twining-opisthion distance and Chamberlain's line. Basal and Boogard angles were enlarged. The size of the posterior fossa was smaller in patients than in controls. Only 10 (23.8%) patients had no evidence of occipital dysplasia. When discriminant analysis was applied to the data, the most discriminative variables were posterior fossa area and clivus length which allowed accurate identification of 76% of patients as belonging to the patient group and 79% of controls as belonging to the control group. These findings prove that under-development of the basichondrocranium with a small size of the posterior fossa is an outstanding feature in adult Chiari type I malformation, and support the hypothesis that tonsillar ectopia is secondary to the disproportion between the posterior fossa and the cerebellum, which is forced to grow into the cervical spinal canal.

Adult↗
PubMed1990

Serious migraine: a study of some epidemiological aspects.

Data are scant concerning some epidemiological aspects of those severe headaches which cause serious personal and economic morbidity. Our purpose was to study the incidence and other epidemiological features of patients suffering from severe migraine exacerbations, in an unselected population. The 64 patients who suffered from severe migraine bouts represented 10.5% of all the new walk-in neurological consultations in the area covered in this study. 70% of these patients were between 10 and 39 years old. Although females clearly predominated in all ages after fifteen, below this age there was a slight male predominance. The calculated incidence of serious migraine exacerbations was 90 per 100,000 people per year, the corrected incidence for females being 143/100,000 and for males 37/100,000. The highest incidence for females was in 15-19 year-olds (377/100,000) and for males in 10-14 year-olds (166/100,000). Our data seem to confirm the periodic nature of this condition since in 80% of patients the migraine bouts (ie: groups of attacks) lasted between two and nine months. Also they support the reported existence of genetic and hormonal factors in the susceptibility to migraine exacerbations. Our results may help in planning the public health aspect of migraine and add some light to the natural history of this common condition.

Adolescent↗
PubMed1990

Assessment of the hypothalamic-pituitary-adrenal axis function after corticosteroid therapy for MS relapses.

Doses of corticosteroids usually given for relapses of MS are able to suppress the hypothalamic-pituitary-adrenal (HPA) axis. We evaluated HPA axis function using rapid ACTH stimulation and rapid overnight metyrapone tests, just after cessation of regular oral prednisone therapy for relapses in 14 MS patients. Nine additional patients treated with i.v. boluses of methylprednisolone before beginning conventional oral therapy were also evaluated. Sixteen patients had normal response to both tests and 6 patients had only a discordant response to one test. These data indicate that most patients had normal HPA axis function, which make corticosteroid replacement unnecessary after cessation of therapy for relapses.

Adolescent↗
PubMed1990

Linkage of hereditary motor and sensory neuropathy type I to the pericentromeric region of chromosome 17.

Vance et al. have reported linkage of hereditary motor and sensory neuropathy type I (HMSN I) to the pericentromeric region of chromosome 17. We have studied eight families with HMSN I (also called the hypertrophic form of Charcot-Marie-Tooth disease) for linkage of the disease locus to polymorphic loci in the centromeric region of chromosome 17. Linkage has been confirmed for D17S58 (EW301) with a maximum lod score of 5.89 at theta = 0.08 and for D17S71 (pA10-41) with a maximum lod score of 3.22 at theta = 0.08. EW301 is on 17p, 5.5 centimorgans from the centromere. Two families, previously reported as being linked to the Duffy blood group locus on chromosome 1, were included in this study, and one now provides positive lod scores for chromosome 17 markers. There was no evidence of heterogeneity.

Charcot-Marie-Tooth Disease↗
PubMed1989

Spanish toxic oil syndrome neuropathy in three patients with hereditary motor and sensory neuropathy type I.

We describe three patients with hereditary motor and sensory neuropathy type I coming from a family who suffered from Spanish toxic oil syndrome with neuromuscular manifestations. Their clinical course neither differed from other kin only affected with the inherited neuropathy nor from other patients with Spanish toxic oil syndrome studied by us. These findings suggest that patients with hereditary motor and sensory neuropathy do not exhibit a special susceptibility to vasculitic neuropathy associated with Spanish toxic oil syndrome.

Adolescent↗
PubMed1989

The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I.

One hundred and thirty two individuals at risk for hereditary motor and sensory neuropathy (HMSN) type I from 11 unrelated families were evaluated by physical examination. Motor conduction velocity (MCV) studies of median and/or peroneal nerves were performed on 99 of them. Seventy-three subjects were found to be affected. In all age categories including the first decade of life, the ratio of affected individuals at risk did not significantly differ from the expected 1:1 ratio; that is, penetrance of the gene was complete. The majority of affected members in the first decade had no clinical features considered diagnostic of peroneal muscular atrophy syndrome, and full clinical expression developed in the second decade. Marked slowing of MCV was already present in the early years of life, even as young as 6 months. Moreover serial MCV studies carried out throughout the first year of life in an affected girl showed no physiological increase in conduction velocity. For purposes of genetic counseling, our experience suggests that, starting from 6 months of age, a clinically and electrophysiologically normal subject has a zero risk of having inherited the HMSN type I gene. However given the limited numbers in this series, infants at risk with normal clinical evaluation and MCVs should be followed up yearly up to 5 years of age.

Adolescent↗
PubMed1989

Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers.

Although one large family with hereditary motor and sensory neuropathy (HMSN) type I that showed linkage to the Duffy blood group (FY) on chromosome 1 has previously been reported, we have failed to find evidence for such linkage after examining 14 markers from chromosome 1 in 12 pedigrees. We have excluded linkage between HMSN I and FY up to theta = 0.15 (lod = -3.01) and also between HMSN I and markers flanking FY; amylase (AMY), polymorphic urinary mucin (PUM), serum amyloid protein (APCS), and alpha-spectrin (SPTA). We have excluded HMSN I from 70 cM around this linkage group. Other markers examined were MS1, oncogene L-myc (MYCL), beta-subunit of nerve growth factor (NGFB), oncogene N-ras (NRAS), glucocerebrosidase (GBA), apolipoprotein AII (APOA2), antithrombin III (AT3), renin (REN), and MS32. These cover both the long and the short arms of chromosome 1 in addition to the centromeric region and yielded no evidence of linkage to HMSN I. Two-point lod scores between these markers are also presented. It is possible that there are two or more loci for HMSN I and it will be necessary to obtain significant lod scores from individual families to resolve this issue. This is increasingly possible now that hypervariable genetic markers such as PUM are available.

Chromosome Mapping↗
PubMed1989

The dose of propranolol for migraine prophylaxis. Efficacy of low doses.

Although propranolol is still the drug of first choice for migraine prophylaxis, the optimal antimigraine dose of this drug is still unknown. The main aim of our study is to clarify this point. Fifty-three patients suffering from severe migraine attacks were given propranolol at low doses, close to or up to 1 mg/kg body weight daily, for one month. If the patient responded, then treatment was maintained unchanged for a further two months. If the patient did not respond, propranolol was progressively increased until control was obtained. Thirty-nine (73.5%) patients responded to low doses, and 7 of the 17 patients whose dose had been increased, because of poor or absent response, showed improvement. Five patients did not finish the study because of intolerable side effects, which intensified as the dose was increased. Tolerance was not noticed. In addition to confirming the well-known utility of propranolol in migraine prophylaxis, our results show that low doses are effective in controlling serious migraine bouts in many patients. Fewer than a third of patients will need higher doses in controlling migraine attacks.

Adolescent↗
PubMed1989

Failure of mexiletine to control trigeminal neuralgia.

The analgesic effects of lidocaine and tocainide on trigeminal neuralgia have been established. However, both drugs are unpractical: lidocaine can only be used intravenously, and tocainide may exhibit serious haematological side effects. Mexiletine, a structural analogue of lidocaine that can be safely administered by the oral route, was given, as the sole drug, to four patients with active trigeminal neuralgia. After at least seven days on mexiletine they had no clear benefit. The four patients subsequently improved with carbamazepine or phenytoin. Our observations suggest that mexiletine alone is not of value in trigeminal neuralgia.

Adult↗
PubMed1989

[Occipital condyle syndrome: presentation of a case].

We present the clinical features and radiologic findings of a patient with the so-called occipital condyle syndrome (OCS). This clinical picture is originated by the selective metastasization of one of the condyles of the occipital bone. As it was shown in our case, this syndrome may be the presenting feature of a systemic neoplasm. The occipital condyle syndrome must be suspected in front of any patient with the binomial intense unilateral occipital pain that exacerbates with palpation and turning the neck and ipsilateral hemilingual paralysis. We briefly discuss the differential diagnosis of this condition. As conventional radiologic studies may show no abnormalities, plain X-ray examination and computed tomography must selectively study the region of the foramen magnum. The importance of the diagnosis is beyond academic interest; early radiotherapy, as it was the case of our patient, may lead to a substantial symptomatic improvement.

Aged↗