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Biomedical subjects

A Mínguez

Publications and source records attributed to A Mínguez.

28 records · Page 2Linked to original sources
PubMedDate not supplied

[Genotype-phenotype correlation in myotonic dystrophy and prediction of clinical seriousness].

INTRODUCTION: Since description of the expansion of the number of CTG trinucleotides on the long arm of chromosome 19 in the 19 q 13.2-13.3 interval as being responsible for myotonic dystrophy (DM), many studies have established a direct relationship between the size of the expansion and the severity of the manifestations. OBJECTIVES: To evaluate the clinico-genetic correlation in a population with DM in Eastern Andalucia and to establish the predictive value of the increase in number of CTG repetitions with regard to clinical gravity. PATIENTS AND METHODS: A transverse study of persons from families known to have members with DM, classified with regard to the clinical gravity of their illness. Diagnosis was by means of clinical neurological, ophthalmological and neurophysiological examination and subsequently by genetico-molecular study, Southern blot, PCR, oligonucleotide CTC hybridization and Northern blot. RESULTS: Genetic studies confirmed the previous clinical diagnosis of DM in 78 persons, of the 145 studied, who came from 32 families. The average size of the mutation was 1-5 kb. There was close correlation between the size of the expansion and the clinical condition. Logistic repression studies permitted adequate classification in function of the size of the expansion in 87.23% of the cases of clinically relevant illness and in 90% of the cases in which the condition was not clinically relevant. CONCLUSIONS: There is a strong association between the clinical features of DM and the magnitude of the mutation. The size of the expansion has considerable predictive value in prognosis of the disorder. This may be useful when making decisions during prenatal diagnosis.

Adolescent↗
PubMedDate not supplied

[Prescription and costs of artificial nutrition before and after a new utilization protocol].

In order to improve the quality of prescription and reduce expenditure, the artificial nutrition department has designed a new usage protocol: justification sheet, table of indications for parenteral nutrition (PN), nutritional assessment, etc. The Pharmacy Department is in charge of the follow-up of this programme and maintaining the database derived from it. Comparing the data for the year before (1996) and after (1998) implementation of this programme, we can see that as a result 9 patients/day switched from total parenteral nutrition by central administration to hypocaloric peripheral nutrition, with the prevalence of the former dropping to 1.4% of admissions and 2% of stays. The share of enteral nutrition (30.6%) and hypocaloric peripheral nutrition (27.8%) increases in the overall expenditure on artificial nutrition, with a reduction in the total parenteral nutrition (41.6%). The costs of parenteral nutrition per admission and stay are reduced by 39.3% and 33.5%, respectively, to 1,625 and 183 pesetas. This represents a saving of 16.5 million pesetas. The expenditure on PN elements declines by two percentage points to 2.2% of pharmaceutical expenditure. As an additional benefit, it is possible to identify each of the clinical situations which give rise to this indication and to allocate costs by diagnosis and department. Together with the containment of expenditure, it has been possible to increase the participation of everyone in the rational use of clinical nutrition thus highlighting its interdisciplinary nature.

Costs and Cost Analysis↗
PubMedDate not supplied

[Lhermitte-Duclos disease associated with tuberous sclerosis. A case report and review of literature].

INTRODUCTION: Lhermitte-Duclos disease is a rare disorder of the cerebellum of unknown origin in which dysplasic thickening of the cerebellar convolutions is seen. It usually occurs in young adults. Currently it is included in the phacomatosis group of disorders. CLINICAL CASE: A 19 year old woman attended the Emergency Department complaining of progressive orthostatic headache for the previous three months. On examination there were striking facial micronodular lesions suggestive of angiofibromas, a hypo-pigmented macula in the inframammary region and a hyperpigmented 'café-au-lait' macula in the right hypochondrium. On computerized tomography there was tetraventricular hydrocephalia. Cerebral magnetic resonance showed significant descent of the tonsils, hypertensive hydrocephalia and a lesion in the left cerebellum, apparently laminar hyperintensity in DP and T2, with thickening of some folia, not enhanced by intravenous contrast and suggestive of a dysplasic gangliocytoma. Laboratory investigations showed subclinical hypothyroidism. Other investigations were normal. The patient was treated by implanting a ventriculo-peritoneal shunt which has relieved the symptoms to date. CONCLUSIONS: Lhermitte-Duclos disease is probably not a single anatomo-clinical condition, assuming that it may be a cerebellar hamartoma associated with a phacomatosis with few clinical signs, whether it be Cowden's disease, tuberous sclerosis as in this case or an 'overlapping' syndrome. The magnetic resonance findings are necessary and sufficient for the diagnosis of Lhermitte-Duclos disease.

Adult↗
PubMedDate not supplied

[Functional surgery of the thalamus in movement disorders].

INTRODUCTION: Functional thalamic surgery as a treatment for movement disorders is half a century old. Although the accumulated experience is wide, their precise indications have varied depending on the available alternative therapies. DEVELOPMENT: In this article the historical evolution, anatomofunctional basis and results of the functional surgery on the motor thalamus are reviewed. Considering new advances in this field, the current indications are proposed. CONCLUSIONS: Nowadays, thalamic surgery is a valuable therapeutic option for patients with different tremor syndromes, when the upper limb tremor is disabling, and satisfactory relief with pharmacological treatment cannot be achieved. It can also be useful in selected patients with ballism and with secondary hemidystonia. When unilateral surgery is considered, both thalamotomy and thalamic stimulation can be acceptably safe and effective procedures in experienced surgical teams. The main advantage of stimulation is its irreversibility, making possible bilateral procedures with a lower morbidity. The objective of surgery should be to improve the patients' functional capacities and quality of life, therefore, the indication and selection of the procedure should be individualized.

Humans↗
PubMedDate not supplied

[Thrombolysis in stroke: inappropriate consideration of the 'window period' as the time available].

AIMS: The earlier r-TPA is administered in ischaemic strokes, the more effective it is. The aim of this study is to analyse the delay times in health care afforded in a consecutive series of cases that had received treatment, with a view to shortening them. PATIENTS AND METHODS: We analysed the medical records of the first patients to be treated in our centre. The paper describes several variables involving demographic and clinical factors, as well as the delay in entering the Emergency department, performing a CAT scan and especially the time elapsed between the CAT scan and starting treatment. We have examined the existence of an inappropriate correlation between delays that should be independent of one another. RESULTS: The mean age of the 17 patients treated was 68 years and they had a stroke severity score of 17 points on the NIHSS. The mean time of delay until arrival, arrival-CAT, and CAT-treatment were slightly under 1 hour each, and onset-treatment delay was 165 minutes, which is very close to the limit of the therapeutic window period. We found a strong inverse linear association between the time elapsed between onset and the CAT scan, and from the latter to the beginning of treatment (Spearman's r: -0.664, p = 0.004). CONCLUSIONS: Findings indicate that in our hospital, as in other centres in the initial phases of implementation, the therapeutic time window for intravenous thrombolysis in ischaemic stroke tends to run out. It must be highlighted that the resolve of the physician who indicates the treatment exerts a decisive effect on the delay.

Adult↗
PubMedDate not supplied

[The value of the internal capsule signs in the stimulation of the subthalamic nucleus in Parkinson's disease].

INTRODUCTION: The effectiveness of stimulating the subthalamic nucleus (DBS-STN) in advanced Parkinson's disease (PD) largely depends on the correct placement of the electrodes. Since the sensory-motor region of the STN lies beside the internal capsule (IC), we believe that the motor effectiveness of DBS-STN could be related to the stimulation threshold in which IC signs appear (IC threshold). PATIENTS AND METHODS: An examination of 17 consecutive patients with advanced PD who had been submitted to bilateral DBS-STN (one case was unilateral) was carried out to determine the motor improvement on each side of the body (n = 33) and the energy consumption one year after surgery according to the IC threshold obtained during the programming. RESULTS: A 45% improvement was observed in the UPDRS III in off and there was a 24% reduction in the equivalent dose of levodopa with bilateral DBS-STN. When the electrodes were considered, there was a statistically significant improvement that depended on the IC threshold. Energy consumption differed significantly between electrodes with an IC threshold of 3-7 V (1.5 +/- 1.2 microW) and those with an IC threshold > 7 V (8.3 +/- 9.4 microW). CONCLUSIONS: During the stimulation phase and following the correct location of the STN, which was achieved by neurophysiological recording, the IC threshold has prognostic implications in medium-long term motor effectiveness and in the consumption of the battery in the generator.

Aged↗
PubMedDate not supplied

[A parametric description of the parenteral nutrition protocols of 19 American hospitals].

In the preparation of a centralized parenteral nutrition unit project in our hospital, following the creation of a multi-disciplinary commission entrusted with the study of this project, we proceeded to evaluate parenteral nutrition protocols of national and foreign hospitals, as a first approach to the subject. This study evaluates and extracts the data we consider most relevant in a sample of 19 American hospitals. With regard to the types of parenteral diet, we observed that most of them (63%) had "standard diets", mainly formulated with 25% glucose and 4.25% crystalline amino acids. None of the protocols studied contained alternatives to glucose as a calorie-contributor, nor were there special formulae for amino acids, although many of them included it in their therapies for use if considered necessary. In all protocols, the contribution of fats was reduced to concrete situations and administered in a different way to the rest of the food in 73% of cases. With regard to additives, despite the existence of standard formulations of electrolytes and vitamins and oligoelements, in 100% of the hospitals studied, there was the possibility of formulating each element separately. Administration was done in several doses per day in 42% of cases and in 100%, using perfusion pumps. The data obtained from this review was of great value in preparing our own parenteral nutrition protocols.

Canada↗
PubMedDate not supplied

[Association of dystrophinopathy with facial-scapular-humeral dystrophy in the same family].

We present the association of a distrophinopathy with a case of facioscupulohumeral dystrophy in two individuals belonging to the same family. The discrepancy in the seric creatinphosphokinase (CPK) of the two patients together with certain clinical data suggests the possibility that it is a question of two different processes. This impression was confirmed later through dystrophine analysis and genetic examination techniques. This case drew attention to the vital need today to insist on a combination of genetic examinations and dystrophine analysis when diagnosing muscular dystrophies, thus avoiding mistakes derived from diagnostic assumptions made on the basis of antecedents in the family involving neuromuscular disorders and the consequences that this might have regarding vital prognosis and advice to the family. This is the first case of coincidental association of these two processes within one family that has so far come to our knowledge.

Antibodies, Monoclonal↗
PubMedDate not supplied

[Four new cases and a review of the literature concerning the migraine with csf pleocytosis syndrome].

The syndrome known as migraine with cerebrospinal fluid (CSF) pleocytosis is a clinical syndrome of controversial pathogenesis characterized by typical migraine headaches occurring in a fixed period of time along with lymphocyte pleocytosis in CSF which persists during intercritical periods. We present four new cases of this syndrome diagnosed in our service and we review those cases published in the literature in which there were no personal headache antecedents, attempting in this way to separate this syndrome from other types of migraine as included in the present classification. There also exists the possibility that it might be a question of a secondary process, the pathogenesis of which may play a part in the activation of the humoral immune system, given the frequent existence of immunogenic antecedents the previous days as well as that of a humoral reaction expressed as an increase in IgG levels in CSF with normal blood electrophoresis.

Humans↗