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Biomedical subjects

J J Poza

Publications and source records attributed to J J Poza.

At least 37 records · Page 2Linked to original sources
PubMed1997

[Neuropathy associated with arteriosclerosis].

OBJECTIVE: To determine the frequency and characteristics of the neuropathy associated with arteriosclerosis. MATERIAL AND METHODS: A prospective clinical and electrophysiological study was made of 29 male patients with arteriosclerosis, in whom other causes of polyneuropathy had been excluded. RESULTS: Eleven patients complained of paresthesiae (mostly mild). In 11 patients there were signs of polyneuropathy on clinical examination. Neurophysiological studies were abnormal in 11 patients, suggesting the presence of predominantly sensitive axonal neuropathy. In five patients with paresthesiae both physical examination and electrophysiological studies were normal. In 17 patients there were changes in the somatosensory evoked potentials. The brainstem auditory evoked potentials of 27 patients were suggestive of diffuse changes in central nervous conduction, together with super-imposed focal lesions. There were no differences as regards age, signs of disease in the legs or of the involvement of widespread illness, whether they were smokers, ex-smokers or non-smokers, the number of cigarettes smoked daily or the total duration of the smoking habit between the patients with and without clinical or electrophysiological polyneuropathy. CONCLUSIONS: Approximately one third of the patients with arteriosclerosis have clinical or electrophysiological signs suggestive of predominantly sensitive axonal polyneuropathy. In some cases the patients had paresthesia but no changes were seen on physical or electrophysiological examination. The evoked potentials showed diffuse changes in central nervous conduction, and in some cases this was associated with signs of focal lesions.

Adult↗
PubMed1997

[Peripheral neuropathy associated with chronic obstructive pulmonary disease].

To determine the frequency and characteristics of neuropathy associated with chronic obstructive pulmonary disease (COPD). This prospective clinical and electrophysiological study enrolled 30 COPD patients (28 men and 2 women) in whom other causes of polyneuropathy had been excluded. Six patients reported slight paresthesias. Clinical examination revealed signs that clearly suggested polyneuropathy in 8 patients (27%) whereas signs were non specific in 14. The neurophysiological study was abnormal in 26 patients (87%), suggesting axonal polyneuropathy that was predominantly sensory. The presence of polyneuropathy was related to age, duration of disease and smoking, but not with sex or pO2 or pCO2 on the date of examination. Approximately one third of patients with COPD show clinical or electrophysiological signs that suggest axonal polyneuropathy that is predominantly sensory, with only slight or no clinical symptoms.

Adult↗
PubMed1996

Frequency of intergenerational contractions of the CTG repeats in myotonic dystrophy.

Myotonic dystrophy (MD), an autosomal dominant multisystemic disorder with a high phenotypic variability, is the most common muscular dystrophy in adult life. The mutation underlying DM has been characterized as an expanded CTG trinucleotide repeat sequence in the 3 untranslated region of a protein kinase gene on chromosome 19q13.2-13.3. We have analyzed the presence of CTG intergenerational variations on transmission in parent-child pairs affected with DM. The series includes 90% of all living affected descendants (symptomatic or asymptomatic) from a given myotonic dystrophy (DM) patient. A contraction of the CTG repeat size was observed in ten parent-child pairs (14.1%) and remained unchanged in five (7%) pairs. The number of CTG repeats decreased in 2/30 maternal transmissions (6.7%) and in 8/41 paternal transmissions (19.5%). We found 14 asymptomatic individuals carrying the CTG expansion among the offspring. In six of them, a contraction of the CTG repeat was observed, and in all six cases, the DM allele was paternally transmitted. Since nearly all the asymptomatic family members of DM patients were analyzed in this series, the observed percentage of contractions can be considered more realistic, even though the number of parent-child pairs is small.

Adult↗
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↗
PubMed1996

Peripheral neuropathy associated with polycythemia vera.

The aim of this study was to determine the frequency and characteristics of peripheral neuropathy associated to polycythemia vera. A prospective clinical and electrophysiological study was performed of 28 patients with polycythemia vera. Other causes of neuropathy were excluded. Eleven patients experienced paresthesiae, which were usually mild. In 13 (46%) patients, clinical examination revealed features suggesting polyneuropathy. Nerve conduction indexes were abnormal in 20 (71%) patients, suggesting the presence of a predominantly sensory axonal polyneuropathy. In the somatosensory evoked potentials a delay of the P40 wave was seen in 17 patients, while 11 exhibited a delay of the N20 wave. Three of these patients also showed bilateral increases in the I-III, I-V and III-V intervals of brain-stem evoked potentials. In most cases, the delay was moderate and symmetrical. No differences in sex, age, duration of disease, hematocrit values, or platelet counts were found between patients with or without clinical or electrophysiological polyneuropathy. A high percentage of patients with polycythemia vera present clinical or electrophysiological signs of predominantly sensory axonal polyneuropathy which is probably secondary to ischemia, due to increased blood viscosity and platelet dysfunction.

Adult↗
PubMed1995

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

A molecular analysis of the maternal and child CTG repeat size and intergenerational amplification was performed in order to estimate the risk of having a child with congenital myotonic dystrophy (CMD). In a study of 124 affected mother-child pairs (42 mother-CMD and 82 mother-non-CMD) the mean maternal CTG allele in CMD cases was three times higher (700 repeats) than in non-CMD cases (236 repeats). When the maternal allele was in the 50-300 repeats range, 90% of children were non-CMD. In contrast, when the maternal allele was greater than 300 repeats, 59% inherited the congenital form. Furthermore, the risk of having a CMD child is also related to the intergenerational amplification, which was significantly greater in the mother-CMD pairs than in the mother-non-CMD pairs. Although the risk of giving birth to a CMD child always exists for affected mothers, our data show that such a risk is considerably higher if the maternal allele is greater than 300 repeats.

Adult↗
PubMed1995

Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy.

To analyse the influence of the sex of the transmitting grandparents on the occurrence of the congenital form of myotonic dystrophy (CDM), we have studied complete three generation pedigrees of 49 CDM cases, analysing: (1) the sex distribution in the grandparents' generation, and (2) the intergenerational amplification of the CTG repeat, measured in its absolute and relative values, between grandparents and the mothers of CDM patients and between the latter and their CDM children. The mean relative intergenerational increase in the 32 grandparent-mother pairs was significantly greater than in the 56 mother-CDM pairs (Mann-Whitney U test, p < 0.001). The mean expansion of the grandfathers (103 CTG repeats) was also significantly different from that seen in the grandmothers' group (154 CTG repeats) (Mann-Whitney U test, p < 0.01). This excess of non-manifesting males between the CDM grandparents' generation with a smaller CTG length than the grandmothers could suggest that the premutation has to be transmitted by a male to reach the degree of instability responsible for subsequent intergenerational CTG expansions without size constraints characteristic of the CDM range.

Base Sequence↗
PubMed1995

[Diseases due to instability of DNA].

The catalog of genetic diseases whose mutational mechanisms are based on the expansion of nucleotide triplets includes 8 disorders classified in terms of type of triplet sequence and the mechanism by which the mutation manifests clinically. To date there are 3 groups. The first is made up of several mental retardation syndromes linked to fragility in the X chromosome (FRAXA, FRAXE, FRAXF, FRA16), with CGG type triplets and large growth expansions located close to a CpG island whose methylation determines degree of chromosome fragility as well as the size of expansion. The second group encompasses diseases arising from CAG triplets. Examples are spinal bulbar atrophy, Huntington's chorea (HC), type 1 dominant cerebellar ataxia (DCA1), dentatorubral-pallidoluysian atrophy (DRPLA) and Machado-Joseph's disease. In this group the expansion codes a polyglutamate residue that gives rise to clinical manifestations by way of functional gain. Myotonic dystrophy (MD) remains in a separate group, with large-size expansion but no chromosomal fragility, and clinical manifestations in multiple systems. All entities encompass phenotypic variation or tendency to inter-generational growth of the expanded fragment that triggers the anticipation phenomenon to varying degrees--greater for some diseases (MD) in cases of maternal transmission and for others (DCA1, HC and DRPLA) when transmission is paternal. The mechanisms by which expansions occur is unknown but the decisive element in some entities may be failure to correct errors in DNA duplication and errors in the integrity of the repeated sequence. We review the difficulties inherent in establishing correlations between genotype and phenotype and in providing genetic counseling.

Chromosome Aberrations↗
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↗
PubMed1994

[Corticobasal ganglionic degeneration: a report of 7 clinically diagnosed cases].

We report the clinical characteristics of 7 patients (5 women) from 61 through 84 years of age who were diagnosed within the last 3 years as having corticobasal ganglionic degeneration. The disease begin clinically in all patients with on asymmetric motor syndrome. Four experienced tremulousness and myoclonus in one hand, with apraxia and cortical sensory symptoms, astereognosia and sensory extinction. In 3 others, the progressive motor symptoms was mainly a pyramidal syndrome. Hand apraxia caused severe disability in the affected member and was disproportionate to the degree of motor symptoms suffered by the patient. In 3 patients with right side involvement, language-related difficulties were present; in 2 patients with aphasia, difficulties of articulation were partly caused by bucorespiratory apraxia. We believe that this disease, which is more common than believed, has a highly characteristic clinical profile that often allows its clinical diagnosis.

Aged↗
PubMed1993

[Clinical manifestations of myotonic dystrophy: epidemiologic survey].

BACKGROUND: The presence of a local aggregation of cases of myotonic dystrophy (MD) allows the evaluation of clinical symptoms of the disease in a sample in which the influence of a possible genetic heterogeneity is decreased. METHODS: The degree of global neuromuscular handicap and the incidence and severity of four of the most characteristic symptoms (cataracts, myotonia, muscular weakness and neuropsycologic disturbances) were studied in 183 patients with MD (146 typical adult forms, 19 neonatal, and 18 partial syndromes) in relation with the age of onset of the symptomatology or length of disease. RESULTS: Only 8.3% of the patients (excluding the neonatal forms) were severely handicapped, and the degree of neuromuscular handicap depended fundamentally on the age of onset of the disease. Cataracts and myotonia were present in 87 and 89% of the patients, respectively. Almost all the patients above the age of 40 presented cataracts. No clinical or subclinical evidence of neuromuscular involvement was present in 11% of the patients with MD. These patients principally corresponded to the group in whom the disease initiated over the age of 50. CONCLUSIONS: The age of onset of the symptomatology appears to be the determining factor to establish both the global prognosis of neuromuscular incapacity of patients with myotonic dystrophy and the explanation of the chronology of the appearance of the most characteristic symptoms of the disease. The presence of carriers without neuromuscular symptomatology is of note, this fact reinforcing the need to incorporate DNA examination in the evaluation of asymptomatic relatives or with exclusive ocular symptomatology.

Adolescent↗