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Biomedical subjects

E Alonso

Publications and source records attributed to E Alonso.

At least 19 recordsLinked to original sources
PubMed1997

Neuropsychological changes in subjects at risk of inheriting Alzheimer's disease.

Subjects from four Mexican families at risk of inheriting Alzheimer's disease (AD) were studied using a complete neuropsychological battery. These tests were repeated and compared 1 year later. Some of the experimental subjects belong to an international protocol on molecular chromosomal study. A control group matched in age and schooling was included. The subjects at risk underwent a complete physical, neurological and neuropsychological assessment. A neuropsychological battery of cognitive domains designed for the the study of dementia syndromes was administered to all subjects. Six of the subjects showed abnormal performance in cognitive functions, memory, visuospatial functions or language which persisted 1 year later. The present work describes the initial findings of a long-term prospective study aimed at delineating the neuropsychological profile of subjects at risk and to validate subtle abnormalities which in some cases could be the incipient changes of AD.

Adult↗
PubMed1997

Counselling following diagnosis of a fetal abnormality: comparison of different clinical specialists in Mexico.

Most geneticists agree that counselling should be nondirective, and studies report that genetic counselling by geneticists is performed largely in a neutral style. However, couples at risk of having a child with a genetic condition may seek the advice of other physicians. The purpose of the present study was to describe the answers of four groups of specialists from Mexico City (internists, pediatricians, obstetricians, and neurologists) regarding how they would counsel a couple when prenatal diagnosis has shown that a fetus is affected by one of 17 different genetic disorders and to analyze the role of several variables in the development of their opinion. Our results show that physicians in these specialties are more likely to counsel directively than neutrally. Other variables did not influence the directiveness. With respect to direction of influence, internists, pediatricians, and neurologists are more likely to counsel terminating affected pregnancies than are obstetricians (P = 0.0002). Similarly, clinicians older than 37 years of age and those reporting that religion is not important to them counsel terminating affected pregnancies (P = 0.005 and P = 0.003, respectively). Physicians' gender and clinical experience with genetic diseases did not show statistically significant differences. Strong consensus among specialists was reached only on terminating pregnancies in anencephaly. A lowered and moderate consensus (51-75% agreement) was reached on continuing pregnancies with cleft lip and plate. A moderate measure of consensus for nondirective counselling was found among obstetricians regarding 14 of the 17 diseases in the study, whereas neurologists expressed a moderate measure of consensus on counselling the termination of pregnancies when the fetus was affected by neurological disorders. Hence, the approach to counselling was related in part to the fetal condition and in part to the clinician's specialty and age and the self-reported importance of religion. The data presented herein may not be representative of all Mexican physicians within the selected specialties; however, it is important to gather their opinions because they are involved in the care and treatment of genetic diseases and may have an important influence on the demand and availability of prenatal diagnosis and abortion.

Abortion, Induced↗
PubMed1997

Attitudes of Mexican physicians toward induced abortion.

The objective of this study was to analyze physicians' attitudes towards induced abortion with normal fetuses and fetuses known to have an abnormality in various degrees. A total of 193 physicians (internists, pediatricians, gynecologists and neurologists) answered a self-administered questionnaire. The questions were about voluntary abortion; voluntary abortion with malformed fetus; abortion because the fetus has anencephaly; and two questions were asked for the use of prenatal diagnosis and abortion in case of the fetus being the physician's child. The majority of physicians were male, over 35 years, religious and did not have experience with genetic diseases. Few physicians approved abortion of a normal pregnancy, 6 out of 10 agreed if the fetus was malformed, and this number increased to 8 or 9 out of 10 in cases of severe or lethal genetic disease. Gynecologists and neurologists were less in agreement with abortion when pregnancy is normal than the internists and pediatricians (7% vs. 20%). In general the physicians did not have consistent answers. Agreement for abortion was influenced by religious values.

Abortion, Induced↗
PubMed1997

Chorea-acanthocytosis: genetic linkage to chromosome 9q21.

Chorea-acanthocytosis (CHAC) is a rare autosomal recessive disorder characterized by progressive neurodegeneration and unusual red-cell morphology (acanthocytosis), with onset in the third to fifth decade of life. Neurological impairment with acanthocytosis (neuroacanthocytosis) also is seen in abetalipoproteinemia and X-linked McLeod syndrome. Whereas the molecular etiology of McLeod syndrome has been defined (Ho et al. 1994), that of CHAC is still unknown. In the absence of cytogenetic rearrangements, we initiated a genomewide scan for linkage in 11 families, segregating for CHAC, who are of diverse geographical origin. We report here that the disease is linked, in all families, to a 6-cM region of chromosome 9q21 that is flanked by the recombinant markers GATA89a11 and D9S1843. A maximum two-point LOD score of 7.1 (theta = .00) for D9S1867 was achieved, and the linked region has been confirmed by homozygosity-by-descent, in offspring from inbred families. These findings provide strong evidence for the involvement of a single locus for CHAC and are the first step in positional cloning of the disease gene.

Acanthocytes↗
PubMed1997

Evaluation of scolicidal agents in an experimental hydatid disease model.

INTRODUCTION: The treatment of hydatid disease is largely surgical, with medical treatment being reserved as coadjuvant treatment. The scolicidal agents have been, and are being used mainly during surgical manipulation of the cysts, with the object of avoiding relapses and peritoneal dissemination. OBJECTIVE: Evaluation of the scolicidal agents used in surgery in a hydatid disease model in the mouse. MATERIAL AND METHODS: We have used 85 Swiss OF1 mice, weighing more than 30 g, of 90 +/- 10 days of age, in which a picture of hydatid sowing was reproduced by means of intra-peritoneal inoculation with 0.2 ml of a suspension which contained approximately 1,200 viable protoscolex of Echinococcus granulosus which came from the livers of parasite-infested sheep. 24 h after the inoculation, the mice were subjected to a median laparotomy for the introduction of 1 ml of the scolicidal solution to be evaluated: physiologic saline (n = 10); 10% povidone iodine (n = 15); praziquantel (n = 15); 10% hydrogen peroxide (n = 15); 10% hypertonic saline (n = 15); simulated operation (n = 15). After 7 months of follow-up, the mice were sacrificed and the following was evaluated: number of isolated cysts, cyst masses, and total cysts. RESULTS: The number of isolated cysts which developed was significantly lower in the hydrogen peroxide group (tF 2.14 < RC 3.29). The number of cyst masses was significantly reduced in the hydrogen peroxide group (tF 2.14 < RC 2.18), in the povidone iodine group (tF 2.17 < RC 3), and in the hypertonic saline group (tF 2.11 < RC 2.77). The total number of cysts which developed decreased significantly in the hydrogen peroxide (tF 2.14 < RC 2.84) and the povidone iodine (tF 2.17 < RC 3.79) groups. CONCLUSIONS: Hydrogen peroxide and povidone iodine show a greater protoscolicidal effect than simple cleansing with physiological saline, hypertonic saline, or praziquantel.

Animals↗
PubMed1996

Oligoblastic leukaemia with (8;21) translocation and haemophagocytic syndrome and granulocytic cannibalism.

We report a 47-year-old man with oligoblastic leukaemia (8;21) translocation, phenomenon of cannibalism by granulocytic cells and haemophagocytic syndrome. The patient responded to intensive chemotherapy with disappearance of haemophagocytosis, granulocytic and histiocytic. We conclude that: (1) granulocytic cannibalism and haemophagocytic syndrome can be unusual myelodysplastic features; (2) the oligoblastic leukaemia with presence of cytogenetic abnormalities related to AML in young patients are probably more close to acute leukaemia than to myelodysplastic syndrome.

Chromosomes, Human, Pair 21↗
PubMed1996

Effects of S-adenosylmethionine on lipid peroxidation and liver fibrogenesis in carbon tetrachloride-induced cirrhosis.

BACKGROUND/AIM: The aim of this study was to investigate the effects of S-adenosylmethionine on liver peroxidation and liver fibrogenesis in carbon tetrachloride-induced cirrhosis. METHODS: Cirrhosis was induced in three groups of six rats by repeated injections of carbon tetrachloride over 9 weeks. One group of animals was treated only with carbon tetrachloride, and the other two received carbon tetrachloride plus S-adenosylmethionine (10 mg/kg intramuscularly daily) from week 3 to week 9, and from week 6 to week 9 of the study, respectively. Two additional groups of six rats, a control group and a group treated only with S-adenosylmethionine, were also studied. Glutathione concentration, thiobarbituric acid-reactive substances, collagen content, prolyl hydroxylase activity, and procollagen type I mRNA expression were determined in liver samples. RESULTS: All carbon tetrachloride-treated rats had cirrhosis at the end of the study. Cirrhosis was also present in five of the six carbon tetrachloride-treated rats receiving S-adenosylmethionine for 3 weeks, but in only one of the six rats that received S-adenosylmethionine for 6 weeks. Hepatic glutathione was significantly diminished in carbon tetrachloride-treated rats (2.7 +/- 0.3 mumol/g tissue) and returned to normal in rats receiving S-adenosylmethionine for 3 or 6 weeks (3.7 +/- 0.13 and 3.9 +/- 0.11 mumol/g tissue, respectively). The hepatic thiobarbituric acid-reactive substances were significantly lower in rats treated with carbon tetrachloride and S-adenosylmethionine for 6 weeks (98 +/- 5 nmol/g) than in rats treated with carbon tetrachloride (134 +/- 12 nmol/g) and in those treated with carbon tetrachloride and S-adenosylmethionine for 3 weeks (127 +/- 13 nmol/g). There were no differences in either hepatic collagen and prolyl hydroxylase activity between rats that received only carbon tetrachloride and those treated with S-adenosylmethionine for 3 weeks. In contrast, carbon tetrachloride-treated rats receiving S-adenosylmethionine for 6 weeks had significantly lower collagen and prolyl hydroxylase activity than the other two groups. A much greater increase in procollagen type I mRNA was found in carbon tetrachloride-treated rats than in rats treated with carbon tetrachloride and S-adenosylmethionine for 6 weeks. Furthermore, there was a significant correlation between the hepatic thiobarbituric acid-reactive substances and prolyl hydroxylase activity and hepatic collagen. CONCLUSIONS: We conclude that the early administration of S-adenosylmethionine in a model of carbon tetrachloride-induced liver injury restores glutathione levels and reduces lipid peroxidation, resulting in less advanced liver fibrosis.

Animals↗
PubMed1996

Anaphylaxis to disodium cromoglycate.

BACKGROUND: Reports about side effects from cromolyn sodium (DSCG) are few and only a minority of them indicate the possibility of an immediate type I hypersensitivity reaction. METHODS: We report an 8-year-old boy with a history of seasonal rhinoconjunctivitis and asthma. The patient reported two immediate episodes of acute asthma following inhalation of a cromolyn sodium (DSCG) capsule with an interval of 6 months. The latter occasion was also associated with conjunctivitis and generalized urticaria, requiring emergency treatment. RESULTS: An end-point prick test elicited a 4-mm wheal at 10 mg/mL with DSCG solution for inhalation and DSCG eye drops. An end-point intradermal skin test with DSCG solution for inhalation elicited a 12-mm mean diameter wheal at 10 mg/mL. During the intradermal test, the patient developed conjunctivitis and wheezing with a FEV1 fall of 27% from baseline. Controlled conjunctival and bronchial challenge tests were positive. The bronchial challenge test was repeated 3 years later showing a FEV1 fall of 22% five minutes after inhalation of 1 mg/mL DSCG during one minute. A leukocyte histamine release test performed by an autoanalysis fluorometric procedure, with several dilutions of DSCG, was negative. CONCLUSIONS: This case of DSCG anaphylaxis satisfies the criteria for an IgE-mediated reaction. We believe that thought should be given more frequently to this mechanism when patients report adverse reactions to DSCG.

Anaphylaxis↗
PubMed1996

Delayed hypersensitivity reaction to paracetamol (acetaminophen).

We are reporting three patients who experienced delayed cutaneous reactions after treatment with paracetamol (acetaminophen). These reactions were confirmed in controlled challenge tests. Patch tests with paracetamol were positive in all patients. A biopsy performed of the case 1 patch test confirmed that the lesion was compatible with delayed hypersensitivity reaction-type allergic contact dermatitis.

Acetaminophen↗
PubMed1996

[Reproducibility of nuclear grade in breast neoplasm. A multicenter experience].

Nuclear grade is considered a valuable prognostic factor in mammary carcinomas. Since the histological diagnosis of most of these tumors is made by "non expert" pathologists, it was considered interesting to find out the reproducibility of general pathologists to define the nuclear grade. In order to do this, a series of 15 mammary carcinomas, 10 of them randomly selected and 5 because they were considered difficult to classify for nuclear grade, were examined separately by 10 general pathologists. In a first round of observation, each one of them graded the cases according to their own criteria as used routinely, and for a second round they followed a written guide. An analysis of variance was applied to the data and no significant differences were found between observers, neither in the randomly selected cases nor in the total series. The written guide, surprisingly, instead of lowering the differences, increased them. Analysis of the individual performance of observers showed two of them having a great variation between both rounds of observation, and this was considered to influence the results of the whole group. Interobserver performance to discriminate high grade tumors (G3) from the rest, showed a good correlation in all the participants. These results allow us to conclude that in this series, examined by general pathologists, an acceptable reproducibility was observed, specially when high risk tumors were being identified.

Analysis of Variance↗
PubMed1996

Neurologic complications after allogeneic bone marrow transplantation.

Neurological complications are not usually considered among the most important complications that may appear after allogeneic bone marrow transplantation (BMT). We have analyzed the occurrence of neurological manifestation in 27 recipients of allogeneic BMT. Ten patients (37%) developed neurological symptoms, and 14 episodes were registered. The most frequent manifestations were due to the use of cyclosporin A or prednisone for prophylaxis or treatment of graft-versus-host disease (GVHD). Cerebrovascular events (infarction or hemorrhage) and CNS infections were the most severe complications: they represented 26% of cause of death in our series. In conclusion, neurological complications are frequent in these patients, and represent an important cause of morbidity and mortality.

Bone Marrow Transplantation↗
PubMed1995

Affinity cleavage of carbamoyl-phosphate synthetase I localizes regions of the enzyme interacting with the molecule of ATP that phosphorylates carbamate.

Two ATP molecules are used in the reaction catalyzed by carbamoyl-phosphate synthetase I. One molecule (ATPA) phosphorylates HCO3- and the other (ATPB) phosphorylates carbamate. Carbamoyl-phosphate synthetase I is a 160-kDa polypeptide consisting of a 40-kDa N-terminal moiety and a 120-kDa C-terminal moiety, the latter being composed of two similar halves of molecular mass 60 kDa. We showed [Alonso, E., Cervera, J., García-España, A., Bendala, E. & Rubio, V. (1992) J. Biol. Chem. 267, 4524-4532] that Fe.ATP bound at the site for ATPB catalyzes the oxidative inactivation of carbamoyl-phosphate synthetase I in a model oxidative system consisting of Fe3+, ascorbate, and O2, and we detected ATP-promoted oxidative cleavage of the enzyme. We now provide further evidence indicating that this cleavage is catalyzed by bound Fe.ATPB, and we demonstrate that the enzyme is cleaved at seven points, which we identify as residues 1002, 1064, 1083, 1128, 1200, 1242, and 1270. All these cleavage points are confined within and distributed throughout the more N-terminal 40-kDa region of the C-terminus of the 120-kDa moiety. Thus, this 40-kDa region contains the ATPB site, is folded as a globular domain with the polypeptide recurring several times towards the nucleotide, and appears to be a modular unit equivalent to carbamate kinase, with full responsibility for ATPB binding and carbamate phosphorylation. The present results and our previous demonstration [Rodríguez-Aparicio, L., Guadalajara, A.M. & Rubio, V. (1989) Biochemistry 28, 3070-3074] of the binding of N-acetyl-L-glutamate in the C-terminal 20-kDa region, strongly support the idea that each homologous half of the 120-kDa moiety of carbamoyl-phosphate synthetase I is composed of a 40-kDa ATP-binding domain and a 20-kDa domain that, in the carboxyl half, is the regulatory domain.

Adenosine Triphosphate↗
PubMed1995

Differential in vitro DNA binding activity to a promoter element of the gn1 beta-1,3-glucanase gene in hypersensitively reacting tobacco plants.

In a hypersensitive reaction to pathogen infection, expression of the beta-1,3-glucanase gn1 gene is induced in cells surrounding the necrotic lesions. The 5'-flanking sequence of gn1 was examined to investigate the molecular basis controlling activation of gene expression during this plant defense response. Studies on transgenic tobacco plants containing gn1 promoter deletions fused to the beta-glucuronidase reporter gene revealed the presence of negative and positive regulatory sequences mediating both the level and the spatial distribution of gn1 expression. Promoter sequences to -138 bp were sufficient to confer increased gene expression around the necrotic lesions produced in response to Pseudomonas syringae pv. syringae inoculation. It is demonstrated by electrophoretic mobility shift assays that nuclear proteins in both healthy and hypersensitively reacting tobacco leaves interact with DNA sequences within the regulatory elements identified. Among the binding sequences characterized, the promoter region extending from -250 to -217 bp contained the DNA motif -GGCGGC- found to be conserved in most if not all promoters of genes encoding pathogenesis-related basic proteins. The activity bound by this promoter sequence was stronger in hypersensitively responding tissues than in healthy untreated tobacco leaves.

Base Sequence↗
PubMed1995

[Juvenile polyposis in 2 patients of the same family].

Two cases of juvenile familiar polyposis (one 40-year-old male and his 14-year-old daughter) are presented. The girl presented intermittent rectal bleeding since the age of 10 with growth retardation and chronic anemia. The child was treated by colectomy with more than 100 juvenile polyps without adenomatous alterations being observed in the surgical specimen. Juvenile gastric polyps were also endoscopically observed. The father underwent sigmoidectomy for a adenomatous polyp of this localization. Later review of the surgical specimen demonstrated a juvenile polyp with zones of adenomatous alterations. The diagnostic difficulties of this rare entity and the therapeutic options available are discussed.

Adenomatous Polyposis Coli↗
PubMed1995

Clinico-pathological correlation in dementias.

The object of this study is to investigate whether or not there are clinical signs and symptoms in patients with dementia that, by themselves or jointly, can be associated with the pathological diagnosis of Alzheimer's disease. Twelve patients with dementia were studied, in whom the clinical diagnosis of Alzheimer's disease was made according to established criteria. A sample of leptomeninges, cortex and subcortical white matter was obtained from each patient and was processed for light and electron microscopy. In the cases in whom neuritic plaques and neurofibrilary tangles were present, pathological changes were quantified. The diagnosis of Alzheimer's disease was confirmed in 5 cases, whereas in 3 patients spongiform encephalopathy was present. In the remaining patients, the number of neuritic plaques was within normal limits for the age of the subjects. Comparison of the data in Alzheimer (n = 5) and non-Alzheimer (n = 7) groups showed an increased, statistically significant incidence of acalculia, abnormalities of judgment, impairment of abstraction and primitive reflexes in the former. Although good fitting models were obtained, none achieved perfect discrimination. The model that included alterations of judgment and acalculia gave the best fit.

Aged↗