Biomedical subjects

J M Vendrell

Publications and source records attributed to J M Vendrell.

9 recordsLinked to original sources

PubMed2004

Preimplantation genetic diagnosis in patients with male meiotic abnormalities.

Indications and candidates for preimplantation genetic diagnosis (PGD) have increased in recent years. This study evaluates whether IVF-intracytoplasmic sperm injection (ICSI) results could be improved by selecting embryos through PGD-AS (aneuploidy screening) in couples in whom the male partner presents meiotic abnormalities. Two hundred and fifty-six embryos were biopsied and 183 were suitable for analysis (73.2%). Ninety-two embryos showed normal chromosomal analysis (50.3% of the analysed embryos and 57.5% of the diagnosed embryos). Pregnancy, abortion and implantation rates were compared with 66 IVF-ICSI cycles performed in 44 patients with meiotic abnormalities without PGD (control group). No statistically significant differences in the pregnancy rate (52 versus 43.9%), implantation rate (32.1 versus 23.5%) and miscarriage rate (15.4 versus 10.3%) were observed between the groups. Although the embryos obtained from men with meiotic abnormalities showed a high frequency of chromosome abnormalities, no improvements in pregnancy and implantation rates were obtained after PGD-AS in the series analysed.

Abortion, Spontaneous↗

PubMed2000

Increased incidence of meiotic anomalies in oligoasthenozoospermic males preselected for intracytoplasmic sperm injection.

PURPOSE: Based on data from the literature, to detect the possible presence of an increased frequency of meiotic anomalies in oligoasthenozoospermic (OA) patients preselected for intracytoplasmic sperm injection. METHODS: Meiotic studies in as many successive patients with a clinical indication for a diagnostic testicular biopsy as needed to complete at least 100 cases with a severe OA (motile sperm concentration < or = 1.5 x 10(6)/ml). RESULTS: An increased incidence of meiotic anomalies was found in 102 patients with a severe OA (17.6%) compared to the mean for 105 patients with other etiologies in the series (5.7%) or the mean for patients reviewed in the literature (6.5%). CONCLUSIONS: Patients with a severe OA have a higher incidence of synaptic anomalies. This may result in the malsegregation of chromosomes at meiosis I, producing abnormal sperm, and could explain the high incidence of sterility and some cases of abortion (in two thirds of the couples with abortions the husband had meiotic anomalies) in this group.

Biopsy↗

PubMed1999

Screening for abnormalities of chromosomes X, Y, and 18 and for diploidy in spermatozoa from infertile men participating in an in vitro fertilization-intracytoplasmic sperm injection program.

OBJECTIVE: To evaluate the frequency of disomy (for chromosomes X, Y, and 18) and of diploidy in the spermatozoa of infertile men undergoing intracytoplasmic sperm injection (ICSI). DESIGN: Prospective analysis of sperm nuclei by fluorescence in situ hybridization (FISH). SETTING: University-affiliated IVF-ICSI program. PATIENT(S): Semen samples from 19 patients participating in an IVF-ICSI program. INTERVENTION(S): Semen samples were analyzed and prepared for FISH. MAIN OUTCOME MEASURE(S): Semen parameters were evaluated. The frequency of disomy for chromosomes X, Y, and 18 and the frequency of diploidy were analyzed by FISH. RESULT(S): A total of 9,373 spermatozoa from 19 infertile patients were analyzed and compared with spermatozoa from a control group of 5 healthy men. No differences in the frequency of disomy 18 were found, but statistically significant differences in the incidence of sex chromosome disomy and of diploidy were observed. CONCLUSION(S): The study of sperm nuclei by FISH is useful to improve genetic counseling in infertile patients selected for ICSI.

Adult↗

PubMed1999

Meiotic abnormalities and spermatogenic parameters in severe oligoasthenozoospermia.

The incidence of meiotic abnormalities and their relationship with different spermatogenic parameters was assessed in 103 male patients with presumably idiopathic severe oligoasthenozoospermia (motile sperm concentration < or = 1.5 x 10(6)/ml). Meiosis on testicular biopsies was independently evaluated by two observers. Meiotic patterns included normal meiosis and two meiotic abnormalities, i.e. severe arrest and synaptic anomalies. A normal pattern was found in 64 (62.1%), severe arrest in 21 (20.4%) and synaptic anomalies in 18 (17.5%). The overall rate of meiotic abnormalities was 37.9%. Most (66.7%) meiotic abnormalities occurred in patients with a sperm concentration < or = 1 x 10(6)/ml. In this group, total meiotic abnormalities were found in 57.8% of the patients; of these, 26.7% had synaptic anomalies. When the sperm concentration was < or = 0.5 x 10(6)/ml, synaptic anomalies were detected in 40% of the patients. In patients with increased follicle stimulating hormone (FSH) concentrations, total meiotic abnormalities occurred in 54.8% (synaptic anomalies in 22.6%). There were statistically significant differences among the three meiotic patterns in relation to sperm concentration (P < 0.001) and serum FSH concentration (P < 0.05). In the multivariate analysis, sperm concentration < or = 1 x 10(6)/ml and/or FSH concentration > 10 IU/l were the only predictors of meiotic abnormalities.

Adult↗

PubMed1997

Subjective experience in brain-injured patients and their close relatives: a European Brain Injury Questionnaire study.

Results are reported from an international project the aim of which has been to develop and validate a wide-ranging questionnaire suitable for administration to brain-injured patients and their relatives. A self-report questionnaire concerning subjective experience of cognitive, emotional and social difficulties (The European Brain Injury Questionnaire, EBIQ) was administered to a group of 905 brain-injured patients, and close relatives to these competed a parallel version of the questionnaire concerning the brain-injured person. The sample was drawn from seven European countries together with Brazil. The same questionnaire was also administered to a group of 203-non-brain-injured controls, similarly in self-report and relative-report versions. Scales relating to eight specific areas of functioning, together with a global scale, are derived from the questionnaire and their internal reliability was estimated in the present data. Analyses of the 63 items of the questionnaire showed consistently greater levels of problems for the brain-injured group, especially as indicated by relatives. This pattern was substantially replicated among the nine scales. The scales discriminated well between stroke patients and those who had suffered a traumatic brain injury. There was also a tendency for reported problems to be greater for patients who were surveyed later post-injury (> or = 19 months) rather than earlier. Comparison of sets of controls derived from two countries (France and Brazil) showed small but important differences. It is concluded that the questionnaire has an acceptable reliability and validity, but that it will be necessary to obtain culturally relevant non-brain-injured control data when employing it in different countries.

Adolescent↗

PubMed1988

Multiple memory deficits in patients with multiple sclerosis. Exploring the working memory system.

Some patients with multiple sclerosis (MS) demonstrate impaired memory. A group of 16 patients with MS who were mildly to moderately affected (Kurtzke Expanded Disability Status Scale Score = 3.8) were studied, and they were compared with a matched control group on tests of "working memory." The working memory system was explored by evaluating the amount of information that can temporarily be held in a buffer system during encoding. Results indicated that patients with MS have difficulty in processing information at the level of a hypothesized articulatory loop in working memory. This deficit was correlated with their retrieval of verbal information from long-term memory, as well as how accurately they processed verbal information presented at a rapid rate. There was no significant relationship between ratings of MS severity or number of plaques visualized on magnetic resonance imaging scans and the degree of working memory deficit.

Adult↗

PubMed1984

The dosage dependency of growth and maturity in growth hormone deficiency treated with human growth hormone.

A group of 11 pre-pubertal growth hormone deficient patients were treated with human growth hormone over a period of 4 years. In 6 of the patients the dosage was 4 IU 3 times a week and in 5, 8 IU 3 times a week. Changes in height demonstrated that the "catch up" was significantly greater and of longer duration in the second group. In spite of a more rapid increase of bone age in the second group, the prognosis of final height had improved significantly at the end of the study period. A comparative study of the plasma concentrations significantly at the end of the study period. A comparative study of the plasma concentrations of T4, TSH, gonadotrophins and steroids, to see if the greater velocity of bone maturity in the second group could be due to contamination of the preparation by other could be due to contamination of the preparation by other hypophysary hormones, did not demonstrate significant differences between the groups.

Body Height↗

PubMedDate not supplied

Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion.

Human male infertility is often related to chromosome abnormalities. In chromosomally normal infertile males, the rates of chromosome 21 and sex chromosome disomy in spermatozoa are increased. Higher incidences of trisomy 21 (seldom of paternal origin) and sex chromosome aneuploidy are also found. XXY and XYY patients produce increased numbers of XY, XX and YY spermatozoa, indicating an increased risk of production of XXY, XYY and XXX individuals. Since XXYs can reproduce using intracytoplasmic sperm injection (ICSI), this could explain the slight increase of sex chromosome anomalies in ICSI series. Carriers of structural reorganizations produce unbalanced spermatozoa, and risk having children with duplications and/or deficiencies. In some cases, this risk is considerably lower or higher than average. These patients also show increased diploidy, and a higher risk of producing diandric triploids. Meiotic disorders are frequent in infertile males, and increase with severe oligoasthenozoospemia (OA) and/or high follicle stimulating hormone (FSH) concentrations. These patients produce spermatozoa with autosomal and sex chromosome disomies, and diploid spermatozoa. Their contribution to recurrent abortion depends on the production of trisomies, monosomies and of triploids. The most frequent sperm chromosome anomaly in infertile males is diploidy, originated by either meiotic mutations or by a compromised testicular environment.

Abortion, Habitual↗

PubMedDate not supplied

[Aphasia: semiology and clinical patterns].

INTRODUCTION: Human language is the final result of a group of brain activities directed towards the reception, integration and elaboration of linguistic messages. DEVELOPMENT: The disorganization of these activities following brain damage brings about a new linguistic functional level which constitutes the aphasic syndrome. Its assessment provides the clinician with information on the destroyed and impaired aspects and on those that have remained intact. The rehabilitation of aphasia should take into account the different components of the neurolinguistic semiology which have been evidenced by previous assessment, without forgetting that the rehabilitation process does not only have to deal with the expressive and receptive aspects of language, but also with a range of other possible cognitive impairments caused by the cerebral lesion and with the social and emotional problems that follow the new personal and social situation after the lesion.

Aphasia↗