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J Sánchez García

Publications and source records attributed to J Sánchez García.

At least 19 recordsLinked to original sources
PubMed2000

[Lowering high levels of fasting total homocysteine with folic acid and vitamins B in patients with venous thromboembolism: relationship between response and the C677T methylenetetrahydrofolate reductase (MTHRF) genotype].

BACKGROUND: High levels of plasma total homocysteine (tHcy) are involved in arterial or venous occlusive diseases. It essentially depends on the nutritional status of folic acid (FA) and vitamins B12 or B6, but also on the methylenetetrahydrofolate reductase (MTHFR) enzymatic activity. We aim to evaluate the response of the hyperhomocysteinemia (HHcy) to a standard schedule of vitamin supplementation, according with the MTHFR genotype. PATIENTS AND METHODS: 227 patients, diagnosed with venous thromboembolism (VTE) were analysed for tHcy (in fasting conditions), and for the MTHFR-C677T gene polymorphism. When the tHcy exceeded the cut-off point (men = 16, women = 15 mumol/l), the patients were supplemented with a dose equivalent to 1 mg FA, 0.2 mg B12 and 100 mg of B6, daily by 6 weeks. Afterwards they were reanalysed and the reduction was stratified by MTHFR genotype, looking for any difference in the response. RESULTS: The mean fasting tHcy was 12.3 mumol/l (SD = 8). The 51 hyperhomocysteinemic patients (22%) were older (65.1 y) than the normal ones (55.0 y) (p = 0.0001). The treatment was carried out properly in 46 patients (90%). The pre-treatment mean Hcy was 23.2 (SD = 10.5) mumol/l, and it was reduced to 13.0 (SD = 5.9) (p = 0.0001) (mean reduction = 42.1%). By genotype, the C/C reduced from 21.0 to 13.2 mumol/l (37%) (n = 18), the C/T from 25.0 to 12.6 mumol/l (46%) (n = 24), and the abnormal homozygotes T/T from 22.7 to 14.5 mumol/l (39%) (n = 4), although no statistical significant differences were found. In 80% of cases (37/46), tHcy values normalised. A negative correlation (r = -0.471) (p = 0.005) was observed between age and response. CONCLUSIONS: The FA/B6/B12 based therapy reduces in a simple, quick and effective way (> 40% in 6 weeks) the pathologic tHcy levels on a VTE population and this is not influenced by the MTHFR genotype. As HHcy seems related with recurrences of venous thrombosis, we could speculate if it would be useful to analyse routinely the tHcy, attempting reduction in selected cases.

Adult↗
PubMed2000

Clinical, physical, sperm and hormonal data in 251 adults operated on for cryptorchidism in childhood.

OBJECTIVE: To determine the clinical, physical, sperm and hormonal status during adulthood in cryptorchid patients operated on during childhood, and to assess these variables according to the age at surgery and preoperative testicular position. PATIENTS AND METHODS: A letter was sent to all 890 patients > 18 years old who underwent surgery for cryptorchidism during childhood; 274 responded and were assessed using a sexual history, physical examination, pituitary axis study and sperm analysis. Data were complete for 251 patients (mean age 21 years, range 18-30); 196 had unilateral (25 anorchic) and 55 had bilateral cryptorchidism. Clinical, surgical and anatomopathological records at surgery during childhood were also reviewed. RESULTS: The mean (SD) age at orchidopexy was 6.4 (3.3) years and the mean age at assessment 21.1 (2.7) years. Semen samples generally showed abnormalities; 10 patients (4%) with bilateral and 57 (23%) with unilateral cryptorchidism had semen values within the normal range. There was no correlation between the sperm count and age at surgery for unilateral or bilateral cases (Spearman test). There was a significant correlation (r = - 0.41) between the sperm count and level of follicle-stimulating hormone (FSH). There were no significant differences in the sperm count for patients with different testicular locations (ANOVA) or in those treated or untreated with human chorionic gonadotrophin (Student's t-test). The only significant relationship (P < 0.001) was between the sperm count and unilateral or bilateral cryptorchidism. CONCLUSIONS: The sperm quality of adults operated on for cryptorchidism during childhood is independent of the age at surgery or testicular location, but is influenced by whether the cryptorchidism was unilateral or bilateral. FSH levels were negatively correlated with sperm density.

Adolescent↗
PubMed2000

[Scrotal hypospadias. Our experience with free oral mucosa grafts].

Many surgical techniques, using different tissues, have been performed to repair the scrotal hypospadias in this century, but none of them has been completely effective. The use of autologous buccal mucosa as a free graft for urethral replacement was introduced in 1989. The reported results have been encouraged since then. Twenty three patients with scrotal hypospadias, have been treated from 1991 to 1998. These patients underwent a 2-stage surgical replacement. The first stage of the procedure included correction of the penile curvature and advancement of preputial flaps ventrally as described by Byras. The second stage of the procedure was the urethroplasty. The neourethra was made of a tubularized buccal mucosa graft. The mucosa was harvested from the inner surface of the lower lip. The first stage was performed at a mean age of 20 months old, and the second stage at a mean age of 32 months old. Micropenis was detected in 26% of patients. All of them were treated with topic testosterone before the second stage. The follow-up reflected that 7 out of 23 patients (30.4%) had not complications, while 16 patients (69.5%) developed urethro-cutaneous fistula. Six of them (26%) required only one surgical closure and the other 10 patients required more than one surgical procedure to correct several complications. One patient presented complications in both the recipient and the donor areas. Nowadays, cosmetic and functional results are good in 22 patients.

Abnormalities, Multiple↗
PubMed1999

[20210A mutation of the prothrombin and venous thromboembolism gene].

PURPOSE: Various genetic disorders interact with environmental factors to cause thrombotic diseases. Recently, a G to A transition at nucleotide 20210 in the prothrombin gene, has been described in association with venous thromboembolism, in Dutch population. Currently, several reports want to know the frequence of this mutation in other ethnic groups and populations. The aim of this work was to assess the prevalence rates of prothrombin mutation in both, thrombotic and healthy Spanish populations, and to estimate the associated relative risks. We described the clinical features in our series of thrombotic carriers and moreover, we compared a routine clotting test versus DNA analysis in the diagnosis of this anomaly. POPULATION, MATERIAL AND METHODS: The design was a non-matched case-control study. The involved populations were: 187 patients of venous thromboembolic diseases and 200 healthy controls. Patients and controls were genotyped and both, carriers and non-carrier patients, were analyzed by a routine prothrombin clotting assay, to determine the sensibility and specificity and optimal cut off level of the test. RESULTS: The 20210 A allele was identified in 17 patients (9.1%) and in 7 controls (3.5%), with a 2.76-fold increased risk (OR 2.76, 95% CI = 1.12-6.81), in carriers. One patient and none of the controls were homozygous. The clinical characteristics (first manifestation age or thrombotic recurrence) are similar in both, carriers and non-carriers, patient groups. The prothrombin level by a routine coagulometric method was 1.31 +/- 0.14 U/ml (95% CI = 1.24-1.38) for the 20210 A carriers, whereas for the non carrier-patients was significantly lower, 1.06 (95% CI = 1.03-1.08) (p < 0.00001). With a cut off level of 1.25 U/ml, 12/16 (75%) carriers and 14/132 (10.6%) non-carriers were positive. Therefore, the sensibility was 75% and the specificity 89.4%. With a cut off level of 1.40 U/ml the diagnostic efficiency was even worse. CONCLUSIONS: 3.5% of healthy subjects and 9.1% of thromboembolic patients carried this prothrombin mutation with a relative risk of 2.76 (95% CI = 1.12-6.81). The relevant clinical features are similar to the rest of the series. The mean prothrombin level was higher (1.31 U/ml) than in the normal patients (1.06 U/ml), but the clotting test seems inappropriate for a diagnostic purpose.

Adult↗
PubMed1999

[Fertility survey. Approximation to normal values].

OBJECTIVE: To determine the fertility data in Aragón, Spain. METHODS: A survey was conducted in several companies during 1997 and 1998. Participation in the survey was optional, participants were not identified and a table of random figures was utilized. Error 2 +/- 2.98, 95% confidence interval, P = Q = 50%. RESULTS: 139 employees participated in the survey; 94% were male, 6.4% were single, 87.7% married, 5.7% had a stable partner, 12.3% had higher level, 53.6% medium and 34% elementary level education. Mean number of children per couple was 1.7 and mean number of children desired was 1.9. Mean time from decision to have children to pregnancy was 4.5 months. Mean age at conception of the first child was 28 years for the men and 25 years for the women. One of the partners was employed in 42.7% of the cases. Mean working hours was 8.3 and mean number of years in the same job was 14.5. Twenty-one percent considered they were exposed to toxic substances. Mean hours of sleep was 6 hours, 35% took warm baths and 24.4% used tight-fitting underclothes. Ninety percent drank alcohol and/or coffee mild to moderately and 50% were smokers. No significant differences were found in the number of children according to level of education, type of work or if one of the partners or both were employed. A clearly negative correlation was found between the year of birth and the number of children desired. CONCLUSION: In Aragón, the birthrate trend remains low and does not appear to be influenced by the economic level, life style, type of job or whether or not both partners are employed.

Adult↗
PubMed1998

[Surgery on the crystalline lens. A plan of standardized care].

In these days of concern for the growing costs of medical care it is an opportune moment to promote the importance of nurses as health care professionals and the roles that they play. This article presents a structural care plan for specific clinical situations regarding lens surgery with the goal of both guaranteeing quality nursing care and a method to evaluate costs. Lens surgery, a equently performed operation in the hospital, is used as an example to evaluate criteria of adequate service and efficiency. This method is based upon L.J. Caronito s bifocal model of clinical nursing.

Cataract Extraction↗
PubMed1989

[Eosinophilic cystitis].

We report two cases of eosinophilic cystitis in children of 11 months and 11 and a half year of age respectively. The presenting symptoms were the emision of mucosanguinolent filaments in the urine in one case and with lower urinary tract symptoms and macroscopic hematuria in the other. Physical examination revealed in one of them a round, tough and painful mass in the hypogastric area. In one case we found peripheral blood eosinophilia. They both showed in the Urinalysis albuminuria, pyuria and hematuria, with the presence of eosinophils in one of them. Macroscopic examination presented in the two cases a tumoral, mamelonne mass in the wall of the bladded. The diagnosis was anatomopathologic due to the demonstration of an inflammatory infiltration, primarily of eosinophils. The clinical course was unfavourable in the case an hemicystectomy was practicated and self-limited in the one only symptomatic treatment was used.

Child↗
PubMed1988

[Roberts-SC phocomelia syndrome: cytogenetic findings and clinical variability in three brothers].

Three sibs with Roberts syndrome SC-phocomelia are presented. The first one, a nine years old girl, with a malformative syndrome consistent with SC-phocomelia: symmetrical reductive malformations of the upper limbs; flexion contractures of both knee joints; multiple minor anomalies, including hemangioma of the face, hypoplastic nose, dysplastic ears and scanty, silvery blond hair; intrauterine and extrauterine growth retardation; psychomotor and mild mental retardation. Cytogenetic study reveals a centromeric abnormality consistent with an unusual sister chromatid disjunction in all metaphases, that can also be a useful tool in prenatal diagnosis. Next two sibs were males and offspring of a twin pregnancy and were found to have a malformative syndrome consistent with Roberts syndrome: low birth weight; dysplastic ears; hypertelorism, exophthalmos and cloudy corneas; bilateral cleft lip and cleft palate; severe reductive defects in both upper limbs and only syndactylia in the lower ones. Both sibs died soon after delivery. Autosomic recessive pattern of inheritance of this disorder, presentation in the same sibship of Roberts and SC-phocomelia syndromes, as different degrees of expression of the same disorder, and relationship of cytogenetic findings with cell division are discussed.

Child↗
PubMedDate not supplied

[Excretory azoospermia secondary to a cyst of the seminal vesicle].

A case report of malformation of the right mesonephric ductus, involving a seminal vesicle cyst and ipsilateral renal and ureteral agenesis. The infrequency of such pathology is recalled and the oddity, in our case, of its presentation in the fashion of infertility secondary to excretory azoospermia highlighted. The deferentovesiculography, ultrasound scanning, urography and CAT were highly illustrative in the diagnosis. The treatment of choice in symptomatic cases is surgical exeresis, which in our patient secured the resolution of the azoospermia.

Abnormalities, Multiple↗
PubMedDate not supplied

[Diagnostic and therapeutic aspects in Klinefelter's syndrome. Our experience].

We present a retrospective study of 30 new cases of Klinefelter's syndrome and set forth our customary diagnostic and therapeutic schedule. We analyse the results obtained and single out the fact that 100% of the patients displayed high gonadotropins and 45% apparent plasmatic testosterone normality at the time of diagnosis. There is a relationship between lower semen fructose concentration, smaller volume of semen and higher degree of hypoandrogenism in Klinefelter's syndrome. Long duration hormonal treatment with testosterone esters is effective in improving the physical psychic and sexual state of patients. The interval between the last administration and the control hormone determination should be uniform for correct result evaluation.

Adolescent↗