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Biomedical subjects

M Casanova

Publications and source records attributed to M Casanova.

137 records · Page 8Linked to original sources
PubMedDate not supplied

Human XX males with Y single-copy DNA fragments.

In humans, XX maleness is the best known example of a sex reversal syndrome occurring with an incidence of one XX male among approximately 20,000 to 30,000 newborn boys. The karyotypes of the majority of these individuals are apparently normal, with respect to the numbers and structure of the chromosomes, but is in contradiction with the phenotypic sex which they display. XX maleness may be either a non Y-related mechanism triggered by a mutation on another chromosome or could be the result of the expression of some cytogenetically undetectable Y chromosome material present in the genome of such individuals. Recently, a number of human Y-specific single copy probes have been isolated. In this study, using several of these Y-specific probes we definitively demonstrate the presence of Y-chromosomal material in the genome of some 46,XX human males. These XX males carry only a fraction of the human Y chromosome. In the three positive cases reported here, presence of inclusive overlapping chromosomal fragments has been detected, implying a genetic heterogeneity of these patients.

DNA↗
PubMedDate not supplied

Nasopharyngeal carcinoma in a boy with fragile X syndrome.

The authors report on what they believe to be the first case of nasopharyngeal carcinoma in a patient with fragile X syndrome. In the literature, a few cases of fragile X syndrome associated with malignancies are described. Although this association seems more than coincidental, the molecular correlation between this syndrome and cancer is yet unclear.

Adolescent↗
PubMedDate not supplied

Childhood liposarcoma: a single-institutional twenty-year experience.

A retrospective observational study was performed on a series of 12 consecutive pediatric patients treated over a 20-year period at the Istituto Nazionale Tumori, Milano. Conservative surgery was the treatment of choice in all patients; radical excision was obtained at diagnosis in 9 cases and after primary chemotherapy in 1 case. Five patients were subjected to surgery alone, and one to postoperative radiotherapy. After a median follow-up of 11 years (range 1-20), all the patients were alive without evidence of disease, 11 in first complete remission, and 1 after local relapse. In agreement with other reports, the authors underline the unquestionable pivotal role of radical surgery in the treatment of liposarcoma. The high proportion of resectable tumors accounts for the excellent survival of the patients in this study. The role of both adjuvant chemotherapy and radiotherapy is uncertain and awaits multicentric cooperative prospective studies.

Adolescent↗
PubMedDate not supplied

Malignant peripheral nerve sheath tumors in children: a single-institution twenty-year experience.

A retrospective series of pediatric patients with localized malignant peripheral nerve sheath tumors (MPNST) treated during a 20-year period at one institution is reported. Between 1976 and 1996, 24 consecutive children were treated by a multimodality approach. Conservative surgery was the treatment of choice: primary radical surgery was performed in 10. Postoperative radiotherapy was administered in 12 and adjuvant chemotherapy in 19. Eight patients were alive without evidence of disease, six in first complete remission and two in second complete remission, after a median follow-up of 230 months. The 10-year event-free survival (EFS) and survival were 29% and 41%, respectively. Survival was 80% for the patients who underwent radical surgery, and 14% for the others; 71% for patients with tumors smaller than 5 cm, and 29% for those with tumors 5 cm or larger. Local recurrence was the major cause for treatment failure (13 of 17; 76%); the rate of local relapse was 33% v 75% in patients who either received or did not receive radiotherapy. Complete surgical excision remains the most effective treatment for MPNST and represents the main prognostic factor along with tumor size. Radiotherapy seems to play a role in achieving local control, whereas the role of chemotherapy is uncertain.

Adolescent↗
PubMedDate not supplied

[Actual status of multiple sclerosis in Cuba. National cooperative group for the clinical trial "Recombinant interferon alpha-2b in multiple sclerosis"].

INTRODUCTION: Multiple sclerosis (MS) has been considered to be an uncommon disorder in Cuba. In recent years many Cuban investigators have worked hard studying MS in Cuba. DEVELOPMENT: We review the history, epidemiology, clinical characteristics, complementary investigations and clinical trials of recent studies published in national and international journals on the most important investigations done on MS in Cuba. There is an outstanding placebo-controlled, double blind, multicentric randomised clinical trial using recombinant alpha 2b-IFN in the relapsing-remitting clinical form in which the results obtained in the first 30 patients who completed 2 years treatment show a statistically significant reduction in the frequency of relapses and the number of patients free of relapses in patients who received alpha-IFN as compared with those given placebo treatment. CONCLUSIONS: There has been an increase in the number of studies made on MS in Cuba in the past two years. Numerous clinical, neuroepidemiological, neurophysiological, biochemical, immunological, imaging and neuropsychological investigations and clinical trials indicate a marked increase in understanding of MS. The results of all these studies indicated the need for the creation of a National Reference Centre for Patients with Multiple Sclerosis, due to the complexity of this type of patients and the need to offer improved medical attention from a specialist team and to integrate the investigations in Cuba and internationally so as to reach the level of more developed countries.

Adjuvants, Immunologic↗
PubMedDate not supplied

[Functional significance of collateral coronary circulation in univascular obstructions (1)].

The presence, degree and functional significance of the coronary collateral circulation was investigated in a group of 68 patients with angiographycally important (greater than 60%) univascular coronary obstruction. The following clinical parameters were reviewed. Smoking, hypertension, diabetes mellitus, functional class (NYHA), and degree of angina pectoris. In the ECG the presence of abnormal Q waves and the response to the stress test were analysed. To evaluate the functional significance of the collateral circulation the following angiographic and hemodynamic parameters were measured: ejection fraction (FE 100), mid sistolic ejection fraction (FE 50), percent of regional shortening of the left ventricular wall and finally the end diastolic pressure. According to the obstructed vessel (R, DA, Cx) the degree of obstruction (parcial or complete) and the degree of collateral circulation (O, I, II, III) several groups were formed. Statistical analysis of all the above mentioned clinical, electrocardiographic and angiographic findings were compared amongst the various groups. Coronary collateral circulation was demonstrated in 45 patients (68%) being present in 82% of those with complete coronary obstruction. In most of the patients (87%) an abundant collateral network was present (grade II or III). No statistical differences were demonstrated between the groups with abundant or poor collateral circulation in all the clinical, electrocardiographic or angiographic parameters. Finally we conclude that important collateral circulation usually develops in the presence of severe coronary obstruction; however its functional value is limited.

Adult↗
PubMedDate not supplied

Rhabdomyoma of the heart: surgical treatment.

Rhabdomyoma of the heart may cause severe hemodynamic obstruction specially in infants. Medical treatment carries a 100% mortality, but there are no clear surgical indications for these patients. Accordingly we reviewed the world literature (30 operated patients) adding our own experience (1 successfully operated patient) Based on our data and that of other we conclude: (1) Severely ill patients with rhabdomyoma should be operated upon. Age or associated tuberous sclerosis are not surgical contraindications. (2) Removal of the hemodynamic obstruction should be the main surgical goal. Radical resection of the tumor is not necessary and may be dangerous. (3) Surgical mortality is acceptable and it is becoming lower with time. (4) Long-term outcome for successfully operated patients is unknown.

Angiography↗
PubMedDate not supplied

[The radiofrequency ablation of accessory pathways in 100 consecutive patients with supraventricular tachycardias].

The purpose of this study is to describe the results and the complications of radiofrequency catheter ablation, of accessory pathways in 100 consecutive patients. We had one patient with two pathways. Of the 101 accessory pathways, 56 were overt and 45 concealed. Only 19 patients have had a previous electrophysiology study, in the others, the study and the ablation were performed simultaneously. The location of the accessory pathways were as follows: 61 pathways in the free wall of the left ventricle, 4 in the free wall of the right ventricle, 25 in the left posteroseptal region, 9 in the right posteroseptal region and 2 in the right anteroseptal area. The time required for the diagnostic component of the electrophysiology study, the ablation procedure and the fluoroscopic time was recorded for each patient. Ninety-one of 101 accessory AV connections were successfully ablated (90%). Our success rate for the initial attempt was 87%. We had the opportunity to do a second attempt in only 4 out of 14 patients. The mean time of the procedure, including the electrophysiology test and the ablation was 95.6 %/-55.3 minutes. We have had a recurrence of 9% and 4% of non fatal complications. Radiofrequency catheter ablation can be performed safely and with a high success rate.

Adolescent↗