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Biomedical subjects

F Ballesta

Publications and source records attributed to F Ballesta.

54 records · Page 3Linked to original sources
PubMed1983

Primary liposarcoma of the right ventricle and pulmonary artery: surgical excision and replacement of the pulmonic valve by a Björk-Shiley tilting disc valve.

A case of primary liposarcoma of the right ventricle and pulmonary artery is presented. The clinical picture, diagnostic studies, operative treatment and postoperative evolution are commented upon. Attention is drawn to the fact that this is the third case of liposarcoma of the heart to be operated upon, and the first needing pulmonary valve replacement. The literature related to this exceedingly rare primary neoplasm of the heart is reviewed.

Female↗
PubMed1982

Prognostic significance of cytogenetical studies in chronic granulocytic leukaemia.

In a series of 121 patients with chronic granulocytic leukaemia (CGL) the frequence and prognostic significance of two cytogenetical features (absence of Ph'-chromosome and presence of Ph'-mosaicism) were studied. 13% of the patients were Ph'-negative, these patients showing a shorter survival than the Ph'-positive ones (P less than 0.005). 23 instances of Ph'-mosaicism were found (22.5%). This feature was observed either at diagnosis or after treatment, and irrespective of the patient's being in chronic or blastic phase of CGL, but in no case later than 2 years from diagnosis of the disease. Ph'-mosaicism patients vs the remainder of the Ph'-positive group were compared for survival, and no difference was found. The lack of prognostic significance of Ph'-mosaicism was evident regardless of the latter feature being detected at diagnosis or after treatment.

Adolescent↗
PubMed1981

[Hyperinsulinism and peripheral resistance to insulin in a case of leprechaunism].

The study of hydrocarbonated metabolism in a newly born affected by leprechaunism is presented. Glycemia throughout the day and with a diet rich in carbohydrates (80 g/day) fluctuated between hyperglycemic (295 mg/dl) and hypoglycemic (37 mg/dl) figures. When ingestion of carbohydrates was reduced to half and the intake fractioned these fluctuations dissappeared. After a glucose overdose (3 g/kg IV) insuline figures were permantely high (from 315 IV/ml to 251 IV/ml). Exogen insulin test (0,1 IU/kg IV) did not reduce glycemia to an improtant level (time 0: 187 mg/dl; time 60: 129 mg/dl). The administration of glucagon (0.3 mg/kg did not normally raise glycemia (35, 54, 31 and 41 mg/dl in times 0', 30', 60 and 120'). In the studied case existed an intolerance to diets rich in carbohydrates, hyperinsulinism and lack of response to insulin and glucagon. Insulino-resistance seems to be of the peripheral type because neither elevated figures of antagonists nor presence of antiinsulin antibodies were detected and the response to exogen insulin was diminished. The underdevelopment of these patients seems to depend upon the alterations of the hydrocarbonates metabolism and the simple improvement of it by means of dietetic measures seems to be of great therapeutic value.

Blood Glucose↗
PubMed1979

Gram-negative germs infections in infancy.

The incidence of systemic or local infections due to gram-negative bacilli in an Infant Ward from September 1969 to December 1976 was 7.9%. The 29.34% were septicemia, most of them as epidemic outbreaks caused by Pseudomonas aeruginosa, Klebsiella-Enterobacter and Serratia marcescens. Two facts are to be emphasized: an almost complete disappearance of systemic infections with Pseudomonas starting from 1972, and the global predominance of the group Klebsiella-Enterobacter, particularly evident from 1970 to 1972.

Bacterial Infections↗
PubMed1979

[Male pseudohermaphroditism due to deficit in the conversion of cholesterol to delta5 pregnenolone (author's transl)].

One patient, aged 13 months, considered phenotipically a female, was admitted with a picture of acute dehydration. Familial history (one sister dead from the same picture at the age of 18 months), clinical data (several episodes of dehydration, dark skin and mucosae, and slight abnormalities in the external genitalia), hormonal examinations (low plasmatic levels of cortisol, aldosterone, androgens and low urinary excretion of 17 hydroxycorticoids, dehydroepiandrosterone and ethiocholanolone), chromosomal examination (karyotype XY) and histological data (normal testis) suggested a diagnosis of male pseudohermaphroditism with complete feminization due to an abnormal conversion of cholesterol in delta5 pregnenolone. Late appearance of the first episode of dehydration, particularly intense cutaneous pigmentation and statural growth and bone maturation both unaffected, are some particular traits of this patient.

3-Hydroxysteroid Dehydrogenases↗
PubMedDate not supplied

Chromosomal abnormalities and polymorphisms in infertile men.

The aim of this study was to determine the prevalence of alterations and normal variable chromosome features in males from infertile couples. Karyotyping was performed to 84 men attending the infertility clinic at the Hospital Clinic i Provincial of Barcelona (Spain). Sex chromosome abnormalities were detected in 19 patients (26.62%): 14 (16.67%) aneuploidies 47,XXY and 47,XYY, 3 (3.57%) Y-chromosome long arm deletions; 1 (1.19%) mosaic 45,x/46,XY and 1 (1.19%) Robertsonian translocation (45.X-15-Y+t(15p: Yq). Chromosomal polymorphisms were observed in 29 patients. Yqh+ was the most frequent variant in sex chromosomes and increased length in heterochromatin and satellites were present in autosomal chromosomes. The high prevalence of chromosomal abnormalities observed in infertile men justify the use of karyotyping to evaluate males enrolled in new assisted reproductive technologies programs.

Adult↗
PubMedDate not supplied

Trichothiodystrophy associated with urologic malformation and primary hypercalciuria.

Trichothiodystrophy (TTD) is a hair abnormality that may be associated with a large number of alterations affecting the skin phenotype and skin appendages, nervous system, eyes, bones, and immune, gonadal, and endocrine systems. We report the first case of TTD associated with a urologic malformation and primary hypercalciuria. Our patient had congenital ichthyosis, physical and mental retardation, and a dysmorphic facies associated with a complex urologic malformation and primary hypercalciuria. Characteristic features of his hair under microscopic examination (trichoschisis, alternating light and dark bands under polarizing microscopy, and a severely defective cuticle) and low sulfur content by radiographic microanalysis confirmed the diagnosis. We discuss the meaning of this new association in the spectrum of abnormalities related to TTD.

Abnormalities, Multiple↗
PubMedDate not supplied

Cytogenetic studies in fetal blood.

In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8-9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.

Chromosome Aberrations↗
PubMedDate not supplied

[Transient cerebral oedema associated to hypoglycaemia].

INTRODUCTION: In the adult, hypoglycaemia is documented as a consequence of overdose of insulin or oral hypoglycaemic agents. Neonatal hypoglycaemia is common but rarely symptomatic due to protective mechanisms. Very few reports on hypoglycaemic injury are available in adults and most of them in patients with poor outcome. CASE REPORT: Woman, 45 years old. She is referred to emergency room due to insulin overdose and coma of unknown duration. Glucose level was 15 mg% without other metabolic anomalies. Computerized tomography revealed brain oedema most obvious in the parieto-occipital lobes. Therapy with manitol and glucose was started with total functional recovery. CONCLUSIONS: Brain imaging in neonatal hypoglycaemia shows similar findings. In the acute phase oedema in the parieto-occipital cortex and underlying white matter and atrophy or malacic cysts in the chronic phase have been described. Chronic changes are related to long-term sequelae that vary from development delay and epilepsy to persistent vegetative state. In adults lesions involve hippocampus and basal ganglia. The reasons of different sensitivity of these regions are not fully clear. Differences in regional blood flow autoregulation or in excitotoxins receptors of aspartate have been postulated. Hypoglycaemia may induce blood-brain-barrier permeability and subsequently brain oedema.

Blood Glucose↗
PubMedDate not supplied

[Genetics and allergy].

Complex diseases, including diseases of allergic origin (asthma, rhinitis, dermatitis), tend to cluster in families, suggesting the existence of a genetic predisposition that has been confirmed by the family and twin studies. However, it is difficult to establish a clear Mendelian pattern of inheritance and it is accepted that multiple genes exist which have an additive effect (polygeny) and interact with environmental factors (multifactorial polygenic mechanism) to cause not only the atopic constitution but also the pathology that derives from it. Advances in genetics and molecular biology, through linkage studies in chosen family nuclei and different population groups, are facilitating the location of chromosomal regions related with allergic pathology. The genes situated in these regions are considered candidate genes, and the genes themselves and the functions that they control are studied in relation to allergic disease. Although there are regions and candidate genes distributed throughout the genome, chromosomes 5, 6, 11, and 14 contain genes whose responsibility for susceptibility to atopy, asthma and bronchial hyperreactivity is accepted and whose polymorphisms could be risk factors. The study of these genes and many other candidate genes may clarify some etiopathogenic aspects of diseases of allergic origin and improve their prophylaxis and therapy.

Asthma↗