Biomedical subjects

M Covic

Publications and source records attributed to M Covic.

At least 55 records · Page 3Linked to original sources

PubMedDate not supplied

[ The importance of genetic factors in pathogenesis of central infertility (hypothalamic and pituitary].

The infertility is a important health problem, affecting about 10-15% of couples. The important role of genetic factors in pathogenesis of infertility is now increasingly recognized and our knowledges in this field are improved each day. For these reasons we review the most important genetic causes of infertility. In this paper we analyse the genetic implications in central infertility (hypothalamic and pituitary). These conditions affect both sexes and are characterised by hypogonadotrophic hypogonadism. In majority of cases central infertility is produced by recessive mutations of hormone or hormonal receptor genes. In some cases the infertility is a component of a specific syndrome.

Chromosome Aberrations↗

PubMedDate not supplied

[Osler--Rendu Disease: an example of a family clustering in a genetic disorder].

The case of a 75 years old woman with hereditary hemorrhagic telangiectasia (HHT) is presented. This condition is an autosomal dominant mucocutaneous and visceral fibrovascular dysplasia in which telangiectasia, arteriovenous malformations and aneurysms may be widely distributed throughout the cardiovascular system. It is usually recognized as a "triad" of telangiectasia, recurrent epistaxis and a family history of the disorder.

Aged↗

PubMedDate not supplied

[2 cases of Lowe syndrome].

Löwe syndrome is a form of X-linked mental retardation with short stature, cataracts, renal tubular dysfunction and hypotonia. We present 2 cases to illustrate this rare entity, but also to discuss the suggestive aspect of the face and to underline the importance of molecular tests for genetic counselling. Both cases associate ocular, cerebral and renal defects. Molecular tests changed the recurrence risk in the first family.

Facies↗

PubMedDate not supplied

In vivo cytogenetic screening for determination of the mutagenic potential of cyclophosphamide.

Among the in vivo cytogenetic tests employed for chemically induced mutagenicity, a recent screening method was selected - the micronucleus test. The micronuclei were investigated, comparatively with chromosome breaks, on the bone marrow of Wistar rats after intraperitoneal administration of different doses of Cyclophosphamide (CY) applied in one or two injections at 24 hrs interval. The good relationship between these two tests was proved in evaluation of cytogenetic risk.

Animals↗

PubMedDate not supplied

[Considerations regarding one particular case of Rett syndrome].

Rett syndrome is a form of X-linked mental retardation limited to females, expressed by postnatal microcephaly, moderate/severe mental retardation and prominent autistic features. We present a case to illustrate this rare entity, but also to discuss the suggestive behaviour and to underline the importance of diagnostic criteria. Our case associates porencephaly and positive CMV test that raised diagnostic difficulties in the beginning.

Abnormalities, Multiple↗

PubMedDate not supplied

[Hereditary lymphedema (Nonne-Milroy-Meige syndrome) associated with chylothorax. Comments on 2 cases].

This paper presents a family case of brother and sister with unilateral lymphedema, set off spontaneously at prepuberty and earlier in the boy. They both developed a unilateral chylothorax at the age of 22-24. No congenital anomalies are present. The clinical and paraclinical data exclude forms of secondary lymphedema as well as the ones associated with gonadal dysgenesis. The family case history reveals that the parents are not kindred, appear healthy, without pulmonary complaints. Neither no other cases similar to the patients described nor other congenital anomalies or genetic diseases have been recorded in the family. The peculiarity of the cases consists in the fact that lymphedema is confined only to the left lower limb and that there are no modifications in the parents, suggesting an autosomal recessive transmission, which would be a pathogenic novelty. The association with chylothorax points to the importance of a thorough evaluation of the patient with lymphedema of the lower limb.

Adult↗

PubMedDate not supplied

[The incidence of conjugal sterility of endocrine origin].

During a 14-year interval, 27,000 patients were admitted to the Endocrinological Clinic of Iaşi, of whom 337 (207 women and 130 men) for sterility. The endocrine disturbances that may induce sterility are reviewed.

Endocrine System Diseases↗

PubMedDate not supplied