PubMed Health⌕ Search

Biomedical subjects

M Travi

Publications and source records attributed to M Travi.

27 records · Page 2Linked to original sources
PubMed1987

Combined use of DNA probes in first-trimester prenatal diagnosis of hemophilia A.

First-trimester prenatal diagnoses of hemophilia A were heretofore obtained by using either intragenic factor VIII markers or linked extragenic polymorphic markers. Postulating that the combined use of all the available intragenic and extragenic markers can render such diagnoses more frequently feasible and more reliable, we carried out ten first-trimester prenatal diagnoses in male fetuses at risk for hemophilia A by DNA analysis of chorionic villus employing in combination the intragenic Bcl I polymorphism and the St 14 (DXS 52) or DX 13 (DXS 15) extragenic probes. A diagnosis of hemophilia was obtained in three fetuses, with a diagnosis of normal fetus obtained in the remaining seven. Seven diagnoses are confirmed by factor VIII assays carried out at the time of abortion, in the mid-trimester or at birth. A factor VIII probe recognizing Bcl I polymorphism was useful in 4 of 6 diagnoses; St 14, in 5 of 6; and DX 13 in 3 of 5. In two cases, St 14 was the only useful probe for diagnosis. Even though no recombination between extragenic probes and factor VIII gene was detected in this study, when only extragenic markers were informative we advised diagnostic confirmation on fetal plasma obtained by fetoscopy. Hence, first-trimester prenatal diagnosis of hemophilia A is feasible for the great majority of fetuses at risk through combined use of all the available intragenic and extragenic probes, providing key family members are available.

Adult↗
PubMed1984

Antenatal diagnosis of haemoglobinopathies by improved method of isoelectric focusing of haemoglobins.

An improved method of isoelectric focusing (IEF) of haemoglobins, utilizing a spacer molecule to increase the separation between HbA and acetylated HbF, was carried out in parallel with carboxymethylcellulose (CMC) chromatography in 85 antenatal diagnoses for haemoglobinopathies (mainly thalassaemia). In 19 of 21 affected fetuses no HbA band was detectable on IEF while in two a very faint band was observed; in heterozygotes or normal fetuses a more obvious HbA band was present. Moreover, IEF was useful for the demonstration of HbLepore in two cases at risk for beta-thalassaemia/ HbLepore and for interpreting a radioactive pre-beta globin peak on CMC chromatography. Pure fetal blood is needed for IEF. It can therefore be used for most cases in centres using fetoscopy for fetal blood sampling. About 80% of antenatal diagnosis of haemoglobinopathies may be carried out by IEF which is a very simple, rapid and inexpensive method.

Female↗
PubMed1978

[Current problems in diagnosis and screening of thalassemia (author's transl)].

The diagnosis of different forms of thalassemia, considering the genetic variant giving different hematological pattern, is discussed. The laboratory tests useful for this diagnosis and mainly the most recent techniques are particularly considered for their specificity and convenience. The problems of screening with special consideration for health education, laboratory tests and different social and psychological aspects are treated.

Anemia, Hypochromic↗
PubMedDate not supplied

[Family burden in schizophrenia: effects of socio-environmental and clinical variables and family intervention].

OBJECTIVE: Description of burden, attitudes and received professional support in a sample of relatives of patients with schizophrenia recruited in 8 Italian Mental Health Services (MHS), stratified by geographic areas and population density. DESIGN: Cross-sectional study on key-relatives of clinically stable patients with a DSM-IV diagnosis of schizophrenia. Evaluation of: a) relationships of family burden with patient's clinical characteristics, family's socio-demographic variables, relative's attitudes toward the patient, professional and social support received by the family; b) differences in the levels of burden, attitudes and support received by the family with respect to geographical area and population density. SETTING: 8 Italian MHS stratified by geographic areas (Northern, Central, Southern Italy) and population density (urban vs. rural areas). MAIN OUTCOME MEASURES: Patient's clinical status and social functioning: BPRS and ADC. Family burden, attitudes and support received by the family: FPQ. RESULTS: Data on 144 patients and their key-relatives were collected. Higher levels of burden were found among relatives referring to Southern MHS. The burden was found positively correlated with the levels of patients' BPRS positive and manic/hostility symptoms and disability, and with the number of daily hours spent by the relative in contact with the patient, and negatively correlated with the levels of professional support received by the family. CONCLUSIONS: The results of this study highlight the need to provide rehabilitative programmes for patients with schizophrenia as well as informative and psychoeducational interventions for their families.

Adolescent↗
PubMedDate not supplied

Globin chain synthesis analysis by high performance liquid chromatography in the screening of thalassemia syndromes.

We applied reversed phase high performance liquid chromatography for globin chain synthesis analysis in screening for beta-thalassemia. The alpha/non-alpha-globin chain synthesis ratios have been determined in alpha-, beta-, and deltabeta-thalassemia carriers using the classical carboxymethyl cellulose chromatography as the reference method. Reversed phase high performance liquid chromatography is fast, accurate, and reproducible, and may be a suitable alternative for the traditional carboxymethyl cellulose chromatography.

Carboxymethylcellulose Sodium↗
PubMedDate not supplied

[Prenatal diagnosis of hemoglobinopathies in the 1st and 2nd pregnancy trimesters].

Fetal diagnosis of haemoglobinopathies, mainly thalassaemia, is widely used for the prevention of these diseases. Since 1975 fetal diagnosis has been carried out in the second trimester of pregnancy (18th - 22th week) on fetal blood samples obtained by fetoscopy or placentocentesis. The biochemical technique most commonly employed has been represented by carboxymethylcellulose chromatography and more recently in our center by isoelectric focusing of haemoglobins which is a faster and cheaper technique. First-trimester fetal diagnosis is now feasible by DNA analysis on chorionic villi. The Milan center experience in second trimester fetal diagnosis of haemoglobinopathies on more than 300 cases and the preliminary data on first trimester diagnosis are reported.

Blood Specimen Collection↗