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R Alberti

Publications and source records attributed to R Alberti.

27 records · Page 2Linked to original sources
PubMed1977

Hemoglobin Gavello - alpha 2 beta 2 47 (CD6) Asp replaced by Gly. A new hemoglobin variant from Polesine (Italy).

During a survey for abnormal hemoglobins in Polesine (a region north of the Po river, where beta-thalassemia is very frequent) a slow moving variant was noted in a 79-yr-old woman living in Gavello, a small town in the province of Rovigo. Structural studies demonstrated a previously undescribed amino acid substitution, beta47 Asp replaced by Gly. This new variant has been named Hb Gavello.

Aged↗
PubMed1975

Haemoglobin Hasharon in a north Italian community.

A survey of haemoglobin variants undertakin in an Italian community (Polesine) has revealed the presence of haemoglobin Hasharon (alpha2 47 Asp yields His beta2) in 108 subjects from 40 families. The variant accounted for 30 to 40% of the total haemoglobin. In subjects doubly heterozygous for Hb Hasharon and beta thalassaemia, the proportion was 17 to 19%. Though there was some evidence that the variant was unstable in vitro, there was no obvious haemoglobinopathy in vivo.

Amino Acids↗
PubMedDate not supplied

[Problems of development and care of children born with selected congenital malformations: Down's syndrome, cardiopathy, cleft lip and palate, clubfoot].

In connection with the surveillance programme of congenital malformations in Emilia Romagna led by I.M.E.R. Group since 1978 a crosswise survey has been performed on selected malformations: Down's syndrome, cardiac defects, unilateral or bilateral cleft lip and/or palate, unilateral or bilateral club foot. This survey has been useful as a pilot-study for another longitudinal survey which had a place in the programmes of the C.N.R. (National Research Council). By means of a multi-discipline approach we have collected information both of pediatric and of psycho-social character. A total of 187 children with the above named malformations were recorded at birth, 106 boys and 81 girls, aged from 9 months to 4 years. The neonatal diagnosis was confirmed in 84 out 86 cases under study. The rate of infant mortality was particularly high among children with heart defects (39.1%) and Down children (27.4%). The surgical centres where these children were operated upon, through with large variations in connection with the type of malformation, were in Emilia Romagna (49%), outside it (40%), and abroad (10.9%). As for the parental reaction to the birth of babies with congenital malformations, it was of initial rejection 5 cases of Down children, 3 cases of cardiopathy and 1 case of cleft lip and palate. Later the refusal was permanently confirmed only in 2 cases of Down children (who were subsequently adopted). The birth of a malformed baby has affected the relationship between husband and wife contributing to the separation in 3 cases of Down's syndrome and in 1 case of cardiopathy.

Child↗