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ABSTRACT: In 13 subjects affected by β-thalassaemia major, in three subjects affected by β-thalassaemia minor and in five normal healthy persons haemoglobin synthesis and the survival of red cells transfused into normal, group compatible, healthy recipients has been studied. The existence of an excess of newly synthesized α-chains and of a negative correlation between the excess α-chain and the red-cell survival has been demonstrated. The harmful role of the α-chain excess on the erythrocyte and the implications of this finding are discussed.
British Journal of Haematology 03/2008; 16(1):25 - 30. · 4.94 Impact Factor
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M Clementi,
R Tenconi,
F Bianchi,
L Botto,
A Calabro,
E Calzolari,
D Cianciulli,
I Mammi,
P Mastroiacovo,
P Meli,
A Spagnolo,
L Turolla, S Volpato
Birth defects original article series 02/1996; 30(1):413-24.
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ABSTRACT: Epidemiological and genetic variables for oral clefts were analysed for the years 1981-1989 in a case-control study of congenital malformations in the Emilia Romagna, Veneto, and Friuli regions, and in the Trento and Bolzano hospitals. Birth prevalence for all cases of cleft lip with or without cleft palate (CL(P)) was 8.2 per 10,000 births, and that for cleft palate only (CP) was 6.1 per 10,000. Coexisting abnormalities were found in 23% of CL(P) cases and in 43% of CP. No clusters in time or space were detected. For isolated clefts, a predominance of males among CL(P) and of females among CP was found; epilepsy was the only maternal risk factor correlated with clefts, and an association between clefting and consanguinity was found. Empirical recurrence risks were calculated in both isolated CL(P) and CP.
European Journal of Epidemiology 07/1994; 10(3):317-24. · 4.71 Impact Factor
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ABSTRACT: Epidemiological and genetic variables for oral clefts were analysed for the years 1981–1989 in a case-control study of congenital malformations in the Emilia Romagna, Veneto, and Friuli regions, and in the Trento and Bolzano hospitals. Birth prevalence for all cases of cleft lip with or without cleft palate (CL(P)) was 8.2 per 10,000 births, and that for cleft palate only (CP) was 6.1 per 10,000. Coexisting abnormalities were found in 23% of CL(P) cases and in 43% of CP. No clusters in time or space were detected. For isolated clefts, a predominance of males among CL(P) and of females among CP was found; epilepsy was the only maternal risk factor correlated with clefts, and an association between clefting and consanguinity was found. Empirical recurrence risks were calculated in both isolated CL(P) and CP.
European Journal of Epidemiology 05/1994; 10(3):317-324. · 4.71 Impact Factor
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ABSTRACT: During 1984-1989, 116 cases of omphalocele and 42 cases of gastroschisis were detected among 736,760 consecutive births in the area covered by five Italian congenital malformation registries. The prevalence rate was 1.6 per 10,000 for omphalocele and 0.6 per 10,000 for gastroschisis. Three additional cases were detected among spontaneous abortions, giving a total of 117 cases of omphalocele and 44 of gastroschisis. No variations in prevalence rates were observed among registries. A cluster of omphalocele was found in 1989 in Firenze. All cases were sporadic except for one infant with two sibs with Beckwith-Wiedemann syndrome. A predominance of male infants was observed for both defects. This study confirms the very young maternal age for isolated gastroschisis as compared to that for omphalocele and controls. Birth weight and the percentage of small-for-date is different among isolated gastroschisis, omphalocele and controls. Associated anomalies occurred in 45 cases of omphalocele and 11 cases of gastroschisis. Our data confirm the association of omphalocele with trisomies 13 and 18. Twelve cases of omphalocele and gastroschisis with associated limb defects were classified as limb body wall complex. The possible differences in etiopathology between omphalocele and gastroschisis, both isolated and associated, are discussed.
Teratology 02/1993; 47(1):47-55.
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ABSTRACT: The development of the infant faecal flora was studied over the first three months of life in infants receiving breast milk, a modern adapted formula and adaptations of this formula. Breast-fed infants developed a flora rich in Bifidobacterium sp. Facultative anaerobes were ubiquitous, but in relatively small numbers within the diet group. Other obligate anaerobes, such as Clostridium sp. and Bacteriodes sp. were rarely isolated. Standard formula produced a flora rich in bifidobacteria, but the growth of facultative organisms was not suppressed by this diet. Clostridium sp. and Bacteroides sp. were more common in this feeding group. After the addition of lactoferrin at 10 mg/100 ml to the formula diet, a flora similar to that of the standard formula-fed babies was achieved. Lactoferrin at 100 mg/100 ml was able to establish a "bifidus flora" in half of the babies given this formula, but only at age three months. Clostridium sp. and Bacteroides sp. were common faecal isolates from babies receiving both the lactoferrin diets.
Acta Paediatrica 03/1992; 81(2):119-24. · 2.07 Impact Factor
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ABSTRACT: Percentile charts of neonatal length, weight, head circumference, and weight/length squared have been constructed using data based on 688 consecutive newborn infants with Down Syndrome and 6,890 normal newborn infants (control group) registered in the congenital malformation registers of North-East Italy and the Emilia-Romagna Region. All percentiles of growth variables are lower in Down syndrome than in the control infants, except for the weight/length2 percentiles, suggesting that growth in Down syndrome is prenatally reduced; overweight begins after birth.
American journal of medical genetics. Supplement 02/1990; 7:71-4.
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ABSTRACT: Epidemiological and genetic variables in clefts were analyzed during the years 1978-1986 in a case-control study of congenital malformations in the Emilia Romagna region of northern Italy. Among 150,168 newborns, 200 cases of cleft were detected, yielding a prevalence of 1.33 per 1,000. These clefts consisted of 112 (0.075%) cases of cleft lip with or without cleft palate (CL +/- P) and 88 cases (0.058%) of cleft palate (CP). Coexisting abnormalities were found in 32% of cases. The heritability coefficient of CL +/- P was 0.84. No cluster in time or space could be demonstrated. Epilepsy was the only maternal risk factor found to be correlated with clefts. A predominance of males was found among CL +/- P cases.
Teratology 01/1989; 38(6):559-64.
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Journal of Medical Genetics 04/1988; 25(3):211-2. · 6.36 Impact Factor
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ABSTRACT: A population based Congenital Malformations Registry has been established in the Emilia Romagna region of northern Italy. From the 1st of January 1978 to the end of 1984, 103,484 births were monitored, and 1914 babies with one or more congenital abnormalities were registered producing a rate of 1.85 per cent. The total number of malformations registered was 2,412 (2.3%). The rates of selected groups of malformations (isolated and in association with other defects) are presented and compared with rates derived from the EUROCAT study.
European Journal of Epidemiology 01/1988; 3(4):423-30. · 4.71 Impact Factor
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ABSTRACT: A population based Congenital Malformations Registry has been established in the Emilia Romagna region of northern Italy.From the 1st of January 1978 to the end of 1984, 103,484 births were monitored, and 1914 babies with one or more congenital abnormalities were registered producing a rate of 1.85 per cent. The total number of malformations registered was 2,412 (2.3%).The rates of selected groups of malformations (isolated and in association with other defects) are presented and compared with rates derived from the EUROCAT study.
European Journal of Epidemiology 11/1987; 3(4):423-430. · 4.71 Impact Factor
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ABSTRACT: Epidemiological and genetic variables in hypospadias were analysed during the years 1978 to 1983 in a case control study of congenital malformations in the Emilia Romagna region of northern Italy. During the observation period, in a sample of 41 078 male newborns, 168 had hypospadias giving a prevalence at birth of 4.1 in 1000 males. Hypospadias was divided into three types: type I or mild (75.0%); type II or moderate (21.4%); and type III or severe (3.6%). Coexisting malformations were found in 8.9% of cases. The heritability coefficient was 0.669. Maternal risk factors correlated with hypospadias were found to be early age at menarche, threatened abortion, and exposure to progestins. Low birth weight and shorter gestation were also correlated with hypospadias.
Journal of Medical Genetics 09/1986; 23(4):333-7. · 6.36 Impact Factor
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ABSTRACT: The role of early diagnosis on the short-term prognosis of 55 infants with gastrointestinal tract malformations admitted to three neonatal intensive care units is reviewed. In this series antenatal diagnosis does not appear associated with better prognosis. The severity of the disorder and the association with other malformations are the most important determinants of outcome.
Fetal therapy 02/1986; 1(2-3):98-100.
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ABSTRACT: In order to evaluate the criteria for discontinuing neonatal anticonvulsant treatment, 55 newborns with seizures have been studied. Clinical and EEG serial examinations were performed: soon after the first seizure, throughout the hospital course, and during the follow-up every 3 months until a year, and every 6 months later on. Anticonvulsant treatment with phenobarbital was discontinued (at 4 days-19 months; mean 104 days) on the basis of the following variables: type and number of seizures, time taken for their control, type and persistence of EEG abnormalities, initial neurological features, and seizure etiology. At the follow-up (12 months-8 years; mean 36 months) only 4 children had relapsed, 3 of them with a single short seizure without EEG abnormalities. The results obtained by means of the correlation between the length of anticonvulsant treatment and the clinical and EEG variables provide evidence of the value of the criteria employed. Of these, the duration of persistence of EEG abnormalities was the most important for planning the maintenance of anticonvulsant treatment and its discontinuation.
Brain and Development 02/1983; 5(6):541-8. · 2.12 Impact Factor
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ABSTRACT: Plasma somatomedin (SM) activity was measured longitudinally in the first days of life by Van den Brande bioassay in 10 term, 8 premature and 5 small-for-date newborns. Other term, premature and small-for-date newborns were assayed between the 4th and 8th days by a cross-sectional-type study. A very significant increase in SM activity was observed in term newborns on the 3rd day lasting for about a week, when values usually observed in young children were reached. In premature and small-for-date newborns such an increase was not present but rather a slight decrease on the 3rd day was observed. The presence of a circulating inhibitory substance in the plasma of premature and small-for-date newborns with undetectable SM activity was shown.
Biology of the Neonate 02/1981; 39(3-4):160-4. · 1.90 Impact Factor
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ABSTRACT: Two cases of primary ring chromosome 2 and one case of a ring secondary to a paternal 2/6 translocation are described and compared with a fourth case of ring 2 from the literature. The breakpoints in two cases are identical and the same as the breakpoint on chromosome 2 in the composite 2/6 ring. The three primary rings have a number of symptoms in common, but other cases are needed to identify a possible deletion syndrome. The levels of the enzyme MDH-1 were within the normal range in Cases 1 and 2. Thus we localised the locus for MDH-1 to segment 2p23 leads to p25; this had previously been localised to segment p23 leads to pter.
Human Genetics 05/1979; 48(2):157-67. · 5.07 Impact Factor
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ABSTRACT: A five-year-old 48,XXYY boy with normal external genitalia, slight bone anomalies and mild mental retardation is described. An endocrine examination revealed normal values with the possible exception of a slight increase of the LH values and the LH response to LH-RH stimulation.
Journal de génétique humaine 01/1979; 26(4):411-7.
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Minerva pediatrica 05/1974; 26(14):743-57.
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Minerva pediatrica 09/1973; 25(28):1219-21.
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Nature: New biology 08/1972; 238(81):83-7.
