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G Cocchi

Publications and source records attributed to G Cocchi.

At least 37 records · Page 2Linked to original sources
PubMed1988

Epidemiological and genetic study of 200 cases of oral cleft in the Emilia Romagna region of northern Italy.

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.

Cleft Lip↗
PubMed1988

Radioactivity in breast milk and placentas during the year after Chernobyl.

After the April 1986 nuclear reactor accident at Chernobyl in the Union of Soviet Socialist Republics, samples of human placenta and breast milk were tested for 1 year to determine the levels of radioactivity. The radionuclide iodine 131 was never beyond the detection limit of our gamma detector for both matrices. As to cesium isotopes 134 and 137, the highest levels detected in breast milk (6 Bq.L-1) and placenta (15.8 Bq.kg-1) were recorded in March 1987. Study data for breast milk and placenta are in agreement with the values calculated by means of double-compartment food-milk and food-placenta models. With regard to placental content, the cesium contribution to the average dose during the year after the Chernobyl accident was calculated to be 40 to 60 microSv.

Accidents, Occupational↗
PubMed1987

Congenital malformations in 100,000 consecutive births in Emilia Romagna region, northern Italy: comparison with the EUROCAT data.

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.

Abnormalities, Multiple↗
PubMed1986

Neonatal medical problems.

The scope of clinical problems presented to the neonatologist by the antenatal diagnosis of a central nervous system anomaly is presented. The possibility of a missed fetal diagnosis and the need for careful clinical examination and judicious use of other diagnostic means are also stressed.

Central Nervous System↗
PubMedDate not supplied

An international collaborative study of the epidemiology of esophageal atresia or stenosis.

Epidemiologic data were analyzed for a total of 2,693 infants with esophageal atresia registered in nine congenital malformation registries around the world. The average recorded prevalence at birth was 2.6 per 10,000 births, with a significant variability among programs--and sometimes within a program--and a maximum prevalence of above 3 per 10,000 births. Clusters of infants with esophageal atresia were observed but may be random. An increasing rate was seen during the period 1965 to 1975 (Norway, South America, Sweden). The type of esophageal atresia was specified in only 439 cases, but no major differences were seen in the epidemiologic characteristics of infants with the most common type (distal fistula) and infants with other types. There was an excess of low birth weight and preterm birth, and infants with esophageal atresia had a birth weight 500 to 1,000 g less than normal infants in each gestational week. There was an excess of twins, apparently mainly or exclusively due to monozygotic twinning, but in only two pairs did both twins have esophageal atresia. There was no effect seen of maternal age, but low parity, irrespective of maternal age, was associated with an increased risk for esophageal atresia. Infant survival varied among programs and depended heavily on associated malformations. Among 1,107 sibs born before the proband and 385 born after the proband, only 25 (1.7%) had a serious malformation; three had esophageal atresia. In 57.3% of the infants with esophageal atresia, no other malformations were present, in 36.4% other major malformations were recorded, and in 6.3% there were chromosomal anomalies. The malformations present associated with esophageal atresia were analyzed: a large proportion entered the constellation sometimes called "caudal mesoderm spectrum of malformations": VATER, Potter, and caudal regression sequences.

Birth Weight↗
PubMedDate not supplied

On the symmetry of limb deficiencies among children with multiple congenital anomalies.

In humans, unpaired organs are placed in a highly ordered pattern along the left-right axis. As indicated by animal studies, a cascade of signaling molecules establish left-right asymmetry in the developing embryo. Some of the same genes are involved also in limb patterning. To provide a better insight into the connection between these processes in humans, we analysed the symmetry of limb deficiencies among infants with multiple congenital anomalies. The study was based on data collected by the International Clearinghouse for Birth Defects Monitoring Systems (ICBDMS). Registries of the ICBDMS provided information on infants who, in addition to a limb deficiency, also had at least one major congenital anomaly in other organ systems. We reviewed 815 such cases of which 149 cases (18.3 %) were syndromic and 666 (81.7 %) were nonsyndromic. The comparisons were made within the associated limb deficiencies, considering the information on symmetry, using a comparison group with malformations associated not involved in the index association. Among the non-syndromic cases, the left-right distribution of limb deficiencies did not differ appreciably between limb deficiency subtypes (e.g., preaxial, transverse, longitudinal). The left-right distribution of limb anomalies did not differ among most types of non-limb anomalies, though a predominance of left-sided limb deficiencies was observed in the presence of severe genital defects - odds ratio [OR], 2.6; 95 % CI, 1.1-6.4). Limb deficiencies (LDs) were more often unilateral than bilateral when accompanied by gastroschisis (OR, 0.1) or axial skeletal defects (OR, 0.5). On the contrary, LDs were more often bilateral than unilateral when associated with cleft lip with or without cleft palate (OR, 3.9) or micrognathia (OR, 2.6). Specifically, we found an association between bilateral preaxial deficiencies and cleft lip, bilateral amelia with gastroschisis and urinary tract anomalies, and bilateral transverse deficiencies and gastroschisis and axial skeleton defects. Of 149 syndromic cases, 62 (41.6 %) were diagnosed as trisomy 18. Out of the 30 cases of trisomy 18 with known laterality, 20 cases were bilateral. In the remainder the right and left sides were equally affected. Also, in most cases (74.4 %) only the upper limbs were involved. In conclusion the left-right distribution of limb deficiencies among some non-limb anomalies may suggest a relationship between the development of the limb and the left-right axis of the embryo.

Abnormalities, Multiple↗
PubMedDate not supplied

Bone pulsating metastasis due to hypernephroma.

Bone pulsating metastasis due to hypernephroma is an exceptional occurrence. The authors present one case of bone pulsating metastasis due to hypernephroma localized in the proximal tibia. The primary renal lesion was located by ultrasonography and confirmed by CT scan.

Aged↗
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↗