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F Zappulla

Publications and source records attributed to F Zappulla.

At least 19 recordsLinked to original sources
PubMed2000

CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region.

OBJECTIVES: We have genotyped the patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency identified from March 1980 to December 1997 through a combined program of neonatal screening and case survey in the Emilia-Romagna Region (Italy). We have also analysed retrospectively the possible advantages of genotypical neonatal classification. DESIGN: A 'phase A' of screening and clinical monitoring (March 1980-September 1983 and March 1991-December 1997) and a 'phase B' of clinical monitoring only (October 1983-February 1991) were taken into account. PATIENTS: A total of 61 patients (20 salt wasting, nine simple virilizing and 32 nonclassical forms) were genotyped, HLA typed and hormonally tested to understand better the genotype/phenotype relationship and the epidemiology and geographical distribution of associated mutations. The fully genotyped patients were classified into four mutation groups according to the degree of enzymatic activity ('null' and 'A' to 'C'). RESULT: The most frequent genotype alterations were deletion (24.1% classical, 3.3% nonclassical forms), large gene conversion (9.2% classical, 1.7% nonclassical forms), In2 splice (27.7% classical, 15.0% nonclassical forms), I172N (5.5% classical, 10.0% nonclassical forms), V281L (3.7% classical, 43.3% nonclassical forms), P453S (5.0% nonclassical forms). A significant difference (chi2 = 5.101; P < 0.025) in the distribution of classical genotypes was found in Romagna (south-east; incidence 1 : 7437 newborns) compared to Emilia (north-west; incidence 1 : 25 090 newborns). Two putative new mutations were found in our population. Little discrepancy was found between genotype and phenotype. CONCLUSIONS: The high frequency of genotypes 'null' or 'A' in the 'phase A' vs. 'phase B' of our study confirms the usefulness of neonatal screening in preventing the death of male patients with salt wasting forms. The substantial similarity in the mutational spectrum of classical forms found in our study, based on the detection of all the classical patients of a specific area, leads us to believe that the distribution of mutations is due to the inherent characteristics of the gene locus, and that regional effects play a minor role. Prompt neonatal genotyping can be of valuable diagnostic assistance in neonatal screening for the confirmation of the diagnosis in newborns with moderately elevated 17 hydroxyprogesterone levels.

Adolescent↗
PubMed1998

[Results of screening of congenital hypothyroidism and iodine excess in neonatal age].

We evaluated the distribution of TSH levels on dried blood spots (Delfia system-threshold value for recall 20 microU/ml) in 27,282 consecutive samples examined during 1993, in the Emilia-Romagna region. We also evaluated, by questionnaire, the frequency of iodine disinfection in the perinatal period in all centers that do blood spots. We also evaluated the distribution of TSH spot values according to the localization of the center in endemic or not endemic area of the region. Among the parameters we considered, only the sampling day (p < 0.02) and the maternity center (p < 0.0001) showed a significant influence on TSH spot values. With regard to the questionnaire, the centers which habitually used iodine disinfection in obstetrics (20/28) showed significantly higher percentages of TSH values over 10 microU/ml than the centers which did not use (3/28) or rarely used (4/28) this type of disinfection (p < 0.0001). The only center which used regular iodine disinfection of umbilical cord in all newborns, showed a percentage of TSH values over 10 microU/ml (25.8%) and a recall rate (2.5%) significantly higher than all other centers (p < 0.0001).

Anti-Infective Agents, Local↗
PubMed1996

Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995.

OBJECTIVE: Comparative study of the incidence of classic 21-hydroxylase deficiency congenital adrenal hyperplasia (21ase-def CAH) and clinical findings of affected infants diagnosed via newborn screening versus case survey only in the Emilia-Romagna region of Italy. METHODS: Neonatal mass screening (from March 1980 to September 1983-Period A, and from March 1991 to August 1995-Period C) and case survey study (from 1980 to June 1995; case survey alone from October 1983 to February 1991--Period B) were performed by the Regional Referral Center for Neonatal Screening for Endocrine-Metabolic Disease with a laboratory (Central Laboratory, S. Orsola Hospital, Bologna) and clinical (First Pediatric Clinic, University of Bologna, S. Orsola Hospital, Bologna) component. A population-based sample of 420 960 newborns consecutively born in the Emilia-Romagna region from March 1980 to August 1995 were studied. Spot 17-OH-progesterone (nmol/L blood) was tested by the radioimmunoassay method after sample extraction during Period A and by fluoroimmunometric time resolved method without sample extraction during Period C. Serum 17-OH-progesterone (ng/dL or nmol/L) was tested by the radioimmunoassay method (Diagnostic Product Corporation Kit, Los Angeles, CA). The case survey was performed by means of a questionnaire sent to all regional centers dealing with pediatrics, neonatology, endocrinology, and pediatric surgery. RESULTS: Thirteen classic 21ase-def CAH were diagnosed by means of neonatal screening (combined A and C periods). One true and one questionable false-negative cases were identified. The incidence of classical 21-hydroxylase deficiency for the white population was 1:15 518 (95% confidence limits 1:9249-1:28 400) by neonatal screening plus case survey, 1:18 105 (95% confidence limits 1:10 365-1:35 041) by neonatal screening alone and 1:25 462 (95% confidence limits 1:12 925-1:59 043) by case survey alone. The sensitivity and specificity of screening for classic CAH were 83% and 99.8% for Period A and 90% and 99.2% for Period C, respectively. The percentage of salt-wasting forms and the male/female ratio were higher during the neonatal screening period than during the case survey only. Sixty-one percent of classic CAH patients benefited from a prompt diagnosis. Nonclassical 21ase-def CAH cases detected via screening and case survey were also reported. CONCLUSIONS: Even in a region with adequate neonatal services, clinical diagnosis alone of classic CAH might be delayed or misinterpreted and salt-wasting crises could cause neonatal deaths. CAH screening is thus an effective tool for diagnosing affected male infants without a family history of CAH and for preventing salt loss. However, to achieve maximal benefit from screening, quick procedures are necessary for notification of positive results and beginning prompt treatment. The possibility of false-negative cases indicates that clinical observation should never be abandoned, even with ongoing screening programs.

17-alpha-Hydroxyprogesterone↗
PubMed1993

[Diagnosis of gastro-esophageal reflux in children. Ultrasonography versus pH monitoring].

The reliability of ultrasonography (US) was investigated in the diagnosis of gastroesophageal reflux in the pediatric patient. Therefore, specificity and sensitivity of US were compared with those of a 24-hour pH monitoring. A hundred and twenty-nine patients were examined; their age ranged 38 days to 14 years (56 were under and 73 over 2 years old). Since these patients presented with gastroesophageal symptoms, they underwent both pH monitoring and US. The results of the two methods were in agreement in 79.8% of the cases. Notably, in the age group ranging 0 to 2 years, US exhibited greater sensitivity (87% vs. 78.8%) and slightly lower specificity (76.5% vs. 81.1%) than in the age group ranging 2 to 14 years. The greater sensitivity in the 0-2 age group can be explained by physiological factors (which are typical of the first months of life) as well as by technical factors. Therefore, in infants, US should be combined with pH monitoring to identify the cases which are unquestionably pathological. The high specificity in the children over 2 years of age could justify the use of US alone in this group of patients for both diagnosis and follow-up, while pH monitoring might be used only in the most severe and/or complicated cases. The results suggest that, in the two age groups considered, abdominal US can be used not only as the diagnostic method of choice in the study of gastroesophageal reflux, but also as an extremely useful tool during follow-up when therapeutic monitoring is also needed.

Adolescent↗
PubMed1990

Effects of sport (football) on growth: auxological, anthropometric and hormonal aspects.

There are very few data available on the relationship between sporting activities, endocrine levels and changes in anthropometric measurements during growth. In order to study these relationships, we have made measurements of growth, changes in physical conformation and the plasma levels of several hormones [cortisol, dehydroepiandrosterone sulphate (DHEA-S), testosterone, growth hormone, somatomedin C, insulin, glycaemia and haemoglobin A1C] in 175 boys, aged 10-16 years, who have played football at a competitive level and in 224 boys, severing as controls, who have never performed sporting activities regularly. The football players were divided into prepubertal and pubertal subjects (10-11.99 years, 12-13.99 years and 14-16 years, chronological and bone age groups). Our results showed no significant differences in the growth indices between prepubertal athletes and controls, but the plasma level of DHEA-S was significantly higher (P less than 0.05) in the athletes. Pubertal football players, however, were significantly taller than the control subjects, particularly at 14-16 years chronological age. There were no such significant differences when bone age was considered. The pubertal football players were also more advanced in all biological indices of maturity, i.e. pubic hair, testicular volume and bone age. The increase in DHEA-S in pubertal football players, already seen in prepubertals, was also combined with a significant increase in testosterone, growth hormone and cortisol levels. Thus, in football players the DHEA-S level is already higher during prepuberty. This increase thus precedes all other indices of growth and maturation associated with puberty. We hypothesize that, while not excluding the possible influence of selection, as ours is a cross-sectional study, adrenal hyperactivity may be mainly responsible for the earlier onset of pubertal growth and maturity in exercising males.

Adolescent↗
PubMed1983

How many cases of true precocious puberty in girls are idiopathic?

Fifteen girls with true precocious puberty were examined by computerized tomography. In seven hypothalamic hamartomas were suspected. A pneumoencephalogram was performed in six cases (one patient refused), with the following results. In five, the radiological features were highly suggestive of tuber cinereum hamartoma. All of our patients with pubertal signs appearing before the age of 2 years and 80% of the girls with early menstruation were in the group with suspected hamartoma. The luteinizing hormone and follicle-stimulating hormone levels of these five girls were significantly higher than those observed in the other girls with idiopathic precocious puberty. We conclude that there is a high frequency of small hypothalamic masses (suspected hamartoma) in girls with true precocious puberty (33% of the patients in our group), that it is important to confirm the presence of the mass with pneumoencephalography, and that surgery for diagnostic and therapeutic purposes should be carefully considered, given the absence of any neurologic symptoms for a long time after the appearance of the first pubertal signs.

Child↗
PubMed1983

Neonatal screening for congenital adrenal hyperplasia.

Capillary blood samples from 42930 infants born in the Italian region of Emilia-Romagna were collected for 17-hydroxyprogesterone radioimmunoassays on days 2, 3, 4, 5, 6, and 7, or between days 7 and 15 of life. A microfilter paper method modified from that of Pang et al.1 was used for this assay. Pathologic values of 17-hydroxyprogesterone were found in 5 infants giving an incidence in this homogeneous Caucasian population of 1:8586. We also investigated 17-hydroxyprogesterone values in relation to the day of sampling and the possible correlation between 17-hydroxyprogesterone values and birthweight and gestational age. We concluded that neonatal screening for congenital adrenal hyperplasia caused by 21-hydroxylase deficiency was possible by this method and that the infants' maturity and the particular day of collection of the samples affect the values but not the validity of the screening.

17-alpha-Hydroxyprogesterone↗
PubMed1982

Hemostatic balance alterations in obese children.

Fibrinolytic response to venous occlusion and other clotting parameters were studied in 34 obese children and 16 controls. The obese children (mean age 9 2/12 years) had a mean overweight of 51.8% +/- 15.6, higher blood glucose and cholesterol levels, and increased baseline and glucose-induced insulinemia. However, baseline ELT did not differ significantly; ELT after 5 min venous occlusion was 203.2 +/- 110.9 min in the obese children and 114.7 +/- 67.9 min in the control group (p less than 0.01) with a mean percent decrease respectively of 14.9% and 29.2%. Poor fibrinolytic responders did not correlate with age, overweight, or metabolic indices. Lower levels of ATIII (p less than 0.01) and no changes in F VIII: C and F VIII: R Ag were also found in the obese. Furthermore, in a larger group of 84 prepubertal obese children (mean age 10 years; mean overweight 48.2%) and in 39 normal prepubertal children (mean age 10 4/12 years) we also studied platelet aggregation capacity according to Breddin. This parameter was altered in a high proportion of the obese children (p less than 0.05). The obese children were also poor fibrinolytic responders, similarly to obese adults, and exhibited early alteration of the clotting balance.

Antigens↗