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Biomedical subjects

E Cacciari

Publications and source records attributed to E Cacciari.

At least 235 records · Page 13Linked to original sources
PubMedDate not supplied

Gonadal and adrenal secretion of dehydroepiandrosterone sulfate in prepubertal and pubertal subjects.

The Authors have evaluated the relationship between the secretion of dehydroepiandrosterone sulfate (DHA-S) by the adrenal glands and by the gonads in a group of prepubertal and pubertal subjects ("short normal"), both males and females. In the male subjects of a hCG test and an ACTH test were performed; in the female subjects only the latter test was carried out. The behavior of DHA-S under basal conditions was also assessed in both sexes and related to bone age and chronological age in the prepubertal period and during the early stages of puberty. Plasma levels of DHA-S in both sexes increase progressively with chronological age and bone age. A negative correlation was found between DHA-S and bone delay (expressed in percent relative to chronological age) in prepubertal subjects, both males and females. A significant increase in DHA-S after hCG stimulation was found both in prepubertal and pubertal boys. After ACTH stimulation DHA-S increased significantly in prepubertal and pubertal males and females; throughout the test no difference was found between prepubertal and pubertal subjects nor between male and female subjects. Our data confirm that DHA-S is produced both by the adrenals and by the testes.

Adolescent↗
PubMedDate not supplied

Neonatal screening for 21-hydroxylase deficiency: a microfilter paper method for 17-alpha-hydroxyprogesterone assay.

A micromethod for measuring 17 alpha-hydroxyprogesterone in blood collected on filter paper has been developed. Our method is rapid, easy and has the specificity, accuracy and precision of the radioimmunoassay in whole blood. The method has been applied for screening patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Fifty samples collected on filter paper were assayed by our method, using 125I as tracer, and results were compared with those obtained for the same samples using a tritium tracer. The agreement between the two methods was particularly good in the area ranging from 15 to 100 pg/disc. In one neonate the diagnosis of CAH was made utilizing the microfilter paper method. Our method is a promising screening test for CAH. An indication of the advantages or disadvantages of this type of screening will become available when an adequate number of infants has been examined.

Adrenal Hyperplasia, Congenital↗
PubMedDate not supplied

Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-Up of 136 nonpreselected patients.

The preferential association between Turner's syndrome and congenital heart defects (CHD) have been well known since the first description by Morgagni. There are few studies about the different cardiologic problems stemming from different chromosomal patterns of X monosomies. We reviewed a large series of 136 patients with Turner syndrome without cardiologic preselection, 29 of whom had some kind of CHD (21.5%). Partial anomalous pulmonary venous drainage (PAPVD; 2.9%), aortic valve disease (stenosis and/or incompetence) (AoVD; 5. 1%), aortic coarctation (AoCo; 4.4%), and bicuspid aortic valve (BicAo; 14.7%) are much more frequent in Turner's syndrome than in the normal population, with the difference being statistically highly significant. In our cases, only the 45, X subjects showed severe CHD and multiple lesions, whereas the X-ring pattern was associated with an elevated prevalence of BicAo. Patients with X-deletion showed no signs of congenital heart malformations. Eleven patients, all with 45, X pattern, and significant CHD, underwent cardiac surgery at a mean age of 7.7 +/- 5.3 years (range 7 days-18 years) without complications. At follow-up of 3-18 years (8.6 +/- 5. 2), we were unable to observe any type of evolution of the remaining untreated cardiovascular anomalies.

Adolescent↗
PubMedDate not supplied

Low serum inhibin B levels as a marker of testicular damage after treatment for a childhood malignancy.

UNLABELLED: The aim of this study was to evaluate the role of inhibin B and the determination of its concentration to diagnose testicular damage after treatment for a childhood malignancy. Thirty-seven males treated for Hodgkin disease (n = 11) or non-Hodgkin lymphoma (n = 26) were examined at a mean age of 16.9+/-2.9 years. Mean age at the stop of therapy was 11.3+/-3.0 years and in most cases the chemotherapy regimen included gonadal damaging alkylating agents. Thirty-three normal males (mean age 17.9+/-4.1 years) were examined as controls. Serum samples were collected for determination of inhibin B, follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone. Median inhibin values were significantly lower in patients than in controls (96.0 vs. 225.0 pg/ml, P<0.0001) and a strong negative correlation was found between inhibin B and FSH (r = -0.86, P<0.0001), a weak correlation with LH (r = -0.32, P<0.05) and no correlation with testosterone. In post-pubertal patients (i.e., over 16 years) a positive correlation was found between testicular size and inhibin level (r = 0.53, P<0.05), but not between testicular size and testosterone level. Pathological low levels (values that differed by more than 2 SD from the mean value of control subjects) were found in 20 patients for inhibin B and 8 for testosterone (P<0.01) and pathological high values in 19 patients for FSH and 3 for LH. CONCLUSION: This study confirms the role that inhibin B plays in the regulation of FSH secretion and provides further evidence of the utility of its evaluation as a direct indicator of male gonadal dysfunction.

Adolescent↗
PubMedDate not supplied

Modifications of metabolic control in type 1 diabetic children and adolescents: experience over the last 20 years.

The aim of this retrospective study was to verify whether the daily number of insulin injections could have affected metabolic control in 181 unselected diabetic patients (age 0.66-14.75 yr at onset of diabetes) followed in our clinic from the 1970s to the 1990s. They were evaluated regularly since onset of disease for a mean follow-up period of 6.8 years. The factor with the greatest effect on HbA1c levels was the year of disease onset, which was negatively correlated with HbA1c independently of the daily number of injections and disease duration. Disease duration showed an effect on metabolic control only in the first 5 years of disease. Daily insulin injections affected metabolic control above all as regards 1 vs 2 or more injections. Regarding the change in insulin regimen from 2 to 3-4 injections, there was an improvement in metabolic control in patients with HbA1c > 9% and a worsening in those with HbA1c < 7%/ After the first 5 years of the disease HbA1c levels were higher in adolescent patients than in both younger and older patients. In conclusion, increasing the daily number of injections does not seem in itself capable of eliciting marked improvement in metabolic control, as in our young diabetic patients in the last decade. Multiple insulin injection therapy seems to be mostly indicated for patients with poor control and for adolescents.

Adolescent↗
PubMedDate not supplied

Unusual magnetic resonance imaging findings of the sellar region in subjects with hypopituitarism: report of 4 cases.

Out of 323 consecutive growth hormone deficient patients who underwent magnetic resonance imaging (MRI), we describe the clinical and neuroradiological characteristics of four patients in whom MRI revealed unusual pictures of the sellar area. They were selected as unique in their morphological picture and representative of rare conditions. At presentation all subjects had short stature, growth hormone (GH) deficiency and complex phenotypical abnormalities. Patient 1. Female affected by vaginal atresia and sinus urogenitalis, polydactyly and syndactyly with Y-shaped metacarpals. MRI at age 11.2 years revealed normal pituitary, but hypothalamic mass occupying the suprasellar and interpeduncular cistern. The diagnosis of Hall-Pallister syndrome was made. Patients 2 and 3. Two sisters with a history of epilepsy both showing mild intellectual deficiency, midface hypoplasia and ectodermal dysplasia. MRI at age 8 and 12 years respectively displayed in both cases a round hypointensity protruding from the dorsum sellae into a normal pituitary. The diagnosis was sellar spine. Patient 4. Male with a history of postnatal hypoglycemia showing microphallus and clinical features of severe hypopituitarism. Hormonal evaluation at age 8 months confirmed multiple pituitary hormone deficiencies and MRI at age 6 years showed absent anterior lobe, rudimentary stalk and posterior lobe ectopia. The diagnosis was pituitary aplasia. The patients described show that MRI in pituitary dwarfs can reveal unusual intrasellar findings and allow the correct diagnosis of rare syndromes. Our patients also demonstrate the wide variability in the association of hypopituitarism with midline congenital abnormalities and the possible combination with complex syndromes.

Abnormalities, Multiple↗
PubMedDate not supplied

Helicobacter pylori infection and cytotoxic antigen associated gene "A" status in short children.

BACKGROUND: Helicobacter pylori is now an accepted gastroduodenal pathogen and is being investigated for possible implications in nongastroenterological conditions such as growth impairment. Subjects infected by cytotoxic Cag-A positive strains seem more likely to develop serious gastroduodenal diseases but the possible role of Cag-A positive strains in non gastroenterological diseases has not been fully investigated. OBJECTIVE: 1) To evaluate the prevalence of Helicobacter pylori infection and Cag-A positivity in short children compared to auxologically normal children. All the subjects were without gastro-intestinal symptoms and were not obese or significantly underweight. 2) To verify the reliability of the ELISA assay for H. pylori. SUBJECTS: H. pylori infection was assessed in 338 children, 182 auxologically normal and 156 short children, with and without deficiency in growth hormone, by the determination of specific IgG antibody. In 79 subjects (all seropositive and a random sample of seronegative children), 13C-urea breath test and cytotoxic Cag-A positive strains were examined. RESULTS: The overall seroprevalence of H. pylori infection by IgG antibody was 18/156 (11.5%) and 13/182 (7.1%) in short and auxologically normal children respectively. The 13C-urea breath test was positive in 29 children: 17 (10.9%) short and 12 (6.6%) auxologically normal. Western blotting documented infection by cytotoxic Cag-A positive strains in 12/17 (70.6%) and 8/12 (66.6%) of short and auxologically normal children respectively. None of the differences between the two groups were significant. CONCLUSIONS: 1) We found a similar prevalence of H. pylori infection and Cag-A positivity in two large pediatric populations of short or auxologically normal children. Therefore: 1) Our data did not confirm a role of H. pylori infection in short stature in children. 2) We found a high reliability of ELISA assay for the detection of IgG antibodies compared to breath test.

Adolescent↗
PubMedDate not supplied

Insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3) concentrations compared to stimulated growth hormone (GH) in the evaluation of children treated for malignancy.

OBJECTIVE: The aim of this investigation was to evaluate the utility of IGF-I and IGFBP-3 determinations in screening for GH deficiency (GHD) in children previously submitted to treatment for childhood malignancy. PATIENTS AND METHODS: We compared the GH responses to two pharmacological tests (arginine and levo-dopa) with the IGF-I and IGFBP-3 levels in 48 patients (29 boys) who had undergone bone marrow transplantation (BMT) (36 patients) or treatment for a solid cranial tumor (12 patients). RESULTS: 22 patients (45.8%) showed GHD (i.e. GH peak < 8 ng/ml in both tests), and only three (13.6%) of the GHD patients had concomitant low IGF-I levels (i.e. -2 SD below the normal mean) and only one (4.5%) an abnormal IGFBP-3 value (i.e. -2 SD below the normal mean). Among the 26 children with normal GH secretion, 21 (80.8%) also showed normal IGF-I and IGFBP-3 levels, three (11.5%) had a concomitant low IGF-I value and two (7.7%) a concomitant low IGFBP-3 value. A significant correlation was found between GH secretion and age at diagnosis (r = 0.26, P < 0.05), and between IGF-I and IGFBP-3 (r = 0.52, P < 0.0001), but not between GH and IGF-I or IGFBP-3. Comparing the growth pattern of these patients from diagnosis to the first year after therapy or BMT, we found that while individual height changes did not correlate with the GH peak, a significant correlation was found between height SDS decrease and IGF-I (r = 0.31, P < 0.05) or IGFBP-3 SDS (r = 0.37, P < 0.01). CONCLUSION: Our results indicate that the cut-off of -2 SD for IGF-I and IGFBP-3 was insensitive in screening for GHD. A normal value did not exclude a subnormal GH response to provocative tests and therefore although IGF-I and IGFBP-3 levels may be indicators of the growth pattern, they cannot be used alone as a tool for identifying GHD children after treatment for childhood malignancy.

Arginine↗
PubMedDate not supplied

Homocysteinemia, serum folate and vitamin B12 in very young patients with diabetes mellitus type 1.

BACKGROUND: Recently a link between hyperhomocysteinemia [HH(e)] and diabetic micro- and macrovascular complications has been reported. However, it is far from clear whether HH(e) is an epiphenomenon or a cause of angiopathic complications. OBJECTIVE: To try to clarify this question we studied adolescents and young diabetic patients without or with only initial complications. SUBJECTS: Plasma levels of basal homocysteinemia [H(e)], folate and vitamin B12 were measured in 76 young diabetic patients (age range 13.6-32.2 yr) and 70 normal volunteers matched for sex and age. In 68 diabetic patients and 53 controls we evaluated the levels of homocysteinemia 2 h after a methionine-loading test. METHODS: Total (free + protein bound) plasma H(e) level was measured by HPLC. RESULTS: Basal or post-load HH(e) occurred in 4.1% of diabetic patients and 12.4% of controls (frequencies not statistically different). In diabetic patients plasma homocysteine values were statistically lower than in controls, but this difference was present only in females. The females showed lower homocysteine values and higher folate levels than males only in the diabetic group. We did not find significant differences in H(e) levels between patients with early complications, late complications or without complications of any type. CONCLUSIONS: Considering very young diabetic patients, the risk of hyperhomocysteinemia does not appear to be greater than in normal controls. Furthermore, our data seem to demonstrate that HH(e) is not a preexisting condition in diabetic patients, even in those predisposed to early complications.

Adolescent↗
PubMedDate not supplied

[Cryptorchidism].

Cryptorchidism is a frequent abnormality which affects approximately 1% of children at age 1 year. Many nonscrotal testes are retractile and require no therapy. The pathogenesis remains controversial and involves possible mechanical, dysgenetic or hormonal factors. The latter are consistent with a partial defect in the hypothalamo-pituitary-gonadal axis, which may cause progressive histologic alterations in the testes after the first 6 months of life. Ultrasound is the simplest diagnostic technique (after clinical examination) to identify the testes in the inguinal region, while Magnetic Resonance Imaging can be performed to visualize abdominal testes. Therapy is still a matter of controversy. Hormonal treatments with HCG, LHRH or both should be used as first-intention treatment and their efficacy ranges from 0% to 60% in the various studies. LHRH nasal spray seems less effective if used alone. An early surgical treatment is recommended if the gonad is in the abdomen or close to the internal inguinal ring. The risk of cancer is increased in subjects with a history of cryptorchidism and even includes the contralateral descended testes. Early orchidopexy is not associated with a certain decrease of the risk. Cancer can be prevented by searching for in situ carcinoma with a biopsy performed after puberty. Fertility is impaired mainly in men with a history of bilateral cryptorchidism. There is weak evidence that early orchidopexy may improve fertility rates.

Adolescent↗
PubMedDate not supplied

[Neuropsychological follow-up of children with phenylketonuria treated early].

We evaluated, yearly, the neuro-psychological development in 16 out of the 27 children with phenylketonuria detected via neonatal screening in the years 1980-90. 14 children had the classical form, while 2 had "variant" type of phenylketonuria. Development quotients always were slightly lower in patients than in controls, but the greatest difference was seen at 1 year of age (92.5 +/- 6.7 vs 101.6 +/- 2.2). At age 6 years, 4 children out of 11 had a IQ equal or below 90.2 of them had neonatal asphyxia, while the others showed, after age 2-4, constantly elevated phenylalanine levels. Four children had a bad metabolic control, as from the age of 2-4 year, and only 1 of them showed a normal IQ at 6 years of age. Regression analyses were used to determine the best predictors of IQ. Parents' social level stood out as the best predictor of IQ at 6 years of age. If this parameter was excluded, phenylalanine level, especially at age 4, best predicted IQ. The following variables had no influence: age at start of diet (they were all begun on diet within the first month of life), pre-diet phenylalanine levels and phenylalanine levels at 1 year of age (all children were, at this age, on good control), DQ (Development Quotient) at age 1. A high percentage (10 out 14) of hyperactive and psychologically instable children was also found, but with no correlations with IQ levels.

Age Factors↗
PubMedDate not supplied

[Auxological data and definitive height in short patients without hormonal deficiencies. A longitudinal study].

61 children (49 males and 12 females) with stature before puberty less than 3. centile were studied. They had been previously diagnosed with the various GH stimulation tests as "constitutional short" and they were measured after reaching final adult height. During longitudinal follow-up, the following auxological data were calculated: height for chronological and bone age sds (HCAsds, HBAsds), height age/bone age ratio (HA/BA), bone age sds (BA sds); all the latter were calculated both in prepuberty and in puberty (mean 1.24 years after the onset of puberty). Target height and predictable height according to Bayley and Pinneau were also calculated. Final height for males was 152-175 cm (mean 162.3) and for females 144-163 cm (mean 151.5). These values were lower than expected with both target height and Bayley and Pinneau prediction, especially if the values of Bayley and Pinneau had been calculated before puberty. In females there was a significant positive correlation with target and final height. In males final height was positively correlated with Target height, with prepuberal data of HCA sds and with pubertal data of HBA sds and HA/BA. A negative correlation was found with final height in males and BA sds during puberty. A delay in bone age, probability, represented a positive factor in increasing final height only if it was maintained during puberty. Bayley and Pinneau's method overestimated final height, in particular when it was used before puberty or with a severe bone delay. Subject with pubertal delay are 2.42 cm taller than normal pubertal children. This difference had been acquired before puberty.

Age Determination by Skeleton↗
PubMedDate not supplied

[Endocrinology of cryptorchidism].

The testicular descent into the scrotum depends on a series of complex endocrine and mechanical interactions. The first stage or transabdominal that occurs during the first 3 months of gestation is probably produced by the differential growth of the fetus and is believed to be mediated by the Müllerian inhibiting hormone. The second stage or transinguinal migration that occurs during the 8th month of gestation is a complex event depending on the interaction between the hypothalamic-pituitary-testicular hormonal axis and mechanical factors as gubernaculum, intra-abdominal pressure, epididymis. This stage is believed to be androgen dependent. Although hormonal involvement in testicular descent appears clear-cut, there is nevertheless some discrepancy in the literature as to whether cryptorchid children show abnormalities in their hypothalamic-pituitary-testicular axis. Certainly cryptorchidism is a syndrome with various causes. Few cases show primary anatomical abnormalities or are associated to complex congenital anomalies or to clear hormonal defects. Most cases do not recognize an evident cause and an endocrinological abnormality has been suggested. A deficiency in LH and testosterone secretion has been reported in the cryptorchid child.

Adolescent↗
PubMedDate not supplied

[Neonatal screening for congenital hypothyroidism. Experience at a Regional Center].

We examined 107,670 infants born in the Italian region Emilia-Romagna. Capillary blood samples for contemporary T4 and TSH radioimmunoassay were collected on the 3rd, 4th, 5th, 6th, 7th or between the 7th and the 15th day of life on filter paper. In our method the threshold value for recall for a second assay was calculated taking into account the mean - 2 SD of each session for T4, and fixing between 30 and 50 microU/ml the threshold value for TSH. The re-call percentage was 0.74%. 21 subjects confirmed to be affected by congenital hypothyroidism; this corresponds to a frequency in our region of 1 case every 5,127 infants. 12 subjects had a TBG deficiency, this corresponds to a frequency of 1 case every 8,972 infants. No cases of secondary hypothyroidism were found up to date.

Age Factors↗
PubMedDate not supplied

[Drug treatment of cryptorchidism].

There is still a debate on the choice of medical or surgical approach for the management of the undescended testis and on their efficacy in preventing long-term complications. HCG has long been used, with various schedules, in the treatment of cryptorchidism. A complete descent occurs in 14-59% of cases, with the highest percentages in older children and the lowest in intra-abdominal testes. The usefulness of intranasally administered LHRH is even more controversial and its potency seems inferior to HCG. In the last decades the surgical intervention has been recommended at progressively earlier ages. Our opinion is that the orchiopexy is inevitable, around age 2 years, if medical treatment has failed and the gonad is located intra-abdominally or high in the inguinal canal. In contrast, if the testis shows a partial response to medical treatment and is close to the scrotum, a second HCG course can be performed around age 4 years.

Administration, Intranasal↗
PubMedDate not supplied

[Short-term comparison of the treatment of precocious puberty with 2 different LHRH antagonists (buserelin and long-acting triptorelin). An endocrinologic and echographic study].

To compare the short term effects of a short (Buserelin, 1800 micrograms/day as nasal spray) and a long acting (Triptorelin Depot, 3.75 mg/every 4 weeks i.m.) LHRH agonist, LH and FSH (LHRH test and 2 hours spontaneous rhythm during the morning and during the evening), estradiol and pelvic ultrasonography were evaluated in 12 children (1 boy, mean age 8.24 +/- 1.39 years, mean bone age 9.39 +/- 1.76 years) with early puberty before and after 1 and 2 months of treatment. Informed consent was obtained in all the cases. 6 patients started with Buserelin and 6 with Triptorelin. The therapeutic regimen was crossed over after 2 months of treatment and 2 more months of treatment withdrawal. The results indicate that while in both groups FSH values decreased significantly already from the last month of treatment, patients treated with Triptorelin showed a later LH decrease (significant only after 2 months of treatment). A decrease of pelvic structures volume was however evident only in patients treated with Triptorelin. After 2 months of treatment estradiol levels lowered (but not significantly) in both group. In conclusion despite a later LH decrement, patients treated with the long acting analogue showed however a more evident reduction of pelvic organs volume.

Buserelin↗